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
NPHP4	261734	broad.mit.edu	37	1	5925294	5925294	+	Silent	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:5925294G>T	uc001alq.1	-	27	3950	c.3684C>A	c.(3682-3684)GTC>GTA	p.V1228V	NPHP4_uc001alr.1_3'UTR	NM_015102	NP_055917	O75161	NPHP4_HUMAN	nephroretinin	1228					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGGAGGTAGACCTGCCACG	0.647												
PRDM2	7799	broad.mit.edu	37	1	14057566	14057566	+	Silent	SNP	G	G	A	rs146413934		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:14057566G>A	uc001avi.2	+	3	937	c.81G>A	c.(79-81)CCG>CCA	p.P27P	PRDM2_uc001avg.2_Silent_p.P27P|PRDM2_uc001avh.2_Silent_p.P27P|PRDM2_uc001avj.2_RNA	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	retinoblastoma protein-binding zinc finger	27	SET.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAGGACTTCCGGAGGAAGTGA	0.562												
CELA2B	51032	broad.mit.edu	37	1	15802967	15802967	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:15802967T>A	uc001awl.2	+	2	81	c.56T>A	c.(55-57)GTC>GAC	p.V19D		NM_015849	NP_056933	P08218	CEL2B_HUMAN	elastase 2B preproprotein	19					proteolysis	extracellular region	serine-type endopeptidase activity			ovary(1)	1						AGTTGTGGGGTCTCCACTTAC	0.527												
CLIC4	25932	broad.mit.edu	37	1	25167282	25167282	+	Missense_Mutation	SNP	C	C	T	rs145958058	byFrequency	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:25167282C>T	uc001bjo.2	+	6	901	c.616C>T	c.(616-618)CGC>TGC	p.R206C	CLIC4_uc001bjn.2_RNA|CLIC4_uc001bjp.1_Missense_Mutation_p.R186C	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	206	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity				0		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CAAAAAATATCGCAACTTTGA	0.378												
PHACTR4	65979	broad.mit.edu	37	1	28800582	28800582	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:28800582A>T	uc001bpw.2	+	7	1622	c.1340A>T	c.(1339-1341)GAA>GTA	p.E447V	PHACTR4_uc001bpv.1_RNA|PHACTR4_uc001bpx.2_Missense_Mutation_p.E431V|PHACTR4_uc001bpy.2_Missense_Mutation_p.E457V	NM_001048183	NP_001041648	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4 isoform 1	447							actin binding|protein phosphatase inhibitor activity				0		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCTTTTTGAAAACAGTGAC	0.488												
SFRS4	6429	broad.mit.edu	37	1	29481422	29481422	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:29481422C>T	uc001bro.2	-	4	737	c.364G>A	c.(364-366)GAT>AAT	p.D122N	SFRS4_uc010ofy.1_Intron|SFRS4_uc009vtp.2_RNA	NM_005626	NP_005617	Q08170	SRSF4_HUMAN	splicing factor, arginine/serine-rich 4	122	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding				0		Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151)		Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138)		CGCATATAATCCTGAAGAAAA	0.348												
GRIK3	2899	broad.mit.edu	37	1	37291214	37291214	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:37291214C>A	uc001caz.2	-	11	1879	c.1744G>T	c.(1744-1746)GTC>TTC	p.V582F	GRIK3_uc001cba.1_Missense_Mutation_p.V582F	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	582	Helical; (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)	CTGGCGATGACGAAGAGGACA	0.577												
MTF1	4520	broad.mit.edu	37	1	38289411	38289411	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:38289411G>A	uc001cce.1	-	8	1283	c.1142C>T	c.(1141-1143)ACG>ATG	p.T381M	MTF1_uc009vvj.1_Missense_Mutation_p.T72M	NM_005955	NP_005946	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	381						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			ovary(1)|pancreas(1)	2	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGAATTGCCGTATCATCTGA	0.453												
TIE1	7075	broad.mit.edu	37	1	43770806	43770806	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:43770806C>T	uc001ciu.2	+	2	422	c.343C>T	c.(343-345)CGC>TGC	p.R115C	TIE1_uc010okd.1_Missense_Mutation_p.R115C|TIE1_uc010oke.1_Missense_Mutation_p.R70C|TIE1_uc009vwq.2_Missense_Mutation_p.R115C|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'Flank|TIE1_uc010oka.1_Missense_Mutation_p.R115C|TIE1_uc010okb.1_Missense_Mutation_p.R115C|TIE1_uc010okc.1_Missense_Mutation_p.R115C	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	115	Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCGGCGCACGCGCGTCATCTA	0.701												
BEND5	79656	broad.mit.edu	37	1	49224580	49224580	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:49224580A>C	uc001crx.3	-	3	781	c.737T>G	c.(736-738)CTT>CGT	p.L246R	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Missense_Mutation_p.L77R	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	246										skin(1)	1						ACCGCTGCCAAGCCGCAGGAG	0.577												
ELAVL4	1996	broad.mit.edu	37	1	50610646	50610646	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:50610646G>T	uc001csb.2	+	2	295	c.27G>T	c.(25-27)GAG>GAT	p.E9D	ELAVL4_uc001cry.3_Missense_Mutation_p.E12D|ELAVL4_uc001crz.3_Missense_Mutation_p.E9D|ELAVL4_uc001csa.3_Missense_Mutation_p.E26D|ELAVL4_uc001csc.3_Missense_Mutation_p.E9D|ELAVL4_uc009vyu.2_Missense_Mutation_p.E14D|ELAVL4_uc010omz.1_Missense_Mutation_p.E14D	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	9					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GCACCATGGAGCCTCAGGTGT	0.373												
ELAVL4	1996	broad.mit.edu	37	1	50642827	50642827	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:50642827C>G	uc001csb.2	+	3	585	c.317C>G	c.(316-318)ACT>AGT	p.T106S	ELAVL4_uc001cry.3_Missense_Mutation_p.T109S|ELAVL4_uc001crz.3_Missense_Mutation_p.T106S|ELAVL4_uc001csa.3_Missense_Mutation_p.T123S|ELAVL4_uc001csc.3_Missense_Mutation_p.T106S|ELAVL4_uc009vyu.2_Missense_Mutation_p.T111S|ELAVL4_uc010omz.1_Missense_Mutation_p.T111S	NM_021952	NP_068771	P26378	ELAV4_HUMAN	ELAV-like 4 isoform 1	106	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			ovary(1)|pancreas(1)	2						GCCATCAACACTTTAAATGGA	0.358												
C1orf173	127254	broad.mit.edu	37	1	75097440	75097440	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:75097440C>T	uc001dgg.2	-	7	995	c.776G>A	c.(775-777)CGT>CAT	p.R259H	C1orf173_uc001dgi.3_Missense_Mutation_p.R53H	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	259	Poly-Arg.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						AGTGGTTGGACGAAATCTTCT	0.363												
DENND2C	163259	broad.mit.edu	37	1	115168270	115168270	+	Silent	SNP	T	T	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:115168270T>G	uc001efd.1	-	4	1038	c.336A>C	c.(334-336)TCA>TCC	p.S112S	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Silent_p.S112S	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	112										skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTGGATTCTGATTCATTTT	0.343												
HFE2	148738	broad.mit.edu	37	1	145415460	145415460	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:145415460C>T	uc001eni.2	+	3	604	c.279C>T	c.(277-279)ACC>ACT	p.T93T	NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_5'UTR|HFE2_uc001enl.2_Intron	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN	hemojuvelin isoform a precursor	93					axon guidance	anchored to membrane				ovary(1)	1	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCGGCGCACCGCCCGCACCT	0.692												
FLG	2312	broad.mit.edu	37	1	152282081	152282081	+	Missense_Mutation	SNP	G	G	A	rs149721675		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:152282081G>A	uc001ezu.1	-	3	5317	c.5281C>T	c.(5281-5283)CGT>TGT	p.R1761C		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1761	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCCTGAACGTCCAGACCTT	0.597									Ichthyosis			
ASH1L	55870	broad.mit.edu	37	1	155307502	155307502	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:155307502C>T	uc009wqq.2	-	28	9339	c.8859G>A	c.(8857-8859)AGG>AGA	p.R2953R	RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Silent_p.R2948R	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	absent, small, or homeotic 1-like	2953					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)			TTCGCAGTTTCCTGCCTGATC	0.453												
IQGAP3	128239	broad.mit.edu	37	1	156521536	156521536	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:156521536G>A	uc001fpf.2	-	15	1770	c.1695C>T	c.(1693-1695)TAC>TAT	p.Y565Y	IQGAP3_uc009wsb.1_Silent_p.Y522Y	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	565					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGAGGAGATGGTACCGAGGGG	0.567												
HAPLN2	60484	broad.mit.edu	37	1	156593630	156593630	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:156593630C>T	uc001fpn.1	+	4	524	c.117C>T	c.(115-117)CCC>CCT	p.P39P	HAPLN2_uc010phq.1_Silent_p.P39P	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	39	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACCTCCTGCCCCCCATCCACG	0.682												
ETV3L	440695	broad.mit.edu	37	1	157069094	157069094	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:157069094G>A	uc001fqq.1	-	2	420	c.135C>T	c.(133-135)ATC>ATT	p.I45I		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	45	ETS.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GCAGCTCCAGGATGAAGTGCC	0.612												
OR6Y1	391112	broad.mit.edu	37	1	158517014	158517014	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:158517014A>C	uc010pil.1	-	1	882	c.882T>G	c.(880-882)ATT>ATG	p.I294M		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y,	294	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)					TCAGACAGTAAATGATGGGGT	0.453												
OR6K3	391114	broad.mit.edu	37	1	158687639	158687639	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:158687639C>A	uc010pip.1	-	1	315	c.315G>T	c.(313-315)AAG>AAT	p.K105N		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	105	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)					AGATGGCCTTCTTTTCACTGA	0.443												
CD247	919	broad.mit.edu	37	1	167400933	167400933	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:167400933G>A	uc001gei.3	-	8	625	c.480C>T	c.(478-480)GCC>GCT	p.A160A	CD247_uc001gej.3_Silent_p.A159A	NM_198053	NP_932170	P20963	CD3Z_HUMAN	T-cell receptor zeta chain isoform 1 precursor	160	Cytoplasmic (Potential).				interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytoplasm|integral to membrane	protein homodimerization activity|transmembrane receptor activity				0			LUSC - Lung squamous cell carcinoma(543;0.236)			GAGGGGGCAGGGCCTGCATGT	0.547												
TNN	63923	broad.mit.edu	37	1	175086196	175086196	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:175086196C>T	uc001gkl.1	+	10	2354	c.2241C>T	c.(2239-2241)GAC>GAT	p.D747D		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	747	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)		CTGCCAAGGACGGAGAGACCA	0.637												
FAM20B	9917	broad.mit.edu	37	1	179019498	179019498	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:179019498C>T	uc001gmc.2	+	3	755	c.462C>T	c.(460-462)GAC>GAT	p.D154D		NM_014864	NP_055679	O75063	XYLK_HUMAN	hypothetical protein LOC9917 precursor	154	Lumenal (Potential).					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			ovary(3)	3						TTCACTTGGACAGGTGCGTAT	0.458												
ASPM	259266	broad.mit.edu	37	1	197093437	197093437	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:197093437G>A	uc001gtu.2	-	13	3450	c.3193C>T	c.(3193-3195)CAA>TAA	p.Q1065*	ASPM_uc001gtv.2_Nonsense_Mutation_p.Q1065*|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1065	Potential.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6						TCCTTTAATTGATCTAAGTTA	0.264												
KIF21B	23046	broad.mit.edu	37	1	200956132	200956132	+	Silent	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:200956132G>T	uc001gvs.1	-	25	3923	c.3606C>A	c.(3604-3606)GGC>GGA	p.G1202G	KIF21B_uc001gvr.1_Silent_p.G1202G|KIF21B_uc009wzl.1_Silent_p.G1202G|KIF21B_uc010ppn.1_Silent_p.G1202G	NM_017596	NP_060066	O75037	KI21B_HUMAN	kinesin family member 21B	1202					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6						ACAAAGTGCTGCCCCGGGTAG	0.592												
PPP1R12B	4660	broad.mit.edu	37	1	202318221	202318221	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:202318221G>T	uc001gya.1	+	1	386	c.242G>T	c.(241-243)GGT>GTT	p.G81V	PPP1R12B_uc001gxy.2_Missense_Mutation_p.G81V|PPP1R12B_uc009xad.1_5'UTR|PPP1R12B_uc009xae.1_Missense_Mutation_p.G81V|PPP1R12B_uc001gxz.1_Missense_Mutation_p.G81V	NM_002481	NP_002472	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory (inhibitor)	81	ANK 1.				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			ovary(3)	3			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTGGCAAGAGGTGCTGATATC	0.597												
FAM71A	149647	broad.mit.edu	37	1	212799147	212799147	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:212799147G>A	uc001hjk.2	+	1	1332	c.928G>A	c.(928-930)GCA>ACA	p.A310T	uc010pth.1_RNA	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	310	Ala-rich.									skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		ACAGGTGAGCGCAGCCATAGC	0.468												
SUSD4	55061	broad.mit.edu	37	1	223396725	223396725	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:223396725G>T	uc001hnx.2	-	7	1944	c.1310C>A	c.(1309-1311)TCT>TAT	p.S437Y	SUSD4_uc001hny.3_Missense_Mutation_p.S437Y|SUSD4_uc010puw.1_Missense_Mutation_p.S277Y	NM_017982	NP_060452	Q5VX71	SUSD4_HUMAN	sushi domain containing 4 isoform a	437	Cytoplasmic (Potential).					integral to membrane					0				GBM - Glioblastoma multiforme(131;0.0611)		GAGCAGCTCAGAAGAGCCTGA	0.607												
ZP4	57829	broad.mit.edu	37	1	238048755	238048755	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:238048755G>A	uc001hym.2	-	8	1096	c.1096C>T	c.(1096-1098)CAG>TAG	p.Q366*	LOC100130331_uc010pyc.1_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4 preproprotein	366	ZP.|Extracellular (Potential).				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			ovary(2)|skin(1)	3	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCCCAACACTGTTGTAGGAGC	0.537												
FMN2	56776	broad.mit.edu	37	1	240256749	240256749	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:240256749C>T	uc010pyd.1	+	1	1565	c.1340C>T	c.(1339-1341)CCG>CTG	p.P447L	FMN2_uc010pye.1_Missense_Mutation_p.P447L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	447					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAGAGGCGGCCGGAACCCTCC	0.687												
CEP170	9859	broad.mit.edu	37	1	243385112	243385112	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:243385112G>A	uc001hzs.2	-	3	517	c.109C>T	c.(109-111)CGT>TGT	p.R37C	CEP170_uc001hzt.2_Missense_Mutation_p.R37C|CEP170_uc001hzu.2_Missense_Mutation_p.R37C	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa isoform alpha	37	FHA.					centriole|microtubule|spindle				ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TCCACACTACGAGACTGAAAG	0.368												
OR2C3	81472	broad.mit.edu	37	1	247695102	247695102	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:247695102C>A	uc009xgy.2	-	2	1074	c.712G>T	c.(712-714)GCA>TCA	p.A238S	C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C,	238	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	all_cancers(71;4.51e-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)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GTGTTGAATGCCTTTCTCCGC	0.547												
OR2T6	254879	broad.mit.edu	37	1	248551279	248551279	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:248551279G>A	uc001iei.1	+	1	370	c.370G>A	c.(370-372)GTG>ATG	p.V124M		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T,	124	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGACCGCTACGTGGCCATCTG	0.567												
OR2G6	391211	broad.mit.edu	37	1	248685675	248685675	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:248685675C>A	uc001ien.1	+	1	728	c.728C>A	c.(727-729)TCT>TAT	p.S243Y		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	243	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTGTTCGTCTCACCTGGTT	0.458												
NEBL	10529	broad.mit.edu	37	10	21104554	21104554	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:21104554C>T	uc001iqi.2	-	22	2638	c.2241G>A	c.(2239-2241)TCG>TCA	p.S747S	NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA	NM_006393	NP_006384	O76041	NEBL_HUMAN	nebulette sarcomeric isoform	747	Nebulin 21.				regulation of actin filament length		actin binding|structural constituent of muscle			ovary(2)	2						AACCACTTGCCGAGCTAATAT	0.348												
ABI1	10006	broad.mit.edu	37	10	27057879	27057879	+	Silent	SNP	T	T	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:27057879T>C	uc001isx.2	-	6	788	c.621A>G	c.(619-621)CCA>CCG	p.P207P	ABI1_uc001ite.2_Silent_p.P202P|ABI1_uc010qdh.1_Silent_p.P202P|ABI1_uc010qdi.1_Silent_p.P143P|ABI1_uc001isy.2_Silent_p.P207P|ABI1_uc001ita.2_Silent_p.P207P|ABI1_uc001isz.2_Silent_p.P202P|ABI1_uc001itb.2_Silent_p.P224P|ABI1_uc001itc.2_Silent_p.P207P|ABI1_uc010qdj.1_Silent_p.P207P|ABI1_uc001itd.2_Silent_p.P207P|ABI1_uc010qdk.1_Silent_p.P207P|ABI1_uc010qdg.1_Silent_p.P73P	NM_005470	NP_005461	Q8IZP0	ABI1_HUMAN	abl-interactor 1 isoform a	207					actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)	1						TAGGAACTGTTGGGGGTTTAA	0.403												
TMEM72	643236	broad.mit.edu	37	10	45427458	45427458	+	Silent	SNP	C	C	T	rs80056477	byFrequency	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:45427458C>T	uc001jbn.2	+	3	347	c.150C>T	c.(148-150)GCC>GCT	p.A50A	uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_5'UTR	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN	transmembrane protein 72	50	Helical; (Potential).					integral to membrane					0						TTACAGGAGCCGCTGTCTCCA	0.572												
CHAT	1103	broad.mit.edu	37	10	50854647	50854647	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:50854647G>T	uc001jhz.2	+	8	1361	c.1208G>T	c.(1207-1209)AGG>ATG	p.R403M	CHAT_uc001jhv.1_Missense_Mutation_p.R285M|CHAT_uc001jhx.1_Missense_Mutation_p.R285M|CHAT_uc001jhy.1_Missense_Mutation_p.R285M|CHAT_uc001jia.2_Missense_Mutation_p.R285M|CHAT_uc010qgs.1_Missense_Mutation_p.R285M	NM_020549	NP_065574	P28329	CLAT_HUMAN	choline acetyltransferase isoform 2	403					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)	3		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GACACCCACAGGGCACTCCAG	0.632												
ZNF365	22891	broad.mit.edu	37	10	64415217	64415217	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:64415217A>C	uc001jmd.1	+	4	551	c.217A>C	c.(217-219)ACC>CCC	p.T73P	ZNF365_uc001jmc.2_Intron|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron	NM_199452	NP_955524	Q70YC4	TALAN_HUMAN	zinc finger protein 365 isoform D	73										ovary(1)|skin(1)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGAGAGGAAAACCCAAGTTTG	0.502												
LRRTM3	347731	broad.mit.edu	37	10	68687350	68687350	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:68687350C>A	uc001jmz.1	+	2	1226	c.676C>A	c.(676-678)CCA>ACA	p.P226T	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.P226T	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	226	Extracellular (Potential).|LRR 7.					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						GGCCCTTTTTCCAAGGTTGGT	0.463												
CPN1	1369	broad.mit.edu	37	10	101825124	101825124	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:101825124C>T	uc001kql.2	-	4	840	c.580G>A	c.(580-582)GAA>AAA	p.E194K		NM_001308	NP_001299	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1 precursor	194	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		GTCTCGGGTTCCACCTGGGAG	0.582												
FAM178A	55719	broad.mit.edu	37	10	102684668	102684668	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:102684668C>T	uc001krt.3	+	5	2452	c.1910C>T	c.(1909-1911)GCA>GTA	p.A637V	FAM178A_uc001krr.1_Missense_Mutation_p.A637V|FAM178A_uc001krs.2_Missense_Mutation_p.A637V|FAM178A_uc001kru.1_Missense_Mutation_p.A572V	NM_018121	NP_060591	Q8IX21	F178A_HUMAN	hypothetical protein LOC55719 isoform 1	637											0						CAGACTCCTGCAGCTACAGGA	0.413												
SORCS1	114815	broad.mit.edu	37	10	108389086	108389086	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:108389086C>T	uc001kym.2	-	19	2544	c.2536G>A	c.(2536-2538)GTC>ATC	p.V846I	SORCS1_uc001kyl.2_Missense_Mutation_p.V846I|SORCS1_uc009xxs.2_Missense_Mutation_p.V846I|SORCS1_uc001kyn.1_Missense_Mutation_p.V846I|SORCS1_uc001kyo.2_Missense_Mutation_p.V846I	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN	SORCS receptor 1 isoform a	846	Lumenal (Potential).|PKD.					integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGAGATTGACGTAAGACACC	0.488												
HSPA12A	259217	broad.mit.edu	37	10	118434850	118434850	+	Silent	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:118434850C>A	uc001lct.2	-	12	1575	c.1470G>T	c.(1468-1470)CTG>CTT	p.L490L	HSPA12A_uc001lcu.2_Silent_p.L407L	NM_025015	NP_079291	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	490							ATP binding			ovary(1)	1				all cancers(201;0.0158)		CCGCCTGCTGCAGCAGGGGCG	0.642												
TACC2	10579	broad.mit.edu	37	10	123844926	123844926	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:123844926G>T	uc001lfv.2	+	4	3271	c.2911G>T	c.(2911-2913)GAC>TAC	p.D971Y	TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.D971Y|TACC2_uc010qtv.1_Missense_Mutation_p.D971Y	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	971						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)				TGTCTTAAAAGACTTTTCTCT	0.547												
DMBT1	1755	broad.mit.edu	37	10	124339248	124339248	+	Silent	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:124339248C>A	uc001lgk.1	+	10	940	c.834C>A	c.(832-834)GGC>GGA	p.G278G	DMBT1_uc001lgl.1_Silent_p.G278G|DMBT1_uc001lgm.1_Silent_p.G278G|DMBT1_uc009xzz.1_Silent_p.G278G|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Silent_p.G130G	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1 isoform b	278	SRCR 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			central_nervous_system(7)	7		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGGCTGTGGCTGGGCCATGT	0.602												
EBF3	253738	broad.mit.edu	37	10	131671794	131671794	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:131671794G>A	uc001lki.1	-	8	762	c.703C>T	c.(703-705)CAC>TAC	p.H235Y		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	235					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GAATTGTTGTGCACAAACATG	0.507												
C10orf93	255352	broad.mit.edu	37	10	134755211	134755211	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:134755211C>T	uc001llt.1	-	3	266	c.190G>A	c.(190-192)GTG>ATG	p.V64M	C10orf93_uc001llu.2_Missense_Mutation_p.V64M	NM_173572	NP_775843	Q5SR76	CJ093_HUMAN	hypothetical protein LOC255352	64							binding			pancreas(1)	1		all_cancers(35;1.8e-07)|all_epithelial(44;6.22e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Colorectal(31;0.119)|Glioma(114;0.172)|Melanoma(40;0.175)		Epithelial(32;4.28e-05)|OV - Ovarian serous cystadenocarcinoma(35;4.31e-05)|all cancers(32;5.02e-05)		TCCTCGCTCACCTCTGGCTGC	0.612												
EPS8L2	64787	broad.mit.edu	37	11	709560	709560	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:709560C>T	uc001lqt.2	+	3	299	c.52C>T	c.(52-54)CTG>TTG	p.L18L	EPS8L2_uc010qwj.1_Silent_p.L18L|EPS8L2_uc001lqu.2_Silent_p.L18L|EPS8L2_uc010qwk.1_Silent_p.L18L|EPS8L2_uc001lqv.2_5'Flank	NM_022772	NP_073609	Q9H6S3	ES8L2_HUMAN	epidermal growth factor receptor pathway	18						cytoplasm				pancreas(1)	1		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGTGGCAGCCTGGGCCGGTC	0.642												
MUC5B	727897	broad.mit.edu	37	11	1272662	1272662	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:1272662C>T	uc009ycr.1	+	52	15644	c.15518C>T	c.(15517-15519)CCG>CTG	p.P5173L	MUC5B_uc001ltb.2_Missense_Mutation_p.P4854L	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	4851	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCACAGAGCCGAGCACTATA	0.627												
OR52H1	390067	broad.mit.edu	37	11	5566174	5566174	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:5566174G>T	uc010qzh.1	-	1	580	c.580C>A	c.(580-582)CAG>AAG	p.Q194K	HBG2_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H,	194	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|breast(1)	2		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGCGAGCTGGGCAACACCT	0.488												
OR56A1	120796	broad.mit.edu	37	11	6048513	6048513	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:6048513G>A	uc010qzw.1	-	1	422	c.422C>T	c.(421-423)TCC>TTC	p.S141F		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A,	141	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|breast(1)	3		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTGATGATGGATGGGTACCG	0.498												
LMO1	4004	broad.mit.edu	37	11	8284922	8284922	+	Translation_Start_Site	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:8284922G>A	uc001mgg.1	-	1	485	c.-12C>T	c.(-14--10)CACGG>CATGG		LMO1_uc009yfo.1_RNA|LMO1_uc001mgh.1_Intron	NM_002315	NP_002306	P25800	RBTN1_HUMAN	LIM domain only 1						cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding				0				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		CGGGCGCTCCGTGTCCAGCCG	0.736			T|A	TRD@	T-ALL|neuroblastoma	neuroblastoma						
OR4C13	283092	broad.mit.edu	37	11	49974600	49974600	+	Missense_Mutation	SNP	G	G	T	rs138466175	byFrequency	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:49974600G>T	uc010rhz.1	+	1	626	c.626G>T	c.(625-627)TGT>TTT	p.C209F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C,	209	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(1)	4						CTGTTAAACTGTCTCTTGCTC	0.488												
DDB1	1642	broad.mit.edu	37	11	61081144	61081144	+	Silent	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:61081144G>T	uc001nrc.3	-	16	2122	c.1896C>A	c.(1894-1896)GGC>GGA	p.G632G	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.G632G	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	632	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4						TGGGCTGGGTGCCCAAAGTCA	0.478								NER				
BEST1	7439	broad.mit.edu	37	11	61729788	61729788	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:61729788G>C	uc001nss.2	+	10	1742	c.1162G>C	c.(1162-1164)GGC>CGC	p.G388R	BEST1_uc010rlq.1_3'UTR|BEST1_uc010rlr.1_Missense_Mutation_p.W259S|BEST1_uc010rls.1_Missense_Mutation_p.G16R|BEST1_uc001nsr.2_Missense_Mutation_p.G328R|BEST1_uc009ynt.2_RNA|BEST1_uc010rlt.1_Missense_Mutation_p.G328R|BEST1_uc001nst.2_Missense_Mutation_p.G301R|BEST1_uc010rlu.1_3'UTR|BEST1_uc010rlv.1_Missense_Mutation_p.G282R	NM_004183	NP_004174	O76090	BEST1_HUMAN	bestrophin 1 isoform 1	388	Cytoplasmic (Potential).				response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			central_nervous_system(1)	1						TGCTCACGCTGGCATCATTGG	0.562												
AHNAK	79026	broad.mit.edu	37	11	62290003	62290003	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:62290003G>A	uc001ntl.2	-	5	12186	c.11886C>T	c.(11884-11886)GAC>GAT	p.D3962D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3962					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GTCCTGAGACGTCAAGGTCAG	0.483												
PCNXL3	399909	broad.mit.edu	37	11	65402868	65402868	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:65402868G>C	uc001oey.2	+	31	5133	c.5133G>C	c.(5131-5133)GAG>GAC	p.E1711D	PCNXL3_uc001oez.2_Missense_Mutation_p.E598D	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	pecanex-like 3	1711						integral to membrane					0						CCTCCGACGAGTACAAGATCA	0.637												
FAM181B	220382	broad.mit.edu	37	11	82444664	82444664	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:82444664G>A	uc001ozp.2	-	1	243	c.108C>T	c.(106-108)TGC>TGT	p.C36C		NM_175885	NP_787081	A6NEQ2	F181B_HUMAN	hypothetical protein LOC220382	36										large_intestine(1)	1						CCTCGAAACAGCAGCCCTTGT	0.706												
CNTN5	53942	broad.mit.edu	37	11	100221534	100221534	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:100221534A>C	uc001pga.2	+	24	3471	c.3132A>C	c.(3130-3132)GAA>GAC	p.E1044D	CNTN5_uc001pgb.2_Missense_Mutation_p.E970D|CNTN5_uc010ruk.1_Missense_Mutation_p.E315D	NM_014361	NP_055176	O94779	CNTN5_HUMAN	contactin 5 isoform long	1044	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ATATTATTGAAGTTCGAGCAT	0.388												
UBE4A	9354	broad.mit.edu	37	11	118253350	118253350	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:118253350G>A	uc001psw.2	+	13	2185	c.2056G>A	c.(2056-2058)GCA>ACA	p.A686T	UBE4A_uc001psv.2_Missense_Mutation_p.A693T	NM_004788	NP_004779	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	686					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1)	5	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGTGTTGGAAGCAGTGATGCC	0.483												
ARCN1	372	broad.mit.edu	37	11	118454629	118454629	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:118454629G>A	uc001ptq.2	+	4	714	c.553G>A	c.(553-555)GGA>AGA	p.G185R	ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Missense_Mutation_p.G97R|ARCN1_uc009zag.2_Missense_Mutation_p.G226R	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	185					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AGGATTTGGCGGATTTGGCAG	0.502												
OR8B3	390271	broad.mit.edu	37	11	124267190	124267190	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:124267190G>T	uc010saj.1	-	1	58	c.58C>A	c.(58-60)CAT>AAT	p.H20N	OR8B2_uc001qab.3_RNA	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AACTCTGGATGATCTGTTAAT	0.383												
APLP2	334	broad.mit.edu	37	11	130011402	130011402	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr11:130011402G>A	uc010sby.1	+	16	2126	c.1969G>A	c.(1969-1971)GAG>AAG	p.E657K	APLP2_uc001qfp.2_Missense_Mutation_p.E645K|APLP2_uc001qfq.2_Missense_Mutation_p.E589K|APLP2_uc010sbz.1_Missense_Mutation_p.E445K|APLP2_uc001qfr.2_Missense_Mutation_p.E411K|APLP2_uc001qfs.2_Missense_Mutation_p.E416K|APLP2_uc001qfv.2_Missense_Mutation_p.E548K|APLP2_uc009zcv.2_Missense_Mutation_p.E5K	NM_001642	NP_001633	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	657	Extracellular (Potential).				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			ovary(3)	3	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GGTCATTGACGAGACTCTGGA	0.502												
CLEC4E	26253	broad.mit.edu	37	12	8687405	8687405	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr12:8687405G>A	uc001quo.1	-	6	654	c.489C>T	c.(487-489)AGC>AGT	p.S163S		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	163	C-type lectin.|Extracellular (Potential).					integral to membrane	sugar binding			central_nervous_system(1)	1	Lung SC(5;0.184)					CATCCCAGAAGCTGAAAAAGA	0.348												
KIF21A	55605	broad.mit.edu	37	12	39735371	39735371	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr12:39735371C>T	uc001rly.2	-	14	2003	c.1857G>A	c.(1855-1857)GAG>GAA	p.E619E	KIF21A_uc001rlw.2_5'Flank|KIF21A_uc001rlx.2_Silent_p.E606E|KIF21A_uc001rlz.2_Silent_p.E606E|KIF21A_uc010skl.1_Silent_p.E606E	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	619					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(4)|pancreas(1)|lung(1)|skin(1)	7		Lung NSC(34;0.179)|all_lung(34;0.213)				CAtcttcctcctcctcctcct	0.274												
EPYC	1833	broad.mit.edu	37	12	91371944	91371944	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr12:91371944T>A	uc001tbk.2	-	3	354	c.261A>T	c.(259-261)GAA>GAT	p.E87D		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	87	Poly-Glu.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			skin(1)	1						TGGGAGTAGATTCCTCCTCCT	0.537											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC7A1	6541	broad.mit.edu	37	13	30110029	30110029	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr13:30110029G>A	uc001uso.2	-	3	684	c.297C>T	c.(295-297)CTC>CTT	p.L99L		NM_003045	NP_003036	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid	99	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity				0		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CATAGCTGTAGAGGTAAGCTG	0.592												
DCLK1	9201	broad.mit.edu	37	13	36699928	36699928	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr13:36699928T>C	uc001uvf.2	-	2	580	c.347A>G	c.(346-348)AAG>AGG	p.K116R		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	116	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GCTGGAAATCTTCTTGAGCCC	0.522												
DCT	1638	broad.mit.edu	37	13	95131262	95131262	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr13:95131262C>T	uc001vlv.3	-	1	675	c.248G>A	c.(247-249)CGT>CAT	p.R83H	DCT_uc010afh.2_Missense_Mutation_p.R83H	NM_001922	NP_001913	P40126	TYRP2_HUMAN	dopachrome tautomerase isoform 1	83	Lumenal, melanosome (Potential).				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	p.R83H(1)		ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CCACAGCTCACGGTCATCCTG	0.602												
ERCC5	2073	broad.mit.edu	37	13	103492133	103492133	+	Missense_Mutation	SNP	C	C	T	rs139012037	byFrequency	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr13:103492133C>T	uc001vpu.1	+	9	1552	c.1430C>T	c.(1429-1431)TCG>TTG	p.S477L	BIVM_uc001vps.2_Missense_Mutation_p.S477L|BIVM_uc010agc.2_Missense_Mutation_p.S255L|BIVM_uc001vpv.2_Missense_Mutation_p.S248L	NM_000123	NP_000114	P28715	ERCC5_HUMAN	XPG-complementing protein	Error:Variant_position_missing_in_P28715_after_alignment					negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CATCAGGACTCGGCATGGAAA	0.468			Mis|N|F			skin basal cell|skin squamous cell|melanoma		Direct_reversal_of_damage|NER	Xeroderma_Pigmentosum			
COL4A2	1284	broad.mit.edu	37	13	111155584	111155584	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr13:111155584G>A	uc001vqx.2	+	42	4283	c.3994G>A	c.(3994-3996)GGG>AGG	p.G1332R		NM_001846	NP_001837	P08572	CO4A2_HUMAN	alpha 2 type IV collagen preproprotein	1332	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			skin(3)|central_nervous_system(2)|ovary(1)	6	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CGGGGACTCCGGGCCCCAGGG	0.642												
SOX1	6656	broad.mit.edu	37	13	112722276	112722276	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr13:112722276G>A	uc001vsb.1	+	1	364	c.304G>A	c.(304-306)GAC>AAC	p.D102N		NM_005986	NP_005977	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	102	HMG box.				chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity				0	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		GCCGTTCATCGACGAGGCCAA	0.627												
RASA3	22821	broad.mit.edu	37	13	114781717	114781717	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr13:114781717C>T	uc001vui.2	-	13	1368	c.1237G>A	c.(1237-1239)GAC>AAC	p.D413N	RASA3_uc010tkk.1_Missense_Mutation_p.D381N|RASA3_uc001vuj.2_Missense_Mutation_p.D30N	NM_007368	NP_031394	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	413	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			lung(3)|skin(1)	4	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TTCACAGGGTCGATTTCACAG	0.517												
NPAS3	64067	broad.mit.edu	37	14	34269090	34269090	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr14:34269090G>A	uc001wru.2	+	12	1641	c.1577G>A	c.(1576-1578)CGC>CAC	p.R526H	NPAS3_uc001wrs.2_Missense_Mutation_p.R513H|NPAS3_uc001wrt.2_Missense_Mutation_p.R494H|NPAS3_uc001wrv.2_Missense_Mutation_p.R496H	NM_173159	NP_071406	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3 isoform 3	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCGGACAGCCGCGACAGCGAC	0.642												
CFL2	1073	broad.mit.edu	37	14	35182762	35182762	+	Silent	SNP	A	A	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr14:35182762A>C	uc001wsg.3	-	2	150	c.9T>G	c.(7-9)TCT>TCG	p.S3S	CFL2_uc010tpn.1_5'UTR|CFL2_uc001wsh.3_Silent_p.S3S|CFL2_uc001wsi.3_RNA|CFL2_uc001wsj.3_RNA	NM_021914	NP_068733	Q9Y281	COF2_HUMAN	cofilin 2	3						cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(2)	2	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CTGTAACTCCAGAAGCCTGAA	0.338												
POLE2	5427	broad.mit.edu	37	14	50154897	50154897	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr14:50154897G>A	uc001wwu.2	-	1	39	c.25C>T	c.(25-27)CGG>TGG	p.R9W	SDCCAG1_uc010anj.1_Intron|POLE2_uc001wwv.2_RNA	NM_002692	NP_002683	P56282	DPOE2_HUMAN	DNA-directed DNA polymerase epsilon 2	9					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			ovary(1)|skin(1)	2	all_epithelial(31;0.0021)|Breast(41;0.0124)					GAGAGCGCCCGGCTCCGCAGC	0.731												
PYGL	5836	broad.mit.edu	37	14	51401876	51401876	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr14:51401876C>A	uc001wyu.2	-	3	500	c.373G>T	c.(373-375)GAA>TAA	p.E125*	PYGL_uc010tqq.1_Nonsense_Mutation_p.E91*|PYGL_uc001wyv.2_5'UTR|PYGL_uc001wyw.3_Nonsense_Mutation_p.E125*	NM_002863	NP_002854	P06737	PYGL_HUMAN	liver glycogen phosphorylase isoform 1	125					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			skin(1)	1	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TCTTCAATTTCTTCTAACTCT	0.408												
SLC38A6	145389	broad.mit.edu	37	14	61512843	61512843	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr14:61512843A>G	uc001xfg.1	+	12	999	c.883A>G	c.(883-885)ATT>GTT	p.I295V	SLC38A6_uc001xfh.1_Missense_Mutation_p.I295V|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.I272V	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	295	Helical; (Potential).				amino acid transport|sodium ion transport	integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		AAGTTTTCTCATTTATTTTAT	0.303												
NRXN3	9369	broad.mit.edu	37	14	79433625	79433625	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr14:79433625A>G	uc001xun.2	+	10	2224	c.1733A>G	c.(1732-1734)GAC>GGC	p.D578G	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.D703G	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	951	Extracellular (Potential).|Laminin G-like 5.				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity			ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCCCTGAATGACAACCAGTGG	0.438												
RIN3	79890	broad.mit.edu	37	14	93118805	93118805	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr14:93118805G>C	uc001yap.2	+	6	1563	c.1411G>C	c.(1411-1413)GCC>CCC	p.A471P	RIN3_uc010auk.2_Missense_Mutation_p.A133P|RIN3_uc001yaq.2_Missense_Mutation_p.A396P|RIN3_uc001yar.1_Missense_Mutation_p.A133P|RIN3_uc001yas.1_Missense_Mutation_p.A133P	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	471	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			lung(2)|ovary(1)	3		all_cancers(154;0.0701)				TCGACAACTGGCCTCGACCCT	0.632												
C15orf2	23742	broad.mit.edu	37	15	24921694	24921694	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:24921694C>T	uc001ywo.2	+	1	1154	c.680C>T	c.(679-681)GCG>GTG	p.A227V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	hypothetical protein LOC23742	227					cell differentiation|multicellular organismal development|spermatogenesis					ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AAGGCCCAGGCGTCTCCAGCG	0.602												
ATP10A	57194	broad.mit.edu	37	15	25925073	25925073	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:25925073C>A	uc010ayu.2	-	21	4021	c.3915G>T	c.(3913-3915)CAG>CAT	p.Q1305H		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1305	Cytoplasmic (Potential).				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			pancreas(2)|ovary(1)|breast(1)|liver(1)	5		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GACGTGCCAGCTGAAGTTGTG	0.507												
ZFP106	64397	broad.mit.edu	37	15	42742247	42742247	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:42742247T>G	uc001zpw.2	-	2	2489	c.2154A>C	c.(2152-2154)GAA>GAC	p.E718D	ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.E501D|ZFP106_uc001zpy.1_Missense_Mutation_p.E741D	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	zinc finger protein 106 homolog	718						nucleolus	zinc ion binding			central_nervous_system(2)|ovary(1)	3		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		GCTTACTTAGTTCAGGCAGGA	0.483												
PPIP5K1	9677	broad.mit.edu	37	15	43826988	43826988	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:43826988C>T	uc001zrw.2	-	31	4369	c.4186G>A	c.(4186-4188)GAG>AAG	p.E1396K	PPIP5K1_uc001zrx.1_Missense_Mutation_p.E1369K|PPIP5K1_uc001zru.2_Missense_Mutation_p.E1371K|PPIP5K1_uc001zry.3_Missense_Mutation_p.E1371K|PPIP5K1_uc001zrv.2_Missense_Mutation_p.E1157K	NM_001130858	NP_001124330	Q6PFW1	VIP1_HUMAN	histidine acid phosphatase domain containing 2A	1396					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity				0						GCAGAAGTCTCCTGGGCCAGC	0.547												
DUOX2	50506	broad.mit.edu	37	15	45386852	45386852	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:45386852C>T	uc010bea.2	-	33	4636	c.4433G>A	c.(4432-4434)CGG>CAG	p.R1478Q	DUOX2_uc001zun.2_Missense_Mutation_p.R1478Q	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1478	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GAACAGACTCCGGTTCAGCAC	0.637												
UNC13C	440279	broad.mit.edu	37	15	54306946	54306946	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:54306946C>A	uc002ack.2	+	1	1846	c.1846C>A	c.(1846-1848)CAG>AAG	p.Q616K		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	616					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TATCCAAGGGCAGACTGAAAC	0.502												
UNC13C	440279	broad.mit.edu	37	15	54307612	54307612	+	Missense_Mutation	SNP	C	C	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:54307612C>G	uc002ack.2	+	1	2512	c.2512C>G	c.(2512-2514)CAA>GAA	p.Q838E		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	838					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			ovary(5)|pancreas(2)	7				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GACATTATCTCAATCAACTGC	0.423												
USP3	9960	broad.mit.edu	37	15	63866244	63866244	+	Splice_Site	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:63866244G>A	uc002amf.2	+	10	1038	c.909_splice	c.e10-1	p.I303_splice	USP3_uc010uii.1_Splice_Site|USP3_uc002amg.2_Splice_Site_p.I218_splice|USP3_uc002amh.2_Splice_Site_p.I281_splice|USP3_uc010uij.1_Splice_Site_p.I259_splice|USP3_uc010uik.1_Splice_Site_p.I54_splice|USP3_uc010bgs.2_Splice_Site_p.I286_splice|USP3_uc002ami.2_Splice_Site_p.I134_splice	NM_006537	NP_006528	Q9Y6I4	UBP3_HUMAN	ubiquitin thiolesterase 3						DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(80;0.0187)		ATTTTGTTTAGAAATGGAGCA	0.383												
LBXCOR1	390598	broad.mit.edu	37	15	68120229	68120229	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:68120229G>T	uc002aqy.1	+	3	1931	c.1931G>T	c.(1930-1932)GGC>GTC	p.G644V		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	transcriptional corepressor Corl1	688					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity				0						GCAGGGGGCGGCCCAGACGGT	0.622												
TBC1D21	161514	broad.mit.edu	37	15	74174028	74174028	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:74174028C>T	uc002avz.2	+	3	295	c.212C>T	c.(211-213)ACG>ATG	p.T71M	TBC1D21_uc010ulc.1_Missense_Mutation_p.T35M	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	71	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			ovary(2)	2						AAATTCCTCACGGGCTACTTC	0.612												
ISLR	3671	broad.mit.edu	37	15	74467329	74467329	+	Missense_Mutation	SNP	G	G	A	rs148769100		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:74467329G>A	uc002axg.1	+	2	412	c.130G>A	c.(130-132)GTG>ATG	p.V44M	ISLR_uc002axh.1_Missense_Mutation_p.V44M	NM_005545	NP_005536	O14498	ISLR_HUMAN	immunoglobulin superfamily containing	44	LRRNT.				cell adhesion	extracellular region				large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						CCTAGAATCCGTGCCGCCTGG	0.652												
ADAMTSL3	57188	broad.mit.edu	37	15	84582130	84582130	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:84582130G>A	uc002bjz.3	+	16	2211	c.1987G>A	c.(1987-1989)GGC>AGC	p.G663S	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G663S|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.G663S	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	663						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)			ATGCGTGGGAGGTATTTGAAC	0.483												
ACAN	176	broad.mit.edu	37	15	89392905	89392905	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:89392905C>T	uc010upo.1	+	10	2343	c.1969C>T	c.(1969-1971)CCT>TCT	p.P657S	ACAN_uc002bmx.2_Missense_Mutation_p.P657S|ACAN_uc010upp.1_Missense_Mutation_p.P657S|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	657					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTACCTCTACCCTAACCAGAC	0.652												
CACNA1H	8912	broad.mit.edu	37	16	1259359	1259359	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr16:1259359C>T	uc002cks.2	+	17	3939	c.3691C>T	c.(3691-3693)CGC>TGC	p.R1231C	CACNA1H_uc002ckt.2_Missense_Mutation_p.R1231C|CACNA1H_uc002cku.2_5'Flank|CACNA1H_uc010brj.2_5'Flank|CACNA1H_uc002ckv.2_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type,	1231	Cytoplasmic (Potential).				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(2)	2		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTTCTTCCTGCGCATCGACAG	0.711												
FLYWCH1	84256	broad.mit.edu	37	16	2983164	2983164	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr16:2983164G>A	uc002csd.2	+	5	1193	c.830G>A	c.(829-831)TGC>TAC	p.C277Y	FLYWCH1_uc002csb.2_Missense_Mutation_p.C276Y|FLYWCH1_uc002csc.2_Missense_Mutation_p.C276Y|FLYWCH1_uc010bsv.2_5'UTR	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1 isoform a	277	FLYWCH-type 2.					nucleus	DNA binding|metal ion binding				0						CTGAGGACGTGCTACGGGGGC	0.647												
ITGAL	3683	broad.mit.edu	37	16	30505559	30505559	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr16:30505559C>T	uc002dyi.3	+	12	1416	c.1240C>T	c.(1240-1242)CGG>TGG	p.R414W	ITGAL_uc002dyj.3_Missense_Mutation_p.R331W|ITGAL_uc010vev.1_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	integrin alpha L isoform a precursor	414	FG-GAP 4.|Extracellular (Potential).				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			ovary(3)|lung(3)|central_nervous_system(3)|breast(1)	10					Efalizumab(DB00095)	GCTGCCCTCCCGGCAAAAGAC	0.617												
TRIM72	493829	broad.mit.edu	37	16	31230619	31230619	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr16:31230619C>T	uc002ebn.1	+	4	725	c.496C>T	c.(496-498)CGT>TGT	p.R166C	PYDC1_uc002ebo.2_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	166	Potential.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0						GGAGACAGTGCGTCAGTTCCG	0.652												
ZFHX3	463	broad.mit.edu	37	16	72828910	72828910	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr16:72828910C>A	uc002fck.2	-	9	8344	c.7671G>T	c.(7669-7671)CAG>CAT	p.Q2557H	ZFHX3_uc002fcl.2_Missense_Mutation_p.Q1643H	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	2557					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|skin(2)	4		Ovarian(137;0.13)				TGAACTGGTTCTGCGCGCTCA	0.547												
ADAMTS18	170692	broad.mit.edu	37	16	77331238	77331238	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr16:77331238T>G	uc002ffc.3	-	18	3168	c.2749A>C	c.(2749-2751)ACC>CCC	p.T917P	ADAMTS18_uc010chc.1_Missense_Mutation_p.T505P|ADAMTS18_uc002ffe.1_Missense_Mutation_p.T613P	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	917					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18						ACTGGCTTGGTTTTTGCACTG	0.408												
VPS53	55275	broad.mit.edu	37	17	559155	559155	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:559155G>A	uc002frn.2	-	6	558	c.411C>T	c.(409-411)CAC>CAT	p.H137H	VPS53_uc002frk.2_Intron|VPS53_uc010cjo.1_Silent_p.H137H|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Silent_p.H108H|VPS53_uc002fro.2_Translation_Start_Site|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	137	Potential.				protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GGCGTTTGGCGTGATCTAATT	0.448												
ZZEF1	23140	broad.mit.edu	37	17	3937348	3937348	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:3937348G>C	uc002fxe.2	-	40	6609	c.6545C>G	c.(6544-6546)ACC>AGC	p.T2182S	ZZEF1_uc002fxh.2_Missense_Mutation_p.T496S|ZZEF1_uc002fxi.2_Missense_Mutation_p.T417S|ZZEF1_uc002fxj.1_Missense_Mutation_p.T795S	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2182							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GAGCAGGTGGGTGGTTTTCCA	0.547												
ZZEF1	23140	broad.mit.edu	37	17	3954207	3954207	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:3954207C>T	uc002fxe.2	-	36	5795	c.5731G>A	c.(5731-5733)GCC>ACC	p.A1911T	ZZEF1_uc002fxh.2_Missense_Mutation_p.A225T|ZZEF1_uc002fxi.2_Missense_Mutation_p.A146T|ZZEF1_uc002fxj.1_Missense_Mutation_p.A524T	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	1911							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCCAGGTGGGCGCTATAGAGA	0.607												
RABEP1	9135	broad.mit.edu	37	17	5253802	5253802	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:5253802C>A	uc002gbm.3	+	7	1065	c.841C>A	c.(841-843)CAG>AAG	p.Q281K	RABEP1_uc010clc.1_Missense_Mutation_p.Q274K|RABEP1_uc010cld.1_Missense_Mutation_p.Q238K|RABEP1_uc010vsw.1_Missense_Mutation_p.Q238K|RABEP1_uc002gbl.3_Missense_Mutation_p.Q281K	NM_004703	NP_004694	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	281	Potential.				apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			large_intestine(1)|ovary(1)	2						ACATACGTGGCAGAAGGCCAA	0.448												
ATP1B2	482	broad.mit.edu	37	17	7554931	7554931	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:7554931G>A	uc002gif.1	+	1	678	c.95G>A	c.(94-96)CGC>CAC	p.R32H		NM_001678	NP_001669	P14415	AT1B2_HUMAN	Na+/K+ -ATPase beta 2 subunit	32	Cytoplasmic (Potential).				ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|pancreas(1)	2		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		TTTATGGGCCGCACCGGGACC	0.687												
TP53	7157	broad.mit.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:7578403C>A	uc002gim.2	-	5	721	c.527G>T	c.(526-528)TGC>TTC	p.C176F	TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.2_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.1_Missense_Mutation_p.C137F	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	176	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).	Zinc.	CP -> FS (in a sporadic cancer; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|C -> F (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.C176F(102)|p.C176Y(56)|p.C176S(19)|p.C176W(11)|p.C176R(8)|p.C176fs*71(7)|p.0?(7)|p.C176*(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C176G(3)|p.C176fs*5(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.C44Y(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R42fs*24(1)|p.C83Y(1)|p.C176fs*72(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.C176fs*6(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)		ATGGTGGGGGCAGCGCCTCAC	0.652		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)		
MYH10	4628	broad.mit.edu	37	17	8383470	8383470	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:8383470G>A	uc002gll.2	-	38	5558	c.5462C>T	c.(5461-5463)GCC>GTC	p.A1821V	MYH10_uc002glm.2_Missense_Mutation_p.A1852V|MYH10_uc010cnx.2_Missense_Mutation_p.A1830V	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	1821	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2						CCCAATCTTGGCCTCCAGGGC	0.532												
PIK3R5	23533	broad.mit.edu	37	17	8814786	8814786	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:8814786G>A	uc002glt.2	-	2	93	c.26C>T	c.(25-27)ACG>ATG	p.T9M	PIK3R5_uc010vuz.1_Missense_Mutation_p.T9M|PIK3R5_uc002glu.3_Translation_Start_Site|PIK3R5_uc010coa.1_Missense_Mutation_p.T9M|PIK3R5_uc010cob.1_Intron	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	9					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						GCGGTCCTCCGTGCATGTCGT	0.667												
GLP2R	9340	broad.mit.edu	37	17	9764495	9764495	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:9764495G>A	uc002gmd.1	+	8	965	c.965G>A	c.(964-966)CGT>CAT	p.R322H		NM_004246	NP_004237	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor precursor	322	Helical; Name=4; (Potential).				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				lung(2)|ovary(1)	3					Glucagon recombinant(DB00040)	GGTTTCGCCCGTGCACACCTG	0.493												
MYH13	8735	broad.mit.edu	37	17	10265478	10265478	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:10265478G>T	uc002gmk.1	-	5	552	c.462C>A	c.(460-462)CAC>CAA	p.H154Q		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	154	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						TGGAGAAGATGTGGGGCGGGG	0.493												
MYH4	4622	broad.mit.edu	37	17	10366655	10366655	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:10366655A>G	uc002gmn.2	-	9	916	c.805T>C	c.(805-807)TAT>CAT	p.Y269H	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	269	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						ATTAACTTACATGTTTCAATA	0.303												
MYH2	4620	broad.mit.edu	37	17	10426631	10426631	+	Silent	SNP	A	A	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:10426631A>C	uc010coi.2	-	38	5699	c.5571T>G	c.(5569-5571)ACT>ACG	p.T1857T	uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.T1857T|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1857	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						GTACCTGGTAAGTGAGTTCCT	0.453												
RNF112	7732	broad.mit.edu	37	17	19318132	19318132	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:19318132G>A	uc010vyw.1	+	10	1257	c.1058G>A	c.(1057-1059)CGA>CAA	p.R353Q	RNF112_uc010vyv.1_Missense_Mutation_p.R353Q|RNF112_uc010vyx.1_Missense_Mutation_p.R236Q	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	353							GTP binding|GTPase activity|zinc ion binding			ovary(2)	2						CAAGGGAAGCGAGCCCGTTGC	0.617												
KIF2B	84643	broad.mit.edu	37	17	51901904	51901904	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:51901904C>T	uc002iua.2	+	1	1666	c.1510C>T	c.(1510-1512)CGG>TGG	p.R504W	uc010wna.1_RNA	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	504					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			ovary(5)|skin(3)	8						ACTGGTGCTCCGGGACTCCTT	0.478												
INTS2	57508	broad.mit.edu	37	17	59949691	59949691	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:59949691C>T	uc002izn.2	-	20	2813	c.2737G>A	c.(2737-2739)GTT>ATT	p.V913I	INTS2_uc002izm.2_Missense_Mutation_p.V905I	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	913					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3						GTTTGTCCAACTAAACCAATT	0.383												
METTL2A	339175	broad.mit.edu	37	17	60518011	60518011	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:60518011G>T	uc002izv.2	+	6	721	c.703G>T	c.(703-705)GCC>TCC	p.A235S	METTL2A_uc002izw.2_Missense_Mutation_p.A99S	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	235							methyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TCGGTGTTTTGCCTTTGTTCA	0.378												
HELZ	9931	broad.mit.edu	37	17	65082948	65082948	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:65082948T>A	uc010wqk.1	-	32	5681	c.5494A>T	c.(5494-5496)ATA>TTA	p.I1832L	HELZ_uc002jfv.3_RNA|HELZ_uc002jfx.3_Missense_Mutation_p.I1831L	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTCTTACCTATCAACTCTCTG	0.478												
WIPI1	55062	broad.mit.edu	37	17	66423299	66423299	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:66423299G>T	uc010dey.2	-	11	1260	c.1169C>A	c.(1168-1170)GCA>GAA	p.A390E	WIPI1_uc002jhd.3_RNA|WIPI1_uc010wqo.1_Missense_Mutation_p.A308E|WIPI1_uc002jhe.3_RNA|MIR635_hsa-mir-635|MI0003650_5'Flank	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting	390					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding				0						GGCTGAAGATGCACTTGGTCT	0.567												
SLC39A11	201266	broad.mit.edu	37	17	70732815	70732815	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:70732815C>T	uc002jjb.2	-	7	781	c.666G>A	c.(664-666)ACG>ACA	p.T222T	SLC39A11_uc002jja.2_Silent_p.T215T	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11 isoform 1	222					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			ovary(1)	1						TAGCAGATGCCGTCTTTTCTA	0.512												
DNAI2	64446	broad.mit.edu	37	17	72308221	72308221	+	Missense_Mutation	SNP	C	C	T	rs145602856	by1000genomes	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr17:72308221C>T	uc002jkf.2	+	12	1673	c.1574C>T	c.(1573-1575)GCG>GTG	p.A525V	DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_Intron|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate polypeptide 2	525					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			ovary(2)|central_nervous_system(1)	3						AAGGGTAAGGCGGAGGGCAGG	0.622									Kartagener_syndrome			
L3MBTL4	91133	broad.mit.edu	37	18	6046755	6046755	+	Splice_Site	SNP	T	T	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr18:6046755T>C	uc002kmz.3	-	17	1605	c.1445_splice	c.e17-1	p.V482_splice	L3MBTL4_uc010dkt.2_Splice_Site_p.V482_splice|L3MBTL4_uc002kmy.3_Intron	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4						chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)				gcacaagcactgtgaagagaa	0												
DSG3	1830	broad.mit.edu	37	18	29037082	29037082	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr18:29037082G>T	uc002kws.2	+	3	320	c.211G>T	c.(211-213)GCC>TCC	p.A71S		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	71	Extracellular (Potential).|Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAACCCAATTGCCAAGGTAAG	0.343												
NOL4	8715	broad.mit.edu	37	18	31709844	31709844	+	Silent	SNP	A	A	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr18:31709844A>G	uc010dmi.2	-	2	634	c.405T>C	c.(403-405)ACT>ACC	p.T135T	NOL4_uc002kxr.3_5'UTR|NOL4_uc010xbt.1_Silent_p.T61T|NOL4_uc010dmh.2_Silent_p.T61T|NOL4_uc010xbu.1_Silent_p.T135T|NOL4_uc002kxt.3_Silent_p.T135T|NOL4_uc010xbw.1_Silent_p.T21T	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	135						nucleolus	RNA binding			ovary(3)	3						CTGCTTTGTAAGTTCTCTTTT	0.333												
FHOD3	80206	broad.mit.edu	37	18	34205579	34205579	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr18:34205579C>T	uc002kzt.1	+	10	1160	c.1063C>T	c.(1063-1065)CGG>TGG	p.R355W	FHOD3_uc002kzr.1_Missense_Mutation_p.R355W|FHOD3_uc002kzs.1_Missense_Mutation_p.R355W|FHOD3_uc002kzu.1_Missense_Mutation_p.R180W|FHOD3_uc010dmz.1_Missense_Mutation_p.R108W	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	355	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGGCGAGCACCGGGGCCTGGA	0.697												
SMAD4	4089	broad.mit.edu	37	18	48591904	48591904	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr18:48591904C>T	uc010xdp.1	+	9	1605	c.1067C>T	c.(1066-1068)CCT>CTT	p.P356L	SMAD4_uc002lfb.3_Missense_Mutation_p.P201L	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	mothers against decapentaplegic homolog 4	356	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)|p.P356L(1)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TACGTGGACCCTTCTGGAGGA	0.433									Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			
RAX	30062	broad.mit.edu	37	18	56939701	56939701	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr18:56939701C>T	uc002lhx.2	-	2	622	c.435G>A	c.(433-435)ACG>ACA	p.T145T	RAX_uc010dpp.2_Intron	NM_013435	NP_038463	Q9Y2V3	RX_HUMAN	retina and anterior neural fold homeobox	145	Homeobox.				visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1		Lung NSC(161;0.0804)|Colorectal(73;0.0946)		STAD - Stomach adenocarcinoma(84;0.18)		GCAGCTGGTACGTGGTGAAAG	0.642												
C18orf22	79863	broad.mit.edu	37	18	77805864	77805864	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr18:77805864G>T	uc002lns.2	+	7	879	c.741G>T	c.(739-741)CAG>CAT	p.Q247H	C18orf22_uc010drh.2_Missense_Mutation_p.R219I|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_Missense_Mutation_p.Q80H|uc002lnu.2_5'Flank	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN	hypothetical protein LOC79863 precursor	247					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)		TCAACAAGCAGATTATGGAGT	0.572												
ATP8B3	148229	broad.mit.edu	37	19	1802601	1802601	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:1802601G>A	uc002ltw.2	-	11	1182	c.948C>T	c.(946-948)TTC>TTT	p.F316F	ATP8B3_uc002ltv.2_Silent_p.F263F|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Silent_p.F64F|ATP8B3_uc002ltz.1_Silent_p.F263F	NM_138813	NP_620168	O60423	AT8B3_HUMAN	ATPase, class I, type 8B, member 3	316	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity				0		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)		GGCACCCCACGAAGTGGTGCA	0.597												
GNG7	2788	broad.mit.edu	37	19	2515067	2515067	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:2515067C>T	uc002lwd.2	-	5	397	c.160G>A	c.(160-162)GCC>ACC	p.A54T	GNG7_uc010dte.1_Intron	NM_052847	NP_443079	O60262	GBG7_HUMAN	guanine nucleotide binding protein (G protein),	54					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0		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)		TTCTCCGAGGCAGGGACTCCG	0.408												
KDM4B	23030	broad.mit.edu	37	19	5131234	5131234	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:5131234C>T	uc002mbq.3	+	12	1689	c.1463C>T	c.(1462-1464)CCG>CTG	p.P488L	KDM4B_uc010xim.1_Missense_Mutation_p.P522L|KDM4B_uc002mbr.3_Missense_Mutation_p.P246L	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	488	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1						CTGGAGCCCCCGGTGCTGGGC	0.692												
DENND1C	79958	broad.mit.edu	37	19	6476976	6476976	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:6476976C>T	uc002mfe.2	-	10	662	c.570G>A	c.(568-570)AGG>AGA	p.R190R	DENND1C_uc002mfb.2_5'Flank|DENND1C_uc002mfc.2_5'Flank|DENND1C_uc002mfd.2_5'UTR|DENND1C_uc010xje.1_Silent_p.R146R	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	190	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			large_intestine(1)	1						CCGTTAGGTTCCTCTGAGGAT	0.647												
MUC16	94025	broad.mit.edu	37	19	9015369	9015369	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:9015369T>A	uc002mkp.2	-	30	38423	c.38219A>T	c.(38218-38220)AAG>ATG	p.K12740M	MUC16_uc010xki.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12742	SEA 5.|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						ACTGGTGTTCTTGAACATGGG	0.537												
OR7G1	125962	broad.mit.edu	37	19	9225581	9225581	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:9225581G>A	uc002mks.1	-	1	859	c.859C>T	c.(859-861)CCC>TCC	p.P287S		NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G,	287	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2						TAGATGAAGGGGTTCATCATT	0.438												
ZNF699	374879	broad.mit.edu	37	19	9407101	9407101	+	Silent	SNP	T	T	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:9407101T>G	uc002mlc.1	-	5	979	c.979A>C	c.(979-981)AGA>CGA	p.R327R		NM_198535	NP_940937	Q32M78	ZN699_HUMAN	zinc finger protein 699	327	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CTGTGAATTCTTTTGTGTTTG	0.408												
RDH8	50700	broad.mit.edu	37	19	10132297	10132297	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:10132297G>A	uc002mmr.2	+	6	1057	c.808G>A	c.(808-810)GTG>ATG	p.V270M		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	270					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	GCTCAAAACCGTGGATTCCTC	0.607												
NWD1	284434	broad.mit.edu	37	19	16860348	16860348	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:16860348C>T	uc002neu.3	+	6	1317	c.895C>T	c.(895-897)CGC>TGC	p.R299C	NWD1_uc002net.3_Missense_Mutation_p.R164C|NWD1_uc002nev.3_Missense_Mutation_p.R93C			Q149M9	NWD1_HUMAN	RecName: Full=NACHT and WD repeat domain-containing protein 1;	299	WD 1.						ATP binding			skin(3)|ovary(2)|pancreas(2)	7						CCAAGAGATCCGCCACCACCT	0.622												
MEF2B	100271849	broad.mit.edu	37	19	19261546	19261546	+	Translation_Start_Site	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:19261546G>A	uc002nlm.2	-	2	113	c.-1C>T	c.(-3-1)GACGA>GATGA		MEF2B_uc002nln.2_Missense_Mutation_p.T47M|MEF2B_uc002nll.2_Translation_Start_Site|LOC729991-MEF2B_uc010xqo.1_Translation_Start_Site|LOC729991-MEF2B_uc010xqp.1_Translation_Start_Site|LOC729991-MEF2B_uc002nlo.2_Translation_Start_Site|LOC729991-MEF2B_uc002nlp.2_Translation_Start_Site|MEF2B_uc002nlk.2_Translation_Start_Site	NM_001145785	NP_001139257			myocyte enhancer factor 2B isoform a											skin(1)	1			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CCTCCCCATCGTCCCAGGCTG	0.557												
CILP2	148113	broad.mit.edu	37	19	19654586	19654586	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:19654586A>G	uc002nmv.3	+	8	1317	c.1232A>G	c.(1231-1233)GAT>GGT	p.D411G	CILP2_uc002nmw.3_Missense_Mutation_p.D417G	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	411						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1						GCCTACCTGGATGTGGGCCTC	0.716												
ZNF429	353088	broad.mit.edu	37	19	21719370	21719370	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:21719370C>A	uc002nqd.1	+	4	652	c.515C>A	c.(514-516)CCT>CAT	p.P172H	ZNF429_uc010ecu.1_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	zinc finger protein 429	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GGAAAGAAACCTTTCCAGTGT	0.313												
TSHZ3	57616	broad.mit.edu	37	19	31769276	31769276	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:31769276C>T	uc002nsy.3	-	2	1488	c.1423G>A	c.(1423-1425)GAC>AAC	p.D475N		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	475					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)					TTCTCCTTGTCGACTTCCTTC	0.522												
ZNF781	163115	broad.mit.edu	37	19	38160615	38160615	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:38160615C>T	uc002ogy.2	-	4	1177	c.435G>A	c.(433-435)ACG>ACA	p.T145T	ZNF781_uc002ogz.2_Silent_p.T140T	NM_152605	NP_689818	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						TCTGTACATTCGTAAAGTCTC	0.388												
C19orf61	56006	broad.mit.edu	37	19	44244320	44244320	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:44244320T>A	uc002oxj.2	-	7	1095	c.752A>T	c.(751-753)AAC>ATC	p.N251I	C19orf61_uc002oxk.2_Missense_Mutation_p.N251I|C19orf61_uc010eiy.1_Missense_Mutation_p.N251I	NM_019108	NP_061981	Q9H0W8	SMG9_HUMAN	SMG9 protein	251					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding				0		Prostate(69;0.0352)				ACTGGTCTGGTTGCCCCCTCG	0.572												
FBXO46	23403	broad.mit.edu	37	19	46215975	46215975	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:46215975C>T	uc002pcy.2	-	2	904	c.779G>A	c.(778-780)CGC>CAC	p.R260H	FBXO46_uc002pcz.2_Missense_Mutation_p.R260H	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	F-box protein 46	260							protein binding			ovary(1)|lung(1)|breast(1)	3		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GAAGGCGATGCGCACCTCCCC	0.726												
LIG1	3978	broad.mit.edu	37	19	48636295	48636295	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:48636295G>A	uc002pia.1	-	18	1789	c.1669C>T	c.(1669-1671)CGC>TGC	p.R557C	LIG1_uc010xze.1_Missense_Mutation_p.R250C|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.R489C|LIG1_uc010xzg.1_Missense_Mutation_p.R526C	NM_000234	NP_000225	P18858	DNLI1_HUMAN	DNA ligase I	557					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			large_intestine(2)|lung(1)	3		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TCCTCAAAGCGTTTCAGGACC	0.557								NER				
LMTK3	114783	broad.mit.edu	37	19	48994447	48994447	+	Silent	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:48994447C>A	uc002pjk.2	-	15	4371	c.4371G>T	c.(4369-4371)CCG>CCT	p.P1457P		NM_001080434	NP_001073903			lemur tyrosine kinase 3											lung(5)|central_nervous_system(1)	6		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGAAGCACAGCGGGGGGCCTG	0.537												
SLC17A7	57030	broad.mit.edu	37	19	49936185	49936185	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:49936185C>T	uc002pnp.2	-	8	1072	c.900G>A	c.(898-900)ACG>ACA	p.T300T	SLC17A7_uc002pno.2_5'UTR	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	solute carrier family 17, member 7	300	Cytoplasmic (Potential).				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			ovary(1)|pancreas(1)|skin(1)	3		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CTGGCATAGACGTGAAGAAGC	0.622												
ACPT	93650	broad.mit.edu	37	19	51293690	51293690	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:51293690T>G	uc002pta.1	+	1	19	c.19T>G	c.(19-21)TGG>GGG	p.W7G		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	7						integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCTGGGGTTTTGGGGCCACCC	0.617												
ZNF880	400713	broad.mit.edu	37	19	52887920	52887920	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:52887920C>T	uc002pzc.2	+	4	1136	c.1087C>T	c.(1087-1089)CGA>TGA	p.R363*		NM_001145434	NP_001138906	Q6PDB4	ZN880_HUMAN	zinc finger protein LOC400713	363	C2H2-type 7.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding				0						GGTCTTCAATCGAAATGCACA	0.403												
KIR2DL4	3805	broad.mit.edu	37	19	55316320	55316320	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:55316320G>A	uc010yfm.1	+	3	189	c.149G>A	c.(148-150)CGG>CAG	p.R50Q	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_Intron|KIR2DL4_uc010yfl.1_Missense_Mutation_p.R45Q|KIR2DL4_uc002qhg.2_Missense_Mutation_p.R50Q|KIR2DL4_uc002qhi.2_Missense_Mutation_p.R50Q|KIR2DL4_uc002qhh.2_Intron|KIR2DL4_uc002qhj.2_Missense_Mutation_p.R50Q|KIR2DL4_uc002qhf.2_Intron|KIR2DL4_uc010esd.2_Missense_Mutation_p.R50Q|KIR2DL4_uc010ese.2_5'Flank	NM_002255	NP_002246	Q99706	KI2L4_HUMAN	killer cell immunoglobulin-like receptor, two	50	Ig-like C2-type 1.|Extracellular (Potential).				cellular defense response|regulation of immune response	integral to plasma membrane	protein binding|transmembrane receptor activity			ovary(1)	1				GBM - Glioblastoma multiforme(193;0.0192)		GTGACTCTTCGGTGTCACTAT	0.547												
KIR2DS4	3809	broad.mit.edu	37	19	55349296	55349296	+	Silent	SNP	A	A	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:55349296A>G	uc002qhm.1	+	3	382	c.336A>G	c.(334-336)TCA>TCG	p.S112S	KIR2DS4_uc010yfj.1_Silent_p.S105S|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Silent_p.S112S|KIR2DS4_uc002qhn.1_Silent_p.S59S	NM_012314	NP_036446	P43632	KI2S4_HUMAN	killer cell immunoglobulin-like receptor, two	112	Extracellular (Potential).					integral to plasma membrane	receptor activity				0				GBM - Glioblastoma multiforme(193;0.0192)		ATCAGTTGTCAGCTCCCAGTG	0.512												
SAPS1	22870	broad.mit.edu	37	19	55750801	55750801	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:55750801C>T	uc002qjw.3	-	15	1965	c.1723G>A	c.(1723-1725)GAG>AAG	p.E575K	SAPS1_uc002qjv.2_Missense_Mutation_p.E637K	NM_014931	NP_055746	Q9UPN7	PP6R1_HUMAN	SAPS domain family, member 1	575					regulation of phosphoprotein phosphatase activity	cytoplasm	protein phosphatase binding				0		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TCCCCAAACTCCTCATCATTG	0.592												
ZFP28	140612	broad.mit.edu	37	19	57066450	57066450	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:57066450T>A	uc002qnj.2	+	8	2367	c.2296T>A	c.(2296-2298)TTT>ATT	p.F766I	uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	766	C2H2-type 13.			Missing (in Ref. 4).	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;0.0302)		TGGCAAAGCCTTTAGTCATCG	0.398												
ZSCAN18	65982	broad.mit.edu	37	19	58596724	58596724	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:58596724G>A	uc002qri.2	-	7	1170	c.861C>T	c.(859-861)AGC>AGT	p.S287S	ZSCAN18_uc002qrj.3_Silent_p.S286S|ZSCAN18_uc010yhs.1_Silent_p.S151S|ZSCAN18_uc002qrh.2_Silent_p.S287S|ZSCAN18_uc010yht.1_Silent_p.S343S|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145543	NP_001139015	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	287					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCACCCAGCGCTCTCCTGCC	0.751												
SNTG2	54221	broad.mit.edu	37	2	1241788	1241788	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:1241788A>G	uc002qwq.2	+	10	976	c.848A>G	c.(847-849)AAC>AGC	p.N283S	SNTG2_uc010ewi.2_Missense_Mutation_p.N156S	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	283					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			ovary(1)|large_intestine(1)|breast(1)	3	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ACACTTCAGAACGTGAGCACA	0.507												
PQLC3	130814	broad.mit.edu	37	2	11300802	11300802	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:11300802C>T	uc002rbc.2	+	3	411	c.278C>T	c.(277-279)GCC>GTC	p.A93V	PQLC3_uc010yjk.1_Missense_Mutation_p.A93V	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3 precursor	93						integral to membrane					0	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		GTGAAGCAGGCCACTCCTTAC	0.507												
PEX13	5194	broad.mit.edu	37	2	61275819	61275819	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:61275819G>T	uc002sau.3	+	4	1209	c.1126G>T	c.(1126-1128)GCC>TCC	p.A376S		NM_002618	NP_002609	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	376	Cytoplasmic (Potential).				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			ACAGGAAGCTGCCTTTGAATC	0.393												
STEAP3	55240	broad.mit.edu	37	2	120005614	120005614	+	Silent	SNP	C	C	T	rs150323456	byFrequency	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:120005614C>T	uc002tlp.2	+	4	1009	c.852C>T	c.(850-852)CGC>CGT	p.R284R	STEAP3_uc002tlq.2_Silent_p.R294R|STEAP3_uc002tlr.2_Silent_p.R284R|STEAP3_uc010fle.2_Silent_p.R284R	NM_018234	NP_060704	Q658P3	STEA3_HUMAN	dudulin 2 isoform b	284	Ferric oxidoreductase.|Cytoplasmic (Potential).				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			central_nervous_system(2)|skin(1)	3						AGCTGCGGCGCGGCACCAAGT	0.682												
CNTNAP5	129684	broad.mit.edu	37	2	125521594	125521594	+	Silent	SNP	T	T	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:125521594T>A	uc002tno.2	+	16	2764	c.2400T>A	c.(2398-2400)TCT>TCA	p.S800S	CNTNAP5_uc010flu.2_Silent_p.S801S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	800	Laminin G-like 3.|Extracellular (Potential).				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAGAAGCCTCTTACCTCCACT	0.428												
LRP1B	53353	broad.mit.edu	37	2	141072523	141072523	+	Silent	SNP	A	A	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:141072523A>G	uc002tvj.1	-	83	13758	c.12786T>C	c.(12784-12786)ACT>ACC	p.T4262T		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	4262	Extracellular (Potential).|EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGGTACGCAAGTTCCTCCAT	0.358										TSP Lung(27;0.18)		
LRP1B	53353	broad.mit.edu	37	2	142888247	142888247	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:142888247C>A	uc002tvj.1	-	1	1024	c.52G>T	c.(52-54)GCC>TCC	p.A18S	LRP1B_uc010fnl.1_Missense_Mutation_p.A55S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	18					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCACCCTGGCAATCGGCAAT	0.617										TSP Lung(27;0.18)		
LYPD6B	130576	broad.mit.edu	37	2	150064896	150064896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:150064896C>T	uc002twv.1	+	5	699	c.298C>T	c.(298-300)CGA>TGA	p.R100*	LYPD6B_uc002tww.1_Nonsense_Mutation_p.R62*|LYPD6B_uc002twx.1_Nonsense_Mutation_p.R62*	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	76	UPAR/Ly6.					anchored to membrane|plasma membrane					0						TAACTGCAATCGATGGGCAGA	0.378												
KCNH7	90134	broad.mit.edu	37	2	163374466	163374466	+	Silent	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:163374466G>T	uc002uch.1	-	4	878	c.666C>A	c.(664-666)CCC>CCA	p.P222P	KCNH7_uc002uci.2_Silent_p.P222P	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H,	222	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			ovary(3)|skin(2)	5					Ibutilide(DB00308)	AACATTTGCTGGGCTGTATCA	0.463												
TTN	7273	broad.mit.edu	37	2	179438077	179438077	+	Missense_Mutation	SNP	C	C	T	rs142874389	by1000genomes	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:179438077C>T	uc010zfg.1	-	275	65302	c.65078G>A	c.(65077-65079)CGG>CAG	p.R21693Q	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R15388Q|TTN_uc010zfi.1_Missense_Mutation_p.R15321Q|TTN_uc010zfj.1_Missense_Mutation_p.R15196Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	22620							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)			TTTATCACGCCGTTCCACAAT	0.393												
COL5A2	1290	broad.mit.edu	37	2	189899659	189899659	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:189899659G>T	uc002uqk.2	-	53	4611	c.4336C>A	c.(4336-4338)CTT>ATT	p.L1446I	COL5A2_uc010frx.2_Missense_Mutation_p.L1022I	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	1446	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GTGTCTTGAAGAACGATATAC	0.353												
PLCL1	5334	broad.mit.edu	37	2	198953756	198953756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:198953756C>T	uc010fsp.2	+	3	3181	c.2890C>T	c.(2890-2892)CAG>TAG	p.Q964*	PLCL1_uc002uuv.3_Nonsense_Mutation_p.Q885*	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN	RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	964					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	TCCAGATGTGCAGAAAAAGAT	0.448												
MPP4	58538	broad.mit.edu	37	2	202519634	202519634	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:202519634G>A	uc002uyk.3	-	18	1515	c.1307C>T	c.(1306-1308)TCT>TTT	p.S436F	MPP4_uc002uyi.3_Missense_Mutation_p.S54F|MPP4_uc010ftj.2_Missense_Mutation_p.S429F|MPP4_uc010zhq.1_Missense_Mutation_p.S405F|MPP4_uc010zhr.1_Missense_Mutation_p.S412F|MPP4_uc010zhs.1_Missense_Mutation_p.S361F|MPP4_uc002uyj.3_Missense_Mutation_p.S401F|MPP4_uc010zht.1_Missense_Mutation_p.S378F|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Missense_Mutation_p.S392F	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	436	Guanylate kinase-like.					cytoplasm	protein binding				0						TCCAACACCAGAGGGTCCTAA	0.353												
ADAM23	8745	broad.mit.edu	37	2	207459514	207459514	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:207459514G>T	uc002vbq.2	+	23	2355	c.2132G>T	c.(2131-2133)GGA>GTA	p.G711V	ADAM23_uc010ziv.1_RNA	NM_003812	NP_003803	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23 preproprotein	711	Extracellular (Potential).				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)|ovary(1)	3				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GTAGAAGATGGAACGCCATGT	0.428												
MAP2	4133	broad.mit.edu	37	2	210560529	210560529	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:210560529T>C	uc002vde.1	+	7	3883	c.3635T>C	c.(3634-3636)ATC>ACC	p.I1212T	MAP2_uc002vdc.1_Missense_Mutation_p.I1212T|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.I1208T	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1212					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GATATATCCATCACGCCTTCT	0.453												
COL6A3	1293	broad.mit.edu	37	2	238234360	238234360	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr2:238234360G>T	uc002vwl.2	-	43	9621	c.9336C>A	c.(9334-9336)TGC>TGA	p.C3112*	COL6A3_uc002vwo.2_Nonsense_Mutation_p.C2906*|COL6A3_uc010znj.1_Nonsense_Mutation_p.C2505*|COL6A3_uc002vwj.2_Nonsense_Mutation_p.C493*	NM_004369	NP_004360	P12111	CO6A3_HUMAN	alpha 3 type VI collagen isoform 1 precursor	3112	Nonhelical region.|BPTI/Kunitz inhibitor.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCGGCAACTTGCATATATCTT	0.418												
SIRPB2	284759	broad.mit.edu	37	20	1456815	1456815	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr20:1456815C>T	uc002wfg.2	-	5	1254	c.1026G>A	c.(1024-1026)GAG>GAA	p.E342E	SIRPB2_uc002wfh.3_Silent_p.E244E	NM_001122962	NP_001116434	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2 isoform 1	342	Cytoplasmic (Potential).					integral to membrane					0						TGACCCCTCACTCTTGACCCT	0.612												
ZNF341	84905	broad.mit.edu	37	20	32336741	32336741	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr20:32336741A>G	uc002wzy.2	+	4	372	c.352A>G	c.(352-354)ATC>GTC	p.I118V	ZNF341_uc002wzx.2_Missense_Mutation_p.I118V|ZNF341_uc010geq.2_Missense_Mutation_p.I28V|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						CTCCACATACATCACAGTGCC	0.448												
GDF5	8200	broad.mit.edu	37	20	34022548	34022548	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr20:34022548T>C	uc002xck.1	-	2	984	c.665A>G	c.(664-666)TAC>TGC	p.Y222C	GDF5_uc010gfc.1_Missense_Mutation_p.Y222C|uc002xcj.2_Missense_Mutation_p.V320A|GDF5_uc010zvc.1_Missense_Mutation_p.Y222C	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	222					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity				0	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GTCAAACACGTACCTCTGCTT	0.617												
NEURL2	140825	broad.mit.edu	37	20	44519401	44519401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr20:44519401C>T	uc002xqg.1	-	1	501	c.230G>A	c.(229-231)TGG>TAG	p.W77*	CTSA_uc002xqh.2_5'Flank|CTSA_uc002xqj.3_5'Flank|CTSA_uc002xqi.2_5'Flank|CTSA_uc010zxi.1_5'Flank|CTSA_uc002xqk.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	neuralized-like protein 2	77	NHR.				intracellular signal transduction						0		Myeloproliferative disorder(115;0.0122)				ATGTCCGCACCAGCCCAGCTC	0.677												
MMP9	4318	broad.mit.edu	37	20	44642407	44642407	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr20:44642407G>A	uc002xqz.2	+	10	1741	c.1722G>A	c.(1720-1722)CGG>CGA	p.R574R		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	574	Hemopexin-like 2.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTGAGGAGCGGCTCTCCAAGA	0.577											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ARFGEF2	10564	broad.mit.edu	37	20	47602105	47602105	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr20:47602105G>A	uc002xtx.3	+	16	2383	c.2231G>A	c.(2230-2232)CGA>CAA	p.R744Q	ARFGEF2_uc010zyf.1_Missense_Mutation_p.R37Q	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine	744	SEC7.				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(3)|upper_aerodigestive_tract(1)	4			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AAGATTGACCGATTAATGGAG	0.483												
CASS4	57091	broad.mit.edu	37	20	55033513	55033513	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr20:55033513C>T	uc002xxp.2	+	7	2296	c.2071C>T	c.(2071-2073)CAC>TAC	p.H691Y	CASS4_uc002xxr.2_Missense_Mutation_p.H691Y|CASS4_uc010zze.1_Missense_Mutation_p.H637Y|CASS4_uc010gio.2_Missense_Mutation_p.H254Y	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	691					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3						CAGCGCATTTCACGGCAGCCT	0.577												
GMEB2	26205	broad.mit.edu	37	20	62234354	62234354	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr20:62234354C>T	uc002yfp.1	-	3	800	c.321G>A	c.(319-321)AAG>AAA	p.K107K	GMEB2_uc002yfo.1_Silent_p.K29K|GMEB2_uc002yfq.1_Silent_p.K107K	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding	107	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)			GACACACAAACTTCCTCCAGA	0.542												
CLDN17	26285	broad.mit.edu	37	21	31538438	31538438	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr21:31538438G>T	uc011acv.1	-	1	498	c.498C>A	c.(496-498)TTC>TTA	p.F166L		NM_012131	NP_036263	P56750	CLD17_HUMAN	claudin 17	166	Helical; (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						CCCAGCCAAGGAAAAGTGCTG	0.502												
C21orf62	56245	broad.mit.edu	37	21	34166251	34166251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr21:34166251C>T	uc010glz.2	-	4	854	c.482G>A	c.(481-483)TGG>TAG	p.W161*	C21orf49_uc002yqs.2_Intron|C21orf49_uc002yqu.3_Intron|C21orf49_uc002yqt.2_Intron|C21orf62_uc011adt.1_Nonsense_Mutation_p.W161*|C21orf62_uc011adu.1_Nonsense_Mutation_p.W161*	NM_001162495	NP_001155967	Q9NYP8	CU062_HUMAN	hypothetical protein LOC56245	161										ovary(1)	1		Myeloproliferative disorder(46;0.0255)				ACATGGCTGCCAGCCTTTGTG	0.463												
MICAL3	57553	broad.mit.edu	37	22	18389633	18389633	+	Translation_Start_Site	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr22:18389633C>T	uc002zng.3	-	2	299	c.-54G>A	c.(-56--52)AGGTG>AGATG		MICAL3_uc011agl.1_Translation_Start_Site|MICAL3_uc002znh.2_Translation_Start_Site|MICAL3_uc002znk.1_Translation_Start_Site|MICAL3_uc002znl.1_Translation_Start_Site|MICAL3_uc010grf.2_Translation_Start_Site|MICAL3_uc011agm.1_Translation_Start_Site	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	microtubule associated monoxygenase, calponin							cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)		TGTGGGTCCACCTGACACTGT	0.498												
MKL1	57591	broad.mit.edu	37	22	40814951	40814951	+	Silent	SNP	G	G	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr22:40814951G>C	uc003ayv.1	-	9	1698	c.1491C>G	c.(1489-1491)CTC>CTG	p.L497L	MKL1_uc003ayw.1_Silent_p.L497L|MKL1_uc010gye.1_Silent_p.L497L|MKL1_uc010gyf.1_Silent_p.L447L	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia 1 protein	497					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						CCTCCTTCACGAGGATCTGCA	0.667			T	RBM15	acute megakaryocytic leukemia							
MEI1	150365	broad.mit.edu	37	22	42189872	42189872	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr22:42189872G>A	uc003baz.1	+	27	3410	c.3385G>A	c.(3385-3387)GAG>AAG	p.E1129K	WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.E515K|MEI1_uc003bbc.1_Missense_Mutation_p.E497K|MEI1_uc010gym.1_Missense_Mutation_p.E462K|MEI1_uc003bbd.1_Missense_Mutation_p.E372K|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA|MEI1_uc011apf.1_Missense_Mutation_p.E143K|MEI1_uc010gyo.1_Missense_Mutation_p.G84E|MEI1_uc003bbf.2_Missense_Mutation_p.E143K|MEI1_uc003bbg.2_Missense_Mutation_p.E143K	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	1129							binding			central_nervous_system(1)|skin(1)	2						TGGCTGCCTGGAGGCCTTGCT	0.393												
CNTN6	27255	broad.mit.edu	37	3	1427425	1427425	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:1427425A>C	uc003boz.2	+	20	2915	c.2648A>C	c.(2647-2649)AAC>ACC	p.N883T	CNTN6_uc011asj.1_Missense_Mutation_p.N811T|CNTN6_uc003bpa.2_Missense_Mutation_p.N883T	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	883	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGAGCTTACAACACTGCTGGG	0.443												
CAV3	859	broad.mit.edu	37	3	8787374	8787374	+	Missense_Mutation	SNP	G	G	A	rs28936686		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:8787374G>A	uc003bra.2	+	2	344	c.277G>A	c.(277-279)GCC>ACC	p.A93T	C3orf32_uc003bqz.2_5'Flank|CAV3_uc003brb.2_Missense_Mutation_p.A93T	NM_001234	NP_001225	P56539	CAV3_HUMAN	caveolin 3	93	Required for interaction with DAG1.				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			lung(1)|breast(1)	2						CTTCCTGTTCGCCTGCATCTC	0.582												
IRAK2	3656	broad.mit.edu	37	3	10276201	10276201	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:10276201C>T	uc003bve.1	+	11	1407	c.1331C>T	c.(1330-1332)ACG>ATG	p.T444M		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	444	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8						TCCAGGAAGACGGGCGTGGAG	0.607												
TMEM43	79188	broad.mit.edu	37	3	14176343	14176343	+	Silent	SNP	T	T	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:14176343T>A	uc003byk.2	+	8	911	c.657T>A	c.(655-657)ATT>ATA	p.I219I	TMEM43_uc003byl.1_Silent_p.I99I	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	219	Lumenal (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				ovary(1)	1						TGGACATCATTCGCCGTGGAG	0.547												
SLC25A20	788	broad.mit.edu	37	3	48916844	48916844	+	Missense_Mutation	SNP	C	C	T	rs150419695		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:48916844C>T	uc003cva.3	-	4	539	c.364G>A	c.(364-366)GTA>ATA	p.V122I	SLC25A20_uc011bbw.1_Missense_Mutation_p.V72I|SLC25A20_uc010hkj.2_Intron	NM_000387	NP_000378	O43772	MCAT_HUMAN	carnitine/acylcarnitine translocase	122	Helical; Name=3; (Potential).|Solcar 2.				carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity				0				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	GTGGTGAATACGCCAGATAAC	0.448												
PRKCD	5580	broad.mit.edu	37	3	53218979	53218979	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:53218979C>A	uc003dgl.2	+	10	1230	c.877C>A	c.(877-879)CAA>AAA	p.Q293K	PRKCD_uc003dgm.2_Missense_Mutation_p.Q293K|PRKCD_uc010hmt.1_Missense_Mutation_p.Q65K	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	293					activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GGCCTTGAACCAAGTCACCCA	0.607												
IMPG2	50939	broad.mit.edu	37	3	100976610	100976610	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:100976610C>T	uc003duq.1	-	10	1119	c.916G>A	c.(916-918)GAT>AAT	p.D306N	IMPG2_uc011bhe.1_Missense_Mutation_p.D169N	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	306	Extracellular (Potential).|SEA 1.				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						TAGTAAACATCTACGCCACTA	0.458												
C3orf30	152405	broad.mit.edu	37	3	118865646	118865646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:118865646C>T	uc003ecb.1	+	1	650	c.610C>T	c.(610-612)CGA>TGA	p.R204*	IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Nonsense_Mutation_p.R204*	NM_152539	NP_689752	Q96M34	CC030_HUMAN	hypothetical protein LOC152405	204										ovary(2)	2				GBM - Glioblastoma multiforme(114;0.222)		CGAGGCTGAGCGAAGAACTTC	0.517												
POLQ	10721	broad.mit.edu	37	3	121178916	121178916	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:121178916A>G	uc003eee.3	-	25	7262	c.7133T>C	c.(7132-7134)CTG>CCG	p.L2378P	POLQ_uc003eed.2_Missense_Mutation_p.L1550P	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	2378					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)		CTGCTGCCTCAGATCATCCCC	0.393								DNA_polymerases_(catalytic_subunits)				
AMOTL2	51421	broad.mit.edu	37	3	134090185	134090185	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:134090185G>A	uc003eqf.2	-	2	382	c.265C>T	c.(265-267)CTG>TTG	p.L89L	AMOTL2_uc003eqg.1_Silent_p.L31L|AMOTL2_uc003eqh.1_Silent_p.L31L	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	31										large_intestine(1)	1						ATGGCTAGCAGCGTGCGCGTC	0.652												
PLOD2	5352	broad.mit.edu	37	3	145790418	145790418	+	Missense_Mutation	SNP	G	G	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:145790418G>C	uc003evs.1	-	16	2221	c.1715C>G	c.(1714-1716)TCT>TGT	p.S572C	PLOD2_uc003evq.1_Missense_Mutation_p.S253C|PLOD2_uc011bnm.1_Missense_Mutation_p.S538C|PLOD2_uc003evr.1_Missense_Mutation_p.S593C	NM_000935	NP_000926	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	572					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)	GGCTTTTTCAGAAAATATGGG	0.308												
GPR171	29909	broad.mit.edu	37	3	150916462	150916462	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:150916462G>T	uc003eyq.3	-	3	952	c.712C>A	c.(712-714)CCT>ACT	p.P238T	MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_013308	NP_037440	O14626	GP171_HUMAN	G protein-coupled receptor 171	238	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled				0			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGTGGTAAGGAACAAAGCAT	0.413												
ZBBX	79740	broad.mit.edu	37	3	167023731	167023731	+	Silent	SNP	A	A	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:167023731A>C	uc003fep.2	-	17	1748	c.1425T>G	c.(1423-1425)ACT>ACG	p.T475T	ZBBX_uc011bpc.1_Silent_p.T475T|ZBBX_uc003feq.2_Silent_p.T446T	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	475						intracellular	zinc ion binding			ovary(2)	2						CTGTGTTTGAAGTTTCTGCTG	0.294												
ZBBX	79740	broad.mit.edu	37	3	167039914	167039914	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:167039914T>G	uc003fep.2	-	12	1297	c.974A>C	c.(973-975)AAA>ACA	p.K325T	ZBBX_uc011bpc.1_Missense_Mutation_p.K325T|ZBBX_uc003feq.2_Missense_Mutation_p.K296T	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	325						intracellular	zinc ion binding			ovary(2)	2						CCTCCTGTGTTTTTTAAGCCA	0.279												
DVL3	1857	broad.mit.edu	37	3	183882634	183882634	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:183882634G>A	uc003fms.2	+	5	654	c.514G>A	c.(514-516)GGT>AGT	p.G172S	DVL3_uc011bqw.1_Missense_Mutation_p.G172S|DVL3_uc003fmt.2_5'UTR|DVL3_uc003fmu.2_5'UTR	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	172					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AGAACCAGGGGGTTATGATAG	0.567												
C3orf21	152002	broad.mit.edu	37	3	194790800	194790800	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr3:194790800G>A	uc003fum.3	-	4	934	c.826C>T	c.(826-828)CGG>TGG	p.R276W	C3orf21_uc003ful.2_Missense_Mutation_p.R73W|C3orf21_uc003fuk.2_Missense_Mutation_p.R70W	NM_152531	NP_689744	Q8NBI6	CC021_HUMAN	hypothetical protein LOC152002	276						integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)		CCCCCAACCCGGGTCTGGGGG	0.672												
JAKMIP1	152789	broad.mit.edu	37	4	6064098	6064098	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr4:6064098C>T	uc003giu.3	-	10	1777	c.1501G>A	c.(1501-1503)GCC>ACC	p.A501T	JAKMIP1_uc010idb.1_Missense_Mutation_p.A501T|JAKMIP1_uc010idc.1_Missense_Mutation_p.A316T|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc011bwc.1_Missense_Mutation_p.A336T|JAKMIP1_uc003giv.3_Missense_Mutation_p.A501T|JAKMIP1_uc010ide.2_Missense_Mutation_p.A501T	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	501	Mediates interaction with TYK2 and GABBR1.|Potential.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						AGGGCGTAGGCGCGTTGCAGG	0.647												
KLB	152831	broad.mit.edu	37	4	39448186	39448186	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr4:39448186G>A	uc003gua.2	+	4	1937	c.1840G>A	c.(1840-1842)GCG>ACG	p.A614T	KLB_uc011byj.1_Missense_Mutation_p.A605T	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	klotho beta	614	Extracellular (Potential).|Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			skin(1)	1						CAACCTGTCCGCGGTGAACCG	0.552												
EXOC1	55763	broad.mit.edu	37	4	56736993	56736993	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr4:56736993G>A	uc003hbe.1	+	6	911	c.753G>A	c.(751-753)CAG>CAA	p.Q251Q	EXOC1_uc003hbf.1_Silent_p.Q251Q|EXOC1_uc003hbg.1_Silent_p.Q251Q	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	exocyst complex component 1 isoform 1	251	Potential.				exocytosis|protein transport	exocyst	protein binding			ovary(2)|skin(2)|lung(1)|central_nervous_system(1)	6	Glioma(25;0.08)|all_neural(26;0.101)					AAATGGATCAGATCTCTGAAA	0.353												
HELQ	113510	broad.mit.edu	37	4	84350749	84350749	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr4:84350749T>A	uc003hom.2	-	12	2625	c.2446A>T	c.(2446-2448)ACT>TCT	p.T816S	HELQ_uc010ikb.2_Missense_Mutation_p.T749S|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_RNA	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	DNA helicase HEL308	816							ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(1)|breast(1)|skin(1)	3						TTATAAATAGTGTCTTTTTGT	0.328								Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function				
SEC24D	9871	broad.mit.edu	37	4	119652578	119652578	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr4:119652578G>A	uc003ici.3	-	21	3033	c.2761C>T	c.(2761-2763)CTG>TTG	p.L921L	SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Silent_p.L922L|SEC24D_uc003ick.2_Silent_p.L83L	NM_014822	NP_055637	O94855	SC24D_HUMAN	Sec24-related protein D	921					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0						CCATTAGCCAGTAAGAATATT	0.463												
FAT1	2195	broad.mit.edu	37	4	187628514	187628514	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr4:187628514A>T	uc003izf.2	-	2	2656	c.2468T>A	c.(2467-2469)TTA>TAA	p.L823*	FAT1_uc010iso.1_Nonsense_Mutation_p.L823*	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	823	Extracellular (Potential).|Cadherin 7.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						GCTCTCCTGTAAAAACTCGGG	0.483										HNSCC(5;0.00058)		
PLEKHG4B	153478	broad.mit.edu	37	5	161981	161981	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:161981G>A	uc003jak.2	+	10	1553	c.1503G>A	c.(1501-1503)CTG>CTA	p.L501L		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G	501					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(2)	2			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAAGGGGCCTGAGCGCCGTGG	0.607												
IRX1	79192	broad.mit.edu	37	5	3599588	3599588	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:3599588A>G	uc003jde.2	+	2	578	c.526A>G	c.(526-528)ACC>GCC	p.T176A		NM_024337	NP_077313	P78414	IRX1_HUMAN	iroquois homeobox protein 1	176	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|pancreas(1)	2						GCAGGTCTCCACCTGGTTCGC	0.617												
FBXL7	23194	broad.mit.edu	37	5	15936756	15936756	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:15936756G>A	uc003jfn.1	+	4	1418	c.937G>A	c.(937-939)GAC>AAC	p.D313N		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	313	LRR 6.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CCGCCTGACCGACGAAGGCCT	0.667												
PDZD2	23037	broad.mit.edu	37	5	32090272	32090272	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:32090272C>A	uc003jhl.2	+	20	7106	c.6718C>A	c.(6718-6720)CCA>ACA	p.P2240T	PDZD2_uc003jhm.2_Missense_Mutation_p.P2240T	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	2240					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						GGGTCACCCCCCACACAGCCT	0.622												
EGFLAM	133584	broad.mit.edu	37	5	38427162	38427162	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:38427162C>A	uc003jlc.1	+	14	2186	c.1862C>A	c.(1861-1863)GCA>GAA	p.A621E	EGFLAM_uc003jlb.1_Missense_Mutation_p.A621E|EGFLAM_uc003jle.1_Missense_Mutation_p.A387E|EGFLAM_uc003jlf.1_5'UTR	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	621	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)					TCTTACGCTGCAACTCCCTGG	0.443												
PAIP1	10605	broad.mit.edu	37	5	43536983	43536983	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:43536983G>A	uc003job.2	-	6	1157	c.910C>T	c.(910-912)CTG>TTG	p.L304L	PAIP1_uc003joa.2_Silent_p.L225L|PAIP1_uc010ivp.2_Silent_p.L225L|PAIP1_uc010ivo.2_RNA|PAIP1_uc003joc.2_Silent_p.L192L	NM_006451	NP_006442	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	304	MIF4G.				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			ovary(1)	1	Lung NSC(6;2.07e-05)					AGGGCATTCAGCAATTCTCGA	0.328												
CMYA5	202333	broad.mit.edu	37	5	79057703	79057703	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:79057703G>A	uc003kgc.2	+	8	11402	c.11330G>A	c.(11329-11331)CGA>CAA	p.R3777Q		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3777	Fibronectin type-III 1.					perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAACCTGACCGATGCTATCAA	0.443												
RASA1	5921	broad.mit.edu	37	5	86659260	86659260	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:86659260A>T	uc003kiw.2	+	11	1667	c.1549A>T	c.(1549-1551)AAA>TAA	p.K517*	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.K340*|RASA1_uc011ctv.1_Nonsense_Mutation_p.K350*|RASA1_uc011ctw.1_Nonsense_Mutation_p.K351*|RASA1_uc010jaw.2_Nonsense_Mutation_p.K339*	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	517	PH.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TACCAAACCAAAAGGATTAAT	0.353												
SLC27A6	28965	broad.mit.edu	37	5	128302292	128302292	+	Silent	SNP	A	A	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:128302292A>G	uc003kuy.2	+	2	858	c.462A>G	c.(460-462)AGA>AGG	p.R154R	SLC27A6_uc003kuz.2_Silent_p.R154R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid	154					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding				0		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTGGGCCCAGAGCCCTAGTGG	0.547												
PCDHA3	56145	broad.mit.edu	37	5	140182706	140182706	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:140182706G>A	uc003lhf.2	+	1	1924	c.1924G>A	c.(1924-1926)GCC>ACC	p.A642T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.A642T	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	642	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(6)|skin(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGGTGGACGCCCCGCGCCA	0.677												
PCDHB12	56124	broad.mit.edu	37	5	140588663	140588663	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:140588663C>T	uc003liz.2	+	1	373	c.184C>T	c.(184-186)CGG>TGG	p.R62W	PCDHB12_uc011dak.1_Intron	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	62	Extracellular (Potential).|Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTCTTCGCGGGGGGCTCG	0.507												
PCDHGA6	56109	broad.mit.edu	37	5	140755048	140755048	+	Silent	SNP	C	C	T	rs140643836	by1000genomes	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:140755048C>T	uc003ljy.1	+	1	1398	c.1398C>T	c.(1396-1398)CCC>CCT	p.P466P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc011dau.1_Silent_p.P466P	NM_018919	NP_061742	Q9Y5G7	PCDG6_HUMAN	protocadherin gamma subfamily A, 6 isoform 1	466	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAACAACCCCAGGGGTGCCT	0.547												
PCDHGA8	9708	broad.mit.edu	37	5	140773250	140773250	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:140773250G>A	uc003lkd.1	+	1	1768	c.870G>A	c.(868-870)CCG>CCA	p.P290P	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Silent_p.P290P	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8 isoform 1	290	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAAACTCCGTTATTCCAGC	0.393												
GABRA1	2554	broad.mit.edu	37	5	161324205	161324205	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:161324205A>C	uc010jiw.2	+	11	1616	c.1148A>C	c.(1147-1149)GAC>GCC	p.D383A	GABRA1_uc010jix.2_Missense_Mutation_p.D383A|GABRA1_uc010jiy.2_Missense_Mutation_p.D383A|GABRA1_uc003lyx.3_Missense_Mutation_p.D383A|GABRA1_uc010jiz.2_Missense_Mutation_p.D383A|GABRA1_uc010jja.2_Missense_Mutation_p.D383A|GABRA1_uc010jjb.2_Missense_Mutation_p.D383A	NM_000806	NP_000797	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha	383	Cytoplasmic (Probable).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|pancreas(1)	3	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GCCAGGGGCGACCCGGGCTTA	0.453												
NSD1	64324	broad.mit.edu	37	5	176638327	176638327	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:176638327C>A	uc003mfr.3	+	5	3065	c.2927C>A	c.(2926-2928)GCC>GAC	p.A976D	NSD1_uc003mft.3_Missense_Mutation_p.A707D|NSD1_uc003mfs.1_Missense_Mutation_p.A873D|NSD1_uc011dfx.1_Missense_Mutation_p.A624D	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	976					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			ovary(2)|kidney(1)	3	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGAACTCCGCCAATCCTAGC	0.507			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
RIPK1	8737	broad.mit.edu	37	6	3078166	3078166	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:3078166C>T	uc010jni.2	+	3	550	c.318C>T	c.(316-318)GCC>GCT	p.A106A	RIPK1_uc003muv.3_5'UTR|RIPK1_uc003muw.3_Silent_p.A41A|RIPK1_uc011dhs.1_Silent_p.A106A|RIPK1_uc003mux.2_Silent_p.A106A	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine	106	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGCTGAAAGCCGAGGTAGAGA	0.602												
SLC17A1	6568	broad.mit.edu	37	6	25819768	25819768	+	Missense_Mutation	SNP	C	C	T	rs146175657	byFrequency	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:25819768C>T	uc003nfh.3	-	5	616	c.500G>A	c.(499-501)CGA>CAA	p.R167Q	SLC17A1_uc011djy.1_RNA|SLC17A1_uc010jqb.1_Missense_Mutation_p.R165Q|SLC17A1_uc010jqc.1_Missense_Mutation_p.R165Q	NM_005074	NP_005065	Q14916	NPT1_HUMAN	solute carrier family 17 (sodium phosphate),	167					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			ovary(3)|pancreas(1)	4						AAGTCGGCCTCGTTCCAGGGG	0.393												
ZNF76	7629	broad.mit.edu	37	6	35262953	35262953	+	Silent	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:35262953C>A	uc003oki.1	+	14	1846	c.1641C>A	c.(1639-1641)ATC>ATA	p.I547I	ZNF76_uc003okj.1_Silent_p.I492I|DEF6_uc003okk.2_5'Flank|DEF6_uc010jvs.2_5'Flank|DEF6_uc010jvt.2_5'Flank	NM_003427	NP_003418	P36508	ZNF76_HUMAN	zinc finger protein 76 (expressed in testis)	547					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						AGGAGGCCATCAATGTGGCCA	0.587												
XPO5	57510	broad.mit.edu	37	6	43543539	43543539	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:43543539C>T	uc003ovp.2	-	1	274	c.63G>A	c.(61-63)ATG>ATA	p.M21I	POLH_uc010jyu.2_5'Flank|POLH_uc011dvl.1_5'Flank|POLH_uc003ovq.3_5'Flank	NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	21	Necessary for interaction with Ran.				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AGTTGGGGTCCATCATGACCG	0.662												
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:45390466A>G	uc011dvx.1	+	3	405	c.195A>G	c.(193-195)CAA>CAG	p.Q65Q	RUNX2_uc011dvy.1_Silent_p.Q65Q|RUNX2_uc003oxt.2_Silent_p.Q51Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	runt-related transcription factor 2 isoform a	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3						agcagcagcaacagcagcagc	0.274												
LGSN	51557	broad.mit.edu	37	6	63990178	63990178	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:63990178G>A	uc003peh.2	-	4	1312	c.1278C>T	c.(1276-1278)GCC>GCT	p.A426A	LGSN_uc003pei.2_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	426					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)	CATCTAAGCCGGCAGCAACAG	0.453												
EYS	346007	broad.mit.edu	37	6	66063353	66063353	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:66063353G>T	uc011dxu.1	-	9	1995	c.1457C>A	c.(1456-1458)GCA>GAA	p.A486E	EYS_uc003peq.2_Missense_Mutation_p.A486E|EYS_uc003per.1_Missense_Mutation_p.A486E	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	486					response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6						TTTGTTACCTGCAAATCCCAA	0.338												
SLC17A5	26503	broad.mit.edu	37	6	74346391	74346391	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:74346391C>A	uc003phn.3	-	5	781	c.653G>T	c.(652-654)GGA>GTA	p.G218V	SLC17A5_uc010kax.2_5'Flank|SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Missense_Mutation_p.G87V	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	sialin	218	Helical; (Potential).				anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			skin(5)|central_nervous_system(1)	6						GCAAATTATTCCAGAAAGAGG	0.294												
QRSL1	55278	broad.mit.edu	37	6	107111010	107111010	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:107111010G>T	uc003prm.2	+	10	1432	c.1316G>T	c.(1315-1317)AGA>ATA	p.R439I		NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase	439					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		GAGGACAACAGAACCCGAAGT	0.423												
TCF21	6943	broad.mit.edu	37	6	134210769	134210769	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:134210769G>T	uc003qei.3	+	1	510	c.234G>T	c.(232-234)CAG>CAT	p.Q78H	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.Q78H	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	78					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity				0	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		AGGGGAAGCAGGTCCAGCGCA	0.701												
GRM1	2911	broad.mit.edu	37	6	146351157	146351157	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:146351157C>T	uc010khw.1	+	2	974	c.504C>T	c.(502-504)GCC>GCT	p.A168A	GRM1_uc010khu.1_Silent_p.A168A|GRM1_uc010khv.1_Silent_p.A168A|GRM1_uc003qll.2_Silent_p.A168A|GRM1_uc011edz.1_Silent_p.A168A|GRM1_uc011eea.1_Silent_p.A168A	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	168	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.A168V(1)		lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCTCTGTAGCCATTCAAGTGC	0.557												
LATS1	9113	broad.mit.edu	37	6	150005125	150005125	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:150005125G>A	uc003qmu.1	-	4	1648	c.1100C>T	c.(1099-1101)ACT>ATT	p.T367I	LATS1_uc010kif.1_Missense_Mutation_p.T262I|LATS1_uc003qmv.1_Missense_Mutation_p.T367I|LATS1_uc003qmw.2_Missense_Mutation_p.T367I|LATS1_uc010kig.1_Missense_Mutation_p.T262I	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	367					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(5)|central_nervous_system(1)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CCGATTCACAGTGCCAGCAGG	0.468												
PAPOLB	56903	broad.mit.edu	37	7	4900521	4900521	+	Silent	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:4900521G>T	uc003snk.2	-	1	1105	c.921C>A	c.(919-921)CCC>CCA	p.P307P	RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	306					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			ovary(1)	1		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		ACCTATCACTGGGATTTACTC	0.448												
DNAH11	8701	broad.mit.edu	37	7	21598515	21598515	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:21598515G>A	uc003svc.2	+	3	622	c.591G>A	c.(589-591)AAG>AAA	p.K197K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	197	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						TCATGAAAAAGAAGATGTATA	0.358									Kartagener_syndrome			
PKD1L1	168507	broad.mit.edu	37	7	47869075	47869075	+	Missense_Mutation	SNP	A	A	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:47869075A>G	uc003tny.1	-	44	6683	c.6683T>C	c.(6682-6684)CTC>CCC	p.L2228P	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2228	Cytoplasmic (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						AGAGAAGGGGAGGCGAGTCCA	0.428												
EGFR	1956	broad.mit.edu	37	7	55223604	55223604	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:55223604G>A	uc003tqk.2	+	8	1217	c.971G>A	c.(970-972)CGC>CAC	p.R324H	EGFR_uc003tqh.2_Missense_Mutation_p.R324H|EGFR_uc003tqi.2_Missense_Mutation_p.R324H|EGFR_uc003tqj.2_Missense_Mutation_p.R324H|EGFR_uc010kzg.1_Missense_Mutation_p.R279H|EGFR_uc011kco.1_Missense_Mutation_p.R271H|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	324	Extracellular (Potential).				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R324L(2)		lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GACGGCGTCCGCAAGTGTAAG	0.602		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
RABGEF1	27342	broad.mit.edu	37	7	66103848	66103848	+	Translation_Start_Site	SNP	T	T	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:66103848T>A	uc003tvf.2	+	3	491	c.-703T>A	c.(-705--701)ACTTG>ACATG		KCTD7_uc003tvd.3_Missense_Mutation_p.L167M|KCTD7_uc003tve.2_Missense_Mutation_p.L167M	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1						endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			ovary(1)	1						TATAGACCACTTGGAGCGGAT	0.562												
WBSCR17	64409	broad.mit.edu	37	7	71036345	71036345	+	Silent	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:71036345C>A	uc003tvy.2	+	6	1038	c.1038C>A	c.(1036-1038)GGC>GGA	p.G346G	WBSCR17_uc003tvz.2_Silent_p.G45G	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	UDP-GalNAc:polypeptide	346	Catalytic subdomain B.|Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGGATCCTGGCATGGATGTAT	0.502												
STEAP2	261729	broad.mit.edu	37	7	89861667	89861667	+	Missense_Mutation	SNP	T	T	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:89861667T>G	uc003ujz.2	+	5	1595	c.1202T>G	c.(1201-1203)GTC>GGC	p.V401G	STEAP2_uc010len.2_Missense_Mutation_p.V401G|STEAP2_uc003uka.2_Missense_Mutation_p.V401G|STEAP2_uc003ukb.2_Missense_Mutation_p.V401G|STEAP2_uc003ukc.2_Intron|STEAP2_uc003ukd.2_Missense_Mutation_p.V401G	NM_152999	NP_694544	Q8NFT2	STEA2_HUMAN	six transmembrane epithelial antigen of the	401	Ferric oxidoreductase.|Helical; (Potential).				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			ovary(2)	2	all_hematologic(106;0.112)					CTTGGATATGTCGCTCTGCTC	0.353												
GAL3ST4	79690	broad.mit.edu	37	7	99757923	99757923	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:99757923G>T	uc003utt.2	-	3	2106	c.1089C>A	c.(1087-1089)AAC>AAA	p.N363K	C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.N363K|GAL3ST4_uc010lgq.2_Missense_Mutation_p.N301K	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	363	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTCCAGGTTGTTCCAGGCTC	0.622												
FEZF1	389549	broad.mit.edu	37	7	121944205	121944205	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:121944205C>T	uc003vkd.2	-	1	361	c.287G>A	c.(286-288)CGG>CAG	p.R96Q	FEZF1_uc003vkc.2_Missense_Mutation_p.R96Q|uc010lko.1_RNA|uc003vkf.1_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1 isoform 1	96					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|breast(1)	3						ACTGGCCTTCCGCGGCTCGGA	0.567												
GRM8	2918	broad.mit.edu	37	7	126882944	126882944	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:126882944C>T	uc003vlr.2	-	1	626	c.315G>A	c.(313-315)ACG>ACA	p.T105T	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.T105T|GRM8_uc010lkz.1_RNA	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	105	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCCTAGAGCACGTGTCGAGGA	0.483										HNSCC(24;0.065)		
MRPS33	51650	broad.mit.edu	37	7	140706300	140706300	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:140706300C>T	uc003vwd.3	-	3	407	c.251G>A	c.(250-252)CGA>CAA	p.R84Q	MRPS33_uc003vwe.3_Missense_Mutation_p.R84Q	NM_016071	NP_057155	Q9Y291	RT33_HUMAN	mitochondrial ribosomal protein S33	84					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome				0	Melanoma(164;0.00956)					CTTCTTTAGTCGTTTTTGCTC	0.373												
NOS3	4846	broad.mit.edu	37	7	150703991	150703991	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:150703991G>A	uc003wif.2	+	16	2131	c.1835G>A	c.(1834-1836)CGC>CAC	p.R612H	NOS3_uc011kuy.1_Missense_Mutation_p.R406H	NM_000603	NP_000594	P29474	NOS3_HUMAN	nitric oxide synthase 3 isoform 1	612	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			central_nervous_system(5)|large_intestine(2)|skin(1)	8	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TATAAGATCCGCTTCAACAGC	0.607												
RBM33	155435	broad.mit.edu	37	7	155530820	155530820	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr7:155530820C>T	uc010lqk.1	+	11	1828	c.1460C>T	c.(1459-1461)CCG>CTG	p.P487L	RBM33_uc011kvv.1_Missense_Mutation_p.P296L	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	487	Pro-rich.						nucleotide binding|RNA binding			ovary(1)	1	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CCACCACCACCGCCTCCTACC	0.493												
MYOM2	9172	broad.mit.edu	37	8	2054185	2054185	+	Missense_Mutation	SNP	A	A	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:2054185A>T	uc003wpx.3	+	22	3026	c.2888A>T	c.(2887-2889)GAT>GTT	p.D963V	MYOM2_uc011kwi.1_Missense_Mutation_p.D388V	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	963	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACCGTGGGGGATCAGTAAGTC	0.443												
RP1L1	94137	broad.mit.edu	37	8	10469956	10469956	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:10469956C>T	uc003wtc.2	-	4	1881	c.1652G>A	c.(1651-1653)CGG>CAG	p.R551Q		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	551					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GCCCTGGGGCCGCCCACCCCA	0.677												
C8orf79	57604	broad.mit.edu	37	8	12878856	12878856	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:12878856G>T	uc010lsq.2	+	5	1160	c.668G>T	c.(667-669)AGA>ATA	p.R223I	C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Missense_Mutation_p.R136I|C8orf79_uc010lsr.2_Missense_Mutation_p.R97I	NM_020844	NP_065895	Q9P272	K1456_HUMAN	hypothetical protein LOC57604 isoform 1	223							methyltransferase activity				0						GCTATGGCAAGAACCTGTTTT	0.428												
LGI3	203190	broad.mit.edu	37	8	22005847	22005847	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:22005847C>A	uc003xav.2	-	8	1762	c.1473G>T	c.(1471-1473)CAG>CAT	p.Q491H	LGI3_uc010ltu.2_Missense_Mutation_p.Q467H	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	491	EAR 6.				exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				ovary(1)	1				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		ACTGGTAGATCTGGGTGAAGG	0.652												
SORBS3	10174	broad.mit.edu	37	8	22414348	22414348	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:22414348G>A	uc003xbv.2	+	4	681	c.341G>A	c.(340-342)CGG>CAG	p.R114Q	SORBS3_uc011kzk.1_RNA	NM_005775	NP_005766	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3 isoform 1	114					muscle contraction|positive regulation of stress fiber assembly	cytoskeleton|cytosol|nucleus	protein binding|structural constituent of cytoskeleton|vinculin binding				0		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGCAAGCGTCGGGACAAGCGC	0.662												
SCARA3	51435	broad.mit.edu	37	8	27516465	27516465	+	Missense_Mutation	SNP	C	C	T	rs147727919		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:27516465C>T	uc003xga.1	+	5	919	c.778C>T	c.(778-780)CGG>TGG	p.R260W	SCARA3_uc003xgb.1_Missense_Mutation_p.R260W	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3 isoform 1	260	Extracellular (Potential).				response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			skin(2)|ovary(1)|breast(1)	4		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		GAACTACACACGGCTCTTCAG	0.622												
SNAI2	6591	broad.mit.edu	37	8	49832925	49832925	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:49832925G>T	uc003xqp.2	-	2	319	c.155C>A	c.(154-156)GCA>GAA	p.A52E		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	52					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GGGGCTGTATGCTCCTGAGCT	0.527												
MYBL1	4603	broad.mit.edu	37	8	67492545	67492545	+	Silent	SNP	A	A	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:67492545A>C	uc003xwj.2	-	9	1331	c.924T>G	c.(922-924)TCT>TCG	p.S308S	MYBL1_uc003xwl.2_Silent_p.S308S|MYBL1_uc003xwk.2_Silent_p.S307S	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	v-myb myeloblastosis viral oncogene homolog	308	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)	3			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TTAGAGTATTAGACATGTTAT	0.388												
SULF1	23213	broad.mit.edu	37	8	70540421	70540421	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:70540421G>A	uc010lza.1	+	18	2775	c.2058G>A	c.(2056-2058)GAG>GAA	p.E686E	SULF1_uc003xyd.2_Silent_p.E686E|SULF1_uc003xye.2_Silent_p.E686E|SULF1_uc003xyf.2_Silent_p.E686E|SULF1_uc003xyg.2_Silent_p.E686E|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_5'UTR	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	686					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ACAATAAAGAGAAAGGTGTAA	0.353												
ZFPM2	23414	broad.mit.edu	37	8	106813641	106813641	+	Missense_Mutation	SNP	A	A	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:106813641A>C	uc003ymd.2	+	8	1354	c.1331A>C	c.(1330-1332)AAG>ACG	p.K444T	ZFPM2_uc011lhs.1_Missense_Mutation_p.K175T|uc003yme.1_5'Flank	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	zinc finger protein, multitype 2	444					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGTGAGAAAAAGACTCAGCTC	0.458												
ANGPT1	284	broad.mit.edu	37	8	108359227	108359227	+	Silent	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:108359227G>T	uc003ymn.2	-	2	864	c.396C>A	c.(394-396)ACC>ACA	p.T132T	ANGPT1_uc003ymo.2_Silent_p.T132T	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	angiopoietin 1 precursor	132					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			ovary(3)|skin(3)|upper_aerodigestive_tract(1)	7	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AGAGGAGGCTGGTTCCTATCT	0.502												
TRPS1	7227	broad.mit.edu	37	8	116427108	116427108	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:116427108G>A	uc003ynz.2	-	6	3448	c.2989C>T	c.(2989-2991)CCA>TCA	p.P997S	TRPS1_uc011lhy.1_Missense_Mutation_p.P1001S|TRPS1_uc003yny.2_Missense_Mutation_p.P1010S|TRPS1_uc010mcy.2_Missense_Mutation_p.P997S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	997	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTGGGGAGTGGAATTTCTCTC	0.483									Langer-Giedion_syndrome			
MTSS1	9788	broad.mit.edu	37	8	125565369	125565369	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:125565369T>C	uc003yrk.2	-	14	2666	c.2132A>G	c.(2131-2133)CAG>CGG	p.Q711R	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_Missense_Mutation_p.Q360R|MTSS1_uc011lin.1_Missense_Mutation_p.Q485R|MTSS1_uc011lio.1_Missense_Mutation_p.Q601R|MTSS1_uc003yri.2_Missense_Mutation_p.Q429R|MTSS1_uc003yrj.2_Missense_Mutation_p.Q686R|MTSS1_uc003yrl.2_Missense_Mutation_p.Q715R	NM_014751	NP_055566	O43312	MTSS1_HUMAN	metastasis suppressor 1	711	Pro-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			ovary(1)	1	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTCTGGAATCTGGCCTGGGGA	0.567												
TRAPPC9	83696	broad.mit.edu	37	8	141294065	141294065	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:141294065C>T	uc003yvj.2	-	14	2171	c.2037G>A	c.(2035-2037)CCG>CCA	p.P679P	TRAPPC9_uc003yvh.2_Silent_p.P777P|TRAPPC9_uc010mel.1_Silent_p.P100P|TRAPPC9_uc003yvi.1_Silent_p.P670P	NM_001160372	NP_001153844	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9 isoform	679					cell differentiation	endoplasmic reticulum|Golgi apparatus				skin(2)	2						TTTTTATTCCCGGCAGGTTAT	0.522												
GPAA1	8733	broad.mit.edu	37	8	145139196	145139196	+	Missense_Mutation	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr8:145139196G>T	uc003zax.2	+	6	886	c.776G>T	c.(775-777)TGC>TTC	p.C259F	GPAA1_uc003zav.1_Missense_Mutation_p.C137F|GPAA1_uc003zaw.1_Missense_Mutation_p.C199F	NM_003801	NP_003792	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment	259	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding				0	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGACCTTCTGCCAGAAAGGG	0.627												
ELAVL2	1993	broad.mit.edu	37	9	23692860	23692860	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr9:23692860C>T	uc003zpu.2	-	7	1050	c.775G>A	c.(775-777)GGA>AGA	p.G259R	ELAVL2_uc003zps.2_Missense_Mutation_p.G246R|ELAVL2_uc003zpt.2_Missense_Mutation_p.G246R|ELAVL2_uc003zpv.2_Missense_Mutation_p.G259R|ELAVL2_uc003zpw.2_Missense_Mutation_p.G246R	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	ELAV (embryonic lethal, abnormal vision,	259					regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			ovary(2)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CTGGTCATTCCGTCAATGGTC	0.423												
LINGO2	158038	broad.mit.edu	37	9	27949498	27949498	+	Missense_Mutation	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr9:27949498C>T	uc003zqu.1	-	2	1366	c.1172G>A	c.(1171-1173)AGG>AAG	p.R391K	LINGO2_uc010mjf.1_Missense_Mutation_p.R391K|LINGO2_uc003zqv.1_Missense_Mutation_p.R391K	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	391	LRRCT.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CTTGAAAGACCTCTCACGGAT	0.502												
ZNF658	26149	broad.mit.edu	37	9	40773269	40773269	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr9:40773269T>C	uc004abs.2	-	5	2158	c.2006A>G	c.(2005-2007)TAC>TGC	p.Y669C	ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.Y669C	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	zinc finger protein 658	669	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGCTGAATTGTAGGTGAAAGA	0.418												
DAPK1	1612	broad.mit.edu	37	9	90266561	90266561	+	Missense_Mutation	SNP	T	T	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr9:90266561T>A	uc004apc.2	+	17	1884	c.1746T>A	c.(1744-1746)CAT>CAA	p.H582Q	DAPK1_uc004apd.2_Missense_Mutation_p.H582Q|DAPK1_uc011ltg.1_Missense_Mutation_p.H582Q|DAPK1_uc011lth.1_Missense_Mutation_p.H319Q|DAPK1_uc004apf.1_Missense_Mutation_p.H136Q	NM_004938	NP_004929	P53355	DAPK1_HUMAN	death-associated protein kinase 1	582	ANK 7.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			ovary(1)|breast(1)	2						CTCCCCTCCATGTGGCATGTA	0.498									Chronic_Lymphocytic_Leukemia_Familial_Clustering_of			
FBP2	8789	broad.mit.edu	37	9	97333768	97333768	+	Silent	SNP	G	G	A	rs144416702		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr9:97333768G>A	uc004auv.2	-	4	610	c.543C>T	c.(541-543)GGC>GGT	p.G181G	uc004auu.2_Intron	NM_003837	NP_003828	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	181					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding				0		Acute lymphoblastic leukemia(62;0.136)				AGAGGTCCACGCCTTGCCCTG	0.562												
OR1L3	26735	broad.mit.edu	37	9	125437502	125437502	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr9:125437502C>A	uc011lzb.1	+	1	94	c.94C>A	c.(94-96)CTT>ATT	p.L32I		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L,	32	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1						TGCCCTCTTTCTTATCATATA	0.443												
CIZ1	25792	broad.mit.edu	37	9	130940034	130940034	+	Silent	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr9:130940034G>A	uc004btt.2	-	10	1792	c.1629C>T	c.(1627-1629)GGC>GGT	p.G543G	CIZ1_uc004btr.2_Silent_p.G515G|CIZ1_uc004bts.2_Silent_p.G514G|CIZ1_uc011maq.1_Silent_p.G482G|CIZ1_uc004btu.2_Silent_p.G463G|CIZ1_uc011mar.1_Silent_p.G442G|CIZ1_uc011mas.1_Silent_p.G573G|CIZ1_uc004btw.2_Silent_p.G487G|CIZ1_uc004btv.2_Silent_p.G543G	NM_001131016	NP_001124488	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1 isoform	543						nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4						AGCCCCCGGCGCCCCATACCT	0.577												
MXRA5	25878	broad.mit.edu	37	X	3229022	3229022	+	Missense_Mutation	SNP	C	C	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chrX:3229022C>A	uc004crg.3	-	7	7379	c.7222G>T	c.(7222-7224)GCC>TCC	p.A2408S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2408	Ig-like C2-type 8.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAACGCTGGGCTTTCTGAATA	0.537												
KLF8	11279	broad.mit.edu	37	X	56295828	56295828	+	Missense_Mutation	SNP	T	T	C			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chrX:56295828T>C	uc004dur.2	+	4	1610	c.664T>C	c.(664-666)TCC>CCC	p.S222P	KLF8_uc010nkg.2_3'UTR|KLF8_uc011mop.1_Missense_Mutation_p.S222P|KLF8_uc010nkh.2_RNA	NM_007250	NP_009181	O95600	KLF8_HUMAN	Kruppel-like factor 8 isoform 1	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGACCCCACCTCCATGTCTCC	0.473												
TCEAL6	158931	broad.mit.edu	37	X	101396191	101396191	+	Missense_Mutation	SNP	G	G	A			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chrX:101396191G>A	uc004eiq.2	-	3	274	c.113C>T	c.(112-114)GCG>GTG	p.A38V		NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	38	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.A38T(1)		ovary(1)	1						cttcccctccgcgtctggctt	0.144												
TBC1D8B	54885	broad.mit.edu	37	X	106069425	106069425	+	Silent	SNP	C	C	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chrX:106069425C>T	uc004emo.2	+	6	1158	c.993C>T	c.(991-993)AGC>AGT	p.S331S	MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Silent_p.S331S|TBC1D8B_uc004emn.2_Silent_p.S331S	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	331	GRAM 2.					intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4						GCTTTGCTAGCCAAGATGGCA	0.353												
COL4A6	1288	broad.mit.edu	37	X	107400416	107400416	+	Silent	SNP	G	G	T			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chrX:107400416G>T	uc004enw.3	-	45	4993	c.4890C>A	c.(4888-4890)GCC>GCA	p.A1630A	COL4A6_uc004env.3_Silent_p.A1629A|COL4A6_uc011msn.1_Silent_p.A1605A|COL4A6_uc010npk.2_Silent_p.A1572A|COL4A6_uc011msm.1_Silent_p.A164A|COL4A6_uc010npj.2_Silent_p.A109A	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	type IV alpha 6 collagen isoform A precursor	1630	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			ovary(6)|urinary_tract(1)|large_intestine(1)	8						TGAAAGGAGTGGCCCGAAAGT	0.567									Alport_syndrome_with_Diffuse_Leiomyomatosis			
TKTL1	8277	broad.mit.edu	37	X	153524217	153524217	+	Missense_Mutation	SNP	C	C	T	rs141543964		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chrX:153524217C>T	uc004fkg.2	+	1	191	c.5C>T	c.(4-6)GCG>GTG	p.A2V	TEX28_uc004fke.2_5'Flank|TEX28_uc004fkf.2_5'Flank|TEX28_uc010nut.1_5'Flank|TKTL1_uc011mzl.1_Missense_Mutation_p.A2V|TKTL1_uc011mzm.1_Missense_Mutation_p.A2V	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	2					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGACTAATGGCGGATGCTGAG	0.597												
ANKRD30A	91074	broad.mit.edu	37	10	37506754	37506754	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr10:37506754delC	uc001iza.1	+	33	3146	c.3047delC	c.(3046-3048)GCTfs	p.A1016fs		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1072	Potential.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						CTTGAACAGGCTCTCAGAATA	0.294												
CC2D1A	54862	broad.mit.edu	37	19	14037367	14037368	+	Frame_Shift_Ins	INS	-	-	TCATC			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:14037367_14037368insTCATC	uc002mxo.2	+	18	2277_2278	c.1978_1979insTCATC	c.(1978-1980)TTCfs	p.F660fs	CC2D1A_uc002mxp.2_Frame_Shift_Ins_p.F660fs|CC2D1A_uc010dzh.2_Frame_Shift_Ins_p.F229fs|CC2D1A_uc002mxq.1_Frame_Shift_Ins_p.F305fs	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	660	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CATGCTCCTCTTCATCGTGAAG	0.535												
SLC2A12	154091	broad.mit.edu	37	6	134350098	134350099	+	Frame_Shift_Ins	INS	-	-	A	rs148451864	by1000genomes	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:134350098_134350099insA	uc003qem.1	-	2	1035_1036	c.864_865insT	c.(862-867)TTTGTAfs	p.F288fs		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose	288_289	Helical; (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			ovary(1)	1	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GTGATTTGTACAAAAAATACTA	0.411												
USP48	84196	broad.mit.edu	37	1	22007310	22007312	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr1:22007309_22007311CCTT>C	uc010odq.2	-	25	3349_3351	c.3111_3113AAGG>G	c.(3109-3114)gaaggg>gaGg	p.G1038del	USP48_uc001bfa.3_In_Frame_Del_p.G512del|USP48_uc001bfb.3_In_Frame_Del_p.G1026del|USP48_uc009vqc.3_In_Frame_Del_p.G960del|USP48_uc001bfc.3_In_Frame_Del_p.G974del	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN	Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA.	1026					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		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)		ACCTTTAAACCCTTCTTCTGGCA	0.291												
FAT2	2196	broad.mit.edu	37	5	150905452	150905453	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr5:150905451_150905452A>AG	uc003lue.4	-	16	10396_10397	c.10383_10384T>CT	c.(10381-10386)ccctacfs	p.P3461fs	FAT2_uc003lud.4_Frame_Shift_Ins_p.P154fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3461	Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.P3461T(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGAAACGAGTAGGGGGGGCCAT	0.584												
SLC2A12	154091	broad.mit.edu	37	6	134350099	134350100	+	Frame_Shift_Ins	INS	-	-	A	rs148451864	by1000genomes	TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr6:134350098_134350099C>CA	uc003qem.1	-	1	1035_1036	c.864_865G>TG	c.(862-867)tttgtafs	p.F288fs		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	288						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		GTGATTTGTACAAAAAATACTA	0.411												
TMEM87A	25963	broad.mit.edu	37	15	42564289	42564291	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr15:42564288_42564290AGAG>A	uc021sjr.1	-	1	335_337	c.176_178CTCT>T	c.(175-180)ctcttc>cTtc	p.F60del	GANC_uc001zph.3_5'Flank|GANC_uc001zpi.3_5'Flank|TMEM87A_uc001zpf.4_Intron|TMEM87A_uc010bcu.1_Intron|TMEM87A_uc001zpg.2_In_Frame_Del_p.F60del|GANC_uc010ude.1_5'Flank	NM_015497	NP_056312	Q8NBN3	TM87A_HUMAN	Homo sapiens transmembrane protein 87A (TMEM87A), transcript variant 1, mRNA.	60						integral to membrane				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		GTATTTCTGAAGAGGATCTTTCC	0.276												
CC2D1A	54862	broad.mit.edu	37	19	14037368	14037369	+	Frame_Shift_Ins	INS	-	-	TCATC			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:14037367_14037368T>TTCATC	uc002mxo.2	+	17	2277_2278	c.1978_1979T>TTCATC	c.(1978-1980)ttcfs	p.F660fs	CC2D1A_uc002mxp.2_Frame_Shift_Ins_p.F660fs|CC2D1A_uc010dzh.2_Frame_Shift_Ins_p.F229fs|CC2D1A_uc002mxq.1_Frame_Shift_Ins_p.F305fs	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	660	C2.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CATGCTCCTCTTCATCGTGAAG	0.634												
ZNF536	9745	broad.mit.edu	37	19	31039309	31039309	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:31039308_31039308AG>A	uc002nsu.1	+	3	2920	c.2782_2782AG>A	c.(2782-2784)agtfs	p.S928fs	ZNF536_uc010edd.1_Frame_Shift_Del_p.S928fs	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TTTTGTCCTCAGTTCCTTGAA	0.507												
NUP62	23636	broad.mit.edu	37	19	50411805	50411806	+	Frame_Shift_Del	DEL	GG	GG	-	rs143078249		TCGA-FP-7829-01A-11D-2053-08	TCGA-FP-7829-10A-01D-2053-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27986151-673b-48a6-91de-e53a8fc0b5f7	0711b9a6-40cf-4b14-b63e-b6e4ff5f9069	g.chr19:50411804_50411805TGG>T	uc002prb.3	-	1	1504_1505	c.1260_1261CCA>A	c.(1258-1263)accatcfs	p.T420fs	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Frame_Shift_Del_p.T420fs|NUP62_uc002pqy.3_Frame_Shift_Del_p.T420fs|NUP62_uc002pra.3_Frame_Shift_Del_p.T420fs|NUP62_uc002pqz.3_Frame_Shift_Del_p.T420fs|NUP62_uc002prc.3_Frame_Shift_Del_p.T344fs|NUP62_uc021uya.1_Frame_Shift_Del_p.T420fs	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	420					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	SH2 domain binding|chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding	p.G419W(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGCAGGTAGATGGTCCCGCTCT	0.579