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
GNB1	2782	broad.mit.edu	37	1	1721920	1721920	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:1721920C>T	uc001aif.2	-	9	945	c.613G>A	c.(613-615)GAT>AAT	p.D205N	GNB1_uc009vky.2_Missense_Mutation_p.D105N	NM_002074	NP_002065	P62873	GBB1_HUMAN	guanine nucleotide-binding protein, beta-1	205	WD 4.				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCTGAAGCATCACAAGCACCA	0.562		NaN											0	0	0	0.004656	0	24	48				
WDR8	49856	broad.mit.edu	37	1	3548889	3548889	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:3548889A>G	uc001ako.2	-	10	1044	c.936T>C	c.(934-936)TCT>TCC	p.S312S	WDR8_uc001akn.3_Silent_p.S312S|WDR8_uc010nzi.1_3'UTR	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN	WD repeat domain 8	312						centrosome	protein binding				0	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGACTGGGACAGAGGCGATCT	0.537		NaN											0	0	0	0.008361	0	26	86				
CAMTA1	23261	broad.mit.edu	37	1	7806147	7806147	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:7806147A>G	uc001aoi.2	+	18	4820	c.4613A>G	c.(4612-4614)TAC>TGC	p.Y1538C	CAMTA1_uc001aok.3_Missense_Mutation_p.Y581C|CAMTA1_uc001aoj.2_Missense_Mutation_p.Y494C|CAMTA1_uc009vmf.2_Missense_Mutation_p.Y128C	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTCCGGAAATACAAGGTAAAC	0.413		NaN											0	0	0	0.002299	0	22	67				
UBE4B	10277	broad.mit.edu	37	1	10239490	10239490	+	Silent	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:10239490C>G	uc001aqs.3	+	27	4430	c.3717C>G	c.(3715-3717)ACC>ACG	p.T1239T	UBE4B_uc001aqr.3_Silent_p.T1110T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.T694T|UBE4B_uc001aqu.2_Silent_p.T120T	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	1239	U-box.				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGATGGACACCCTCATGACAG	0.572		NaN											0	0	0	0.001882	0	21	109				
UBR4	23352	broad.mit.edu	37	1	19447716	19447716	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:19447716T>C	uc001bbi.2	-	68	10112	c.10108A>G	c.(10108-10110)AGC>GGC	p.S3370G	UBR4_uc001bbk.1_Missense_Mutation_p.S1017G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	3370	Ser-rich.				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTTTCTTGCTCTTTTTAGTG	0.473		NaN											0	0	0	0.003755	0	28	96				
NBPF3	84224	broad.mit.edu	37	1	21800042	21800042	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:21800042C>A	uc001ber.2	+	7	1254	c.904C>A	c.(904-906)CAT>AAT	p.H302N	NBPF3_uc001bes.2_Missense_Mutation_p.H246N|NBPF3_uc009vqb.2_Missense_Mutation_p.H302N|NBPF3_uc010odm.1_Missense_Mutation_p.H232N	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	302	NBPF 1.					cytoplasm				upper_aerodigestive_tract(1)|ovary(1)	2		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCATCCTCTCATGATGAATG	0.448		NaN											1	0	3.31034e-53	0.00361	4.5162e-53	81	255				
USP48	84196	broad.mit.edu	37	1	22074634	22074634	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:22074634T>A	uc001bfb.2	-	7	1143	c.905A>T	c.(904-906)GAC>GTC	p.D302V	USP48_uc010odq.1_Missense_Mutation_p.D302V|USP48_uc009vqc.2_Missense_Mutation_p.D302V|USP48_uc001bfc.2_Missense_Mutation_p.D302V|USP48_uc001bfe.1_Missense_Mutation_p.D302V|USP48_uc001bff.2_Missense_Mutation_p.D302V	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	ubiquitin specific protease 48 isoform a	302					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(1)|lung(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CATTTACCTGTCAAAGACAAA	0.363		NaN											0	0	0	0.008871	0	20	40				
HSPG2	3339	broad.mit.edu	37	1	22155497	22155497	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:22155497T>A	uc001bfj.2	-	88	12108	c.12068A>T	c.(12067-12069)AAG>ATG	p.K4023M	HSPG2_uc001bfi.2_Missense_Mutation_p.K40M|HSPG2_uc009vqd.2_Missense_Mutation_p.K4024M	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	4023	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGCCGTCCTTGTTGAGACG	0.701		NaN											0	0	0	0.004672	0	3	6				
HSPG2	3339	broad.mit.edu	37	1	22169324	22169324	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:22169324C>A	uc001bfj.2	-	67	8889	c.8849G>T	c.(8848-8850)GGG>GTG	p.G2950V	HSPG2_uc009vqd.2_Missense_Mutation_p.G2951V	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2950	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ATGGGCCTGCCCGGGCACCAC	0.657		NaN											1	0	1.13719e-10	0.008361	1.4475e-10	30	98				
MYOM3	127294	broad.mit.edu	37	1	24401849	24401849	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:24401849G>T	uc001bin.3	-	22	2981	c.2818C>A	c.(2818-2820)CTG>ATG	p.L940M	MYOM3_uc001bim.3_Missense_Mutation_p.L597M|MYOM3_uc001bio.2_Missense_Mutation_p.L940M	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	940										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGGGGTCCAGTGGGCCCTTG	0.512		NaN											1	0	3.31993e-32	0.00361	4.48219e-32	53	146				
TMEM57	55219	broad.mit.edu	37	1	25810726	25810726	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:25810726T>G	uc001bkk.2	+	7	1476	c.1274T>G	c.(1273-1275)ATG>AGG	p.M425R	TMEM57_uc009vru.2_Missense_Mutation_p.M198R|TMEM57_uc009vrv.2_Missense_Mutation_p.M67R	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	425						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTCAGAAATGGGCCAGCTT	0.572		NaN											0	0	0	0.008871	0	21	94				
DHDDS	79947	broad.mit.edu	37	1	26786621	26786621	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:26786621C>G	uc001bml.2	+	8	872	c.751C>G	c.(751-753)CAT>GAT	p.H251D	DHDDS_uc001bmk.2_Missense_Mutation_p.H251D|DHDDS_uc001bmm.2_Missense_Mutation_p.H158D|DHDDS_uc001bmn.2_Missense_Mutation_p.H212D|DHDDS_uc010ofd.1_Missense_Mutation_p.H217D	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase isoform b	251							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(3)	3		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCAGATGAACCATAGCGTGCT	0.493		NaN											0	0	0	0.002222	0	42	134				
RPS6KA1	6195	broad.mit.edu	37	1	26885394	26885394	+	Missense_Mutation	SNP	G	G	T	rs147534995		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:26885394G>T	uc001bmr.1	+	14	1344	c.1181G>T	c.(1180-1182)CGT>CTT	p.R394L	RPS6KA1_uc010ofe.1_Missense_Mutation_p.R302L|RPS6KA1_uc010off.1_Missense_Mutation_p.R378L|RPS6KA1_uc001bms.1_Missense_Mutation_p.R403L|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R237L	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	394					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGCAAGCCTCGTGCCCCGCAG	0.637		NaN											1	0	4.47668e-21	0.003954	5.93084e-21	24	55				
GRIK3	2899	broad.mit.edu	37	1	37267622	37267622	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:37267622C>T	uc001caz.2	-	16	2725	c.2590G>A	c.(2590-2592)GAT>AAT	p.D864N		NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	864	Cytoplasmic (Potential).				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			ovary(3)|skin(2)|large_intestine(1)|breast(1)	7		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGGATCTCATCGGCCACGGTG	0.582		NaN											0	0	0	0.001368	0	12	33				
ZC3H12A	80149	broad.mit.edu	37	1	37941247	37941247	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:37941247G>T	uc001cbb.3	+	2	300	c.150G>T	c.(148-150)ATG>ATT	p.M50I		NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	50					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)				AACTGCAGATGAAGGTGGACT	0.622		NaN											1	0	1.67942e-08	0.006122	2.09658e-08	17	64				
HEYL	26508	broad.mit.edu	37	1	40105218	40105218	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:40105218C>G	uc001cdp.2	-	1	131	c.80G>C	c.(79-81)AGC>ACC	p.S27T		NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	hairy/enhancer-of-split related with YRPW	27					multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGGCCCTTACCTCAGCTGGCC	0.746		NaN											0	0	0	0.000602	0	5	13				
CAP1	10487	broad.mit.edu	37	1	40525127	40525127	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:40525127A>C	uc001cfa.3	+	2	338	c.109A>C	c.(109-111)AAA>CAA	p.K37Q	CAP1_uc010ojd.1_RNA|CAP1_uc001cey.3_Missense_Mutation_p.K37Q|CAP1_uc001cez.3_Missense_Mutation_p.K37Q|CAP1_uc009vvz.2_Missense_Mutation_p.K37Q|CAP1_uc010oje.1_Missense_Mutation_p.Q6H	NM_006367	NP_006358	Q01518	CAP1_HUMAN	adenylyl cyclase-associated protein	37					activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding			ovary(1)	1	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTCCTTCAAAAGGTAAGCA	0.478		NaN											0	0	0	0.006122	0	19	52				
SCMH1	22955	broad.mit.edu	37	1	41493986	41493986	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:41493986G>T	uc001cgo.2	-	16	2174	c.1863C>A	c.(1861-1863)ATC>ATA	p.I621I	SCMH1_uc010ojr.1_Silent_p.I441I|SCMH1_uc001cgp.2_Silent_p.I560I|SCMH1_uc001cgr.2_Silent_p.I538I|SCMH1_uc001cgs.2_Silent_p.I609I|SCMH1_uc001cgt.2_Silent_p.I538I|SCMH1_uc001cgq.2_Silent_p.I552I	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN	sex comb on midleg 1 isoform 1	621	SAM.				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CCTTGCCATCGATCTCCTGGG	0.597		NaN											1	0	1.10923e-09	0.00278	1.39145e-09	24	63				
EBNA1BP2	10969	broad.mit.edu	37	1	43636436	43636436	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:43636436C>T	uc001cin.2	-	4	635	c.438G>A	c.(436-438)CAG>CAA	p.Q146Q	EBNA1BP2_uc001cio.2_Silent_p.Q201Q|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_Silent_p.Q41Q|EBNA1BP2_uc010ojx.1_Silent_p.Q201Q	NM_006824	NP_006815	Q99848	EBP2_HUMAN	EBNA1 binding protein 2 isoform 2	146	Potential.				ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTTCTGCATCTGCAGATCAG	0.453		NaN											0	0	0	0.00361	0	48	180				
CCDC24	149473	broad.mit.edu	37	1	44461475	44461475	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:44461475G>A	uc001clj.2	+	8	819	c.648G>A	c.(646-648)ATG>ATA	p.M216I	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Missense_Mutation_p.M171I|CCDC24_uc009vxc.2_Missense_Mutation_p.M180I	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	216	Potential.										0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AGAAGGCCATGGAGCAGGAGC	0.557		NaN											0	0	0	0.00361	0	45	153				
CCDC24	149473	broad.mit.edu	37	1	44461719	44461719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:44461719C>T	uc001clj.2	+	9	982	c.811C>T	c.(811-813)CGA>TGA	p.R271*	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Silent_p.F224F|CCDC24_uc009vxc.2_Nonsense_Mutation_p.R235*	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	271											0	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCCCTACCTTCGACCTCGAGG	0.677		NaN											0	0	0	0.002222	0	44	84				
NASP	4678	broad.mit.edu	37	1	46072194	46072194	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:46072194C>A	uc001coi.1	+	5	442	c.340C>A	c.(340-342)CAT>AAT	p.H114N	NASP_uc010olq.1_Missense_Mutation_p.H77N|NASP_uc001coh.1_Missense_Mutation_p.H116N|NASP_uc001coj.1_Missense_Mutation_p.H114N|NASP_uc010olr.1_Missense_Mutation_p.H50N|NASP_uc001cok.1_5'UTR	NM_002482	NP_002473	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein isoform 2	114	Glu-rich (acidic).				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GGAAGGTGTGCATGTGGAAGA	0.393		NaN											1	0	1.36565e-18	0.00278	1.79399e-18	22	62				
ELAVL4	1996	broad.mit.edu	37	1	50661283	50661283	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:50661283G>A	uc001csb.2	+	5	827	c.559G>A	c.(559-561)GAA>AAA	p.E187K	ELAVL4_uc001cry.3_Missense_Mutation_p.E190K|ELAVL4_uc001crz.3_Missense_Mutation_p.E187K|ELAVL4_uc001csa.3_Missense_Mutation_p.E204K|ELAVL4_uc001csc.3_Missense_Mutation_p.E187K|ELAVL4_uc009vyu.2_Missense_Mutation_p.E192K|ELAVL4_uc010omz.1_Missense_Mutation_p.E192K	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	187	RRM 2.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GATTGAGGCAGAAGAAGCCAT	0.522		NaN											0	0	0	0.002222	0	41	108				
PRPF38A	84950	broad.mit.edu	37	1	52874277	52874277	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:52874277G>C	uc001ctv.3	+	3	530	c.327G>C	c.(325-327)CTG>CTC	p.L109L	PRPF38A_uc001ctw.3_Intron	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN	PRP38 pre-mRNA processing factor 38 (yeast)	109					mRNA processing|RNA splicing	spliceosomal complex					0						ACATGAGGCTGACAGGCACTG	0.453		NaN											0	0	0	0.001882	0	22	76				
HOOK1	51361	broad.mit.edu	37	1	60309252	60309252	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:60309252T>C	uc009wad.2	+	10	872	c.770T>C	c.(769-771)TTA>TCA	p.L257S	HOOK1_uc001czo.2_Missense_Mutation_p.L257S|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.L215S	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	257	Potential.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)					CTAGAACAATTACAGGAAGAA	0.323		NaN											0	0	0	0.00245	0	15	45				
LRRC7	57554	broad.mit.edu	37	1	70504742	70504742	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:70504742G>A	uc001dep.2	+	19	3151	c.3121G>A	c.(3121-3123)GAA>AAA	p.E1041K	LRRC7_uc009wbg.2_Missense_Mutation_p.E325K|LRRC7_uc001deq.2_Missense_Mutation_p.E282K	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1041						centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						AGGATCAGTGGAAGTGAAAGC	0.448		NaN											0	0	0	0.001368	0	13	48				
FPGT	8790	broad.mit.edu	37	1	74670826	74670826	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:74670826T>C	uc001dgb.1	+	4	1132	c.1095T>C	c.(1093-1095)TAT>TAC	p.Y365Y	TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	NM_003838	NP_003829	O14772	FPGT_HUMAN	fucose-1-phosphate guanyltransferase	365					fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding			skin(1)	1						CCGAAGAATATTTGTTTTACT	0.328		NaN											0	0	0	0.002299	0	21	58				
ST6GALNAC5	81849	broad.mit.edu	37	1	77509952	77509952	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:77509952C>G	uc001dhi.2	+	3	500	c.325C>G	c.(325-327)CGG>GGG	p.R109G	ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	sialyltransferase 7E	109	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			pancreas(1)|skin(1)	2						GCTGCACAGTCGGCAAGGCTC	0.617		NaN											0	0	0	0.00499	0	16	69				
USP33	23032	broad.mit.edu	37	1	78177467	78177467	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:78177467T>A	uc001dht.2	-	22	2811	c.2464A>T	c.(2464-2466)AAA>TAA	p.K822*	USP33_uc001dhs.2_Nonsense_Mutation_p.K543*|USP33_uc001dhu.2_Nonsense_Mutation_p.K791*|USP33_uc001dhv.2_Nonsense_Mutation_p.K627*|USP33_uc001dhw.2_Nonsense_Mutation_p.K814*	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN	ubiquitin specific protease 33 isoform 1	822	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(2)|ovary(1)	3						TTTCTTCTTTTTTCAATTTTC	0.328		NaN											0	0	0	0.001882	0	22	59				
OVGP1	5016	broad.mit.edu	37	1	111966296	111966296	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:111966296C>G	uc001eba.2	-	5	408	c.352G>C	c.(352-354)GAA>CAA	p.E118Q	OVGP1_uc001eaz.2_Missense_Mutation_p.E80Q|OVGP1_uc010owb.1_5'UTR|OVGP1_uc010owc.1_Missense_Mutation_p.E108Q	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1 precursor	118					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			ovary(4)|large_intestine(1)	5		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		ATAAACTTTTCACGGTTGGCA	0.458		NaN											0	0	0	0.002299	0	20	72				
MAGI3	260425	broad.mit.edu	37	1	114196636	114196636	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:114196636A>G	uc001edk.2	+	15	2806	c.2625A>G	c.(2623-2625)CCA>CCG	p.P875P	MAGI3_uc001edh.3_Silent_p.P900P|MAGI3_uc001edi.3_Silent_p.P875P|MAGI3_uc010owm.1_Silent_p.P900P|MAGI3_uc001edj.2_Silent_p.P596P	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	membrane-associated guanylate kinase-related  3	900	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			lung(3)|ovary(2)|central_nervous_system(1)	6	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACCACCTCCAGGAGGTAAGG	0.443		NaN											0	0	0	0.00361	0	71	185				
CD101	9398	broad.mit.edu	37	1	117559992	117559992	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:117559992C>G	uc010oxb.1	+	5	1567	c.1509C>G	c.(1507-1509)ATC>ATG	p.I503M	CD101_uc009whd.2_Missense_Mutation_p.I503M|CD101_uc010oxc.1_Missense_Mutation_p.I503M|CD101_uc010oxd.1_Missense_Mutation_p.I441M	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	immunoglobulin superfamily, member 2 precursor	503	Extracellular (Potential).|Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						TCACTGCCATCACAGACAGTG	0.517		NaN											0	0	0	0.008361	0	30	88				
WDR3	10885	broad.mit.edu	37	1	118486119	118486119	+	Missense_Mutation	SNP	A	A	G	rs141364091	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:118486119A>G	uc010oxe.1	+	11	1264	c.1198A>G	c.(1198-1200)ACT>GCT	p.T400A	WDR3_uc001ehi.2_Intron	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	WD repeat-containing protein 3	400						nuclear membrane|nucleolus				upper_aerodigestive_tract(1)	1	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ATCCTTGCCTACTCCTCAGCC	0.473		NaN											0	0	0	0.004672	0	3	100				
SPAG17	200162	broad.mit.edu	37	1	118506543	118506543	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:118506543T>C	uc001ehk.2	-	48	6619	c.6551A>G	c.(6550-6552)AAT>AGT	p.N2184S		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2184						cilium|flagellar axoneme|microtubule				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTATCATAATTGCTGCTTGT	0.333		NaN											0	0	0	0.00623	0	35	108				
NOTCH2	4853	broad.mit.edu	37	1	120462024	120462024	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:120462024C>T	uc001eik.2	-	31	5948	c.5692G>A	c.(5692-5694)GAT>AAT	p.D1898N		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1898	Cytoplasmic (Potential).|ANK 2.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACCTGCATCCAGGAGACGC	0.617		NaN	N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome				0	0	0	0.003954	0	25	88				
ITGA10	8515	broad.mit.edu	37	1	145541826	145541826	+	Missense_Mutation	SNP	C	C	T	rs140404631		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:145541826C>T	uc001eoa.2	+	29	3425	c.3349C>T	c.(3349-3351)CGG>TGG	p.R1117W	NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R986W|ITGA10_uc009wiw.2_Missense_Mutation_p.R974W|ITGA10_uc010oyw.1_Missense_Mutation_p.R1024W	NM_003637	NP_003628	O75578	ITA10_HUMAN	integrin, alpha 10 precursor	1117	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTTCAGACCCGGCCTATCCT	0.532		NaN											0	0	0	0.004878	0	34	111				
FCGR1A	2209	broad.mit.edu	37	1	149762804	149762804	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:149762804C>T	uc001esp.3	+	6	906	c.856C>T	c.(856-858)CCA>TCA	p.P286S	HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_RNA	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor	286	Extracellular (Potential).				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			ovary(1)	1	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTCCAGTTACCAACTCCTGT	0.423		NaN											0	0	0	0.003271	0	23	64				
HORMAD1	84072	broad.mit.edu	37	1	150679028	150679028	+	Splice_Site	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:150679028C>A	uc001evk.1	-	10	910	c.804_splice	c.e10+1	p.S268_splice	HORMAD1_uc001evl.1_Splice_Site_p.S261_splice|HORMAD1_uc001evm.1_Splice_Site_p.S188_splice	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1						blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			AATACACTTACACTTGTATAA	0.294		NaN											1	0	6.31663e-08	0.003163	7.82298e-08	13	106				
PRUNE	58497	broad.mit.edu	37	1	150990968	150990968	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:150990968T>G	uc001ewh.1	+	3	294	c.158T>G	c.(157-159)GTG>GGG	p.V53G	PRUNE_uc001ewi.1_Intron|PRUNE_uc010pco.1_Intron|PRUNE_uc001ewj.1_Intron	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	prune	53						cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAAGTCTTTGTGCCAGTTTTA	0.383		NaN											0	0	0	0.00361	0	47	234				
C1orf56	54964	broad.mit.edu	37	1	151020344	151020344	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:151020344G>A	uc001ewn.2	+	1	86	c.21G>A	c.(19-21)GCG>GCA	p.A7A		NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	hypothetical protein LOC54964 precursor	7						extracellular region					0	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCGCCGGCGCGCTGCTGTGGG	0.687		NaN											0	0	0	0.00308	0	8	29				
KRTCAP2	200185	broad.mit.edu	37	1	155145217	155145217	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155145217G>A	uc001fho.2	-	2	260	c.234C>T	c.(232-234)CTC>CTT	p.L78L	RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fhp.1_Silent_p.L78L|TRIM46_uc009wpe.1_5'Flank|TRIM46_uc010pez.1_5'Flank|TRIM46_uc001fhq.2_5'Flank|TRIM46_uc001fhr.2_5'Flank|TRIM46_uc001fhs.1_5'Flank|TRIM46_uc001fht.1_5'Flank|TRIM46_uc010pfa.1_5'Flank|TRIM46_uc001fhu.1_5'Flank|TRIM46_uc009wpg.1_5'Flank|TRIM46_uc009wpf.2_5'Flank|TRIM46_uc001fhv.3_5'Flank|TRIM46_uc001fhw.1_5'Flank	NM_173852	NP_776251	Q8N6L1	KTAP2_HUMAN	keratinocyte associated protein 2	78	Helical; (Potential).					integral to membrane					0	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGATACAGTGAGCGAGAACA	0.617		NaN											0	0	0	0.00245	0	13	32				
HCN3	57657	broad.mit.edu	37	1	155247568	155247568	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155247568C>T	uc001fjz.1	+	1	195	c.187C>T	c.(187-189)CGG>TGG	p.R63W	RAG1AP1_uc010pey.1_Intron|CLK2_uc009wqm.2_5'Flank|HCN3_uc010pfz.1_5'UTR	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	63	Involved in subunit assembly (By similarity).|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTTCTCCCTTCGGGTGTTCGG	0.622		NaN											0	0	0	0.001368	0	10	20				
HCN3	57657	broad.mit.edu	37	1	155247576	155247576	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155247576C>T	uc001fjz.1	+	1	203	c.195C>T	c.(193-195)TTC>TTT	p.F65F	RAG1AP1_uc010pey.1_Intron|CLK2_uc009wqm.2_5'Flank|HCN3_uc010pfz.1_5'UTR	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	65	Involved in subunit assembly (By similarity).|Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTCGGGTGTTCGGCAGCCACA	0.622		NaN											0	0	0	0.001368	0	11	18				
ASH1L	55870	broad.mit.edu	37	1	155490915	155490915	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155490915C>T	uc009wqq.2	-	2	876	c.396G>A	c.(394-396)AAG>AAA	p.K132K	ASH1L_uc001fkt.2_Silent_p.K132K|ASH1L_uc009wqr.1_Silent_p.K132K	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	132					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGTGTTCATTCTTTTCATCCG	0.333		NaN											0	0	0	0.00361	0	78	271				
SYT11	23208	broad.mit.edu	37	1	155838178	155838178	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155838178G>C	uc001fmg.2	+	2	720	c.457G>C	c.(457-459)GAG>CAG	p.E153Q	SYT11_uc010pgq.1_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	153	Cytoplasmic (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			ATCATCTCCAGAGGAGGATGT	0.517		NaN											0	0	0	0.00361	0	47	139				
SYT11	23208	broad.mit.edu	37	1	155838197	155838197	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155838197G>A	uc001fmg.2	+	2	739	c.476G>A	c.(475-477)GGA>GAA	p.G159E	SYT11_uc010pgq.1_Intron	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	synaptotagmin XI	159	Cytoplasmic (Potential).					cell junction|synaptic vesicle membrane	protein binding|transporter activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GTCATGCTAGGATCCCTCACC	0.537		NaN											0	0	0	0.00623	0	41	122				
SLC25A44	9673	broad.mit.edu	37	1	156180072	156180072	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:156180072G>A	uc001fnp.2	+	4	1117	c.795G>A	c.(793-795)CTG>CTA	p.L265L	SLC25A44_uc010phc.1_Silent_p.L156L|SLC25A44_uc009wrr.2_Silent_p.L273L|SLC25A44_uc010phd.1_RNA|SLC25A44_uc010phe.1_RNA|PMF1_uc009wru.1_5'Flank|PMF1_uc001fnq.2_5'Flank|PMF1_uc001fnr.2_5'Flank|BGLAP_uc001fns.1_5'Flank	NM_014655	NP_055470	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	265	Solcar 3.				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			ovary(1)	1	Hepatocellular(266;0.158)					TCAGACAGCTGATGGCAGAAG	0.547		NaN											0	0	0	0.003271	0	34	69				
APOA1BP	128240	broad.mit.edu	37	1	156561602	156561602	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:156561602C>T	uc001fph.2	+	1	45	c.6C>T	c.(4-6)TCC>TCT	p.S2S	APOA1BP_uc001fpg.2_Silent_p.S2S|APOA1BP_uc001fpi.2_Silent_p.S2S|APOA1BP_uc001fpj.2_5'UTR|APOA1BP_uc001fpk.2_5'UTR|APOA1BP_uc010php.1_5'UTR	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein precursor	2						extracellular region	protein binding			central_nervous_system(1)	1	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTGGATGTCCAGGCTGCGGG	0.612		NaN											0	0	0	0.004672	0	3	14				
SH2D2A	9047	broad.mit.edu	37	1	156779017	156779017	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:156779017G>T	uc001fqd.2	-	7	1120	c.980C>A	c.(979-981)TCC>TAC	p.S327Y	SH2D2A_uc001fqc.1_Missense_Mutation_p.S299Y|SH2D2A_uc009wsh.2_Missense_Mutation_p.S337Y|SH2D2A_uc001fqe.2_Missense_Mutation_p.S309Y|SH2D2A_uc010phs.1_Missense_Mutation_p.S327Y	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	327	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GACAGGCCTGGACCAGCTCTT	0.602		NaN											1	0	3.82633e-55	0.00361	5.22931e-55	95	240				
CD1E	913	broad.mit.edu	37	1	158326312	158326312	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:158326312T>G	uc001fse.2	+	5	1168	c.929T>G	c.(928-930)CTG>CGG	p.L310R	CD1E_uc010pid.1_3'UTR|CD1E_uc010pie.1_3'UTR|CD1E_uc010pif.1_3'UTR|CD1E_uc001fsd.2_Silent_p.P275P|CD1E_uc001fsk.2_Missense_Mutation_p.L220R|CD1E_uc001fsj.2_Missense_Mutation_p.L165R|CD1E_uc001fsc.2_Missense_Mutation_p.L121R|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.L66R|CD1E_uc001fsf.2_Missense_Mutation_p.L310R|CD1E_uc001fry.2_Missense_Mutation_p.L255R|CD1E_uc001fsg.2_Silent_p.P86P|CD1E_uc001fsh.2_Missense_Mutation_p.L121R|CD1E_uc001fsi.2_Silent_p.P275P|CD1E_uc009wsv.2_Missense_Mutation_p.L211R|CD1E_uc001frz.2_Missense_Mutation_p.L220R|CD1E_uc009wsw.2_Intron	NM_030893	NP_112155	P15812	CD1E_HUMAN	CD1E antigen isoform a precursor	310	Helical; (Potential).				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				skin(3)	3	all_hematologic(112;0.0378)					TTTCTCATCCTGATCTGTTTG	0.393		NaN											0	0	0	0.000978	0	11	37				
PPOX	5498	broad.mit.edu	37	1	161140930	161140930	+	Silent	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:161140930A>C	uc001fyj.2	+	13	1688	c.1398A>C	c.(1396-1398)GCA>GCC	p.A466A	PPOX_uc001fyn.2_Silent_p.A174A|PPOX_uc001fyg.2_Silent_p.A466A|PPOX_uc001fyl.2_Silent_p.A432A|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Silent_p.A304A|PPOX_uc001fyh.2_Silent_p.A304A|PPOX_uc010pkg.1_Silent_p.A304A|PPOX_uc009wuc.1_Silent_p.A267A|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	466					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			ovary(1)	1	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGCGCCAGGCAGCAGTCAGTG	0.512		NaN							Porphyria_Variegata				0	0	0	0.002852	0	40	174				
NR1I3	9970	broad.mit.edu	37	1	161201118	161201118	+	Splice_Site	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:161201118C>A	uc001fzx.2	-	6	897	c.694_splice	c.e6+1	p.V232_splice	TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Splice_Site_p.V232_splice|NR1I3_uc001fzg.2_Splice_Site_p.V203_splice|NR1I3_uc001fzh.2_Splice_Site_p.V203_splice|NR1I3_uc001fzi.2_Splice_Site_p.V203_splice|NR1I3_uc001fzj.2_Splice_Site_p.V203_splice|NR1I3_uc001fzk.2_Splice_Site_p.D203_splice|NR1I3_uc001fzl.2_Splice_Site_p.D203_splice|NR1I3_uc001fzm.2_Splice_Site_p.V157_splice|NR1I3_uc001fzn.2_Splice_Site_p.D65_splice|NR1I3_uc009wug.2_Splice_Site_p.V65_splice|NR1I3_uc001fzp.2_Splice_Site_p.V232_splice|NR1I3_uc001fzo.2_Splice_Site_p.V65_splice|NR1I3_uc001fzq.2_Splice_Site_p.V128_splice|NR1I3_uc001fzr.2_Splice_Site_p.V128_splice|NR1I3_uc001fzs.2_Splice_Site_p.D65_splice|NR1I3_uc001fzt.2_Splice_Site_p.D65_splice|NR1I3_uc001fzu.2_Splice_Site_p.V99_splice|NR1I3_uc001fzv.2_Splice_Site_p.V99_splice|NR1I3_uc001fzw.2_Splice_Site_p.V232_splice|NR1I3_uc001fzy.2_Splice_Site_p.V232_splice|NR1I3_uc001fzz.2_Splice_Site_p.A232_splice|NR1I3_uc001gaa.2_Splice_Site_p.D232_splice|NR1I3_uc001gab.2_Splice_Site_p.D232_splice|NR1I3_uc001gac.2_Splice_Site_p.V203_splice|NR1I3_uc010pkm.1_Splice_Site_p.V203_splice|NR1I3_uc010pkn.1_Missense_Mutation_p.G232V	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	constitutive androstane receptor isoform 2						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			ovary(1)|skin(1)	2	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACCATCTCACCACGGGCTCC	0.507		NaN											1	0	6.32553e-13	0.004656	8.10459e-13	23	102				
TNN	63923	broad.mit.edu	37	1	175086247	175086247	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:175086247G>A	uc001gkl.1	+	10	2405	c.2292G>A	c.(2290-2292)CTG>CTA	p.L764L		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	764	Fibronectin type-III 6.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCACTGTCCTGACGGGCCTGA	0.637		NaN											0	0	0	0.00632	0	27	95				
CEP350	9857	broad.mit.edu	37	1	179989993	179989993	+	Silent	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:179989993C>A	uc001gnt.2	+	12	3467	c.3084C>A	c.(3082-3084)ATC>ATA	p.I1028I	CEP350_uc009wxl.2_Silent_p.I1027I|CEP350_uc001gnu.2_Silent_p.I862I	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	centrosome-associated protein 350	1028						centrosome|nucleus|spindle				ovary(4)	4						ATGAACCCATCAAAGAGTTTC	0.403		NaN											1	0	1.33834e-09	0.007413	1.67615e-09	18	46				
DHX9	1660	broad.mit.edu	37	1	182845362	182845362	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:182845362A>G	uc001gpr.2	+	17	2156	c.1993A>G	c.(1993-1995)ACT>GCT	p.T665A	DHX9_uc001gps.2_Missense_Mutation_p.T451A	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	665	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						TCTGATTTATACTATGCAGAA	0.373		NaN											0	0	0	0.002522	0	43	126				
PTGS2	5743	broad.mit.edu	37	1	186648486	186648486	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:186648486C>A	uc001gsb.2	-	2	274	c.137G>T	c.(136-138)CGG>CTG	p.R46L	PTGS2_uc009wyo.2_5'UTR	NM_000963	NP_000954	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 precursor	46	EGF-like.				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			ovary(1)|central_nervous_system(1)	2					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GAATCCTGTCCGGGTACAATC	0.438		NaN											1	0	4.4004e-07	0.00333	5.43251e-07	24	55				
CFH	3075	broad.mit.edu	37	1	196712595	196712595	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:196712595G>A	uc001gtj.3	+	20	3387	c.3147G>A	c.(3145-3147)GTG>GTA	p.V1049V		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	1049	Sushi 18.				complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6						CCTCCTGTGTGAATCCGCCCA	0.373		NaN											0	0	0	0.002299	0	22	115				
BTG2	7832	broad.mit.edu	37	1	203276382	203276382	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:203276382G>C	uc001gzq.2	+	2	364	c.293G>C	c.(292-294)AGC>ACC	p.S98T	FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	NM_006763	NP_006754	P78543	BTG2_HUMAN	B-cell translocation gene 2	98					DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			ovary(1)|kidney(1)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.203)			CTGCTGCCCAGCGAGCTGACC	0.642		NaN											0	0	0	0.004007	0	17	80		Valid		
KLHDC8A	55220	broad.mit.edu	37	1	205312535	205312535	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:205312535G>C	uc001hcf.1	-	2	766	c.198C>G	c.(196-198)CCC>CCG	p.P66P	KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Silent_p.P66P	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	66	Kelch 2.									ovary(1)	1	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCCGGGCTGTGGGCAGCCGGG	0.677		NaN											0	0	0	0.006999	0	39	94				
SRGAP2	23380	broad.mit.edu	37	1	206628299	206628299	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:206628299G>A	uc001hdy.2	+	18	2508	c.2175G>A	c.(2173-2175)GTG>GTA	p.V725V	SRGAP2_uc001hdx.2_Silent_p.V725V|SRGAP2_uc010pru.1_Silent_p.V648V	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	812					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					AAGAAAAGGTGACAGCCAGAG	0.552		NaN											0	0	0	0.003755	0	35	87				
SRGAP2	23380	broad.mit.edu	37	1	206628307	206628307	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:206628307G>T	uc001hdy.2	+	18	2516	c.2183G>T	c.(2182-2184)AGA>ATA	p.R728I	SRGAP2_uc001hdx.2_Missense_Mutation_p.R728I|SRGAP2_uc010pru.1_Missense_Mutation_p.R651I	NM_015326	NP_056141	O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	815					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding				0	Breast(84;0.137)					GTGACAGCCAGAGCGGGGGCC	0.537		NaN											1	0	1.58521e-26	0.005524	2.12543e-26	38	91				
TLR5	7100	broad.mit.edu	37	1	223285245	223285245	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:223285245C>T	uc001hnv.1	-	4	1575	c.1129G>A	c.(1129-1131)GAC>AAC	p.D377N	TLR5_uc001hnw.1_Missense_Mutation_p.D377N	NM_003268	NP_003259	O60602	TLR5_HUMAN	toll-like receptor 5 precursor	377	Extracellular (Potential).|LRR 8.				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			ovary(2)|lung(1)|skin(1)	4				GBM - Glioblastoma multiforme(131;0.0851)		AATGTTTGGTCTTGAATTATT	0.368		NaN											0	0	0	0.00278	0	25	88				
C1orf69	200205	broad.mit.edu	37	1	228362831	228362831	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:228362831G>C	uc001hsl.3	+	3	777	c.688G>C	c.(688-690)GAG>CAG	p.E230Q	C1orf69_uc010pvw.1_Missense_Mutation_p.E37Q	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN	hypothetical protein LOC200205 precursor	230					glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity				0		Prostate(94;0.0405)				AGGCGTTCCTGAGGGGGTCCG	0.627		NaN											0	0	0	0.007291	0	28	83				
TRIM67	440730	broad.mit.edu	37	1	231342533	231342533	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:231342533G>A	uc009xfn.1	+	7	1858	c.1816G>A	c.(1816-1818)GAT>AAT	p.D606N		NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN	tripartite motif-containing 67	606	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCAGACATCCGATGGTGAGCA	0.502		NaN											0	0	0	0.00499	0	15	35				
CNST	163882	broad.mit.edu	37	1	246810471	246810471	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:246810471G>T	uc001ibp.2	+	9	1346	c.968G>T	c.(967-969)AGT>ATT	p.S323I	CNST_uc001ibo.3_Missense_Mutation_p.S323I	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	hypothetical protein LOC163882 isoform 1	323					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding				0						ACAGAGTCAAGTAAAGAAAGC	0.428		NaN									OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	1.5548e-18	0.005443	2.03561e-18	24	85				
OR2G2	81470	broad.mit.edu	37	1	247752379	247752379	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:247752379G>A	uc010pyy.1	+	1	718	c.718G>A	c.(718-720)GCA>ACA	p.A240T		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G,	240	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAGACAGAAAGCATTCGGGAC	0.393		NaN											0	0	0	0.00632	0	28	93				
OR2G3	81469	broad.mit.edu	37	1	247769738	247769738	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:247769738C>T	uc010pyz.1	+	1	851	c.851C>T	c.(850-852)ACT>ATT	p.T284I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G,	284	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGACCCCCACTTTAAATCCT	0.433		NaN											0	0	0	0.005443	0	26	98				
OR11L1	391189	broad.mit.edu	37	1	248004726	248004726	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:248004726A>T	uc001idn.1	-	1	473	c.473T>A	c.(472-474)CTG>CAG	p.L158Q		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	158	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGGGAAGGCAGAAAGCCTGT	0.577		NaN											0	0	0	0.002836	0	33	103				
TRIM58	25893	broad.mit.edu	37	1	248020677	248020677	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:248020677C>T	uc001ido.2	+	1	177	c.129C>T	c.(127-129)TTC>TTT	p.F43F		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	tripartite motif-containing 58	43	RING-type.					intracellular	zinc ion binding			skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTCCGAGTTCTGCGAGAAGT	0.711		NaN											0	0	0	0.00308	0	6	14				
VIM	7431	broad.mit.edu	37	10	17275816	17275816	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:17275816C>T	uc001iou.2	+	5	1181	c.768C>T	c.(766-768)ATC>ATT	p.I256I	VIM_uc001iov.1_Silent_p.I256I|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.I256I|VIM_uc001ioy.1_Silent_p.I256I|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.I256I|VIM_uc001ipc.1_Silent_p.I256I	NM_003380	NP_003371	P08670	VIME_HUMAN	vimentin	256	Rod.|Linker 12.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						ATGTCCAAATCGATGTGGATG	0.537		NaN											0	0	0	0.00361	0	64	91				
SLC39A12	221074	broad.mit.edu	37	10	18242459	18242459	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:18242459G>A	uc001ipo.2	+	2	527	c.254G>A	c.(253-255)TGC>TAC	p.C85Y	SLC39A12_uc001ipn.2_Missense_Mutation_p.C85Y|SLC39A12_uc001ipp.2_Missense_Mutation_p.C85Y|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter),	85	Extracellular (Potential).				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)|breast(1)	2						CAAGGAGATTGCAATCTGGTT	0.453		NaN											0	0	0	0.00632	0	29	63				
YME1L1	10730	broad.mit.edu	37	10	27415685	27415685	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:27415685C>A	uc001iti.2	-	10	1242	c.1060G>T	c.(1060-1062)GTT>TTT	p.V354F	YME1L1_uc001itj.2_Missense_Mutation_p.V297F|YME1L1_uc010qdl.1_Missense_Mutation_p.V264F|YME1L1_uc009xkv.2_RNA	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	YME1-like 1 isoform 1	354					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			ovary(1)	1						AATTCAACAACTTCCTGTAAT	0.318		NaN											1	0	8.12818e-05	0.001984	9.90901e-05	7	45				
GPRIN2	9721	broad.mit.edu	37	10	46999257	46999257	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:46999257G>A	uc001jec.2	+	3	512	c.377G>A	c.(376-378)CGT>CAT	p.R126H	GPRIN2_uc010qfq.1_5'Flank	NM_014696	NP_055511	O60269	GRIN2_HUMAN	G protein-regulated inducer of neurite outgrowth	126											0						GACCTGGTCCGTAGCACCCAG	0.642		NaN											0	0	0	0.00308	0	8	55				
C10orf53	282966	broad.mit.edu	37	10	50916482	50916482	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:50916482G>C	uc001jid.1	+	3	353	c.293G>C	c.(292-294)TGT>TCT	p.C98S		NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53 isoform a	Error:Variant_position_missing_in_Q8N6V4_after_alignment											0		all_neural(218;0.107)				agcagcccgtgtaggatgaaa	0		NaN											0	0	0	0.00361	0	65	151				
HK1	3098	broad.mit.edu	37	10	71129055	71129055	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:71129055C>T	uc001jpl.3	+	6	755	c.654C>T	c.(652-654)GGC>GGT	p.G218G	HK1_uc001jpg.3_Silent_p.G206G|HK1_uc001jph.3_Silent_p.G222G|HK1_uc001jpi.3_Silent_p.G222G|HK1_uc001jpj.3_Silent_p.G253G|HK1_uc001jpk.3_Silent_p.G217G|HK1_uc009xqd.2_Silent_p.G96G	NM_000188	NP_000179	P19367	HXK1_HUMAN	hexokinase 1 isoform HKI	218	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1						TGACCTGTGGCTATGACGACC	0.537		NaN											0	0	0	0.002299	0	18	58				
CAMK2G	818	broad.mit.edu	37	10	75609037	75609037	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:75609037G>A	uc001jvv.1	-	6	496	c.372C>T	c.(370-372)ATC>ATT	p.I124I	CAMK2G_uc001jvm.1_Silent_p.I132I|CAMK2G_uc001jvo.1_Silent_p.I132I|CAMK2G_uc001jvq.1_Silent_p.I132I|CAMK2G_uc001jvr.1_Silent_p.I132I|CAMK2G_uc001jvp.1_Silent_p.I132I|CAMK2G_uc001jvs.1_Silent_p.I132I|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Silent_p.I110I|CAMK2G_uc010qkv.1_Intron	NM_172171	NP_751911	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II	132	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			lung(1)|stomach(1)	2	Prostate(51;0.0112)					CCCTGTGGACGATGTCATGCT	0.522		NaN									OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000978	0	11	40				
PIK3AP1	118788	broad.mit.edu	37	10	98380234	98380234	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:98380234G>A	uc001kmq.2	-	12	1944	c.1816C>T	c.(1816-1818)CGG>TGG	p.R606W	PIK3AP1_uc001kmo.2_Missense_Mutation_p.R205W|PIK3AP1_uc001kmp.2_Missense_Mutation_p.R428W	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	606						cytoplasm|plasma membrane				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ATAAGCTGCCGCTGGCCTGGC	0.562		NaN											0	0	0	0.00361	0	54	77				
CHUK	1147	broad.mit.edu	37	10	101953102	101953102	+	Silent	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:101953102T>G	uc001kqp.2	-	19	2116	c.2061A>C	c.(2059-2061)TCA>TCC	p.S687S		NM_001278	NP_001269	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	687				TS -> DL (in Ref. 7; AAC50713).	I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CATGTTCTGCTGAAGTCGGGG	0.473		NaN											0	0	0	0.00623	0	39	95				
MGEA5	10724	broad.mit.edu	37	10	103558904	103558904	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:103558904C>T	uc001ktv.2	-	9	1947	c.1504G>A	c.(1504-1506)GAT>AAT	p.D502N	MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.D449N|MGEA5_uc009xws.2_Missense_Mutation_p.D449N|MGEA5_uc001ktw.2_Missense_Mutation_p.D502N|MGEA5_uc009xwt.2_Missense_Mutation_p.D265N	NM_012215	NP_036347	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	502					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			ovary(2)|skin(1)	3		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTCTCTTTATCAGTGTCCATT	0.398		NaN											0	0	0	0.00361	0	96	287				
NT5C2	22978	broad.mit.edu	37	10	104858711	104858711	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:104858711G>T	uc001kwo.2	-	10	850	c.664C>A	c.(664-666)CTT>ATT	p.L222I	NT5C2_uc010qqp.1_Missense_Mutation_p.L193I|NT5C2_uc001kwq.2_Missense_Mutation_p.L222I|NT5C2_uc001kwp.2_Missense_Mutation_p.L69I	NM_012229	NP_036361	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	222					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	TACTTCTCAAGATTTTCAACT	0.294		NaN											1	0	9.70103e-10	0.008291	1.21889e-09	9	27				
PCGF6	84108	broad.mit.edu	37	10	105110683	105110683	+	Silent	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:105110683A>C	uc001kwt.2	-	1	209	c.141T>G	c.(139-141)CCT>CCG	p.P47P	PCGF6_uc001kwu.2_Silent_p.P47P|PCGF6_uc009xxk.2_RNA|PCGF6_uc009xxl.2_RNA|PCGF6_uc009xxm.2_RNA	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6 isoform a	47	Pro-rich.				negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)	1		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TCTCAGACAGAGGCGCCGGTC	0.522		NaN											0	0	0	0.000602	0	5	9				
PNLIPRP3	119548	broad.mit.edu	37	10	118187433	118187433	+	Translation_Start_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:118187433G>A	uc001lcl.3	+	1	10	c.-91G>A	c.(-93--89)TTGTG>TTATG			NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3 precursor						lipid catabolic process	extracellular region	triglyceride lipase activity			ovary(1)	1				all cancers(201;0.0131)		TTGCATCATTGTGAGGAAAAC	0.323		NaN											0	0	0	0.001984	0	6	31				
TACC2	10579	broad.mit.edu	37	10	123844863	123844863	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:123844863G>A	uc001lfv.2	+	4	3208	c.2848G>A	c.(2848-2850)GAG>AAG	p.E950K	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.E950K|TACC2_uc010qtv.1_Missense_Mutation_p.E950K	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	950						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAAGCGGCCAGAGGGAGCATG	0.522		NaN											0	0	0	0.007835	0	39	109				
C11orf35	256329	broad.mit.edu	37	11	556086	556086	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:556086C>T	uc001lpx.2	-	11	1350	c.1287G>A	c.(1285-1287)AAG>AAA	p.K429K	uc001lpy.2_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	hypothetical protein LOC256329	429										pancreas(1)	1		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGCGGCTTCTTGGCGCTGC	0.587		NaN											0	0	0	0.006214	0	10	10				
MUC15	143662	broad.mit.edu	37	11	26586972	26586972	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:26586972G>A	uc001mqx.2	-	2	700	c.434C>T	c.(433-435)TCT>TTT	p.S145F	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.S172F|MUC15_uc001mqy.2_Missense_Mutation_p.S172F	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	145	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3						GTTTTCTGAAGACAGAGCAGG	0.428		NaN											0	0	0	0.004289	0	35	92				
LIN7C	55327	broad.mit.edu	37	11	27523109	27523109	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:27523109T>C	uc001mrl.2	-	3	188	c.161A>G	c.(160-162)TAT>TGT	p.Y54C	LIN7C_uc009yii.2_Intron	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C	54	L27.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction					0						GACATGTTCATATACCTGTAA	0.348		NaN											0	0	0	0.003271	0	33	56				
TCP11L1	55346	broad.mit.edu	37	11	33083105	33083105	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:33083105G>C	uc001mud.2	+	7	1205	c.805G>C	c.(805-807)GAA>CAA	p.E269Q	TCP11L1_uc009yju.2_Missense_Mutation_p.E84Q|TCP11L1_uc010rei.1_Missense_Mutation_p.E269Q|TCP11L1_uc001mue.2_Missense_Mutation_p.E269Q|TCP11L1_uc001muf.1_RNA	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	t-complex 11 (mouse) like 1	269											0						CCAGTGGCTGGAAGAAGCCTC	0.527		NaN											0	0	0	0.001523	0	21	38				
CAPRIN1	4076	broad.mit.edu	37	11	34110948	34110948	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:34110948C>G	uc001mvh.1	+	12	1427	c.1238C>G	c.(1237-1239)TCT>TGT	p.S413C	CAPRIN1_uc001mvg.2_Missense_Mutation_p.S413C|CAPRIN1_uc001mvi.2_Missense_Mutation_p.S413C|CAPRIN1_uc001mvj.1_Missense_Mutation_p.S332C	NM_005898	NP_005889	Q14444	CAPR1_HUMAN	membrane component chromosome 11 surface marker	413					negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GCAGTTCATTCTGAATCTAGA	0.313		NaN											0	0	0	0.007291	0	26	49				
ALX4	60529	broad.mit.edu	37	11	44331236	44331236	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:44331236C>T	uc001myb.2	-	1	481	c.377G>A	c.(376-378)CGA>CAA	p.R126Q		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	aristaless-like homeobox 4	126					hair follicle development						0						GCAGGCGCCTCGCTGCAAGTA	0.473		NaN											0	0	0	0.000602	0	5	15				
LRP4	4038	broad.mit.edu	37	11	46895138	46895138	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:46895138T>C	uc001ndn.3	-	29	4382	c.4236A>G	c.(4234-4236)GCA>GCG	p.A1412A	uc001ndl.2_RNA	NM_002334	NP_002325	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein	1412	Extracellular (Potential).|LDL-receptor class B 16.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4				Lung(87;0.159)		CGTTCAGGTCTGCTCGCCTTG	0.532		NaN											0	0	0	0.002522	0	42	94				
DDB2	1643	broad.mit.edu	37	11	47237917	47237917	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:47237917T>C	uc001neb.2	+	2	353	c.158T>C	c.(157-159)CTC>CCC	p.L53P	DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.L53P|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.L53P|DDB2_uc001nef.2_Missense_Mutation_p.L39P|DDB2_uc001neg.2_5'UTR|DDB2_uc001neh.2_5'Flank	NM_000107	NP_000098	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2	53					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			kidney(2)|ovary(1)	3						TCAGACTGCCTCTGGGTGGGG	0.557		NaN	Mis|N			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.00361	0	50	148				
OR5AS1	219447	broad.mit.edu	37	11	55798060	55798060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:55798060C>T	uc010riw.1	+	1	166	c.166C>T	c.(166-168)CAA>TAA	p.Q56*		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	56	Helical; Name=2; (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)					TTCAAGCCTTCAAATTCCCAT	0.343		NaN											0	0	0	0.004007	0	15	55				
MS4A2	2206	broad.mit.edu	37	11	59863129	59863129	+	Nonstop_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:59863129A>C	uc001nop.2	+	7	837	c.735A>C	c.(733-735)TAA>TAC	p.*245Y		NM_000139	NP_000130	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member	245					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			ovary(1)	1		all_epithelial(135;0.245)			Omalizumab(DB00043)	TTGATTTATAAGAATCACGTG	0.428		NaN											0	0	0	0.008291	0	10	30				
ZP1	22917	broad.mit.edu	37	11	60636673	60636673	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:60636673C>T	uc001nqd.2	+	2	272	c.252C>T	c.(250-252)GTC>GTT	p.V84V	ZP1_uc001nqe.2_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 precursor	84	Extracellular (Potential).				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix					0						ACCACTGGGTCACCTCCAGGC	0.587		NaN											0	0	0	0.002299	0	20	41				
CD5	921	broad.mit.edu	37	11	60889102	60889102	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:60889102G>A	uc009ynk.2	+	6	928	c.825G>A	c.(823-825)CAG>CAA	p.Q275Q		NM_014207	NP_055022	P06127	CD5_HUMAN	CD5 molecule precursor	275	Extracellular (Potential).				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			ovary(1)	1		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CCAAGGTGCAGAGCCGTCTGG	0.637		NaN											0	0	0	0.00499	0	17	73				
CAPN1	823	broad.mit.edu	37	11	64977856	64977856	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:64977856G>A	uc009yqd.1	+	20	2103	c.1992G>A	c.(1990-1992)TCG>TCA	p.S664S	CAPN1_uc001odf.1_Silent_p.S664S|CAPN1_uc001odg.1_Silent_p.S664S|CAPN1_uc010roa.1_Silent_p.S405S	NM_005186	NP_005177	P07384	CAN1_HUMAN	calpain 1, large subunit	664	Domain IV.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCCGCTACTCGGAGCCCGACC	0.592		NaN											0	0	0	0.001855	0	12	21				
LRP5	4041	broad.mit.edu	37	11	68115341	68115341	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:68115341C>T	uc001ont.2	+	2	193	c.118C>T	c.(118-120)CGC>TGC	p.R40C	LRP5_uc009ysg.2_5'UTR	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	40	Beta-propeller 1.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						ATTTGCCAACCGCCGGGACGT	0.632		NaN											0	0	0	0.003954	0	23	190				
NUMA1	4926	broad.mit.edu	37	11	71724518	71724518	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:71724518G>A	uc001orl.1	-	15	4203	c.4031C>T	c.(4030-4032)TCC>TTC	p.S1344F	NUMA1_uc009ysw.1_Missense_Mutation_p.S907F|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.S1344F|NUMA1_uc001orn.2_Missense_Mutation_p.S907F|NUMA1_uc009ysx.1_Missense_Mutation_p.S1344F|NUMA1_uc001oro.1_Missense_Mutation_p.S1344F	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1344	Potential.				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						CTGCAGGGTGGAGAGGGCCTG	0.647		NaN	T	RARA	APL								0	0	0	0.001368	0	12	125				
INPPL1	3636	broad.mit.edu	37	11	71943351	71943351	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:71943351C>T	uc001osf.2	+	14	1830	c.1683C>T	c.(1681-1683)CAC>CAT	p.H561H	INPPL1_uc001osg.2_Silent_p.H319H	NM_001567	NP_001558	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	561					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			skin(2)|ovary(1)|breast(1)	4						TGAATTGTCACCTCACCTCGG	0.552		NaN											0	0	0	0.000602	0	5	9				
RSF1	51773	broad.mit.edu	37	11	77378038	77378038	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:77378038G>C	uc001oyn.2	-	16	4370	c.4250C>G	c.(4249-4251)GCA>GGA	p.A1417G	RSF1_uc001oym.2_Missense_Mutation_p.A1165G	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1417					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCTTCTGGTGCTCCTGCCTC	0.478		NaN											0	0	0	0.00361	0	44	282				
ODZ4	26011	broad.mit.edu	37	11	78369287	78369287	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:78369287C>G	uc001ozl.3	-	34	8589	c.8126G>C	c.(8125-8127)AGA>ACA	p.R2709T	ODZ4_uc001ozk.3_Missense_Mutation_p.R934T|ODZ4_uc009yvb.1_Intron	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	odz, odd Oz/ten-m homolog 4	2709	Extracellular (Potential).				signal transduction	integral to membrane				ovary(2)|pancreas(2)	4						TTCCCGCAGTCTCTGCTGCTC	0.667		NaN											0	0	0	0.001523	0	19	65				
MRE11A	4361	broad.mit.edu	37	11	94201031	94201031	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:94201031C>A	uc001peu.2	-	10	1235	c.1046G>T	c.(1045-1047)CGG>CTG	p.R349L	MRE11A_uc001pev.2_Missense_Mutation_p.R349L|MRE11A_uc009ywj.2_Missense_Mutation_p.R352L|MIR548L_hsa-mir-548l|MI0006361_5'Flank	NM_005591	NP_005582	P49959	MRE11_HUMAN	meiotic recombination 11 homolog A isoform 1	349					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(4)|lung(1)	5		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CAGACGTTCCCGTTCAGCATT	0.333		NaN						Homologous_recombination	Ataxia-Telangiectasia-Like_Disorder				1	0	1.32181e-22	0.007291	1.75715e-22	27	26				
EXPH5	23086	broad.mit.edu	37	11	108464258	108464258	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:108464258C>T	uc001pkk.2	-	1	117	c.6G>A	c.(4-6)ACG>ACA	p.T2T		NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	2					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAGGAACTTTCGTCATTTTCT	0.458		NaN											0	0	0	0.00499	0	17	38				
HTR3B	9177	broad.mit.edu	37	11	113775663	113775663	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:113775663C>G	uc001pok.2	+	1	75	c.8C>G	c.(7-9)TCA>TGA	p.S3*		NM_006028	NP_006019	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B	3					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity				0		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GGAATGTTGTCAAGTGTAATG	0.458		NaN											0	0	0	0.00499	0	14	32				
GRIK4	2900	broad.mit.edu	37	11	120690613	120690613	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:120690613C>T	uc001pxn.2	+	6	782	c.495C>T	c.(493-495)ATC>ATT	p.I165I	GRIK4_uc009zav.1_Silent_p.I165I|GRIK4_uc009zaw.1_Silent_p.I165I|GRIK4_uc009zax.1_Silent_p.I165I	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	glutamate receptor KA1 precursor	165	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			ovary(2)|central_nervous_system(1)	3		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CCTGCCTCATCTGTGCCAAAG	0.557		NaN											0	0	0	0.00361	0	88	150				
HSPA8	3312	broad.mit.edu	37	11	122929535	122929535	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:122929535A>G	uc001pyo.2	-	7	1405	c.1327T>C	c.(1327-1329)TAT>CAT	p.Y443H	HSPA8_uc009zbc.2_Missense_Mutation_p.Y207H|HSPA8_uc001pyp.2_Missense_Mutation_p.Y443H|HSPA8_uc010rzu.1_Missense_Mutation_p.Y366H	NM_006597	NP_006588	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8 isoform 1	443					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			central_nervous_system(7)|lung(1)	8		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCGCCTTCATAAACCTTGGTA	0.428		NaN											0	0	0	0.006122	0	18	34				
OR6M1	390261	broad.mit.edu	37	11	123676311	123676311	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:123676311G>A	uc010rzz.1	-	1	747	c.747C>T	c.(745-747)CAC>CAT	p.H249H		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M,	249	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TGTTGCTCCCGTGGGCAATGG	0.507		NaN											0	0	0	0.001368	0	13	28				
IQSEC3	440073	broad.mit.edu	37	12	278230	278230	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:278230G>A	uc001qhw.1	+	9	2120	c.2114G>A	c.(2113-2115)GGA>GAA	p.G705E	IQSEC3_uc001qhu.1_Missense_Mutation_p.G705E	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1008					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAGCCCTGCGGAGCCCAGGGG	0.622		NaN											0	0	0	0.003214	0	44	104				
RAD51AP1	10635	broad.mit.edu	37	12	4662181	4662181	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:4662181G>A	uc001qmw.2	+	8	796	c.640G>A	c.(640-642)GAG>AAG	p.E214K	RAD51AP1_uc001qmu.2_Missense_Mutation_p.E197K|RAD51AP1_uc001qmv.2_Missense_Mutation_p.E160K|RAD51AP1_uc010sep.1_Missense_Mutation_p.E79K|RAD51AP1_uc010seq.1_Missense_Mutation_p.E79K|RAD51AP1_uc009zeg.2_RNA	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	RAD51 associated protein 1 isoform a	214					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding				0			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TGATTTTTGTGAGAGTGAGGA	0.318		NaN											0	0	0	0.006122	0	17	53				
VWF	7450	broad.mit.edu	37	12	6128469	6128469	+	Missense_Mutation	SNP	A	A	G	rs61750070		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:6128469A>G	uc001qnn.1	-	28	4365	c.4115T>C	c.(4114-4116)ATC>ACC	p.I1372T	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	von Willebrand factor preproprotein	1372	VWFA 1; binding site for platelet glycoprotein Ib.				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)	AGGGCGGTCGATCTTGCTGAA	0.612		NaN											0	0	0	0.003271	0	34	85				
PLEKHG6	55200	broad.mit.edu	37	12	6436472	6436472	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:6436472G>T	uc001qnr.2	+	15	1871	c.1723G>T	c.(1723-1725)GAT>TAT	p.D575Y	PLEKHG6_uc010sew.1_Missense_Mutation_p.D575Y|PLEKHG6_uc010sex.1_Missense_Mutation_p.D543Y	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain-containing family G	575					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|skin(1)	2						AGAAGACACAGATGAAGATGC	0.552		NaN									OREG0021622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1	0	3.85841e-42	0.00361	5.24556e-42	54	159				
ARHGDIB	397	broad.mit.edu	37	12	15100819	15100819	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:15100819T>C	uc001rcq.1	-	4	434	c.330A>G	c.(328-330)AAA>AAG	p.K110K	ARHGDIB_uc001rcp.1_RNA	NM_001175	NP_001166	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	110					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity				0						TGAAGTGAATTTTGACTCTAT	0.343		NaN											0	0	0	0.008361	0	29	72				
ITPR2	3709	broad.mit.edu	37	12	26810951	26810951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:26810951G>A	uc001rhg.2	-	17	2416	c.1999C>T	c.(1999-2001)CAA>TAA	p.Q667*		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	667	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					TACTTAGTTTGAATGAGAATG	0.348		NaN											0	0	0	0.00632	0	28	68				
PUS7L	83448	broad.mit.edu	37	12	44148459	44148459	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:44148459A>T	uc001rnq.3	-	2	1079	c.590T>A	c.(589-591)GTA>GAA	p.V197E	PUS7L_uc001rnr.3_Missense_Mutation_p.V197E|PUS7L_uc001rns.3_Missense_Mutation_p.V197E|PUS7L_uc009zkb.2_Intron	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S.	197					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			pancreas(1)	1	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ATTTGGTTTTACAACAATTTC	0.323		NaN											0	0	0	0.007291	0	30	73				
DDN	23109	broad.mit.edu	37	12	49392962	49392962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:49392962C>A	uc001rsv.1	-	1	127	c.109G>T	c.(109-111)GAA>TAA	p.E37*	uc001rsw.2_Intron	NM_015086	NP_055901	O94850	DEND_HUMAN	dendrin	37						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				large_intestine(1)	1						GTCTTCACTTCTATCACCAAT	0.607		NaN											1	0	4.7546e-09	0.004007	5.94516e-09	16	30				
KRT18	3875	broad.mit.edu	37	12	53345517	53345517	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:53345517T>G	uc001sbe.2	+	6	894	c.825T>G	c.(823-825)ATT>ATG	p.I275M	KRT18_uc009zmn.1_Missense_Mutation_p.I275M|KRT18_uc001sbf.1_Missense_Mutation_p.I102M|KRT18_uc001sbg.2_Missense_Mutation_p.I275M|KRT18_uc009zmo.2_Missense_Mutation_p.I275M|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	keratin 18	275	Interaction with DNAJB6.|Coil 2.|Rod.|Necessary for interaction with PNN.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			skin(1)	1						TCCTGCAGATTGAGGAGAGCA	0.607		NaN											0	0	0	0.00308	0	8	38				
PFDN5	5204	broad.mit.edu	37	12	53689715	53689715	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:53689715G>A	uc001scl.2	+	2	282	c.165G>A	c.(163-165)AAG>AAA	p.K55K	PFDN5_uc001scm.2_Intron|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA	NM_002624	NP_002615	Q99471	PFD5_HUMAN	prefoldin subunit 5 isoform alpha	55					'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding			ovary(1)	1						TGCTGAACAAGAGCAACGAGG	0.517		NaN											0	0	0	0.001882	0	18	32				
ATP5B	506	broad.mit.edu	37	12	57037667	57037667	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:57037667G>A	uc001slr.2	-	4	666	c.561C>T	c.(559-561)ATC>ATT	p.I187I	SNORD59B_uc001sls.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	187					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1						CGACAACCTTGATACCAGTCA	0.428		NaN											0	0	0	0.001882	0	21	73				
FAM119B	25895	broad.mit.edu	37	12	58174278	58174278	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:58174278A>G	uc001sqg.2	+	3	655	c.530A>G	c.(529-531)TAT>TGT	p.Y177C	FAM119B_uc001sqf.2_3'UTR|FAM119B_uc009zqd.2_RNA|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN	hypothetical protein LOC25895 isoform a	177						integral to membrane|intracellular	methyltransferase activity				0	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGCACCATCTATCTGGCCTCC	0.582		NaN											0	0	0	0.00278	0	24	40				
GNS	2799	broad.mit.edu	37	12	65116858	65116858	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:65116858G>T	uc001ssg.3	-	11	1406	c.1236C>A	c.(1234-1236)GTC>GTA	p.V412V	GNS_uc001ssf.2_Silent_p.V356V|GNS_uc010ssq.1_Silent_p.V444V|GNS_uc010ssr.1_Silent_p.V392V	NM_002076	NP_002067	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase precursor	412						lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding			central_nervous_system(1)	1	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ATTCCACCAGGACATCTGATC	0.453		NaN											1	0	9.8876e-21	0.004878	1.30771e-20	33	82				
PPP1R12A	4659	broad.mit.edu	37	12	80202350	80202350	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:80202350T>C	uc001syz.2	-	11	1730	c.1463A>G	c.(1462-1464)GAT>GGT	p.D488G	PPP1R12A_uc010suc.1_Missense_Mutation_p.D401G|PPP1R12A_uc001sza.2_Missense_Mutation_p.D488G|PPP1R12A_uc010sud.1_Missense_Mutation_p.D488G|PPP1R12A_uc001szb.2_Missense_Mutation_p.D488G|PPP1R12A_uc001szc.2_Missense_Mutation_p.D488G	NM_002480	NP_002471	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	488						contractile fiber	protein binding|signal transducer activity			ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						TCCTTTACTATCTTTCTCCTA	0.323		NaN											0	0	0	0.002852	0	42	135				
APAF1	317	broad.mit.edu	37	12	99120994	99120994	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:99120994C>T	uc001tfz.2	+	26	4077	c.3500C>T	c.(3499-3501)CCG>CTG	p.P1167L	APAF1_uc001tfy.2_Missense_Mutation_p.P1156L|APAF1_uc001tga.2_Missense_Mutation_p.P1113L|APAF1_uc001tgb.2_Missense_Mutation_p.P1124L|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.P491L	NM_181861	NP_863651	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1 isoform	1167					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			ovary(2)|lung(1)	3					Adenosine triphosphate(DB00171)	TTGTGTGCTCCGCTTTCAGAA	0.423		NaN											0	0	0	0.004656	0	28	138				
ANKS1B	56899	broad.mit.edu	37	12	100377915	100377915	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:100377915C>T	uc001tge.1	-	1	518	c.101G>A	c.(100-102)GGA>GAA	p.G34E	ANKS1B_uc001tgf.1_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.G34E	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	34						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGGTCCGGATCCACCGCCCAG	0.582		NaN											0	0	0	0.00333	0	23	78				
ANKS1B	56899	broad.mit.edu	37	12	100378001	100378001	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:100378001C>T	uc001tge.1	-	1	432	c.15G>A	c.(13-15)CAG>CAA	p.Q5Q	ANKS1B_uc001tgf.1_5'UTR|ANKS1B_uc009ztt.1_Silent_p.Q5Q	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	cajalin 2 isoform a	5	ANK 1.					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane					0		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCAGCAGCTCCTGGTCCTTCC	0.642		NaN											0	0	0	0.00245	0	13	47				
C12orf48	55010	broad.mit.edu	37	12	102569339	102569339	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:102569339A>G	uc001tjf.2	+	7	1012	c.900A>G	c.(898-900)AAA>AAG	p.K300K	C12orf48_uc001tjg.2_Silent_p.K219K|C12orf48_uc010swa.1_Silent_p.K377K|C12orf48_uc001tjh.2_Silent_p.K219K|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Silent_p.K15K|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN	hypothetical protein LOC55010	300					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding				0						CTTTTTGCAAAGCAATAGAGG	0.388		NaN											0	0	0	0.00632	0	30	79				
KIAA1033	23325	broad.mit.edu	37	12	105558026	105558026	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:105558026G>A	uc001tld.2	+	31	3382	c.3295G>A	c.(3295-3297)GAT>AAT	p.D1099N	KIAA1033_uc010swr.1_Missense_Mutation_p.D1100N|KIAA1033_uc010sws.1_Missense_Mutation_p.D911N	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	hypothetical protein LOC23325	1099					endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2						AGCCAGTCAAGATGAAAAACT	0.428		NaN											0	0	0	0.002836	0	33	74				
TCHP	84260	broad.mit.edu	37	12	110342545	110342545	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:110342545G>T	uc001tpn.2	+	4	556	c.403G>T	c.(403-405)GCT>TCT	p.A135S	TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.A135S	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN	trichoplein	135	Glu-rich.|Potential.|Interaction with keratin proteins.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			skin(1)	1						TTGATAGATTGCTGAACAACT	0.373		NaN											1	0	2.94398e-08	0.007413	3.66352e-08	18	48				
TCHP	84260	broad.mit.edu	37	12	110345365	110345365	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:110345365A>T	uc001tpn.2	+	6	713	c.560A>T	c.(559-561)TAT>TTT	p.Y187F	TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.Y187F	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN	trichoplein	187	Glu-rich.|Interaction with keratin proteins.|Potential.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding			skin(1)	1						AACAAACGGTATGAAAATGAA	0.507		NaN											0	0	0	0.007291	0	28	83				
IFT81	28981	broad.mit.edu	37	12	110643412	110643412	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:110643412C>G	uc001tqi.2	+	17	1859	c.1729C>G	c.(1729-1731)CAA>GAA	p.Q577E	IFT81_uc001tqh.2_Missense_Mutation_p.Q577E|IFT81_uc001tqj.2_RNA	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81-like isoform 1	577	Potential.				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				ovary(1)	1						CCTAGAAGTTCAACTTCGTCG	0.318		NaN											0	0	0	0.00361	0	64	192				
C12orf24	29902	broad.mit.edu	37	12	110927913	110927913	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:110927913G>A	uc001tqu.3	+	7	1242	c.793G>A	c.(793-795)GAA>AAA	p.E265K	C12orf24_uc001tqv.3_RNA|C12orf24_uc009zvp.2_RNA	NM_013300	NP_037432	Q8WUB2	CL024_HUMAN	hypothetical protein LOC29902	265											0						GTCAATTGAAGAACAGGGAGA	0.363		NaN											0	0	0	0.005524	0	36	105				
BRAP	8315	broad.mit.edu	37	12	112097074	112097074	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:112097074C>T	uc001tsn.3	-	8	1242	c.1048G>A	c.(1048-1050)GAG>AAG	p.E350K	BRAP_uc010syh.1_Missense_Mutation_p.E171K|BRAP_uc009zvv.2_Missense_Mutation_p.E320K	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	350	UBP-type.				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			lung(1)	1						TGCGTTTCCTCAAAGTGCTTA	0.443		NaN											0	0	0	0.003271	0	33	108				
RBM19	9904	broad.mit.edu	37	12	114358488	114358488	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:114358488G>C	uc009zwi.2	-	19	2457	c.2313C>G	c.(2311-2313)CTC>CTG	p.L771L	RBM19_uc001tvn.3_Silent_p.L771L|RBM19_uc001tvm.2_Silent_p.L771L	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	771	RRM 5.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CCATGGAAAGGAGCACTCCTG	0.507		NaN											0	0	0	0.00361	0	110	249				
EP400	57634	broad.mit.edu	37	12	132547111	132547111	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:132547111G>A	uc001ujn.2	+	46	8234	c.8199G>A	c.(8197-8199)CAG>CAA	p.Q2733Q	EP400_uc001ujl.2_Silent_p.Q2732Q|EP400_uc001ujm.2_Silent_p.Q2652Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2769	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.323		NaN											0	0	0	0.008291	0	10	72				
EP400	57634	broad.mit.edu	37	12	132547117	132547117	+	Silent	SNP	G	G	A	rs151326088		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:132547117G>A	uc001ujn.2	+	46	8240	c.8205G>A	c.(8203-8205)CAG>CAA	p.Q2735Q	EP400_uc001ujl.2_Silent_p.Q2734Q|EP400_uc001ujm.2_Silent_p.Q2654Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2771	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.323		NaN											0	0	0	0.004482	0	9	64				
EP400	57634	broad.mit.edu	37	12	132547120	132547120	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:132547120G>A	uc001ujn.2	+	46	8243	c.8208G>A	c.(8206-8208)CAG>CAA	p.Q2736Q	EP400_uc001ujl.2_Silent_p.Q2735Q|EP400_uc001ujm.2_Silent_p.Q2655Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2772	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.318		NaN											0	0	0	0.008291	0	11	65				
GOLGA3	2802	broad.mit.edu	37	12	133381318	133381318	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:133381318G>A	uc001ukz.1	-	7	2140	c.1581C>T	c.(1579-1581)CTC>CTT	p.L527L	GOLGA3_uc001ula.1_Silent_p.L527L|GOLGA3_uc001ulb.2_Silent_p.L527L	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Golgi autoantigen, golgin subfamily a, 3	527	Potential.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGTCCTTGCTGAGCATGCTCC	0.637		NaN											0	0	0	0.008361	0	28	68				
SMAD9	4093	broad.mit.edu	37	13	37422860	37422860	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:37422860G>C	uc001uvw.2	-	7	1700	c.1357C>G	c.(1357-1359)CTG>GTG	p.L453V	SMAD9_uc001uvx.2_Missense_Mutation_p.L416V|SMAD9_uc010tep.1_Missense_Mutation_p.L246V	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	453	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		ATCTGAGTCAGAACTTTGTCC	0.507		NaN											0	0	0	0.00361	0	97	188				
FREM2	341640	broad.mit.edu	37	13	39263139	39263139	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:39263139T>C	uc001uwv.2	+	1	1967	c.1658T>C	c.(1657-1659)TTA>TCA	p.L553S		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	553	CSPG 3.|Extracellular (Potential).				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCATCACCTTAGTGCCTGTG	0.582		NaN											0	0	0	0.001368	0	13	21				
DIAPH3	81624	broad.mit.edu	37	13	60240843	60240843	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:60240843C>T	uc001vht.2	-	28	3676	c.3457G>A	c.(3457-3459)GAG>AAG	p.E1153K	DIAPH3_uc001vhs.2_RNA	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	1153					actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCCTTCTTCTCAGCTGCCTTG	0.413		NaN											0	0	0	0.002222	0	37	89				
SLITRK6	84189	broad.mit.edu	37	13	86370509	86370509	+	Silent	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:86370509T>G	uc001vll.1	-	2	594	c.135A>C	c.(133-135)CTA>CTC	p.L45L	SLITRK6_uc010afe.1_5'Flank	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	slit and trk like 6 precursor	45	LRRNT 1.|Extracellular (Potential).					integral to membrane				large_intestine(1)|ovary(1)|central_nervous_system(1)	3	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CACAATTTATTAGCATTGTGC	0.408		NaN											0	0	0	0.002836	0	34	48				
NALCN	259232	broad.mit.edu	37	13	101759884	101759884	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:101759884T>A	uc001vox.1	-	22	2722	c.2533A>T	c.(2533-2535)AGG>TGG	p.R845W		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	voltage gated channel like 1	845	Cytoplasmic (Potential).					integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTCTGAACCTGTGTTCTCGC	0.502		NaN											0	0	0	0.005443	0	27	55				
FAM155A	728215	broad.mit.edu	37	13	108518492	108518492	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:108518492G>A	uc001vql.2	-	1	969	c.453C>T	c.(451-453)GAC>GAT	p.D151D		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	151						integral to membrane	binding			skin(1)	1						CCTTGCCCCGGTCGTCTTTGC	0.692		NaN											0	0	0	0.004007	0	16	26				
OR4N2	390429	broad.mit.edu	37	14	20296468	20296468	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:20296468T>A	uc010tkv.1	+	1	861	c.861T>A	c.(859-861)TAT>TAA	p.Y287*		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)|skin(1)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTCATTTATACCCTTCGCA	0.418		NaN											0	0	0	0.008871	0	21	70				
OR4K17	390436	broad.mit.edu	37	14	20586496	20586496	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:20586496C>T	uc001vwo.1	+	1	931	c.931C>T	c.(931-933)CCT>TCT	p.P311S		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K,	283	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)	3	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CATCATCACTCCTATCTTGAA	0.373		NaN											0	0	0	0.001855	0	12	38				
TEP1	7011	broad.mit.edu	37	14	20848088	20848088	+	Splice_Site	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:20848088C>A	uc001vxe.2	-	35	5167	c.5127_splice	c.e35+1	p.Q1709_splice	TEP1_uc010ahk.2_Splice_Site_p.Q1052_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.Q1601_splice|TEP1_uc010tlh.1_Splice_Site_p.Q47_splice	NM_007110	NP_009041	Q99973	TEP1_HUMAN	telomerase-associated protein 1						telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			ovary(5)	5	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GATTGTCATACCTGCCAAGTT	0.507		NaN											1	0	0.00400662	0.004007	0.00485406	16	56				
AP1G2	8906	broad.mit.edu	37	14	24034889	24034889	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:24034889T>C	uc001wkl.2	-	7	1004	c.667A>G	c.(667-669)ATC>GTC	p.I223V	AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Missense_Mutation_p.I151V|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_RNA|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.I223V|AP1G2_uc010aks.2_Missense_Mutation_p.I151V|AP1G2_uc010akt.2_Missense_Mutation_p.I151V|AP1G2_uc010tnq.1_RNA	NM_003917	NP_003908	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2	223					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			ovary(1)	1	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GTCCGGAGGATGTGTACCAGC	0.557		NaN											0	0	0	0.00245	0	13	52				
ZFP36L1	677	broad.mit.edu	37	14	69256333	69256333	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:69256333T>G	uc001xkh.1	-	2	1064	c.934A>C	c.(934-936)AGC>CGC	p.S312R	ZFP36L1_uc001xki.1_Missense_Mutation_p.S312R	NM_004926	NP_004917	Q07352	TISB_HUMAN	butyrate response factor 1	312	Poly-Ser.				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCACTGTGGCTGCTGCTGGAG	0.597		NaN									OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	47	172		Valid		
DCAF5	8816	broad.mit.edu	37	14	69521082	69521082	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:69521082G>T	uc001xkp.2	-	9	2540	c.2321C>A	c.(2320-2322)CCT>CAT	p.P774H	DCAF5_uc001xkq.2_Missense_Mutation_p.P773H	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	WD repeat domain 22	774						CUL4 RING ubiquitin ligase complex				ovary(1)|central_nervous_system(1)	2						GGTTTCAAAAGGGTGCTCTAC	0.597		NaN											1	0	2.47511e-08	0.008361	3.08497e-08	27	108				
SLC8A3	6547	broad.mit.edu	37	14	70512799	70512799	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:70512799C>T	uc001xly.2	-	8	3403	c.2649G>A	c.(2647-2649)AGG>AGA	p.R883R	SLC8A3_uc001xlu.2_Silent_p.R240R|SLC8A3_uc001xlv.2_Silent_p.R254R|SLC8A3_uc001xlw.2_Silent_p.R880R|SLC8A3_uc001xlx.2_Silent_p.R881R|SLC8A3_uc001xlz.2_Silent_p.R877R|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_3'UTR	NM_183002	NP_892114	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium	883	Extracellular (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(2)|breast(2)	7				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGTGCGGCCGCCTTCGGTACA	0.602		NaN									OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.008291	0	9	35				
BATF	10538	broad.mit.edu	37	14	75989032	75989032	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:75989032C>T	uc001xrr.2	+	1	249	c.7C>T	c.(7-9)CAC>TAC	p.H3Y		NM_006399	NP_006390	Q16520	BATF_HUMAN	basic leucine zipper transcription factor,	3						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.028)		AGCCATGCCTCACAGCTCCGA	0.592		NaN											0	0	0	0.002299	0	23	63				
GALC	2581	broad.mit.edu	37	14	88459416	88459416	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:88459416C>T	uc001xvt.2	-	1	492	c.93G>A	c.(91-93)TTG>TTA	p.L31L	GALC_uc010tvx.1_Intron|GALC_uc010tvy.1_Silent_p.L31L|GALC_uc010tvz.1_5'Flank|GALC_uc001xvu.1_Silent_p.L31L	NM_000153	NP_000144	P54803	GALC_HUMAN	galactosylceramidase isoform a precursor	31					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity				0						CACACAGCAGCAAGGGCACCG	0.731		NaN											0	0	0	0.000602	0	4	9				
CCDC88C	440193	broad.mit.edu	37	14	91792370	91792370	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:91792370C>T	uc010aty.2	-	11	1180	c.1081G>A	c.(1081-1083)GAA>AAA	p.E361K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	DVL-binding protein DAPLE	361	Potential.				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)				GCCTTGGTTTCAATTAAAATG	0.458		NaN											0	0	0	0.004482	0	8	23				
ITPK1	3705	broad.mit.edu	37	14	93412799	93412799	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:93412799C>T	uc001ybg.2	-	10	1067	c.778G>A	c.(778-780)GAG>AAG	p.E260K	ITPK1_uc001ybe.2_Missense_Mutation_p.E260K|ITPK1_uc001ybf.2_Missense_Mutation_p.E141K|ITPK1_uc001ybh.2_Missense_Mutation_p.E260K	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	inositol 1,3,4-triphosphate 5/6 kinase isoform	260	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding				0		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CGGATGACCTCGTCGCTCGGC	0.632		NaN											0	0	0	0.001882	0	20	67				
DDX24	57062	broad.mit.edu	37	14	94526714	94526714	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:94526714G>C	uc001ycj.2	-	5	1742	c.1643C>G	c.(1642-1644)CCC>CGC	p.P548R	DDX24_uc010twq.1_Missense_Mutation_p.P505R|DDX24_uc010twr.1_Missense_Mutation_p.P298R	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 24	548					RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|skin(1)	4		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		AATGACCTTGGGCTTGCCCCT	0.468		NaN											0	0	0	0.00361	0	52	138				
PPP4R4	57718	broad.mit.edu	37	14	94674875	94674875	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:94674875C>T	uc001ycs.1	+	3	420	c.266C>T	c.(265-267)ACG>ATG	p.T89M	PPP4R4_uc001ycr.2_Missense_Mutation_p.T89M	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	HEAT-like repeat-containing protein isoform 1	89						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.T89M(1)		skin(3)|upper_aerodigestive_tract(1)	4						CCCACTGAGACGCTTCGGAGA	0.388		NaN											0	0	0	0.00499	0	16	46				
DYNC1H1	1778	broad.mit.edu	37	14	102452341	102452341	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:102452341C>T	uc001yks.2	+	8	1943	c.1779C>T	c.(1777-1779)GTC>GTT	p.V593V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	593	Interaction with DYNC1I2 (By similarity).|Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						CACTGTTTGTCAGGCCTCACA	0.527		NaN											0	0	0	0.008361	0	30	55				
DYNC1H1	1778	broad.mit.edu	37	14	102493553	102493553	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:102493553T>C	uc001yks.2	+	45	8978	c.8814T>C	c.(8812-8814)GTT>GTC	p.V2938V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2938	AAA 4 (By similarity).|ATP (Potential).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10						TGATTGGTGTTAGTGGAGCAG	0.463		NaN											0	0	0	0.00361	0	116	313				
AHNAK2	113146	broad.mit.edu	37	14	105419725	105419725	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:105419725G>A	uc010axc.1	-	7	2183	c.2063C>T	c.(2062-2064)TCA>TTA	p.S688L	AHNAK2_uc001ypx.2_Missense_Mutation_p.S588L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	688						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTGGGGCTGACGCCCCGAA	0.542		NaN											0	0	0	0.00361	0	78	232				
NDN	4692	broad.mit.edu	37	15	23931699	23931699	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:23931699C>T	uc001ywk.2	-	1	752	c.666G>A	c.(664-666)TGG>TGA	p.W222*		NM_002487	NP_002478	Q99608	NECD_HUMAN	necdin	222	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding				0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGTGCTTCTTCCAGGGCCGCA	0.622		NaN							Prader-Willi_syndrome				0	0	0	0.004007	0	17	45				
GABRG3	2567	broad.mit.edu	37	15	27765177	27765177	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:27765177A>T	uc001zbg.1	+	7	938	c.772A>T	c.(772-774)ATT>TTT	p.I258F		NM_033223	NP_150092	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma	258	Helical; (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity				0		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ATACTTCACCATTCAGACATA	0.353		NaN											0	0	0	0.001168	0	6	9				
MTMR10	54893	broad.mit.edu	37	15	31239408	31239408	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:31239408C>T	uc001zfh.1	-	14	1571	c.1473G>A	c.(1471-1473)TTG>TTA	p.L491L	MTMR10_uc010ubk.1_5'UTR|MTMR10_uc001zfg.1_Silent_p.L72L|MTMR10_uc010azx.1_Silent_p.L243L|MTMR10_uc001zfi.1_Silent_p.L243L|MTMR10_uc001zfj.2_Silent_p.L409L|MTMR10_uc001zfk.2_Silent_p.L243L	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	491	Myotubularin phosphatase.						phosphatase activity			ovary(1)	1		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TGCTGTCATACAACACTGCCA	0.507		NaN											0	0	0	0.007835	0	38	115				
AQR	9716	broad.mit.edu	37	15	35212624	35212624	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:35212624A>C	uc001ziv.2	-	14	1311	c.1130T>G	c.(1129-1131)CTC>CGC	p.L377R		NM_014691	NP_055506	O60306	AQR_HUMAN	aquarius	377						catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CACCTGGTGGAGTGTGTTTGA	0.318		NaN											0	0	0	0.000978	0	9	28				
C15orf52	388115	broad.mit.edu	37	15	40627555	40627555	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:40627555A>G	uc001zlh.3	-	11	1425	c.1409T>C	c.(1408-1410)CTG>CCG	p.L470P	C15orf52_uc010ucn.1_Missense_Mutation_p.L260P	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	hypothetical protein LOC388115	470										large_intestine(1)	1		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTGTACTTCCAGCTCAGCCTG	0.662		NaN											0	0	0	0.004289	0	32	67				
FAM82A2	55177	broad.mit.edu	37	15	41037420	41037420	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:41037420C>T	uc001zmo.1	-	5	706	c.562G>A	c.(562-564)GAC>AAC	p.D188N	FAM82A2_uc001zmp.1_Missense_Mutation_p.D188N|FAM82A2_uc001zmq.1_Missense_Mutation_p.D188N	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	family with sequence similarity 82, member A2	188					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding				0						TTGTCAGAGTCCCGCTCATTG	0.498		NaN											0	0	0	0.00361	0	85	106				
INO80	54617	broad.mit.edu	37	15	41280022	41280022	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:41280022T>G	uc001zni.2	-	30	3934	c.3721A>C	c.(3721-3723)AAG>CAG	p.K1241Q	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	1241	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						ACCTCACTCTTCTCCTTGGCT	0.468		NaN											0	0	0	0.00361	0	105	346				
INO80	54617	broad.mit.edu	37	15	41280032	41280032	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:41280032T>C	uc001zni.2	-	30	3924	c.3711A>G	c.(3709-3711)AGA>AGG	p.R1237R	INO80_uc010ucu.1_RNA	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	INO80 complex homolog 1	1237	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			ovary(2)|pancreas(1)|skin(1)	4						TCTCCTTGGCTCTTTGCAGAA	0.478		NaN											0	0	0	0.00361	0	103	330				
SPTBN5	51332	broad.mit.edu	37	15	42168429	42168429	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:42168429C>T	uc001zos.2	-	21	4233	c.3900G>A	c.(3898-3900)CTG>CTA	p.L1300L		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1335	Spectrin 10.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCGCAGCCATCAGCCCCTTCT	0.627		NaN											0	0	0	0.000978	0	11	25				
SPTBN5	51332	broad.mit.edu	37	15	42170747	42170747	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:42170747T>A	uc001zos.2	-	17	3491	c.3158A>T	c.(3157-3159)CAG>CTG	p.Q1053L		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1088					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACTTGTTCCTGTACTTGCTT	0.642		NaN											0	0	0	0.008291	0	10	33				
TGM5	9333	broad.mit.edu	37	15	43531079	43531079	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:43531079G>A	uc001zrd.1	-	9	1289	c.1281C>T	c.(1279-1281)ATC>ATT	p.I427I	TGM5_uc001zrc.1_Silent_p.I84I|TGM5_uc001zre.1_Silent_p.I345I	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	427					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCTTTGTGCTGATAAAATTGC	0.507		NaN											0	0	0	0.00499	0	17	33				
SLC12A1	6557	broad.mit.edu	37	15	48559784	48559784	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:48559784G>T	uc001zwn.3	+	18	2397	c.2181G>T	c.(2179-2181)GAG>GAT	p.E727D	SLC12A1_uc010uew.1_Missense_Mutation_p.E533D|SLC12A1_uc010bem.2_Missense_Mutation_p.E727D|SLC12A1_uc001zwq.3_Missense_Mutation_p.E498D|SLC12A1_uc001zwr.3_Missense_Mutation_p.E454D	NM_000338	NP_000329	Q13621	S12A1_HUMAN	sodium potassium chloride cotransporter 2	727					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTGTTAAGGAGATGAACAGTG	0.433		NaN											1	0	6.12954e-19	0.004656	8.07937e-19	26	64				
APH1B	83464	broad.mit.edu	37	15	63579740	63579740	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:63579740A>G	uc002ama.2	+	4	547	c.473A>G	c.(472-474)TAT>TGT	p.Y158C	APH1B_uc002amb.2_Intron|APH1B_uc010bgq.2_Missense_Mutation_p.Y104C|APH1B_uc010bgr.2_Missense_Mutation_p.Y104C	NM_031301	NP_112591	Q8WW43	APH1B_HUMAN	presenilin stabilization factor-like isoform 1	158	Helical; Name=5; (Potential).				apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	integral to membrane|plasma membrane|transport vesicle	peptidase activity|protein binding				0						TTCTTCCTTTATTCAGGTATG	0.423		NaN											0	0	0	0.00361	0	85	188				
CSNK1G1	53944	broad.mit.edu	37	15	64592686	64592686	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:64592686T>C	uc002anf.2	-	2	493	c.13A>G	c.(13-15)AGT>GGT	p.S5G	CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.S5G|CSNK1G1_uc002anh.1_Missense_Mutation_p.S5G|CSNK1G1_uc002anj.2_5'UTR|CSNK1G1_uc010uip.1_RNA	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	5					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0						TTTTCCCTACTAGGATGGTCC	0.448		NaN											0	0	0	0.00361	0	51	148				
HCN4	10021	broad.mit.edu	37	15	73616530	73616530	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:73616530G>T	uc002avp.2	-	7	3037	c.2043C>A	c.(2041-2043)CTC>CTA	p.L681L		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic	681	Cytoplasmic (Potential).|cAMP.				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			ovary(5)|liver(1)	6				COAD - Colon adenocarcinoma(1;0.142)		TCAGCGAGTAGAGGCGGCAGT	0.642		NaN											1	0	1.77063e-15	0.005443	2.29123e-15	27	65				
FBXO22	26263	broad.mit.edu	37	15	76222340	76222340	+	Silent	SNP	C	C	T	rs143480986		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:76222340C>T	uc002bbk.2	+	6	849	c.744C>T	c.(742-744)ATC>ATT	p.I248I	FBXO22_uc002bbj.1_Silent_p.I248I|FBXO22_uc002bbl.2_Silent_p.I144I	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	F-box only protein 22 isoform a	248					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity				0						ATATGAATATCATCTTGGCTG	0.438		NaN											0	0	0	0.002836	0	34	97				
IREB2	3658	broad.mit.edu	37	15	78758655	78758655	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:78758655G>A	uc002bdr.2	+	5	615	c.453G>A	c.(451-453)CAG>CAA	p.Q151Q	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Silent_p.Q151Q	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	151							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GTGACCTGCAGAAAGCAGGAA	0.458		NaN											0	0	0	0.001523	0	21	35				
ADAMTS7	11173	broad.mit.edu	37	15	79090340	79090340	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:79090340C>G	uc002bej.3	-	3	783	c.572G>C	c.(571-573)AGG>ACG	p.R191T	ADAMTS7_uc010und.1_Missense_Mutation_p.R191T|ADAMTS7_uc002bek.1_Missense_Mutation_p.R191T	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1	191					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0						CTGTGCCAGCCTCTCCGGGGC	0.647		NaN											0	0	0	0.001786	0	29	108				
ADAMTSL3	57188	broad.mit.edu	37	15	84651522	84651522	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:84651522G>A	uc002bjz.3	+	21	3366	c.3142G>A	c.(3142-3144)GAC>AAC	p.D1048N	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D1048N|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.D1048N	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	1048						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTGGATGATGACCACATTAG	0.448		NaN											0	0	0	0.003954	0	23	77				
ALPK3	57538	broad.mit.edu	37	15	85401501	85401501	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:85401501G>A	uc002ble.2	+	6	4305	c.4138G>A	c.(4138-4140)GGG>AGG	p.G1380R		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1380					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCAGGAGACGGGGAGGCAAC	0.652		NaN											0	0	0	0.000248	0	4	11				
AKAP13	11214	broad.mit.edu	37	15	86123759	86123759	+	Silent	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:86123759A>T	uc002blv.1	+	7	2630	c.2460A>T	c.(2458-2460)ACA>ACT	p.T820T	AKAP13_uc002blt.1_Silent_p.T820T|AKAP13_uc002blu.1_Silent_p.T820T|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	820					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						AACTACATACAGCTACAGATT	0.498		NaN											0	0	0	0.00361	0	76	184				
WDR93	56964	broad.mit.edu	37	15	90245001	90245001	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:90245001G>C	uc002boj.2	+	2	125	c.24G>C	c.(22-24)CAG>CAC	p.Q8H	WDR93_uc002bok.3_Missense_Mutation_p.Q8H|WDR93_uc010bnr.2_Missense_Mutation_p.Q8H	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	8					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			ovary(2)	2	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGGAAGTCAGACCCAGAAAA	0.463		NaN											0	0	0	0.00361	0	47	136				
CRTC3	64784	broad.mit.edu	37	15	91172733	91172733	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:91172733C>A	uc002bpp.2	+	11	1341	c.1235C>A	c.(1234-1236)ACC>AAC	p.T412N	CRTC3_uc002bpo.2_Missense_Mutation_p.T412N	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	transducer of regulated CREB protein 3 isoform	412					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	salivary_gland(26)|ovary(1)	27	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTGTCTTCAACCAGCCCACTG	0.567		NaN	T	MAML2	salivary gland mucoepidermoid								1	0	9.42957e-07	0.007835	1.16228e-06	44	116				
IGF1R	3480	broad.mit.edu	37	15	99459919	99459919	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:99459919A>C	uc002bul.2	+	10	2065	c.2015A>C	c.(2014-2016)AAG>ACG	p.K672T	IGF1R_uc010urq.1_Missense_Mutation_p.K672T|IGF1R_uc010bon.2_Missense_Mutation_p.K672T|IGF1R_uc010urr.1_Missense_Mutation_p.K122T	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	672	Fibronectin type-III 2.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCCATCAGGAAGTATGCCGAC	0.488		NaN											0	0	0	0.001523	0	19	47				
ADAMTS17	170691	broad.mit.edu	37	15	100821443	100821443	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:100821443G>A	uc002bvv.1	-	4	859	c.780C>T	c.(778-780)GTC>GTT	p.V260V	ADAMTS17_uc002bvx.1_Silent_p.V17V	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1	260	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCATGTTCATGACGGTCAGGA	0.622		NaN											0	0	0	0.002096	0	31	119				
PCSK6	5046	broad.mit.edu	37	15	101906500	101906500	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:101906500C>T	uc002bwy.2	-	14	2073	c.1759G>A	c.(1759-1761)GAA>AAA	p.E587K	PCSK6_uc010bpd.2_Missense_Mutation_p.E383K|PCSK6_uc010bpe.2_Missense_Mutation_p.E587K|PCSK6_uc002bxa.2_Missense_Mutation_p.E587K|PCSK6_uc002bxb.2_Missense_Mutation_p.E587K|PCSK6_uc002bxc.1_Missense_Mutation_p.E587K|PCSK6_uc002bxd.1_Missense_Mutation_p.E587K|PCSK6_uc002bxe.2_Missense_Mutation_p.E587K|PCSK6_uc002bxf.1_Missense_Mutation_p.E87K	NM_002570	NP_002561	P29122	PCSK6_HUMAN	paired basic amino acid cleaving system 4	587	Homo B/P.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			pancreas(2)	2	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCATGAATTCCCAGTTTGTA	0.542		NaN											0	0	0	0.001984	0	7	61				
CCDC78	124093	broad.mit.edu	37	16	775278	775278	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:775278T>C	uc002cjg.2	-	5	557	c.451A>G	c.(451-453)ACC>GCC	p.T151A	CCDC78_uc002cjf.2_5'UTR|CCDC78_uc002cji.3_Missense_Mutation_p.T225A|CCDC78_uc002cjj.3_Missense_Mutation_p.T95A|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.T151A|CCDC78_uc002cjk.2_Missense_Mutation_p.T140A|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	151										central_nervous_system(1)	1		Hepatocellular(780;0.0218)				GGGTTCATGGTGTTCTTGGGC	0.632		NaN											0	0	0	0.00361	0	61	90				
RPUSD1	113000	broad.mit.edu	37	16	836923	836923	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:836923C>T	uc002cka.2	-	4	649	c.415G>A	c.(415-417)GAG>AAG	p.E139K	RPUSD1_uc002ckb.2_Missense_Mutation_p.E139K|RPUSD1_uc002ckc.2_Missense_Mutation_p.E10K|RPUSD1_uc002ckd.2_Silent_p.V104V|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing	139					pseudouridine synthesis		pseudouridine synthase activity|RNA binding				0		Hepatocellular(780;0.00335)				TTTGGGTTCTCACAACCTGGG	0.647		NaN											0	0	0	0.002299	0	21	85				
BAIAP3	8938	broad.mit.edu	37	16	1395092	1395092	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:1395092C>G	uc002clk.1	+	21	2037	c.2037C>G	c.(2035-2037)ATC>ATG	p.I679M	BAIAP3_uc002clj.2_Missense_Mutation_p.I661M|BAIAP3_uc010uuz.1_Missense_Mutation_p.I644M|BAIAP3_uc010uva.1_Missense_Mutation_p.I616M|BAIAP3_uc010uvc.1_Missense_Mutation_p.I608M	NM_003933	NP_003924	O94812	BAIP3_HUMAN	BAI1-associated protein 3	679	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			pancreas(1)	1		Hepatocellular(780;0.0893)				GGGATAGCATCCCTGGCCGGT	0.647		NaN											0	0	0	0.006999	0	41	111				
SRRM2	23524	broad.mit.edu	37	16	2808993	2808993	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:2808993G>A	uc002crk.2	+	6	1150	c.601G>A	c.(601-603)GAG>AAG	p.E201K	SRRM2_uc002crj.1_Missense_Mutation_p.E105K|SRRM2_uc002crl.1_Missense_Mutation_p.E201K|SRRM2_uc010bsu.1_Missense_Mutation_p.E105K	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	201	Sufficient for RNA-binding.|Lys-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TAGCAGGTCAGAGAGCAGCTC	0.453		NaN											0	0	0	0.006122	0	18	35				
OR1F1	4992	broad.mit.edu	37	16	3254779	3254779	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:3254779T>C	uc010uwu.1	+	1	533	c.533T>C	c.(532-534)TTC>TCC	p.F178S		NM_012360	NP_036492	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F,	178	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						ACTCACTTCTTCTGCGATGTG	0.507		NaN											0	0	0	0.006999	0	41	110				
NAGPA	51172	broad.mit.edu	37	16	5083318	5083318	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:5083318C>T	uc002cyg.2	-	2	519	c.498G>A	c.(496-498)CAG>CAA	p.Q166Q	ALG1_uc002cyj.2_5'Flank|NAGPA_uc002cyf.2_Silent_p.Q24Q|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Silent_p.Q24Q|NAGPA_uc010uxx.1_Intron	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester	166	Lumenal (Potential).				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity				0					N-Acetyl-D-glucosamine(DB00141)	ACTGCGCGTTCTGCAGCCCCC	0.697		NaN											0	0	0	0.003163	0	14	22				
ALG1	56052	broad.mit.edu	37	16	5123184	5123184	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:5123184A>T	uc002cym.2	+	3	358	c.317A>T	c.(316-318)AAA>ATA	p.K106I	ALG1_uc002cyj.2_5'UTR|ALG1_uc002cyn.2_Missense_Mutation_p.K106I|ALG1_uc010bue.2_5'UTR|ALG1_uc010uxy.1_5'UTR	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	beta-1,4-mannosyltransferase	106	Lumenal (Potential).				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			upper_aerodigestive_tract(1)|ovary(1)	2		Ovarian(90;0.0164)				TACGGAGTCAAAGTTGTACTT	0.507		NaN											0	0	0	0.00499	0	16	72				
GRIN2A	2903	broad.mit.edu	37	16	9857968	9857968	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:9857968C>T	uc002czo.3	-	13	3981	c.3433G>A	c.(3433-3435)GTG>ATG	p.V1145M	GRIN2A_uc010uym.1_Missense_Mutation_p.V1145M|GRIN2A_uc010uyn.1_Missense_Mutation_p.V988M|GRIN2A_uc002czr.3_Missense_Mutation_p.V1145M	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	1145	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGGAAGTCCACGTTCTCGGGC	0.537		NaN											0	0	0	0.00361	0	48	168				
SMG1	23049	broad.mit.edu	37	16	18864945	18864945	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:18864945C>T	uc002dfm.2	-	31	5091	c.4728G>A	c.(4726-4728)ACG>ACA	p.T1576T	SMG1_uc010bwb.2_Silent_p.T1436T|SMG1_uc010bwa.2_Silent_p.T307T	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	1576	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						CTTCTTCCATCGTATTAACAG	0.348		NaN											0	0	0	0.001984	0	7	25				
CP110	9738	broad.mit.edu	37	16	19539318	19539318	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:19539318C>T	uc002dgl.3	+	2	362	c.115C>T	c.(115-117)CAT>TAT	p.H39Y	CP110_uc002dgk.3_Missense_Mutation_p.H39Y			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	39	CEP97 binding.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0						TATTCGCTTTCATGGAGTGGC	0.333		NaN											0	0	0	0.003755	0	30	78				
C16orf62	57020	broad.mit.edu	37	16	19656273	19656273	+	Splice_Site	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:19656273T>C	uc002dgn.1	+	23	1941	c.1929_splice	c.e23+2	p.M643_splice	C16orf62_uc002dgo.1_Splice_Site_p.M576_splice|C16orf62_uc002dgp.1_Splice_Site_p.M392_splice	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	hypothetical protein LOC57020							integral to membrane				ovary(1)	1						ATAAAAATGGTAAGTATTAGG	0.338		NaN											0	0	0	0.006122	0	16	51				
PDILT	204474	broad.mit.edu	37	16	20410448	20410448	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:20410448G>T	uc002dhc.1	-	2	398	c.175C>A	c.(175-177)CAG>AAG	p.Q59K		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis	59					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			large_intestine(1)	1						AAGCGGGTCTGGTTCAGCATC	0.587		NaN											1	0	9.39395e-14	0.00632	1.21358e-13	27	77				
DNAH3	55567	broad.mit.edu	37	16	20975839	20975839	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:20975839T>C	uc010vbe.1	-	53	9367	c.9367A>G	c.(9367-9369)ACC>GCC	p.T3123A	DNAH3_uc010vbd.1_Missense_Mutation_p.T558A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3123	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)		AAGACAGGGGTGCCTAACTGC	0.438		NaN											0	0	0	0.00361	0	62	197				
GTF3C1	2975	broad.mit.edu	37	16	27472877	27472877	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:27472877C>T	uc002dov.1	-	37	6164	c.6124G>A	c.(6124-6126)GAG>AAG	p.E2042K	GTF3C1_uc002dou.2_Missense_Mutation_p.E2017K	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	2042						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						CCGAGGGACTCCAGGCCCTGG	0.493		NaN											0	0	0	0.004656	0	23	55				
SH2B1	25970	broad.mit.edu	37	16	28883959	28883959	+	Silent	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:28883959T>A	uc002dri.2	+	10	2269	c.1830T>A	c.(1828-1830)CCT>CCA	p.P610P	uc010vct.1_Intron|SH2B1_uc010vdc.1_Silent_p.P300P|SH2B1_uc002drj.2_Silent_p.P610P|SH2B1_uc002drk.2_Silent_p.P610P|SH2B1_uc002drl.2_Silent_p.P610P|SH2B1_uc010vdd.1_Silent_p.P274P|SH2B1_uc010vde.1_Silent_p.P610P|SH2B1_uc002drm.2_Silent_p.P610P	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1 isoform 1	610	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			ovary(2)	2						ACCCCATCCCTTTGGAGTCGG	0.602		NaN											0	0	0	0.002222	0	42	90				
ATP2A1	487	broad.mit.edu	37	16	28914209	28914209	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:28914209C>T	uc002dro.1	+	19	2905	c.2721C>T	c.(2719-2721)ATC>ATT	p.I907I	uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.I907I|ATP2A1_uc002drp.1_Silent_p.I782I	NM_173201	NP_775293	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, fast twitch 1 isoform	907	Helical; Name=8; (By similarity).				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						TGGTGACCATCGAGATGTGCA	0.637		NaN											0	0	0	0.003163	0	16	30				
NFATC2IP	84901	broad.mit.edu	37	16	28963486	28963486	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:28963486C>G	uc002dru.2	+	2	436	c.421C>G	c.(421-423)CTA>GTA	p.L141V	uc010vct.1_Intron|NFATC2IP_uc002drt.2_Translation_Start_Site|NFATC2IP_uc010vdg.1_Missense_Mutation_p.L141V	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells,	141						cytoplasm|nucleus				ovary(1)	1						CCCAGATGATCTATCCCTCCT	0.542		NaN											0	0	0	0.00361	0	48	106				
TAOK2	9344	broad.mit.edu	37	16	29994162	29994162	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:29994162G>A	uc002dva.1	+	11	1722	c.939G>A	c.(937-939)AAG>AAA	p.K313K	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Silent_p.K313K|TAOK2_uc002dvc.1_Silent_p.K313K|TAOK2_uc010bzm.1_Silent_p.K313K|TAOK2_uc002dvd.1_Silent_p.K140K	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	313					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1						GCAAGATGAAGAAGATCCTGT	0.602		NaN											0	0	0	0.004289	0	36	97				
PRSS36	146547	broad.mit.edu	37	16	31157215	31157215	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:31157215G>A	uc002ebd.2	-	6	674	c.615C>T	c.(613-615)ACC>ACT	p.T205T	PRSS36_uc010vff.1_5'UTR|PRSS36_uc010vfg.1_Silent_p.T205T|PRSS36_uc010vfh.1_Silent_p.T205T	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	protease, serine, 36 precursor	205	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			ovary(1)	1						GACATTGACAGGTGGCCTCGC	0.612		NaN											0	0	0	0.001855	0	14	41				
ITGAM	3684	broad.mit.edu	37	16	31288291	31288291	+	Silent	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:31288291C>G	uc002ebq.2	+	11	1232	c.1134C>G	c.(1132-1134)GTC>GTG	p.V378V	ITGAM_uc002ebr.2_Silent_p.V378V|ITGAM_uc010cam.1_Silent_p.V29V	NM_000632	NP_000623	P11215	ITAM_HUMAN	integrin alpha M isoform 2 precursor	378	FG-GAP 3.|Extracellular (Potential).				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			kidney(1)	1						CTGGTGGAGTCTTTCTATATA	0.498		NaN											0	0	0	0.000978	0	12	18				
COQ9	57017	broad.mit.edu	37	16	57492236	57492236	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:57492236C>G	uc002elq.2	+	6	701	c.685C>G	c.(685-687)CAT>GAT	p.H229D	COQ9_uc002elr.2_Missense_Mutation_p.H194D|COQ9_uc002els.2_Missense_Mutation_p.H22D	NM_020312	NP_064708	O75208	COQ9_HUMAN	coenzyme Q9 homolog precursor	229					ubiquinone biosynthetic process	mitochondrion				breast(1)	1						TGACATGTGGCATTACGCTGG	0.547		NaN											0	0	0	0.000602	0	4	7				
POLR2C	5432	broad.mit.edu	37	16	57496641	57496641	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:57496641C>T	uc002elt.1	+	1	91	c.5C>T	c.(4-6)CCG>CTG	p.P2L	POLR2C_uc010vhq.1_Missense_Mutation_p.P2L	NM_032940	NP_116558	P19387	RPB3_HUMAN	DNA directed RNA polymerase II polypeptide C	2					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity				0						GGCGAGATGCCGTACGCCAAC	0.652		NaN									OREG0023826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	5	14				
GPR114	221188	broad.mit.edu	37	16	57596033	57596033	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:57596033T>C	uc002elx.3	+	2	113	c.28T>C	c.(28-30)TGC>CGC	p.C10R	GPR114_uc010vhr.1_Missense_Mutation_p.C10R|GPR114_uc002ely.2_Missense_Mutation_p.C10R	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	10					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1						CCTTTTCCTGTGCCTGTGCCT	0.552		NaN											0	0	0	0.004289	0	36	76				
CNOT1	23019	broad.mit.edu	37	16	58621689	58621689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:58621689G>A	uc002env.2	-	4	597	c.304C>T	c.(304-306)CAG>TAG	p.Q102*	CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Nonsense_Mutation_p.Q102*|CNOT1_uc002enx.2_Nonsense_Mutation_p.Q102*|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	102					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCAACCTTCTGATAGTGCAAT	0.363		NaN											0	0	0	0.003954	0	24	57				
KCTD19	146212	broad.mit.edu	37	16	67323569	67323569	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:67323569G>T	uc002esu.2	-	16	2735	c.2684C>A	c.(2683-2685)GCC>GAC	p.A895D	KCTD19_uc002est.2_Missense_Mutation_p.A667D|KCTD19_uc010vjj.1_Missense_Mutation_p.A638D	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	potassium channel tetramerisation domain	895						voltage-gated potassium channel complex	voltage-gated potassium channel activity			skin(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATATTTCCTGGCGAAGGGCAG	0.542		NaN											1	0	0.000219431	0.00245	0.000266672	15	64				
COG8	84342	broad.mit.edu	37	16	69370492	69370492	+	Silent	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:69370492C>G	uc002ewy.2	-	2	572	c.501G>C	c.(499-501)CGG>CGC	p.R167R	COG8_uc002ewz.3_Silent_p.R167R	NM_032382	NP_115758	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	167					protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1						AATAACTGTTCCGGACACAGG	0.522		NaN											0	0	0	0.005443	0	28	62				
DDX19B	11269	broad.mit.edu	37	16	70367484	70367484	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:70367484G>A	uc002eyo.2	+	12	1568	c.1439G>A	c.(1438-1440)TGA>TAA	p.*480*	DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Silent_p.*454*|DDX19B_uc010vlw.1_Silent_p.*371*|DDX19B_uc002eyp.2_Silent_p.*449*|DDX19B_uc002eyq.2_Silent_p.*371*|DDX19B_uc002eyr.2_Silent_p.*329*|DDX19B_uc010vlx.1_Silent_p.*329*|uc002eyt.2_Intron	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform	480					mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			kidney(1)	1		Ovarian(137;0.0694)				ATAGCCAACTGAGAAGCTCCA	0.537		NaN											0	0	0	0.00361	0	130	162				
FUK	197258	broad.mit.edu	37	16	70506488	70506488	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:70506488C>T	uc002eyy.2	+	14	1444	c.1386C>T	c.(1384-1386)TTC>TTT	p.F462F	FUK_uc010cft.2_Silent_p.F494F|FUK_uc002eyz.2_5'UTR	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	fucokinase	462						cytoplasm	ATP binding|fucokinase activity			ovary(1)	1		Ovarian(137;0.0694)				GGAGTGAATTCTTCAAGAGGA	0.607		NaN											0	0	0	0.001984	0	6	17				
COG4	25839	broad.mit.edu	37	16	70543163	70543163	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:70543163A>G	uc002ezc.2	-	7	984	c.973T>C	c.(973-975)TTC>CTC	p.F325L	COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.F325L|COG4_uc002eze.2_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	321					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding				0		Ovarian(137;0.0694)				TGCTTGATGAACTTGTCTACC	0.483		NaN											0	0	0	0.006214	0	9	298				
ATP2C2	9914	broad.mit.edu	37	16	84444355	84444355	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:84444355C>T	uc002fhx.2	+	6	588	c.499C>T	c.(499-501)CCT>TCT	p.P167S	ATP2C2_uc010chj.2_Missense_Mutation_p.P167S|ATP2C2_uc002fhy.2_Missense_Mutation_p.P184S|ATP2C2_uc002fhz.2_Intron	NM_014861	NP_055676	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	167	Cytoplasmic (Potential).				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2						CAAGATGGTTCCTCCAGAATG	0.507		NaN											0	0	0	0.002299	0	23	73				
TCF25	22980	broad.mit.edu	37	16	89962447	89962447	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:89962447C>T	uc002fpb.2	+	9	1060	c.978C>T	c.(976-978)CTC>CTT	p.L326L	TCF25_uc002fpc.2_Silent_p.L91L	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	NULP1	326					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TGTTCAGTCTCACCAGTGGGG	0.632		NaN											0	0	0	0.00245	0	10	35				
SGSM2	9905	broad.mit.edu	37	17	2264993	2264993	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:2264993G>C	uc002fun.3	+	3	371	c.196G>C	c.(196-198)GAC>CAC	p.D66H	SGSM2_uc002fum.3_Missense_Mutation_p.D66H|SGSM2_uc010vqw.1_Missense_Mutation_p.D66H	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	66	RUN.					intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCTGCGCAGTGACAAGATGGC	0.607		NaN											0	0	0	0.00245	0	13	61				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:7578406C>T	uc002gim.2	-	5	718	c.524G>A	c.(523-525)CGC>CAC	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	175	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			0	0	0	0.00361	0	52	36		Valid		
CYB5D1	124637	broad.mit.edu	37	17	7761743	7761743	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:7761743C>T	uc002gjb.3	+	2	572	c.183C>T	c.(181-183)ATC>ATT	p.I61I	LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_Silent_p.I61I	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	61	Cytochrome b5 heme-binding.						heme binding			skin(1)	1		all_cancers(10;0.11)|Prostate(122;0.219)				TGAAACCCATCGTGGAAGTTG	0.542		NaN									OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00632	0	28	31				
GAS7	8522	broad.mit.edu	37	17	10101629	10101629	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:10101629C>T	uc002gmg.1	-	1	240	c.79G>A	c.(79-81)GAG>AAG	p.E27K		NM_201433	NP_958839	O60861	GAS7_HUMAN	growth arrest-specific 7 isoform c	27	SH3.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			lung(1)|pancreas(1)	2						GTGATCAGCTCGCCCGCGGCG	0.721		NaN	T	MLL	AML*								0	0	0	0.007413	0	18	56				
TOP3A	7156	broad.mit.edu	37	17	18217940	18217940	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:18217940G>C	uc002gsx.1	-	1	382	c.153C>G	c.(151-153)GAC>GAG	p.D51E	SMCR8_uc002gsy.3_5'Flank|TOP3A_uc010vxs.1_5'UTR|TOP3A_uc010cqa.1_RNA	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	51	Toprim.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						TTGACAGCAGGTCGGCGATCC	0.652		NaN											0	0	0	0.00499	0	14	41				
CCDC144B	284047	broad.mit.edu	37	17	18513444	18513444	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:18513444C>T	uc002gub.1	-	3	662	c.577G>A	c.(577-579)GAC>AAC	p.D193N	CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA|CCDC144B_uc002guc.1_Missense_Mutation_p.D193N	NM_182568	NP_872374			coiled-coil domain containing 144B											ovary(1)|skin(1)	2						ACTCCAGTGTCCATTTTTTCT	0.418		NaN											0	0	0	0.00361	0	65	474				
RNF112	7732	broad.mit.edu	37	17	19316617	19316617	+	Silent	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:19316617A>C	uc010vyw.1	+	5	812	c.613A>C	c.(613-615)AGA>CGA	p.R205R	RNF112_uc010vyu.1_3'UTR|RNF112_uc010vyv.1_Silent_p.R205R|RNF112_uc010vyx.1_Silent_p.R88R	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	205							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						CGGCCGGCCAAGAGGAGGAGA	0.637		NaN											0	0	0	0.002299	0	22	50				
SLC47A2	146802	broad.mit.edu	37	17	19618059	19618059	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:19618059G>A	uc002gwe.3	-	3	444	c.269C>T	c.(268-270)TCG>TTG	p.S90L	SLC47A2_uc002gwg.3_Missense_Mutation_p.S90L|SLC47A2_uc002gwf.3_Missense_Mutation_p.S90L|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	solute carrier family 47, member 2 isoform 1	90	Cytoplasmic (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GTCACATGCCGAAGACAAACC	0.567		NaN											0	0	0	0.00361	0	65	229				
CYTSB	92521	broad.mit.edu	37	17	20108350	20108350	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:20108350G>C	uc002gwq.2	+	4	1133	c.988G>C	c.(988-990)GAC>CAC	p.D330H	CYTSB_uc010cqx.2_Missense_Mutation_p.D330H|CYTSB_uc002gwr.2_Missense_Mutation_p.D330H|CYTSB_uc002gws.2_Missense_Mutation_p.D330H|CYTSB_uc002gwv.2_Missense_Mutation_p.D249H|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.D106H|CYTSB_uc002gwt.2_Missense_Mutation_p.D249H|CYTSB_uc002gwu.2_Missense_Mutation_p.D249H	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN	spectrin domain with coiled-coils 1 NSP5b3b	330	Ser-rich.			D -> N (in Ref. 5; AAH50058).		nucleus					0						AGATGCTTCCGACTTTGAGCA	0.458		NaN											0	0	0	0.006214	0	7	239				
SLC46A1	113235	broad.mit.edu	37	17	26732963	26732963	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:26732963T>G	uc002hbf.1	-	1	266	c.170A>C	c.(169-171)TAC>TCC	p.Y57S	SLC46A1_uc002hbg.1_Missense_Mutation_p.Y57S|SLC46A1_uc010wak.1_Missense_Mutation_p.Y57S	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN	proton-coupled folate transporter	57					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	GGTGCCATTGTAGCCGAGGTC	0.692		NaN											0	0	0	0.000248	0	3	17				
TRAF4	9618	broad.mit.edu	37	17	27076071	27076071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:27076071C>T	uc002hcs.2	+	7	997	c.889C>T	c.(889-891)CGA>TGA	p.R297*	TRAF4_uc002hcq.1_Intron	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	297	Potential.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			upper_aerodigestive_tract(1)|lung(1)	2	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GGAGCTTCGGCGAGAGCTGGA	0.617		NaN											0	0	0	0.003271	0	34	63				
CCDC55	84081	broad.mit.edu	37	17	28506137	28506137	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:28506137A>G	uc002heu.2	+	5	358	c.330A>G	c.(328-330)GCA>GCG	p.A110A	CCDC55_uc002hev.2_Silent_p.A56A|CCDC55_uc010wbl.1_Silent_p.A56A|CCDC55_uc010wbm.1_Silent_p.A56A|CCDC55_uc002hex.2_Silent_p.A56A	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN	coiled-coil domain containing 55 isoform 1	110	Necessary for alternative splicing activity.|Potential.				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding				0						TGCTAAAAGCAGTTGAGATCA	0.274		NaN											0	0	0	0.006214	0	7	17				
RHBDL3	162494	broad.mit.edu	37	17	30632423	30632423	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:30632423A>G	uc002hhe.1	+	7	859	c.845A>G	c.(844-846)TAT>TGT	p.Y282C	RHBDL3_uc010csw.1_Missense_Mutation_p.Y274C|RHBDL3_uc010csx.1_Intron|RHBDL3_uc010csy.1_Missense_Mutation_p.Y184C|RHBDL3_uc002hhf.1_Missense_Mutation_p.Y184C	NM_138328	NP_612201	P58872	RHBL3_HUMAN	rhomboid protease 3	282	Helical; (Potential).				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)				GGAGGGGTGTATGCTCTCGTC	0.567		NaN											0	0	0	0.004878	0	37	97				
MMP28	79148	broad.mit.edu	37	17	34105915	34105915	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:34105915C>A	uc002hjy.1	-	3	615	c.356G>T	c.(355-357)CGT>CTT	p.R119L	MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA|MMP28_uc002hka.2_Missense_Mutation_p.R119L	NM_024302	NP_077278	Q9H239	MMP28_HUMAN	matrix metalloproteinase 28 isoform 1	119					proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCGTTTCTTACGCCTCATTTT	0.507		NaN											1	0	4.90274e-10	0.00623	6.17001e-10	37	104				
CCL14	6358	broad.mit.edu	37	17	34310878	34310878	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:34310878T>C	uc010wcr.1	-	3	320	c.241A>G	c.(241-243)AAG>GAG	p.K81E	CCL16_uc002hkl.2_5'Flank|CCL16_uc002hkm.2_5'Flank|CCL14_uc010wcq.1_Missense_Mutation_p.K97E|CCL14_uc002hkn.2_RNA|CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA|uc002hkq.2_5'Flank	NM_032963	NP_116739	Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14 isoform 1	81					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGACCCACTTGTCACTGGGG	0.547		NaN											0	0	0	0.003271	0	32	102				
CDC6	990	broad.mit.edu	37	17	38458227	38458227	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:38458227A>G	uc002huj.1	+	12	1867	c.1657A>G	c.(1657-1659)AAT>GAT	p.N553D		NM_001254	NP_001245	Q99741	CDC6_HUMAN	cell division cycle 6 protein	553					cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			ovary(2)|breast(1)	3						TTTAATTGGAAATATCTTAGC	0.363		NaN											0	0	0	0.00361	0	48	131				
TOP2A	7153	broad.mit.edu	37	17	38567656	38567656	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:38567656C>T	uc002huq.2	-	9	1141	c.1015G>A	c.(1015-1017)GAT>AAT	p.D339N	TOP2A_uc002hur.1_5'UTR	NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme	339					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTCACAACATCAACAAGTTTA	0.358		NaN											0	0	0	0.00361	0	58	287				
KRTAP1-5	83895	broad.mit.edu	37	17	39183134	39183134	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:39183134C>T	uc002hvu.2	-	1	321	c.274G>A	c.(274-276)GGA>AGA	p.G92R		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	keratin associated protein 1.5	92	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament					0		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCCAGTTCCGCAGGAGCTG	0.627		NaN											0	0	0	0.001984	0	7	62				
JUP	3728	broad.mit.edu	37	17	39925391	39925391	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:39925391C>T	uc002hxq.2	-	4	814	c.537G>A	c.(535-537)CTG>CTA	p.L179L	JUP_uc010wfs.1_Silent_p.L179L|JUP_uc002hxr.2_Silent_p.L179L|JUP_uc002hxs.2_Silent_p.L179L	NM_021991	NP_068831	P14923	PLAK_HUMAN	junction plakoglobin	179					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			ovary(2)|lung(2)|breast(1)	5		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCGAGCCCATCAGGGCCCGCC	0.657		NaN											0	0	0	0.004007	0	16	42				
ACLY	47	broad.mit.edu	37	17	40025748	40025748	+	Silent	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:40025748T>A	uc002hyg.2	-	26	3193	c.3030A>T	c.(3028-3030)GTA>GTT	p.V1010V	ACLY_uc002hyh.2_Silent_p.V1000V|ACLY_uc002hyi.2_Silent_p.V1064V|ACLY_uc010wfx.1_Silent_p.V1054V|ACLY_uc010wfy.1_Silent_p.V739V	NM_001096	NP_001087	P53396	ACLY_HUMAN	ATP citrate lyase isoform 1	1010					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)				TAATCTTCTCTACTTCCAGTG	0.438		NaN											0	0	0	0.00361	0	45	107				
WNK4	65266	broad.mit.edu	37	17	40947024	40947024	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:40947024C>T	uc002ibj.2	+	14	2606	c.2585C>T	c.(2584-2586)CCA>CTA	p.P862L	WNK4_uc010wgx.1_Missense_Mutation_p.P526L|WNK4_uc002ibk.1_Missense_Mutation_p.P634L	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	862					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ACCAGCTCTCCACTTCCATTC	0.582		NaN											0	0	0	0.00361	0	51	121				
C17orf57	124989	broad.mit.edu	37	17	45455230	45455230	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:45455230G>A	uc002iln.2	+	13	1882	c.1471G>A	c.(1471-1473)GAA>AAA	p.E491K	C17orf57_uc002ilm.2_Missense_Mutation_p.E395K|C17orf57_uc010daz.1_Missense_Mutation_p.E443K	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	hypothetical protein LOC124989	491	EF-hand 1.						calcium ion binding			breast(1)|central_nervous_system(1)|skin(1)	3						TTTATTAGATGAAGAATTCCA	0.323		NaN											0	0	0	0.00278	0	22	71				
SPATA20	64847	broad.mit.edu	37	17	48628506	48628506	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:48628506C>T	uc002irf.2	+	11	1624	c.1483C>T	c.(1483-1485)CGG>TGG	p.R495W	SPATA20_uc002irc.2_Missense_Mutation_p.R162W|SPATA20_uc002ire.2_Missense_Mutation_p.R451W|SPATA20_uc002ird.2_Missense_Mutation_p.R511W|SPATA20_uc002irg.2_RNA	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	495					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding				0	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCGGAAGCATCGGCCCAAGCC	0.627		NaN									OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.000602	0	5	21				
SFRS1	6426	broad.mit.edu	37	17	56082801	56082801	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:56082801G>A	uc002ivi.2	-	4	922	c.713C>T	c.(712-714)TCT>TTT	p.S238F	SFRS1_uc002ivj.2_3'UTR	NM_006924	NP_008855	Q07955	SRSF1_HUMAN	splicing factor, arginine/serine-rich 1 isoform	238	Arg/Ser-rich (RS domain).|Interacts with SAFB1.			Missing: In RS-C; loss of ability to activate splicing but retains splice site switching.|Missing: In MR-A; loss of ability to activate splicing.|Missing: In MR-B; strongly inhibits splicing.|Missing: In RS-B; retains both splice activation and splice site switching activity.	mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding				0		Colorectal(1115;0.0691)		LUAD - Lung adenocarcinoma(1115;0.247)		ATGACGGGGAGAATAGCGTGG	0.468		NaN											0	0	0	0.00361	0	57	178				
CLTC	1213	broad.mit.edu	37	17	57763022	57763022	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:57763022A>C	uc002ixq.1	+	30	5123	c.4680A>C	c.(4678-4680)GAA>GAC	p.E1560D	CLTC_uc002ixp.2_Missense_Mutation_p.E1560D|CLTC_uc002ixr.1_Missense_Mutation_p.E1564D	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	1560	Heavy chain arm.|Proximal segment.|Trimerization (By similarity).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTTGCAGGAAGAAAAAAGAG	0.398		NaN	T	ALK|TFE3	ALCL|renal 								0	0	0	0.007835	0	38	110				
CSHL1	1444	broad.mit.edu	37	17	61987572	61987572	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:61987572C>T	uc002jda.1	-	4	483	c.421G>A	c.(421-423)GAC>AAC	p.D141N	CSHL1_uc002jcz.1_Missense_Mutation_p.D118N|CSHL1_uc002jdb.1_Missense_Mutation_p.D47N|CSHL1_uc002jdc.1_Missense_Mutation_p.D58N|CSHL1_uc002jdd.1_Missense_Mutation_p.D79N|CSHL1_uc002jde.2_3'UTR|CSHL1_uc002jdf.2_Missense_Mutation_p.D58N|CSHL1_uc002jdg.2_3'UTR|CSHL1_uc002jdh.2_Missense_Mutation_p.D47N	NM_022579	NP_072101	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	141						extracellular region	hormone activity|metal ion binding				0						AGGTGATAGTCATCGCTGTCC	0.592		NaN											0	0	0	0.002222	0	38	84				
RGS9	8787	broad.mit.edu	37	17	63156668	63156668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:63156668G>A	uc002jfe.2	+	5	437	c.327G>A	c.(325-327)TGG>TGA	p.W109*	RGS9_uc010dem.2_Nonsense_Mutation_p.W109*|RGS9_uc002jfd.2_Nonsense_Mutation_p.W109*|RGS9_uc002jff.2_RNA	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	109					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						CGTATTTCTGGCCCACCCAGC	0.468		NaN											0	0	0	0.004007	0	17	45				
ABCA5	23461	broad.mit.edu	37	17	67257837	67257837	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:67257837G>A	uc002jif.2	-	24	4586	c.3368C>T	c.(3367-3369)GCT>GTT	p.A1123V	ABCA5_uc002jib.2_Missense_Mutation_p.A89V|ABCA5_uc002jic.2_Missense_Mutation_p.A346V|ABCA5_uc002jid.2_Missense_Mutation_p.A40V|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.A1123V	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A , member 5	1123					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;3.72e-11)					GGTGAAAGAAGCAATATAAGT	0.274		NaN											0	0	0	0.000978	0	9	25				
TTYH2	94015	broad.mit.edu	37	17	72249233	72249233	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:72249233G>A	uc002jkc.2	+	12	1304	c.1273G>A	c.(1273-1275)GAT>AAT	p.D425N	TTYH2_uc010wqw.1_Missense_Mutation_p.D404N|TTYH2_uc002jkd.2_Missense_Mutation_p.D104N	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	425	Cytoplasmic (Potential).|Poly-Asp.					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						CAGAGACTACGATGACATTGA	0.572		NaN											0	0	0	0.00361	0	72	172				
DNAI2	64446	broad.mit.edu	37	17	72308171	72308171	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:72308171G>C	uc002jkf.2	+	12	1623	c.1524G>C	c.(1522-1524)AAG>AAC	p.K508N	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	508					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						GGCGAGAGAAGATCCTGGAGG	0.657		NaN							Kartagener_syndrome				0	0	0	0.00632	0	24	44				
GRIN2C	2905	broad.mit.edu	37	17	72838777	72838777	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:72838777G>A	uc002jlt.1	-	13	3655	c.3499C>T	c.(3499-3501)CAC>TAC	p.H1167Y	GRIN2C_uc010wrh.1_RNA	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	N-methyl-D-aspartate receptor subunit 2C	1167	Cytoplasmic (Potential).				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			ovary(2)|breast(2)	4	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GGTGGAAGGTGAGGACAGACA	0.711		NaN											0	0	0	0.001168	0	6	11				
KIAA0195	9772	broad.mit.edu	37	17	73489996	73489996	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:73489996C>T	uc002jnz.3	+	18	2681	c.2406C>T	c.(2404-2406)GAC>GAT	p.D802D	KIAA0195_uc010wsa.1_Silent_p.D812D|KIAA0195_uc010wsb.1_Silent_p.D442D|KIAA0195_uc002job.3_5'Flank	NM_014738	NP_055553	Q12767	K0195_HUMAN	hypothetical protein LOC9772	802					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAGCTCTGACGGTACCTCAT	0.692		NaN											0	0	0	0.001368	0	7	29				
LLGL2	3993	broad.mit.edu	37	17	73559178	73559178	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:73559178C>T	uc002joh.2	+	7	766	c.612C>T	c.(610-612)ATC>ATT	p.I204I	LLGL2_uc002jog.1_Silent_p.I204I|LLGL2_uc010dgf.1_Silent_p.I204I|LLGL2_uc002joi.2_Silent_p.I204I|LLGL2_uc010dgg.1_Silent_p.I204I|LLGL2_uc002joj.2_Silent_p.I193I|LLGL2_uc010wsd.1_5'Flank|uc002jok.2_5'Flank	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	204	WD 4.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCAACCAGATCCTGATCGGCT	0.657		NaN											0	0	0	0.00632	0	26	36				
LLGL2	3993	broad.mit.edu	37	17	73559467	73559467	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:73559467C>G	uc002joh.2	+	8	903	c.749C>G	c.(748-750)TCT>TGT	p.S250C	LLGL2_uc002jog.1_Missense_Mutation_p.S250C|LLGL2_uc010dgf.1_Missense_Mutation_p.S250C|LLGL2_uc002joi.2_Missense_Mutation_p.S250C|LLGL2_uc010dgg.1_Missense_Mutation_p.S250C|LLGL2_uc002joj.2_Missense_Mutation_p.S239C|LLGL2_uc010wsd.1_5'Flank|uc002jok.2_5'Flank	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 isoform c	250	WD 5.				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			ovary(2)	2	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGCTGTCACTCTGACGGCAGC	0.652		NaN											0	0	0	0.007413	0	17	61				
EVPL	2125	broad.mit.edu	37	17	74003727	74003727	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:74003727G>A	uc002jqi.2	-	22	5787	c.5559C>T	c.(5557-5559)ATC>ATT	p.I1853I	EVPL_uc010wss.1_Silent_p.I1875I|EVPL_uc010wst.1_Silent_p.I1323I	NM_001988	NP_001979	Q92817	EVPL_HUMAN	envoplakin	1853	Globular 2.|Plectin 3.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			pancreas(2)|central_nervous_system(1)|skin(1)	4						TCTGCCCAGTGATGGGGTCCA	0.612		NaN											0	0	0	0.00361	0	58	155				
SRP68	6730	broad.mit.edu	37	17	74068493	74068493	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:74068493C>T	uc002jqk.1	-	1	115	c.80G>A	c.(79-81)AGC>AAC	p.S27N	SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_Missense_Mutation_p.S27N|GALR2_uc002jqm.1_5'Flank	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	27				Missing (in Ref. 1).	response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			ovary(1)	1						Tccaccgccgctaccgccgcc	0.378		NaN											0	0	0	0.008361	0	25	48				
EXOC7	23265	broad.mit.edu	37	17	74085384	74085384	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:74085384C>A	uc002jqs.2	-	9	1167	c.1072G>T	c.(1072-1074)GAC>TAC	p.D358Y	EXOC7_uc010dgv.1_Missense_Mutation_p.D254Y|EXOC7_uc002jqq.2_Missense_Mutation_p.D307Y|EXOC7_uc010wsw.1_Missense_Mutation_p.D330Y|EXOC7_uc010wsx.1_Missense_Mutation_p.D299Y|EXOC7_uc002jqr.2_Missense_Mutation_p.D276Y|EXOC7_uc010wsv.1_Missense_Mutation_p.D266Y	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7 isoform 4	358					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)			GTCTCCACGTCCAGCATGTCA	0.647		NaN											1	0	4.96729e-08	0.008871	6.16165e-08	20	32				
USP36	57602	broad.mit.edu	37	17	76817134	76817134	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:76817134G>T	uc002jvz.1	-	8	1092	c.767C>A	c.(766-768)TCC>TAC	p.S256Y	USP36_uc002jwa.1_Missense_Mutation_p.S256Y|USP36_uc002jwc.1_5'UTR	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	256					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|kidney(1)	5			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CTTGCACACGGAGCACTTCAC	0.607		NaN											1	0	2.0095e-06	0.001984	2.46908e-06	7	3				
CARD14	79092	broad.mit.edu	37	17	78166356	78166356	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:78166356G>T	uc002jxw.1	+	9	1489	c.1294G>T	c.(1294-1296)GTG>TTG	p.V432L	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.V432L|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Missense_Mutation_p.V195L|CARD14_uc010dhu.1_Missense_Mutation_p.V230L	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	432					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCAGCGGCTGGTGCGGATGCA	0.637		NaN											1	0	1.64293e-13	0.00333	2.11895e-13	25	72				
CHMP6	79643	broad.mit.edu	37	17	78970862	78970862	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:78970862A>G	uc002jyw.3	+	5	482	c.404A>G	c.(403-405)GAG>GGG	p.E135G		NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	chromatin modifying protein 6	135	Potential.				cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			ovary(1)	1	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGGCCGTGGAGTACCAGCGG	0.632		NaN											0	0	0	0.00245	0	15	41				
HGS	9146	broad.mit.edu	37	17	79668080	79668080	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:79668080C>T	uc002kbg.2	+	21	2219	c.2142C>T	c.(2140-2142)CTC>CTT	p.L714L	MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank	NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	714	Interaction with NF2.|Gln-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AACAGAATCTCATGACCACCC	0.602		NaN											0	0	0	0.001523	0	20	71				
NOTUM	147111	broad.mit.edu	37	17	79916822	79916822	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:79916822G>A	uc010wvg.1	-	4	794	c.522C>T	c.(520-522)AAC>AAT	p.N174N		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	174						extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCATGTTTGCGTTCCACCAGT	0.602		NaN											0	0	0	0.007291	0	24	60				
MYL12A	10627	broad.mit.edu	37	18	3255845	3255845	+	Nonsense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:3255845A>T	uc002klr.2	+	4	840	c.445A>T	c.(445-447)AAA>TAA	p.K149*	MYL12A_uc002kls.2_Nonsense_Mutation_p.K155*	NM_006471	NP_006462	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory,	149	EF-hand 3.					myosin complex	calcium ion binding|protein binding				0						ACCTATTGATAAAAAGGGGAA	0.433		NaN											0	0	0	0.001368	0	13	30				
DLGAP1	9229	broad.mit.edu	37	18	3499238	3499238	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:3499238G>A	uc002kmf.2	-	10	2946	c.2879C>T	c.(2878-2880)ACC>ATC	p.T960I	DLGAP1_uc002kme.1_Missense_Mutation_p.T658I|DLGAP1_uc010dkn.2_Missense_Mutation_p.T668I|DLGAP1_uc010wyw.1_Missense_Mutation_p.T666I|DLGAP1_uc010wyx.1_Missense_Mutation_p.T682I|DLGAP1_uc010wyy.1_Missense_Mutation_p.T644I	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	960					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)				GGCGCTCTCGGTGGCCGAGTT	0.731		NaN											0	0	0	0.001368	0	9	21				
CEP192	55125	broad.mit.edu	37	18	13059227	13059227	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:13059227G>C	uc010xac.1	+	21	4484	c.4404G>C	c.(4402-4404)TCG>TCC	p.S1468S	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.S993S|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Silent_p.S1209S	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1468										ovary(4)|pancreas(1)	5						GGCCATGTTCGACAGATGCTG	0.468		NaN											0	0	0	0.00361	0	47	112				
CEP192	55125	broad.mit.edu	37	18	13069784	13069784	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:13069784C>T	uc010xac.1	+	27	5183	c.5103C>T	c.(5101-5103)CTC>CTT	p.L1701L	CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.L1226L|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Silent_p.L123L|CEP192_uc002krw.2_5'UTR	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN	centrosomal protein 192kDa	1701										ovary(4)|pancreas(1)	5						AGAATCTACTCCTTAAACCTG	0.343		NaN											0	0	0	0.001786	0	30	62				
DSG2	1829	broad.mit.edu	37	18	29102165	29102165	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:29102165A>C	uc002kwu.3	+	6	831	c.643A>C	c.(643-645)AAA>CAA	p.K215Q		NM_001943	NP_001934	Q14126	DSG2_HUMAN	desmoglein 2 preproprotein	215	Extracellular (Potential).|Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTACCTAAATAAAGATACAGG	0.388		NaN											0	0	0	0.00278	0	22	44				
MEP1B	4225	broad.mit.edu	37	18	29775413	29775413	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:29775413C>T	uc002kxj.3	+	5	262	c.215C>T	c.(214-216)CCT>CTT	p.P72L		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	meprin A beta precursor	72	Extracellular (Potential).|Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			ovary(2)	2						TATAGATGGCCTCATACCATT	0.328		NaN											0	0	0	0.008871	0	16	39				
KIAA1632	57724	broad.mit.edu	37	18	43487976	43487976	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:43487976G>A	uc002lbm.2	-	24	4376	c.4276C>T	c.(4276-4278)CTA>TTA	p.L1426L	KIAA1632_uc002lbo.1_Silent_p.L1426L|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Silent_p.L301L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1426					autophagy						0						TGCTTTGGTAGAGAAGGGATA	0.308		NaN											0	0	0	0.00361	0	47	124				
TCEB3C	162699	broad.mit.edu	37	18	44554662	44554662	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:44554662C>T	uc010xdb.1	-	1	1788	c.1552G>A	c.(1552-1554)GAC>AAC	p.D518N	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding				0						CGGGTTTTGTccgcgggcgcc	0.358		NaN											0	0	0	0.008871	0	12	449				
MAPK4	5596	broad.mit.edu	37	18	48190843	48190843	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:48190843C>T	uc002lev.2	+	2	1515	c.515C>T	c.(514-516)GCA>GTA	p.A172V	MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.A172V	NM_002747	NP_002738	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	172	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(2)	6		Colorectal(6;0.0297)		Colorectal(21;0.156)		TTCGGGTTGGCAAGGATCGTT	0.532		NaN											0	0	0	0.00278	0	24	86				
DSEL	92126	broad.mit.edu	37	18	65178545	65178545	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:65178545G>A	uc002lke.1	-	2	4555	c.3331C>T	c.(3331-3333)CAC>TAC	p.H1111Y		NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1101						integral to membrane	isomerase activity|sulfotransferase activity			ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6		Esophageal squamous(42;0.129)				AGCCACAAGTGAGACAAGAGG	0.388		NaN											0	0	0	0.004007	0	16	59				
ZADH2	284273	broad.mit.edu	37	18	72913707	72913707	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:72913707C>T	uc002llx.2	-	2	1066	c.798G>A	c.(796-798)TTG>TTA	p.L266L	ZADH2_uc010dqv.2_Silent_p.L143L	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain	266						peroxisome	oxidoreductase activity|zinc ion binding				0		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CTATTACTATCAAGCGCCCTT	0.507		NaN											0	0	0	0.004656	0	26	71				
C18orf22	79863	broad.mit.edu	37	18	77794534	77794534	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:77794534G>T	uc002lns.2	+	1	177	c.39G>T	c.(37-39)GCG>GCT	p.A13A	TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Silent_p.A13A|C18orf22_uc010dri.1_RNA	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	hypothetical protein LOC79863 precursor	13					rRNA processing	mitochondrion					0		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)		GCTCCCGCGCGGGTCTCCGGG	0.706		NaN											1	0	1.12685e-05	0.004482	1.37805e-05	9	40				
MED16	10025	broad.mit.edu	37	19	872058	872058	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:872058G>T	uc002lqd.1	-	12	2117	c.1966C>A	c.(1966-1968)CGG>AGG	p.R656R	MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Silent_p.R645R|MED16_uc002lqf.2_Silent_p.R645R	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	656	WD 4.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding				0		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;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCAATTCCCGAAGCATGCCC	0.662		NaN											1	0	1.52009e-12	0.003163	1.94123e-12	14	52				
HMHA1	23526	broad.mit.edu	37	19	1073267	1073267	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:1073267G>T	uc002lqz.1	+	3	772	c.541G>T	c.(541-543)GGC>TGC	p.G181C	HMHA1_uc010xgd.1_Missense_Mutation_p.G197C|HMHA1_uc010xge.1_Missense_Mutation_p.G21C|HMHA1_uc002lra.1_Missense_Mutation_p.G21C|HMHA1_uc002lrb.1_Missense_Mutation_p.G64C	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	minor histocompatibility antigen HA-1	181					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			lung(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCGCAGCCGGCACCCTCAT	0.522		NaN											1	0	1.96292e-10	0.001523	2.48637e-10	21	57				
CIRBP	1153	broad.mit.edu	37	19	1270999	1270999	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:1270999G>A	uc002lrr.3	+	2	216	c.67G>A	c.(67-69)GAG>AAG	p.E23K	C19orf23_uc010xgk.1_5'Flank|CIRBP_uc010dsg.1_Nonsense_Mutation_p.W5*|CIRBP_uc002lrt.2_Missense_Mutation_p.E23K|CIRBP_uc010xgl.1_Missense_Mutation_p.E23K|CIRBP_uc002lrv.3_Missense_Mutation_p.E23K|CIRBP_uc002lru.2_RNA	NM_001280	NP_001271	Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	23	RRM.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity				0		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGTCGCTGGAGCAGGTCTT	0.388		NaN											0	0	0	0.00361	0	72	180				
CREB3L3	84699	broad.mit.edu	37	19	4159761	4159761	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:4159761G>A	uc002lzl.2	+	4	674	c.558G>A	c.(556-558)TCG>TCA	p.S186S	CREB3L3_uc002lzm.2_Silent_p.S176S|CREB3L3_uc010xib.1_Silent_p.S177S|CREB3L3_uc010xic.1_Silent_p.S177S	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like	186	Cytoplasmic (Potential).				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCTTTCGGGCAGCAGTG	0.428		NaN											0	0	0	0.002096	0	29	74				
UBXN6	80700	broad.mit.edu	37	19	4453498	4453499	+	Missense_Mutation	DNP	TC	TC	GT			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:4453498_4453499TC>GT	uc002man.1	-	3	364_365	c.268_269GA>AC	c.(268-270)GAA>ACA	p.E90T	UBXN6_uc010dty.1_Missense_Mutation_p.E37T|UBXN6_uc002mam.1_Missense_Mutation_p.E37T	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	90						microtubule organizing center|nucleus	protein binding				0						GACGGTGGCTTCGGCTTGAAGT	0.629		NaN											0	0	0	0.004672	0	12	33				
KIAA1543	57662	broad.mit.edu	37	19	7676817	7676817	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:7676817G>A	uc002mgv.3	+	11	1539	c.1438G>A	c.(1438-1440)GAC>AAC	p.D480N	KIAA1543_uc002mgu.3_Missense_Mutation_p.D507N|KIAA1543_uc002mgw.2_5'Flank	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN	NEZHA isoform 2	480	Pro-rich.				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding			pancreas(1)	1						TGGGGCGGCCGACGGCAGCTT	0.692		NaN											0	0	0	0.007413	0	17	48				
MUC16	94025	broad.mit.edu	37	19	9064866	9064866	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:9064866G>T	uc002mkp.2	-	3	22784	c.22580C>A	c.(22579-22581)TCT>TAT	p.S7527Y		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7529	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						CCTAGTGTTAGATAAGGCAGG	0.483		NaN											1	0	2.65835e-16	0.007291	3.44568e-16	29	66				
OR7G2	390882	broad.mit.edu	37	19	9213259	9213259	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:9213259T>C	uc010xkk.1	-	1	724	c.724A>G	c.(724-726)ATC>GTC	p.I242V		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						CAGGAGGTGATCTGAGTGTAA	0.448		NaN											0	0	0	0.007291	0	30	93				
SMARCA4	6597	broad.mit.edu	37	19	11094925	11094925	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:11094925G>A	uc002mqf.3	+	2	382	c.98G>A	c.(97-99)GGT>GAT	p.G33D	SMARCA4_uc010dxp.2_Missense_Mutation_p.G33D|SMARCA4_uc010dxo.2_Missense_Mutation_p.G33D|SMARCA4_uc002mqg.1_Missense_Mutation_p.G33D|SMARCA4_uc010dxq.2_Missense_Mutation_p.G33D|SMARCA4_uc010dxr.2_Missense_Mutation_p.G33D|SMARCA4_uc002mqj.3_Missense_Mutation_p.G33D|SMARCA4_uc010dxs.2_Missense_Mutation_p.G33D|SMARCA4_uc002mqe.2_Missense_Mutation_p.G33D	NM_003072	NP_003063	P51532	SMCA4_HUMAN	SWI/SNF-related matrix-associated	33	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCTAGCCCGGGTCCCTCGCCG	0.726		NaN	F|N|Mis		NSCLC				Rhabdoid_Predisposition_syndrome				0	0	0	0.006214	0	10	46		Valid		
NANOS3	342977	broad.mit.edu	37	19	13988429	13988429	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:13988429C>T	uc002mxj.3	+	1	480	c.367C>T	c.(367-369)CAC>TAC	p.H123Y		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	nanos homolog 3	104	C2HC 2.|Nanos-type.				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGAGCGCGCCCACACCCGACG	0.652		NaN											0	0	0	0.000978	0	12	22				
AKAP8	10270	broad.mit.edu	37	19	15466028	15466028	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:15466028C>T	uc002nav.2	-	14	1838	c.1777G>A	c.(1777-1779)GGA>AGA	p.G593R	AKAP8_uc010dzy.2_Missense_Mutation_p.G142R	NM_005858	NP_005849	O43823	AKAP8_HUMAN	A-kinase anchor protein 8	593					signal transduction	nuclear matrix				ovary(1)|breast(1)	2						GCGGGCGCTCCTTCCCCATCT	0.617		NaN											0	0	0	0.00874	0	39	92				
MAP1S	55201	broad.mit.edu	37	19	17837423	17837423	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:17837423C>T	uc002nhe.1	+	5	1239	c.1230C>T	c.(1228-1230)GCC>GCT	p.A410A	MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Silent_p.A410A|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Silent_p.A384A	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	410	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1						GCACGCTGGCCTCTGTGTGCG	0.726		NaN											0	0	0	0.000248	0	4	7				
UPF1	5976	broad.mit.edu	37	19	18965703	18965703	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:18965703G>A	uc002nkg.2	+	10	1589	c.1314G>A	c.(1312-1314)TTG>TTA	p.L438L	UPF1_uc002nkf.2_Silent_p.L427L	NM_002911	NP_002902	Q92900	RENT1_HUMAN	regulator of nonsense transcripts 1	438					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2						AGAGCGCATTGAAAACGTTTG	0.587		NaN											0	0	0	0.00499	0	16	37				
ZNF101	94039	broad.mit.edu	37	19	19790184	19790184	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:19790184G>T	uc002nni.1	+	4	496	c.386G>T	c.(385-387)CGA>CTA	p.R129L	ZNF101_uc010ecg.1_Missense_Mutation_p.R9L|ZNF101_uc002nnj.1_Missense_Mutation_p.R9L	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	zinc finger protein 101	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GGACACAAACGATCTGAGTGT	0.522		NaN											1	0	1.5548e-18	0.005443	2.03561e-18	28	62				
ZNF708	7562	broad.mit.edu	37	19	21493399	21493399	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:21493399C>T	uc002npq.1	-	2	232	c.34G>A	c.(34-36)GAA>AAA	p.E12K	ZNF708_uc002npr.1_Intron|ZNF708_uc010ecs.1_Intron	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	12	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6						AGAGAGAATTCTATGGCCACA	0.398		NaN											0	0	0	0.002836	0	33	109				
PDCD5	9141	broad.mit.edu	37	19	33072194	33072194	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:33072194G>A	uc002ntm.2	+	1	91	c.27G>A	c.(25-27)CTG>CTA	p.L9L	PDCD5_uc002ntl.2_Silent_p.L9L|PDCD5_uc010ede.2_RNA	NM_004708	NP_004699	O14737	PDCD5_HUMAN	programmed cell death 5	9					apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			ovary(1)|lung(1)	2	Esophageal squamous(110;0.137)					TTGAGGCGCTGAGGAGACAGA	0.736		NaN											0	0	0	0.004482	0	7	11				
ANKRD27	84079	broad.mit.edu	37	19	33106574	33106574	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:33106574G>A	uc002ntn.1	-	22	2321	c.2165C>T	c.(2164-2166)CCA>CTA	p.P722L		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	722					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)					CTTCTGAGCTGGGGCACACTT	0.438		NaN											0	0	0	0.008361	0	25	89				
UBA2	10054	broad.mit.edu	37	19	34919421	34919421	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:34919421C>T	uc002nvk.2	+	1	154	c.84C>T	c.(82-84)ATC>ATT	p.I28I	UBA2_uc010xrx.1_5'UTR|UBA2_uc002nvl.2_5'Flank	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	SUMO-1 activating enzyme subunit 2	28	ATP.				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGGGCGGCATCGGCTGCGAGC	0.736		NaN											0	0	0	0.00245	0	12	29				
LSR	51599	broad.mit.edu	37	19	35758181	35758181	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:35758181C>T	uc002nyl.2	+	9	1681	c.1458C>T	c.(1456-1458)GCC>GCT	p.A486A	LSR_uc002nym.2_Silent_p.A467A|LSR_uc002nyn.2_Silent_p.A418A|LSR_uc002nyo.2_Silent_p.A466A|LSR_uc010xsr.1_Silent_p.A378A|LSR_uc002nyp.2_Silent_p.A428A|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	486	Cytoplasmic (Potential).				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity				0	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			gctggcgggccaggcggcccc	0.577		NaN											0	0	0	0.004672	0	3	6				
CD22	933	broad.mit.edu	37	19	35823632	35823632	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:35823632G>A	uc010edt.2	+	3	294	c.217G>A	c.(217-219)GGG>AGG	p.G73R	CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Missense_Mutation_p.G73R|CD22_uc010edv.2_Missense_Mutation_p.G73R|CD22_uc002nzb.3_Missense_Mutation_p.G73R	NM_001771	NP_001762	P20273	CD22_HUMAN	CD22 molecule precursor	73	Extracellular (Potential).|Ig-like V-type.				cell adhesion		protein binding|sugar binding			ovary(5)|lung(3)|breast(1)	9	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GAAGTTTGATGGGACAAGACT	0.473		NaN											0	0	0	0.00623	0	39	99				
LGALS4	3960	broad.mit.edu	37	19	39292541	39292541	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:39292541G>C	uc002ojg.2	-	10	1049	c.835C>G	c.(835-837)CGC>GGC	p.R279G		NM_006149	NP_006140	P56470	LEG4_HUMAN	galectin-4	279	Galectin 2.				cell adhesion	cytosol|plasma membrane	sugar binding			ovary(1)|skin(1)	2	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AAGCCACAGCGAATGGACAGC	0.562		NaN											0	0	0	0.00361	0	47	113				
EID2	163126	broad.mit.edu	37	19	40030040	40030040	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:40030040A>C	uc002oma.2	-	1	799	c.680T>G	c.(679-681)CTT>CGT	p.L227R		NM_153232	NP_694964	Q8N6I1	EID2_HUMAN	CREBBP/EP300 inhibitor 2	227					cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding				0	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			ATCGCAACCAAGTTCTTCTAT	0.413		NaN											0	0	0	0.004656	0	25	80				
PRX	57716	broad.mit.edu	37	19	40901699	40901699	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:40901699G>A	uc002onr.2	-	7	2829	c.2560C>T	c.(2560-2562)CTG>TTG	p.L854L	PRX_uc002onq.2_Silent_p.L715L|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	854					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGAAGGCAGAGTGAGAGAG	0.632		NaN											0	0	0	0.004656	0	26	90				
CIC	23152	broad.mit.edu	37	19	42797418	42797418	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:42797418G>A	uc002otf.1	+	15	3820	c.3780G>A	c.(3778-3780)AAG>AAA	p.K1260K		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	1260	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				CCAGCGCCAAGGGCCCTGAGA	0.667		NaN	T	DUX4	soft tissue sarcoma								0	0	0	0.004672	0	3	9				
ZNF225	7768	broad.mit.edu	37	19	44635316	44635316	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:44635316G>C	uc002oyj.1	+	5	792	c.549G>C	c.(547-549)AAG>AAC	p.K183N	ZNF225_uc010eje.1_Missense_Mutation_p.K100N|ZNF225_uc010ejf.1_Missense_Mutation_p.K183N	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN	zinc finger protein 225	183	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)|all_neural(266;0.202)				AATGTGGAAAGAGTTTCTGTT	0.403		NaN											0	0	0	0.00278	0	25	91				
ZNF180	7733	broad.mit.edu	37	19	44980836	44980836	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:44980836G>C	uc002ozf.3	-	5	2144	c.1862C>G	c.(1861-1863)ACT>AGT	p.T621S	ZNF180_uc002ozh.3_Missense_Mutation_p.T278S|ZNF180_uc002ozi.3_Missense_Mutation_p.T594S|ZNF180_uc002ozg.3_Missense_Mutation_p.T620S|ZNF180_uc010ejm.2_Missense_Mutation_p.T596S	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	621	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Prostate(69;0.0435)				CTGATGTTGAGTAAGGCATGA	0.398		NaN											0	0	0	0.006999	0	43	89				
ERCC2	2068	broad.mit.edu	37	19	45871992	45871992	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:45871992C>G	uc002pbj.2	-	5	303	c.256G>C	c.(256-258)GAG>CAG	p.E86Q	ERCC2_uc010ejz.2_Missense_Mutation_p.E86Q|ERCC2_uc002pbk.2_Missense_Mutation_p.E62Q|ERCC2_uc002pbl.3_Missense_Mutation_p.E62Q|ERCC2_uc010xxj.1_RNA	NM_000400	NP_000391	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent	86	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|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|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			lung(2)|pancreas(1)	3		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TTTCGAAGCTCTTCAATCACC	0.562		NaN	Mis|N|F|S			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum				0	0	0	0.001984	0	7	26		Valid		
IGFL4	444882	broad.mit.edu	37	19	46543538	46543538	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:46543538C>A	uc002pdy.1	-	3	261	c.207G>T	c.(205-207)TGG>TGT	p.W69C		NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4 precursor	69						extracellular region					0		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GGAAGCAGGGCCAGAAGGTGC	0.592		NaN											1	0	3.7963e-18	0.00333	4.96195e-18	26	57				
HIF3A	64344	broad.mit.edu	37	19	46825102	46825102	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:46825102A>C	uc002peh.2	+	10	1243	c.1214A>C	c.(1213-1215)GAC>GCC	p.D405A	HIF3A_uc002peg.3_Missense_Mutation_p.D405A|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.D349A|HIF3A_uc002pej.1_Missense_Mutation_p.D336A|HIF3A_uc002pek.2_Missense_Mutation_p.D349A|HIF3A_uc010xxy.1_Missense_Mutation_p.D336A|HIF3A_uc002pel.2_Missense_Mutation_p.D403A|HIF3A_uc010xxz.1_Missense_Mutation_p.D354A	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTGGCCGCTGACCCCCGCCGT	0.692		NaN											0	0	0	0.003271	0	10	131				
GRLF1	2909	broad.mit.edu	37	19	47422461	47422461	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:47422461C>G	uc010ekv.2	+	1	529	c.529C>G	c.(529-531)CAG>GAG	p.Q177E		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	glucocorticoid receptor DNA binding factor 1	177					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity			central_nervous_system(1)	1		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)		CTTTGATGACCAGCTCAAGTT	0.443		NaN											0	0	0	0.002836	0	29	100				
DHX34	9704	broad.mit.edu	37	19	47865850	47865850	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:47865850G>C	uc010xyn.1	+	6	1834	c.1493G>C	c.(1492-1494)GGA>GCA	p.G498A	DHX34_uc010elc.1_Missense_Mutation_p.G413A	NM_014681	NP_055496	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	498	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			ovary(4)|upper_aerodigestive_tract(1)	5		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ACGGGCCCCGGAGTCTGCTTC	0.657		NaN											0	0	0	0.001855	0	12	27				
PPFIA3	8541	broad.mit.edu	37	19	49652416	49652416	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:49652416G>A	uc002pmr.2	+	26	3608	c.3276G>A	c.(3274-3276)CAG>CAA	p.Q1092Q	PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Silent_p.Q951Q|PPFIA3_uc002pmt.2_Silent_p.Q231Q|PPFIA3_uc002pmu.1_Silent_p.Q141Q	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	1092	SAM 3.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCCCCACGCAGAATGCACAGG	0.677		NaN											0	0	0	0.006122	0	16	38				
RCN3	57333	broad.mit.edu	37	19	50031853	50031853	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:50031853G>A	uc002poj.2	+	2	571	c.124G>A	c.(124-126)GAC>AAC	p.D42N		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	42						endoplasmic reticulum lumen	calcium ion binding|protein binding			ovary(1)	1		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CCCCCTGAGCGACGCTCCCCA	0.652		NaN											0	0	0	0.00874	0	41	111				
PNKP	11284	broad.mit.edu	37	19	50365522	50365522	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:50365522G>A	uc002pqh.2	-	11	1098	c.1046C>T	c.(1045-1047)TCA>TTA	p.S349L	PNKP_uc002pqg.2_Missense_Mutation_p.S130L|PNKP_uc002pqi.2_Missense_Mutation_p.S310L|PNKP_uc002pqj.2_Missense_Mutation_p.S349L|PNKP_uc010enm.2_Missense_Mutation_p.S318L|PNKP_uc002pqk.2_Missense_Mutation_p.S349L	NM_007254	NP_009185	Q96T60	PNKP_HUMAN	polynucleotide kinase 3' phosphatase	349					DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding			ovary(1)|kidney(1)	2		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GAGAGGCCCTGAGCGGGAGAC	0.607		NaN						Other_BER_factors					0	0	0	0.00308	0	7	19				
SHANK1	50944	broad.mit.edu	37	19	51169762	51169762	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:51169762C>G	uc002psx.1	-	22	5474	c.5455G>C	c.(5455-5457)GAG>CAG	p.E1819Q	SHANK1_uc002psw.1_Missense_Mutation_p.E1203Q	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1819					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			large_intestine(2)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACTTCTGGCTCTACAGCCACC	0.726		NaN											0	0	0	0.001984	0	7	14				
LENG9	94059	broad.mit.edu	37	19	54974069	54974069	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:54974069G>A	uc010yez.1	-	1	826	c.707C>T	c.(706-708)GCC>GTC	p.A236V		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	236					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCTCTCCTGGGCCGCCTCCAG	0.682		NaN											0	0	0	0.001786	0	30	52				
EPS8L1	54869	broad.mit.edu	37	19	55593171	55593171	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:55593171G>C	uc002qis.3	+	9	909	c.805G>C	c.(805-807)GAG>CAG	p.E269Q	EPS8L1_uc010ess.1_Missense_Mutation_p.E251Q|EPS8L1_uc010est.1_Missense_Mutation_p.E269Q|EPS8L1_uc010yfr.1_Missense_Mutation_p.E205Q|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.E142Q|EPS8L1_uc002qiv.2_5'UTR|EPS8L1_uc002qiw.2_5'Flank	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	epidermal growth factor receptor pathway	269						cytoplasm					0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGACGACGTAGAGAGCTTTGT	0.667		NaN											0	0	0	0.008871	0	19	48				
NLRP4	147945	broad.mit.edu	37	19	56388434	56388434	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:56388434G>A	uc002qmd.3	+	8	3020	c.2598G>A	c.(2596-2598)CTG>CTA	p.L866L	NLRP4_uc002qmf.2_Silent_p.L791L|NLRP4_uc010etf.2_Silent_p.L641L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	866	LRR 6.						ATP binding			ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATCAAAACCTGAAGATTCTGC	0.478		NaN											0	0	0	0.00361	0	58	172				
ZNF583	147949	broad.mit.edu	37	19	56935524	56935524	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:56935524A>T	uc010ygl.1	+	5	1662	c.1497A>T	c.(1495-1497)AAA>AAT	p.K499N	ZNF583_uc002qnc.2_Missense_Mutation_p.K499N|ZNF583_uc010ygm.1_Missense_Mutation_p.K499N	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN	zinc finger protein 583	499	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TTTGTGGGAAAGCATTTAGCT	0.393		NaN											0	0	0	0.006999	0	41	95				
ZNF264	9422	broad.mit.edu	37	19	57716855	57716855	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:57716855G>A	uc002qob.2	+	3	664	c.251G>A	c.(250-252)TGT>TAT	p.C84Y		NM_003417	NP_003408	O43296	ZN264_HUMAN	zinc finger protein 264	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAAGACACCTGTCCAGGTAGG	0.552		NaN											0	0	0	0.00308	0	7	27				
ZNF512	84450	broad.mit.edu	37	2	27821012	27821012	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:27821012G>A	uc002rla.2	+	3	255	c.168G>A	c.(166-168)TCG>TCA	p.S56S	ZNF512_uc010ylv.1_5'UTR|ZNF512_uc010ylw.1_Silent_p.S55S|ZNF512_uc002rlb.2_5'UTR|ZNF512_uc010ylx.1_5'UTR|ZNF512_uc002rlc.2_5'UTR|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_5'UTR	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN	zinc finger protein 512	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)					GTGGTTCATCGTCTGCATCTT	0.408		NaN											0	0	0	0.003755	0	32	101				
PLB1	151056	broad.mit.edu	37	2	28824168	28824168	+	Missense_Mutation	SNP	G	G	T	rs146498076	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:28824168G>T	uc002rmb.1	+	37	2576	c.2576G>T	c.(2575-2577)GGC>GTC	p.G859V	PLB1_uc010ezj.1_Missense_Mutation_p.G848V|PLB1_uc002rme.1_5'Flank	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	phospholipase B1 precursor	859	4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			ovary(4)|large_intestine(2)|skin(2)|breast(1)	9	Acute lymphoblastic leukemia(172;0.155)					CTGATCGGAGGCAGCGATTTA	0.453		NaN											1	0	6.21321e-17	0.00278	8.08029e-17	21	24				
BIRC6	57448	broad.mit.edu	37	2	32626450	32626450	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:32626450G>A	uc010ezu.2	+	7	1388	c.1254G>A	c.(1252-1254)ATG>ATA	p.M418I		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	418					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCAAACTTATGAAGGTATGTT	0.358		NaN											0	0	0	0.00361	0	148	133				
BIRC6	57448	broad.mit.edu	37	2	32738069	32738069	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:32738069G>T	uc010ezu.2	+	54	10550	c.10416G>T	c.(10414-10416)ATG>ATT	p.M3472I		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	3472					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GTGGCAGGATGAACTACATGT	0.418		NaN											1	0	1.11015e-26	0.00361	1.49105e-26	54	45				
BIRC6	57448	broad.mit.edu	37	2	32832589	32832589	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:32832589G>T	uc010ezu.2	+	72	14272	c.14138G>T	c.(14137-14139)CGG>CTG	p.R4713L		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat-containing 6	4713					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14	Acute lymphoblastic leukemia(172;0.155)					GGATATGAACGGTCTAGAGGC	0.423		NaN											1	0	6.93263e-47	0.00361	9.44146e-47	118	90				
PLEKHH2	130271	broad.mit.edu	37	2	43989514	43989514	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:43989514A>C	uc010yny.1	+	28	4226	c.4143A>C	c.(4141-4143)TTA>TTC	p.L1381F		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H	1381	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			skin(2)|central_nervous_system(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAAGCCTCTTAGAATACAACT	0.368		NaN											0	0	0	0.00361	0	58	38				
XPO1	7514	broad.mit.edu	37	2	61724137	61724137	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:61724137C>T	uc002sbj.2	-	10	1493	c.765G>A	c.(763-765)CTG>CTA	p.L255L	XPO1_uc010fcl.2_Silent_p.L251L|XPO1_uc010ypn.1_Silent_p.L251L|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_5'Flank	NM_003400	NP_003391	O14980	XPO1_HUMAN	exportin 1	255	Necessary for HTLV-1 Rex-mediated mRNA export.|HEAT 2.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	p.L255L(1)		ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTGGAACATTCAGGAACTATT	0.348		NaN											0	0	0	0.00361	0	47	24				
POLR1A	25885	broad.mit.edu	37	2	86325857	86325857	+	Silent	SNP	A	A	C	rs36023304		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:86325857A>C	uc002sqs.2	-	3	688	c.309T>G	c.(307-309)TCT>TCG	p.S103S	POLR1A_uc002sqv.2_Silent_p.S103S	NM_015425	NP_056240	O95602	RPA1_HUMAN	DNA-directed RNA polymerase I A	103					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3						AGTTTAAACAAGAGCCCCGAA	0.498		NaN											0	0	0	0.00361	0	80	47				
CNNM3	26505	broad.mit.edu	37	2	97483118	97483118	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:97483118G>A	uc002swy.2	+	1	1128	c.1104G>A	c.(1102-1104)TTG>TTA	p.L368L	CNNM3_uc002swz.2_Silent_p.L368L	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	368	CBS 1.				ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1						TCAAGGACTTGGCCTTCGTGG	0.602		NaN											0	0	0	0.00361	0	61	51				
IL1F10	84639	broad.mit.edu	37	2	113832888	113832888	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:113832888A>G	uc002tiu.2	+	5	481	c.406A>G	c.(406-408)AAG>GAG	p.K136E	IL1F10_uc002tiv.2_Missense_Mutation_p.K136E|IL1F10_uc002tiw.2_Missense_Mutation_p.K128E	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10	136						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			ovary(1)	1						ACAGCTCACCAAGGAGAGTGA	0.597		NaN											0	0	0	0.00361	0	93	68				
PTPN18	26469	broad.mit.edu	37	2	131127379	131127379	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:131127379C>T	uc002trc.2	+	7	626	c.525C>T	c.(523-525)ACC>ACT	p.T175T	PTPN18_uc002trd.2_Intron|PTPN18_uc002trb.2_Silent_p.T68T|PTPN18_uc002tre.2_5'Flank	NM_014369	NP_055184	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type	175	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			ovary(3)|kidney(1)	4	Colorectal(110;0.1)					TGCTCAGGACCCTCAAGGTCA	0.443		NaN											0	0	0	0.003755	0	33	27				
STAM2	10254	broad.mit.edu	37	2	152980445	152980445	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:152980445T>C	uc002tyc.3	-	13	1534	c.1184A>G	c.(1183-1185)TAT>TGT	p.Y395C		NM_005843	NP_005834	O75886	STAM2_HUMAN	signal transducing adaptor molecule 2	395					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.22)		TTGAACTGGATATGTCTATTA	0.358		NaN											0	0	0	0.00361	0	51	39				
KCNJ3	3760	broad.mit.edu	37	2	155555300	155555300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:155555300C>T	uc002tyv.1	+	1	208	c.13C>T	c.(13-15)CGA>TGA	p.R5*	KCNJ3_uc010zce.1_Nonsense_Mutation_p.R5*	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	5	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)	GTCTGCACTCCGAAGGAAATT	0.602		NaN											0	0	0	0.00361	0	48	50				
BAZ2B	29994	broad.mit.edu	37	2	160245986	160245986	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:160245986C>A	uc002uao.2	-	21	3438	c.3086G>T	c.(3085-3087)CGG>CTG	p.R1029L	BAZ2B_uc002uap.2_Missense_Mutation_p.R993L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1029	Lys-rich.|Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4						TTGTTTCAACCGCTCTTTTTC	0.294		NaN											1	0	0.00010058	0.001368	0.000122425	12	37				
PDE11A	50940	broad.mit.edu	37	2	178936328	178936328	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:178936328C>A	uc002ulq.2	-	1	1155	c.837G>T	c.(835-837)CAG>CAT	p.Q279H	PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	279	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CCCAGGGGACCTGCACCTCAT	0.522		NaN							Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				1	0	3.07327e-39	0.00361	4.16361e-39	91	81				
TTN	7273	broad.mit.edu	37	2	179422610	179422610	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:179422610G>T	uc010zfg.1	-	277	79991	c.79767C>A	c.(79765-79767)CTC>CTA	p.L26589L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L20284L|TTN_uc010zfi.1_Silent_p.L20217L|TTN_uc010zfj.1_Silent_p.L20092L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27516							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)			GCTCCCATTTGAGAGTCACAC	0.428		NaN											1	0	7.99423e-63	0.00361	1.09446e-62	130	298				
RAPH1	65059	broad.mit.edu	37	2	204360028	204360028	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:204360028T>G	uc002vad.2	-	2	274	c.49A>C	c.(49-51)AGT>CGT	p.S17R	RAPH1_uc002vae.2_Missense_Mutation_p.S17R|RAPH1_uc002vaf.2_Missense_Mutation_p.S17R	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	17					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						TCCTTGTCACTGTCTTCTTCA	0.413		NaN											0	0	0	0.00361	0	73	64				
GPR1	2825	broad.mit.edu	37	2	207041473	207041473	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:207041473G>C	uc002vbl.3	-	3	885	c.499C>G	c.(499-501)CTA>GTA	p.L167V	GPR1_uc010fue.2_Missense_Mutation_p.L167V|GPR1_uc010fuf.2_Missense_Mutation_p.L167V	NM_005279	NP_005270	P46091	GPR1_HUMAN	G protein-coupled receptor 1	167	Helical; Name=4; (Potential).					integral to plasma membrane	G-protein coupled receptor activity				0		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CCGCCAATTAGAGAAGCCAAA	0.433		NaN											0	0	0	0.002096	0	33	35				
PRLH	51052	broad.mit.edu	37	2	238475309	238475309	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:238475309G>A	uc010znl.1	+	1	93	c.93G>A	c.(91-93)GAG>GAA	p.E31E		NM_015893	NP_056977	P81277	PRRP_HUMAN	prolactin releasing hormone precursor	31						extracellular region					0		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		ACTCCATGGAGATCCGCAGTG	0.652		NaN											0	0	0	0.004672	0	3	3				
ZCCHC3	85364	broad.mit.edu	37	20	279103	279103	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:279103G>T	uc002wdf.2	+	2	897	c.873G>T	c.(871-873)GGG>GGT	p.G291G	ZCCHC3_uc002wdg.2_RNA	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	292							nucleic acid binding|zinc ion binding				0		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			ACAGGTTTGGGATCTGGACCG	0.647		NaN											1	0	2.48696e-23	0.003271	3.31169e-23	34	106				
TBC1D20	128637	broad.mit.edu	37	20	419827	419827	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:419827C>T	uc002wds.2	-	7	1019	c.881G>A	c.(880-882)AGA>AAA	p.R294K	TBC1D20_uc002wdv.2_Missense_Mutation_p.R117K|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	294					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)	1		all_epithelial(17;0.228)|Breast(17;0.231)				GTCTCCTGCTCTGCTGATCAG	0.582		NaN											0	0	0	0.000978	0	12	43				
SNPH	9751	broad.mit.edu	37	20	1286301	1286301	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:1286301C>G	uc002wes.2	+	6	1324	c.1088C>G	c.(1087-1089)TCA>TGA	p.S363*	SNPH_uc002wet.2_Nonsense_Mutation_p.S407*	NM_014723	NP_055538	O15079	SNPH_HUMAN	syntaphilin	363					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			ovary(2)	2						GACCCCAACTCAGCAGTGGTG	0.657		NaN											0	0	0	0.007413	0	20	71				
TGM6	343641	broad.mit.edu	37	20	2413168	2413168	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:2413168C>A	uc002wfy.1	+	13	2061	c.2000C>A	c.(1999-2001)TCA>TAA	p.S667*	TGM6_uc010gal.1_Silent_p.L622L	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	667					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)|skin(1)	4					L-Glutamine(DB00130)	GAGAGGGCCTCAGTCCAGTTT	0.587		NaN											1	0	1.36615e-20	0.002836	1.80378e-20	34	95				
OXT	5020	broad.mit.edu	37	20	3052881	3052881	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:3052881G>A	uc002wht.1	+	2	315	c.279G>A	c.(277-279)GGG>GGA	p.G93G		NM_000915	NP_000906	P01178	NEU1_HUMAN	oxytocin-neurophysin I preproprotein	93					signal transduction		neurohypophyseal hormone activity				0					Oxytocin(DB00107)	AGGCGTGCGGGAGCGGGGGCC	0.766		NaN											0	0	0	0.001855	0	13	28				
CENPB	1059	broad.mit.edu	37	20	3766484	3766484	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:3766484C>T	uc002wjk.2	-	1	854	c.647G>A	c.(646-648)GGA>GAA	p.G216E	CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	NM_001810	NP_001801	P07199	CENPB_HUMAN	centromere protein B	216					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding				0						ACGCGGCCGTCCGTCGCCTCC	0.706		NaN											0	0	0	0.003755	0	32	116				
JAG1	182	broad.mit.edu	37	20	10639244	10639244	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:10639244T>A	uc002wnw.2	-	4	1082	c.566A>T	c.(565-567)GAC>GTC	p.D189V		NM_000214	NP_000205	P78504	JAG1_HUMAN	jagged 1 precursor	189	Extracellular (Potential).|DSL.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						ATAGTAGTAGTCATCACAGGT	0.527		NaN							Alagille_Syndrome				0	0	0	0.005524	0	37	95				
C20orf160	140706	broad.mit.edu	37	20	30602794	30602794	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:30602794C>T	uc002wxf.2	+	2	131	c.118C>T	c.(118-120)CAC>TAC	p.H40Y		NM_080625	NP_542192	Q9NUG4	CT160_HUMAN	hypothetical protein LOC140706	40										central_nervous_system(3)|ovary(1)	4						CCGGCCCCTGCACTCGATGCC	0.637		NaN											0	0	0	0.00361	0	58	133				
SLC2A10	81031	broad.mit.edu	37	20	45355551	45355551	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:45355551G>A	uc002xsl.2	+	3	1434	c.1337G>A	c.(1336-1338)AGA>AAA	p.R446K		NM_030777	NP_110404	O95528	GTR10_HUMAN	solute carrier family 2 member 10	446	Helical; Name=11; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)				ATACGAGGAAGAGCCTTCGCC	0.562		NaN											0	0	0	0.003214	0	48	137				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:46279860G>A	uc002xtk.2	+	20	3991	c.3786G>A	c.(3784-3786)CAG>CAA	p.Q1262Q	NCOA3_uc010ght.1_Silent_p.Q1253Q|NCOA3_uc002xtl.2_Silent_p.Q1258Q|NCOA3_uc002xtm.2_Silent_p.Q1257Q|NCOA3_uc002xtn.2_Silent_p.Q1261Q|NCOA3_uc010zyc.1_Silent_p.Q1057Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3 isoform a	1262	Poly-Gln.|Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			ovary(3)|lung(1)|skin(1)	5						agcagcagcagcagcaacagc	0.308		NaN											0	0	0	0.001168	0	5	70				
GNAS	2778	broad.mit.edu	37	20	57485061	57485061	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:57485061G>A	uc002xzw.2	+	11	3109	c.2824G>A	c.(2824-2826)GAG>AAG	p.E942K	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.E240K|GNAS_uc002xzx.2_Missense_Mutation_p.E240K|GNAS_uc010gjr.2_Missense_Mutation_p.E190K|GNAS_uc002xzy.2_Missense_Mutation_p.E225K|GNAS_uc002yaa.2_Missense_Mutation_p.E285K|GNAS_uc010zzt.1_Missense_Mutation_p.E300K|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.E190K|GNAS_uc002yae.2_Missense_Mutation_p.E224K	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	299					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCTGCTCGCTGAGAAAGTCCT	0.507		NaN	Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			0	0	0	0.00361	0	67	162				
GMEB2	26205	broad.mit.edu	37	20	62229137	62229137	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:62229137G>A	uc002yfp.1	-	4	913	c.434C>T	c.(433-435)GCC>GTC	p.A145V	GMEB2_uc002yfo.1_Missense_Mutation_p.A67V|GMEB2_uc002yfq.1_Missense_Mutation_p.A145V	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	145	SAND.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding				0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CATGCGGATGGCTCTCTTCCA	0.597		NaN											0	0	0	0.005443	0	24	48				
CLDN17	26285	broad.mit.edu	37	21	31538933	31538933	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:31538933C>T	uc011acv.1	-	1	3	c.3G>A	c.(1-3)ATG>ATA	p.M1I		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	1	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			ovary(2)	2						GATAAAATGCCATTGCCTTTA	0.468		NaN											0	0	0	0.00245	0	15	59				
GCFC1	94104	broad.mit.edu	37	21	34131446	34131446	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:34131446A>C	uc002yqn.2	-	7	1518	c.1328T>G	c.(1327-1329)TTT>TGT	p.F443C	GCFC1_uc002yqm.2_5'Flank|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.F443C	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN	GC-rich sequence DNA-binding factor candidate	443						cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2						TTCTTGCAAAAATTTATACCG	0.408		NaN											0	0	0	0.00361	0	64	156				
BRWD1	54014	broad.mit.edu	37	21	40574387	40574387	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:40574387C>T	uc002yxk.1	-	38	4588	c.4449G>A	c.(4447-4449)AGG>AGA	p.R1483R	BRWD1_uc010goc.1_Silent_p.R126R|BRWD1_uc002yxl.2_Silent_p.R1483R|BRWD1_uc010god.1_Silent_p.R401R	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GATAAGCTGTCCTACTTGAGG	0.428		NaN											0	0	0	0.003954	0	25	50				
MX2	4600	broad.mit.edu	37	21	42780076	42780076	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:42780076G>A	uc002yzf.1	+	14	2168	c.2064G>A	c.(2062-2064)AAG>AAA	p.K688K	MX2_uc002yzg.1_Silent_p.K411K|MX2_uc010gop.1_Silent_p.K170K	NM_002463	NP_002454	P20592	MX2_HUMAN	myxovirus resistance protein 2	688	GED.				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CCGCTACCAAGAGAAGAATCC	0.502		NaN											0	0	0	0.00361	0	54	65				
PCNT	5116	broad.mit.edu	37	21	47769713	47769713	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:47769713C>T	uc002zji.3	+	8	1430	c.1323C>T	c.(1321-1323)AGC>AGT	p.S441S	PCNT_uc002zjj.2_Silent_p.S323S|PCNT_uc010gqk.1_RNA	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	441	Glu-rich.|Potential.				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)					TCAAAGAGAGCGAGAAAGAAA	0.433		NaN											0	0	0	0.007835	0	41	66				
CCT8L2	150160	broad.mit.edu	37	22	17072837	17072837	+	Missense_Mutation	SNP	G	G	T	rs142343817		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:17072837G>T	uc002zlp.1	-	1	864	c.604C>A	c.(604-606)CGT>AGT	p.R202S		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	202					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACCCCAACACGCTCAGGCTTG	0.612		NaN											1	0	7.68411e-24	0.008361	1.02499e-23	29	122				
BCL2L13	23786	broad.mit.edu	37	22	18185037	18185037	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:18185037A>C	uc002zmw.2	+	6	703	c.485A>C	c.(484-486)CAA>CCA	p.Q162P	BCL2L13_uc002zmu.2_Missense_Mutation_p.Q162P|BCL2L13_uc002zmv.2_Missense_Mutation_p.Q162P|BCL2L13_uc002zmx.2_5'UTR|BCL2L13_uc002zmy.2_Intron|BCL2L13_uc010gqy.2_5'UTR|BCL2L13_uc011agk.1_Missense_Mutation_p.Q38P|BCL2L13_uc010gqz.2_Intron|BCL2L13_uc002zmz.2_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	162					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4		all_epithelial(15;0.123)		Lung(27;0.199)		TTGCTACGACAAATGCTTTTG	0.398		NaN											0	0	0	0.002222	0	38	162				
TRMT2A	27037	broad.mit.edu	37	22	20103676	20103676	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:20103676C>T	uc002zrk.1	-	3	699	c.484G>A	c.(484-486)GAG>AAG	p.E162K	TRMT2A_uc002zrl.1_Missense_Mutation_p.E162K|TRMT2A_uc002zrm.1_5'UTR|TRMT2A_uc002zrn.1_Missense_Mutation_p.E162K|TRMT2A_uc011ahk.1_Missense_Mutation_p.E162K|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN	HpaII tiny fragments locus 9C	162					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(1)	1						ACTGGTGGCTCACTCTCACCC	0.647		NaN											0	0	0	0.002522	0	46	51				
ZNRF3	84133	broad.mit.edu	37	22	29445244	29445244	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:29445244C>G	uc003aeg.2	+	8	940	c.775C>G	c.(775-777)CAG>GAG	p.Q259E	ZNRF3_uc003aeh.1_Missense_Mutation_p.Q259E	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	359	Cytoplasmic (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						ACGTGGTCGGCAGCAGAGGGT	0.612		NaN											0	0	0	0.004878	0	38	124				
SLC35E4	339665	broad.mit.edu	37	22	31042720	31042720	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:31042720C>G	uc003ais.1	+	2	1400	c.755C>G	c.(754-756)TCT>TGT	p.S252C	SLC35E4_uc003ait.2_Intron	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	252	Leu-rich.					integral to membrane					0						GCTGGCGACTCTCGCCTCTGG	0.667		NaN											0	0	0	0.001368	0	12	47				
PLA2G6	8398	broad.mit.edu	37	22	38536057	38536057	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:38536057A>T	uc003auy.1	-	5	865	c.729T>A	c.(727-729)AAT>AAA	p.N243K	PLA2G6_uc003auz.1_Missense_Mutation_p.N243K|PLA2G6_uc003ava.1_Missense_Mutation_p.N243K|PLA2G6_uc003avb.2_Missense_Mutation_p.N243K|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Intron	NM_003560	NP_003551	O60733	PA2G6_HUMAN	phospholipase A2, group VI isoform a	243	ANK 3.				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				ovary(1)	1	Melanoma(58;0.045)				Quinacrine(DB01103)	TGCACCGAGCATTGCACAGCA	0.627		NaN											0	0	0	0.000978	0	11	46				
TTLL12	23170	broad.mit.edu	37	22	43570554	43570554	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:43570554C>T	uc003bdq.2	-	7	1017	c.985G>A	c.(985-987)GAG>AAG	p.E329K	TTLL12_uc003bdr.1_Missense_Mutation_p.E329K	NM_015140	NP_055955	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	329	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)	1		Ovarian(80;0.221)|Glioma(61;0.222)				GCGTCCGCCTCACTCTGGGTG	0.657		NaN											0	0	0	0.003271	0	32	105				
CHL1	10752	broad.mit.edu	37	3	367669	367669	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:367669A>T	uc003bou.2	+	4	390	c.119A>T	c.(118-120)CAG>CTG	p.Q40L	CHL1_uc003bot.2_Missense_Mutation_p.Q40L|CHL1_uc003bow.1_Missense_Mutation_p.Q40L|CHL1_uc011asi.1_Missense_Mutation_p.Q40L	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	40	Ig-like C2-type 1.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATCATAAAACAGTCAAAAGTC	0.338		NaN											0	0	0	0.000978	0	12	39				
LRRN1	57633	broad.mit.edu	37	3	3886380	3886380	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:3886380A>T	uc003bpt.3	+	2	816	c.55A>T	c.(55-57)ATG>TTG	p.M19L	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	19						integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GGGCCTACTAATGACTTCATT	0.458		NaN											0	0	0	0.008361	0	31	63				
LRRN1	57633	broad.mit.edu	37	3	3886395	3886395	+	Missense_Mutation	SNP	G	G	A	rs140162397		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:3886395G>A	uc003bpt.3	+	2	831	c.70G>A	c.(70-72)GAG>AAG	p.E24K	SUMF1_uc003bps.1_Intron	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1 precursor	24						integral to membrane				central_nervous_system(1)	1				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTCATTAACCGAGTCTTCCAT	0.473		NaN											0	0	0	0.004289	0	37	69				
NR1D2	9975	broad.mit.edu	37	3	24018855	24018855	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:24018855G>T	uc003ccs.2	+	8	2004	c.1685G>T	c.(1684-1686)CGA>CTA	p.R562L	NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.R487L	NM_005126	NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	562					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			urinary_tract(1)|kidney(1)|skin(1)	3						CCAGATCTTCGATCTTTAAAC	0.373		NaN											1	0	9.55421e-19	0.00361	1.25722e-18	47	108				
SCN11A	11280	broad.mit.edu	37	3	38962614	38962614	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:38962614T>G	uc011ays.1	-	6	1044	c.845A>C	c.(844-846)AAA>ACA	p.K282T		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha	282	I.				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CGAGATGCATTTCAGGTTCAG	0.443		NaN											0	0	0	0.00361	0	107	174				
COL7A1	1294	broad.mit.edu	37	3	48618755	48618755	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:48618755C>T	uc003ctz.2	-	51	4838	c.4837G>A	c.(4837-4839)GGA>AGA	p.G1613R	MIR711_hsa-mir-711|MI0012488_5'Flank	NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1613	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCTTCTCTCCAGGAGGCCCT	0.652		NaN											0	0	0	0.00499	0	16	31				
SPATA12	353324	broad.mit.edu	37	3	57107939	57107939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:57107939C>T	uc003dij.1	+	2	892	c.217C>T	c.(217-219)CAG>TAG	p.Q73*	ARHGEF3_uc003dih.2_Intron	NM_181727	NP_859078	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	73											0				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		GCTGACATTTCAGGGGGATGT	0.532		NaN											0	0	0	0.001786	0	32	43				
ABHD6	57406	broad.mit.edu	37	3	58255096	58255096	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:58255096G>A	uc003djs.3	+	4	735	c.325G>A	c.(325-327)GAG>AAG	p.E109K	ABHD6_uc003djr.2_Missense_Mutation_p.E109K|ABHD6_uc003djt.3_Missense_Mutation_p.E109K	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	109	Cytoplasmic (Potential).					integral to membrane	acylglycerol lipase activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		GCCAGGACATGAGGGCACCAC	0.532		NaN											0	0	0	0.007413	0	13	31				
C3orf67	200844	broad.mit.edu	37	3	58856020	58856020	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:58856020C>T	uc003dkt.1	-	8	765	c.356G>A	c.(355-357)AGA>AAA	p.R119K	C3orf67_uc003dks.1_5'Flank|uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.2_Missense_Mutation_p.R27K	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	hypothetical protein LOC200844	119											0		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ACTTGTTCCTCTGTTAATGAA	0.378		NaN											0	0	0	0.008871	0	20	25				
OR5AC2	81050	broad.mit.edu	37	3	97806060	97806060	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:97806060T>G	uc011bgs.1	+	1	44	c.44T>G	c.(43-45)GTT>GGT	p.V15G		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	15	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						ACAGAGTTTGTTCTCACAGGA	0.403		NaN											0	0	0	0.00361	0	62	149				
TOMM70A	9868	broad.mit.edu	37	3	100103344	100103344	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:100103344C>T	uc003dtw.2	-	4	1146	c.714G>A	c.(712-714)GAG>GAA	p.E238E		NM_014820	NP_055635	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70	238	Cytoplasmic (Potential).				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			ovary(1)	1						CTTTGGCTTTCTCTTTTCCAA	0.363		NaN											0	0	0	0.003271	0	33	86				
IMPG2	50939	broad.mit.edu	37	3	100961559	100961559	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:100961559C>T	uc003duq.1	-	14	3198	c.2995G>A	c.(2995-2997)GAT>AAT	p.D999N	IMPG2_uc011bhe.1_Missense_Mutation_p.D862N	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	999	Extracellular (Potential).|SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						GAGTATTTATCAATAGCCAAG	0.398		NaN											0	0	0	0.002836	0	32	69				
ABHD10	55347	broad.mit.edu	37	3	111697910	111697910	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:111697910T>G	uc003dyk.3	+	1	83	c.2T>G	c.(1-3)ATG>AGG	p.M1R	ABHD10_uc011bhq.1_5'UTR	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10 precursor	1						mitochondrion	serine-type peptidase activity				0						ACTACGAAGATGGCGGTTGCG	0.672		NaN											0	0	0	0.003163	0	12	49				
PARP14	54625	broad.mit.edu	37	3	122437771	122437771	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:122437771C>T	uc003efq.3	+	14	4832	c.4773C>T	c.(4771-4773)CAC>CAT	p.H1591H	PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Silent_p.H1308H|PARP14_uc003efs.1_Silent_p.H1308H	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1591	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			ovary(2)|breast(2)|lung(1)|pancreas(1)	6				GBM - Glioblastoma multiforme(114;0.0531)		CAAAGGGCCACAGTTTATCTG	0.393		NaN											0	0	0	0.00308	0	8	38				
MYLK	4638	broad.mit.edu	37	3	123367843	123367843	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:123367843A>T	uc003ego.2	-	26	4672	c.4390T>A	c.(4390-4392)TAC>AAC	p.Y1464N	MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.Y264N|MYLK_uc011bjw.1_Missense_Mutation_p.Y1464N|MYLK_uc003egp.2_Missense_Mutation_p.Y1395N|MYLK_uc003egq.2_Missense_Mutation_p.Y1464N|MYLK_uc003egr.2_Missense_Mutation_p.Y1395N|MYLK_uc003egs.2_Missense_Mutation_p.Y1288N	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1464	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCAATGTCGTAGAAGTCAGAT	0.517		NaN											0	0	0	0.007291	0	28	114				
PPP2R3A	5523	broad.mit.edu	37	3	135721464	135721464	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:135721464A>T	uc003eqv.1	+	2	1689	c.1124A>T	c.(1123-1125)AAT>ATT	p.N375I	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	375					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						AACTCCACAAATTCCTTATAT	0.363		NaN											0	0	0	0.00333	0	25	67				
TXNDC6	347736	broad.mit.edu	37	3	138024902	138024902	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:138024902C>G	uc003esg.2	-	8	608	c.580G>C	c.(580-582)GAG>CAG	p.E194Q	TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Missense_Mutation_p.E109Q|TXNDC6_uc003ese.1_Missense_Mutation_p.E133Q	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	thioredoxin domain containing 6	194	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			breast(3)|ovary(1)|pancreas(1)	5						ATGGTTCTCTCTTCATTTGTT	0.373		NaN											0	0	0	0.002522	0	40	129				
TRIM42	287015	broad.mit.edu	37	3	140397361	140397361	+	Missense_Mutation	SNP	G	G	A	rs144112519		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:140397361G>A	uc003eto.1	+	1	481	c.290G>A	c.(289-291)CGC>CAC	p.R97H		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	tripartite motif-containing 42	97						intracellular	zinc ion binding			lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						CGCTGCTGCCGCAATACCATC	0.542		NaN											0	0	0	0.00278	0	22	41				
XRN1	54464	broad.mit.edu	37	3	142140317	142140317	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:142140317C>T	uc003eus.2	-	9	1102	c.1035_splice	c.e9+1	p.D345_splice	XRN1_uc003eut.2_Splice_Site_p.D345_splice|XRN1_uc003euu.2_Splice_Site_p.D345_splice|XRN1_uc003euv.1_Splice_Site_p.D206_splice|XRN1_uc003euw.2_Splice_Site_p.D345_splice|XRN1_uc011bnh.1_Splice_Site_p.D135_splice	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1 isoform a						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			ovary(3)	3						TAGTTACTTACATCTGATAGT	0.318		NaN											0	0	0	0.001984	0	6	40				
PLOD2	5352	broad.mit.edu	37	3	145796998	145796998	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:145796998C>T	uc003evs.1	-	13	1911	c.1405G>A	c.(1405-1407)GGA>AGA	p.G469R	PLOD2_uc003evq.1_Missense_Mutation_p.G129R|PLOD2_uc011bnm.1_Missense_Mutation_p.G414R|PLOD2_uc003evr.1_Missense_Mutation_p.G469R	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	469					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2					Vitamin C(DB00126)	AGTGTCTTTCCTTTAATTAAG	0.348		NaN											0	0	0	0.005443	0	29	53				
HPS3	84343	broad.mit.edu	37	3	148863304	148863304	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:148863304C>T	uc003ewu.1	+	5	1274	c.1134C>T	c.(1132-1134)CTC>CTT	p.L378L	HPS3_uc003ewt.1_Silent_p.L378L|HPS3_uc011bnq.1_Silent_p.L213L	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3 protein	378						cytoplasm				ovary(5)|large_intestine(1)	6			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGGCAGTACTCACGCCACAAT	0.413		NaN							Hermansky-Pudlak_syndrome				0	0	0	0.00361	0	50	107				
MED12L	116931	broad.mit.edu	37	3	151102873	151102873	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:151102873C>T	uc003eyp.2	+	34	4915	c.4877C>T	c.(4876-4878)CCT>CTT	p.P1626L	MED12L_uc011bnz.1_Missense_Mutation_p.P1486L|P2RY12_uc011boa.1_5'Flank|P2RY12_uc003eyx.1_5'Flank|MED12L_uc003eyy.1_Missense_Mutation_p.P789L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	mediator of RNA polymerase II transcription,	1626					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGTTACTACCTTTGCCGAAA	0.388		NaN											0	0	0	0.00361	0	52	161				
SGEF	26084	broad.mit.edu	37	3	153847391	153847391	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:153847391G>A	uc011bog.1	+	4	1363	c.1152G>A	c.(1150-1152)AAG>AAA	p.K384K	SGEF_uc011boh.1_Silent_p.K384K	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	384					regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AAAACTACAAGGAAAAGGCCC	0.363		NaN											0	0	0	0.00308	0	7	16				
SLITRK3	22865	broad.mit.edu	37	3	164907052	164907052	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:164907052C>G	uc003fej.3	-	2	2011	c.1567G>C	c.(1567-1569)GCC>CCC	p.A523P	SLITRK3_uc003fek.2_Missense_Mutation_p.A523P	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	523	LRR 11.|Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10						CCAGCAAAGGCGTCTGTTGGC	0.522		NaN								HNSCC(40;0.11)			0	0	0	0.007413	0	19	52				
CCDC39	339829	broad.mit.edu	37	3	180372711	180372711	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:180372711C>G	uc010hxe.2	-	7	884	c.769G>C	c.(769-771)GAA>CAA	p.E257Q	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	257	Potential.				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTTCTTTTTCTCTCGTTTCC	0.294		NaN											0	0	0	0.00308	0	8	30				
CCDC39	339829	broad.mit.edu	37	3	180397161	180397161	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:180397161C>A	uc010hxe.2	-	1	123	c.8G>T	c.(7-9)AGC>ATC	p.S3I	CCDC39_uc003fkn.2_RNA	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	3					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				ovary(4)	4	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CAGGAATTCGCTACTCATGAC	0.552		NaN											1	0	2.10328e-26	0.00361	2.81522e-26	73	194				
CCDC50	152137	broad.mit.edu	37	3	191098675	191098675	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:191098675G>A	uc003fsw.2	+	8	1258	c.668G>A	c.(667-669)CGG>CAG	p.R223Q	CCDC50_uc003fsv.2_Missense_Mutation_p.R399Q	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	Ymer protein short isoform	223	Lys-rich.					cytoplasm	protein binding				0	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GCCAAGGAGCGGGAGAAATCA	0.368		NaN											0	0	0	0.001855	0	12	20				
FYTTD1	84248	broad.mit.edu	37	3	197476889	197476889	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:197476889C>T	uc003fyi.2	+	1	266	c.47C>T	c.(46-48)TCG>TTG	p.S16L	KIAA0226_uc003fyd.3_5'Flank|KIAA0226_uc003fyf.2_5'Flank|FYTTD1_uc011bui.1_Intron|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_5'Flank	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1 isoform 1	16					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding				0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		GCGACTTCTTCGCCGCCGCCG	0.652		NaN											0	0	0	0.004656	0	21	19				
MFSD7	84179	broad.mit.edu	37	4	682809	682809	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:682809G>A	uc003gay.2	-	1	165	c.108C>T	c.(106-108)ATC>ATT	p.I36I	MFSD7_uc003gax.2_Silent_p.I36I|MFSD7_uc003gaz.2_Silent_p.I36I|MFSD7_uc003gba.2_Silent_p.I36I|MFSD7_uc003gbb.1_5'Flank	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing	36	Helical; (Potential).				transmembrane transport	integral to membrane					0						TGAGCAGGCTGATCGCGAGCA	0.721		NaN											0	0	0	0.00245	0	13	19				
WHSC1	7468	broad.mit.edu	37	4	1957573	1957573	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:1957573A>G	uc003gdz.3	+	14	2848	c.2672A>G	c.(2671-2673)TAC>TGC	p.Y891C	WHSC1_uc003geb.3_Missense_Mutation_p.Y891C|WHSC1_uc003gec.3_Missense_Mutation_p.Y891C|WHSC1_uc003ged.3_Missense_Mutation_p.Y891C|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.Y110C|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Missense_Mutation_p.Y239C	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	891	PWWP 2.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTTGGGAACTACAGGTGTGAG	0.433		NaN	T	IGH@	MM								0	0	0	0.008361	0	30	47				
DOK7	285489	broad.mit.edu	37	4	3475151	3475151	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:3475151T>C	uc003ghd.2	+	3	189	c.119T>C	c.(118-120)GTC>GCC	p.V40A	DOK7_uc003ghe.2_5'UTR	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	40	PH.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGATGCTGGTCTACAAGGAC	0.687		NaN											0	0	0	0.004007	0	16	94				
LDB2	9079	broad.mit.edu	37	4	16597444	16597444	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:16597444A>C	uc003goz.2	-	3	606	c.290T>G	c.(289-291)GTG>GGG	p.V97G	LDB2_uc003gpa.2_Missense_Mutation_p.V97G|LDB2_uc003gpb.2_Missense_Mutation_p.V97G|LDB2_uc011bxh.1_Missense_Mutation_p.V97G|LDB2_uc010iee.2_Missense_Mutation_p.V97G|LDB2_uc003goy.2_5'UTR|LDB2_uc011bxi.1_5'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	97							LIM domain binding|transcription cofactor activity				0						CAGGTCGGTCACCCCTCCTTC	0.493		NaN											0	0	0	0.004482	0	5	63				
PDS5A	23244	broad.mit.edu	37	4	39850583	39850583	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:39850583T>C	uc003guv.3	-	28	3767	c.3227A>G	c.(3226-3228)TAT>TGT	p.Y1076C	PDS5A_uc010ifo.2_Missense_Mutation_p.Y1036C	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog	1076					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding				0						ACATACTGTATACAGTTTCTA	0.313		NaN											0	0	0	0.001168	0	6	25				
GNPDA2	132789	broad.mit.edu	37	4	44709782	44709782	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:44709782C>T	uc003gwy.2	-	6	913	c.756G>A	c.(754-756)GTG>GTA	p.V252V	GNPDA2_uc010iga.2_Silent_p.V218V|GNPDA2_uc011bzb.1_Silent_p.V182V|GNPDA2_uc003gwz.1_Silent_p.V252V	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	252					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			ovary(1)	1						TAAAGTATTTCACAGTTTTAA	0.388		NaN											0	0	0	0.001368	0	10	21				
FRYL	285527	broad.mit.edu	37	4	48578237	48578237	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:48578237C>T	uc003gyh.1	-	24	3136	c.2531G>A	c.(2530-2532)AGC>AAC	p.S844N	FRYL_uc003gyk.2_Missense_Mutation_p.S844N	NM_015030	NP_055845	O94915	FRYL_HUMAN	furry-like	844					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1						ATTGATGGGGCTACTAAGGAA	0.323		NaN											0	0	0	0.00278	0	20	65				
AASDH	132949	broad.mit.edu	37	4	57215543	57215543	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:57215543G>T	uc003hbn.2	-	11	2527	c.2374C>A	c.(2374-2376)CAT>AAT	p.H792N	AASDH_uc010ihb.2_Missense_Mutation_p.H307N|AASDH_uc011caa.1_Missense_Mutation_p.H639N|AASDH_uc003hbo.2_Missense_Mutation_p.H692N|AASDH_uc011cab.1_Missense_Mutation_p.H307N|AASDH_uc010ihc.2_Missense_Mutation_p.H792N|AASDH_uc003hbp.2_Missense_Mutation_p.H792N	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	792					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTCATTCTATGAGAATGGGAA	0.418		NaN											1	0	1.88708e-17	0.008361	2.45826e-17	31	112				
YTHDC1	91746	broad.mit.edu	37	4	69196015	69196015	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:69196015G>A	uc003hdx.2	-	8	1489	c.1136C>T	c.(1135-1137)ACG>ATG	p.T379M	YTHDC1_uc003hdy.2_Missense_Mutation_p.T361M	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	379	YTH.									upper_aerodigestive_tract(1)|ovary(1)	2						TACAGGGAGCGTGGACCATAC	0.318		NaN											0	0	0	0.003163	0	13	26				
AMBN	258	broad.mit.edu	37	4	71459051	71459051	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:71459051T>C	uc003hfl.2	+	2	98	c.23T>C	c.(22-24)CTT>CCT	p.L8P		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	8					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			TAGATTCCACTTTTCAAAATG	0.353		NaN											0	0	0	0.001855	0	12	83				
AMBN	258	broad.mit.edu	37	4	71459067	71459067	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:71459067C>T	uc003hfl.2	+	2	114	c.39C>T	c.(37-39)GAC>GAT	p.D13D		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	ameloblastin precursor	13					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			ovary(3)|skin(1)	4			Lung(101;0.235)			AAATGAAGGACCTGATACTGA	0.343		NaN											0	0	0	0.001523	0	17	98				
FRAS1	80144	broad.mit.edu	37	4	79367924	79367924	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:79367924G>A	uc003hlb.2	+	43	6340	c.5900G>A	c.(5899-5901)AGA>AAA	p.R1967K		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1966	CSPG 8.|Extracellular (Potential).				cell communication	integral to membrane|plasma membrane	metal ion binding			large_intestine(5)	5						CAGCCCCTCAGAGTGCAGCTG	0.433		NaN											0	0	0	0.001855	0	13	25				
PRDM8	56978	broad.mit.edu	37	4	81123531	81123531	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:81123531C>T	uc010ijo.2	+	8	1754	c.915C>T	c.(913-915)ATC>ATT	p.I305I	PRDM8_uc003hmb.3_Silent_p.I305I|PRDM8_uc003hmc.3_Silent_p.I305I	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	305	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						CCGACGGCATCGCCACGGGCG	0.607		NaN									OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00308	0	8	17				
HNRNPD	3184	broad.mit.edu	37	4	83280703	83280703	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:83280703G>A	uc003hmm.1	-	3	698	c.380C>T	c.(379-381)ACT>ATT	p.T127I	HNRNPD_uc003hml.1_RNA|HNRNPD_uc003hmn.1_Missense_Mutation_p.T108I|HNRNPD_uc003hmo.1_Missense_Mutation_p.T127I|HNRNPD_uc003hmp.1_Missense_Mutation_p.T108I|HNRNPD_uc010ijr.1_Missense_Mutation_p.T108I|HNRNPD_uc011cci.1_Intron	NM_031370	NP_112738	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D	127	RRM 1.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding				0						TAACTTCAGAGTGCAGTCTAC	0.408		NaN											0	0	0	0.00632	0	28	84				
SEC31A	22872	broad.mit.edu	37	4	83778203	83778203	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:83778203T>C	uc003hnf.2	-	16	1947	c.1783A>G	c.(1783-1785)ATG>GTG	p.M595V	SEC31A_uc003hne.2_Missense_Mutation_p.M328V|SEC31A_uc011ccl.1_Missense_Mutation_p.M556V|SEC31A_uc003hnl.2_Missense_Mutation_p.M556V|SEC31A_uc003hng.2_Missense_Mutation_p.M595V|SEC31A_uc003hnh.2_Missense_Mutation_p.M595V|SEC31A_uc003hni.2_Missense_Mutation_p.M595V|SEC31A_uc003hnj.2_Missense_Mutation_p.M556V|SEC31A_uc011ccm.1_Missense_Mutation_p.M590V|SEC31A_uc011ccn.1_Missense_Mutation_p.M595V|SEC31A_uc003hnk.2_Missense_Mutation_p.M556V|SEC31A_uc003hnm.2_Missense_Mutation_p.M595V|SEC31A_uc003hnn.1_Missense_Mutation_p.M595V	NM_001077207	NP_001070675	O94979	SC31A_HUMAN	SEC31 homolog A isoform 1	595					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/JAK2(4)|SEC31A/ALK(3)	haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8		Hepatocellular(203;0.114)				GCATCGGCCATGCGGTTATCA	0.418		NaN											0	0	0	0.001882	0	23	61				
HELQ	113510	broad.mit.edu	37	4	84364763	84364763	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:84364763C>T	uc003hom.2	-	6	1649	c.1470G>A	c.(1468-1470)ACG>ACA	p.T490T	HELQ_uc010ikb.2_Silent_p.T423T|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_Intron	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	490	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						TAATTTGAGTCGTTTCTAAAA	0.289		NaN						Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					0	0	0	0.00245	0	15	30				
WDFY3	23001	broad.mit.edu	37	4	85687004	85687004	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:85687004T>A	uc003hpd.2	-	32	5555	c.5147A>T	c.(5146-5148)CAG>CTG	p.Q1716L		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3 isoform	1716						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGAATCTGTCTGTTCAAGCCA	0.378		NaN											0	0	0	0.002299	0	22	79				
SLC10A6	345274	broad.mit.edu	37	4	87770173	87770173	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:87770173G>A	uc003hqd.2	-	1	244	c.96C>T	c.(94-96)CTC>CTT	p.L32L		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	sodium-dependent organic anion transporter	32	Helical; (Potential).					integral to membrane|plasma membrane	bile acid:sodium symporter activity				0		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CTGTGAAAACGAGCTCCAGGT	0.562		NaN											0	0	0	0.00278	0	24	61				
PPP3CA	5530	broad.mit.edu	37	4	102267947	102267947	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:102267947C>T	uc011cen.1	-	1	682	c.7G>A	c.(7-9)GAG>AAG	p.E3K	PPP3CA_uc003hvu.2_Missense_Mutation_p.E3K|PPP3CA_uc010ilj.2_Missense_Mutation_p.E3K|PPP3CA_uc003hvt.2_5'UTR|PPP3CA_uc003hvs.2_Missense_Mutation_p.E3K|PPP3CA_uc010ilk.2_Missense_Mutation_p.E3K|uc003hvw.2_5'Flank	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	3	Catalytic.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCCTTGGGCTCGGACATCTCC	0.637		NaN											0	0	0	0.008291	0	10	33				
CENPE	1062	broad.mit.edu	37	4	104066984	104066984	+	Splice_Site	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:104066984A>T	uc003hxb.1	-	30	4503	c.4413_splice	c.e30+1	p.K1471_splice	CENPE_uc003hxc.1_Splice_Site_p.K1446_splice	NM_001813	NP_001804	Q02224	CENPE_HUMAN	centromere protein E						blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			ovary(5)|breast(4)	9				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GATGAAACCTACTTTAGCTAC	0.308		NaN											0	0	0	0.006122	0	19	51				
PITX2	5308	broad.mit.edu	37	4	111539518	111539518	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:111539518G>A	uc003iad.2	-	5	1299	c.717C>T	c.(715-717)CTC>CTT	p.L239L	PITX2_uc003iac.2_Silent_p.L246L|PITX2_uc003iae.2_Silent_p.L193L|PITX2_uc010iml.2_Silent_p.L110L|PITX2_uc003iaf.2_Silent_p.L239L	NM_153426	NP_700475	Q99697	PITX2_HUMAN	paired-like homeodomain transcription factor 2	239					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TCAGGCTGTTGAGACTGGAGC	0.582		NaN											0	0	0	0.00333	0	24	65				
PRDM5	11107	broad.mit.edu	37	4	121843681	121843681	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:121843681C>T	uc003idn.2	-	1	333	c.83G>A	c.(82-84)AGA>AAA	p.R28K	PRDM5_uc003ido.2_Missense_Mutation_p.R28K|PRDM5_uc010ine.2_Missense_Mutation_p.R28K|PRDM5_uc010inf.2_Missense_Mutation_p.R28K|PRDM5_uc003idp.1_Missense_Mutation_p.R28K	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	28	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2						CTTTCGCACTCTGCGGGCCGT	0.672		NaN											0	0	0	0.003163	0	11	32				
QRFPR	84109	broad.mit.edu	37	4	122250851	122250851	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:122250851T>A	uc010inj.1	-	6	1293	c.914A>T	c.(913-915)TAT>TTT	p.Y305F	QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_3'UTR	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	G protein-coupled receptor 103	305	Extracellular (Potential).					plasma membrane	neuropeptide Y receptor activity				0						GACATCATCATATTCCTTTTC	0.289		NaN											0	0	0	0.00308	0	8	10				
FAT4	79633	broad.mit.edu	37	4	126370445	126370445	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:126370445A>C	uc003ifj.3	+	9	8274	c.8274A>C	c.(8272-8274)AAA>AAC	p.K2758N	FAT4_uc011cgp.1_Missense_Mutation_p.K1056N|FAT4_uc003ifi.1_Missense_Mutation_p.K236N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2758	Cadherin 26.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						CTTCAGTAAAAGTCATGATTA	0.378		NaN											0	0	0	0.00632	0	29	109				
HSPA4L	22824	broad.mit.edu	37	4	128751844	128751844	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:128751844T>C	uc003ifm.2	+	18	2471	c.2218T>C	c.(2218-2220)TGT>CGT	p.C740R	HSPA4L_uc011cgr.1_Missense_Mutation_p.C707R	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	740					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4						GGTTGAAAAATGTATCAGTGA	0.343		NaN											0	0	0	0.007413	0	18	32				
ABCE1	6059	broad.mit.edu	37	4	146046206	146046206	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:146046206G>A	uc003ijx.2	+	17	2145	c.1705G>A	c.(1705-1707)GAT>AAT	p.D569N	ABCE1_uc003ijy.2_Missense_Mutation_p.D569N|ABCE1_uc010iot.2_RNA	NM_001040876	NP_001035809	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E, member 1	569					interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			skin(1)	1	all_hematologic(180;0.151)					ATTCAGAAGAGATCCAAACAA	0.294		NaN											0	0	0	0.001882	0	16	83				
LRBA	987	broad.mit.edu	37	4	151223937	151223937	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:151223937C>T	uc010ipj.2	-	54	8364	c.7890G>A	c.(7888-7890)TTG>TTA	p.L2630L	LRBA_uc010ipi.2_Silent_p.L152L|LRBA_uc003ils.3_Silent_p.L525L|LRBA_uc003ilt.3_Silent_p.L1278L|LRBA_uc003ilu.3_Silent_p.L2619L|LRBA_uc003ilr.3_Silent_p.L50L	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2630	WD 2.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)					CCACTTGGATCAATCTTCCTG	0.363		NaN											0	0	0	0.007413	0	18	70				
FBXW7	55294	broad.mit.edu	37	4	153250906	153250906	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:153250906G>T	uc003ims.2	-	8	1303	c.1154C>A	c.(1153-1155)ACA>AAA	p.T385K	FBXW7_uc011cii.1_Missense_Mutation_p.T385K|FBXW7_uc003imt.2_Missense_Mutation_p.T385K|FBXW7_uc011cih.1_Missense_Mutation_p.T209K|FBXW7_uc003imq.2_Missense_Mutation_p.T305K|FBXW7_uc003imr.2_Missense_Mutation_p.T267K	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	385	WD 1.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding			haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTGTAAGCATGTGATCACATG	0.343		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								1	0	2.37509e-13	0.001523	3.05818e-13	20	92		Valid		
TRIM2	23321	broad.mit.edu	37	4	154243942	154243942	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:154243942G>A	uc003ing.2	+	9	2045	c.1844G>A	c.(1843-1845)CGA>CAA	p.R615Q	TRIM2_uc003inh.2_Missense_Mutation_p.R642Q	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	615	NHL 4.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TTTGGTAGCCGAGGAAATGGG	0.473		NaN											0	0	0	0.002299	0	22	47				
TRIM2	23321	broad.mit.edu	37	4	154243969	154243969	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:154243969G>A	uc003ing.2	+	9	2071	c.1870_splice	c.e9+1	p.G624_splice	TRIM2_uc003inh.2_Splice_Site_p.G651_splice	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2							cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAGTTTGCAGGTACACTCGAT	0.473		NaN											0	0	0	0.005443	0	25	35				
RBM46	166863	broad.mit.edu	37	4	155749131	155749131	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:155749131G>A	uc003ioo.2	+	5	1687	c.1514G>A	c.(1513-1515)GGC>GAC	p.G505D	RBM46_uc011cim.1_3'UTR|RBM46_uc003iop.1_3'UTR	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	505							nucleotide binding|RNA binding			central_nervous_system(1)|skin(1)	2	all_hematologic(180;0.24)	Renal(120;0.0854)				TCTTATCCAGGCTATCCTTTG	0.453		NaN											0	0	0	0.00361	0	59	176				
NPY5R	4889	broad.mit.edu	37	4	164272420	164272420	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:164272420G>A	uc003iqn.2	+	4	1177	c.995G>A	c.(994-996)GGG>GAG	p.G332E		NM_006174	NP_006165	Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	332	Cytoplasmic (Potential).				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				lung(6)|skin(1)	7	all_hematologic(180;0.166)	Prostate(90;0.109)				TTCATACCAGGGGTCCCCACT	0.398		NaN											0	0	0	0.00245	0	12	58				
PALLD	23022	broad.mit.edu	37	4	169819719	169819719	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:169819719G>A	uc011cjx.1	+	14	2537	c.2326G>A	c.(2326-2328)GAA>AAA	p.E776K	CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Missense_Mutation_p.E759K|PALLD_uc003irv.2_Missense_Mutation_p.E377K|PALLD_uc003irw.2_Missense_Mutation_p.E261K|PALLD_uc003irx.2_5'UTR	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN	palladin isoform 2	983					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			ovary(1)	1		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCCTGTGGATGAATCAGGTGA	0.408		NaN							Pancreatic_Cancer_Familial_Clustering_of				0	0	0	0.000978	0	12	57				
UFSP2	55325	broad.mit.edu	37	4	186324770	186324770	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:186324770C>T	uc003ixo.2	-	11	1318	c.1201G>A	c.(1201-1203)GGA>AGA	p.G401R	UFSP2_uc003ixn.2_Missense_Mutation_p.G276R|UFSP2_uc003ixq.2_Missense_Mutation_p.G291R|UFSP2_uc003ixp.2_RNA	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	401						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity				0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		AAAACTCCTCCCCCTATAGAA	0.338		NaN											0	0	0	0.007413	0	19	63				
FASTKD3	79072	broad.mit.edu	37	5	7867567	7867567	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:7867567T>C	uc003jeb.2	-	2	767	c.630A>G	c.(628-630)AAA>AAG	p.K210K	FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	210					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4						CCATGCCACCTTTTCTGAGAC	0.433		NaN											0	0	0	0.002522	0	45	96				
PDZD2	23037	broad.mit.edu	37	5	32059441	32059441	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:32059441C>A	uc003jhl.2	+	13	2685	c.2297C>A	c.(2296-2298)GCC>GAC	p.A766D	PDZD2_uc003jhm.2_Missense_Mutation_p.A766D|PDZD2_uc011cnx.1_Missense_Mutation_p.A592D	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	766	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GGATCAGTGGCCAAGATGGAG	0.448		NaN											1	0	6.49762e-13	0.006122	8.3114e-13	17	43				
RAI14	26064	broad.mit.edu	37	5	34821857	34821857	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:34821857A>G	uc003jir.2	+	14	1211	c.1015A>G	c.(1015-1017)ATA>GTA	p.I339V	RAI14_uc010iur.2_Missense_Mutation_p.I310V|RAI14_uc011coj.1_Missense_Mutation_p.I339V|RAI14_uc010ius.1_Missense_Mutation_p.I268V|RAI14_uc003jis.2_Missense_Mutation_p.I342V|RAI14_uc003jit.2_Missense_Mutation_p.I339V|RAI14_uc011cok.1_Missense_Mutation_p.I331V	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14 isoform a	339						cell cortex|cytoskeleton	protein binding			ovary(1)	1	all_lung(31;0.000191)					CTTATTGGATATAAGTTCTGA	0.348		NaN											0	0	0	0.00278	0	22	97				
NIPBL	25836	broad.mit.edu	37	5	37059268	37059268	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:37059268G>A	uc003jkl.3	+	44	8184	c.7685_splice	c.e44+1	p.S2562_splice	NIPBL_uc003jkk.3_Splice_Site_p.S2562_splice|NIPBL_uc003jkn.2_Splice_Site_p.S255_splice	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTCTGATAGGTAAGGTTACA	0.244		NaN											0	0	0	0.00499	0	18	77				
C9	735	broad.mit.edu	37	5	39341658	39341658	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:39341658C>T	uc003jlv.3	-	3	417	c.328G>A	c.(328-330)GGC>AGC	p.G110S		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	110	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CAAAGATTACCTGTACTGCAT	0.463		NaN											0	0	0	0.00278	0	20	86				
HEATR7B2	133558	broad.mit.edu	37	5	41009477	41009477	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:41009477C>T	uc003jmj.3	-	32	3815	c.3325G>A	c.(3325-3327)GAA>AAA	p.E1109K	HEATR7B2_uc003jmi.3_Missense_Mutation_p.E664K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1109							binding			ovary(6)|central_nervous_system(2)	8						GCTGGCTTTTCAGCCAGCGCC	0.498		NaN											0	0	0	0.00361	0	49	121				
PARP8	79668	broad.mit.edu	37	5	50090057	50090057	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:50090057G>A	uc003jon.3	+	12	936	c.754G>A	c.(754-756)GTT>ATT	p.V252I	PARP8_uc011cpz.1_Missense_Mutation_p.V144I|PARP8_uc003joo.2_Missense_Mutation_p.V252I|PARP8_uc003jop.2_Missense_Mutation_p.V252I	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	252						intracellular	NAD+ ADP-ribosyltransferase activity			lung(3)|large_intestine(1)|ovary(1)	5		Lung NSC(810;0.0305)|Breast(144;0.222)				GCAGACATTTGTTACACAGCA	0.343		NaN											0	0	0	0.001855	0	13	48				
CDC20B	166979	broad.mit.edu	37	5	54436170	54436170	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:54436170G>C	uc003jpo.1	-	5	727	c.552C>G	c.(550-552)CTC>CTG	p.L184L	CDC20B_uc003jpn.1_Silent_p.L184L|CDC20B_uc010ivu.1_Silent_p.L184L|CDC20B_uc010ivv.1_Silent_p.L184L|CDC20B_uc003jpp.2_RNA	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	CDC20 cell division cycle 20 homolog B isoform	184											0		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATTGCTCACAGAGCTGCATTT	0.408		NaN											0	0	0	0.008871	0	18	38				
ARSB	411	broad.mit.edu	37	5	78280775	78280775	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:78280775G>A	uc003kfq.2	-	1	1583	c.297C>T	c.(295-297)CTC>CTT	p.L99L	ARSB_uc003kfr.3_Silent_p.L99L	NM_000046	NP_000037	P15848	ARSB_HUMAN	arylsulfatase B isoform 1 precursor	99					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			upper_aerodigestive_tract(1)	1		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		AGCGGCCAGTGAGCAGCTGGC	0.512		NaN											0	0	0	0.000602	0	5	10				
ZFYVE16	9765	broad.mit.edu	37	5	79733327	79733327	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:79733327G>T	uc003kgr.3	+	4	1125	c.823G>T	c.(823-825)GTT>TTT	p.V275F	ZFYVE16_uc010jak.1_Missense_Mutation_p.V275F|ZFYVE16_uc003kgp.2_Missense_Mutation_p.V275F|ZFYVE16_uc003kgq.3_Missense_Mutation_p.V275F|ZFYVE16_uc003kgs.3_Missense_Mutation_p.V275F	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	275					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACTAAAAGATGTTGGCTTAGT	0.418		NaN											1	0	6.00712e-18	0.002445	7.83844e-18	32	82				
GPR98	84059	broad.mit.edu	37	5	90086879	90086879	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:90086879C>A	uc003kju.2	+	70	14329	c.14233C>A	c.(14233-14235)CTG>ATG	p.L4745M	GPR98_uc003kjt.2_Missense_Mutation_p.L2451M|GPR98_uc003kjw.2_Missense_Mutation_p.L406M	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	4745	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)		CGAACTGGATCTGGAGAAGAG	0.443		NaN											1	0	3.08376e-08	0.00333	3.83134e-08	25	58				
MCTP1	79772	broad.mit.edu	37	5	94245027	94245027	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:94245027T>C	uc003kkx.2	-	10	1581	c.1581A>G	c.(1579-1581)GAA>GAG	p.E527E	MCTP1_uc003kkv.2_Silent_p.E306E|MCTP1_uc003kkw.2_Silent_p.E260E|MCTP1_uc003kkz.2_Silent_p.E188E|MCTP1_uc003kku.2_Silent_p.E43E	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1 isoform L	527	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			ovary(2)	2		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTCCTCTTTCTTCATAAAGGT	0.368		NaN											0	0	0	0.006122	0	19	70				
CHD1	1105	broad.mit.edu	37	5	98240643	98240643	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:98240643T>G	uc003knf.2	-	2	361	c.213A>C	c.(211-213)GAA>GAC	p.E71D		NM_001270	NP_001261	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	71					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			lung(2)|ovary(1)|breast(1)|pancreas(1)	5		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GAACTTTGTTTTCTCGGGAAG	0.433		NaN											0	0	0	0.00361	0	65	98				
SLC25A46	91137	broad.mit.edu	37	5	110097170	110097170	+	Silent	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:110097170A>T	uc003koz.2	+	8	1012	c.945A>T	c.(943-945)CCA>CCT	p.P315P	SLC25A46_uc011cvi.1_Silent_p.P224P	NM_138773	NP_620128	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	315	Solcar 2.|Helical; Name=5; (Potential).				transport	integral to membrane|mitochondrial inner membrane					0		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		CTTATTTTCCAGAACTTATTG	0.413		NaN											0	0	0	0.00361	0	86	215				
EPB41L4A	64097	broad.mit.edu	37	5	111506035	111506035	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:111506035C>T	uc003kpv.1	-	20	1976	c.1702G>A	c.(1702-1704)GAA>AAA	p.E568K	EPB41L4A_uc003kpp.1_Missense_Mutation_p.E195K|EPB41L4A_uc003kpu.1_5'Flank	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte protein band 4.1-like 4	568						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AATTGTTCTTCGGACAATCCG	0.363		NaN											0	0	0	0.001855	0	11	37				
YTHDC2	64848	broad.mit.edu	37	5	112903525	112903525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:112903525C>T	uc003kqn.2	+	23	3406	c.3223C>T	c.(3223-3225)CAG>TAG	p.Q1075*		NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1075							ATP binding|ATP-dependent helicase activity|nucleic acid binding			skin(2)|central_nervous_system(1)	3		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TAATGCTCTTCAGGAACCTTC	0.318		NaN											0	0	0	0.00361	0	40	79				
ACSL6	23305	broad.mit.edu	37	5	131310491	131310491	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:131310491G>T	uc010jdo.1	-	11	1036	c.953C>A	c.(952-954)TCC>TAC	p.S318Y	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.S343Y|ACSL6_uc003kvy.1_Intron|ACSL6_uc003kwb.2_Missense_Mutation_p.S308Y|ACSL6_uc003kvz.1_Intron|ACSL6_uc003kwa.1_Intron|ACSL6_uc003kvw.1_5'Flank|ACSL6_uc010jdn.1_Intron|ACSL6_uc010jdp.1_Intron	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	318	Cytoplasmic (Potential).				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCAAATAGGAAATGTGCAC	0.542		NaN											1	0	0.00621372	0.006214	0.00750463	10	23				
SLC22A4	6583	broad.mit.edu	37	5	131630518	131630518	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:131630518G>A	uc003kwq.2	+	1	374	c.209G>A	c.(208-210)CGG>CAG	p.R70Q	uc003kwm.3_Intron|SLC22A4_uc010jdq.1_5'Flank	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	solute carrier family 22 member 4	70	Extracellular (Potential).				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity				0		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GTCCCGCTGCGGCTGCGGGAC	0.726		NaN											0	0	0	0.001368	0	13	21				
GDF9	2661	broad.mit.edu	37	5	132197956	132197956	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:132197956A>G	uc003kxz.1	-	2	942	c.690T>C	c.(688-690)AGT>AGC	p.S230S	GDF9_uc011cxj.1_Silent_p.S142S	NM_005260	NP_005251	O60383	GDF9_HUMAN	growth differentiation factor 9 precursor	230					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			skin(1)	1		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACATGTGAATACTTCTCTTGT	0.408		NaN											0	0	0	0.008361	0	31	62				
AFF4	27125	broad.mit.edu	37	5	132223808	132223808	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:132223808T>A	uc003kyd.2	-	15	3185	c.2777A>T	c.(2776-2778)AAG>ATG	p.K926M	AFF4_uc011cxk.1_Missense_Mutation_p.K604M	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	926					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCATTGTGCTTTAGCTTTTT	0.274		NaN											0	0	0	0.00245	0	14	36				
C5orf15	56951	broad.mit.edu	37	5	133295523	133295523	+	Missense_Mutation	SNP	G	G	A	rs11540542		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:133295523G>A	uc003kyo.2	-	2	459	c.328C>T	c.(328-330)CCT>TCT	p.P110S		NM_020199	NP_064584	Q8NC54	KCT2_HUMAN	keratinocytes associated transmembrane protein 2	110	Extracellular (Potential).					integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TGAGACAGAGGAGTAGGCGAG	0.493		NaN											0	0	0	0.006214	0	8	34				
CDC25C	995	broad.mit.edu	37	5	137622194	137622194	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:137622194G>A	uc003lcp.1	-	12	1423	c.1152C>T	c.(1150-1152)GGC>GGT	p.G384G	CDC25C_uc003lcq.1_Silent_p.G311G|CDC25C_uc003lcr.1_Silent_p.G384G|CDC25C_uc011cyp.1_Silent_p.G401G|CDC25C_uc003lcs.1_Silent_p.G462G	NM_001790	NP_001781	P30307	MPIP3_HUMAN	cell division cycle 25C isoform a	384	Rhodanese.				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			lung(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACATTCGGGGGCCCCTCTCTG	0.478		NaN											0	0	0	0.002222	0	43	97				
PCDHA6	56142	broad.mit.edu	37	5	140209996	140209996	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:140209996C>T	uc003lho.2	+	1	2347	c.2320C>T	c.(2320-2322)CCC>TCC	p.P774S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.P774S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	774	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTTTAGCCCCAGCCTTTC	0.517		NaN											0	0	0	0.006999	0	34	75				
SLC36A2	153201	broad.mit.edu	37	5	150701700	150701700	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:150701700C>T	uc003lty.2	-	9	1217	c.1087G>A	c.(1087-1089)GAA>AAA	p.E363K	GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.E165K|SLC36A2_uc010jhv.2_Missense_Mutation_p.E363K	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	solute carrier family 36, member 2	363	Helical; (Potential).				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGATGATTTCTGCAGGGACG	0.552		NaN											0	0	0	0.00333	0	25	63				
FAT2	2196	broad.mit.edu	37	5	150931089	150931089	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:150931089C>T	uc003lue.3	-	6	4248	c.4235G>A	c.(4234-4236)AGA>AAA	p.R1412K	GM2A_uc011dcs.1_Intron	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	FAT tumor suppressor 2 precursor	1412	Extracellular (Potential).|Cadherin 12.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTCGACCTTCTCCTGGTATC	0.537		NaN											0	0	0	0.002096	0	33	64				
C5orf41	153222	broad.mit.edu	37	5	172518250	172518250	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:172518250A>T	uc003mch.2	+	4	1372	c.1068A>T	c.(1066-1068)GAA>GAT	p.E356D	C5orf41_uc003mcg.2_Missense_Mutation_p.E356D|C5orf41_uc003mcf.2_Missense_Mutation_p.E356D|C5orf41_uc011dfd.1_Missense_Mutation_p.E356D	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	luman-recruiting factor	356	Glu-rich.						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCCtgaagaagatgaggagg	0.194		NaN											0	0	0	0.008291	0	9	24				
C5orf25	375484	broad.mit.edu	37	5	175717546	175717546	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:175717546G>A	uc003mds.3	+	4	1369	c.962G>A	c.(961-963)GGA>GAA	p.G321E	C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.G340E|uc003mdu.1_Missense_Mutation_p.G232E			Q8NDZ2	CE025_HUMAN	RecName: Full=Uncharacterized protein C5orf25;	321	Pro-rich.										0	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		CACTTACCGGGAGATGTGTTA	0.547		NaN											0	0	0	0.001855	0	8	183				
OR2J3	442186	broad.mit.edu	37	6	29080151	29080151	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:29080151C>A	uc011dll.1	+	1	484	c.484C>A	c.(484-486)CAT>AAT	p.H162N		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	162	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						CTCAGCACTTCATTCCTCCTT	0.488		NaN											1	0	2.40789e-81	0.00361	3.30237e-81	158	143				
RPL10A	4736	broad.mit.edu	37	6	35438423	35438423	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:35438423C>T	uc003okp.1	+	6	584	c.550C>T	c.(550-552)CAC>TAC	p.H184Y	RPL10A_uc003okq.1_Missense_Mutation_p.H100Y|RPL10A_uc003okr.1_Missense_Mutation_p.H100Y|RPL10A_uc003oks.1_Missense_Mutation_p.H100Y	NM_007104	NP_009035	P62906	RL10A_HUMAN	ribosomal protein L10a	184					anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome			ovary(1)	1						GTATAACATTCACCTGGCTGT	0.493		NaN											0	0	0	0.003214	0	45	50				
DNAH8	1769	broad.mit.edu	37	6	38942237	38942237	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:38942237G>C	uc003ooe.1	+	83	12715	c.12115G>C	c.(12115-12117)GAC>CAC	p.D4039H	DNAH8_uc003oog.1_Missense_Mutation_p.D488H	NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						AGACCTTCTGGACATCAGTAA	0.423		NaN											0	0	0	0.002445	0	32	78				
KIF6	221458	broad.mit.edu	37	6	39507798	39507798	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:39507798A>T	uc003oot.2	-	13	1721	c.1626T>A	c.(1624-1626)AGT>AGA	p.S542R	KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.S333R|KIF6_uc011dua.1_Missense_Mutation_p.S542R|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	542					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						TGTGGAGCAAACTGGATCTTT	0.443		NaN											0	0	0	0.00361	0	123	117				
LMBRD1	55788	broad.mit.edu	37	6	70386122	70386122	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:70386122C>T	uc003pfa.2	-	16	1666	c.1551G>A	c.(1549-1551)AAG>AAA	p.K517K	LMBRD1_uc003pey.2_Silent_p.K313K|LMBRD1_uc003pez.2_Silent_p.K444K|LMBRD1_uc010kal.2_Silent_p.K444K|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	517	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1						TAACCGATTTCTTCCCTTTAC	0.313		NaN											0	0	0	0.001855	0	11	31				
OR2A4	79541	broad.mit.edu	37	6	132021851	132021851	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:132021851C>T	uc011ecd.1	-	1	691	c.691G>A	c.(691-693)GAA>AAA	p.E231K	ENPP3_uc003qcu.3_Intron|ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Intron	NM_030908	NP_112170	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A,	231	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		CTCTGAACTTCCCTTGATTGG	0.493		NaN											0	0	0	0.002522	0	35	82				
ECT2L	345930	broad.mit.edu	37	6	139164270	139164270	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:139164270C>T	uc003qif.1	+	4	600	c.497C>T	c.(496-498)ACG>ATG	p.T166M	ECT2L_uc011edq.1_Missense_Mutation_p.T97M	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2	166					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity				0						ACTTATGGGACGCTGAATGAA	0.458		NaN											0	0	0	0.006999	0	40	52				
C6orf97	80129	broad.mit.edu	37	6	151857488	151857488	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:151857488G>T	uc003qol.2	+	2	182	c.93G>T	c.(91-93)ACG>ACT	p.T31T		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	31	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)		TCCCGGTCACGCGGGAGCAGT	0.428		NaN											1	0	7.92952e-12	0.003954	1.01098e-11	23	34				
LPA	4018	broad.mit.edu	37	6	160953592	160953592	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:160953592G>C	uc003qtl.2	-	39	6052	c.5932C>G	c.(5932-5934)CAT>GAT	p.H1978D		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4486	Peptidase S1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGGCCAAATGCTCAGCACAA	0.458		NaN											0	0	0	0.001523	0	22	43				
TNRC18	84629	broad.mit.edu	37	7	5354756	5354756	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:5354756G>C	uc003soi.3	-	26	7235	c.6886C>G	c.(6886-6888)CTG>GTG	p.L2296V		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2296							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTGGCACCAGAAGGGCCGGG	0.667		NaN											0	0	0	0.006214	0	8	19				
ARL4A	10124	broad.mit.edu	37	7	12728009	12728009	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:12728009G>C	uc003ssp.2	+	2	407	c.130G>C	c.(130-132)GAA>CAA	p.E44Q	ARL4A_uc003ssq.2_Missense_Mutation_p.E44Q|ARL4A_uc003ssr.2_Missense_Mutation_p.E44Q|ARL4A_uc003sss.2_Missense_Mutation_p.E44Q	NM_001037164	NP_001032241	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	44					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GCAGTTCAATGAATTTGTAAA	0.393		NaN											0	0	0	0.008871	0	16	51				
FERD3L	222894	broad.mit.edu	37	7	19184952	19184952	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:19184952T>C	uc003suo.1	-	1	93	c.34A>G	c.(34-36)ACG>GCG	p.T12A	uc003sun.1_RNA	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	nephew of atonal 3	12					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(1)	1						TCCAGCACCGTAGTGTCCACG	0.672		NaN											0	0	0	0.00245	0	13	33				
GPNMB	10457	broad.mit.edu	37	7	23296615	23296615	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:23296615G>A	uc003swc.2	+	4	633	c.472G>A	c.(472-474)GAT>AAT	p.D158N	GPNMB_uc003swa.2_Missense_Mutation_p.D158N|GPNMB_uc003swb.2_Missense_Mutation_p.D158N|GPNMB_uc011jyy.1_Intron|GPNMB_uc011jyz.1_Missense_Mutation_p.D59N	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a	158	Extracellular (Potential).				negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			CGTCTTCCCTGATGGGAAACC	0.483		NaN											0	0	0	0.002836	0	33	123				
GPNMB	10457	broad.mit.edu	37	7	23313138	23313138	+	Splice_Site	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:23313138A>G	uc003swc.2	+	10	1627	c.1466_splice	c.e10-2	p.D489_splice	GPNMB_uc003swb.2_Splice_Site_p.D477_splice|GPNMB_uc011jyy.1_Splice_Site_p.D431_splice|GPNMB_uc011jyz.1_Splice_Site_p.D378_splice	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb isoform a						negative regulation of cell proliferation	melanosome				ovary(3)|breast(2)	5			GBM - Glioblastoma multiforme(13;0.154)			TTCTGTTTTAAGACCCAGCCT	0.463		NaN									OREG0017893	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.002222	0	41	86				
TRA2A	29896	broad.mit.edu	37	7	23547040	23547040	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:23547040G>A	uc003swi.2	-	5	854	c.640C>T	c.(640-642)CAT>TAT	p.H214Y	TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.H113Y|TRA2A_uc011jzd.1_Missense_Mutation_p.H113Y	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	transformer-2 alpha	214	Linker.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			ovary(1)	1						AACTCTTACTGAGTTGGTCTG	0.378		NaN											0	0	0	0.00361	0	68	169				
HOXA11	3207	broad.mit.edu	37	7	27222475	27222475	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:27222475C>T	uc003syx.2	-	2	954	c.882G>A	c.(880-882)ATG>ATA	p.M294I	HOXA10_uc003syw.3_5'Flank|HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	homeobox A11	294	Homeobox.				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)	2						TTTTTTCCTTCATTCTCCTGT	0.458		NaN	T	NUP98	CML								0	0	0	0.002836	0	32	90				
C7orf41	222166	broad.mit.edu	37	7	30197062	30197062	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:30197062G>A	uc011kab.1	+	3	495	c.294G>A	c.(292-294)GGG>GGA	p.G98G	C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Silent_p.G98G	NM_152793	NP_690006	Q8N3F0	CG041_HUMAN	hypothetical protein LOC222166	98											0						AGTTACTGGGGCTTCCGGATG	0.552		NaN											0	0	0	0.00361	0	70	216				
ELMO1	9844	broad.mit.edu	37	7	37272761	37272761	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:37272761A>T	uc003tfk.1	-	8	795	c.488T>A	c.(487-489)GTT>GAT	p.V163D	ELMO1_uc011kbc.1_Missense_Mutation_p.V67D|ELMO1_uc010kxg.1_Missense_Mutation_p.V163D	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	163					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						CATCAGCTCAACGAAGGCCGT	0.498		NaN											0	0	0	0.00333	0	22	46				
PSMA2	5683	broad.mit.edu	37	7	42964312	42964312	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:42964312C>T	uc003thy.2	-	4	384	c.336G>A	c.(334-336)CAG>CAA	p.Q112Q	C7orf25_uc010kxr.2_5'UTR|PSMA2_uc010kxt.2_Silent_p.Q34Q|PSMA2_uc003thz.1_Silent_p.Q34Q	NM_002787	NP_002778	P25787	PSA2_HUMAN	proteasome subunit alpha type 2	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			large_intestine(2)|ovary(1)	3						AAGCTACTCTCTGTACCAGCT	0.393		NaN											0	0	0	0.00623	0	39	95				
WBSCR22	114049	broad.mit.edu	37	7	73112020	73112020	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:73112020G>A	uc003tyt.2	+	11	845	c.787G>A	c.(787-789)GGC>AGC	p.G263S	WBSCR22_uc003tyu.2_Missense_Mutation_p.G280S|WBSCR22_uc003tyv.2_Missense_Mutation_p.G225S|WBSCR22_uc003tyw.1_Missense_Mutation_p.G126S	NM_017528	NP_059998	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	263						nucleus	methyltransferase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)				CAGGCGCCAGGGCAGGTGAGT	0.607		NaN											0	0	0	0.003163	0	16	39				
CLDN12	9069	broad.mit.edu	37	7	90042400	90042400	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:90042400G>A	uc003ukp.2	+	5	1046	c.410G>A	c.(409-411)GGG>GAG	p.G137E	CLDN12_uc003ukq.2_Missense_Mutation_p.G137E|CLDN12_uc010leq.2_Missense_Mutation_p.G137E|CLDN12_uc003ukr.2_Missense_Mutation_p.G137E|CLDN12_uc003uks.2_Missense_Mutation_p.G137E	NM_012129	NP_036261	P56749	CLD12_HUMAN	claudin 12	137	Helical; (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0						CTGGTGGCTGGGCTGCTATTT	0.498		NaN											0	0	0	0.004878	0	38	129				
FZD1	8321	broad.mit.edu	37	7	90895380	90895380	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:90895380G>A	uc003ula.2	+	1	1598	c.1185G>A	c.(1183-1185)CAG>CAA	p.Q395Q		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	395	Extracellular (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGTGGCGCAGGGCACCAAGA	0.612		NaN											0	0	0	0.002096	0	33	91				
AKAP9	10142	broad.mit.edu	37	7	91694694	91694694	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:91694694G>C	uc003ulg.2	+	25	6352	c.6127G>C	c.(6127-6129)GAA>CAA	p.E2043Q	AKAP9_uc003ulf.2_Missense_Mutation_p.E2043Q|AKAP9_uc003uli.2_Missense_Mutation_p.E1666Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2055	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTGGAACAAGAAAAAAATAC	0.323		NaN	T	BRAF	papillary thyroid								0	0	0	0.00245	0	14	51				
AKAP9	10142	broad.mit.edu	37	7	91695741	91695741	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:91695741G>A	uc003ulg.2	+	26	6436	c.6211G>A	c.(6211-6213)GAG>AAG	p.E2071K	AKAP9_uc003ulf.2_Missense_Mutation_p.E2071K|AKAP9_uc003uli.2_Missense_Mutation_p.E1694K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	2083	Potential.|Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAAACTTTAGGAGCAAGCCAT	0.348		NaN	T	BRAF	papillary thyroid								0	0	0	0.006122	0	19	61				
ANKIB1	54467	broad.mit.edu	37	7	91981884	91981884	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:91981884G>T	uc003ulw.2	+	9	1701	c.1325G>T	c.(1324-1326)GGA>GTA	p.G442V		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	442	IBR-type; degenerate.						protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATACATCTGGATCTGATACA	0.443		NaN											1	0	3.1376e-36	0.00361	4.24339e-36	88	229				
ANKIB1	54467	broad.mit.edu	37	7	92027739	92027739	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:92027739T>G	uc003ulw.2	+	20	3122	c.2746T>G	c.(2746-2748)TTG>GTG	p.L916V	ANKIB1_uc010lew.1_Missense_Mutation_p.L185V	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	916							protein binding|zinc ion binding			lung(1)	1	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCTGAGCTTTTGGAACTTGG	0.507		NaN											0	0	0	0.003163	0	16	23				
PEX1	5189	broad.mit.edu	37	7	92143223	92143223	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:92143223G>A	uc003uly.2	-	6	1394	c.1298C>T	c.(1297-1299)ACT>ATT	p.T433I	PEX1_uc011khr.1_Missense_Mutation_p.T225I|PEX1_uc010ley.2_Missense_Mutation_p.T433I|PEX1_uc011khs.1_Missense_Mutation_p.T111I|PEX1_uc011kht.1_RNA	NM_000466	NP_000457	O43933	PEX1_HUMAN	peroxin1	433					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			ovary(1)|central_nervous_system(1)	2	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTCCACTGGAGTTATCCTGAC	0.299		NaN											0	0	0	0.00361	0	52	122				
MUC17	140453	broad.mit.edu	37	7	100678716	100678716	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:100678716C>G	uc003uxp.1	+	3	4072	c.4019C>G	c.(4018-4020)ACA>AGA	p.T1340R	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1340	Extracellular (Potential).|20.|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)					ACTCCTTTAACAAGTATACCT	0.463		NaN											0	0	0	0.00361	0	115	307				
RINT1	60561	broad.mit.edu	37	7	105189056	105189056	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:105189056T>A	uc003vda.1	+	7	1126	c.895T>A	c.(895-897)TCC>ACC	p.S299T	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	299	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4						TCTTCCTGCCTCCCCTTCTGT	0.433		NaN											0	0	0	0.00361	0	68	154				
PIK3CG	5294	broad.mit.edu	37	7	106508023	106508023	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:106508023A>G	uc003vdv.3	+	2	102	c.17A>G	c.(16-18)TAT>TGT	p.Y6C	PIK3CG_uc003vdu.2_Missense_Mutation_p.Y6C|PIK3CG_uc003vdw.2_Missense_Mutation_p.Y6C	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	6					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						CTGGAGAACTATAAACAGCCC	0.582		NaN											0	0	0	0.004656	0	24	72				
LRRN3	54674	broad.mit.edu	37	7	110763553	110763553	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:110763553C>G	uc003vft.3	+	4	1771	c.725C>G	c.(724-726)TCT>TGT	p.S242C	IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.S242C|LRRN3_uc003vfs.3_Missense_Mutation_p.S242C	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3 precursor	242	Extracellular (Potential).|LRR 8.					integral to membrane				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GAAAGCATCTCTTTTTACGAT	0.343		NaN											0	0	0	0.007291	0	26	61				
ING3	54556	broad.mit.edu	37	7	120610799	120610799	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:120610799A>T	uc003vjn.2	+	10	1100	c.966A>T	c.(964-966)TTA>TTT	p.L322F	ING3_uc003vjo.2_Missense_Mutation_p.L96F|ING3_uc003vjp.2_Missense_Mutation_p.L322F|ING3_uc011kns.1_Missense_Mutation_p.L307F	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3 isoform 1	322	Poly-Ser.				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			ovary(1)	1	all_neural(327;0.117)					CTTCTTCCTTATCATCGTGTT	0.378		NaN											0	0	0	0.007413	0	17	45				
SVOPL	136306	broad.mit.edu	37	7	138312175	138312175	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:138312175G>A	uc011kqh.1	-	11	1101	c.1101C>T	c.(1099-1101)TTC>TTT	p.F367F	SVOPL_uc003vue.2_Silent_p.F215F	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	SVOP-like isoform 1	367	Helical; (Potential).					integral to membrane	transmembrane transporter activity				0						GTCTTCCCAGGAAATTGATGC	0.403		NaN											0	0	0	0.001984	0	6	23				
WEE2	494551	broad.mit.edu	37	7	141427156	141427156	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:141427156G>A	uc003vwn.2	+	10	1851	c.1445G>A	c.(1444-1446)AGA>AAA	p.R482K	FLJ40852_uc011krh.1_RNA|FLJ40852_uc010lnm.2_RNA|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	WEE1 homolog 2	482	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			ovary(1)|stomach(1)	2	Melanoma(164;0.0171)					GCTCTGGCCAGAAATACAGTT	0.458		NaN											0	0	0	0.00361	0	57	174				
OR2A12	346525	broad.mit.edu	37	7	143793100	143793100	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:143793100A>G	uc011kty.1	+	1	900	c.900A>G	c.(898-900)CTA>CTG	p.L300L		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A,	300	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3	Melanoma(164;0.0783)					AAGGGGCTCTAAAGAGAGTCC	0.453		NaN											0	0	0	0.00361	0	83	268				
MLL3	58508	broad.mit.edu	37	7	151864230	151864230	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:151864230C>T	uc003wla.2	-	42	9969	c.9750_splice	c.e42+1	p.Q3250_splice	MLL3_uc003wkz.2_Splice_Site_p.Q2311_splice|MLL3_uc003wky.2_Splice_Site_p.Q759_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3						intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CTATTTATTACCTGTTCTAGC	0.368		NaN	N		medulloblastoma								0	0	0	0.00499	0	18	57		Valid		
PAXIP1	22976	broad.mit.edu	37	7	154739621	154739621	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:154739621G>T	uc003wlp.2	-	17	2957	c.2914C>A	c.(2914-2916)CTC>ATC	p.L972I	LOC100132707_uc003wlo.2_RNA|PAXIP1_uc003wlq.1_Missense_Mutation_p.L938I|PAXIP1_uc011kvs.1_Missense_Mutation_p.L936I	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	PAX interacting protein 1	972	Interaction with TP53BP1.|BRCT 6.				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ACCTTAAAGAGTGGAGAAACG	0.448		NaN											1	0	5.10508e-28	0.00361	6.88038e-28	61	194				
NOM1	64434	broad.mit.edu	37	7	156745289	156745289	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:156745289A>G	uc003wmy.2	+	2	1124	c.1109A>G	c.(1108-1110)AAC>AGC	p.N370S		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	370	MIF4G.				RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGTCTACTTAACAGGTGACCT	0.413		NaN											0	0	0	0.000978	0	12	34				
DLC1	10395	broad.mit.edu	37	8	13357474	13357474	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:13357474A>G	uc003wwm.2	-	2	551	c.107T>C	c.(106-108)GTA>GCA	p.V36A	DLC1_uc003wwn.2_Missense_Mutation_p.V36A|DLC1_uc011kxy.1_Missense_Mutation_p.V36A	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	36					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						GCTGTCAGCTACTAGTCCATG	0.453		NaN											0	0	0	0.00361	0	97	164				
PSD3	23362	broad.mit.edu	37	8	18662314	18662314	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:18662314C>A	uc003wza.2	-	5	1832	c.1729G>T	c.(1729-1731)GGT>TGT	p.G577C	PSD3_uc003wyy.2_Missense_Mutation_p.G43C|PSD3_uc003wyz.2_5'UTR	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	577	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGCTGGTACCATTACTGAGA	0.448		NaN											1	0	1.77355e-41	0.00361	2.40697e-41	75	284				
SH2D4A	63898	broad.mit.edu	37	8	19190582	19190582	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:19190582G>A	uc003wzb.2	+	3	634	c.298G>A	c.(298-300)GAG>AAG	p.E100K	SH2D4A_uc011kym.1_Missense_Mutation_p.E55K|SH2D4A_uc003wzc.2_Missense_Mutation_p.E100K	NM_022071	NP_071354	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	100						cytoplasm|nucleus	protein binding				0				Colorectal(111;0.0732)		AATTATTGCTGAGAGGGCCCG	0.458		NaN											0	0	0	0.001786	0	31	103				
PDLIM2	64236	broad.mit.edu	37	8	22442884	22442884	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:22442884C>G	uc003xby.2	+	6	912	c.512C>G	c.(511-513)TCC>TGC	p.S171C	PDLIM2_uc003xbx.1_Missense_Mutation_p.S171C|PDLIM2_uc003xbz.2_Missense_Mutation_p.S171C|PDLIM2_uc003xca.2_Missense_Mutation_p.S171C|PDLIM2_uc003xcb.2_Missense_Mutation_p.S171C|PDLIM2_uc003xcc.1_Missense_Mutation_p.S171C	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 isoform 2	171						actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding				0		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GACCGCCTGTCCTACTCAGGC	0.672		NaN											0	0	0	0.001168	0	5	30				
TNFRSF10A	8797	broad.mit.edu	37	8	23056919	23056919	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:23056919C>T	uc003xda.2	-	8	939	c.874G>A	c.(874-876)GAG>AAG	p.E292K		NM_003844	NP_003835	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily,	292	Cytoplasmic (Potential).				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			central_nervous_system(3)|ovary(2)|skin(1)	6		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GCATTGTCCTCAGCCCCAGGC	0.587		NaN											0	0	0	0.007835	0	39	58				
CHMP7	91782	broad.mit.edu	37	8	23112797	23112797	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:23112797C>T	uc003xdc.2	+	4	1157	c.509C>T	c.(508-510)TCG>TTG	p.S170L	CHMP7_uc011kzs.1_RNA|CHMP7_uc003xdd.2_Missense_Mutation_p.S60L|CHMP7_uc003xde.2_Missense_Mutation_p.S28L	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN	CHMP family, member 7	170					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity				0		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TATCAGAACTCGCCCCTCTCC	0.592		NaN											0	0	0	0.004007	0	16	53				
NEFM	4741	broad.mit.edu	37	8	24775841	24775841	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:24775841G>A	uc003xed.3	+	3	2506	c.2473G>A	c.(2473-2475)GAG>AAG	p.E825K	NEFM_uc011lac.1_Missense_Mutation_p.E607K|NEFM_uc010lue.2_Missense_Mutation_p.E449K	NM_005382	NP_005373	P07197	NFM_HUMAN	neurofilament, medium polypeptide 150kDa isoform	825	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(1)	1		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		tgggagggaagaggagaaagG	0.229		NaN											0	0	0	0.002299	0	22	21				
EPHX2	2053	broad.mit.edu	37	8	27361273	27361273	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:27361273G>T	uc003xfu.2	+	3	420	c.339G>T	c.(337-339)AGG>AGT	p.R113S	EPHX2_uc010lut.1_Missense_Mutation_p.R113S|EPHX2_uc010luu.2_Missense_Mutation_p.R113S|EPHX2_uc010luv.2_Missense_Mutation_p.R47S|EPHX2_uc003xfv.2_Missense_Mutation_p.R60S|EPHX2_uc010luw.2_Missense_Mutation_p.R47S|EPHX2_uc011lam.1_5'Flank	NM_001979	NP_001970	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	113	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			ovary(1)	1		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TCATGCTCAGGAAGAAAGGTA	0.493		NaN											1	0	2.64397e-27	0.005443	3.55726e-27	23	97				
C8orf41	80185	broad.mit.edu	37	8	33370001	33370001	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:33370001C>T	uc003xjl.3	-	1	656	c.131G>A	c.(130-132)CGA>CAA	p.R44Q	C8orf41_uc003xjk.3_Missense_Mutation_p.R44Q|C8orf41_uc010lvv.2_Missense_Mutation_p.R44Q|C8orf41_uc003xjm.3_Missense_Mutation_p.R44Q|C8orf41_uc003xjn.1_Missense_Mutation_p.R44Q	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN	hypothetical protein LOC80185	44							binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)		TACATTGCCTCGTCGTGCCTC	0.507		NaN											0	0	0	0.004289	0	32	151				
ADAM2	2515	broad.mit.edu	37	8	39645638	39645638	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:39645638C>A	uc003xnj.2	-	9	850	c.775G>T	c.(775-777)GTT>TTT	p.V259F	ADAM2_uc003xnk.2_Missense_Mutation_p.V240F|ADAM2_uc011lck.1_Missense_Mutation_p.V259F|ADAM2_uc003xnl.2_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2 proprotein	259	Extracellular (Potential).|Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGACGTAAAACAAGATAAGAT	0.308		NaN											1	0	1.96292e-10	0.001523	2.48637e-10	22	95				
RB1CC1	9821	broad.mit.edu	37	8	53568671	53568671	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:53568671C>T	uc003xre.3	-	15	4276	c.3718G>A	c.(3718-3720)GAA>AAA	p.E1240K	RB1CC1_uc003xrf.3_Missense_Mutation_p.E1240K	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Rb1-inducible coiled coil protein 1 isoform 1	1240	Potential.				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TGAATAGCTTCATCTTTTTCA	0.343		NaN											0	0	0	0.00361	0	80	104				
PENK	5179	broad.mit.edu	37	8	57353869	57353869	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:57353869C>T	uc003xsz.2	-	2	847	c.766G>A	c.(766-768)GAA>AAA	p.E256K	PENK_uc003xta.3_Missense_Mutation_p.E256K	NM_006211	NP_006202	P01210	PENK_HUMAN	proenkephalin	256					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			ovary(2)|central_nervous_system(1)|skin(1)	4		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTTTCCATTTCAGGAACTTCT	0.502		NaN											0	0	0	0.00361	0	105	175				
TOX	9760	broad.mit.edu	37	8	59728257	59728257	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:59728257C>G	uc003xtw.1	-	7	1253	c.1032G>C	c.(1030-1032)AAG>AAC	p.K344N		NM_014729	NP_055544	O94900	TOX_HUMAN	thymus high mobility group box protein TOX	344						nucleus	DNA binding			kidney(2)|lung(1)|skin(1)	4		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GTTGAGATGTCTTCACGTCAA	0.507		NaN											0	0	0	0.00632	0	27	74				
ZFHX4	79776	broad.mit.edu	37	8	77618118	77618118	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:77618118G>T	uc003yav.2	+	2	2182	c.1795G>T	c.(1795-1797)GGC>TGC	p.G599C	ZFHX4_uc003yat.1_Missense_Mutation_p.G599C|ZFHX4_uc003yau.1_Missense_Mutation_p.G599C|ZFHX4_uc003yaw.1_Missense_Mutation_p.G599C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	599						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGTACTCCTGGCACACCAGG	0.572		NaN								HNSCC(33;0.089)			1	0	1.4374e-25	0.00361	1.92064e-25	49	66				
CHMP4C	92421	broad.mit.edu	37	8	82670747	82670747	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:82670747G>A	uc003ycl.2	+	5	844	c.670G>A	c.(670-672)GAT>AAT	p.D224N		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	chromatin modifying protein 4C	224	Intramolecular interaction with N- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			ovary(2)	2						AGAGGATGATGATATCAAACA	0.318		NaN											0	0	0	0.001882	0	20	98				
NBN	4683	broad.mit.edu	37	8	90995014	90995014	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:90995014T>G	uc003yej.1	-	2	217	c.107A>C	c.(106-108)GAA>GCA	p.E36A	NBN_uc003yei.1_5'UTR|NBN_uc011lgb.1_Missense_Mutation_p.E36A	NM_002485	NP_002476	O60934	NBN_HUMAN	nibrin	36	FHA.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTGATCATTTTCAATCAGAAT	0.343		NaN						Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				0	0	0	0.003755	0	35	116				
RGS22	26166	broad.mit.edu	37	8	101076156	101076156	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:101076156T>C	uc003yjb.1	-	8	1035	c.840A>G	c.(838-840)GTA>GTG	p.V280V	RGS22_uc003yja.1_Silent_p.V99V|RGS22_uc003yjc.1_Silent_p.V268V|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	280					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTGTAGAGATACAGACACCt	0.338		NaN											0	0	0	0.001855	0	14	248				
PKHD1L1	93035	broad.mit.edu	37	8	110460573	110460573	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:110460573T>C	uc003yne.2	+	39	6082	c.5978T>C	c.(5977-5979)GTT>GCT	p.V1993A		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	1993	Extracellular (Potential).|IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGTCCACAGTTGTATTTGAG	0.408		NaN								HNSCC(38;0.096)			0	0	0	0.001984	0	7	46				
NDUFB9	4715	broad.mit.edu	37	8	125555358	125555358	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:125555358G>A	uc003yrg.3	+	2	217	c.132G>A	c.(130-132)ATG>ATA	p.M44I	NDUFB9_uc011lim.1_Missense_Mutation_p.M44I	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta	44					mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			ovary(1)|skin(1)	2	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)		NADH(DB00157)	CTTGTTTGATGAGAGCCCGGT	0.448		NaN											0	0	0	0.003163	0	14	80				
DENND3	22898	broad.mit.edu	37	8	142148141	142148141	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:142148141G>A	uc003yvy.2	+	3	444	c.166G>A	c.(166-168)GAA>AAA	p.E56K	DENND3_uc003yvw.1_Missense_Mutation_p.E69K|DENND3_uc003yvx.2_Missense_Mutation_p.E136K|DENND3_uc010mep.2_Missense_Mutation_p.E69K	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	56	UDENN.									ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTGGCCACTGAACCTAAGGA	0.572		NaN											0	0	0	0.001168	0	5	19				
RHPN1	114822	broad.mit.edu	37	8	144462009	144462009	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:144462009A>G	uc003yyb.2	+	9	1089	c.956A>G	c.(955-957)GAG>GGG	p.E319G		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	rhophilin 1	319	BRO1.				signal transduction	intracellular				large_intestine(1)	1	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GTGGCAGCCGAGTACAGGCTA	0.667		NaN											0	0	0	0.004482	0	8	27				
EEF1D	1936	broad.mit.edu	37	8	144668447	144668447	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:144668447C>T	uc011lki.1	-	3	400	c.131G>A	c.(130-132)AGC>AAC	p.S44N	EEF1D_uc003yyp.1_Intron|EEF1D_uc003yyq.1_Missense_Mutation_p.S460N|EEF1D_uc011lkj.1_Missense_Mutation_p.S409N|EEF1D_uc003yyr.2_Missense_Mutation_p.S410N|EEF1D_uc003yyt.2_Missense_Mutation_p.S410N|EEF1D_uc011lkk.1_Missense_Mutation_p.S44N|EEF1D_uc003yys.2_Missense_Mutation_p.S44N|EEF1D_uc003yyv.2_Intron|EEF1D_uc003yyu.2_Missense_Mutation_p.S44N|EEF1D_uc011lkl.1_Missense_Mutation_p.S44N	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta	44				S -> T (in Ref. 1; CAA79716).	positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			ovary(1)|kidney(1)|skin(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GAGGATCACGCTGGCGCCGTT	0.493		NaN											0	0	0	0.00245	0	13	18				
TIGD5	84948	broad.mit.edu	37	8	144680461	144680461	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:144680461G>A	uc003yyx.1	+	1	241	c.241G>A	c.(241-243)GCC>ACC	p.A81T	EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	130					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGCCGTGTACGCCTGGTTCCT	0.701		NaN											0	0	0	0.00499	0	14	19				
NFKBIL2	4796	broad.mit.edu	37	8	145660258	145660258	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:145660258C>T	uc011llg.1	-	20	3036	c.3021G>A	c.(3019-3021)GTG>GTA	p.V1007V	uc011llh.1_5'Flank	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	NF-kappa-B inhibitor-like protein 2	1007					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity				0	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCCACGAAGTCACCTCAGCCA	0.667		NaN											0	0	0	0.001368	0	12	60				
KIFC2	90990	broad.mit.edu	37	8	145697774	145697774	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:145697774C>T	uc003zcz.2	+	15	1703	c.1638C>T	c.(1636-1638)CGC>CGT	p.R546R	KIFC2_uc003zda.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	546	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTCCCGAGCGCCTGGCCGTGA	0.662		NaN											0	0	0	0.00499	0	18	42				
RECQL4	9401	broad.mit.edu	37	8	145738372	145738372	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:145738372C>T	uc003zdj.2	-	16	2645	c.2613G>A	c.(2611-2613)GAG>GAA	p.E871E		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	871					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCACAGGCCTCTCCCCACCCA	0.667		NaN	N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				0	0	0	0.000602	0	5	7				
KIAA2026	158358	broad.mit.edu	37	9	6007547	6007547	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:6007547G>A	uc003zjq.3	-	1	457	c.241C>T	c.(241-243)CAG>TAG	p.Q81*		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	hypothetical protein LOC158358	81										ovary(2)|central_nervous_system(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CGGTAGCCCTGCTGTAGCTCG	0.662		NaN											0	0	0	0.002222	0	41	28				
CDKN2A	1029	broad.mit.edu	37	9	21971209	21971209	+	Splice_Site	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:21971209T>A	uc003zpk.2	-	2	363	c.151_splice	c.e2-1	p.V51_splice	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Splice_Site|CDKN2A_uc010miu.2_Splice_Site|CDKN2A_uc003zpl.2_Splice_Site_p.G106_splice	NM_000077	NP_000068	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A isoform 1						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	p.0?(1112)|p.?(19)|p.V28_V51del(1)		haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CATCATGACCTGCCAGAGAGA	0.667		17							Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			0	0	0	0.00245	0	12	12		Valid		
DCAF12	25853	broad.mit.edu	37	9	34125208	34125208	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:34125208T>A	uc003ztt.2	-	2	488	c.146A>T	c.(145-147)TAC>TTC	p.Y49F		NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	49						centrosome|CUL4 RING ubiquitin ligase complex					0						GTTCTTCAAGTAGTATACTAA	0.463		NaN											0	0	0	0.00361	0	49	47				
GNE	10020	broad.mit.edu	37	9	36276896	36276896	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:36276896G>A	uc010mli.2	-	1	146	c.46C>T	c.(46-48)CCT>TCT	p.P16S	CLTA_uc003zzf.1_Intron|GNE_uc010mlj.2_Silent_p.D48D	NM_001128227	NP_001121699	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	Error:Variant_position_missing_in_Q9Y223_after_alignment					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			CTTACATGAGGTCCTTGAAAG	0.408		NaN											0	0	0	0.00361	0	78	78				
SHB	6461	broad.mit.edu	37	9	38016031	38016031	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:38016031T>C	uc004aax.2	-	2	1383	c.815A>G	c.(814-816)TAT>TGT	p.Y272C		NM_003028	NP_003019	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein	272	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|skin(1)	3		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CTGTGCCTCATAGGGCTCCAT	0.557		NaN											0	0	0	0.00361	0	164	143				
C9orf3	84909	broad.mit.edu	37	9	97522147	97522147	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:97522147C>A	uc004ava.2	+	1	217	c.82C>A	c.(82-84)CTG>ATG	p.L28M	C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.L28M|C9orf3_uc004auy.2_Missense_Mutation_p.L28M|C9orf3_uc004auz.1_Missense_Mutation_p.L28M	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN	aminopeptidase O	28					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCACTATGTACTGGATTTGGA	0.443		NaN											1	0	6.32553e-13	0.004656	8.10459e-13	28	62				
EPB41L4B	54566	broad.mit.edu	37	9	112018495	112018495	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:112018495C>T	uc004bdz.1	-	9	1145	c.850G>A	c.(850-852)GGC>AGC	p.G284S	EPB41L4B_uc004bea.2_Missense_Mutation_p.G284S	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	284	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			ovary(1)|central_nervous_system(1)|skin(1)	3						TATTCACAGCCATCTCTTCCC	0.393		NaN											0	0	0	0.00361	0	79	51				
CEP110	11064	broad.mit.edu	37	9	123852674	123852674	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:123852674G>A	uc004bkx.1	+	2	370	c.339G>A	c.(337-339)AAG>AAA	p.K113K	CEP110_uc004bkw.2_Silent_p.K113K	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	113					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						ACGGTGGCAAGAAATTTAAGG	0.313		NaN											0	0	0	0.00361	0	53	45				
C9orf96	169436	broad.mit.edu	37	9	136269137	136269137	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:136269137C>T	uc004cdk.2	+	16	1758	c.1697C>T	c.(1696-1698)GCC>GTC	p.A566V	C9orf96_uc004cdl.2_RNA	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	hypothetical protein LOC169436	566							ATP binding|protein kinase activity			stomach(2)|central_nervous_system(2)	4				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTGAACAATGCCTACCGGGGA	0.612		NaN									OREG0019586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	0	0	0	0.00361	0	46	38				
ACOT9	23597	broad.mit.edu	37	X	23748661	23748661	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:23748661T>A	uc004dap.2	-	5	502	c.356A>T	c.(355-357)GAT>GTT	p.D119V	ACOT9_uc004dao.2_Missense_Mutation_p.D128V|ACOT9_uc004daq.2_Missense_Mutation_p.D77V|ACOT9_uc004dar.2_Missense_Mutation_p.D59V|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Missense_Mutation_p.D59V|ACOT9_uc004dat.1_Missense_Mutation_p.D119V	NM_001033583	NP_001028755	Q9Y305	ACOT9_HUMAN	acyl-Coenzyme A thioesterase 2, mitochondrial	119					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(2)|pancreas(1)	3						GCTGTCAAGATCCTCAAGAAT	0.328		NaN											0	0	0	0.00361	0	55	42				
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:44922802C>T	uc004dge.3	+	16	2038	c.1663C>T	c.(1663-1665)CAG>TAG	p.Q555*	KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194*	NM_021140	NP_066963	O15550	KDM6A_HUMAN	ubiquitously transcribed tetratricopeptide	555					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						TAGCGTCTCTCAGCCTGGAGT	0.567		NaN	D|N|F|S		renal|oesophageal SCC|MM								0	0	0	0.004007	0	15	20		Valid		
ATRX	546	broad.mit.edu	37	X	76919036	76919036	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:76919036G>C	uc004ecp.3	-	12	4187	c.3955C>G	c.(3955-3957)CAA>GAA	p.Q1319E	ATRX_uc004ecq.3_Missense_Mutation_p.Q1281E|ATRX_uc004eco.3_Missense_Mutation_p.Q1104E|ATRX_uc004ecr.2_Missense_Mutation_p.Q1251E	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1319					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)	GAATTGACTTGATTTTTTGCT	0.358		NaN	Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						0	0	0	0.00245	0	14	11				
MID2	11043	broad.mit.edu	37	X	107169341	107169341	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:107169341G>A	uc004enl.2	+	9	2188	c.1615G>A	c.(1615-1617)GAT>AAT	p.D539N	MID2_uc004enk.2_Missense_Mutation_p.D509N	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	midline 2 isoform 1	539	B30.2/SPRY.					centrosome|microtubule	ligase activity|zinc ion binding			ovary(1)	1						CTTTAAATTGGATCCCAAAAT	0.378		NaN											0	0	0	0.004289	0	37	34				
ZCCHC12	170261	broad.mit.edu	37	X	117959285	117959285	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:117959285G>A	uc004equ.2	+	4	551	c.78G>A	c.(76-78)CTG>CTA	p.L26L		NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			ovary(1)	1						ATTCCATGCTGAGGTCCCTGG	0.433		NaN											0	0	0	0.002222	0	45	28				
PHF6	84295	broad.mit.edu	37	X	133511786	133511786	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:133511786G>A	uc004exj.2	+	2	340	c.138_splice	c.e2+1	p.M46_splice	PHF6_uc004exk.2_Splice_Site_p.M46_splice|PHF6_uc011mvk.1_Splice_Site_p.M46_splice|PHF6_uc004exh.2_Splice_Site_p.M46_splice|PHF6_uc010nrr.2_Splice_Site_p.M46_splice|PHF6_uc004exi.2_Splice_Site_p.M46_splice	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN	PHD finger protein 6 isoform 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					TAAGTGCATGGTAAGTATACC	0.378		NaN											0	0	0	0.004878	0	36	30				
ZNF185	7739	broad.mit.edu	37	X	152128422	152128422	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:152128422G>T	uc010ntv.1	+	17	1623	c.1586G>T	c.(1585-1587)CGA>CTA	p.R529L	ZNF185_uc011myg.1_Missense_Mutation_p.R561L|ZNF185_uc011myh.1_Missense_Mutation_p.R532L|ZNF185_uc011myi.1_Missense_Mutation_p.R500L|ZNF185_uc011myj.1_Missense_Mutation_p.R470L|ZNF185_uc011myk.1_Missense_Mutation_p.R530L|ZNF185_uc004fgw.3_Missense_Mutation_p.R308L|ZNF185_uc004fgu.2_Missense_Mutation_p.R158L|ZNF185_uc004fgv.2_Missense_Mutation_p.R226L|ZNF185_uc004fgx.2_Missense_Mutation_p.R167L	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	529						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)					TTCGTCAGACGAGAGAGCTGC	0.582		NaN											1	0	1.6384e-10	0.001984	2.08208e-10	5	9				
C1orf9	51430	broad.mit.edu	37	1	172546905	172546905	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:172546905delT	uc001giq.3	+	13	1602	c.1286delT	c.(1285-1287)GTTfs	p.V429fs	C1orf9_uc010pmm.1_Frame_Shift_Del_p.V429fs|C1orf9_uc009wwd.2_Frame_Shift_Del_p.V385fs|C1orf9_uc010pmn.1_Frame_Shift_Del_p.V392fs|C1orf9_uc010pmo.1_RNA	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	chromosome 1 open reading frame 9 protein	429	SUN.				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				ovary(2)	2		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		ATTCTTTAGGTTGAGTTGCTA	0.289		NaN											NaN	NaN	NaN	NaN	NaN	24	79	---		---	---
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:30316501_30316503delCTG	uc001iux.2	-	2	2633_2635	c.2574_2576delCAG	c.(2572-2577)AGCAGT>AGT	p.858_859SS>S	KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_In_Frame_Del_p.720_721SS>S|KIAA1462_uc009xle.1_In_Frame_Del_p.858_859SS>S	NM_020848	NP_065899	Q9P266	K1462_HUMAN	hypothetical protein LOC57608	858_859	Ser-rich.									ovary(4)	4						ACTCTCCTCActgctgctgctgc	0.463		NaN											NaN	NaN	NaN	NaN	NaN	11	193	---		---	---
ALOX5	240	broad.mit.edu	37	10	45920479	45920480	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:45920479_45920480insG	uc001jce.2	+	6	832_833	c.733_734insG	c.(733-735)TTGfs	p.L245fs	ALOX5_uc009xmt.2_Frame_Shift_Ins_p.L245fs|ALOX5_uc010qfg.1_Frame_Shift_Ins_p.L245fs	NM_000698	NP_000689	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	245	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			ovary(1)|pancreas(1)	2		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CAACCCTGTGTTGATCCGGCGC	0.604		NaN											NaN	NaN	NaN	NaN	NaN	55	142	---		---	---
SLK	9748	broad.mit.edu	37	10	105727602	105727619	+	In_Frame_Del	DEL	TTGGGAGATTATAGGAGA	TTGGGAGATTATAGGAGA	-	rs149480041		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:105727602_105727619delTTGGGAGATTATAGGAGA	uc001kxo.1	+	1	133_150	c.99_116delTTGGGAGATTATAGGAGA	c.(97-117)TTTTGGGAGATTATAGGAGAA>TTA	p.33_39FWEIIGE>L	SLK_uc001kxp.1_In_Frame_Del_p.33_39FWEIIGE>L	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	serine/threonine kinase 2	33_39	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCGAAGACTTTTGGGAGATTATAGGAGAACTGGGCGAC	0.5		NaN											NaN	NaN	NaN	NaN	NaN	11	99	---		---	---
AMBRA1	55626	broad.mit.edu	37	11	46563668	46563677	+	Frame_Shift_Del	DEL	CTCCAGCCTG	CTCCAGCCTG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:46563668_46563677delCTCCAGCCTG	uc010rgu.1	-	7	2250_2259	c.1890_1899delCAGGCTGGAG	c.(1888-1899)AGCAGGCTGGAGfs	p.S630fs	AMBRA1_uc010rgt.1_Frame_Shift_Del_p.S196fs|AMBRA1_uc009ylc.1_Frame_Shift_Del_p.S630fs|AMBRA1_uc001ncu.1_Frame_Shift_Del_p.S540fs|AMBRA1_uc001ncv.2_Frame_Shift_Del_p.S540fs|AMBRA1_uc001ncw.2_Frame_Shift_Del_p.S540fs|AMBRA1_uc001ncx.2_Frame_Shift_Del_p.S630fs	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	630_633	Ser-rich.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGCTGCTCAACTCCAGCCTGCTGGAGCTGG	0.595		NaN											NaN	NaN	NaN	NaN	NaN	7	64	---		---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:71275774_71275776delCCT	uc001xmm.2	-	1	113_115	c.113_115delAGG	c.(112-117)GAGGCG>GCG	p.E38del	MAP3K9_uc001xml.2_In_Frame_Del_p.E38del	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.68		NaN											NaN	NaN	NaN	NaN	NaN	3	3	---		---	---
PSEN1	5663	broad.mit.edu	37	14	73659343	73659369	+	Splice_Site	DEL	TTTTTTCAGGGAAGTGTTTAAAACCTA	TTTTTTCAGGGAAGTGTTTAAAACCTA	-	rs63750311		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:73659343_73659369delTTTTTTCAGGGAAGTGTTTAAAACCTA	uc001xnr.2	+	7	833	c.549_splice	c.e7-1	p.G183_splice	PSEN1_uc001xnv.2_Splice_Site_p.G179_splice|PSEN1_uc010ark.2_Splice_Site_p.G179_splice|PSEN1_uc001xnt.1_Splice_Site|PSEN1_uc001xnu.2_Splice_Site	NM_000021	NP_000012	P49768	PSN1_HUMAN	presenilin 1 isoform I-467						amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|kidney(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTGTGTAATTTTTTTTCAGGGAAGTGTTTAAAACCTATAACGTTGCT	0.308		NaN											NaN	NaN	NaN	NaN	NaN	14	100	---		---	---
ENTPD5	957	broad.mit.edu	37	14	74438590	74438590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:74438590delA	uc010tuo.1	-	14	1360	c.1049delT	c.(1048-1050)TTAfs	p.L350fs	ENTPD5_uc001xpi.2_Frame_Shift_Del_p.L350fs	NM_001249	NP_001240	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	350					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TTCAACTTTTAAAATACCCCC	0.378		NaN											NaN	NaN	NaN	NaN	NaN	64	215	---		---	---
THAP10	56906	broad.mit.edu	37	15	71174825	71174843	+	Frame_Shift_Del	DEL	TATAAGACAAATCACTCTG	TATAAGACAAATCACTCTG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:71174825_71174843delTATAAGACAAATCACTCTG	uc002asv.2	-	3	866_884	c.724_742delCAGAGTGATTTGTCTTATA	c.(724-744)CAGAGTGATTTGTCTTATATGfs	p.Q242fs	LRRC49_uc002asu.2_Intron	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	242_248							DNA binding|metal ion binding			ovary(1)|skin(1)	2						TGTACAGCCATATAAGACAAATCACTCTGTTCACTCTTG	0.356		NaN											NaN	NaN	NaN	NaN	NaN	7	190	---		---	---
ATAD5	79915	broad.mit.edu	37	17	29220513	29220513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:29220513delG	uc002hfs.1	+	21	4988	c.4642delG	c.(4642-4644)GCTfs	p.A1548fs		NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1548					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			ovary(3)	3		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAATTGTCTTGCTAGGAAACA	0.363		NaN											NaN	NaN	NaN	NaN	NaN	32	91	---		---	---
TOP2A	7153	broad.mit.edu	37	17	38564250	38564251	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:38564250_38564251insT	uc002huq.2	-	12	1594_1595	c.1468_1469insA	c.(1468-1470)ATAfs	p.I490fs	TOP2A_uc002hur.1_Frame_Shift_Ins_p.I131fs	NM_001067	NP_001058	P11388	TOP2A_HUMAN	DNA topoisomerase II, alpha isozyme	490					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AACATTGAGTATTTTTCCTCTA	0.371		NaN											NaN	NaN	NaN	NaN	NaN	54	216	---		---	---
MBD1	4152	broad.mit.edu	37	18	47800609	47800626	+	In_Frame_Del	DEL	TGCCCCCGAATTTGGGCT	TGCCCCCGAATTTGGGCT	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:47800609_47800626delTGCCCCCGAATTTGGGCT	uc010dow.1	-	11	1513_1530	c.1076_1093delAGCCCAAATTCGGGGGCA	c.(1075-1095)AAGCCCAAATTCGGGGGCAGC>AGC	p.KPKFGG359del	MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_In_Frame_Del_p.KPKFGG309del|MBD1_uc010xdi.1_In_Frame_Del_p.KPKFGG410del|MBD1_uc002leh.3_Intron|MBD1_uc002len.2_In_Frame_Del_p.KPKFGG359del|MBD1_uc002lei.3_In_Frame_Del_p.KPKFGG359del|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_In_Frame_Del_p.KPKFGG310del|MBD1_uc002lel.3_In_Frame_Del_p.KPKFGG336del|MBD1_uc002lem.3_In_Frame_Del_p.KPKFGG359del|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_In_Frame_Del_p.KPKFGG384del|MBD1_uc010dox.1_In_Frame_Del_p.KPKFGG336del|MBD1_uc002leo.2_In_Frame_Del_p.KPKFGG359del	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1 isoform 1	359_364	CXXC-type 3.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						TTCTGGTTGCTGCCCCCGAATTTGGGCTTGTCGCAGCA	0.651		NaN											NaN	NaN	NaN	NaN	NaN	24	137	---		---	---
SLC20A1	6574	broad.mit.edu	37	2	113404397	113404433	+	Translation_Start_Site	DEL	CTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG	CTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:113404397_113404433delCTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG	uc002tib.2	+	2					uc010fkq.1_5'Flank	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate						phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			ovary(2)	2						ACAACCACTACTCCAGAGAATGGCAACGCTGATTACCAGTACTACAGCTGCTACCGC	0.409		NaN											NaN	NaN	NaN	NaN	NaN	9	53	---		---	---
KIF3B	9371	broad.mit.edu	37	20	30898454	30898483	+	In_Frame_Del	DEL	TATCGGGACTCAAAGCTTACCAGGCTCCTC	TATCGGGACTCAAAGCTTACCAGGCTCCTC	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:30898454_30898483delTATCGGGACTCAAAGCTTACCAGGCTCCTC	uc002wxq.2	+	2	1041_1070	c.874_903delTATCGGGACTCAAAGCTTACCAGGCTCCTC	c.(874-903)TATCGGGACTCAAAGCTTACCAGGCTCCTCdel	p.YRDSKLTRLL292del	KIF3B_uc010ztv.1_In_Frame_Del_p.YRDSKLTRLL292del|KIF3B_uc010ztw.1_In_Frame_Del_p.YRDSKLTRLL292del	NM_004798	NP_004789	O15066	KIF3B_HUMAN	kinesin family member 3B	292_301	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			central_nervous_system(3)|ovary(2)	5			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCACATTCCATATCGGGACTCAAAGCTTACCAGGCTCCTCCAAGATTCCC	0.509		NaN											NaN	NaN	NaN	NaN	NaN	8	62	---		---	---
ITCH	83737	broad.mit.edu	37	20	33057885	33057897	+	Frame_Shift_Del	DEL	ACTTCAAAGCAAA	ACTTCAAAGCAAA	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:33057885_33057897delACTTCAAAGCAAA	uc010geu.1	+	16	1772_1784	c.1580_1592delACTTCAAAGCAAA	c.(1579-1593)GACTTCAAAGCAAAGfs	p.D527fs	ITCH_uc002xak.2_Frame_Shift_Del_p.D486fs|ITCH_uc010zuj.1_Frame_Shift_Del_p.D376fs	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	itchy homolog E3 ubiquitin protein ligase	527_531					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			breast(4)|lung(1)|central_nervous_system(1)	6						TATGTTCGGGACTTCAAAGCAAAGGTTCAGTAT	0.399		NaN											NaN	NaN	NaN	NaN	NaN	49	308	---		---	---
C20orf195	79025	broad.mit.edu	37	20	62187700	62187708	+	In_Frame_Del	DEL	GTTCGTCAC	GTTCGTCAC	-	rs150942473	by1000genomes	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:62187700_62187708delGTTCGTCAC	uc002yfj.2	+	2	776_784	c.684_692delGTTCGTCAC	c.(682-693)TGGTTCGTCACC>TGC	p.228_231WFVT>C	C20orf195_uc002yfk.2_In_Frame_Del_p.228_231WFVT>C	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	hypothetical protein LOC79025	228_231											0	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGCTGCGCTGGTTCGTCACCATCCAGCCA	0.641		NaN											NaN	NaN	NaN	NaN	NaN	53	200	---		---	---
TGFBR2	7048	broad.mit.edu	37	3	30713456	30713457	+	Frame_Shift_Ins	INS	-	-	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:30713456_30713457insC	uc003ceo.2	+	4	1163_1164	c.781_782insC	c.(781-783)GCCfs	p.A261fs	TGFBR2_uc003cen.2_Frame_Shift_Ins_p.A286fs	NM_003242	NP_003233	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II	261	Protein kinase.|Cytoplasmic (Potential).				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						GGTCTATAAGGCCAAGCTGAAG	0.515		NaN											NaN	NaN	NaN	NaN	NaN	50	62	---		---	---
DNAH1	25981	broad.mit.edu	37	3	52433606	52433607	+	Frame_Shift_Ins	INS	-	-	GGTGC			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:52433606_52433607insGGTGC	uc011bef.1	+	77	12748_12749	c.12487_12488insGGTGC	c.(12487-12489)GGGfs	p.G4163fs	DNAH1_uc003ddv.2_Intron	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4228					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCCCAAGTAGGGTGCTATATC	0.525		NaN											NaN	NaN	NaN	NaN	NaN	7	39	---		---	---
ZDHHC19	131540	broad.mit.edu	37	3	195935333	195935355	+	Frame_Shift_Del	DEL	GCCCGAGTAGAGGCACAGGGACA	GCCCGAGTAGAGGCACAGGGACA	-	rs75505676	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:195935333_195935355delGCCCGAGTAGAGGCACAGGGACA	uc003fwc.2	-	4	599_621	c.485_507delTGTCCCTGTGCCTCTACTCGGGC	c.(484-507)CTGTCCCTGTGCCTCTACTCGGGCfs	p.L162fs	ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_RNA|ZDHHC19_uc010iab.2_RNA	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC domain containing 19	162_169	Helical; (Potential).					integral to membrane	acyltransferase activity|zinc ion binding			ovary(3)	3	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CCAGCATGGCGCCCGAGTAGAGGCACAGGGACAGGACAAGCAG	0.583		NaN											NaN	NaN	NaN	NaN	NaN	20	40	---		---	---
C4orf14	84273	broad.mit.edu	37	4	57842717	57842743	+	In_Frame_Del	DEL	GCCCACTAAGTAGACGTCCCCACGGTA	GCCCACTAAGTAGACGTCCCCACGGTA	-	rs145154138		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:57842717_57842743delGCCCACTAAGTAGACGTCCCCACGGTA	uc003hck.2	-	1	1084_1110	c.1009_1035delTACCGTGGGGACGTCTACTTAGTGGGC	c.(1009-1035)TACCGTGGGGACGTCTACTTAGTGGGCdel	p.YRGDVYLVG337del	POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	337_345							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)					CGTTGGTGGCGCCCACTAAGTAGACGTCCCCACGGTAGCGCCAGGAG	0.612		NaN											NaN	NaN	NaN	NaN	NaN	9	87	---		---	---
FBXW7	55294	broad.mit.edu	37	4	153245449	153245450	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:153245449_153245450insG	uc003ims.2	-	11	1890_1891	c.1741_1742insC	c.(1741-1743)CAGfs	p.Q581fs	FBXW7_uc011cii.1_Frame_Shift_Ins_p.Q581fs|FBXW7_uc003imt.2_Frame_Shift_Ins_p.Q581fs|FBXW7_uc011cih.1_Frame_Shift_Ins_p.Q405fs|FBXW7_uc003imq.2_Frame_Shift_Ins_p.Q501fs|FBXW7_uc003imr.2_Frame_Shift_Ins_p.Q463fs	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7 isoform	581	WD 6.				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	p.G579_Q581>E(1)		haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGTTAACGACTGGTGCCCTGTT	0.416		NaN	Mis|N|D|F		colorectal|endometrial|T-ALL								NaN	NaN	NaN	NaN	NaN	12	56	---	Valid	---	---
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:24492973delA	uc003jgr.1	-	10	1909	c.1577delT	c.(1576-1578)TTCfs	p.F526fs	CDH10_uc011cnu.1_RNA	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 preproprotein	526	Cadherin 5.|Extracellular (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|pancreas(4)|breast(2)	12				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313		NaN								HNSCC(23;0.051)			NaN	NaN	NaN	NaN	NaN	10	399	---		---	---
PTTG1	9232	broad.mit.edu	37	5	159849713	159849715	+	Splice_Site	DEL	CAG	CAG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:159849713_159849715delCAG	uc003lyj.2	+	3	137	c.92_splice	c.e3-1	p.S31_splice	PTTG1_uc003lyk.2_Splice_Site_p.S31_splice	NM_004219	NP_004210	O95997	PTTG1_HUMAN	pituitary tumor-transforming protein 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		ACTTTTTCTTCAGCAATCAAAGC	0.424		NaN											NaN	NaN	NaN	NaN	NaN	20	94	---		---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs11270020		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	uc003zch.2	+	12	1321	c.1267_splice	c.e12+1	p.D423_splice	ADCK5_uc003zcg.2_Intron|ADCK5_uc003zci.2_Splice_Site_p.D12_splice	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5							integral to membrane	protein serine/threonine kinase activity			stomach(1)	1	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.66		NaN											NaN	NaN	NaN	NaN	NaN	3	4	---		---	---
TLR4	7099	broad.mit.edu	37	9	120470999	120471017	+	Splice_Site	DEL	TTTATCCAGGTAATGAATC	TTTATCCAGGTAATGAATC	-	rs148067660	by1000genomes	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:120470999_120471017delTTTATCCAGGTAATGAATC	uc004bjz.2	+	2	551	c.260_splice	c.e2+1	p.R87_splice	TLR4_uc004bka.2_Splice_Site_p.R47_splice|TLR4_uc004bkb.2_Intron	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor						activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16						AGGTGCTGGATTTATCCAGGTAATGAATCCACTTTTACA	0.438		NaN											NaN	NaN	NaN	NaN	NaN	43	132	---		---	---
AMMECR1	9949	broad.mit.edu	37	X	109459809	109459823	+	In_Frame_Del	DEL	CCGTGGCAGCTCATC	CCGTGGCAGCTCATC	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:109459809_109459823delCCGTGGCAGCTCATC	uc004eoo.2	-	3	703_717	c.622_636delGATGAGCTGCCACGG	c.(622-636)GATGAGCTGCCACGGdel	p.DELPR208del	AMMECR1_uc004eop.2_In_Frame_Del_p.DELPR171del|AMMECR1_uc004eoq.2_In_Frame_Del_p.DELPR85del	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN	AMMECR1 protein isoform 1	208_212	AMMECR1.										0						AGCAGAAAAGCCGTGGCAGCTCATCCCTTGTCATT	0.377		NaN											NaN	NaN	NaN	NaN	NaN	23	61	---		---	---
