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
ACAP3	116983	broad.mit.edu	37	1	1229825	1229825	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:1229825G>A	uc001aeb.2	-	21	2170	c.2096C>T	c.(2095-2097)GCG>GTG	p.A699V	ACAP3_uc001ady.2_Missense_Mutation_p.A429V|ACAP3_uc001aea.2_Missense_Mutation_p.A624V	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH	699					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding				0						CTCATCCTCCGCGTCCGCCCA	0.736												
CPSF3L	54973	broad.mit.edu	37	1	1248918	1248918	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:1248918G>A	uc001aee.1	-	10	1070	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	CPSF3L_uc009vjy.1_RNA|CPSF3L_uc001aef.1_Missense_Mutation_p.R344W|CPSF3L_uc009vjz.1_Missense_Mutation_p.R316W|CPSF3L_uc010nyj.1_Missense_Mutation_p.R309W|CPSF3L_uc001aeg.1_Missense_Mutation_p.R214W|CPSF3L_uc001aeh.1_Missense_Mutation_p.R237W|CPSF3L_uc001aei.1_Missense_Mutation_p.R240W|CPSF3L_uc001aej.1_Missense_Mutation_p.R165W|CPSF3L_uc001aek.1_Missense_Mutation_p.R80W	NM_017871	NP_060341	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor	338						Golgi apparatus|nucleus	hydrolase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GCCCATTTCCGGAAGATCTGC	0.602												
TAS1R3	83756	broad.mit.edu	37	1	1268468	1268468	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:1268468G>T	uc010nyk.1	+	4	1443	c.1443G>T	c.(1441-1443)GAG>GAT	p.E481D		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3 precursor	481	Extracellular (Potential).				detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TCAGGACAGAGCGCCTGAAGA	0.667												
TMEM52	339456	broad.mit.edu	37	1	1849798	1849798	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:1849798G>A	uc001aij.2	-	4	279	c.243C>T	c.(241-243)CTC>CTT	p.L81L	TMEM52_uc001aii.2_Silent_p.L66L	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	transmembrane protein 52 precursor	81						integral to membrane					0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTGCTTCCGGAGGCAGCAGA	0.622												
HES3	390992	broad.mit.edu	37	1	6304439	6304439	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:6304439G>A	uc009vly.1	+	2	69	c.14G>A	c.(13-15)CGC>CAC	p.R5H		NM_001024598	NP_001019769	Q5TGS1	HES3_HUMAN	hairy and enhancer of split 3	5	Basic motif.				transcription, DNA-dependent	nucleus	DNA binding				0	Ovarian(185;0.0634)	all_cancers(23;2.48e-32)|all_epithelial(116;1.14e-17)|all_lung(118;2.85e-06)|all_neural(13;3.68e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;3.77e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.2e-37)|GBM - Glioblastoma multiforme(13;3.2e-29)|OV - Ovarian serous cystadenocarcinoma(86;2.52e-19)|Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00308)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.241)		GAGAAAAAGCGCCGGGCACGC	0.622												
CAMTA1	23261	broad.mit.edu	37	1	7797391	7797391	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:7797391C>A	uc001aoi.2	+	15	3626	c.3419C>A	c.(3418-3420)CCC>CAC	p.P1140H	CAMTA1_uc010nzv.1_Missense_Mutation_p.P227H|CAMTA1_uc001aok.3_Missense_Mutation_p.P183H|CAMTA1_uc001aoj.2_Missense_Mutation_p.P96H	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ATCTCGATTCCCGACTCTCTA	0.572												
UTS2	10911	broad.mit.edu	37	1	7910965	7910965	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:7910965G>A	uc001aor.2	-	2	162	c.121C>T	c.(121-123)CGC>TGC	p.R41C	UTS2_uc001aoq.2_Missense_Mutation_p.R41C|UTS2_uc001aos.2_Missense_Mutation_p.R56C	NM_006786	NP_006777	O95399	UTS2_HUMAN	urotensin 2 isoform b preproprotein	41					muscle contraction|regulation of blood pressure|synaptic transmission	extracellular space	hormone activity				0	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;1.38e-20)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.26e-71)|GBM - Glioblastoma multiforme(8;5.15e-36)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000386)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|STAD - Stomach adenocarcinoma(132;0.000951)|READ - Rectum adenocarcinoma(331;0.0642)		GGAGTTAAGCGCGCGTCTTCA	0.458												
H6PD	9563	broad.mit.edu	37	1	9305527	9305527	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:9305527T>C	uc001apt.2	+	2	807	c.534T>C	c.(532-534)CAT>CAC	p.H178H		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	178	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding				0	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CCTTTGGCCATGACCACTTCT	0.592												
CORT	1325	broad.mit.edu	37	1	10510133	10510133	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:10510133G>A	uc001ari.2	+	1	163	c.3G>A	c.(1-3)ATG>ATA	p.M1I	APITD1_uc001arf.2_Intron|APITD1_uc001arg.2_Intron	NM_001302	NP_001293	O00230	CORT_HUMAN	cortistatin preproprotein	Error:Variant_position_missing_in_O00230_after_alignment					inhibition of adenylate cyclase activity by G-protein signaling pathway|synaptic transmission	extracellular region|soluble fraction	G-protein-coupled receptor binding|neuropeptide hormone activity				0	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		CGTTAGACATGTATAGACACA	0.512												
VPS13D	55187	broad.mit.edu	37	1	12337668	12337668	+	Silent	SNP	G	G	A	rs137909177		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:12337668G>A	uc001atv.2	+	19	4164	c.4023G>A	c.(4021-4023)TCG>TCA	p.S1341S	VPS13D_uc001atw.2_Silent_p.S1341S|VPS13D_uc001atx.2_Silent_p.S529S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1341					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGATGGTATCGCTCTTTGAAA	0.438												
SPEN	23013	broad.mit.edu	37	1	16262530	16262530	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:16262530T>C	uc001axk.1	+	11	9999	c.9795T>C	c.(9793-9795)GGT>GGC	p.G3265G	SPEN_uc010obp.1_Silent_p.G3224G	NM_015001	NP_055816	Q96T58	MINT_HUMAN	spen homolog, transcriptional regulator	3265	Pro-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ccccTCATGGTGAGGCCCGTA	0.393												
PADI3	51702	broad.mit.edu	37	1	17597615	17597615	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:17597615C>T	uc001bai.2	+	9	1029	c.989C>T	c.(988-990)GCC>GTC	p.A330V		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	330					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(1)|breast(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCCAGGAAGGCCGGCTGCAAG	0.642												
ARHGEF10L	55160	broad.mit.edu	37	1	17975156	17975156	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:17975156G>T	uc001ban.2	+	22	2539	c.2380G>T	c.(2380-2382)GCA>TCA	p.A794S	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.A755S|ARHGEF10L_uc001bao.2_Missense_Mutation_p.A755S|ARHGEF10L_uc001bap.2_Missense_Mutation_p.A750S|ARHGEF10L_uc001baq.2_Missense_Mutation_p.A555S|ARHGEF10L_uc010ocs.1_Missense_Mutation_p.A567S|ARHGEF10L_uc001bar.2_Missense_Mutation_p.A497S|ARHGEF10L_uc009vpf.2_RNA	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF)	794					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)|ovary(1)|pancreas(1)	3		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTCCTCCCGGGCACTCAGCCT	0.647												
AKR7A2	8574	broad.mit.edu	37	1	19632540	19632540	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:19632540C>T	uc001bbw.2	-	6	912	c.890G>A	c.(889-891)CGG>CAG	p.R297Q	AKR7A2_uc001bbx.2_Missense_Mutation_p.R262Q	NM_003689	NP_003680	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2	297					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTACATCCACCGGAGGGCAGC	0.627												
ECE1	1889	broad.mit.edu	37	1	21562343	21562343	+	Silent	SNP	G	G	A	rs28368018	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:21562343G>A	uc001bek.2	-	13	1641	c.1566C>T	c.(1564-1566)GAC>GAT	p.D522D	ECE1_uc001bem.2_Silent_p.D506D|ECE1_uc001bej.2_Silent_p.D510D|ECE1_uc001bei.2_Silent_p.D519D|ECE1_uc010odl.1_Silent_p.D522D|ECE1_uc009vqa.1_Silent_p.D522D	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	522	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGCTACTCACGTCATTAAACA	0.552												
RAP1GAP	5909	broad.mit.edu	37	1	21926004	21926004	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:21926004C>T	uc001bex.2	-	21	2017	c.1759G>A	c.(1759-1761)GGA>AGA	p.G587R	RAP1GAP_uc001bev.2_Missense_Mutation_p.G672R|RAP1GAP_uc001bew.2_Missense_Mutation_p.G651R|RAP1GAP_uc001bey.2_Missense_Mutation_p.G613R	NM_002885	NP_002876	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein isoform c	587					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GTGTCCTCTCCGTCCACACCC	0.657												
HSPG2	3339	broad.mit.edu	37	1	22173013	22173013	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:22173013G>A	uc001bfj.2	-	63	8284	c.8244C>T	c.(8242-8244)TGC>TGT	p.C2748C	HSPG2_uc009vqd.2_Silent_p.C2749C	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2748	Ig-like C2-type 13.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGGGGACCACGCAGTTCAGAT	0.627												
FAM54B	56181	broad.mit.edu	37	1	26152890	26152890	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:26152890A>G	uc001bkq.3	+	4	437	c.227A>G	c.(226-228)TAT>TGT	p.Y76C	FAM54B_uc001bkr.3_Missense_Mutation_p.Y76C|FAM54B_uc010oet.1_Missense_Mutation_p.Y109C|FAM54B_uc009vrz.2_Missense_Mutation_p.Y73C|LOC646471_uc010oeu.1_5'Flank|FAM54B_uc001bks.3_Missense_Mutation_p.Y76C|FAM54B_uc001bkt.3_Missense_Mutation_p.Y76C|FAM54B_uc001bku.3_Missense_Mutation_p.Y73C|FAM54B_uc001bkv.3_Translation_Start_Site	NM_001099625	NP_001093095	Q9H019	FA54B_HUMAN	hypothetical protein LOC56181 isoform a	76										pancreas(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGAGACATATGCCCGGGTC	0.552												
PAQR7	164091	broad.mit.edu	37	1	26189692	26189692	+	Silent	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:26189692G>T	uc001bkx.2	-	2	1306	c.639C>A	c.(637-639)GCC>GCA	p.A213A		NM_178422	NP_848509	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	213	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)	3		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGTGCGTAGGCCAGGACGG	0.577												
PIGV	55650	broad.mit.edu	37	1	27117357	27117357	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:27117357C>T	uc001bmz.2	+	2	382	c.51C>T	c.(49-51)AGC>AGT	p.S17S	PIGV_uc001bmy.2_5'UTR|PIGV_uc009vso.2_Silent_p.S17S|PIGV_uc010ofg.1_5'UTR|PIGV_uc001bna.2_Silent_p.S17S	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan class V	17	Helical; (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			ovary(1)	1		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TTGCAGTCAGCTGCCGTATCC	0.542												
NR0B2	8431	broad.mit.edu	37	1	27240396	27240396	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:27240396C>T	uc001bnf.2	-	1	172	c.36G>A	c.(34-36)CAG>CAA	p.Q12Q		NM_021969	NP_068804	Q15466	NR0B2_HUMAN	short heterodimer partner	12					cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity				0		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TTGCAGCTCCCTGGCATGGGC	0.622												
C1orf172	126695	broad.mit.edu	37	1	27277975	27277975	+	Silent	SNP	G	G	A	rs142079202		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:27277975G>A	uc001bni.1	-	2	986	c.897C>T	c.(895-897)CGC>CGT	p.R299R		NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	hypothetical protein LOC126695	299										large_intestine(1)|ovary(1)	2		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		GAATGATGCCGCGTACCAGGC	0.602												
MECR	51102	broad.mit.edu	37	1	29522757	29522757	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:29522757T>C	uc001brq.1	-	8	880	c.844A>G	c.(844-846)ATG>GTG	p.M282V	MECR_uc001brp.1_Missense_Mutation_p.M206V|MECR_uc001brr.1_Missense_Mutation_p.M206V|MECR_uc001brs.1_RNA	NM_016011	NP_057095	Q9BV79	MECR_HUMAN	trans-2-enoyl-CoA reductase, mitochondrial	282					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			ovary(1)	1		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TAGGTTACCATGGTTCCTCCA	0.592												
CSMD2	114784	broad.mit.edu	37	1	34011768	34011768	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:34011768C>T	uc001bxn.1	-	56	8566	c.8537G>A	c.(8536-8538)CGT>CAT	p.R2846H	CSMD2_uc001bxm.1_Missense_Mutation_p.R2990H	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2846	Extracellular (Potential).|Sushi 20.					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTCCCCCAAACGGATGCCATG	0.567												
EIF2C1	26523	broad.mit.edu	37	1	36359342	36359342	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:36359342C>T	uc001bzl.2	+	5	793	c.580C>T	c.(580-582)CGC>TGC	p.R194C	EIF2C1_uc001bzk.2_Missense_Mutation_p.R119C|EIF2C1_uc009vuy.2_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	eukaryotic translation initiation factor 2C, 1	194					negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding			ovary(2)|skin(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGGGGGTGGGCGCGAGGTCTG	0.632												
NDUFS5	4725	broad.mit.edu	37	1	39500070	39500070	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:39500070C>T	uc001ccx.2	+	3	294	c.223C>T	c.(223-225)CGT>TGT	p.R75C	NDUFS5_uc001ccy.2_Missense_Mutation_p.R75C	NM_004552	NP_004543	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5,	75					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)		NADH(DB00157)	ACAGATGAGACGTGCAGGTAC	0.453												
MACF1	23499	broad.mit.edu	37	1	39753194	39753194	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:39753194G>A	uc010ois.1	+	16	1965	c.1760G>A	c.(1759-1761)CGA>CAA	p.R587Q	MACF1_uc001cda.1_Missense_Mutation_p.R495Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	587					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCAATCTCCGATTTGTGTAT	0.468												
SMAP2	64744	broad.mit.edu	37	1	40881993	40881993	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:40881993C>T	uc001cfj.2	+	8	892	c.827C>T	c.(826-828)ACG>ATG	p.T276M	SMAP2_uc010ojh.1_Missense_Mutation_p.T276M|SMAP2_uc001cfk.2_Missense_Mutation_p.T246M|SMAP2_uc010oji.1_Missense_Mutation_p.T193M|SMAP2_uc010ojj.1_Missense_Mutation_p.T92M	NM_022733	NP_073570	Q8WU79	SMAP2_HUMAN	small ArfGAP2	276					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding				0	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GGATCCCAGACGCCTCAAATG	0.458												
TIE1	7075	broad.mit.edu	37	1	43773592	43773592	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:43773592T>C	uc001ciu.2	+	7	1118	c.1039T>C	c.(1039-1041)TCA>CCA	p.S347P	TIE1_uc010okd.1_Missense_Mutation_p.S347P|TIE1_uc010oke.1_Missense_Mutation_p.S302P|TIE1_uc009vwq.2_Missense_Mutation_p.S303P|TIE1_uc010okf.1_Intron|TIE1_uc010okg.1_Intron|TIE1_uc010okc.1_Intron	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	347	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)				CTGTGAGAAGTCAGGTATAAG	0.547												
KDM4A	9682	broad.mit.edu	37	1	44118953	44118953	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:44118953C>T	uc001cjx.2	+	2	273	c.107C>T	c.(106-108)TCC>TTC	p.S36F	KDM4A_uc010oki.1_Missense_Mutation_p.S36F	NM_014663	NP_055478	O75164	KDM4A_HUMAN	jumonji domain containing 2A	36	JmjN.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1						TACATTGAATCCCAAGGAGCT	0.433												
TOE1	114034	broad.mit.edu	37	1	45808537	45808537	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:45808537C>T	uc009vxq.2	+	7	1358	c.775C>T	c.(775-777)CGG>TGG	p.R259W	MUTYH_uc001cnf.2_5'Flank|MUTYH_uc009vxo.2_5'Flank|MUTYH_uc001cng.2_5'Flank|MUTYH_uc001cnj.2_5'Flank|MUTYH_uc001cni.2_5'Flank|MUTYH_uc001cnh.2_5'Flank|MUTYH_uc001cno.2_5'Flank|MUTYH_uc001cnk.2_5'Flank|MUTYH_uc010oll.1_5'Flank|MUTYH_uc001cnm.2_5'Flank|MUTYH_uc001cnl.2_5'Flank|MUTYH_uc009vxp.2_5'Flank|MUTYH_uc001cnn.2_5'Flank|TOE1_uc001cnq.3_RNA|TOE1_uc010olm.1_Missense_Mutation_p.R179W|TOE1_uc010oln.1_3'UTR|TOE1_uc001cnr.3_RNA	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	259						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)					TGGGAAGCAGCGGGCAGCTGG	0.423												
RAD54L	8438	broad.mit.edu	37	1	46739833	46739833	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:46739833G>A	uc009vye.2	+	16	1748	c.1634G>A	c.(1633-1635)GGC>GAC	p.G545D	RAD54L_uc001cpl.2_Missense_Mutation_p.G545D|RAD54L_uc001cpm.1_Missense_Mutation_p.G328D	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	545	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CGCCTGGATGGCACGATGTCC	0.423								Direct_reversal_of_damage|Homologous_recombination				
RAD54L	8438	broad.mit.edu	37	1	46740228	46740228	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:46740228A>G	uc009vye.2	+	17	1822	c.1708A>G	c.(1708-1710)ATG>GTG	p.M570V	RAD54L_uc001cpl.2_Missense_Mutation_p.M570V|RAD54L_uc001cpm.1_Missense_Mutation_p.M353V	NM_001142548	NP_001136020	Q92698	RAD54_HUMAN	RAD54-like protein	570	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CTTTGTCTTCATGCTGAGCAG	0.527								Direct_reversal_of_damage|Homologous_recombination				
NRD1	4898	broad.mit.edu	37	1	52254957	52254957	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:52254957G>A	uc001ctc.3	-	33	3933	c.3611C>T	c.(3610-3612)GCT>GTT	p.A1204V	NRD1_uc009vzb.2_Missense_Mutation_p.A899V|NRD1_uc001ctd.3_Missense_Mutation_p.A1136V	NM_002525	NP_002516	O43847	NRDC_HUMAN	nardilysin isoform a	1135				DCIIPITDIRAFTTTLNLLPYHKIVK -> SVSSPLLISGL SQQHSTFSPTIK (in Ref. 1).	cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding				0						TGTTGTGAAAGCCCTGATATC	0.413												
KTI12	112970	broad.mit.edu	37	1	52498938	52498938	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:52498938C>T	uc001ctj.1	-	1	535	c.496G>A	c.(496-498)GCC>ACC	p.A166T	TXNDC12_uc001cti.2_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated	166							ATP binding			central_nervous_system(2)	2						TCGGCCTGGGCACTTCCATTT	0.612												
LRP8	7804	broad.mit.edu	37	1	53715091	53715091	+	Silent	SNP	C	C	T	rs145707126		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:53715091C>T	uc001cvi.1	-	18	2956	c.2814G>A	c.(2812-2814)CCG>CCA	p.P938P	LRP8_uc001cvh.1_Intron|LRP8_uc001cvk.1_Silent_p.P768P|LRP8_uc001cvj.1_Intron|LRP8_uc001cvl.1_Intron	NM_004631	NP_004622	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein	938	Cytoplasmic (Potential).				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity				0						GAGGGTTCTTCGGGAGTTGGT	0.363												
LRRC42	115353	broad.mit.edu	37	1	54428072	54428072	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:54428072G>T	uc001cwj.1	+	6	1117	c.917G>T	c.(916-918)TGG>TTG	p.W306L	LRRC42_uc001cwl.1_Missense_Mutation_p.W306L|LRRC42_uc001cwk.1_Missense_Mutation_p.W306L|LRRC42_uc009vzm.1_Missense_Mutation_p.W306L	NM_052940	NP_443172	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	306											0						ACAGAGGGCTGGGCTGACCAG	0.433												
DEPDC1	55635	broad.mit.edu	37	1	68947796	68947796	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:68947796G>A	uc001dem.3	-	8	1812	c.1695C>T	c.(1693-1695)TGC>TGT	p.C565C	DEPDC1_uc001dej.3_5'UTR|DEPDC1_uc001dek.3_Intron|DEPDC1_uc001del.3_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	DEP domain containing 1 isoform a	565					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding				0				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TTGTACTTTTGCAGAGTCTTT	0.383												
C1orf173	127254	broad.mit.edu	37	1	75055401	75055401	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:75055401T>G	uc001dgg.2	-	12	2309	c.2090A>C	c.(2089-2091)AAG>ACG	p.K697T	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.K491T	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	697	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						ATCCTTTTCCTTTTCTTCTGC	0.458												
PIGK	10026	broad.mit.edu	37	1	77635038	77635038	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:77635038A>G	uc001dhk.2	-	4	327	c.282T>C	c.(280-282)CCT>CCC	p.P94P	PIGK_uc010orj.1_Intron|PIGK_uc009wbx.2_Intron|PIGK_uc001dhl.1_Silent_p.P94P	NM_005482	NP_005473	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	94	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding			ovary(2)|pancreas(1)	3						TGGGATTTCTAGGATTACAGG	0.333												
C1orf52	148423	broad.mit.edu	37	1	85725277	85725277	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:85725277C>T	uc001dkv.2	-	1	79	c.40G>A	c.(40-42)GCA>ACA	p.A14T	C1orf52_uc001dkw.2_RNA|C1orf52_uc001dkx.3_RNA|C1orf52_uc009wcn.2_Missense_Mutation_p.A14T	NM_198077	NP_932343	Q8N6N3	CA052_HUMAN	hypothetical protein LOC148423	14										ovary(1)	1				all cancers(265;0.0105)|Epithelial(280;0.0293)		CTCCCGTATGCCGCAAAATAG	0.652											OREG0013580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GTF2B	2959	broad.mit.edu	37	1	89325946	89325946	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:89325946G>A	uc001dmo.3	-	4	401	c.282C>T	c.(280-282)GAC>GAT	p.D94D	GTF2B_uc009wcw.1_RNA	NM_001514	NP_001505	Q00403	TF2B_HUMAN	general transcription factor IIB	94					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	thyroid hormone receptor binding|translation initiation factor activity|zinc ion binding			large_intestine(1)|ovary(1)	2		Lung NSC(277;0.123)		all cancers(265;0.0131)|Epithelial(280;0.0255)		TGCCAAATTCGTCAAAACTTG	0.353												
CCBL2	56267	broad.mit.edu	37	1	89408751	89408751	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:89408751T>C	uc001dmp.2	-	13	1616	c.1239A>G	c.(1237-1239)TCA>TCG	p.S413S	CCBL2_uc001dmq.2_Silent_p.S379S|CCBL2_uc001dmr.2_Silent_p.S249S	NM_001008661	NP_001008661	Q6YP21	KAT3_HUMAN	kynurenine aminotransferase III isoform 1	413					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			ovary(1)	1		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TACAGAATGCTGAAACGGGGA	0.308												
TGFBR3	7049	broad.mit.edu	37	1	92161320	92161320	+	Silent	SNP	C	C	A	rs142345668		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:92161320C>A	uc001doh.2	-	16	2812	c.2346G>T	c.(2344-2346)CTG>CTT	p.L782L	TGFBR3_uc009wde.2_Silent_p.L477L|TGFBR3_uc010osy.1_Silent_p.L740L|TGFBR3_uc001doi.2_Silent_p.L781L|TGFBR3_uc001doj.2_Silent_p.L781L	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	782	Extracellular (Potential).				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			ovary(3)	3		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TTAGGGTGTCCAGACCATGGA	0.448												
MTF2	22823	broad.mit.edu	37	1	93583921	93583921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:93583921C>T	uc009wdj.2	+	7	944	c.652C>T	c.(652-654)CAG>TAG	p.Q218*	MTF2_uc001dph.2_Nonsense_Mutation_p.Q116*|MTF2_uc010oth.1_Nonsense_Mutation_p.Q116*|MTF2_uc009wdk.2_Nonsense_Mutation_p.Q218*|MTF2_uc001dpi.3_5'UTR|MTF2_uc010oti.1_Nonsense_Mutation_p.Q116*|MTF2_uc001dpj.3_Nonsense_Mutation_p.Q116*|MTF2_uc001dpl.3_Nonsense_Mutation_p.Q116*	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	218	PHD-type 2.					nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GAAGATGCTACAGTGCTGCAA	0.338												
CCDC18	343099	broad.mit.edu	37	1	93659237	93659237	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:93659237G>A	uc001dpq.2	+	6	1156	c.988G>A	c.(988-990)GAG>AAG	p.E330K		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	212	Potential.									ovary(2)|breast(2)|pancreas(1)	5		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GAGTTTGCAGGAGTCCAAAGA	0.323												
ABCA4	24	broad.mit.edu	37	1	94466610	94466610	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:94466610C>T	uc001dqh.2	-	46	6438	c.6334G>A	c.(6334-6336)GTC>ATC	p.V2112I		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	2112	ABC transporter 2.|Cytoplasmic.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTCACGATGACGTTCCACAGC	0.637												
SLC35A3	23443	broad.mit.edu	37	1	100480964	100480964	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:100480964A>G	uc001dsp.1	+	6	938	c.741A>G	c.(739-741)GTA>GTG	p.V247V	SLC35A3_uc001dsq.1_Silent_p.V247V|SLC35A3_uc009wdy.1_Intron|SLC35A3_uc001dsr.1_Silent_p.V289V|SLC35A3_uc001dss.1_Silent_p.V166V	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 member 3A	247	Helical; (Potential).				UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity				0		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		CCTGGATAGTAGTTGTTCTTC	0.318												
SARS	6301	broad.mit.edu	37	1	109756660	109756660	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:109756660C>A	uc001dwu.1	+	1	121	c.46C>A	c.(46-48)CCA>ACA	p.P16T	SARS_uc001dwt.1_Missense_Mutation_p.P16T|SARS_uc001dwv.1_Missense_Mutation_p.P16T|SARS_uc001dww.1_5'UTR|SARS_uc001dwx.1_Missense_Mutation_p.P16T|SARS_uc009wfa.1_Missense_Mutation_p.P16T|SARS_uc001dwy.1_5'UTR	NM_006513	NP_006504	P49591	SYSC_HUMAN	seryl-tRNA synthetase	16					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)	1		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	AGGAGGGGACCCAGCCCTCAT	0.597												
AMPD2	271	broad.mit.edu	37	1	110173646	110173646	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:110173646A>G	uc009wfh.1	+	19	3054	c.2512A>G	c.(2512-2514)ATC>GTC	p.I838V	AMPD2_uc001dyb.1_Missense_Mutation_p.I757V|AMPD2_uc001dyc.1_Missense_Mutation_p.I838V|AMPD2_uc010ovr.1_Missense_Mutation_p.I763V|AMPD2_uc001dyd.1_Missense_Mutation_p.I719V|AMPD2_uc001dye.1_Missense_Mutation_p.I107V	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2 (isoform L)	838					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|breast(1)	3		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGTGCCAGACATCCGCGTGGG	0.617												
CSF1	1435	broad.mit.edu	37	1	110459942	110459942	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:110459942G>A	uc001dyu.2	+	4	666	c.253G>A	c.(253-255)GCA>ACA	p.A85T	CSF1_uc001dyt.2_Missense_Mutation_p.A85T|CSF1_uc001dyv.3_Missense_Mutation_p.A85T|CSF1_uc001dyw.3_Missense_Mutation_p.A85T	NM_172212	NP_757351	P09603	CSF1_HUMAN	colony stimulating factor 1 isoform a precursor	85	Lumenal (Potential).				cell proliferation|developmental process involved in reproduction|macrophage differentiation|monocyte activation|osteoclast differentiation|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of cellular protein metabolic process|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of monocyte differentiation|positive regulation of mononuclear cell proliferation|positive regulation of protein kinase activity	extracellular space|integral to membrane|perinuclear region of cytoplasm|plasma membrane|receptor complex	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding|protein homodimerization activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Acute lymphoblastic leukemia(138;0.204)		Lung(183;0.0238)|Colorectal(144;0.112)|all cancers(265;0.117)|Epithelial(280;0.127)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCTTAAGAAGGCATTTCTCCT	0.522												
AHCYL1	10768	broad.mit.edu	37	1	110561200	110561200	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:110561200G>A	uc001dyx.2	+	13	1612	c.1245G>A	c.(1243-1245)ACG>ACA	p.T415T	AHCYL1_uc010ovw.1_Silent_p.T368T|AHCYL1_uc001dyy.2_Silent_p.T368T|AHCYL1_uc010ovx.1_Silent_p.T368T	NM_006621	NP_006612	O43865	SAHH2_HUMAN	S-adenosylhomocysteine hydrolase-like 1	415	NAD binding (By similarity).				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			ovary(1)	1		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CGGAGCTGACGTGGGAGCGAG	0.512												
KCNA10	3744	broad.mit.edu	37	1	111060821	111060821	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:111060821C>A	uc001dzt.1	-	1	977	c.589G>T	c.(589-591)GAC>TAC	p.D197Y		NM_005549	NP_005540	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related	197						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			ovary(3)|large_intestine(1)	4		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CGGTGGATGTCATTGGTGGGT	0.537												
KCND3	3752	broad.mit.edu	37	1	112525054	112525054	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:112525054G>A	uc001ebu.1	-	2	775	c.295C>T	c.(295-297)CGC>TGC	p.R99C	KCND3_uc001ebv.1_Missense_Mutation_p.R99C	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	99	Cytoplasmic (Potential).					sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			ovary(2)|large_intestine(1)	3		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TTCCCCGTGCGGTAGAAGTTG	0.612												
PTGFRN	5738	broad.mit.edu	37	1	117487714	117487714	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:117487714G>T	uc001egv.1	+	3	969	c.832G>T	c.(832-834)GTT>TTT	p.V278F		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor negative regulator	278	Ig-like C2-type 3.|Extracellular (Potential).					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			liver(1)	1	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CCAGCCATCAGGTGAGCTGGA	0.522												
MAN1A2	10905	broad.mit.edu	37	1	117910865	117910865	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:117910865G>A	uc001ehd.1	+	1	781	c.60G>A	c.(58-60)GGG>GGA	p.G20G	MAN1A2_uc009whg.1_5'UTR	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	20	Cytoplasmic (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		TGAACCTGGGGCCGCCTTCCT	0.493												
HMGCS2	3158	broad.mit.edu	37	1	120301892	120301892	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:120301892G>A	uc001eid.2	-	4	750	c.699C>T	c.(697-699)ACC>ACT	p.T233T	HMGCS2_uc010oxj.1_Silent_p.T191T|HMGCS2_uc001eie.2_Silent_p.T141T	NM_005518	NP_005509	P54868	HMCS2_HUMAN	hydroxymethylglutaryl-CoA synthase 2 isoform 1	233					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			ovary(2)	2	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TCTCCATATGGGTTCCCCTCA	0.473												
NOTCH2	4853	broad.mit.edu	37	1	120458270	120458270	+	Missense_Mutation	SNP	G	G	A	rs75831573	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:120458270G>A	uc001eik.2	-	34	7331	c.7075C>T	c.(7075-7077)CCC>TCC	p.P2359S		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	2359	Cytoplasmic (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGCTGGGGCATCATGGCA	0.607			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome			
NOTCH2	4853	broad.mit.edu	37	1	120461946	120461946	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:120461946C>A	uc001eik.2	-	31	6026	c.5770G>T	c.(5770-5772)GGT>TGT	p.G1924C		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	notch 2 preproprotein	1924	ANK 3.|Cytoplasmic (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGAAGACACCTTGGGCATCA	0.383			N|F|Mis		marginal zone lymphoma|DLBCL				Alagille_Syndrome			
ECM1	1893	broad.mit.edu	37	1	150483519	150483519	+	Missense_Mutation	SNP	C	C	T	rs150625690		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:150483519C>T	uc001eus.2	+	6	752	c.553C>T	c.(553-555)CGT>TGT	p.R185C	ECM1_uc010pce.1_Missense_Mutation_p.R114C|ECM1_uc010pcf.1_Missense_Mutation_p.R107C|ECM1_uc001eut.2_Missense_Mutation_p.R185C|ECM1_uc001euu.2_Missense_Mutation_p.R214C|ECM1_uc001euv.2_Missense_Mutation_p.R212C|ECM1_uc009wlu.2_5'UTR	NM_004425	NP_004416	Q16610	ECM1_HUMAN	extracellular matrix protein 1 isoform 1	185	2 X approximate repeats.|1.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCTTCCTAACCGTCAGCATGT	0.587												
SETDB1	9869	broad.mit.edu	37	1	150936529	150936529	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:150936529G>A	uc001evu.2	+	21	3918	c.3728G>A	c.(3727-3729)CGC>CAC	p.R1243H	SETDB1_uc001evv.2_Missense_Mutation_p.R1243H	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	1243	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATGATCTTCGCTTCCCCTGG	0.527												
PIP5K1A	8394	broad.mit.edu	37	1	151210663	151210663	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:151210663G>A	uc001exj.2	+	10	1603	c.1151G>A	c.(1150-1152)GGT>GAT	p.G384D	PIP5K1A_uc001exi.2_Missense_Mutation_p.G371D|PIP5K1A_uc010pcu.1_Intron|PIP5K1A_uc001exk.2_Missense_Mutation_p.G371D|PIP5K1A_uc010pcv.1_Missense_Mutation_p.G141D	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type	384	PIPK.				phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			ovary(1)|central_nervous_system(1)|skin(1)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCCAGTATGGGTGGCATCCCT	0.453												
TUFT1	7286	broad.mit.edu	37	1	151546755	151546755	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:151546755A>G	uc001eyl.2	+	8	666	c.604A>G	c.(604-606)AGC>GGC	p.S202G	TUFT1_uc001eym.2_Missense_Mutation_p.S177G|TUFT1_uc010pdf.1_Missense_Mutation_p.S221G|TUFT1_uc010pdg.1_Missense_Mutation_p.S150G	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	tuftelin 1 isoform 1	202	Potential.				bone mineralization|odontogenesis	cytoplasm|extracellular region	structural constituent of tooth enamel				0	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGTCACACTCAGCCGGTACCA	0.498											OREG0003906	type=REGULATORY REGION|Gene=TUFT1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
HRNR	388697	broad.mit.edu	37	1	152187511	152187511	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:152187511G>A	uc001ezt.1	-	3	6670	c.6594C>T	c.(6592-6594)CAC>CAT	p.H2198H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	2198	24.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGTTGGCCGTGGCTGGAGG	0.632												
KPRP	448834	broad.mit.edu	37	1	152733782	152733782	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:152733782A>G	uc001fal.1	+	2	1776	c.1718A>G	c.(1717-1719)GAA>GGA	p.E573G		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	573						cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGAAAGGGGAAGCAAAGAGT	0.502												
NUP210L	91181	broad.mit.edu	37	1	154127427	154127427	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:154127427G>A	uc001fdw.2	-	1	166	c.94C>T	c.(94-96)CGT>TGT	p.R32C	NUP210L_uc010peh.1_Missense_Mutation_p.R32C	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	32						integral to membrane				skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGGGTCCCACGCAAAACCAGA	0.607												
AQP10	89872	broad.mit.edu	37	1	154295464	154295464	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:154295464A>G	uc001feu.2	+	3	279	c.239A>G	c.(238-240)CAC>CGC	p.H80R	AQP10_uc001fev.2_Missense_Mutation_p.H80R|ATP8B2_uc001few.2_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	80	Cytoplasmic (Potential).				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)	1	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAAGGGGCCCACCTGAATCCA	0.353												
PBXIP1	57326	broad.mit.edu	37	1	154918618	154918618	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:154918618C>T	uc001ffr.2	-	10	1591	c.1532G>A	c.(1531-1533)AGG>AAG	p.R511K	PBXIP1_uc001ffs.2_Missense_Mutation_p.R482K|PBXIP1_uc010pep.1_Missense_Mutation_p.R356K	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein	511					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			large_intestine(1)	1	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGCTGGCTCCCTGTCCTCCTG	0.602												
DCST2	127579	broad.mit.edu	37	1	155005160	155005160	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:155005160T>C	uc001fgm.2	-	3	604	c.524A>G	c.(523-525)GAT>GGT	p.D175G	DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	175	Cytoplasmic (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TTTCACACCATCCATGATTGA	0.428												
GBA	2629	broad.mit.edu	37	1	155208382	155208382	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:155208382A>G	uc001fjh.2	-	5	664	c.514T>C	c.(514-516)TAC>CAC	p.Y172H	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.Y59H|GBA_uc010pfx.1_Missense_Mutation_p.Y123H|GBA_uc001fji.2_Missense_Mutation_p.Y172H|GBA_uc001fjj.2_Missense_Mutation_p.Y172H|GBA_uc001fjk.2_Missense_Mutation_p.Y172H|GBA_uc001fjl.2_Missense_Mutation_p.Y172H|GBA_uc010pfy.1_Missense_Mutation_p.Y85H|GBA_uc009wqk.1_Missense_Mutation_p.Y85H	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	172					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			ovary(1)|skin(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GCATAGGTGTAGGTGCGGATG	0.488									Gaucher_disease_type_I			
PKLR	5313	broad.mit.edu	37	1	155263028	155263028	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:155263028G>A	uc001fkb.3	-	9	1415	c.1376C>T	c.(1375-1377)GCT>GTT	p.A459V	RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.A428V	NM_000298	NP_000289	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC isoform 1	459			A -> V (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			skin(4)|ovary(1)	5	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGCCTCCACAGCACCAATGGC	0.607												
GON4L	54856	broad.mit.edu	37	1	155736194	155736194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:155736194G>A	uc001flz.2	-	21	3167	c.3070C>T	c.(3070-3072)CGA>TGA	p.R1024*	GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Nonsense_Mutation_p.R1024*|GON4L_uc009wrh.1_Nonsense_Mutation_p.R1024*|GON4L_uc001fma.1_Nonsense_Mutation_p.R1024*|GON4L_uc001fmb.3_Nonsense_Mutation_p.R220*|GON4L_uc001fmc.2_Nonsense_Mutation_p.R1024*|GON4L_uc001fmd.3_Nonsense_Mutation_p.R1024*|GON4L_uc009wri.2_Nonsense_Mutation_p.R610*	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	gon-4-like isoform a	1024					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			ovary(3)	3	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGAGTTGATCGGGCTGGTGTT	0.557												
MEX3A	92312	broad.mit.edu	37	1	156046402	156046402	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:156046402T>C	uc001fnd.3	-	2	1526	c.1526A>G	c.(1525-1527)CAC>CGC	p.H509R		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	MEX3A protein	509	RING-type.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)					GGCTGTGATGTGGCAGACGGG	0.617												
SMG5	23381	broad.mit.edu	37	1	156233269	156233269	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:156233269T>C	uc001foc.3	-	13	2097	c.1948A>G	c.(1948-1950)ATG>GTG	p.M650V	SMG5_uc009wrv.2_Missense_Mutation_p.M135V	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	650					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			ovary(2)|skin(2)|pancreas(1)	5	Hepatocellular(266;0.158)					CCTTCGGCCATCAGGACCTGA	0.612												
HAPLN2	60484	broad.mit.edu	37	1	156593317	156593317	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:156593317G>A	uc001fpn.1	+	3	442	c.35G>A	c.(34-36)CGC>CAC	p.R12H	HAPLN2_uc010phq.1_Missense_Mutation_p.R12H	NM_021817	NP_068589	Q9GZV7	HPLN2_HUMAN	brain link protein-1 precursor	12					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACACTCTGCCGCTTCCTTCTT	0.622												
BCAN	63827	broad.mit.edu	37	1	156616930	156616930	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:156616930C>T	uc001fpp.2	+	3	765	c.429C>T	c.(427-429)ATC>ATT	p.I143I	BCAN_uc001fpo.2_Silent_p.I143I	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	brevican isoform 1	143	Ig-like V-type.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			ovary(1)|pancreas(1)	2	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCACGGCATCGATGACAGCA	0.532												
FCRL5	83416	broad.mit.edu	37	1	157490846	157490846	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:157490846C>T	uc001fqu.2	-	11	2634	c.2476G>A	c.(2476-2478)GGG>AGG	p.G826R	FCRL5_uc009wsm.2_Missense_Mutation_p.G826R	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	826	Extracellular (Potential).|Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			ovary(3)|breast(2)|central_nervous_system(1)	6	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CGCTGGGCCCCGAGGCCATTG	0.567												
IGSF9	57549	broad.mit.edu	37	1	159900506	159900506	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:159900506C>T	uc001fur.2	-	14	1987	c.1789G>A	c.(1789-1791)GAA>AAA	p.E597K	IGSF9_uc001fuq.2_Missense_Mutation_p.E581K|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9 isoform a	597	Fibronectin type-III 1.|Extracellular (Potential).					cell junction|integral to membrane|synapse				ovary(2)|central_nervous_system(2)|large_intestine(1)	5	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AAGACGATTTCGCTGAAGGGA	0.602												
ATP1A2	477	broad.mit.edu	37	1	160106432	160106432	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:160106432G>A	uc001fvc.2	+	19	2768	c.2636G>A	c.(2635-2637)CGG>CAG	p.R879Q	ATP1A2_uc001fvb.2_Missense_Mutation_p.R879Q|ATP1A2_uc001fvd.2_Missense_Mutation_p.R598Q	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	879	Extracellular (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTGCCATCACGGCTACTGGGA	0.577												
NHLH1	4807	broad.mit.edu	37	1	160340584	160340584	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:160340584G>A	uc001fwa.2	+	2	505	c.63G>A	c.(61-63)TCG>TCA	p.S21S		NM_005598	NP_005589	Q02575	HEN1_HUMAN	nescient helix loop helix 1	21					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGACTGAGTCGGGCTTCAGTG	0.697												
B4GALT3	8703	broad.mit.edu	37	1	161144895	161144895	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:161144895G>A	uc001fyq.1	-	4	639	c.377C>T	c.(376-378)GCC>GTC	p.A126V	PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron|B4GALT3_uc001fyo.1_5'Flank|B4GALT3_uc001fyp.1_RNA|B4GALT3_uc001fyr.1_Missense_Mutation_p.A126V|B4GALT3_uc001fys.1_Missense_Mutation_p.A126V|B4GALT3_uc009wud.1_Missense_Mutation_p.A126V	NM_003779	NP_003770	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4-	126	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity				0	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	CACAATGATGGCTGTTCGGGA	0.632												
HSPA6	3310	broad.mit.edu	37	1	161495457	161495457	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:161495457G>A	uc001gap.2	+	2	1669	c.1009G>A	c.(1009-1011)GTC>ATC	p.V337I	HSPA6_uc001gaq.2_Missense_Mutation_p.V337I	NM_002155	NP_002146	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	337					response to unfolded protein		ATP binding			skin(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCATGACGTCGTCCTGGTGGG	0.597												
FCRLA	84824	broad.mit.edu	37	1	161681172	161681172	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:161681172C>A	uc001gbe.2	+	4	718	c.476C>A	c.(475-477)GCA>GAA	p.A159E	FCRLA_uc001gbd.2_Missense_Mutation_p.A153E|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	Fc receptor-like and mucin-like 1	136	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region					0	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GTACAAAAGGCAGACAGCGGG	0.577												
TOR1AIP2	163590	broad.mit.edu	37	1	179815697	179815697	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:179815697G>T	uc001gnk.2	-	6	1310	c.922C>A	c.(922-924)CTG>ATG	p.L308M	TOR1AIP2_uc001gnl.2_Missense_Mutation_p.L308M	NM_145034	NP_659471	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	308						endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(1)	1						AGGCACTTCAGGGTCTCTCTT	0.547												
PRG4	10216	broad.mit.edu	37	1	186269238	186269238	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:186269238C>T	uc001gru.3	+	3	143	c.92C>T	c.(91-93)GCA>GTA	p.A31V	PRG4_uc001grt.3_Intron|PRG4_uc009wyl.2_Missense_Mutation_p.A31V|PRG4_uc009wym.2_Intron|PRG4_uc010poo.1_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	proteoglycan 4 isoform A	31	SMB 1.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			skin(1)	1						TCAAGCTGTGCAGGGAGATGT	0.443												
CAMSAP1L1	23271	broad.mit.edu	37	1	200730172	200730172	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:200730172T>C	uc001gvl.2	+	2	615	c.345T>C	c.(343-345)ACT>ACC	p.T115T	CAMSAP1L1_uc001gvk.2_Silent_p.T115T|CAMSAP1L1_uc001gvm.2_Silent_p.T115T	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein	115						cytoplasm|microtubule	protein binding			ovary(2)|large_intestine(1)|pancreas(1)	4						TTTATGTCACTGACCAGGAAA	0.423												
NAV1	89796	broad.mit.edu	37	1	201778663	201778663	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:201778663A>G	uc001gwu.2	+	21	4737	c.4390A>G	c.(4390-4392)AAG>GAG	p.K1464E	NAV1_uc001gwx.2_Missense_Mutation_p.K1073E	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1467					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(3)|ovary(1)	4						CCAAGTGTTCAAGGTAAAGGG	0.343												
ADIPOR1	51094	broad.mit.edu	37	1	202914151	202914151	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:202914151C>T	uc001gyq.3	-	5	844	c.577G>A	c.(577-579)GTC>ATC	p.V193I	ADIPOR1_uc010pqd.1_Missense_Mutation_p.V117I|ADIPOR1_uc001gyr.3_Intron|ADIPOR1_uc001gys.3_Missense_Mutation_p.V193I	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	adiponectin receptor 1	193	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity				0			BRCA - Breast invasive adenocarcinoma(75;0.141)			TGACAATAGACGGTGTGAAAG	0.443												
ADIPOR1	51094	broad.mit.edu	37	1	202917467	202917467	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:202917467G>C	uc001gyq.3	-	3	490	c.223C>G	c.(223-225)CAC>GAC	p.H75D	ADIPOR1_uc010pqd.1_5'UTR|ADIPOR1_uc001gyr.3_5'UTR|ADIPOR1_uc001gys.3_Missense_Mutation_p.H75D	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	adiponectin receptor 1	75	Cytoplasmic (Potential).				fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity				0			BRCA - Breast invasive adenocarcinoma(75;0.141)			TCCATGGCGTGGTGGGCTTGC	0.567												
CHIT1	1118	broad.mit.edu	37	1	203186140	203186140	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:203186140C>T	uc001gzn.2	-	11	1374	c.1278G>A	c.(1276-1278)GGG>GGA	p.G426G	FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_Intron|CHIT1_uc009xal.1_Silent_p.G188G|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Silent_p.G417G	NM_003465	NP_003456	Q13231	CHIT1_HUMAN	chitotriosidase precursor	426	Chitin-binding type-2.				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity				0						TGGGATAGAGCCCATCAGCTT	0.602											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
DSTYK	25778	broad.mit.edu	37	1	205128728	205128728	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:205128728C>T	uc001hbw.2	-	9	2249	c.2185G>A	c.(2185-2187)GCT>ACT	p.A729T	DSTYK_uc001hbx.2_Missense_Mutation_p.A729T	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	729	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1						AGGAGCACAGCAATGCTGGAG	0.542												
LEMD1	93273	broad.mit.edu	37	1	205350918	205350918	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:205350918G>A	uc001hcj.1	-	6	516	c.414C>T	c.(412-414)TGC>TGT	p.C138C	LEMD1_uc001hci.1_Missense_Mutation_p.A91V|LEMD1_uc001hck.1_RNA|LEMD1_uc001hcl.1_Silent_p.C97C|LEMD1_uc001hcm.1_RNA|LEMD1_uc001hcn.1_RNA|uc001hch.1_Intron			Q68G75	LEMD1_HUMAN	RecName: Full=LEM domain-containing protein 1;          Short=LEMP-1; AltName: Full=Cancer/testis antigen 50;          Short=CT50;	138						integral to membrane|nuclear envelope					0	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			GGTCTTCCGCGCAGTAGTCTC	0.488												
CENPF	1063	broad.mit.edu	37	1	214813825	214813825	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:214813825A>G	uc001hkm.2	+	12	2318	c.2144A>G	c.(2143-2145)CAG>CGG	p.Q715R		NM_016343	NP_057427	P49454	CENPF_HUMAN	centromere protein F	715	Potential.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1)	13				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAGAAACATCAGAAGGAAATA	0.398												
MOSC2	54996	broad.mit.edu	37	1	220953575	220953575	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:220953575T>C	uc001hmq.2	+	6	1076	c.878T>C	c.(877-879)CTG>CCG	p.L293P	MOSC2_uc001hmr.2_Missense_Mutation_p.L293P|MOSC2_uc009xdx.2_Intron	NM_017898	NP_060368	Q969Z3	MOSC2_HUMAN	MOCO sulphurase C-terminal domain containing 2	293	MOSC.					mitochondrial outer membrane|peroxisome	molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding				0				GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204)		CTGGACACCCTGAAGAGGTAG	0.448												
DISP1	84976	broad.mit.edu	37	1	223177842	223177842	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:223177842A>G	uc001hnu.1	+	8	3250	c.3103A>G	c.(3103-3105)AAT>GAT	p.N1035D		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1035					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		CTGGGAGCTCAATGTGTTGGA	0.498												
DISP1	84976	broad.mit.edu	37	1	223177922	223177922	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:223177922C>T	uc001hnu.1	+	8	3330	c.3183C>T	c.(3181-3183)CGC>CGT	p.R1061R		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	dispatched A	1061					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity				0				GBM - Glioblastoma multiforme(131;0.102)		TTGCCTACCGCTTGGCTCCAG	0.587												
PARP1	142	broad.mit.edu	37	1	226568810	226568810	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:226568810G>A	uc001hqd.3	-	9	1430	c.1259C>T	c.(1258-1260)ACG>ATG	p.T420M		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	420	Automodification domain.|BRCT.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			lung(3)|ovary(2)|breast(2)|skin(2)|upper_aerodigestive_tract(1)	10	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGCCGTCCCCGTCAACTTCCC	0.478								Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA				
ITPKB	3707	broad.mit.edu	37	1	226924476	226924476	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:226924476C>T	uc010pvo.1	-	2	1024	c.684G>A	c.(682-684)TCG>TCA	p.S228S	ITPKB_uc001hqh.2_Silent_p.S228S	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	228							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)				TCTTCACCTGCGAGGAGCATA	0.607												
CABC1	56997	broad.mit.edu	37	1	227152742	227152742	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:227152742C>T	uc001hqm.1	+	8	3638	c.219C>T	c.(217-219)GGC>GGT	p.G73G	CABC1_uc010pvp.1_Silent_p.G36G|CABC1_uc001hqn.1_Silent_p.G73G|CABC1_uc009xeq.1_Silent_p.G21G|CABC1_uc010pvq.1_Intron|CABC1_uc010pvr.1_5'Flank	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	chaperone, ABC1 activity of bc1 complex like	73					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity				0		Prostate(94;0.0771)				AGAACTTCGGCGGCCCAGAAG	0.597												
OBSCN	84033	broad.mit.edu	37	1	228470812	228470812	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:228470812C>T	uc009xez.1	+	32	8608	c.8564C>T	c.(8563-8565)ACG>ATG	p.T2855M	OBSCN_uc001hsn.2_Missense_Mutation_p.T2855M|OBSCN_uc001hsp.1_Missense_Mutation_p.T554M|OBSCN_uc001hsq.1_Missense_Mutation_p.T111M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	2855	Ig-like 28.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28		Prostate(94;0.0405)				CGGGCGGGAACGCCCGTGCAC	0.662												
URB2	9816	broad.mit.edu	37	1	229787056	229787056	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:229787056G>A	uc001hts.1	+	8	4360	c.4224G>A	c.(4222-4224)CGG>CGA	p.R1408R	URB2_uc009xfd.1_Silent_p.R1408R	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	1408						nucleolus				central_nervous_system(2)|ovary(1)	3						GGGAAGGGCGGCAGAAGGACA	0.388												
C1orf124	83932	broad.mit.edu	37	1	231474173	231474173	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:231474173G>T	uc001hur.2	+	1	492	c.44G>T	c.(43-45)TGG>TTG	p.W15L	EXOC8_uc001huq.2_5'Flank|C1orf124_uc001hus.2_Missense_Mutation_p.W15L|C1orf124_uc001hut.2_Missense_Mutation_p.W15L	NM_032018	NP_114407	Q9H040	CA124_HUMAN	hypothetical protein LOC83932 isoform a	15					DNA repair	nuclear speck	DNA binding|metal ion binding				0	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CAGGAGGAGTGGAACTTGCAG	0.642												
PCNXL2	80003	broad.mit.edu	37	1	233397843	233397843	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:233397843C>T	uc001hvl.2	-	3	663	c.428G>A	c.(427-429)CGC>CAC	p.R143H	PCNXL2_uc009xfu.2_5'Flank|PCNXL2_uc009xfv.1_5'Flank	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	pecanex-like 2	143						integral to membrane				central_nervous_system(1)|pancreas(1)	2		all_cancers(173;0.0347)|Prostate(94;0.137)				GGAGCTGCAGCGGAGGGGAGG	0.488												
ARID4B	51742	broad.mit.edu	37	1	235377281	235377281	+	Silent	SNP	C	C	T	rs113894806		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:235377281C>T	uc001hwq.2	-	17	2142	c.1644G>A	c.(1642-1644)GAG>GAA	p.E548E	ARID4B_uc001hwr.2_Intron|ARID4B_uc001hws.3_Intron|ARID4B_uc001hwt.3_Silent_p.E229E	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	548	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			ovary(2)|lung(1)	3	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			cttcttcttcctcctcctcct	0.249												
LYST	1130	broad.mit.edu	37	1	235866168	235866168	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:235866168G>A	uc001hxj.2	-	45	10428	c.10253C>T	c.(10252-10254)GCC>GTC	p.A3418V	LYST_uc001hxi.2_Missense_Mutation_p.A642V	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3418	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			ovary(6)|breast(4)|central_nervous_system(2)	12	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCTCACATGGGCCATGTGGAA	0.527									Chediak-Higashi_syndrome			
RYR2	6262	broad.mit.edu	37	1	237777706	237777706	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:237777706C>T	uc001hyl.1	+	37	5398	c.5278C>T	c.(5278-5280)CGG>TGG	p.R1760W		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1760	Cytoplasmic (By similarity).|4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTCAGGCCACGGATGCAGTT	0.512												
CHRM3	1131	broad.mit.edu	37	1	240071274	240071274	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:240071274A>G	uc001hyp.2	+	5	1302	c.523A>G	c.(523-525)ACG>GCG	p.T175A		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	175	Cytoplasmic (By similarity).				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(4)|skin(1)	5	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GAGGCCGCTCACGTACCGAGC	0.512												
FMN2	56776	broad.mit.edu	37	1	240256612	240256612	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:240256612C>T	uc010pyd.1	+	1	1428	c.1203C>T	c.(1201-1203)CCC>CCT	p.P401P	FMN2_uc010pye.1_Silent_p.P401P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	formin 2	401					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)			CCGGCAGCCCCGCGCCTAGCC	0.706												
NLRP3	114548	broad.mit.edu	37	1	247588581	247588581	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:247588581T>C	uc001icr.2	+	5	1974	c.1836T>C	c.(1834-1836)ATT>ATC	p.I612I	NLRP3_uc001ics.2_Silent_p.I612I|NLRP3_uc001icu.2_Silent_p.I612I|NLRP3_uc001icw.2_Silent_p.I612I|NLRP3_uc001icv.2_Silent_p.I612I|NLRP3_uc010pyw.1_Silent_p.I610I|NLRP3_uc001ict.1_Silent_p.I610I	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3 isoform a	612					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TGAAATGGATTGAAGTGAAAG	0.483												
OR2T34	127068	broad.mit.edu	37	1	248737350	248737350	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:248737350C>T	uc001iep.1	-	1	709	c.709G>A	c.(709-711)GCC>ACC	p.A237T		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T,	237	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	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)			CTGCGGCCGGCGGCAGAATTC	0.562												
DIP2C	22982	broad.mit.edu	37	10	433709	433709	+	Silent	SNP	G	G	A	rs143826852	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:433709G>A	uc001ifp.2	-	14	1728	c.1638C>T	c.(1636-1638)GTC>GTT	p.V546V	DIP2C_uc009xhj.1_Silent_p.V242V	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	546						nucleus	catalytic activity|transcription factor binding			breast(4)|ovary(2)|large_intestine(1)	7		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCCAGAGCCCGACGTCCTTCT	0.552												
SFMBT2	57713	broad.mit.edu	37	10	7290596	7290596	+	Silent	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:7290596G>T	uc009xio.1	-	8	977	c.886C>A	c.(886-888)CGA>AGA	p.R296R	SFMBT2_uc001ijn.1_Silent_p.R296R|SFMBT2_uc010qay.1_Silent_p.R296R	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	296	MBT 3.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						AAATGGCTTCGCAAATCTGCG	0.483												
UPF2	26019	broad.mit.edu	37	10	11990443	11990443	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:11990443T>A	uc001ila.2	-	15	3573	c.3099A>T	c.(3097-3099)GAA>GAT	p.E1033D	UPF2_uc001ilb.2_Missense_Mutation_p.E1033D|UPF2_uc001ilc.2_Missense_Mutation_p.E1033D	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog	1033	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			central_nervous_system(2)|ovary(1)	3		Renal(717;0.228)				cttcttcttcttcatcctctt	0.154												
SPAG6	9576	broad.mit.edu	37	10	22676794	22676794	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:22676794G>A	uc001iri.2	+	6	863	c.721G>A	c.(721-723)GTG>ATG	p.V241M	SPAG6_uc001irj.2_Missense_Mutation_p.V241M|SPAG6_uc010qct.1_Missense_Mutation_p.V211M|SPAG6_uc009xkh.2_Missense_Mutation_p.V219M	NM_012443	NP_036575	O75602	SPAG6_HUMAN	sperm associated antigen 6 isoform 1	241	ARM 6.				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding			breast(1)	1						AAAACATTCCGTGGATCTGGC	0.383												
APBB1IP	54518	broad.mit.edu	37	10	26800783	26800783	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:26800783T>C	uc001iss.2	+	7	960	c.639T>C	c.(637-639)TGT>TGC	p.C213C	APBB1IP_uc009xks.1_Silent_p.C213C	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding,	213	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				lung(4)|skin(2)|central_nervous_system(1)	7						AAACTCATTGTGACTGCAATG	0.468												
MASTL	84930	broad.mit.edu	37	10	27459730	27459730	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:27459730C>T	uc001itm.2	+	8	2481	c.1842C>T	c.(1840-1842)TGC>TGT	p.C614C	MASTL_uc001itl.2_Silent_p.C614C|MASTL_uc009xkw.1_Silent_p.C614C|MASTL_uc009xkx.1_RNA	NM_032844	NP_116233	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine	614	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						CACCAGATTGCCAAGAAAAGA	0.403												
SVIL	6840	broad.mit.edu	37	10	29839919	29839919	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:29839919G>T	uc001iut.1	-	6	1187	c.434C>A	c.(433-435)GCT>GAT	p.A145D	SVIL_uc001iuu.1_Missense_Mutation_p.A145D|SVIL_uc009xld.1_Missense_Mutation_p.A145D	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	145	Interaction with MYLK (By similarity).				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)				CTTCTCGACAGCATCAGGCTC	0.557												
ANKRD30A	91074	broad.mit.edu	37	10	37486356	37486356	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:37486356G>T	uc001iza.1	+	29	2595	c.2496G>T	c.(2494-2496)AAG>AAT	p.K832N		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	888						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9						AAATGCAAAAGTCTGTTCCAA	0.308												
BMS1	9790	broad.mit.edu	37	10	43292147	43292147	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:43292147A>G	uc001jaj.2	+	10	1813	c.1455A>G	c.(1453-1455)CGA>CGG	p.R485R		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	485					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3						GCATCAAACGACGGAAACTTG	0.483												
CSGALNACT2	55454	broad.mit.edu	37	10	43662530	43662530	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:43662530C>A	uc001jan.2	+	6	1573	c.1238C>A	c.(1237-1239)CCT>CAT	p.P413H		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate	413	Lumenal (Potential).				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			ovary(1)	1						GTGCCACCACCTGTGGAGCAG	0.378												
GDF2	2658	broad.mit.edu	37	10	48413645	48413645	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:48413645T>C	uc001jfa.1	-	2	1386	c.1223A>G	c.(1222-1224)GAC>GGC	p.D408G		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	growth differentiation factor 2 precursor	408					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(2)|skin(1)	3						CACCCCCATGTCATCCTTGTA	0.602												
FRMPD2	143162	broad.mit.edu	37	10	49448448	49448448	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:49448448C>T	uc001jgi.2	-	6	762	c.655G>A	c.(655-657)GAG>AAG	p.E219K	FRMPD2_uc001jgh.2_Missense_Mutation_p.E188K|FRMPD2_uc001jgj.2_Missense_Mutation_p.E197K	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2 isoform 3	219					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			large_intestine(1)	1				Kidney(211;0.201)		GCTGGGCTCTCGCTGCTTGTC	0.582												
BICC1	80114	broad.mit.edu	37	10	60272971	60272971	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:60272971G>A	uc001jki.1	+	1	68	c.68G>A	c.(67-69)AGC>AAC	p.S23N		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	bicaudal C homolog 1	23					multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4						AGCGAGCGCAGCACCGACTCC	0.751												
PPA1	5464	broad.mit.edu	37	10	71964629	71964629	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:71964629C>T	uc001jqv.1	-	10	945	c.838G>A	c.(838-840)GTG>ATG	p.V280M		NM_021129	NP_066952	Q15181	IPYR_HUMAN	pyrophosphatase 1	280					diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding			breast(1)	1						GAAATCTTACCGTCTGTTGGT	0.229												
POLR3A	11128	broad.mit.edu	37	10	79769344	79769344	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:79769344C>A	uc001jzn.2	-	14	1954	c.1860G>T	c.(1858-1860)AAG>AAT	p.K620N		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	620					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ACTGCTTGCCCTTGGTTCGCA	0.567												
POLR3A	11128	broad.mit.edu	37	10	79769644	79769644	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:79769644A>C	uc001jzn.2	-	13	1842	c.1748T>G	c.(1747-1749)CTC>CGC	p.L583R		NM_007055	NP_008986	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	583					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding				0	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			AGGCGGTGGGAGGCGAACTTT	0.478												
NRG3	10718	broad.mit.edu	37	10	84498345	84498345	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:84498345C>T	uc001kco.2	+	3	993	c.966C>T	c.(964-966)GGC>GGT	p.G322G	NRG3_uc010qlz.1_Silent_p.G322G|NRG3_uc001kcp.2_Silent_p.G101G|NRG3_uc001kcq.2_5'UTR	NM_001010848	NP_001010848	P56975	NRG3_HUMAN	neuregulin 3 isoform 1	322	EGF-like.|Extracellular (Potential).				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			lung(5)|breast(1)	6				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GCAAAGAAGGCTACCAAGGAG	0.368												
LRIT1	26103	broad.mit.edu	37	10	86001138	86001138	+	Missense_Mutation	SNP	G	G	A	rs149315483		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:86001138G>A	uc001kcz.1	-	1	80	c.58C>T	c.(58-60)CGG>TGG	p.R20W		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	20						integral to endoplasmic reticulum membrane					0						CAGAAGCCCCGGGCCTGGGGG	0.677												
GRID1	2894	broad.mit.edu	37	10	87615817	87615817	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:87615817C>T	uc001kdl.1	-	7	1183	c.1082G>A	c.(1081-1083)GGT>GAT	p.G361D	GRID1_uc009xsu.1_RNA	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	361	Extracellular (Potential).					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10					L-Glutamic Acid(DB00142)	GGACCTCCCACCATTCCATGG	0.562										Multiple Myeloma(13;0.14)		
ACTA2	59	broad.mit.edu	37	10	90708624	90708624	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:90708624C>T	uc001kfp.2	-	2	180	c.64G>A	c.(64-66)GGC>AGC	p.G22S	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Intron|ACTA2_uc001kfq.2_Missense_Mutation_p.G22S|ACTA2_uc010qmz.1_Missense_Mutation_p.G22S	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	22					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		CCAGCAAAGCCGGCCTTACAG	0.512												
TNKS2	80351	broad.mit.edu	37	10	93590876	93590876	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:93590876C>T	uc001khp.2	+	11	1510	c.1213C>T	c.(1213-1215)CAC>TAC	p.H405Y		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related	405	ANK 8.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			kidney(3)|skin(3)|ovary(1)|lung(1)	8		Colorectal(252;0.162)				GACTCCTCTGCACGTGGCATC	0.333												
PLCE1	51196	broad.mit.edu	37	10	95791856	95791856	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:95791856G>A	uc001kjk.2	+	2	1687	c.1053G>A	c.(1051-1053)CTG>CTA	p.L351L	PLCE1_uc010qnx.1_Silent_p.L351L	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	351					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)				TGAGAACTCTGCCTTCTGGCC	0.443												
NOC3L	64318	broad.mit.edu	37	10	96094000	96094000	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:96094000G>T	uc001kjq.1	-	21	2425	c.2337C>A	c.(2335-2337)TAC>TAA	p.Y779*		NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog	779						nuclear speck|nucleolus	binding			ovary(1)	1		Colorectal(252;0.0897)				CTTCACTGGAGTATCTTTTGA	0.318												
DNMBP	23268	broad.mit.edu	37	10	101715833	101715833	+	Silent	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:101715833G>T	uc001kqj.2	-	4	1490	c.1398C>A	c.(1396-1398)TCC>TCA	p.S466S	NCRNA00093_uc001kqk.1_Intron	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	466					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTTTTAGCTGGGAATACATTC	0.517												
DNMBP	23268	broad.mit.edu	37	10	101716831	101716831	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:101716831G>T	uc001kqj.2	-	4	492	c.400C>A	c.(400-402)CAC>AAC	p.H134N	NCRNA00093_uc001kqk.1_RNA	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	134					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(5)|skin(1)	6		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTCTGGGAGTGCCACTGCCGG	0.617												
LBX1	10660	broad.mit.edu	37	10	102987321	102987321	+	Silent	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:102987321C>A	uc001ksx.2	-	2	697	c.552G>T	c.(550-552)CTG>CTT	p.L184L	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	184	Homeobox.				muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		TCATCTCCTCCAGGTCCCGCT	0.647												
SORCS3	22986	broad.mit.edu	37	10	106865237	106865237	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:106865237T>C	uc001kyi.1	+	7	1403	c.1176T>C	c.(1174-1176)AGT>AGC	p.S392S		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	VPS10 domain receptor protein SORCS 3 precursor	392	Lumenal (Potential).					integral to membrane	neuropeptide receptor activity			ovary(6)|skin(3)|central_nervous_system(1)	10		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTGACATCAGTTCCCTGGTTG	0.502												
ABLIM1	3983	broad.mit.edu	37	10	116247739	116247739	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:116247739G>A	uc010qsg.1	-	8	1118	c.1019C>T	c.(1018-1020)ACG>ATG	p.T340M	ABLIM1_uc010qsh.1_Missense_Mutation_p.T280M|ABLIM1_uc010qsi.1_Missense_Mutation_p.T280M|ABLIM1_uc010qsk.1_Missense_Mutation_p.T264M|ABLIM1_uc009xyp.2_Missense_Mutation_p.T274M|ABLIM1_uc010qsf.1_Missense_Mutation_p.T24M|ABLIM1_uc009xyn.2_Missense_Mutation_p.T17M|ABLIM1_uc010qsj.1_Missense_Mutation_p.T17M|ABLIM1_uc009xyo.2_Missense_Mutation_p.T188M	NM_002313	NP_002304	O14639	ABLM1_HUMAN	actin-binding LIM protein 1 isoform a	340	LIM zinc-binding 4.				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(1)	1		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTCGGTCTTCGTAGATTGCTT	0.483												
FGFR2	2263	broad.mit.edu	37	10	123325059	123325059	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:123325059T>G	uc010qtk.1	-	3	916	c.269A>C	c.(268-270)GAG>GCG	p.E90A	FGFR2_uc010qtg.1_Missense_Mutation_p.E90A|FGFR2_uc010qth.1_Intron|FGFR2_uc010qti.1_Intron|FGFR2_uc010qtj.1_Missense_Mutation_p.E90A|FGFR2_uc010qtl.1_Missense_Mutation_p.E90A|FGFR2_uc010qtm.1_Intron|FGFR2_uc001lfl.3_Missense_Mutation_p.E90A|FGFR2_uc001lfm.2_Intron|FGFR2_uc001lfn.3_Intron|FGFR2_uc010qtn.1_Missense_Mutation_p.E109A|FGFR2_uc010qto.1_Intron|FGFR2_uc001lfo.1_Missense_Mutation_p.E109A|FGFR2_uc010qtp.1_Missense_Mutation_p.E109A|FGFR2_uc010qtq.1_Missense_Mutation_p.E109A	NM_000141	NP_000132	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2 isoform 1	90	Ig-like C2-type 1.|Extracellular (Potential).				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1)	96		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTGCAAGTACTCCCCAATAAG	0.527		5	Mis		gastric. NSCLC|endometrial		Crouzon|Pfeiffer|and Apert syndromes		Apert_syndrome|Saethre-Chotzen_syndrome			
MMP21	118856	broad.mit.edu	37	10	127462527	127462527	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:127462527G>A	uc001liu.2	-	2	570	c.570C>T	c.(568-570)TCC>TCT	p.S190S		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	matrix metalloproteinase 21 preproprotein	190					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGTCGGCCACGGACAGTTGGC	0.741												
EBF3	253738	broad.mit.edu	37	10	131757223	131757223	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:131757223G>A	uc001lki.1	-	5	519	c.460C>T	c.(460-462)CTG>TTG	p.L154L		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	154	C5-type (Potential).				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)		TGGGTCAGCAGCACACGGCAC	0.562												
PPP2R2D	55844	broad.mit.edu	37	10	133753565	133753565	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:133753565T>C	uc001lks.2	+	2	373	c.130T>C	c.(130-132)TAT>CAT	p.Y44H	PPP2R2D_uc001lkr.2_5'UTR|PPP2R2D_uc001lkt.2_5'UTR|PPP2R2D_uc009yay.2_5'UTR	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B,	77					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			skin(1)	1		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		TAGGGGAGAATATAATGTTTA	0.338												
INPP5A	3632	broad.mit.edu	37	10	134563059	134563059	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:134563059C>T	uc001llp.2	+	10	1019	c.771C>T	c.(769-771)GCC>GCT	p.A257A	INPP5A_uc001llo.1_Silent_p.A257A|INPP5A_uc001llq.2_Intron	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	257					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			skin(1)	1		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		CGGTCCGGGCCGCCGACACCA	0.627												
ADAM8	101	broad.mit.edu	37	10	135084567	135084567	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:135084567G>A	uc010qva.1	-	13	1316	c.1265C>T	c.(1264-1266)CCG>CTG	p.P422L	ADAM8_uc010quz.1_Missense_Mutation_p.P461L|ADAM8_uc009ybi.2_Missense_Mutation_p.P461L			P78325	ADAM8_HUMAN	SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);	422					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			large_intestine(2)|central_nervous_system(1)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CTCACCAGCCGGCTTCACCTG	0.647												
PSMD13	5719	broad.mit.edu	37	11	252595	252595	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:252595A>G	uc001lol.2	+	13	1368	c.1126A>G	c.(1126-1128)ACC>GCC	p.T376A	PSMD13_uc010qvr.1_RNA|PSMD13_uc001loo.2_Missense_Mutation_p.T378A|PSMD13_uc001lon.2_Missense_Mutation_p.T311A|PSMD13_uc001lom.2_Missense_Mutation_p.T351A|PSMD13_uc001lop.2_Missense_Mutation_p.T159A	NM_002817	NP_002808	Q9UNM6	PSD13_HUMAN	proteasome 26S non-ATPase subunit 13 isoform 1	376					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			ovary(1)	1		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		TGACATCCTCACCTAGGGCCC	0.557												
MUC6	4588	broad.mit.edu	37	11	1018569	1018569	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:1018569G>T	uc001lsw.2	-	31	4283	c.4232C>A	c.(4231-4233)ACG>AAG	p.T1411K		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1411	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTCCCCGCCGTAGGCGGGGA	0.582												
MUC2	4583	broad.mit.edu	37	11	1085752	1085752	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:1085752C>T	uc001lsx.1	+	21	2700	c.2673C>T	c.(2671-2673)TGC>TGT	p.C891C		NM_002457	NP_002448	Q02817	MUC2_HUMAN	mucin 2 precursor	891	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			lung(1)|breast(1)	2		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGACTACTGCGGCCAGAACT	0.637												
INS-IGF2	723961	broad.mit.edu	37	11	2170546	2170546	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:2170546A>G	uc001lvm.2	-	3	276	c.217T>C	c.(217-219)TCA>CCA	p.S73P	IGF2_uc001lvh.2_5'UTR|INS-IGF2_uc001lvi.2_RNA	NM_001042376	NP_001035835	Q1WM24	Q1WM24_HUMAN	insulin- insulin-like growth factor 2	73					glucose metabolic process	extracellular region	hormone activity				0		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GGCCAGGTTGACGTGGAGGAG	0.582												
CARS	833	broad.mit.edu	37	11	3022438	3022438	+	Missense_Mutation	SNP	T	T	C	rs143403960		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:3022438T>C	uc001lxh.2	-	22	2227	c.2153A>G	c.(2152-2154)AAA>AGA	p.K718R	CARS_uc009ydu.2_RNA|CARS_uc001lxe.2_Missense_Mutation_p.K708R|CARS_uc001lxf.2_Missense_Mutation_p.K801R|CARS_uc001lxg.2_Missense_Mutation_p.K721E|CARS_uc010qxo.1_Missense_Mutation_p.K804E|CARS_uc010qxp.1_Missense_Mutation_p.K734E	NM_001751	NP_001742	P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase isoform b	718					cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding		CARS/ALK(5)	soft_tissue(5)|ovary(2)	7		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GGCTTGCCCTTTGCTGAGCTC	0.557			T	ALK	ALCL							
TRIM68	55128	broad.mit.edu	37	11	4621712	4621712	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:4621712C>A	uc001lzf.1	-	7	1490	c.1252G>T	c.(1252-1254)GTC>TTC	p.V418F	TRIM68_uc001lzg.1_Missense_Mutation_p.V195F|TRIM68_uc010qyj.1_RNA	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	ring finger protein 137	418	B30.2/SPRY.				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		CGAGGAGGGACCGGCAAGGAC	0.537												
OR51B4	79339	broad.mit.edu	37	11	5322281	5322281	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:5322281C>A	uc010qza.1	-	1	896	c.896G>T	c.(895-897)AGC>ATC	p.S299I	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B,	299	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)|skin(1)	2		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCGAATAATGCTTCTTTGAAT	0.428												
PRKCDBP	112464	broad.mit.edu	37	11	6340498	6340498	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:6340498C>T	uc001mcu.1	-	2	715	c.681G>A	c.(679-681)GCG>GCA	p.A227A		NM_145040	NP_659477	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	227											0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGGGCTCCAGCGCAGGCTGGG	0.706												
SMPD1	6609	broad.mit.edu	37	11	6412941	6412941	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:6412941C>T	uc001mcw.2	+	2	820	c.646C>T	c.(646-648)CTG>TTG	p.L216L	SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Silent_p.L216L|SMPD1_uc009yew.2_Silent_p.L215L	NM_000543	NP_000534	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid	214					cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity				0		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	TCATGACTACCTGGAGGGCAC	0.682												
HPX	3263	broad.mit.edu	37	11	6461427	6461427	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:6461427G>A	uc001mdg.2	-	4	365	c.304C>T	c.(304-306)CGT>TGT	p.R102C	HPX_uc001mdf.2_5'Flank|HPX_uc009yfc.2_RNA|HPX_uc010rai.1_Missense_Mutation_p.R102C	NM_000613	NP_000604	P02790	HEMO_HUMAN	hemopexin precursor	102	Hemopexin-like 2.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TGACCTTGACGGAATGCAGCA	0.527												
OR10A5	144124	broad.mit.edu	37	11	6867802	6867802	+	Missense_Mutation	SNP	G	G	A	rs146897268		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:6867802G>A	uc001met.1	+	1	889	c.889G>A	c.(889-891)GAG>AAG	p.E297K		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E297K(1)		skin(2)|ovary(1)	3		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAGAAATAGCGAGGTGAAGAA	0.418												
ST5	6764	broad.mit.edu	37	11	8732756	8732756	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:8732756A>G	uc001mgt.2	-	10	2381	c.2195T>C	c.(2194-2196)ATG>ACG	p.M732T	ST5_uc009yfr.2_Missense_Mutation_p.M312T|ST5_uc001mgu.2_Missense_Mutation_p.M312T|ST5_uc001mgv.2_Missense_Mutation_p.M732T|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Missense_Mutation_p.M245T|ST5_uc009yfs.2_RNA	NM_213618	NP_998783	P78524	ST5_HUMAN	suppression of tumorigenicity 5 isoform 1	732	UDENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			upper_aerodigestive_tract(1)	1				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TGCCTCTCGCATCTGCTTGGT	0.597												
IPO7	10527	broad.mit.edu	37	11	9444593	9444593	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:9444593A>G	uc001mho.2	+	9	1089	c.947A>G	c.(946-948)TAT>TGT	p.Y316C		NM_006391	NP_006382	O95373	IPO7_HUMAN	importin 7	316					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			lung(1)|breast(1)	2				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GAGAAGCAATATATGGCTCCT	0.323												
AMPD3	272	broad.mit.edu	37	11	10517233	10517233	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:10517233G>A	uc001mio.1	+	9	1718	c.1383G>A	c.(1381-1383)AAG>AAA	p.K461K	AMPD3_uc010rbz.1_Silent_p.K302K|AMPD3_uc001min.1_Silent_p.K470K|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Silent_p.K468K|AMPD3_uc009yfy.2_Silent_p.K461K	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	461					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			large_intestine(1)|ovary(1)	2				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		TCCAGCACAAGGTCTACTCTC	0.577												
NAV2	89797	broad.mit.edu	37	11	19954794	19954794	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:19954794G>A	uc010rdm.1	+	8	1434	c.1073G>A	c.(1072-1074)AGC>AAC	p.S358N	NAV2_uc001mpp.2_Missense_Mutation_p.S271N|NAV2_uc001mpr.3_Missense_Mutation_p.S335N	NM_145117	NP_660093	Q8IVL1	NAV2_HUMAN	neuron navigator 2 isoform 2	358						nucleus	ATP binding|helicase activity			skin(4)|ovary(1)|pancreas(1)	6						GAGAGCGGCAGCAGCTCCACC	0.602												
ANO3	63982	broad.mit.edu	37	11	26620415	26620415	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:26620415G>A	uc001mqt.3	+	16	1686	c.1541G>A	c.(1540-1542)CGT>CAT	p.R514H	ANO3_uc010rdr.1_Missense_Mutation_p.R498H|ANO3_uc010rds.1_Missense_Mutation_p.R353H|ANO3_uc010rdt.1_Missense_Mutation_p.R368H	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	514	Cytoplasmic (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GAAACACTTCGTCCCCAGTTT	0.393												
ANO3	63982	broad.mit.edu	37	11	26677939	26677939	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:26677939G>T	uc001mqt.3	+	26	2819	c.2674G>T	c.(2674-2676)GGC>TGC	p.G892C	ANO3_uc010rdr.1_Missense_Mutation_p.G876C|ANO3_uc010rds.1_Missense_Mutation_p.G731C|ANO3_uc010rdt.1_Missense_Mutation_p.G746C	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	transmembrane protein 16C	892	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						AGACTACAGAGGCCCGCCCTG	0.408												
EHF	26298	broad.mit.edu	37	11	34680408	34680408	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:34680408G>A	uc001mvr.1	+	9	944	c.833G>A	c.(832-834)CGT>CAT	p.R278H	EHF_uc009yke.1_Missense_Mutation_p.R255H|EHF_uc009ykf.1_Missense_Mutation_p.R281H	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	ets homologous factor	278	ETS.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			ATTCTGGAGCGTGTGGATGGA	0.408												
PAMR1	25891	broad.mit.edu	37	11	35457486	35457486	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:35457486C>A	uc001mwg.2	-	9	1341	c.1298G>T	c.(1297-1299)GGG>GTG	p.G433V	PAMR1_uc001mwf.2_Missense_Mutation_p.G450V|PAMR1_uc010rew.1_Missense_Mutation_p.G322V|PAMR1_uc010rex.1_Missense_Mutation_p.G393V	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN	regeneration associated muscle protease isoform	433	Sushi 2.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2						ACTCCACTTCCCAGTCCTCAG	0.552												
DGKZ	8525	broad.mit.edu	37	11	46400607	46400607	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:46400607C>T	uc001ncn.1	+	29	3174	c.3049C>T	c.(3049-3051)CAC>TAC	p.H1017Y	DGKZ_uc001nch.1_Missense_Mutation_p.H845Y|DGKZ_uc010rgq.1_3'UTR|DGKZ_uc001ncj.1_Missense_Mutation_p.H795Y|DGKZ_uc010rgr.1_Missense_Mutation_p.H794Y|DGKZ_uc001nck.1_Missense_Mutation_p.H607Y|DGKZ_uc001ncl.2_Missense_Mutation_p.H829Y|DGKZ_uc001ncm.2_Missense_Mutation_p.H828Y|DGKZ_uc009yky.1_Missense_Mutation_p.H829Y|DGKZ_uc010rgs.1_Missense_Mutation_p.H806Y|MDK_uc009ykz.1_5'Flank|MDK_uc001nco.2_5'Flank|MDK_uc001ncp.2_5'Flank|MDK_uc009yla.2_5'Flank|MDK_uc009ylb.2_5'Flank|MDK_uc001ncq.2_5'Flank|MDK_uc001ncr.2_5'Flank|MDK_uc001ncs.2_5'Flank	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	diacylglycerol kinase zeta isoform 4	1017	ANK 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			pancreas(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CACGCTCCTGCACCACGCAGT	0.687												
AMBRA1	55626	broad.mit.edu	37	11	46529844	46529844	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:46529844T>C	uc010rgu.1	-	9	2596	c.2236A>G	c.(2236-2238)ATG>GTG	p.M746V	AMBRA1_uc010rgt.1_Missense_Mutation_p.M312V|AMBRA1_uc009ylc.1_Missense_Mutation_p.M717V|AMBRA1_uc001ncu.1_Missense_Mutation_p.M656V|AMBRA1_uc001ncv.2_Missense_Mutation_p.M749V|AMBRA1_uc001ncw.2_Missense_Mutation_p.M627V|AMBRA1_uc001ncx.2_Intron	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	activating molecule in beclin-1-regulated	746					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				large_intestine(1)|ovary(1)|central_nervous_system(1)	3				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TGGTAGCGCATGGAGCGCTGG	0.517												
MADD	8567	broad.mit.edu	37	11	47307995	47307995	+	Missense_Mutation	SNP	C	C	T	rs144471266		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:47307995C>T	uc001ner.1	+	15	2754	c.2563C>T	c.(2563-2565)CGG>TGG	p.R855W	MADD_uc001neq.2_Missense_Mutation_p.R855W|MADD_uc001nev.1_Missense_Mutation_p.R812W|MADD_uc001nes.1_Missense_Mutation_p.R812W|MADD_uc001net.1_Missense_Mutation_p.R855W|MADD_uc009yln.1_Missense_Mutation_p.R812W|MADD_uc001neu.1_Missense_Mutation_p.R812W|MADD_uc001nex.2_Missense_Mutation_p.R855W|MADD_uc001nez.2_Missense_Mutation_p.R812W|MADD_uc001new.2_Missense_Mutation_p.R855W	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	855					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)		CAGCCTCTATCGGAACCACAG	0.522												
OR4C46	119749	broad.mit.edu	37	11	51515609	51515609	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:51515609G>T	uc010ric.1	+	1	328	c.328G>T	c.(328-330)GGC>TGC	p.G110C		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	110	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						AGGTGCAGAGGGCATCCTACT	0.468												
OR5D13	390142	broad.mit.edu	37	11	55541473	55541473	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:55541473T>C	uc010ril.1	+	1	560	c.560T>C	c.(559-561)GTT>GCT	p.V187A		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D,	187	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3		all_epithelial(135;0.196)				TCTGTAATTGTTTCTGCCTCC	0.378												
OR5A1	219982	broad.mit.edu	37	11	59211096	59211096	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:59211096A>G	uc001nnx.1	+	1	455	c.455A>G	c.(454-456)TAT>TGT	p.Y152C		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A,	152	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)	2						GTTGGGGCATATGTTGGTGGC	0.547												
DAK	26007	broad.mit.edu	37	11	61110054	61110054	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:61110054C>T	uc001nre.2	+	9	956	c.699C>T	c.(697-699)ACC>ACT	p.T233T	DDB1_uc010rlf.1_5'Flank|DAK_uc009ynm.1_Silent_p.T163T	NM_015533	NP_056348	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2	233	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding				0						AGATGGCAACCGCCGATGAGA	0.617												
RAB3IL1	5866	broad.mit.edu	37	11	61672063	61672063	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:61672063G>A	uc001nso.2	-	7	1012	c.854C>T	c.(853-855)ACG>ATG	p.T285M	RAB3IL1_uc001nsp.2_Missense_Mutation_p.T259M	NM_013401	NP_037533	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	285							protein binding			skin(2)|central_nervous_system(1)	3						TGTGGGCAGCGTCTGCGAAGC	0.637												
INCENP	3619	broad.mit.edu	37	11	61897874	61897874	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:61897874C>T	uc001nsw.1	+	4	1077	c.875C>T	c.(874-876)ACG>ATG	p.T292M	INCENP_uc009ynv.2_Missense_Mutation_p.T292M|INCENP_uc009ynw.1_Missense_Mutation_p.T292M|INCENP_uc001nsx.1_Missense_Mutation_p.T292M	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	292					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			lung(1)	1						AACTTCTCCACGCCCACGGGC	0.647												
AHNAK	79026	broad.mit.edu	37	11	62286120	62286120	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:62286120C>T	uc001ntl.2	-	5	16069	c.15769G>A	c.(15769-15771)GCC>ACC	p.A5257T	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	5257					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GGTAGCTGGGCATGGACCTCG	0.527												
AHNAK	79026	broad.mit.edu	37	11	62299988	62299988	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:62299988G>T	uc001ntl.2	-	5	2201	c.1901C>A	c.(1900-1902)CCC>CAC	p.P634H	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	634					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)				GCTGAACGTGGGCATTTTCAT	0.507												
HNRNPUL2	221092	broad.mit.edu	37	11	62491094	62491094	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:62491094C>T	uc001nuw.2	-	4	1049	c.856G>A	c.(856-858)GGA>AGA	p.G286R	HNRNPUL2_uc001nuu.1_RNA	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like	286	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding				0						TTTGTCACTCCGTAAGTACTC	0.438												
PLA2G16	11145	broad.mit.edu	37	11	63357621	63357621	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:63357621C>T	uc001nxh.2	-	3	761	c.338G>A	c.(337-339)TGC>TAC	p.C113Y	PLA2G16_uc001nxi.2_Missense_Mutation_p.C125Y|PLA2G16_uc009you.1_Missense_Mutation_p.C113Y	NM_007069	NP_009000	P53816	PAG16_HUMAN	HRAS-like suppressor 3	113				C->S: No effect on PPP2R1A-binding.	lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			ovary(1)	1						AAAGTGCTCGCAGTTCTCACT	0.602												
MARK2	2011	broad.mit.edu	37	11	63667452	63667452	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:63667452C>T	uc001nxw.2	+	8	1217	c.638C>T	c.(637-639)CCC>CTC	p.P213L	MARK2_uc001nxx.2_Missense_Mutation_p.P213L|MARK2_uc001nxy.2_Missense_Mutation_p.P213L|MARK2_uc001nxv.3_Missense_Mutation_p.P213L|MARK2_uc001nxz.3_Missense_Mutation_p.P180L|MARK2_uc009yoy.2_Missense_Mutation_p.P180L	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	213	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)|ovary(1)|lung(1)	3						TGTGGCAGTCCCCCTTATGCT	0.493												
SCYL1	57410	broad.mit.edu	37	11	65294590	65294590	+	Splice_Site	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:65294590T>C	uc001oea.1	+	6	926	c.849_splice	c.e6+2	p.Q283_splice	SCYL1_uc009yqk.2_Splice_Site_p.Q283_splice|SCYL1_uc001oeb.1_Splice_Site_p.Q283_splice|SCYL1_uc001oec.1_Splice_Site_p.Q283_splice|SCYL1_uc001oed.1_Splice_Site_p.Q140_splice	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	SCY1-like 1 isoform A						regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			skin(1)	1						GAGATTCAGGTGAGCCCCCAA	0.527												
LTBP3	4054	broad.mit.edu	37	11	65319752	65319752	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:65319752C>T	uc001oej.2	-	7	1581	c.1312G>A	c.(1312-1314)GCG>ACG	p.A438T	LTBP3_uc010roi.1_Missense_Mutation_p.A321T|LTBP3_uc001oei.2_Missense_Mutation_p.A438T|LTBP3_uc010roj.1_Missense_Mutation_p.A139T|LTBP3_uc010rok.1_Missense_Mutation_p.A349T	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding	438	TB 2.					extracellular region	calcium ion binding|growth factor binding			central_nervous_system(2)|lung(1)	3						TGACACCGCGCGCCCCAGGCC	0.642											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SIPA1	6494	broad.mit.edu	37	11	65409996	65409996	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:65409996G>A	uc001ofb.2	+	4	1037	c.870G>A	c.(868-870)CTG>CTA	p.L290L	SIPA1_uc010rom.1_Silent_p.L290L|SIPA1_uc001ofd.2_Silent_p.L290L	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	290					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						CACGGGGTCTGTCCCCAAGGA	0.667												
SIPA1	6494	broad.mit.edu	37	11	65417935	65417935	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:65417935G>A	uc001ofb.2	+	15	3134	c.2967G>A	c.(2965-2967)CAG>CAA	p.Q989Q	SIPA1_uc010rom.1_Silent_p.Q887Q|SIPA1_uc001ofd.2_Silent_p.Q989Q	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	989	Potential.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity				0						GGAAGCTGCAGGAGGACCTGC	0.632												
CTSW	1521	broad.mit.edu	37	11	65650127	65650127	+	Missense_Mutation	SNP	G	G	A	rs150421438		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:65650127G>A	uc001ogc.1	+	6	628	c.586G>A	c.(586-588)GTC>ATC	p.V196I	CTSW_uc001ogb.1_Missense_Mutation_p.V196I	NM_001335	NP_001326	P56202	CATW_HUMAN	cathepsin W preproprotein	196					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)	1				READ - Rectum adenocarcinoma(159;0.168)		CGGTGGCTTCGTCTGGGACGC	0.637												
TSGA10IP	254187	broad.mit.edu	37	11	65721060	65721060	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:65721060C>T	uc001ogk.1	+	7	1206	c.1174C>T	c.(1174-1176)CGG>TGG	p.R392W	TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_RNA	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein	392	Potential.										0						GGCCTGGGAGCGGCAGCGGCA	0.697												
CATSPER1	117144	broad.mit.edu	37	11	65792833	65792833	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:65792833C>T	uc001ogt.2	-	1	1156	c.1018G>A	c.(1018-1020)GGC>AGC	p.G340S		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	sperm-associated cation channel 1	340	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			ovary(2)	2						GCAGCAGGGCCGGGGGCATCG	0.597												
NPAS4	266743	broad.mit.edu	37	11	66188741	66188741	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:66188741G>A	uc001ohx.1	+	1	267	c.91G>A	c.(91-93)GAA>AAA	p.E31K	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	31	Potential.|Helix-loop-helix motif.				transcription, DNA-dependent		DNA binding|signal transducer activity				0						GCCGCTGGCCGAAGCGGACAA	0.657												
SPTBN2	6712	broad.mit.edu	37	11	66460509	66460509	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:66460509G>T	uc001ojd.2	-	24	4989	c.4917C>A	c.(4915-4917)GAC>GAA	p.D1639E		NM_006946	NP_008877	O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1639	Spectrin 13.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			large_intestine(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						TCTGCGCGTAGTCGGCCAGGG	0.662												
LRFN4	78999	broad.mit.edu	37	11	66625483	66625483	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:66625483C>T	uc001ojr.2	+	1	608	c.268C>T	c.(268-270)CGC>TGC	p.R90C	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Missense_Mutation_p.R90C|LRFN4_uc001ojs.2_Missense_Mutation_p.R90C	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III	90	Extracellular (Potential).|LRR 2.					integral to membrane					0						CATTGGGGCCCGCGCCTTTGG	0.657												
KDM2A	22992	broad.mit.edu	37	11	67021875	67021875	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:67021875A>G	uc001ojw.2	+	20	4157	c.3293A>G	c.(3292-3294)GAG>GGG	p.E1098G	KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.E792G|KDM2A_uc001ojz.1_Missense_Mutation_p.E556G|KDM2A_uc001oka.2_Missense_Mutation_p.E222G	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	F-box and leucine-rich repeat protein 11	1098	LRR 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			ovary(4)|lung(3)|breast(1)|skin(1)	9						TCTCTCACAGAGCTCAATATG	0.537												
SHANK2	22941	broad.mit.edu	37	11	70332482	70332482	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:70332482A>T	uc001oqc.2	-	21	3994	c.3916T>A	c.(3916-3918)TCC>ACC	p.S1306T	SHANK2_uc010rqn.1_Missense_Mutation_p.S718T|SHANK2_uc001opz.2_Missense_Mutation_p.S711T|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	927					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTCTGCTGGGACGTGTCCATG	0.597												
ARHGEF17	9828	broad.mit.edu	37	11	73074493	73074493	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:73074493G>A	uc001otu.2	+	15	5260	c.5239G>A	c.(5239-5241)GAT>AAT	p.D1747N		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1747					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity				0						GGGCACTGAGGATGGCTGGTA	0.647												
P4HA3	283208	broad.mit.edu	37	11	74015430	74015430	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:74015430A>G	uc001ouz.2	-	2	271	c.228T>C	c.(226-228)CAT>CAC	p.H76H	P4HA3_uc001ouy.3_RNA|P4HA3_uc010rrj.1_Silent_p.H76H	NM_182904	NP_878907	Q7Z4N8	P4HA3_HUMAN	prolyl 4-hydroxylase, alpha III subunit	76						endoplasmic reticulum lumen	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-proline 4-dioxygenase activity			skin(1)	1	Breast(11;2.31e-05)					TTGAATCCTCATGCAAAGAAA	0.478												
CAPN5	726	broad.mit.edu	37	11	76825449	76825449	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:76825449G>C	uc001oxx.2	+	5	853	c.668G>C	c.(667-669)AGC>ACC	p.S223T	CAPN5_uc009yup.2_Missense_Mutation_p.S263T|CAPN5_uc009yuq.2_Missense_Mutation_p.S259T|CAPN5_uc001oxy.2_Missense_Mutation_p.S263T	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	223	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0						AAGGTGCACAGCCGGGGCGGC	0.587											OREG0021255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PCF11	51585	broad.mit.edu	37	11	82877707	82877707	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:82877707A>C	uc001ozx.3	+	5	2113	c.1768A>C	c.(1768-1770)AGT>CGT	p.S590R	PCF11_uc010rsu.1_Missense_Mutation_p.S590R	NM_015885	NP_056969	O94913	PCF11_HUMAN	pre-mRNA cleavage complex II protein Pcf11	590					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				ovary(1)	1						AAACTGGCAAAGTTCCAAGTC	0.373												
CTSC	1075	broad.mit.edu	37	11	88045562	88045562	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:88045562T>C	uc001pck.3	-	3	580	c.479A>G	c.(478-480)CAG>CGG	p.Q160R	CTSC_uc001pcl.3_Intron	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	160					immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCACTTTTCCTGAGAATTCTT	0.368												
GRM5	2915	broad.mit.edu	37	11	88300827	88300827	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:88300827C>A	uc001pcq.2	-	7	2224	c.2024G>T	c.(2023-2025)GGC>GTC	p.G675V	GRM5_uc009yvm.2_Missense_Mutation_p.G675V	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	675	Cytoplasmic (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTTCTTGCTGCCAGCCAGGAT	0.478												
GRM5	2915	broad.mit.edu	37	11	88780392	88780392	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:88780392C>T	uc001pcq.2	-	1	849	c.649G>A	c.(649-651)GTG>ATG	p.V217M	GRM5_uc009yvm.2_Missense_Mutation_p.V217M|GRM5_uc009yvn.1_Missense_Mutation_p.V217M	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5 isoform a	217	Extracellular (Potential).				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTGTGTGCACGGCTGATACA	0.413												
GUCY1A2	2977	broad.mit.edu	37	11	106579331	106579331	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:106579331C>T	uc001pjg.1	-	7	2288	c.1898G>A	c.(1897-1899)CGT>CAT	p.R633H	GUCY1A2_uc010rvo.1_Missense_Mutation_p.R654H|GUCY1A2_uc009yxn.1_Missense_Mutation_p.R664H	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	633	Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CAGGCAATAACGTGGCATTCG	0.468												
ATM	472	broad.mit.edu	37	11	108114793	108114793	+	Nonsense_Mutation	SNP	G	G	T	rs147915571		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:108114793G>T	uc001pkb.1	+	6	995	c.610G>T	c.(610-612)GGA>TGA	p.G204*	ATM_uc009yxr.1_Nonsense_Mutation_p.G204*	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	204					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TCAGACTGACGGATTAAATTC	0.348			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
ATM	472	broad.mit.edu	37	11	108155113	108155113	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:108155113T>C	uc001pkb.1	+	26	4291	c.3906T>C	c.(3904-3906)GGT>GGC	p.G1302G	ATM_uc009yxr.1_Silent_p.G1302G	NM_000051	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated isoform 1	1302					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.V1292_Q1331del(1)		haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCTATGAGGGTACCAGAGACA	0.393			D|Mis|N|F|S		T-PLL	leukemia|lymphoma|medulloblastoma|glioma		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Ataxia_Telangiectasia	TSP Lung(14;0.12)		
DDX10	1662	broad.mit.edu	37	11	108709179	108709179	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:108709179G>T	uc001pkm.2	+	14	2037	c.1972G>T	c.(1972-1974)GAA>TAA	p.E658*	DDX10_uc001pkl.1_Nonsense_Mutation_p.E658*	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	658				E -> D (in Ref. 1; AAC50823).			ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		ACAGAAGAAAGAACCTTCTAA	0.308			T	NUP98	AML*							
BCO2	83875	broad.mit.edu	37	11	112071463	112071463	+	Silent	SNP	G	G	A	rs139911945	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:112071463G>A	uc001pnf.2	+	7	1110	c.993G>A	c.(991-993)ACG>ACA	p.T331T	BCO2_uc001pne.1_Silent_p.T158T|BCO2_uc001png.2_Silent_p.T258T|BCO2_uc001pnh.2_Silent_p.T297T|BCO2_uc010rwt.1_Silent_p.T226T|BCO2_uc009yyn.2_Silent_p.T297T|BCO2_uc001pni.2_Silent_p.T297T	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	331					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0						AGTGTAATACGCGGTTTCATG	0.398												
ATP5L	10632	broad.mit.edu	37	11	118272414	118272414	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:118272414A>G	uc001psx.2	+	1	311	c.34A>G	c.(34-36)ACC>GCC	p.T12A		NM_006476	NP_006467	O75964	ATP5L_HUMAN	ATP synthase, H+ transporting, mitochondrial F0	12					ATP catabolic process|respiratory electron transport chain	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|protein binding				0	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;3.07e-05)		TGTGGAGAAGACCCCGGCGCT	0.667												
MLL	4297	broad.mit.edu	37	11	118343133	118343133	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:118343133G>A	uc001pta.2	+	3	1282	c.1259G>A	c.(1258-1260)CGG>CAG	p.R420Q	MLL_uc001ptb.2_Missense_Mutation_p.R420Q|MLL_uc001psz.1_Missense_Mutation_p.R453Q|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	420					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		ATCTCCTCGCGGATCATTAAG	0.448			T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL							
ABCG4	64137	broad.mit.edu	37	11	119025561	119025561	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:119025561C>T	uc001pvs.2	+	6	958	c.622C>T	c.(622-624)CGT>TGT	p.R208C	ABCG4_uc009zar.2_Missense_Mutation_p.R208C	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	ATP-binding cassette, subfamily G, member 4	208	Cytoplasmic (Potential).|ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			ovary(2)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCAGAGGAAGCGTCTGGCCAT	0.622												
NLRX1	79671	broad.mit.edu	37	11	119052945	119052945	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:119052945C>A	uc001pvu.2	+	9	2712	c.2497C>A	c.(2497-2499)CGC>AGC	p.R833S	NLRX1_uc001pvv.2_Missense_Mutation_p.R833S|NLRX1_uc001pvw.2_Missense_Mutation_p.R833S|NLRX1_uc001pvx.2_Missense_Mutation_p.R833S	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	NLR family member X1 isoform 1	833	LRR 5.|Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			ovary(1)|skin(1)	2	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCAGCTGGACCGCAACCGGCA	0.677												
THY1	7070	broad.mit.edu	37	11	119290951	119290951	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:119290951G>A	uc001pwq.2	-	2	217	c.183C>T	c.(181-183)CAC>CAT	p.H61H	uc001pwo.2_Intron|uc001pwp.1_Intron|THY1_uc001pwr.2_Silent_p.H61H|THY1_uc001pws.2_RNA	NM_006288	NP_006279	P04216	THY1_HUMAN	Thy-1 cell surface antigen preproprotein	61	Ig-like V-type.				angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|negative regulation of T cell receptor signaling pathway|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell activation|retinal cone cell development|T cell receptor signaling pathway	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|integrin binding|Rho GTPase activator activity				0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		CAAAGAGCACGTGCTTCTTTG	0.547												
TBCEL	219899	broad.mit.edu	37	11	120930727	120930727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:120930727C>T	uc009zay.2	+	7	967	c.889C>T	c.(889-891)CGA>TGA	p.R297*	TBCEL_uc001pxo.2_Nonsense_Mutation_p.R297*|TBCEL_uc001pxp.2_Nonsense_Mutation_p.R153*|TBCEL_uc001pxq.2_RNA	NM_001130047	NP_001123519	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	297	LRRCT.					cytoplasm|cytoskeleton				skin(1)	1		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TGATGGTGAACGAGAAGATTC	0.333												
SCN3B	55800	broad.mit.edu	37	11	123513213	123513213	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:123513213T>C	uc001pza.1	-	4	793	c.386A>G	c.(385-387)GAG>GGG	p.E129G	SCN3B_uc001pzb.1_Missense_Mutation_p.E129G	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN	voltage-gated sodium channel beta-3 subunit	129	Ig-like C2-type.|Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		CCGATGCGCCTCAAACTCAAA	0.597												
OR8G2	26492	broad.mit.edu	37	11	124095415	124095415	+	Silent	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:124095415C>A	uc010saf.1	+	1	18	c.18C>A	c.(16-18)TCC>TCA	p.S6S		NM_001007249	NP_001007250	Q15614	OR8G2_HUMAN	olfactory receptor, family 8, subfamily G,	6						integral to membrane	olfactory receptor activity				0		Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TTCTTTCCTCCGTAGAAACTG	0.473												
OR8B3	390271	broad.mit.edu	37	11	124266650	124266650	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:124266650G>A	uc010saj.1	-	1	598	c.598C>T	c.(598-600)CTC>TTC	p.L200F	OR8B2_uc001qab.3_Intron	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B,	200	Helical; Name=5; (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)		ACAACAATGAGAACAACCACC	0.428												
FEZ1	9638	broad.mit.edu	37	11	125324074	125324074	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:125324074C>T	uc001qbx.2	-	7	1124	c.972G>A	c.(970-972)CTG>CTA	p.L324L	FEZ1_uc001qbw.2_Silent_p.L114L	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	zygin 1 isoform 1	324					axon guidance|cell adhesion|transport	microtubule|plasma membrane				central_nervous_system(3)|ovary(1)	4	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TGCCACTCTGCAGAATGTTGG	0.557												
ARHGAP32	9743	broad.mit.edu	37	11	128840449	128840449	+	Silent	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:128840449G>T	uc009zcp.2	-	22	4617	c.4617C>A	c.(4615-4617)GCC>GCA	p.A1539A	ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.A498A|ARHGAP32_uc001qez.2_Silent_p.A1190A	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	1539	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						TTCTTCCTGGGGCCACATATG	0.527												
ARHGAP32	9743	broad.mit.edu	37	11	129062071	129062071	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:129062071C>T	uc009zcp.2	-	1	23	c.23G>A	c.(22-24)AGC>AAC	p.S8N		NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN	Rho GTPase-activating protein isoform 1	8					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			lung(3)|ovary(2)	5						CCCTAAAGTGCTACTCTCACT	0.403												
ADAMTS8	11095	broad.mit.edu	37	11	130281444	130281444	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:130281444G>A	uc001qgg.3	-	6	1976	c.1618C>T	c.(1618-1620)CGG>TGG	p.R540W	ADAMTS8_uc001qgf.2_Missense_Mutation_p.R21W	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	540	TSP type-1 1.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCACAGGTCCGAGAACATTCT	0.582												
GLB1L3	112937	broad.mit.edu	37	11	134153716	134153716	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:134153716A>G	uc009zdf.2	+	6	973	c.613A>G	c.(613-615)ATT>GTT	p.I205V	GLB1L3_uc010scs.1_Missense_Mutation_p.I205V|GLB1L3_uc010sct.1_Missense_Mutation_p.I57V	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1 like 3	205					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			pancreas(1)	1	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TGACCACCTGATTCCCAGAGT	0.493												
IQSEC3	440073	broad.mit.edu	37	12	248455	248455	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:248455G>A	uc001qhw.1	+	1	1023	c.1017G>A	c.(1015-1017)TCG>TCA	p.S339S	IQSEC3_uc001qhu.1_Silent_p.S339S|IQSEC3_uc001qht.1_Silent_p.S424S|uc001qhv.1_Intron	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	642					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|large_intestine(1)|skin(1)	4	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GCTGCAAGTCGCCCACGCTCT	0.682												
ANO2	57101	broad.mit.edu	37	12	5963246	5963246	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:5963246T>C	uc001qnm.2	-	4	656	c.584A>G	c.(583-585)GAG>GGG	p.E195G		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	199	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7						GAATTCTGCCTCTCTGGCCAG	0.473												
NOP2	4839	broad.mit.edu	37	12	6669713	6669713	+	Translation_Start_Site	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:6669713C>T	uc001qpj.1	-	4	284	c.-265G>A	c.(-267--263)CTGTG>CTATG		NOP2_uc009zeq.1_Missense_Mutation_p.C199Y|NOP2_uc001qph.1_Missense_Mutation_p.C483Y|NOP2_uc001qpi.1_Missense_Mutation_p.C483Y			P46087	NOP2_HUMAN	Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.						positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			ovary(2)	2						GAGGTGAGCACAGCGCAGGAT	0.547												
CD4	920	broad.mit.edu	37	12	6925423	6925423	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:6925423C>A	uc001qqv.1	+	6	1054	c.809C>A	c.(808-810)CCT>CAT	p.P270H	CD4_uc009zez.1_3'UTR|CD4_uc009zfa.1_RNA|CD4_uc009zfb.1_RNA|CD4_uc010sfj.1_5'UTR|CD4_uc009zfc.1_Missense_Mutation_p.P91H|CD4_uc010sfk.1_5'UTR|CD4_uc010sfl.1_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	CD4 antigen precursor	270	Extracellular (Potential).|Ig-like C2-type 2.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding				0		Myeloproliferative disorder(1001;0.0122)				ACCCAGGACCCTAAGCTCCAG	0.587												
SLC2A3	6515	broad.mit.edu	37	12	8083159	8083159	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:8083159A>G	uc001qtr.2	-	5	852	c.590T>C	c.(589-591)CTA>CCA	p.L197P	SLC2A3_uc001qts.2_Missense_Mutation_p.L197P	NM_006931	NP_008862	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose	197	Helical; Name=6; (Potential).				carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			ovary(3)|pancreas(1)	4				Kidney(36;0.0866)		TGCACTTTGTAGGATAGCAGG	0.443												
CLEC4A	50856	broad.mit.edu	37	12	8288248	8288248	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:8288248T>C	uc001qtz.1	+	4	613	c.366T>C	c.(364-366)ACT>ACC	p.T122T	CLEC4A_uc009zga.1_Silent_p.T83T|CLEC4A_uc001qub.1_Silent_p.T89T|CLEC4A_uc001quc.1_Silent_p.T50T|CLEC4A_uc009zgb.1_Intron|uc010sgi.1_5'Flank	NM_016184	NP_057268	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A isoform	122	Extracellular (Potential).|C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity				0				Kidney(36;0.0915)		TTATTTCTACTGAATCAGCAT	0.443												
FAM90A1	55138	broad.mit.edu	37	12	8375189	8375189	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:8375189G>A	uc001qui.2	-	7	1183	c.624C>T	c.(622-624)GCC>GCT	p.A208A	FAM90A1_uc001quh.2_Silent_p.A208A	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	208							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)		GAGGGATGTCGGCCGCAGCCC	0.617												
A2M	2	broad.mit.edu	37	12	9251308	9251308	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:9251308G>A	uc001qvk.1	-	15	1859	c.1746C>T	c.(1744-1746)CAC>CAT	p.H582H	A2M_uc009zgk.1_Silent_p.H432H	NM_000014	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin precursor	582					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			central_nervous_system(4)|skin(1)	5					Bacitracin(DB00626)|Becaplermin(DB00102)	GCAGGTGGGCGTGTGAGGCTG	0.547												
KLRD1	3824	broad.mit.edu	37	12	10460612	10460612	+	Translation_Start_Site	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:10460612C>T	uc001qxw.3	+	2	133	c.-64C>T	c.(-66--62)AACGC>AATGC		KLRD1_uc001qxx.3_Translation_Start_Site|KLRD1_uc001qxy.3_Translation_Start_Site|KLRD1_uc009zhh.2_Translation_Start_Site|KLRD1_uc009zhi.2_Translation_Start_Site|KLRD1_uc001qxz.3_Translation_Start_Site	NM_001114396	NP_001107868	Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D,						cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity				0						AACAATTCAACGCTGTTCTTT	0.333												
PRB2	653247	broad.mit.edu	37	12	11546301	11546301	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:11546301A>G	uc010shk.1	-	3	746	c.711T>C	c.(709-711)TCT>TCC	p.S237S		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTCCTGGAGGAGATCGGGCAC	0.612												
DUSP16	80824	broad.mit.edu	37	12	12630318	12630318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:12630318G>A	uc001rao.1	-	7	2079	c.1447C>T	c.(1447-1449)CGA>TGA	p.R483*	DUSP16_uc001ram.1_5'Flank|DUSP16_uc001ran.1_Nonsense_Mutation_p.R335*	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	483					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GAATGCAATCGCTTGCTCTGG	0.572												
GRIN2B	2904	broad.mit.edu	37	12	13716856	13716856	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:13716856C>T	uc001rbt.2	-	13	3495	c.3316G>A	c.(3316-3318)GAG>AAG	p.E1106K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1106	Cytoplasmic (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.E1106K(1)		central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGGCCAGCTCGATCTCGTCA	0.617												
PLBD1	79887	broad.mit.edu	37	12	14659149	14659149	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:14659149G>A	uc001rcc.1	-	10	1587	c.1426C>T	c.(1426-1428)CGT>TGT	p.R476C		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	476					lipid catabolic process	extracellular region	hydrolase activity				0						AGGTCCTCACGGCAGCAGATG	0.443												
ABCC9	10060	broad.mit.edu	37	12	21968783	21968783	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:21968783T>C	uc001rfi.1	-	32	3957	c.3937A>G	c.(3937-3939)AAG>GAG	p.K1313E	ABCC9_uc001rfh.2_Missense_Mutation_p.K1313E|ABCC9_uc001rfj.1_Missense_Mutation_p.K1277E	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	1313	Cytoplasmic (Potential).|ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCATGTATCTTGATCTCCCCT	0.408												
ABCC9	10060	broad.mit.edu	37	12	22068751	22068751	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:22068751G>T	uc001rfi.1	-	5	687	c.667C>A	c.(667-669)CTG>ATG	p.L223M	ABCC9_uc001rfh.2_Missense_Mutation_p.L223M|ABCC9_uc001rfj.1_Missense_Mutation_p.L223M	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	223	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCTTTTGACAGCAAATTCACA	0.393												
ITPR2	3709	broad.mit.edu	37	12	26580933	26580933	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:26580933A>G	uc001rhg.2	-	49	7275	c.6858T>C	c.(6856-6858)GGT>GGC	p.G2286G	ITPR2_uc009zjg.1_Silent_p.G437G	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2286	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)					ACGGCCGAATACCCACAGGCT	0.398												
ALG10	84920	broad.mit.edu	37	12	34177054	34177054	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:34177054T>C	uc001rlm.2	+	2	648	c.329T>C	c.(328-330)TTA>TCA	p.L110S		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	asparagine-linked glycosylation 10 homolog	110	Helical; (Potential).				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			skin(1)	1	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				AACTTCTATTTACTATATTTG	0.363												
GXYLT1	283464	broad.mit.edu	37	12	42491723	42491723	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:42491723A>G	uc001rms.3	-	6	1202	c.977T>C	c.(976-978)TTT>TCT	p.F326S	GXYLT1_uc001rmt.3_Missense_Mutation_p.F295S	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	glycosyltransferase 8 domain containing 3	326	Lumenal (Potential).				O-glycan processing	integral to membrane	UDP-xylosyltransferase activity				0						TGGATTATGAAAAAACACGAT	0.299												
HDAC7	51564	broad.mit.edu	37	12	48189994	48189994	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:48189994G>A	uc009zkv.1	-	6	889	c.674C>T	c.(673-675)TCG>TTG	p.S225L	HDAC7_uc001rqe.2_5'Flank|HDAC7_uc010slo.1_Missense_Mutation_p.S264L|HDAC7_uc001rqj.3_Missense_Mutation_p.S264L|HDAC7_uc001rqk.3_Missense_Mutation_p.S247L			Q8WUI4	HDAC7_HUMAN	Synthetic construct DNA, clone: pF1KB0470, Homo sapiens HDAC7 gene for histone deacetylase 7, without stop codon, in Flexi system.	225	Transcription repression 1 (By similarity).|Transcription repression 2 (By similarity).			Missing (in Ref. 1; AAF63491).	negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			lung(1)|breast(1)	2				GBM - Glioblastoma multiforme(48;0.137)		CCTTACCTCCGAGCCCAGGAT	0.662												
COL2A1	1280	broad.mit.edu	37	12	48391985	48391985	+	Splice_Site	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:48391985C>A	uc001rqu.2	-	4	491	c.310_splice	c.e4-1	p.G104_splice	COL2A1_uc001rqv.2_Splice_Site_p.G35_splice	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor						axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTTTCTGTCCCTGAAACATGA	0.478												
ADCY6	112	broad.mit.edu	37	12	49177093	49177093	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:49177093C>T	uc001rsh.3	-	1	785	c.125G>A	c.(124-126)CGC>CAC	p.R42H	ADCY6_uc001rsj.3_Missense_Mutation_p.R42H|ADCY6_uc001rsi.3_Missense_Mutation_p.R42H	NM_015270	NP_056085	O43306	ADCY6_HUMAN	adenylate cyclase 6 isoform a	42	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding				0						GCTCATATAGCGGGGCGTGCA	0.682												
DDX23	9416	broad.mit.edu	37	12	49230000	49230000	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:49230000C>T	uc001rsm.2	-	11	1377	c.1286G>A	c.(1285-1287)CGT>CAT	p.R429H		NM_004818	NP_004809	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	429	Helicase ATP-binding.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			kidney(3)|ovary(1)|lung(1)|skin(1)	6						AATGATGTCACGATTCTGTAG	0.507												
MLL2	8085	broad.mit.edu	37	12	49440558	49440559	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:49440558_49440559GC>AT	uc001rta.3	-	15	4251_4252	c.4251_4252GC>AT	c.(4249-4254)ATGCTG>ATATTG	p.M1417I		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	1417	Cys-rich.|PHD-type 3.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						CCCTTGAGCAGCATCACCTTGG	0.46			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)		
PRPH	5630	broad.mit.edu	37	12	49691041	49691041	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:49691041C>T	uc001rtu.2	+	5	1056	c.981C>T	c.(979-981)GAC>GAT	p.D327D		NM_006262	NP_006253	P41219	PERI_HUMAN	peripherin	327	Coil 2.|Rod.						structural molecule activity				0						GCGAGGTGGACGGGCTGCGCG	0.652											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KRT84	3890	broad.mit.edu	37	12	52774338	52774338	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:52774338C>T	uc001sah.1	-	7	1281	c.1233G>A	c.(1231-1233)GAG>GAA	p.E411E		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	keratin, hair, basic, 4	411	Rod.|Coil 2.					keratin filament	structural constituent of epidermis			skin(1)	1	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTGCTCGGCCTCGGCCACTG	0.642											OREG0021848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KRT77	374454	broad.mit.edu	37	12	53097189	53097189	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:53097189C>T	uc001saw.2	-	1	59	c.30G>A	c.(28-30)GCG>GCA	p.A10A	KRT77_uc009zmi.2_5'UTR	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	keratin 77	10	Head.					keratin filament	structural molecule activity			ovary(1)	1						TTGAACTAAACGCGGACTGAG	0.542												
HOXC8	3224	broad.mit.edu	37	12	54403113	54403113	+	Silent	SNP	C	C	T	rs142847294	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:54403113C>T	uc001ser.2	+	1	224	c.45C>T	c.(43-45)GCC>GCT	p.A15A		NM_022658	NP_073149	P31273	HXC8_HUMAN	homeobox C8	15						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1						AATACAAAGCCGGCGAGTCCC	0.662												
SMUG1	23583	broad.mit.edu	37	12	54577528	54577528	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:54577528C>T	uc001sff.1	-	3	326	c.197G>A	c.(196-198)CGC>CAC	p.R66H	SMUG1_uc001sfa.1_5'Flank|SMUG1_uc001sfe.1_Missense_Mutation_p.R66H|SMUG1_uc001sfg.1_Missense_Mutation_p.R66H|SMUG1_uc009znf.1_Missense_Mutation_p.R66H|SMUG1_uc001sfb.3_Missense_Mutation_p.R66H|SMUG1_uc001sfc.3_Missense_Mutation_p.R66H|SMUG1_uc001sfd.3_Missense_Mutation_p.R66H	NM_014311	NP_055126	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional	66				Missing (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity				0						CACGTAGTTGCGATGTGGCTC	0.572								BER_DNA_glycosylases				
ITGA5	3678	broad.mit.edu	37	12	54812875	54812875	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:54812875T>C	uc001sga.2	-	1	176	c.108A>G	c.(106-108)CCA>CCG	p.P36P	ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	36					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			ovary(2)	2						CGACCCTGGGTGgcggcggca	0.592												
DCD	117159	broad.mit.edu	37	12	55039032	55039032	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:55039032C>T	uc001sgj.2	-	4	276	c.214G>A	c.(214-216)GGA>AGA	p.G72R	DCD_uc009znt.2_Missense_Mutation_p.G72R|DCD_uc009znu.2_RNA	NM_053283	NP_444513	P81605	DCD_HUMAN	dermcidin preproprotein	72					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	protein binding			ovary(1)	1		Myeloproliferative disorder(1001;0.0255)				TTTTTTGCTCCGTCTAGGCCT	0.483												
SUOX	6821	broad.mit.edu	37	12	56397746	56397746	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:56397746G>A	uc001six.2	+	6	899	c.573G>A	c.(571-573)CAG>CAA	p.Q191Q	SUOX_uc001siy.2_Silent_p.Q191Q|SUOX_uc001siz.2_Silent_p.Q191Q|SUOX_uc001sja.2_Silent_p.Q191Q	NM_000456	NP_000447	P51687	SUOX_HUMAN	sulfite oxidase precursor	191	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			TCAACAGCCAGCGGCCCTTTA	0.557												
MIP	4284	broad.mit.edu	37	12	56847487	56847487	+	Missense_Mutation	SNP	G	G	A	rs121917867		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:56847487G>A	uc001slh.2	-	2	445	c.413C>T	c.(412-414)ACG>ATG	p.T138M		NM_012064	NP_036196	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	138	Helical; (By similarity).		T -> R (in ADC; progressive polymorphic and lamellar cataract; loss of activity).		response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			skin(1)	1						GAACTGGAGCGTCAGGAAGAT	0.612												
LGR5	8549	broad.mit.edu	37	12	71978276	71978276	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:71978276A>G	uc001swl.2	+	18	2534	c.2486A>G	c.(2485-2487)GAG>GGG	p.E829G	LGR5_uc001swm.2_Missense_Mutation_p.E805G|LGR5_uc001swn.1_RNA	NM_003667	NP_003658	O75473	LGR5_HUMAN	leucine-rich repeat-containing G protein-coupled	829	Cytoplasmic (Potential).					integral to plasma membrane	protein-hormone receptor activity			lung(4)|skin(3)|ovary(1)|pancreas(1)	9						CACTTTAAGGAGGATCTGGTG	0.428												
LRRIQ1	84125	broad.mit.edu	37	12	85554467	85554467	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:85554467G>A	uc001tac.2	+	24	4908	c.4797G>A	c.(4795-4797)CAG>CAA	p.Q1599Q		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1599										ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)		AGATGGTACAGCCCAGAAGAG	0.299												
C12orf50	160419	broad.mit.edu	37	12	88390245	88390245	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:88390245A>G	uc001tam.1	-	6	555	c.387T>C	c.(385-387)CAT>CAC	p.H129H	C12orf50_uc001tan.2_Silent_p.H183H	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	129										skin(2)|ovary(1)	3						CTGGAGGAGTATGAAATCTGT	0.318												
ATP2B1	490	broad.mit.edu	37	12	89992959	89992959	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:89992959C>A	uc001tbh.2	-	19	3467	c.3286G>T	c.(3286-3288)GCT>TCT	p.A1096S	ATP2B1_uc001tbg.2_Missense_Mutation_p.A1096S|ATP2B1_uc009zsr.2_RNA|ATP2B1_uc001tbf.2_Missense_Mutation_p.A730S	NM_001682	NP_001673	P20020	AT2B1_HUMAN	plasma membrane calcium ATPase 1 isoform 1b	1096	Cytoplasmic (Potential).				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3						TCCCTTTCAGCGTGATCAATC	0.458												
EPYC	1833	broad.mit.edu	37	12	91365683	91365683	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:91365683C>T	uc001tbk.2	-	5	689	c.596G>A	c.(595-597)CGT>CAT	p.R199H		NM_004950	NP_004941	Q99645	EPYC_HUMAN	dermatan sulfate proteoglycan 3 precursor	199	LRR 3.				female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			skin(1)	1						TTTGTTGTCACGCAGGACAAG	0.383												
ELK3	2004	broad.mit.edu	37	12	96640801	96640801	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:96640801G>A	uc001teo.1	+	3	570	c.291G>A	c.(289-291)GCG>GCA	p.A97A		NM_005230	NP_005221	P41970	ELK3_HUMAN	ELK3 protein	97					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	all_cancers(2;0.00173)					ATCCTCACGCGGTGGAGATCA	0.562												
C12orf42	374470	broad.mit.edu	37	12	103696165	103696165	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:103696165C>T	uc001tjt.2	-	6	892	c.804G>A	c.(802-804)GCG>GCA	p.A268A	C12orf42_uc001tjs.2_Intron|C12orf42_uc009zuf.1_Silent_p.A268A|C12orf42_uc001tju.2_Silent_p.A173A	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	hypothetical protein LOC374470	268										ovary(1)|central_nervous_system(1)	2						GATTTCCGGACGCGCCCAGGA	0.667												
APPL2	55198	broad.mit.edu	37	12	105600917	105600917	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:105600917G>T	uc001tlf.1	-	8	761	c.543C>A	c.(541-543)TAC>TAA	p.Y181*	APPL2_uc010swt.1_Nonsense_Mutation_p.Y138*|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Nonsense_Mutation_p.Y187*|APPL2_uc009zuq.2_Nonsense_Mutation_p.Y138*	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH	181	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			upper_aerodigestive_tract(1)	1						GGGCACAGTAGTACTGAAGGG	0.557												
WSCD2	9671	broad.mit.edu	37	12	108641980	108641980	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:108641980C>T	uc001tms.2	+	9	2302	c.1558C>T	c.(1558-1560)CGC>TGC	p.R520C	WSCD2_uc001tmt.2_Missense_Mutation_p.R520C|WSCD2_uc001tmu.2_Missense_Mutation_p.R288C	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	520						integral to membrane				ovary(1)|large_intestine(1)|breast(1)	3						CAACTTCAAGCGCTCAGGGCT	0.602												
KCTD10	83892	broad.mit.edu	37	12	109889606	109889606	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:109889606C>T	uc001toi.1	-	7	824	c.736G>A	c.(736-738)GAA>AAA	p.E246K	KCTD10_uc001toh.1_RNA|KCTD10_uc009zvi.1_Missense_Mutation_p.E220K|KCTD10_uc001toj.1_Missense_Mutation_p.E255K|KCTD10_uc001tok.1_Missense_Mutation_p.E65K	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	potassium channel tetramerisation domain	246					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity				0						ATCCGGGCTTCGGGAAACTCC	0.592												
MVK	4598	broad.mit.edu	37	12	110017685	110017685	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:110017685C>A	uc001toy.3	+	4	489	c.305C>A	c.(304-306)GCT>GAT	p.A102D	MVK_uc009zvk.2_Missense_Mutation_p.A102D|MVK_uc010sxr.1_Missense_Mutation_p.A102D|MVK_uc001toz.3_Intron|MVK_uc001tpc.3_RNA	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	mevalonate kinase	102					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity				0						GACGACTGTGCTGTCACCGAG	0.552												
NAA25	80018	broad.mit.edu	37	12	112481496	112481496	+	Missense_Mutation	SNP	C	C	T	rs116838734	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:112481496C>T	uc001ttm.2	-	18	2203	c.2183G>A	c.(2182-2184)CGT>CAT	p.R728H	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.R700H|NAA25_uc009zwa.1_Missense_Mutation_p.R728H	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	728						cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3						AAGGAGCAAACGAAGAATATC	0.468												
C12orf51	283450	broad.mit.edu	37	12	112717172	112717172	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:112717172A>G	uc009zwc.2	-	3	383	c.365T>C	c.(364-366)CTG>CCG	p.L122P		NM_001109662	NP_001103132			chromosome 12 open reading frame 51											ovary(1)|lung(1)	2						TTTTAGAGGCAGCCCACAGCT	0.443												
DDX54	79039	broad.mit.edu	37	12	113603710	113603710	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:113603710G>A	uc001tup.2	-	13	1570	c.1542C>T	c.(1540-1542)AAC>AAT	p.N514N	DDX54_uc001tuq.3_Silent_p.N514N	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	514					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			skin(2)|central_nervous_system(1)	3						GCTGCTGGGCGTTATCAGCAA	0.667												
LHX5	64211	broad.mit.edu	37	12	113906065	113906065	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:113906065C>A	uc001tvj.1	-	3	1116	c.542G>T	c.(541-543)CGC>CTC	p.R181L		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	LIM homeobox protein 5	181	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GCGGGGGCCGCGCCGCTTGGT	0.672												
TBX5	6910	broad.mit.edu	37	12	114841585	114841585	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:114841585G>A	uc001tvo.2	-	2	614	c.119C>T	c.(118-120)TCG>TTG	p.S40L	TBX5_uc001tvp.2_Missense_Mutation_p.S40L|TBX5_uc001tvq.2_Intron|TBX5_uc010syv.1_Missense_Mutation_p.S40L	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	40				GFGLAHTPLEPDAKDLPCDSKPESALGAPSKSPSSPQAAFT QQ -> ALAGAHLWSLTQKTCLRFEPRARSGPPASPPGRPR SRLHPA (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTGCGGGGACGACGGGGACTT	0.647												
RNF34	80196	broad.mit.edu	37	12	121854119	121854119	+	Missense_Mutation	SNP	C	C	T	rs61760895		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:121854119C>T	uc001ual.1	+	2	278	c.164C>T	c.(163-165)ACG>ATG	p.T55M	RNF34_uc010szw.1_Missense_Mutation_p.T56M|RNF34_uc001uak.1_Missense_Mutation_p.T56M|RNF34_uc001uam.1_Missense_Mutation_p.T55M	NM_025126	NP_079402	Q969K3	RNF34_HUMAN	ring finger protein 34 isoform 2	55					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		CCAGCAGCTACGGAAGGGCCC	0.483												
LRRC43	254050	broad.mit.edu	37	12	122677438	122677438	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:122677438G>A	uc009zxm.2	+	7	1261	c.1236G>A	c.(1234-1236)TCG>TCA	p.S412S	LRRC43_uc001ubw.3_Silent_p.S227S|LRRC43_uc009zxn.2_Silent_p.S173S	NM_001098519	NP_001091989	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43 isoform 1	412	Glu-rich.										0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CAGGAGAGTCGGAGCTGTCTG	0.562												
B3GNT4	79369	broad.mit.edu	37	12	122691022	122691022	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:122691022G>A	uc001ubx.2	+	3	442	c.224G>A	c.(223-225)CGG>CAG	p.R75Q	B3GNT4_uc001uby.2_Missense_Mutation_p.R50Q	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal	75	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			ovary(1)	1	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CGTCACAGCCGGTGTCCACCC	0.617												
GPR109A	338442	broad.mit.edu	37	12	123187448	123187448	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:123187448C>T	uc001ucx.1	-	1	457	c.383G>A	c.(382-384)CGG>CAG	p.R128Q	GPR81_uc001ucw.1_Intron	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN	G protein-coupled receptor 109A	128	Cytoplasmic (Potential).				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled				0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	Mepenzolate(DB04843)|Niacin(DB00627)	ATGGACCACCCGGAAATACCT	0.567												
DNAH10	196385	broad.mit.edu	37	12	124343781	124343781	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:124343781G>A	uc001uft.3	+	37	6386	c.6361G>A	c.(6361-6363)GTC>ATC	p.V2121I		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2121	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGGCAAGTCCGTCGTCATTAA	0.562												
AACS	65985	broad.mit.edu	37	12	125591695	125591695	+	Missense_Mutation	SNP	G	G	T	rs139116253		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:125591695G>T	uc001uhc.2	+	8	1002	c.796G>T	c.(796-798)GGC>TGC	p.G266C	AACS_uc009zyg.2_RNA|AACS_uc001uhd.2_Missense_Mutation_p.G266C|AACS_uc009zyh.2_RNA|AACS_uc009zyi.2_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	266					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			ovary(1)|liver(1)|central_nervous_system(1)	3	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TCTTGCCACCGGCACCAGTGA	0.607												
TMEM132D	121256	broad.mit.edu	37	12	129566363	129566363	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:129566363C>T	uc009zyl.1	-	7	2192	c.1864G>A	c.(1864-1866)GCC>ACC	p.A622T	TMEM132D_uc001uia.2_Missense_Mutation_p.A160T	NM_133448	NP_597705	Q14C87	T132D_HUMAN	transmembrane protein 132D precursor	622	Extracellular (Potential).					integral to membrane				ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGCAGCTTGGCGATCCTGGGC	0.542												
SFRS8	6433	broad.mit.edu	37	12	132241151	132241151	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:132241151C>T	uc001uja.1	+	11	1822	c.1682C>T	c.(1681-1683)TCG>TTG	p.S561L	SFRS8_uc010tbn.1_Missense_Mutation_p.S561L|SFRS8_uc001ujb.1_Missense_Mutation_p.S354L	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	561					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		AAGGAGGCATCGTCCAGTAAG	0.607												
XPO4	64328	broad.mit.edu	37	13	21429828	21429828	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:21429828T>C	uc001unq.3	-	4	430	c.394A>G	c.(394-396)ATT>GTT	p.I132V	XPO4_uc010tcr.1_Missense_Mutation_p.I58V	NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	exportin 4	132					protein transport	cytoplasm|nucleus	protein binding			large_intestine(1)|ovary(1)|kidney(1)	3		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TTGCAGTCAATTGATTTATCT	0.318												
RNF17	56163	broad.mit.edu	37	13	25367209	25367209	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:25367209A>G	uc001upr.2	+	10	1006	c.965A>G	c.(964-966)CAG>CGG	p.Q322R	RNF17_uc010tdd.1_Missense_Mutation_p.Q181R|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.Q322R|RNF17_uc001ups.2_Missense_Mutation_p.Q261R|RNF17_uc001upq.1_Missense_Mutation_p.Q322R	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	322					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	p.Q322Q(1)		ovary(1)|skin(1)	2		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GAAATTAGACAGAATGTTCAA	0.308												
NUPL1	9818	broad.mit.edu	37	13	25914139	25914139	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:25914139G>T	uc001uqi.2	+	16	1913	c.1667G>T	c.(1666-1668)AGC>ATC	p.S556I	NUPL1_uc001uqj.2_Missense_Mutation_p.S544I	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1 isoform a	556	14 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore					0		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		TTTAACTTCAGCAATCCTGGC	0.408												
FLT1	2321	broad.mit.edu	37	13	28913392	28913392	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:28913392G>T	uc001usb.3	-	17	2686	c.2401C>A	c.(2401-2403)CCA>ACA	p.P801T	FLT1_uc001usa.3_Missense_Mutation_p.P19T	NM_002019	NP_002010	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1 isoform 1	801	Cytoplasmic (Potential).				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ACTTCATCTGGGTCCATTATA	0.408												
FRY	10129	broad.mit.edu	37	13	32747633	32747633	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:32747633G>A	uc001utx.2	+	19	2777	c.2281G>A	c.(2281-2283)GTT>ATT	p.V761I	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	761					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				ovary(5)|large_intestine(1)|skin(1)	7		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAAACTGTCCGTTTTAATACT	0.463												
NBEA	26960	broad.mit.edu	37	13	35685067	35685067	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:35685067T>C	uc001uvb.2	+	14	2160	c.1954T>C	c.(1954-1956)TGG>CGG	p.W652R		NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	neurobeachin	652						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			ovary(9)|large_intestine(2)	11		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATATTACTACTGGGTTATTAA	0.363												
DNAJC15	29103	broad.mit.edu	37	13	43659911	43659911	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:43659911G>A	uc001uyy.2	+	5	720	c.319G>A	c.(319-321)GCT>ACT	p.A107T		NM_013238	NP_037370	Q9Y5T4	DJC15_HUMAN	DNAJ domain-containing	107	J.					integral to membrane	heat shock protein binding				0		Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737)		CAGCCCATCTGCTGGCAAGGC	0.308												
SERP2	387923	broad.mit.edu	37	13	44948177	44948177	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:44948177C>T	uc001uzj.2	+	1	200	c.16C>T	c.(16-18)CGG>TGG	p.R6W	SERP2_uc001uzk.2_RNA	NM_001010897	NP_001010897	Q8N6R1	SERP2_HUMAN	stress-associated endoplasmic reticulum protein	6	Cytoplasmic (Potential).				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane					0		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)		GGCCAAACAGCGGATCCGGAT	0.637												
SPERT	220082	broad.mit.edu	37	13	46287535	46287535	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:46287535C>T	uc001van.1	+	3	455	c.375C>T	c.(373-375)GAC>GAT	p.D125D	SPERT_uc001vao.2_Silent_p.D89D	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	spermatid associated	125						cytoplasmic membrane-bounded vesicle				central_nervous_system(1)|pancreas(1)	2		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		AGCTCAGCGACGAGATGTTCG	0.632												
SIAH3	283514	broad.mit.edu	37	13	46425671	46425671	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:46425671C>T	uc001vap.2	-	1	176	c.94G>A	c.(94-96)GGG>AGG	p.G32R		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	seven in absentia homolog 3	32					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			ovary(1)|skin(1)	2						ACAAGTTGCCCGGCAGCGGAG	0.498												
PHF11	51131	broad.mit.edu	37	13	50097316	50097316	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:50097316C>T	uc001vdb.2	+	7	913	c.576C>T	c.(574-576)CCC>CCT	p.P192P	PHF11_uc001vdc.2_Silent_p.P153P|PHF11_uc001vdd.2_RNA	NM_001040443	NP_001035533	Q9UIL8	PHF11_HUMAN	PHD finger protein 11 isoform a	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding				0		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		CCTAGCCACCCGAAACAATGA	0.358												
LMO7	4008	broad.mit.edu	37	13	76407186	76407186	+	Splice_Site	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:76407186G>T	uc001vjv.2	+	13	3011	c.2251_splice	c.e13-1	p.D751_splice	LMO7_uc010thv.1_Splice_Site_p.D702_splice|LMO7_uc001vjt.1_Splice_Site_p.D650_splice|LMO7_uc010thw.1_Splice_Site_p.D601_splice|LMO7_uc001vjw.1_Splice_Site_p.D657_splice	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN	LIM domain only 7 isoform 2							cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TTTGTTTTCAGGATCAGTTCA	0.463												
MYCBP2	23077	broad.mit.edu	37	13	77672621	77672621	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:77672621C>A	uc001vkf.2	-	57	8645	c.8554G>T	c.(8554-8556)GAA>TAA	p.E2852*	MYCBP2_uc010aev.2_Nonsense_Mutation_p.E2256*|MYCBP2_uc001vkg.1_Nonsense_Mutation_p.E375*|MYCBP2_uc010aew.2_Nonsense_Mutation_p.E238*	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2852					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTCAAAGGTTCTGTGAGGGGC	0.463												
OXGR1	27199	broad.mit.edu	37	13	97639036	97639036	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:97639036C>T	uc001vmx.1	-	4	1222	c.978G>A	c.(976-978)GAG>GAA	p.E326E	OXGR1_uc010afr.1_Silent_p.E326E	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	326	Cytoplasmic (Potential).					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)|skin(1)	2	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TCTTTGCTTGCTCAAGGTTCC	0.388												
ZIC2	7546	broad.mit.edu	37	13	100634965	100634965	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:100634965C>A	uc001von.2	+	1	647	c.647C>A	c.(646-648)CCC>CAC	p.P216H		NM_007129	NP_009060	O95409	ZIC2_HUMAN	zinc finger protein of the cerebellum 2	216	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGTACGGCCCCATGAATATG	0.557												
TPP2	7174	broad.mit.edu	37	13	103328732	103328732	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:103328732A>C	uc001vpi.3	+	28	3730	c.3627A>C	c.(3625-3627)AAA>AAC	p.K1209N		NM_003291	NP_003282	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1209					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGAAGAAAAACCAACAAAAG	0.294												
ING1	3621	broad.mit.edu	37	13	111371952	111371952	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:111371952C>T	uc001vri.2	+	2	1374	c.942C>T	c.(940-942)GGC>GGT	p.G314G	ING1_uc001vrf.2_Silent_p.G127G|ING1_uc001vrg.2_Silent_p.G102G|ING1_uc001vrh.2_Silent_p.G171G	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1 isoform D	314					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			ovary(1)	1	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ACGACGACGGCGCCTCGGGCA	0.657												
ATP11A	23250	broad.mit.edu	37	13	113508592	113508592	+	Splice_Site	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:113508592G>T	uc001vsi.3	+	19	2080	c.1992_splice	c.e19-1	p.R664_splice	ATP11A_uc001vsj.3_Splice_Site_p.R664_splice|ATP11A_uc001vsm.1_Splice_Site_p.R540_splice|ATP11A_uc010ago.2_Splice_Site	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a						ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GCCTCCCTCAGGCTGCAGGAG	0.532												
ATP4B	496	broad.mit.edu	37	13	114304805	114304805	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:114304805G>A	uc001vtz.2	-	6	672	c.630C>T	c.(628-630)CTC>CTT	p.L210L		NM_000705	NP_000696	P51164	ATP4B_HUMAN	hydrogen/potassium-exchanging ATPase 4B	210	Extracellular (Potential).				ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	GCGGCTGGCCGAGCTCGCGGG	0.612												
RPGRIP1	57096	broad.mit.edu	37	14	21811292	21811292	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:21811292A>G	uc001wag.2	+	21	3437	c.3437A>G	c.(3436-3438)TAC>TGC	p.Y1146C	RPGRIP1_uc001wah.2_Missense_Mutation_p.Y788C|RPGRIP1_uc001wai.2_Missense_Mutation_p.Y472C|RPGRIP1_uc001wak.2_Missense_Mutation_p.Y621C|RPGRIP1_uc010aim.2_Missense_Mutation_p.Y529C|RPGRIP1_uc001wal.2_Missense_Mutation_p.Y505C|RPGRIP1_uc001wam.2_Missense_Mutation_p.Y463C	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator	1146	Interaction with RPGR.				response to stimulus|visual perception	cilium				ovary(4)|breast(2)|pancreas(1)	7	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TATGTGGAGTACAAATTCTAC	0.473												
LRP10	26020	broad.mit.edu	37	14	23342624	23342624	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:23342624C>A	uc001whd.2	+	3	737	c.184C>A	c.(184-186)CTG>ATG	p.L62M	LRP10_uc001whe.2_5'Flank	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein	62	CUB 1.|Extracellular (Potential).				endocytosis	coated pit|integral to membrane				central_nervous_system(1)	1	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CTGGCTCATCCTGGGCAGCAA	0.592												
PRMT5	10419	broad.mit.edu	37	14	23393383	23393383	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:23393383G>A	uc001whm.1	-	12	1300	c.1209C>T	c.(1207-1209)AAC>AAT	p.N403N	PRMT5_uc001whl.1_Silent_p.N386N|PRMT5_uc010akd.1_RNA|PRMT5_uc010tnf.1_Silent_p.N297N|PRMT5_uc010tng.1_Silent_p.N342N|PRMT5_uc010tnh.1_Silent_p.N359N|PRMT5_uc001whn.1_Silent_p.N232N	NM_006109	NP_006100	O14744	ANM5_HUMAN	protein arginine methyltransferase 5 isoform a	403					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			ovary(1)	1	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CAAACTGCCAGTTCTCTAGCC	0.473												
MYH6	4624	broad.mit.edu	37	14	23853688	23853688	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:23853688C>A	uc001wjv.2	-	36	5595	c.5528G>T	c.(5527-5529)AGG>ATG	p.R1843M		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1843	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCGCTCTTCCTCATGCCCTT	0.642												
MYH6	4624	broad.mit.edu	37	14	23862141	23862141	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:23862141C>T	uc001wjv.2	-	24	3298	c.3231G>A	c.(3229-3231)CAG>CAA	p.Q1077Q		NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	1077	Potential.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TTTCTTCCAGCTGCAGTTTAT	0.557												
TM9SF1	10548	broad.mit.edu	37	14	24664130	24664130	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:24664130G>A	uc001wnb.1	-	2	444	c.96C>T	c.(94-96)GGC>GGT	p.G32G	TM9SF1_uc010toa.1_Intron|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Silent_p.G267G|TM9SF1_uc001wnc.2_Silent_p.G32G|TM9SF1_uc001wnd.2_5'Flank	NM_006405	NP_006396	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1 isoform a	32					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				ovary(1)	1				GBM - Glioblastoma multiforme(265;0.0183)		AGTGTGTCACGCCTTCCACCC	0.537												
ADCY4	196883	broad.mit.edu	37	14	24795334	24795334	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:24795334T>C	uc001wov.2	-	12	1612	c.1606A>G	c.(1606-1608)ACC>GCC	p.T536A	ADCY4_uc001wow.2_Missense_Mutation_p.T536A|ADCY4_uc010toh.1_Missense_Mutation_p.T222A|ADCY4_uc001wox.2_Missense_Mutation_p.T536A|ADCY4_uc001woy.2_Missense_Mutation_p.T536A	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	536	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			ovary(1)|lung(1)|pancreas(1)	3				GBM - Glioblastoma multiforme(265;0.0192)		GCATCCCCGGTGTCCAGTTCA	0.597												
NFATC4	4776	broad.mit.edu	37	14	24846034	24846034	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:24846034G>A	uc001wpc.2	+	9	2912	c.2591G>A	c.(2590-2592)AGC>AAC	p.S864N	NFATC4_uc010tok.1_Missense_Mutation_p.S927N|NFATC4_uc010tol.1_Missense_Mutation_p.S927N|NFATC4_uc010alr.2_Intron|NFATC4_uc010tom.1_Missense_Mutation_p.S877N|NFATC4_uc010ton.1_Missense_Mutation_p.S877N|NFATC4_uc010too.1_Intron|NFATC4_uc010alt.2_Missense_Mutation_p.S896N|NFATC4_uc010top.1_Missense_Mutation_p.S896N|NFATC4_uc010toq.1_Intron|NFATC4_uc010tor.1_Intron|NFATC4_uc010tos.1_Missense_Mutation_p.S794N|NFATC4_uc010tot.1_Missense_Mutation_p.S852N|NFATC4_uc010tou.1_Missense_Mutation_p.S794N|NFATC4_uc010tov.1_Intron|NFATC4_uc010tow.1_Intron|NFATC4_uc010alv.2_Missense_Mutation_p.S852N|NFATC4_uc010tox.1_Missense_Mutation_p.S794N|NFATC4_uc001wpd.2_Missense_Mutation_p.S399N|NFATC4_uc010toy.1_Intron|NFATC4_uc010toz.1_Missense_Mutation_p.S399N|NFATC4_uc010tpa.1_Missense_Mutation_p.S152N|NFATC4_uc010tpb.1_Missense_Mutation_p.S152N	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	864					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GGTGGCTACAGCAGCGGCTTC	0.602												
NID2	22795	broad.mit.edu	37	14	52496277	52496277	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:52496277G>A	uc001wzo.2	-	10	2623	c.2389C>T	c.(2389-2391)CGG>TGG	p.R797W	NID2_uc010tqs.1_Missense_Mutation_p.R797W|NID2_uc010tqt.1_Missense_Mutation_p.R797W|NID2_uc001wzp.2_Missense_Mutation_p.R797W	NM_007361	NP_031387	Q14112	NID2_HUMAN	nidogen 2 precursor	797	EGF-like 2.					basement membrane	calcium ion binding|collagen binding			pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7	Breast(41;0.0639)|all_epithelial(31;0.123)					ACACAGTTCCGTCCATCTCCC	0.522												
RHOJ	57381	broad.mit.edu	37	14	63749933	63749933	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:63749933C>T	uc001xgb.1	+	4	940	c.497C>T	c.(496-498)GCG>GTG	p.A166V		NM_020663	NP_065714	Q9H4E5	RHOJ_HUMAN	ras homolog gene family, member J precursor	166					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		CTCGCAAAAGCGGTACAGTCA	0.423												
ACTN1	87	broad.mit.edu	37	14	69341670	69341670	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:69341670G>A	uc001xkl.2	-	21	2895	c.2585C>T	c.(2584-2586)GCG>GTG	p.A862V	ACTN1_uc001xkk.2_Missense_Mutation_p.A458V|ACTN1_uc010ttb.1_Missense_Mutation_p.A792V|ACTN1_uc001xkm.2_Missense_Mutation_p.A884V|ACTN1_uc001xkn.2_Missense_Mutation_p.A857V	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	862					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGCCATCCGCGCGATGCAGTA	0.632												
ACTN1	87	broad.mit.edu	37	14	69358971	69358971	+	Silent	SNP	C	C	T	rs139710798		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:69358971C>T	uc001xkl.2	-	10	1195	c.885G>A	c.(883-885)CCG>CCA	p.P295P	ACTN1_uc010ttb.1_Silent_p.P230P|ACTN1_uc001xkm.2_Silent_p.P295P|ACTN1_uc001xkn.2_Silent_p.P295P|ACTN1_uc001xko.1_Silent_p.P230P|ACTN1_uc010ttd.1_Silent_p.P274P	NM_001102	NP_001093	P12814	ACTN1_HUMAN	actinin, alpha 1 isoform b	295	Spectrin 1.|Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TCTCCAGCCACGGGATTGTGC	0.662												
GALNTL1	57452	broad.mit.edu	37	14	69806298	69806298	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:69806298T>C	uc010aqu.1	+	11	1242	c.1149T>C	c.(1147-1149)TAT>TAC	p.Y383Y	GALNTL1_uc001xla.1_Silent_p.Y383Y|GALNTL1_uc001xlb.1_Silent_p.Y383Y	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide	383	Lumenal (Potential).					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			ovary(1)|central_nervous_system(1)	2				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		AATACTACTATGAGGCCCGGC	0.537												
TTC9	23508	broad.mit.edu	37	14	71109099	71109099	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:71109099C>T	uc001xmi.2	+	1	596	c.253C>T	c.(253-255)CTG>TTG	p.L85L	uc001xmh.1_5'Flank	NM_015351	NP_056166	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	85	TPR 1.						binding				0				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		CCGGGCGTTGCTGGAGCTGAA	0.677												
SIPA1L1	26037	broad.mit.edu	37	14	72128161	72128161	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:72128161G>A	uc001xms.2	+	7	2580	c.2232G>A	c.(2230-2232)CCG>CCA	p.P744P	SIPA1L1_uc001xmt.2_Silent_p.P744P|SIPA1L1_uc001xmu.2_Silent_p.P744P|SIPA1L1_uc001xmv.2_Silent_p.P744P|SIPA1L1_uc010ttm.1_Silent_p.P219P	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	744	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			ovary(3)|breast(1)	4				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TGCACAATCCGTGCTCTGACA	0.507												
HEATR4	399671	broad.mit.edu	37	14	73989730	73989730	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:73989730C>T	uc010tub.1	-	3	449	c.127G>A	c.(127-129)GTC>ATC	p.V43I	HEATR4_uc010tua.1_5'UTR	NM_203309	NP_976054			HEAT repeat containing 4											ovary(1)	1				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		ACACTGGAGACAGAGGCACAC	0.488												
C14orf43	91748	broad.mit.edu	37	14	74196362	74196362	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:74196362A>C	uc001xot.2	-	4	2859	c.2076T>G	c.(2074-2076)CAT>CAG	p.H692Q	C14orf43_uc001xos.2_5'Flank|C14orf43_uc001xou.2_Missense_Mutation_p.H692Q|C14orf43_uc010tud.1_Missense_Mutation_p.H692Q|C14orf43_uc010arw.2_RNA	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	hypothetical protein LOC91748	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GCAGCGTGCGATGGGCACTCT	0.647												
TGFB3	7043	broad.mit.edu	37	14	76427265	76427265	+	Splice_Site	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:76427265C>T	uc001xsc.2	-	6	1936	c.1080_splice	c.e6+1	p.T360_splice		NM_003239	NP_003230	P10600	TGFB3_HUMAN	transforming growth factor, beta 3 precursor						cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0169)		CTGCTCCATACCGTGCTGTGG	0.527												
C14orf174	161394	broad.mit.edu	37	14	77844529	77844529	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:77844529A>G	uc001xtq.1	+	1	768	c.768A>G	c.(766-768)CCA>CCG	p.P256P	TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	hypothetical protein LOC161394	256											0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0278)		GGACAGAGCCACCCGAGCAGG	0.493												
NRXN3	9369	broad.mit.edu	37	14	79181293	79181293	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:79181293C>T	uc001xun.2	+	5	1227	c.736C>T	c.(736-738)CGC>TGC	p.R246C	NRXN3_uc001xum.1_RNA|NRXN3_uc010asv.1_Missense_Mutation_p.R380C	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN	neurexin 3 isoform 1 precursor	619	Extracellular (Potential).|Laminin G-like 3.				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)		CATTGATGGGCGCAGCAAGAA	0.577												
PTPN21	11099	broad.mit.edu	37	14	88945851	88945851	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:88945851C>T	uc001xwv.3	-	13	2255	c.1924G>A	c.(1924-1926)GGG>AGG	p.G642R	PTPN21_uc010twc.1_Missense_Mutation_p.G438R	NM_007039	NP_008970	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type	642						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			ovary(3)|skin(1)	4						TGGCTGAGCCCGGCCACCTCG	0.741												
KCNK13	56659	broad.mit.edu	37	14	90528604	90528604	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:90528604C>T	uc001xye.1	+	1	497	c.55C>T	c.(55-57)CGC>TGC	p.R19C		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	19	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity			skin(1)	1		all_cancers(154;0.186)				GGACAACGCGCGCTTTCTGCT	0.756												
CPSF2	53981	broad.mit.edu	37	14	92601758	92601758	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:92601758A>G	uc001yah.1	+	6	700	c.463A>G	c.(463-465)ATA>GTA	p.I155V		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2	155					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			ovary(2)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TGGTCATATGATAGGTGGAAC	0.383												
DICER1	23405	broad.mit.edu	37	14	95562465	95562465	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:95562465C>T	uc001ydw.2	-	24	4974	c.4792G>A	c.(4792-4794)GAT>AAT	p.D1598N	DICER1_uc010avh.1_Missense_Mutation_p.D496N|DICER1_uc001ydv.2_Missense_Mutation_p.D1588N|DICER1_uc001ydx.2_Missense_Mutation_p.D1598N|DICER1_uc001ydy.1_Missense_Mutation_p.D450N	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN	dicer1	1598					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			skin(2)|ovary(1)|pancreas(1)|lung(1)	5		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTTTCCCGATCAGTCCTTTTA	0.542			Mis F|N			pleuropulmonary blastoma			DICER_1_syndrome_|Familial_Multinodular_Goiter_			
EIF5	1983	broad.mit.edu	37	14	103807325	103807325	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:103807325T>C	uc001ymq.2	+	12	1754	c.1232T>C	c.(1231-1233)GTA>GCA	p.V411A	EIF5_uc001ymr.2_Missense_Mutation_p.V411A|EIF5_uc001yms.2_Missense_Mutation_p.V411A|EIF5_uc001ymt.2_Missense_Mutation_p.V411A|EIF5_uc001ymu.2_Missense_Mutation_p.V411A	NM_001969	NP_001960	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	411					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			pancreas(1)|breast(1)|skin(1)	3		Melanoma(154;0.155)	Epithelial(46;0.182)			GCTGCCAGTGTACCGAAAGTT	0.368												
KIAA0284	283638	broad.mit.edu	37	14	105353595	105353595	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:105353595T>C	uc010axb.2	+	12	3243	c.3019T>C	c.(3019-3021)TCC>CCC	p.S1007P	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Missense_Mutation_p.S937P|KIAA0284_uc001yps.2_Missense_Mutation_p.S913P|KIAA0284_uc001ypt.2_5'Flank	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	1007						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CCGTGAGCAGTCCTCAGAGAG	0.692												
AHNAK2	113146	broad.mit.edu	37	14	105416224	105416224	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:105416224G>A	uc010axc.1	-	7	5684	c.5564C>T	c.(5563-5565)GCC>GTC	p.A1855V	AHNAK2_uc001ypx.2_Missense_Mutation_p.A1755V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1855						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCTCACTTCGGCCTCCACCTT	0.617												
CYFIP1	23191	broad.mit.edu	37	15	22954217	22954217	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:22954217C>T	uc001yus.2	+	14	1471	c.1367C>T	c.(1366-1368)GCC>GTC	p.A456V	CYFIP1_uc001yut.2_Missense_Mutation_p.A456V|CYFIP1_uc010aya.1_Missense_Mutation_p.A484V|CYFIP1_uc001yuu.2_5'Flank	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	456					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CAGGTGATCGCCATGATCAAA	0.642												
MAGEL2	54551	broad.mit.edu	37	15	23890196	23890196	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:23890196G>A	uc001ywj.3	-	1	980	c.885C>T	c.(883-885)AGC>AGT	p.S295S		NM_019066	NP_061939			MAGE-like protein 2												0		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGTGGCCACGGCTGTCCTCTT	0.622												
ATP10A	57194	broad.mit.edu	37	15	25958904	25958904	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:25958904C>A	uc010ayu.2	-	10	2367	c.2261G>T	c.(2260-2262)CGG>CTG	p.R754L		NM_024490	NP_077816	O60312	AT10A_HUMAN	ATPase, class V, type 10A	754	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)		AAGCGGGTGCCGGATCACCAC	0.607												
OCA2	4948	broad.mit.edu	37	15	28202854	28202854	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:28202854C>T	uc001zbh.3	-	16	1774	c.1664G>A	c.(1663-1665)CGC>CAC	p.R555H	OCA2_uc010ayv.2_Missense_Mutation_p.R531H	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	555	Cytoplasmic (Potential).				eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			ovary(3)|breast(1)|pancreas(1)	5		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGCAGTCAGGCGCCAGACGTG	0.632									Oculocutaneous_Albinism			
TRPM1	4308	broad.mit.edu	37	15	31294572	31294572	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:31294572C>T	uc001zfm.2	-	27	4393	c.4265G>A	c.(4264-4266)CGC>CAC	p.R1422H	TRPM1_uc010azy.2_Missense_Mutation_p.R1329H|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1422	Cytoplasmic (Potential).		R -> W.		cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGGGAAATAGCGTGTAATTTT	0.438												
RYR3	6263	broad.mit.edu	37	15	33954456	33954456	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:33954456C>T	uc001zhi.2	+	35	4795	c.4725C>T	c.(4723-4725)CGC>CGT	p.R1575R	RYR3_uc010bar.2_Silent_p.R1575R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1575	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAACAGCCGCGTGGCCTACG	0.597												
RYR3	6263	broad.mit.edu	37	15	33999249	33999249	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:33999249G>A	uc001zhi.2	+	43	6683	c.6613G>A	c.(6613-6615)GTG>ATG	p.V2205M	RYR3_uc010bar.2_Missense_Mutation_p.V2205M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2205	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGCTGTCTTCGTGAACAGTGA	0.483												
RYR3	6263	broad.mit.edu	37	15	34030748	34030748	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:34030748C>T	uc001zhi.2	+	50	7683	c.7613C>T	c.(7612-7614)ACG>ATG	p.T2538M	RYR3_uc010bar.2_Missense_Mutation_p.T2538M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	2538	4 X approximate repeats.|Cytoplasmic (By similarity).				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			ovary(5)|central_nervous_system(4)|lung(1)	10		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGCACCTAACGGAGAAGCTT	0.483											OREG0023032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
THBS1	7057	broad.mit.edu	37	15	39874866	39874866	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:39874866C>T	uc001zkh.2	+	3	719	c.540C>T	c.(538-540)GAC>GAT	p.D180D		NM_003246	NP_003237	P07996	TSP1_HUMAN	thrombospondin 1 precursor	180	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			ovary(3)|central_nervous_system(3)	6		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTGAGTTGGACGTCCCCATCC	0.562												
BAHD1	22893	broad.mit.edu	37	15	40751366	40751366	+	Missense_Mutation	SNP	C	C	T	rs140194867		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:40751366C>T	uc001zlu.2	+	2	774	c.703C>T	c.(703-705)CGC>TGC	p.R235C	BAHD1_uc001zlt.2_Missense_Mutation_p.R235C|BAHD1_uc010bbp.1_Missense_Mutation_p.R235C|BAHD1_uc001zlv.2_Missense_Mutation_p.R235C	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	235					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding				0		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		AGTAGATGGGCGCTCCACTGA	0.627												
DLL4	54567	broad.mit.edu	37	15	41228765	41228765	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:41228765T>C	uc001zng.1	+	9	1900	c.1580T>C	c.(1579-1581)TTC>TCC	p.F527S		NM_019074	NP_061947	Q9NR61	DLL4_HUMAN	delta-like 4 protein precursor	527	Extracellular (Potential).				blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(2)	2		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CCGCCCAGCTTCCCCTGGGTG	0.667												
TGM7	116179	broad.mit.edu	37	15	43579478	43579478	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:43579478C>T	uc001zrf.1	-	6	870	c.865G>A	c.(865-867)GTA>ATA	p.V289I		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	289					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)	2		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TTTCGCTCACCGGTGCACATA	0.373												
MAP1A	4130	broad.mit.edu	37	15	43814151	43814151	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:43814151C>T	uc001zrt.2	+	4	947	c.480C>T	c.(478-480)TGC>TGT	p.C160C		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	160						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGGAGGCCTGCCTCACTCTGC	0.537												
MAP1A	4130	broad.mit.edu	37	15	43818213	43818213	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:43818213G>A	uc001zrt.2	+	4	5009	c.4542G>A	c.(4540-4542)ACG>ACA	p.T1514T		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1514						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CGGAGGACACGGTCGCTGAAA	0.468												
B2M	567	broad.mit.edu	37	15	45003779	45003779	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:45003779T>A	uc001zuc.2	+	1	95	c.35T>A	c.(34-36)CTA>CAA	p.L12Q	B2M_uc010uek.1_Missense_Mutation_p.L12Q|B2M_uc010bdx.1_Missense_Mutation_p.L12Q	NM_004048	NP_004039	P61769	B2MG_HUMAN	beta-2-microglobulin precursor	12					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding			ovary(2)|skin(1)	3		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GTGCTCGCGCTACTCTCTCTT	0.617												
SEMA6D	80031	broad.mit.edu	37	15	48052500	48052500	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:48052500G>A	uc010bek.2	+	3	470	c.110_splice	c.e3-1	p.Y37_splice	SEMA6D_uc001zvw.2_Splice_Site_p.Y37_splice|SEMA6D_uc001zvx.1_Splice_Site_p.Y37_splice|SEMA6D_uc001zvy.2_Splice_Site_p.Y37_splice|SEMA6D_uc001zvz.2_Splice_Site_p.Y37_splice|SEMA6D_uc001zwa.2_Splice_Site_p.Y37_splice|SEMA6D_uc001zwb.2_Splice_Site_p.Y37_splice|SEMA6D_uc001zwc.2_Splice_Site_p.Y37_splice	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	semaphorin 6D isoform 4 precursor						axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			skin(3)|breast(1)	4		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TTTACTTGCAGATTCAAGGCA	0.408												
FBN1	2200	broad.mit.edu	37	15	48730036	48730036	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:48730036T>C	uc001zwx.1	-	51	6570	c.6242A>G	c.(6241-6243)CAG>CGG	p.Q2081R	FBN1_uc010beo.1_RNA	NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	2081	TB 8.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(2)|large_intestine(1)	3		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCAGCATTCCTGCTTGGAGTG	0.493												
DMXL2	23312	broad.mit.edu	37	15	51828804	51828804	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:51828804C>T	uc002abf.2	-	12	2098	c.1873G>A	c.(1873-1875)GCA>ACA	p.A625T	DMXL2_uc010ufy.1_Missense_Mutation_p.A625T|DMXL2_uc010bfa.2_Missense_Mutation_p.A625T	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	625	WD 5.					cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)		AAAGTGACTGCCCACTGATTT	0.408												
UNC13C	440279	broad.mit.edu	37	15	54542453	54542453	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:54542453G>A	uc002ack.2	+	6	3259	c.3259G>A	c.(3259-3261)GCA>ACA	p.A1087T		NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	unc-13 homolog C	1087					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)		GACCTTGCAGGCACTGATCTA	0.458												
HERC1	8925	broad.mit.edu	37	15	63970208	63970208	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:63970208C>T	uc002amp.2	-	37	7054	c.6906G>A	c.(6904-6906)GAG>GAA	p.E2302E		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	2302					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						CGGGCCACACCTCTATGCAAA	0.547												
SNX22	79856	broad.mit.edu	37	15	64446187	64446187	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:64446187G>A	uc002anc.1	+	6	505	c.446G>A	c.(445-447)TGC>TAC	p.C149Y	SNX22_uc002amz.1_Missense_Mutation_p.C121Y|SNX22_uc002ana.1_3'UTR|SNX22_uc002anb.1_RNA	NM_024798	NP_079074	Q96L94	SNX22_HUMAN	sorting nexin 22	149					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding				0						CCCTATGTTTGCAACCCCTCC	0.612											OREG0023180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BBS4	585	broad.mit.edu	37	15	73007688	73007688	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:73007688T>C	uc002avb.2	+	5	320	c.277T>C	c.(277-279)TGT>CGT	p.C93R	BBS4_uc010ukv.1_Missense_Mutation_p.C81R|BBS4_uc002avc.2_5'UTR|BBS4_uc002avd.2_Missense_Mutation_p.C101R	NM_033028	NP_149017	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	93	TPR 1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity				0						CTTCCAGACATGTGCAGTTCT	0.433									Bardet-Biedl_syndrome			
CCDC33	80125	broad.mit.edu	37	15	74623544	74623544	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:74623544G>T	uc002axo.2	+	15	2072	c.1678G>T	c.(1678-1680)GTG>TTG	p.V560L	CCDC33_uc002axp.2_Missense_Mutation_p.V382L|CCDC33_uc002axq.2_Missense_Mutation_p.V153L|CCDC33_uc002axr.2_Missense_Mutation_p.V153L	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	763	Potential.						protein binding			ovary(3)|skin(2)	5						TGCTCTCCAGGTGATCGAGAA	0.652												
LMAN1L	79748	broad.mit.edu	37	15	75105256	75105256	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:75105256C>A	uc002ayt.1	+	1	63	c.61C>A	c.(61-63)CAC>AAC	p.H21N	LMAN1L_uc010bkd.2_Intron|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Missense_Mutation_p.H21N	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like precursor	21						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0						CCTGGACCCCCACAGCCCTGA	0.607												
ODF3L1	161753	broad.mit.edu	37	15	76019508	76019508	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:76019508T>C	uc002bax.1	+	4	674	c.452T>C	c.(451-453)GTG>GCG	p.V151A		NM_175881	NP_787077	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	151											0						CCATACAGAGTGATGGACCTC	0.627												
TSPAN3	10099	broad.mit.edu	37	15	77348191	77348191	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:77348191C>T	uc002bcj.2	-	3	487	c.270G>A	c.(268-270)CTG>CTA	p.L90L	TSPAN3_uc002bck.2_Intron|TSPAN3_uc010ump.1_Silent_p.L26L|TSPAN3_uc010bkx.2_Intron	NM_005724	NP_005715	O60637	TSN3_HUMAN	transmembrane 4 superfamily member 8 isoform 1	90	Helical; (Potential).					integral to membrane					0				all cancers(203;1.14e-19)		AAACCAAGAGCAGGATGATGA	0.294												
MORF4L1	10933	broad.mit.edu	37	15	79189365	79189365	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:79189365G>A	uc002bel.2	+	13	1233	c.1045G>A	c.(1045-1047)GAT>AAT	p.D349N	MORF4L1_uc002bem.2_Missense_Mutation_p.D310N|MORF4L1_uc010une.1_Missense_Mutation_p.D222N	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	MORF-related gene 15 isoform 2	349					double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding				0						CAGTGCCAGCGATTATGAAGT	0.373												
ARNT2	9915	broad.mit.edu	37	15	80866507	80866507	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:80866507G>T	uc002bfr.2	+	13	1501	c.1335G>T	c.(1333-1335)CAG>CAT	p.Q445H	ARNT2_uc010unm.1_Missense_Mutation_p.Q434H|ARNT2_uc002bfs.2_Missense_Mutation_p.Q434H	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	aryl hydrocarbon receptor nuclear translocator	445	Poly-Gln.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(3)|ovary(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.134)			AGCAACAGCAGGCAGAATTGG	0.483												
IL16	3603	broad.mit.edu	37	15	81601118	81601118	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:81601118C>T	uc002bgh.3	+	19	4354	c.3978C>T	c.(3976-3978)ACC>ACT	p.T1326T	IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.T1367T|IL16_uc002bgg.2_Silent_p.T1325T|IL16_uc002bgj.2_Silent_p.T819T|IL16_uc002bgk.2_Silent_p.T625T	NM_172217	NP_757366	Q14005	IL16_HUMAN	interleukin 16 isoform 2	1326					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			ovary(2)|lung(1)|skin(1)	4						CCAAGGAAACCACAGCTGCTG	0.527												
ZSCAN2	54993	broad.mit.edu	37	15	85147384	85147384	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:85147384G>A	uc002bkr.2	+	2	452	c.226G>A	c.(226-228)GCA>ACA	p.A76T	ZSCAN2_uc002bkp.2_Missense_Mutation_p.A76T|ZSCAN2_uc002bkq.2_Missense_Mutation_p.A76T|ZSCAN2_uc010bmz.1_Missense_Mutation_p.A75T|ZSCAN2_uc010bna.2_Intron|ZSCAN2_uc010uox.1_Missense_Mutation_p.A75T|ZSCAN2_uc010uoy.1_Missense_Mutation_p.A75T|ZSCAN2_uc010uoz.1_Missense_Mutation_p.A75T	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	76	SCAN box.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACCACAGGGTGCACTCGGCCG	0.627												
MPG	4350	broad.mit.edu	37	16	135514	135514	+	Missense_Mutation	SNP	G	G	A	rs142373562		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:135514G>A	uc002cfn.2	+	5	953	c.635G>A	c.(634-636)CGC>CAC	p.R212H	MPG_uc002cfm.2_Missense_Mutation_p.R195H|MPG_uc002cfo.2_Missense_Mutation_p.R207H|NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.1_Intron	NM_002434	NP_002425	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase isoform a	212					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			ovary(1)|skin(1)	2		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CTCAAGGACCGCGAGCTCTGC	0.632								BER_DNA_glycosylases				
CASKIN1	57524	broad.mit.edu	37	16	2237063	2237063	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:2237063C>T	uc010bsg.1	-	9	878	c.846G>A	c.(844-846)GCG>GCA	p.A282A		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	282	SH3.				signal transduction	cytoplasm				skin(2)	2						CCTGCAGGGCCGCTGAGGCCT	0.657												
ABCA3	21	broad.mit.edu	37	16	2329104	2329104	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:2329104G>A	uc002cpy.1	-	29	5099	c.4387C>T	c.(4387-4389)CAG>TAG	p.Q1463*	ABCA3_uc010bsk.1_Nonsense_Mutation_p.Q1405*	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A member 3	1463	ABC transporter 2.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16		Ovarian(90;0.17)				GCATCAAACTGCGGGCAGTAG	0.677												
SRRM2	23524	broad.mit.edu	37	16	2815886	2815886	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:2815886G>A	uc002crk.2	+	11	5906	c.5357G>A	c.(5356-5358)CGA>CAA	p.R1786Q	SRRM2_uc002crj.1_Missense_Mutation_p.R1690Q|SRRM2_uc002crl.1_Missense_Mutation_p.R1786Q|SRRM2_uc010bsu.1_Missense_Mutation_p.R1690Q	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	splicing coactivator subunit SRm300	1786	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						AGAACAACCCGACGTCGAGAT	0.597												
ZNF434	54925	broad.mit.edu	37	16	3434841	3434841	+	Silent	SNP	G	G	A	rs34249904		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:3434841G>A	uc002cuz.2	-	5	1018	c.216C>T	c.(214-216)AGC>AGT	p.S72S	ZNF434_uc002cux.3_Silent_p.S283S|ZNF434_uc010uwx.1_5'UTR|ZNF434_uc002cuy.3_5'UTR|ZNF434_uc010uwy.1_5'UTR|ZNF434_uc010uwz.1_Silent_p.S283S|ZNF434_uc010uxa.1_Silent_p.S72S	NM_017810	NP_060280	Q9NX65	ZN434_HUMAN	zinc finger protein 434	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						TGTAGATCTGGCTGTTCTGCT	0.517												
ADCY9	115	broad.mit.edu	37	16	4016604	4016604	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:4016604G>A	uc002cvx.2	-	11	3773	c.3234C>T	c.(3232-3234)GGC>GGT	p.G1078G		NM_001116	NP_001107	O60503	ADCY9_HUMAN	adenylate cyclase 9	1078	Guanylate cyclase 2.|Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6						AGCACTCCTTGCCGCCCTCGT	0.567												
ROGDI	79641	broad.mit.edu	37	16	4848176	4848176	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:4848176C>T	uc002cxv.2	-	8	643	c.541G>A	c.(541-543)GCC>ACC	p.A181T	ROGDI_uc002cxu.2_Missense_Mutation_p.A91T|ROGDI_uc010bua.2_RNA|ROGDI_uc002cxw.2_Missense_Mutation_p.A91T	NM_024589	NP_078865	Q9GZN7	ROGDI_HUMAN	leucine zipper domain protein	181						intracellular				ovary(1)|skin(1)	2						AGGGCAGGGGCGAACATCCGC	0.652												
USP7	7874	broad.mit.edu	37	16	8987861	8987861	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:8987861A>G	uc002czl.2	-	31	3502	c.3303T>C	c.(3301-3303)CAT>CAC	p.H1101H	USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.H1002H|USP7_uc002czk.2_Silent_p.H1085H	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	1101					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(3)	3						GAAATCAGTTATGGATTTTAA	0.512												
CIITA	4261	broad.mit.edu	37	16	11012339	11012339	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:11012339C>T	uc002dai.3	+	16	3238	c.3105C>T	c.(3103-3105)CTC>CTT	p.L1035L	CIITA_uc002daj.3_Silent_p.L1036L|CIITA_uc002dak.3_Silent_p.L451L	NM_000246	NP_000237	P33076	C2TA_HUMAN	class II transactivator	1035	LRR 2.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)	1						CCTACAAACTCGCCGAGGCCC	0.632			T	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75	PMBL|Hodgkin Lymphona|						OREG0023606	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TMC5	79838	broad.mit.edu	37	16	19451656	19451656	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:19451656C>A	uc002dgc.3	+	3	1045	c.296C>A	c.(295-297)CCA>CAA	p.P99Q	TMC5_uc010vaq.1_Missense_Mutation_p.P99Q|TMC5_uc002dgb.3_Missense_Mutation_p.P99Q|TMC5_uc010var.1_Missense_Mutation_p.P99Q	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	99	Extracellular (Potential).					integral to membrane				skin(1)	1						AGAACAAGCCCAGACCATCCT	0.483												
CDR2	1039	broad.mit.edu	37	16	22359005	22359005	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:22359005G>A	uc002dkn.2	-	5	954	c.646C>T	c.(646-648)CGG>TGG	p.R216W		NM_001802	NP_001793	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2	216	Potential.					nucleus	protein binding			skin(1)	1				GBM - Glioblastoma multiforme(48;0.0188)		ATAGTCACCCGCTTCTGCCGC	0.557												
ERN2	10595	broad.mit.edu	37	16	23703645	23703645	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:23703645G>A	uc002dma.3	-	18	2421	c.2252C>T	c.(2251-2253)GCT>GTT	p.A751V	ERN2_uc010bxp.2_Missense_Mutation_p.A699V	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	703	Protein kinase.|Cytoplasmic (Potential).				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GATGTCCACAGCGCTGGTCTG	0.547												
GTF3C1	2975	broad.mit.edu	37	16	27499732	27499732	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:27499732G>A	uc002dov.1	-	23	3556	c.3516C>T	c.(3514-3516)AAC>AAT	p.N1172N	GTF3C1_uc002dou.2_Silent_p.N1172N	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide	1172						transcription factor TFIIIC complex	DNA binding|protein binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5						TCAACCTGCTGTTGCCTAGAC	0.537												
PRRT2	112476	broad.mit.edu	37	16	29824719	29824719	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:29824719G>A	uc002due.3	+	2	645	c.344G>A	c.(343-345)AGC>AAC	p.S115N	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Missense_Mutation_p.S115N|PRRT2_uc002duf.1_Missense_Mutation_p.S115N|C16orf53_uc002dug.3_5'Flank	NM_145239	NP_660282	Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	115	Extracellular (Potential).				response to biotic stimulus	integral to membrane					0						CCAGAAGTGAGCAAAGAGGCC	0.622												
ZNF689	115509	broad.mit.edu	37	16	30616285	30616285	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:30616285C>T	uc002dyx.2	-	3	1123	c.803G>A	c.(802-804)CGT>CAT	p.R268H	ZNF689_uc010bzy.2_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	zinc finger protein HIT-39	268	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			Colorectal(24;0.198)			GGCGAAGCGACGTCCACAGCT	0.637												
SRCAP	10847	broad.mit.edu	37	16	30735944	30735944	+	Silent	SNP	T	T	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:30735944T>G	uc002dze.1	+	25	5584	c.5199T>G	c.(5197-5199)TCT>TCG	p.S1733S	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.S1528S|SRCAP_uc010bzz.1_Silent_p.S1303S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1733	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)			AGACACTGTCTTTGGCACCAG	0.532												
PHKG2	5261	broad.mit.edu	37	16	30762564	30762564	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:30762564C>G	uc002dzk.1	+	3	326	c.233C>G	c.(232-234)ACA>AGA	p.T78R	PHKG2_uc002dzi.1_Missense_Mutation_p.T78R|PHKG2_uc002dzj.1_5'UTR|PHKG2_uc002dzl.1_Missense_Mutation_p.T78R	NM_000294	NP_000285	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	78	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			ovary(1)	1			Colorectal(24;0.198)			CGGCGAGAGACACACATCCTT	0.627												
ITGAX	3687	broad.mit.edu	37	16	31374534	31374534	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:31374534C>T	uc002ebu.1	+	14	1616	c.1549C>T	c.(1549-1551)CCC>TCC	p.P517S	ITGAX_uc002ebt.2_Missense_Mutation_p.P517S|ITGAX_uc010vfk.1_Missense_Mutation_p.P167S	NM_000887	NP_000878	P20702	ITAX_HUMAN	integrin alpha X precursor	517	Extracellular (Potential).|FG-GAP 6.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4						GCAGGGCCACCCCTGGGGTCG	0.632												
SLC5A2	6524	broad.mit.edu	37	16	31497187	31497187	+	Silent	SNP	T	T	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:31497187T>G	uc002ecf.3	+	4	460	c.441T>G	c.(439-441)CTT>CTG	p.L147L	SLC5A2_uc010car.2_RNA	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	147	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1						TGCTCTCCCTTTTCCTGTACA	0.597												
ZNF423	23090	broad.mit.edu	37	16	49670025	49670025	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:49670025A>G	uc002efs.2	-	5	3336	c.3038T>C	c.(3037-3039)CTG>CCG	p.L1013P	ZNF423_uc010vgn.1_Missense_Mutation_p.L896P	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1013					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(1)|lung(1)|kidney(1)|pancreas(1)	4		all_cancers(37;0.0155)				TGAGTTGCGCAGGTCAGGGTG	0.582												
SALL1	6299	broad.mit.edu	37	16	51171374	51171374	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:51171374G>A	uc010vgs.1	-	3	3655	c.3624C>T	c.(3622-3624)GGC>GGT	p.G1208G	SALL1_uc010vgr.1_Silent_p.G1111G|SALL1_uc010cbv.2_Silent_p.G60G	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	1208					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(5)|ovary(3)	8		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGACGGGATTGCCTCCTAGAA	0.547												
RPGRIP1L	23322	broad.mit.edu	37	16	53730177	53730177	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:53730177C>T	uc002ehp.2	-	3	180	c.116G>A	c.(115-117)CGC>CAC	p.R39H	RPGRIP1L_uc002eho.3_Missense_Mutation_p.R39H|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.R39H|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.R39H|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.R39H|RPGRIP1L_uc002ehq.1_Missense_Mutation_p.R39H|RPGRIP1L_uc010cby.1_Missense_Mutation_p.R39H	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	RPGRIP1-like isoform a	39					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			ovary(1)	1		all_cancers(37;0.0973)				CACTGCCTGGCGAGACTTCAT	0.398												
CAPNS2	84290	broad.mit.edu	37	16	55601280	55601280	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:55601280G>A	uc002eid.1	+	1	697	c.612G>A	c.(610-612)ATG>ATA	p.M204I	LPCAT2_uc002eie.3_Intron|LPCAT2_uc002eic.2_Intron	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN	calpain small subunit 2	204	EF-hand 3.					cytoplasm|plasma membrane	calcium ion binding				0						ATGGAGATATGGATTTTAACA	0.478												
CNGB1	1258	broad.mit.edu	37	16	57918087	57918087	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:57918087C>A	uc002emt.2	-	33	3802	c.3737G>T	c.(3736-3738)AGG>ATG	p.R1246M	CNGB1_uc010cdh.2_Missense_Mutation_p.R1240M	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1 isoform	1246	Cytoplasmic (Potential).				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(3)|pancreas(1)	4						CTTCTCCTCCCTTTCCTCCGG	0.711												
PRSS54	221191	broad.mit.edu	37	16	58324917	58324917	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:58324917C>T	uc002enf.2	-	4	604	c.209G>A	c.(208-210)GGC>GAC	p.G70D	PRSS54_uc002eng.2_Missense_Mutation_p.G70D|PRSS54_uc010vie.1_Intron	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	70	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						CAGGATGCAGCCGAAAGCCAG	0.627												
CA7	766	broad.mit.edu	37	16	66886682	66886682	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:66886682C>T	uc002eqi.2	+	6	693	c.584C>T	c.(583-585)ACC>ATC	p.T195I	uc002eqh.2_Intron|CA7_uc002eqj.2_Missense_Mutation_p.T139I	NM_005182	NP_005173	P43166	CAH7_HUMAN	carbonic anhydrase VII isoform 1	195					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CACTACTGGACCTACCCGGGC	0.602												
EXOC3L	283849	broad.mit.edu	37	16	67221487	67221487	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:67221487C>T	uc002erx.1	-	5	922	c.681G>A	c.(679-681)GCG>GCA	p.A227A	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Silent_p.A171A|EXOC3L_uc010vje.1_Silent_p.A166A	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	227	Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity).				exocytosis|peptide hormone secretion	exocyst|stored secretory granule|transport vesicle					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616)		TCTCCACCTCCGCCACACGCA	0.692												
TMEM208	29100	broad.mit.edu	37	16	67262461	67262461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:67262461C>T	uc002esi.2	+	4	332	c.226C>T	c.(226-228)CGA>TGA	p.R76*	LRRC29_uc002ese.2_5'Flank|LRRC29_uc002esf.2_5'Flank|LRRC29_uc002esg.2_5'Flank|LRRC29_uc010vjg.1_5'Flank|TMEM208_uc002esj.2_RNA	NM_014187	NP_054906	Q9BTX3	TM208_HUMAN	HSPC171 protein	76						integral to membrane					0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CTCGATGGCACGAGCAGCGTT	0.602												
SLC7A6	9057	broad.mit.edu	37	16	68330529	68330529	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:68330529G>A	uc002evt.1	+	11	1579	c.1270_splice	c.e11-1	p.L424_splice	SLC7A6_uc002evu.1_Splice_Site_p.L424_splice|SLC7A6_uc002evv.1_Splice_Site|SLC7A6_uc010cfc.1_Splice_Site	NM_001076785	NP_001070253	Q92536	YLAT2_HUMAN	solute carrier family 7 (cationic amino acid						blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			central_nervous_system(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CTCTATTTCAGCTGAGCGTGT	0.527												
NFAT5	10725	broad.mit.edu	37	16	69660331	69660331	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:69660331G>T	uc002exm.1	+	2	1307	c.99G>T	c.(97-99)AAG>AAT	p.K33N	NFAT5_uc002exh.1_Translation_Start_Site|NFAT5_uc002exi.2_Translation_Start_Site|NFAT5_uc002exj.1_Translation_Start_Site|NFAT5_uc002exk.1_Translation_Start_Site|NFAT5_uc002exl.1_Missense_Mutation_p.K51N|NFAT5_uc002exn.1_Missense_Mutation_p.K51N	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	33					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						TTCTCCCAAAGGAGTTACAGT	0.443												
NFAT5	10725	broad.mit.edu	37	16	69727103	69727103	+	Silent	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:69727103C>A	uc002exm.1	+	12	4529	c.3321C>A	c.(3319-3321)ACC>ACA	p.T1107T	NFAT5_uc002exi.2_Silent_p.T1031T|NFAT5_uc002exj.1_Silent_p.T1031T|NFAT5_uc002exk.1_Silent_p.T1031T|NFAT5_uc002exl.1_Silent_p.T1125T|NFAT5_uc002exn.1_Silent_p.T1124T|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1107					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						CTTCTACAACCTCCTCTGAAC	0.443												
NFAT5	10725	broad.mit.edu	37	16	69727684	69727684	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:69727684A>G	uc002exm.1	+	12	5110	c.3902A>G	c.(3901-3903)CAG>CGG	p.Q1301R	NFAT5_uc002exi.2_Missense_Mutation_p.Q1225R|NFAT5_uc002exj.1_Missense_Mutation_p.Q1225R|NFAT5_uc002exk.1_Missense_Mutation_p.Q1225R|NFAT5_uc002exl.1_Missense_Mutation_p.Q1319R|NFAT5_uc002exn.1_Missense_Mutation_p.Q1318R|NFAT5_uc002exo.1_RNA	NM_006599	NP_006590	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5 isoform c	1301					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0						ATGGCTAATCAGGAGCAACAG	0.413												
AARS	16	broad.mit.edu	37	16	70305734	70305734	+	Silent	SNP	G	G	A	rs147424208	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:70305734G>A	uc002eyn.1	-	5	731	c.621C>T	c.(619-621)GAC>GAT	p.D207D	AARS_uc010vlu.1_Silent_p.D37D	NM_001605	NP_001596	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	207					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			pancreas(1)	1		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CATTAGGGTCGTCCTGGTTGA	0.557												
ZFHX3	463	broad.mit.edu	37	16	72822269	72822269	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:72822269C>T	uc002fck.2	-	10	10579	c.9906G>A	c.(9904-9906)TTG>TTA	p.L3302L	ZFHX3_uc002fcl.2_Silent_p.L2388L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	3302					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)				GGCTTGTGAGCAATGCTGTGG	0.597												
ZFHX3	463	broad.mit.edu	37	16	72992505	72992505	+	Missense_Mutation	SNP	C	C	T	rs150708008		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:72992505C>T	uc002fck.2	-	2	2213	c.1540G>A	c.(1540-1542)GCA>ACA	p.A514T	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	514					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)				CTACCTGCTGCGGCCCCAGGC	0.473												
BCAR1	9564	broad.mit.edu	37	16	75263732	75263732	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:75263732C>T	uc002fdv.2	-	7	2413	c.2290G>A	c.(2290-2292)GCC>ACC	p.A764T	BCAR1_uc002fdt.2_Missense_Mutation_p.A217T|BCAR1_uc002fdu.2_Missense_Mutation_p.A554T|BCAR1_uc010cgu.2_Missense_Mutation_p.A753T|BCAR1_uc010vna.1_Missense_Mutation_p.A762T|BCAR1_uc010vnb.1_Missense_Mutation_p.A810T|BCAR1_uc002fdw.2_Missense_Mutation_p.A764T|BCAR1_uc010vnc.1_Missense_Mutation_p.A616T|BCAR1_uc010vnd.1_Missense_Mutation_p.A782T|BCAR1_uc002fdx.2_Missense_Mutation_p.A782T	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	764	Divergent helix-loop-helix motif.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			central_nervous_system(5)|breast(2)|prostate(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTAAAGAAGGCGTCCACGGCG	0.642												
ADAMTS18	170692	broad.mit.edu	37	16	77465453	77465453	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:77465453G>A	uc002ffc.3	-	3	653	c.234C>T	c.(232-234)CAC>CAT	p.H78H	ADAMTS18_uc002ffe.1_Translation_Start_Site|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	78					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						GCAAAATGTCGTGTGAAATAT	0.488												
CMIP	80790	broad.mit.edu	37	16	81730231	81730231	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:81730231G>T	uc002fgp.2	+	14	1669	c.1597G>T	c.(1597-1599)GGG>TGG	p.G533W	CMIP_uc002fgq.1_Missense_Mutation_p.G439W|CMIP_uc010vnq.1_Missense_Mutation_p.G346W|CMIP_uc002fgr.1_Missense_Mutation_p.G380W|CMIP_uc010vnr.1_Missense_Mutation_p.G99W	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	499						cytoplasm|nucleus					0						CAGCCCCGGAGGGGTGGCCTG	0.647												
HSD17B2	3294	broad.mit.edu	37	16	82104706	82104706	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:82104706G>T	uc002fgv.2	+	3	810	c.638G>T	c.(637-639)AGG>ATG	p.R213M		NM_002153	NP_002144	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	213					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			ovary(1)|central_nervous_system(1)	2					NADH(DB00157)	TCCAAAGGGAGGCTGGTGAAT	0.478												
ZDHHC7	55625	broad.mit.edu	37	16	85009967	85009967	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:85009967G>A	uc002fiq.2	-	8	1262	c.909C>T	c.(907-909)GGC>GGT	p.G303G	ZDHHC7_uc010voi.1_Silent_p.G340G|ZDHHC7_uc002fir.1_RNA	NM_017740	NP_060210	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7 isoform 2	303						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(1)	1						AGAACTCCGGGCCACCTTTTC	0.532												
ZCCHC14	23174	broad.mit.edu	37	16	87493704	87493704	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:87493704C>T	uc002fjz.1	-	2	220	c.193G>A	c.(193-195)GTC>ATC	p.V65I	ZCCHC14_uc002fka.1_RNA	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	65					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			upper_aerodigestive_tract(1)|breast(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CTATTACTGACACTGCTGACA	0.478												
ZNF778	197320	broad.mit.edu	37	16	89293323	89293323	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:89293323T>C	uc002fmv.2	+	6	882	c.543T>C	c.(541-543)TCT>TCC	p.S181S	ZNF778_uc010vpf.1_Intron|ZNF778_uc002fmw.1_Silent_p.S139S|ZNF778_uc010vpg.1_5'UTR	NM_182531	NP_872337	Q96MU6	ZN778_HUMAN	zinc finger protein 778	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0269)		CCTTCAGCTCTACTCCAAATG	0.448												
SCARF1	8578	broad.mit.edu	37	17	1538704	1538704	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:1538704C>T	uc002fsz.1	-	11	1891	c.1841G>A	c.(1840-1842)CGA>CAA	p.R614Q	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R528Q	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	614	Pro/Ser-rich.|Cytoplasmic (Potential).				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTTGGGCTTTCGGAGCGGGCT	0.662												
RTN4RL1	146760	broad.mit.edu	37	17	1841018	1841018	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:1841018G>A	uc002ftp.2	-	2	117	c.98C>T	c.(97-99)CCG>CTG	p.P33L		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1 precursor	33	LRRNT.				axon regeneration	anchored to plasma membrane	receptor activity				0						CATGGGCGCCGGGTAGCACAC	0.657												
SMG6	23293	broad.mit.edu	37	17	2186096	2186096	+	Missense_Mutation	SNP	G	G	A	rs149940409		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:2186096G>A	uc002fub.1	-	8	2561	c.2506C>T	c.(2506-2508)CGG>TGG	p.R836W		NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	836					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			central_nervous_system(2)|lung(1)|kidney(1)	4						TTTCCTTTCCGCCACTGGTCA	0.448												
OR1E2	8388	broad.mit.edu	37	17	3336588	3336588	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:3336588A>G	uc010vre.1	-	1	548	c.548T>C	c.(547-549)ATC>ACC	p.I183T		NM_003554	NP_003545	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E,	183	Extracellular (Potential).				sensory perception of smell	integral to plasma membrane	olfactory receptor activity			large_intestine(1)	1						AAAGTGGGGGATCACATTGTC	0.493												
ANKFY1	51479	broad.mit.edu	37	17	4145690	4145690	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:4145690T>C	uc002fxq.1	-	2	102	c.64A>G	c.(64-66)AAG>GAG	p.K22E	ANKFY1_uc002fxn.2_Missense_Mutation_p.K64E|ANKFY1_uc002fxo.2_Missense_Mutation_p.K22E|ANKFY1_uc002fxp.2_Missense_Mutation_p.K22E|ANKFY1_uc010ckp.2_Silent_p.S2S|ANKFY1_uc002fxr.2_Missense_Mutation_p.K22E|ANKFY1_uc010vrz.1_Missense_Mutation_p.K22E	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	22						endosome membrane	metal ion binding|protein binding			ovary(2)|skin(1)	3						TTCTGCAGCTTGACATACTCC	0.557												
ALOX15	246	broad.mit.edu	37	17	4539052	4539052	+	Splice_Site	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:4539052A>G	uc002fyh.2	-	8	1175	c.1161_splice	c.e8+1	p.K387_splice	ALOX15_uc010vsd.1_Splice_Site_p.K348_splice|ALOX15_uc010vse.1_Splice_Site_p.K409_splice	NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase						inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			skin(3)|ovary(1)|lung(1)	5				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	ATAAGGAGTTACCTTGAAGAT	0.562												
PSMB6	5694	broad.mit.edu	37	17	4700797	4700797	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:4700797C>T	uc002fzb.2	+	3	268	c.235C>T	c.(235-237)CGC>TGC	p.R79C		NM_002798	NP_002789	P28072	PSB6_HUMAN	proteasome beta 6 subunit precursor	79					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			ovary(2)	2						TTTCTGCTGTCGCTCAGGCTC	0.557												
CAMTA2	23125	broad.mit.edu	37	17	4883429	4883429	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:4883429T>C	uc002gah.1	-	9	1296	c.1188A>G	c.(1186-1188)GTA>GTG	p.V396V	CAMTA2_uc010cku.1_Silent_p.V419V|CAMTA2_uc002gag.1_Silent_p.V395V|CAMTA2_uc002gai.1_Silent_p.V398V|CAMTA2_uc010ckv.1_Silent_p.V43V|CAMTA2_uc010vsu.1_Silent_p.V209V	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	396					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			ovary(1)	1						AGTCTGGGCTTACTCCCTGCC	0.657												
PITPNM3	83394	broad.mit.edu	37	17	6376136	6376136	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:6376136G>A	uc002gdd.3	-	11	1421	c.1270C>T	c.(1270-1272)CGT>TGT	p.R424C	PITPNM3_uc010cln.2_Missense_Mutation_p.R388C|PITPNM3_uc010clm.2_5'UTR|PITPNM3_uc002gdc.3_Missense_Mutation_p.R15C	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	424	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			ovary(2)|central_nervous_system(2)	4				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CAGGCAGGACGCACCTGGAAG	0.632											OREG0024122	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC13A5	284111	broad.mit.edu	37	17	6606371	6606371	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:6606371T>C	uc002gdj.2	-	5	722	c.634A>G	c.(634-636)ATC>GTC	p.I212V	SLC13A5_uc010vtf.1_Missense_Mutation_p.I212V|SLC13A5_uc010clq.2_Missense_Mutation_p.I169V|SLC13A5_uc002gdk.2_Missense_Mutation_p.I195V|SLC13A5_uc002gdl.1_Missense_Mutation_p.I194V	NM_177550	NP_808218	Q86YT5	S13A5_HUMAN	solute carrier family 13, member 5 isoform a	212						integral to membrane	citrate transmembrane transporter activity				0						GCGTAGCAGATGCACAGGGTC	0.622												
ACAP1	9744	broad.mit.edu	37	17	7250431	7250431	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:7250431G>A	uc002ggd.2	+	14	1419	c.1213G>A	c.(1213-1215)GGG>AGG	p.G405R		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	centaurin beta1	405	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			breast(2)|large_intestine(1)	3						TGGGGGAGTCGGGCACGTGGT	0.677												
PFAS	5198	broad.mit.edu	37	17	8170707	8170707	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:8170707G>C	uc002gkr.2	+	25	3334	c.3193G>C	c.(3193-3195)GTC>CTC	p.V1065L	PFAS_uc010vuv.1_Missense_Mutation_p.V641L|PFAS_uc002gks.2_Missense_Mutation_p.V144L	NM_012393	NP_036525	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1065	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			ovary(2)|central_nervous_system(2)|pancreas(1)	5					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGCCCCCGAGTCGCCATCTT	0.617												
ARHGEF15	22899	broad.mit.edu	37	17	8224225	8224225	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:8224225G>A	uc002glc.2	+	16	2561	c.2440G>A	c.(2440-2442)GAA>AAA	p.E814K	ARHGEF15_uc002gld.2_Missense_Mutation_p.E814K|ARHGEF15_uc010vuw.1_Missense_Mutation_p.E703K	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Rho guanine exchange factor 15	814					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						AGGGGAACACGAAAGGAGGAG	0.612												
NTN1	9423	broad.mit.edu	37	17	9066226	9066226	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:9066226G>A	uc002glw.3	+	3	1222	c.1115G>A	c.(1114-1116)CGC>CAC	p.R372H		NM_004822	NP_004813	O95631	NET1_HUMAN	netrin 1 precursor	372	Laminin EGF-like 2.				apoptosis|axon guidance		protein binding				0						CTCAACTGTCGCCACAACACC	0.627												
DNAH9	1770	broad.mit.edu	37	17	11556249	11556249	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:11556249G>A	uc002gne.2	+	14	2593	c.2525G>A	c.(2524-2526)CGG>CAG	p.R842Q	DNAH9_uc010coo.2_Missense_Mutation_p.R136Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	842	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGGATGATCGGCATGATCGA	0.418												
RAI1	10743	broad.mit.edu	37	17	17696894	17696894	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:17696894A>G	uc002grm.2	+	3	1101	c.632A>G	c.(631-633)CAG>CGG	p.Q211R	RAI1_uc002grn.1_Missense_Mutation_p.Q211R	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	211	Gln-rich.					cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)		CACTTTCCTCAGCATTCCCAG	0.632												
TOP3A	7156	broad.mit.edu	37	17	18188830	18188830	+	Silent	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:18188830C>A	uc002gsx.1	-	14	1831	c.1602G>T	c.(1600-1602)ACG>ACT	p.T534T	TOP3A_uc010cpz.1_5'UTR|TOP3A_uc010vxr.1_Silent_p.T64T|TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Silent_p.T432T	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	534					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			skin(3)	3						GAGTGGCATCCGTACCTGGAA	0.607												
MAPK7	5598	broad.mit.edu	37	17	19284070	19284070	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:19284070T>C	uc002gvn.2	+	4	934	c.548T>C	c.(547-549)CTG>CCG	p.L183P	B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Missense_Mutation_p.L44P|MAPK7_uc002gvq.2_Missense_Mutation_p.L183P|MAPK7_uc002gvp.2_Missense_Mutation_p.L183P	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	183	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CACCGTGACCTGAAGCCCTCC	0.562												
SLC47A2	146802	broad.mit.edu	37	17	19582127	19582127	+	Missense_Mutation	SNP	C	C	T	rs113234335		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:19582127C>T	uc002gwe.3	-	17	1856	c.1681G>A	c.(1681-1683)GCC>ACC	p.A561T	SLC47A2_uc002gwg.3_Missense_Mutation_p.A525T|SLC47A2_uc002gwf.3_Missense_Mutation_p.A539T|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	solute carrier family 47, member 2 isoform 1	561	Cytoplasmic (Potential).					integral to membrane|plasma membrane	drug:hydrogen antiporter activity				0	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GCTGAAAGGGCGTGGGCCTCC	0.597												
TMEM11	8834	broad.mit.edu	37	17	21101950	21101950	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:21101950C>T	uc002gyp.2	-	2	709	c.266G>A	c.(265-267)GGC>GAC	p.G89D	TMEM11_uc002gyq.2_3'UTR	NM_003876	NP_003867	P17152	TMM11_HUMAN	transmembrane protein 11	89	Helical; (Potential).				mitochondrion organization	integral to mitochondrial inner membrane|integral to plasma membrane	protein binding				0						GCAGGCGGTGCCCGCCAGCAC	0.612												
KCNJ12	3768	broad.mit.edu	37	17	21319207	21319207	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:21319207G>A	uc002gyv.1	+	3	1258	c.553G>A	c.(553-555)GCA>ACA	p.A185T		NM_021012	NP_066292	Q14500	IRK12_HUMAN	potassium inwardly-rectifying channel, subfamily	185	Cytoplasmic (By similarity).			A -> V (in Ref. 2; AAC50615).	blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			ovary(3)|skin(1)	4				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)	GGCCAAGATGGCAAGGCCCAA	0.622										Prostate(3;0.18)		
CCL1	6346	broad.mit.edu	37	17	32688803	32688803	+	Splice_Site	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:32688803C>T	uc002hid.1	-	2	260	c.188_splice	c.e2+1	p.I63_splice		NM_002981	NP_002972	P22362	CCL1_HUMAN	small inducible cytokine A1 precursor						cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity				0		Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		TGATCACTTACATTAAGCCCT	0.463											OREG0024322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GPR179	440435	broad.mit.edu	37	17	36499065	36499065	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:36499065G>A	uc002hpz.2	-	1	629	c.608C>T	c.(607-609)ACC>ATC	p.T203I		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	203	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TAGGTCATTGGTCAACACTCG	0.617												
IKZF3	22806	broad.mit.edu	37	17	37922216	37922216	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:37922216G>A	uc002hsu.2	-	8	1419	c.1357C>T	c.(1357-1359)CGG>TGG	p.R453W	IKZF3_uc002htd.2_Missense_Mutation_p.R419W|IKZF3_uc010cwd.2_Missense_Mutation_p.R310W|IKZF3_uc002hsv.2_Missense_Mutation_p.R380W|IKZF3_uc010cwe.2_Missense_Mutation_p.R319W|IKZF3_uc010cwf.2_Missense_Mutation_p.R271W|IKZF3_uc010cwg.2_Missense_Mutation_p.R232W|IKZF3_uc002hsw.2_Missense_Mutation_p.R414W|IKZF3_uc002hsx.2_Missense_Mutation_p.R397W|IKZF3_uc002hsy.2_Missense_Mutation_p.R414W|IKZF3_uc002hsz.2_Missense_Mutation_p.R358W|IKZF3_uc002hta.2_Missense_Mutation_p.R375W|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.R366W|IKZF3_uc002htc.2_Missense_Mutation_p.R206W|IKZF3_uc010wel.1_Missense_Mutation_p.R206W	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	aiolos isoform 1	453	C2H2-type 5.				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(2)|kidney(2)|skin(2)	6	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			TGGTCACACCGATACACATCC	0.562												
TNS4	84951	broad.mit.edu	37	17	38641181	38641181	+	Missense_Mutation	SNP	C	C	T	rs143122913		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:38641181C>T	uc010cxb.2	-	5	1531	c.1367G>A	c.(1366-1368)CGA>CAA	p.R456Q		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	tensin 4 precursor	456	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACCTTGCTCTCGGGTGATGTT	0.522												
KRT25	147183	broad.mit.edu	37	17	38910657	38910657	+	Missense_Mutation	SNP	C	C	A	rs142825612	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:38910657C>A	uc002hve.2	-	2	554	c.493G>T	c.(493-495)GCT>TCT	p.A165S		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	keratin 25	165	Rod.|Coil 1B.					cytoplasm|intermediate filament	structural molecule activity			ovary(2)	2		Breast(137;0.00526)				AAATCATCAGCTGTAAGCCTG	0.388												
KRT27	342574	broad.mit.edu	37	17	38936051	38936051	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:38936051G>A	uc002hvg.2	-	4	788	c.747C>T	c.(745-747)CCC>CCT	p.P249P		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	keratin 27	249	Rod.|Linker 12.					cytoplasm|intermediate filament	structural molecule activity				0		Breast(137;0.000812)				GGTCTACCCCGGGGGCCGCGT	0.537												
KRTAP4-5	85289	broad.mit.edu	37	17	39305733	39305733	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:39305733C>T	uc002hwb.2	-	1	322	c.287G>A	c.(286-288)TGC>TAC	p.C96Y		NM_033188	NP_149445	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	101	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].|17.					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gctggggcagcagcaggtggt	0.124												
DHX58	79132	broad.mit.edu	37	17	40255749	40255749	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:40255749C>A	uc002hyw.3	-	12	1854	c.1631G>T	c.(1630-1632)CGG>CTG	p.R544L	DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Missense_Mutation_p.R537L	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	544	Potential.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding				0		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GAACTGCTGCCGCTGGTTCTC	0.667												
KAT2A	2648	broad.mit.edu	37	17	40271369	40271369	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:40271369G>A	uc002hyx.2	-	6	1027	c.967C>T	c.(967-969)CGG>TGG	p.R323W		NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	323					chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			upper_aerodigestive_tract(1)|lung(1)	2						AAAATGGACCGGAGAAGGCTT	0.572												
NAGLU	4669	broad.mit.edu	37	17	40695344	40695344	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:40695344C>T	uc002hzv.2	+	6	1660	c.1320C>T	c.(1318-1320)GGC>GGT	p.G440G		NM_000263	NP_000254	P54802	ANAG_HUMAN	alpha-N-acetylglucosaminidase precursor	440						lysosome	alpha-N-acetylglucosaminidase activity				0		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CCATGGTAGGCACGGGCATGG	0.602												
PSMC3IP	29893	broad.mit.edu	37	17	40725006	40725006	+	Missense_Mutation	SNP	C	C	T	rs149230650		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:40725006C>T	uc002iai.2	-	8	677	c.634G>A	c.(634-636)GTC>ATC	p.V212I	MLX_uc002iaf.2_3'UTR|MLX_uc002iag.2_3'UTR|MLX_uc002iah.2_3'UTR|PSMC3IP_uc002iaj.2_Missense_Mutation_p.V149I|PSMC3IP_uc002iak.2_Missense_Mutation_p.V200I|PSMC3IP_uc010wgn.1_Missense_Mutation_p.V133I|PSMC3IP_uc010wgo.1_RNA|PSMC3IP_uc010wgp.1_RNA	NM_016556	NP_057640	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein isoform 2	212					DNA recombination|meiosis	nucleus	DNA binding			upper_aerodigestive_tract(1)|skin(1)	2		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GGGAGTGTGACGTTGTAATCT	0.522												
DHX8	1659	broad.mit.edu	37	17	41582101	41582101	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:41582101A>G	uc002idu.1	+	12	1709	c.1636A>G	c.(1636-1638)AAC>GAC	p.N546D	DHX8_uc010wif.1_Missense_Mutation_p.N455D|DHX8_uc010wig.1_Missense_Mutation_p.N546D	NM_004941	NP_004932	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	546						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(2)|kidney(1)|pancreas(1)	4		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CTTTGGGGGCAACAAAGCCTC	0.502												
G6PC3	92579	broad.mit.edu	37	17	42152386	42152386	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:42152386G>A	uc002iex.2	+	4	682	c.466G>A	c.(466-468)GCG>ACG	p.A156T	G6PC3_uc002iey.2_Missense_Mutation_p.A31T|G6PC3_uc010czo.2_Missense_Mutation_p.A12T|G6PC3_uc002iez.2_Missense_Mutation_p.A31T|G6PC3_uc002ifb.2_Missense_Mutation_p.A31T|G6PC3_uc002ifc.2_Intron	NM_138387	NP_612396	Q9BUM1	G6PC3_HUMAN	glucose-6-phosphatase catalytic subunit 3	156	Helical; (Potential).				gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			skin(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTCCTTTTGGCGGTTGGCTT	0.552												
SP2	6668	broad.mit.edu	37	17	45993964	45993964	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:45993964C>A	uc002imk.2	+	3	664	c.527C>A	c.(526-528)CCT>CAT	p.P176H	SP2_uc002iml.2_Missense_Mutation_p.P169H|uc002imm.2_Intron	NM_003110	NP_003101	Q02086	SP2_HUMAN	Sp2 transcription factor	176					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding				0						AGTCACAAGCCTGTCCCCATC	0.597												
HOXB3	3213	broad.mit.edu	37	17	46628308	46628308	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:46628308G>A	uc002inn.2	-	2	1084	c.684C>T	c.(682-684)AGC>AGT	p.S228S	HOXB3_uc010wlm.1_Silent_p.S155S|HOXB3_uc010dbf.2_Silent_p.S228S|HOXB3_uc010dbg.2_Silent_p.S228S|HOXB3_uc002ino.2_Silent_p.S228S|HOXB3_uc010wlk.1_Silent_p.S96S|HOXB3_uc010wll.1_Silent_p.S155S	NM_002146	NP_002137	P14651	HXB3_HUMAN	homeobox B3	228	Homeobox.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						TCTGCCGCTCGCTGAGGTTCA	0.602												
ZNF652	22834	broad.mit.edu	37	17	47389292	47389292	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:47389292G>A	uc002iov.3	-	4	1625	c.1161C>T	c.(1159-1161)TGC>TGT	p.C387C	ZNF652_uc002iow.2_Silent_p.C387C|ZNF652_uc002iou.3_RNA	NM_001145365	NP_001138837	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	387	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TCCTTACCTCGCATCTAAAGG	0.512												
SPOP	8405	broad.mit.edu	37	17	47679303	47679303	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:47679303C>T	uc010dbk.2	-	10	1536	c.904G>A	c.(904-906)GCT>ACT	p.A302T	SPOP_uc002ipb.2_Missense_Mutation_p.A302T|SPOP_uc002ipc.2_Missense_Mutation_p.A302T|SPOP_uc002ipd.2_Missense_Mutation_p.A302T|SPOP_uc002ipe.2_Missense_Mutation_p.A302T|SPOP_uc002ipf.2_Missense_Mutation_p.A302T|SPOP_uc002ipg.2_Missense_Mutation_p.A302T	NM_003563	NP_003554	O43791	SPOP_HUMAN	speckle-type POZ protein	302	Homodimerization.				mRNA processing	nucleus	protein binding			prostate(2)|ovary(2)|lung(2)	6						ATTTCTGCAGCGTTCTCCACG	0.493										Prostate(2;0.17)		
WFIKKN2	124857	broad.mit.edu	37	17	48917397	48917397	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:48917397C>T	uc002isv.3	+	2	1442	c.748C>T	c.(748-750)CGG>TGG	p.R250W	WFIKKN2_uc010dbu.2_Missense_Mutation_p.R157W	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	250	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GTTGGAGGATCGGGAGAATGT	0.602												
STXBP4	252983	broad.mit.edu	37	17	53076712	53076712	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:53076712C>T	uc002iuf.1	+	5	394	c.187C>T	c.(187-189)CGT>TGT	p.R63C	STXBP4_uc010dcc.1_5'UTR|STXBP4_uc010dcd.1_Missense_Mutation_p.R63C	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	63	PDZ.					cytoplasm	calcium ion binding			ovary(1)	1						TTAGGATGGTCGTTTGAAGCC	0.323												
CLTC	1213	broad.mit.edu	37	17	57697508	57697508	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:57697508C>T	uc002ixq.1	+	1	459	c.16C>T	c.(16-18)CCA>TCA	p.P6S	CLTC_uc002ixp.2_Missense_Mutation_p.P6S|CLTC_uc002ixr.1_Missense_Mutation_p.P6S	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	6	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CCAGATTCTGCCAATTCGTTT	0.453			T	ALK|TFE3	ALCL|renal 							
BRIP1	83990	broad.mit.edu	37	17	59878681	59878681	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:59878681A>G	uc002izk.1	-	8	1214	c.1073T>C	c.(1072-1074)CTA>CCA	p.L358P		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	358	Helicase ATP-binding.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			ovary(1)	1						ATCTTGTATTAGTTCTCGGGC	0.403			F|N|Mis			AML|leukemia|breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia			
FTSJ3	117246	broad.mit.edu	37	17	61898199	61898199	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:61898199C>T	uc002jbz.2	-	17	2150	c.2072G>A	c.(2071-2073)CGG>CAG	p.R691Q	FTSJ3_uc002jca.2_Missense_Mutation_p.R691Q	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3	691					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			ovary(1)	1						GCCCCTTTACCGGTTGAAGGA	0.393												
RGS9	8787	broad.mit.edu	37	17	63206652	63206652	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:63206652C>A	uc002jfe.2	+	17	1446	c.1336C>A	c.(1336-1338)CCT>ACT	p.P446T	RGS9_uc010dem.2_Missense_Mutation_p.P443T|RGS9_uc002jfd.2_Missense_Mutation_p.P443T|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_Missense_Mutation_p.P217T	NM_003835	NP_003826	O75916	RGS9_HUMAN	regulator of G-protein signaling 9 isoform 1	446					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			ovary(2)|skin(2)	4						CAGCCCAAGCCCTGTCATCCT	0.582												
ABCA10	10349	broad.mit.edu	37	17	67178331	67178331	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:67178331G>A	uc010dfa.1	-	23	3611	c.2732C>T	c.(2731-2733)ACG>ATG	p.T911M	ABCA10_uc010wqt.1_RNA|ABCA10_uc010dfb.1_Missense_Mutation_p.T512M	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A, member 10	911					transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)					AATAAGCTCCGTGAAGTTAAA	0.294												
TTYH2	94015	broad.mit.edu	37	17	72240133	72240133	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:72240133C>T	uc002jkc.2	+	6	780	c.749C>T	c.(748-750)GCA>GTA	p.A250V	TTYH2_uc010wqw.1_Missense_Mutation_p.A229V	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	tweety 2 isoform 1	250	Helical; Name=4; (Potential).					chloride channel complex|plasma membrane	chloride channel activity|protein binding			ovary(3)|large_intestine(1)	4						TGCTGTGGGGCACTGAGCCTG	0.672												
UNK	85451	broad.mit.edu	37	17	73819409	73819409	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:73819409G>A	uc002jpm.2	+	16	2311	c.2311G>A	c.(2311-2313)GAG>AAG	p.E771K		NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	zinc finger CCCH-type domain containing 5	695	Potential.						nucleic acid binding|zinc ion binding				0			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCGGGCGCCGAGTGCGAGCT	0.677												
SEPT9	10801	broad.mit.edu	37	17	75484906	75484906	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:75484906G>A	uc002jts.3	+	7	1348	c.1222G>A	c.(1222-1224)GTC>ATC	p.V408I	SEPT9_uc010wtk.1_Missense_Mutation_p.V389I|SEPT9_uc002jtt.3_Missense_Mutation_p.V244I|SEPT9_uc002jtu.3_Missense_Mutation_p.V390I|SEPT9_uc002jtv.2_Missense_Mutation_p.V401I|SEPT9_uc002jtw.2_Missense_Mutation_p.V244I|SEPT9_uc010wtl.1_Missense_Mutation_p.V184I|SEPT9_uc002jty.3_Missense_Mutation_p.V157I|SEPT9_uc010wtm.1_Missense_Mutation_p.V157I|SEPT9_uc010wtn.1_Missense_Mutation_p.V157I|SEPT9_uc010dhd.2_Missense_Mutation_p.V296I	NM_001113491	NP_001106963	Q9UHD8	SEPT9_HUMAN	septin 9 isoform a	408					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding|protein binding			breast(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(99;0.153)			GGACACCCGCGTCCACTGCTG	0.612												
PGS1	9489	broad.mit.edu	37	17	76415691	76415691	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:76415691G>A	uc002jvm.2	+	9	1628	c.1616G>A	c.(1615-1617)CGC>CAC	p.R539H	PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_Missense_Mutation_p.R252H|PGS1_uc002jvo.2_RNA|PGS1_uc002jvp.1_Missense_Mutation_p.R252H	NM_024419	NP_077733	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	539					phospholipid biosynthetic process	endoplasmic reticulum|mitochondrion	ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			CAGCCGAGTCGCCAGGTGAAG	0.537												
TBC1D16	125058	broad.mit.edu	37	17	77926499	77926499	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:77926499G>A	uc002jxj.2	-	4	1014	c.898C>T	c.(898-900)CGC>TGC	p.R300C	TBC1D16_uc002jxh.2_5'Flank|TBC1D16_uc002jxi.2_5'Flank|TBC1D16_uc002jxk.1_5'Flank	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	300						intracellular	Rab GTPase activator activity				0	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			AGGTCCACGCGGAACACGCCG	0.672												
SLC26A11	284129	broad.mit.edu	37	17	78195522	78195522	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:78195522G>A	uc002jyb.1	+	3	432	c.163G>A	c.(163-165)GGC>AGC	p.G55S	SGSH_uc002jxz.3_5'Flank|SGSH_uc002jya.3_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.1_Missense_Mutation_p.G55S|SLC26A11_uc002jyd.1_Missense_Mutation_p.G55S|SLC26A11_uc010dhv.1_Missense_Mutation_p.G55S	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	solute carrier family 26, member 11	55	Helical; (Potential).					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity				0	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTTCGTCGCCGGCCTCTCAGT	0.672												
AATK	9625	broad.mit.edu	37	17	79094232	79094232	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:79094232G>A	uc010dia.2	-	11	3584	c.3504C>T	c.(3502-3504)AGC>AGT	p.S1168S	AATK_uc010dhz.2_Intron	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1168						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1)	9	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAGACTCGTCGCTGTCCTCAC	0.721												
NOTUM	147111	broad.mit.edu	37	17	79910971	79910971	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:79910971G>A	uc010wvg.1	-	11	1629	c.1357C>T	c.(1357-1359)CGA>TGA	p.R453*		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	453						extracellular region	hydrolase activity				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AACTGGTCTCGGACGGTGGGG	0.662												
HEXDC	284004	broad.mit.edu	37	17	80399708	80399708	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:80399708G>A	uc002kew.2	+	11	1247	c.1196G>A	c.(1195-1197)CGC>CAC	p.R399H	HEXDC_uc002kev.3_Missense_Mutation_p.A429T|HEXDC_uc010diq.2_Silent_p.P401P|HEXDC_uc010wvm.1_RNA			Q8WVB3	HEXDC_HUMAN	SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D;	399					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			ovary(1)|skin(1)	2	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CCCTACCACCGCCAGCGGAAG	0.637												
EPB41L3	23136	broad.mit.edu	37	18	5434086	5434086	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:5434086C>T	uc002kmt.1	-	7	726	c.640G>A	c.(640-642)GTG>ATG	p.V214M	EPB41L3_uc010wzh.1_Missense_Mutation_p.V214M|EPB41L3_uc002kmu.1_Missense_Mutation_p.V214M|EPB41L3_uc010dkq.1_Missense_Mutation_p.V105M|EPB41L3_uc010dks.1_Missense_Mutation_p.V236M|EPB41L3_uc002kmv.1_Missense_Mutation_p.V105M	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	214	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5						CTTCCGGACACGATGTCATCT	0.542												
TMEM200C	645369	broad.mit.edu	37	18	5890353	5890353	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:5890353C>T	uc002kmx.1	-	1	1751	c.1710G>A	c.(1708-1710)GCG>GCA	p.A570A		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	570						integral to membrane					0						AGCTCTGCTCCGCACCCAGAA	0.647												
LAMA1	284217	broad.mit.edu	37	18	6942091	6942091	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:6942091C>T	uc002knm.2	-	63	9309	c.9215G>A	c.(9214-9216)GGG>GAG	p.G3072E	LAMA1_uc002knk.2_Missense_Mutation_p.G402E|LAMA1_uc002knl.2_Missense_Mutation_p.G525E|LAMA1_uc010wzj.1_Missense_Mutation_p.G2548E	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	3072					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGACTCGGTCCCAGGACAGGA	0.443												
KIAA0802	23255	broad.mit.edu	37	18	8825987	8825987	+	Silent	SNP	G	G	A	rs145849851		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:8825987G>A	uc002knr.2	+	15	4621	c.4479G>A	c.(4477-4479)TCG>TCA	p.S1493S	KIAA0802_uc002knq.2_Silent_p.S1452S|KIAA0802_uc002kns.2_Silent_p.S833S	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	hypothetical protein LOC23255	1803											0						GAGGAAGGTCGCCTAGCCCCA	0.657												
MC2R	4158	broad.mit.edu	37	18	13885437	13885437	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:13885437C>T	uc002ksp.1	-	2	258	c.81G>A	c.(79-81)CCG>CCA	p.P27P		NM_000529	NP_000520	Q01718	ACTHR_HUMAN	melanocortin 2 receptor	27	Helical; Name=1; (By similarity).				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			ovary(4)|skin(1)	5					Corticotropin(DB01285)|Cosyntropin(DB01284)	ATATCTCCTCCGGCAAAACCA	0.418												
CABLES1	91768	broad.mit.edu	37	18	20833000	20833000	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:20833000A>G	uc002kuc.2	+	8	1523	c.1523A>G	c.(1522-1524)CAC>CGC	p.H508R	C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Missense_Mutation_p.H11R|CABLES1_uc002kud.2_Missense_Mutation_p.H243R	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1 isoform 2	508					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)	1	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGTTTCCTCACATTAAGCTG	0.498												
LAMA3	3909	broad.mit.edu	37	18	21500978	21500978	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:21500978G>C	uc002kuq.2	+	61	8089	c.8003G>C	c.(8002-8004)AGA>ACA	p.R2668T	LAMA3_uc002kur.2_Missense_Mutation_p.R2612T|LAMA3_uc002kus.3_Missense_Mutation_p.R1059T|LAMA3_uc002kut.3_Missense_Mutation_p.R1003T	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	laminin alpha 3 subunit isoform 1	2668	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			ovary(8)|skin(2)|central_nervous_system(1)	11	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAAAAGAGAGAGGAGTTGGA	0.403												
DSG3	1830	broad.mit.edu	37	18	29040826	29040826	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:29040826G>T	uc002kws.2	+	7	824	c.715G>T	c.(715-717)GGT>TGT	p.G239C		NM_001944	NP_001935	P32926	DSG3_HUMAN	desmoglein 3 preproprotein	239	Extracellular (Potential).|Cadherin 2.				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)			GGTTGTGAGTGGTGCAGACAA	0.338												
SETBP1	26040	broad.mit.edu	37	18	42531485	42531485	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:42531485G>A	uc010dni.2	+	4	2476	c.2180G>A	c.(2179-2181)CGG>CAG	p.R727Q		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	SET binding protein 1 isoform a	727						nucleus	DNA binding			upper_aerodigestive_tract(2)|large_intestine(1)	3				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGCAAGAAGCGGGGCAGGAAG	0.582									Schinzel-Giedion_syndrome			
SLC14A1	6563	broad.mit.edu	37	18	43319189	43319189	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:43319189G>T	uc010xcn.1	+	8	1044	c.725G>T	c.(724-726)GGG>GTG	p.G242V	SLC14A1_uc010dnk.2_Missense_Mutation_p.G298V|SLC14A1_uc002lbf.3_Missense_Mutation_p.G242V|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.G137V|SLC14A1_uc002lbh.3_Missense_Mutation_p.G134V|SLC14A1_uc002lbi.3_Missense_Mutation_p.G110V|SLC14A1_uc002lbj.3_Missense_Mutation_p.G298V|SLC14A1_uc002lbk.3_Missense_Mutation_p.G242V	NM_001146036	NP_001139508	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter),	242						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|pancreas(1)	2						CCATGGACAGGGGGCATTTTC	0.483												
KIAA1632	57724	broad.mit.edu	37	18	43464743	43464743	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:43464743T>C	uc002lbm.2	-	30	5243	c.5143A>G	c.(5143-5145)AAA>GAA	p.K1715E	KIAA1632_uc010xcq.1_Missense_Mutation_p.K269E|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.K590E	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN	hypothetical protein LOC57724	1715					autophagy						0						TCAAGTACTTTTCTGCACTCT	0.408												
MALT1	10892	broad.mit.edu	37	18	56363666	56363666	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:56363666C>T	uc002lhm.1	+	3	703	c.445C>T	c.(445-447)CGG>TGG	p.R149W	MALT1_uc002lhn.1_Missense_Mutation_p.R149W	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma	149	Ig-like C2-type 1.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			ovary(2)|lung(1)|central_nervous_system(1)	4						ACTGTGTTGCCGGGCAACTGG	0.308			T	BIRC3	MALT							
SALL3	27164	broad.mit.edu	37	18	76755286	76755286	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:76755286G>T	uc002lmt.2	+	2	3295	c.3295G>T	c.(3295-3297)GCG>TCG	p.A1099S	SALL3_uc010dra.2_Missense_Mutation_p.A634S	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1099					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CCCGGGCCTGGCGCCCATGCT	0.736												
CTDP1	9150	broad.mit.edu	37	18	77477647	77477647	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:77477647G>A	uc002lnh.1	+	9	2328	c.2181G>A	c.(2179-2181)CCG>CCA	p.P727P	CTDP1_uc002lni.1_Silent_p.P727P|CTDP1_uc010drd.1_Silent_p.P727P	NM_004715	NP_004706	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II,	727	BRCT.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity				0		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGCTCTTCCCGCTCAGGGACG	0.642												
PQLC1	80148	broad.mit.edu	37	18	77664150	77664150	+	Silent	SNP	G	G	A	rs142557456	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:77664150G>A	uc002lnl.2	-	6	814	c.642C>T	c.(640-642)GAC>GAT	p.D214D	PQLC1_uc010dre.2_Silent_p.D131D|PQLC1_uc002lnk.2_Silent_p.D196D|PQLC1_uc010xfm.1_Missense_Mutation_p.T124M	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1 isoform 1	214	PQ-loop 2.					integral to membrane				large_intestine(1)|ovary(1)	2		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		TCTTGAAGGCGTCACCACTGG	0.652												
ZNF555	148254	broad.mit.edu	37	19	2853027	2853027	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:2853027A>G	uc002lwo.2	+	4	1053	c.964A>G	c.(964-966)AGT>GGT	p.S322G	ZNF555_uc002lwn.3_Missense_Mutation_p.S321G	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	322	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1				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)		GGAGGCCTTCAGTTATTCTTC	0.413												
NCLN	56926	broad.mit.edu	37	19	3204636	3204636	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:3204636G>T	uc002lxi.2	+	9	1249	c.1095G>T	c.(1093-1095)GAG>GAT	p.E365D	NCLN_uc002lxh.1_RNA|NCLN_uc002lxj.1_RNA|NCLN_uc002lxk.2_Missense_Mutation_p.E10D	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	nicalin precursor	365	Lumenal (Potential).				proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTGGCGGAGGACGTGCTGG	0.687												
GIPC3	126326	broad.mit.edu	37	19	3586647	3586647	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:3586647C>T	uc002lyd.3	+	2	407	c.380C>T	c.(379-381)ACG>ATG	p.T127M		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	127	PDZ.									breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACCATCACGGACAACGGG	0.647											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
TJP3	27134	broad.mit.edu	37	19	3747982	3747982	+	Missense_Mutation	SNP	C	C	G	rs149440570	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:3747982C>G	uc010xhv.1	+	18	2612	c.2612C>G	c.(2611-2613)CCG>CGG	p.P871R	TJP3_uc010xhs.1_Missense_Mutation_p.P838R|TJP3_uc010xht.1_Missense_Mutation_p.P802R|TJP3_uc010xhu.1_Missense_Mutation_p.P847R|TJP3_uc010xhw.1_Missense_Mutation_p.P857R	NM_014428	NP_055243	O95049	ZO3_HUMAN	tight junction protein 3	852						tight junction	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGAGCCCCCGGCTCCAGCC	0.697												
MPND	84954	broad.mit.edu	37	19	4345956	4345956	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:4345956C>T	uc002mae.2	+	3	576	c.509C>T	c.(508-510)ACG>ATG	p.T170M	MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.T170M|MPND_uc002maf.2_Missense_Mutation_p.T170M|MPND_uc002mah.2_Missense_Mutation_p.T58M|MPND_uc002mai.2_Missense_Mutation_p.T58M	NM_032868	NP_116257	Q8N594	MPND_HUMAN	MPN domain containing isoform 1	170							peptidase activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCTGCACACGCCTGCCACG	0.632												
TICAM1	148022	broad.mit.edu	37	19	4816266	4816266	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:4816266C>T	uc002mbi.2	-	2	2375	c.2124G>A	c.(2122-2124)ACG>ACA	p.T708T		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	708	Sufficient to induce apoptosis.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CTGCCTCCTGCGTCTTGTCCT	0.637												
TICAM1	148022	broad.mit.edu	37	19	4818055	4818055	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:4818055G>A	uc002mbi.2	-	2	586	c.335C>T	c.(334-336)TCG>TTG	p.S112L		NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	112					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			breast(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GTCCCGCAGCGAGGCGGGGCA	0.687												
MAP2K7	5609	broad.mit.edu	37	19	7975353	7975353	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:7975353G>A	uc002mit.2	+	5	528	c.463G>A	c.(463-465)GGG>AGG	p.G155R	MAP2K7_uc002miv.2_Missense_Mutation_p.G155R|MAP2K7_uc010xka.1_RNA|MAP2K7_uc010xkb.1_Missense_Mutation_p.G155R|MAP2K7_uc010dvv.2_Missense_Mutation_p.G30R	NM_145185	NP_660186	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	155	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor 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	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			large_intestine(7)|central_nervous_system(2)|ovary(1)|lung(1)	11					Etoposide(DB00773)	GCGGCGCTCCGGGAACAAGGA	0.632												
FBN3	84467	broad.mit.edu	37	19	8153044	8153044	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:8153044G>A	uc002mjf.2	-	51	6417	c.6396C>T	c.(6394-6396)GTC>GTT	p.V2132V	FBN3_uc002mje.2_5'UTR	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	fibrillin 3 precursor	2132	EGF-like 34; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						AGGGGTGGCCGACAGAGCACT	0.612												
CD320	51293	broad.mit.edu	37	19	8367417	8367417	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:8367417C>T	uc002mjj.1	-	5	844	c.779G>A	c.(778-780)CGC>CAC	p.R260H	CD320_uc002mjk.1_RNA|CD320_uc002mjl.1_Missense_Mutation_p.R218H	NM_016579	NP_057663	Q9NPF0	CD320_HUMAN	8D6 antigen isoform 1 precursor	260	Cytoplasmic (Potential).				regulation of cell growth	endoplasmic reticulum|integral to membrane	growth factor activity				0						CCCCAGTGGGCGGAGGCGCTC	0.622												
MYO1F	4542	broad.mit.edu	37	19	8609255	8609255	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:8609255G>A	uc002mkg.2	-	14	1564	c.1450C>T	c.(1450-1452)CAG>TAG	p.Q484*		NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	484	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						ACAGCCGCCTGCAGCTTCTGC	0.677												
MYO1F	4542	broad.mit.edu	37	19	8619539	8619539	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:8619539G>A	uc002mkg.2	-	3	344	c.230C>T	c.(229-231)GCG>GTG	p.A77V	MYO1F_uc002mkh.2_Missense_Mutation_p.A77V|MYO1F_uc010xkf.1_Missense_Mutation_p.A77V	NM_012335	NP_036467	O00160	MYO1F_HUMAN	myosin IF	77	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(1)	3						CAGCCTCACCGCGCCCTGATA	0.627												
MUC16	94025	broad.mit.edu	37	19	9071218	9071218	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:9071218C>T	uc002mkp.2	-	3	16432	c.16228G>A	c.(16228-16230)GCA>ACA	p.A5410T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	5412	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						TCTGTGTGTGCAGTGTCTTTG	0.502												
PDE4A	5141	broad.mit.edu	37	19	10574506	10574506	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:10574506A>G	uc002moj.2	+	14	1889	c.1781A>G	c.(1780-1782)AAC>AGC	p.N594S	PDE4A_uc002mok.2_Missense_Mutation_p.N568S|PDE4A_uc002mol.2_Missense_Mutation_p.N533S|PDE4A_uc002mom.2_Missense_Mutation_p.N355S|PDE4A_uc002mon.2_Missense_Mutation_p.N49S|PDE4A_uc002moo.2_Missense_Mutation_p.N260S	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	phosphodiesterase 4A isoform 1	594	Catalytic.	Binds AMP, but not cAMP (By similarity).			signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GACCTCAGCAACCCCACCAAG	0.617												
ILF3	3609	broad.mit.edu	37	19	10787915	10787915	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:10787915C>A	uc002mpn.2	+	5	805	c.488C>A	c.(487-489)CCT>CAT	p.P163H	ILF3_uc002mpm.2_Missense_Mutation_p.P163H|ILF3_uc002mpl.2_Missense_Mutation_p.P163H|ILF3_uc002mpk.2_Missense_Mutation_p.P163H|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Missense_Mutation_p.P163H|ILF3_uc002mpp.2_5'UTR	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	163	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			ACAAAAGAGCCTCCATTGTCC	0.458												
DNM2	1785	broad.mit.edu	37	19	10883278	10883278	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:10883278T>C	uc002mps.1	+	3	523	c.359T>C	c.(358-360)ATC>ACC	p.I120T	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.I120T|DNM2_uc002mpv.1_Missense_Mutation_p.I120T|DNM2_uc002mpu.1_Missense_Mutation_p.I120T|DNM2_uc010dxl.1_Missense_Mutation_p.I120T	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	120					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			central_nervous_system(2)|skin(2)|ovary(1)|breast(1)	6			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CCAGTGCCCATCAACCTTCGA	0.552												
LDLR	3949	broad.mit.edu	37	19	11216248	11216248	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:11216248C>T	uc002mqk.3	+	4	834	c.666C>T	c.(664-666)TGC>TGT	p.C222C	LDLR_uc010xlk.1_Silent_p.C222C|LDLR_uc010xll.1_Silent_p.C181C|LDLR_uc010xlm.1_Silent_p.C75C|LDLR_uc010xln.1_Intron|LDLR_uc010xlo.1_Intron	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	222	LDL-receptor class A 5.|Extracellular (Potential).		C -> Y (in FH).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			ovary(2)|skin(2)	4		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GCCCCGACTGCAAGGACAAAT	0.642												
DOCK6	57572	broad.mit.edu	37	19	11361640	11361640	+	Silent	SNP	C	C	T	rs114634227	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:11361640C>T	uc002mqs.3	-	6	671	c.630G>A	c.(628-630)GCG>GCA	p.A210A		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	210					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3						CTTCTGGGGCCGCCCGCTCTA	0.662												
ZNF136	7695	broad.mit.edu	37	19	12298640	12298640	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:12298640A>G	uc002mti.2	+	4	1547	c.1447A>G	c.(1447-1449)AAA>GAA	p.K483E	ZNF136_uc010xmh.1_Missense_Mutation_p.K417E	NM_003437	NP_003428	P52737	ZN136_HUMAN	zinc finger protein 136	483	C2H2-type 13.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			ovary(1)|pancreas(1)	2						GCGATGTGGTAAAGCCTTTAG	0.428												
TNPO2	30000	broad.mit.edu	37	19	12822392	12822392	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:12822392G>A	uc002muo.2	-	10	1111	c.926C>T	c.(925-927)TCG>TTG	p.S309L	TNPO2_uc002mup.2_Missense_Mutation_p.S401L|TNPO2_uc002muq.2_Missense_Mutation_p.S309L|TNPO2_uc002mur.2_Missense_Mutation_p.S309L	NM_001136196	NP_001129668	O14787	TNPO2_HUMAN	transportin 2 (importin 3, karyopherin beta 2b)	309	HEAT 5.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			ovary(1)	1						GTCAATTTCCGAGTACTTCAT	0.582												
IL27RA	9466	broad.mit.edu	37	19	14161650	14161650	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:14161650G>A	uc002mxx.2	+	11	1906	c.1483G>A	c.(1483-1485)GCT>ACT	p.A495T		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	class I cytokine receptor precursor	495	Extracellular (Potential).|Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity				0						ATCTACCATCGCTGGACAGGG	0.592												
SLC1A6	6511	broad.mit.edu	37	19	15061128	15061128	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:15061128C>T	uc002naa.1	-	9	1582	c.1574G>A	c.(1573-1575)CGG>CAG	p.R525Q	SLC1A6_uc010dzu.1_Missense_Mutation_p.R447Q|SLC1A6_uc010xod.1_Missense_Mutation_p.R461Q	NM_005071	NP_005062	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity	525					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			pancreas(3)|ovary(2)|skin(1)	6					L-Glutamic Acid(DB00142)	CTCCAGCTCCCGCTGAGACAA	0.612												
MED26	9441	broad.mit.edu	37	19	16687986	16687986	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:16687986C>A	uc002nen.1	-	3	916	c.655G>T	c.(655-657)GGC>TGC	p.G219C	MED26_uc002nee.2_RNA	NM_004831	NP_004822	O95402	MED26_HUMAN	mediator complex subunit 26	219					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			ovary(2)	2						GGGATCTTGCCACTGTGCTTG	0.667												
KIAA1683	80726	broad.mit.edu	37	19	18368002	18368002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:18368002C>T	uc002nin.2	-	4	3747	c.3531G>A	c.(3529-3531)TGG>TGA	p.W1177*	PDE4C_uc002nil.3_5'Flank|KIAA1683_uc010ebn.2_Nonsense_Mutation_p.W1364*|KIAA1683_uc010xqe.1_Nonsense_Mutation_p.W1131*|KIAA1683_uc010xqf.1_RNA	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	1177						mitochondrion				ovary(2)	2						AGATGCCAGGCCAATGCATGT	0.597												
GATAD2A	54815	broad.mit.edu	37	19	19609358	19609358	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:19609358G>A	uc010xqt.1	+	8	1343	c.1031G>A	c.(1030-1032)CGA>CAA	p.R344Q	GATAD2A_uc010xqu.1_5'UTR|GATAD2A_uc010xqv.1_Missense_Mutation_p.R363Q|GATAD2A_uc010xqw.1_Missense_Mutation_p.R171Q	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	344					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						CCAGCAAGCCGACAGGCGGCC	0.647												
GMIP	51291	broad.mit.edu	37	19	19747534	19747534	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:19747534A>C	uc002nnd.2	-	13	1426	c.1309T>G	c.(1309-1311)TCA>GCA	p.S437A	GMIP_uc010xrb.1_Missense_Mutation_p.S437A|GMIP_uc010xrc.1_Missense_Mutation_p.S434A	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	GEM interacting protein	437					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			ovary(1)	1						GAAGTGGGTGAGTCCAGGGAC	0.627												
ZNF254	9534	broad.mit.edu	37	19	24289419	24289419	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:24289419G>A	uc002nru.2	+	3	361	c.227G>A	c.(226-228)CGA>CAA	p.R76Q	ZNF254_uc010xrk.1_Intron|ZNF254_uc002nrt.1_RNA	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	76	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AATATGAAGCGACATGAGATG	0.423												
CHST8	64377	broad.mit.edu	37	19	34263835	34263835	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:34263835C>T	uc002nus.3	+	5	1647	c.1142C>T	c.(1141-1143)GCG>GTG	p.A381V	CHST8_uc002nut.3_Missense_Mutation_p.A381V|CHST8_uc002nuu.2_Missense_Mutation_p.A381V	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0)	381	Lumenal (Potential).				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			skin(2)|large_intestine(1)|ovary(1)	4	Esophageal squamous(110;0.162)					TCGCAGGAGGCGCGGACCACA	0.612												
ARHGAP33	115703	broad.mit.edu	37	19	36279044	36279044	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:36279044C>A	uc002obs.1	+	21	3179	c.3094C>A	c.(3094-3096)CCC>ACC	p.P1032T	ARHGAP33_uc002obt.1_Missense_Mutation_p.P1029T|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Missense_Mutation_p.P781T	NM_052948	NP_443180	O14559	RHG33_HUMAN	sorting nexin 26	1193					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			skin(2)|ovary(1)|pancreas(1)	4						TCCTGCCCACCCCCGAAGCCG	0.687												
LRFN3	79414	broad.mit.edu	37	19	36430878	36430878	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:36430878C>T	uc002oco.2	+	2	1003	c.551C>T	c.(550-552)ACG>ATG	p.T184M		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III	184	Extracellular (Potential).|LRR 6.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane					0	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AACGTCAACACGTTGGGCCTC	0.652												
SIPA1L3	23094	broad.mit.edu	37	19	38573489	38573489	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:38573489G>A	uc002ohk.2	+	3	1793	c.1284G>A	c.(1282-1284)CCG>CCA	p.P428P		NM_015073	NP_055888	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like	428					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(1)|central_nervous_system(1)	2			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCAGCTGCCCGCACTTCCGCA	0.647												
IL28B	282617	broad.mit.edu	37	19	39734753	39734753	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:39734753C>T	uc010xut.1	-	3	307	c.303G>A	c.(301-303)ACG>ACA	p.T101T	IL28B_uc010xuu.1_Silent_p.T101T	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	interleukin 28B	101					response to virus	extracellular space	cytokine activity				0	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GAACCTTCAGCGTCAGGGCCA	0.488												
SAMD4B	55095	broad.mit.edu	37	19	39847579	39847579	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:39847579G>T	uc002olb.2	+	5	1081	c.46G>T	c.(46-48)GGC>TGC	p.G16C	SAMD4B_uc002ola.2_Missense_Mutation_p.G16C	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	16							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTGGTTCAAAGGCTGGAATGA	0.662												
SAMD4B	55095	broad.mit.edu	37	19	39868230	39868230	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:39868230G>A	uc002olb.2	+	10	2245	c.1210G>A	c.(1210-1212)GCC>ACC	p.A404T	SAMD4B_uc002ola.2_Missense_Mutation_p.A404T	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	404							protein binding				0	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CGTGGCTGCCGCCACCACCAC	0.657												
PRX	57716	broad.mit.edu	37	19	40900053	40900053	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:40900053G>A	uc002onr.2	-	7	4475	c.4206C>T	c.(4204-4206)CCC>CCT	p.P1402P	PRX_uc002onq.2_Silent_p.P1263P|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1402					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTCTCTGACGGGGGACTTGG	0.692												
PRX	57716	broad.mit.edu	37	19	40901223	40901223	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:40901223G>A	uc002onr.2	-	7	3305	c.3036C>T	c.(3034-3036)GCC>GCT	p.A1012A	PRX_uc002onq.2_Silent_p.A873A|PRX_uc002ons.2_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	periaxin isoform 2	1012					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			ovary(2)	2			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTTGAGGTCGGCCCCTGCCA	0.652												
SPTBN4	57731	broad.mit.edu	37	19	41066148	41066148	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:41066148G>T	uc002ony.2	+	27	5840	c.5754G>T	c.(5752-5754)CAG>CAT	p.Q1918H	SPTBN4_uc002onx.2_Missense_Mutation_p.Q1918H|SPTBN4_uc002onz.2_Missense_Mutation_p.Q1918H|SPTBN4_uc010egx.2_Missense_Mutation_p.Q661H|SPTBN4_uc002ooa.2_Missense_Mutation_p.Q594H	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4 isoform	1918	Spectrin 16.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			ovary(3)|central_nervous_system(1)|skin(1)	5			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCGGGAGCAGGAGGTGCTGC	0.667												
CCDC97	90324	broad.mit.edu	37	19	41822576	41822576	+	Missense_Mutation	SNP	C	C	T	rs142783394		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:41822576C>T	uc002oqg.2	+	2	456	c.334C>T	c.(334-336)CGC>TGC	p.R112C	CYP2F1_uc010xvw.1_Intron	NM_052848	NP_443080	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	112											0						GGAGCGCTTCCGCACAGGCCT	0.637												
ZNF574	64763	broad.mit.edu	37	19	42584249	42584249	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:42584249C>T	uc002osm.3	+	2	1660	c.1491C>T	c.(1489-1491)TGC>TGT	p.C497C	ZNF574_uc002osk.3_Silent_p.C587C	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	497	C2H2-type 10; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				GCCATAAATGCAGCATTTGTG	0.592												
ZNF574	64763	broad.mit.edu	37	19	42584642	42584642	+	Silent	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:42584642G>T	uc002osm.3	+	2	2053	c.1884G>T	c.(1882-1884)GTG>GTT	p.V628V	ZNF574_uc002osk.3_Silent_p.V718V	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	628	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)				ACCAGCTCGTGGTCCATGCCG	0.682												
ZNF526	116115	broad.mit.edu	37	19	42729572	42729572	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:42729572G>T	uc002osz.1	+	3	1173	c.1017G>T	c.(1015-1017)AAG>AAT	p.K339N		NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	zinc finger protein 526	339	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0704)				CCTGCTCCAAGGTCTTCAAGA	0.607												
CIC	23152	broad.mit.edu	37	19	42794850	42794850	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:42794850G>T	uc002otf.1	+	10	1970	c.1930G>T	c.(1930-1932)GGA>TGA	p.G644*		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	644	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				AGAGGGCGGCGGAGCCAGAGT	0.692			T	DUX4	soft tissue sarcoma							
CIC	23152	broad.mit.edu	37	19	42795222	42795222	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:42795222C>A	uc002otf.1	+	10	2342	c.2302C>A	c.(2302-2304)CCG>ACG	p.P768T		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	capicua homolog	768	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11		Prostate(69;0.00682)				GGTGGGCACCCCGGGGTATGG	0.697			T	DUX4	soft tissue sarcoma							
PAFAH1B3	5050	broad.mit.edu	37	19	42801471	42801471	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:42801471T>C	uc002otg.2	-	5	790	c.455A>G	c.(454-456)AAC>AGC	p.N152S	PAFAH1B3_uc010xwi.1_Missense_Mutation_p.N152S|PAFAH1B3_uc010xwj.1_Missense_Mutation_p.N152S	NM_002573	NP_002564	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase,	152					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding				0		Prostate(69;0.0704)				CACCTGTCGGTTCTTCTCCCG	0.587												
LIPE	3991	broad.mit.edu	37	19	42910455	42910455	+	Silent	SNP	G	G	A	rs141921519	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:42910455G>A	uc002otr.2	-	7	2500	c.2223C>T	c.(2221-2223)TAC>TAT	p.Y741Y	uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	hormone-sensitive lipase	741					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			ovary(1)|breast(1)	2		Prostate(69;0.00682)				CCCGCACCCCGTAGGCTGCTG	0.662												
CXCL17	284340	broad.mit.edu	37	19	42938009	42938009	+	Splice_Site	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:42938009C>A	uc002otu.2	-	2	232	c.80_splice	c.e2-1	p.G27_splice	uc010eif.1_Intron|uc002ott.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_198477	NP_940879	Q6UXB2	VCC1_HUMAN	chemokine (C-X-C motif) ligand 17 precursor						angiogenesis|cell differentiation|chemotaxis	extracellular region					0		Prostate(69;0.00899)				CTGGCGACCCCTGTCGGAAGG	0.527											OREG0025504	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF296	162979	broad.mit.edu	37	19	45575370	45575370	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:45575370G>A	uc002pao.2	-	3	974	c.917C>T	c.(916-918)CCG>CTG	p.P306L		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	zinc finger protein 296	306					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						ATGGACAGCCGGCTCCGGAGG	0.706												
PPP1R13L	10848	broad.mit.edu	37	19	45899679	45899679	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:45899679C>T	uc002pbn.2	-	5	805	c.728G>A	c.(727-729)CGC>CAC	p.R243H	PPP1R13L_uc002pbo.2_Missense_Mutation_p.R243H|PPP1R13L_uc002pbp.2_Missense_Mutation_p.R243H	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13	243	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			skin(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGGCCGCCGGCGCAGCGTCAG	0.652												
OPA3	80207	broad.mit.edu	37	19	46088007	46088007	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:46088007A>C	uc002pck.3	-	1	116	c.16T>G	c.(16-18)TTC>GTC	p.F6V	OPA3_uc002pcj.3_Missense_Mutation_p.F6V|OPA3_uc010xxk.1_Intron	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN	OPA3 protein isoform b	6					response to stimulus|visual perception	mitochondrion					0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GCCATAGGGAACGCGCCCACC	0.642												
QPCTL	54814	broad.mit.edu	37	19	46205129	46205129	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:46205129C>T	uc010xxr.1	+	6	1181	c.960C>T	c.(958-960)CCC>CCT	p.P320P	QPCTL_uc010ekn.2_Silent_p.P226P	NM_017659	NP_060129	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like isoform	320					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	Golgi membrane|integral to membrane	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding			skin(1)	1		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		CCGGGGAGCCCTTTGGCTCTG	0.577												
DMWD	1762	broad.mit.edu	37	19	46289676	46289676	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:46289676C>T	uc002pdj.1	-	3	1124	c.1078G>A	c.(1078-1080)GTG>ATG	p.V360M	DMWD_uc002pdk.1_Missense_Mutation_p.V360M|DMWD_uc010eko.1_Missense_Mutation_p.V45M	NM_004943	NP_004934	Q09019	DMWD_HUMAN	dystrophia myotonica-containing WD repeat motif	360	WD 3.				meiosis						0		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGAGCCACCACGCGGCCCTCG	0.667												
STRN4	29888	broad.mit.edu	37	19	47242056	47242056	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:47242056C>T	uc002pfl.2	-	2	405	c.372G>A	c.(370-372)GCG>GCA	p.A124A	STRN4_uc002pfm.2_Silent_p.A124A|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	124	Potential.					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding				0		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CCTGCTTCAGCGCATACTCTA	0.607												
EHD2	30846	broad.mit.edu	37	19	48239678	48239678	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:48239678G>T	uc002phj.3	+	5	1218	c.968G>T	c.(967-969)GGG>GTG	p.G323V	EHD2_uc010xyu.1_Missense_Mutation_p.G187V|EHD2_uc010xyv.1_Missense_Mutation_p.G6V	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	323					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			ovary(1)|skin(1)	2		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TCTGTGTTTGGGAAGGAGAAC	0.408												
TULP2	7288	broad.mit.edu	37	19	49391480	49391480	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:49391480A>G	uc002pkz.2	-	8	826	c.675T>C	c.(673-675)TCT>TCC	p.S225S		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	225					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TCGTCCCTGTAGACTCAGAGG	0.552												
PRMT1	3276	broad.mit.edu	37	19	50191485	50191485	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:50191485G>A	uc010enf.1	+	11	1141	c.1099G>A	c.(1099-1101)GAC>AAC	p.D367N	CPT1C_uc002ppl.3_5'Flank|CPT1C_uc002ppi.2_5'Flank|CPT1C_uc002ppk.2_5'Flank|CPT1C_uc010eng.2_5'Flank|CPT1C_uc010enh.2_5'Flank|CPT1C_uc002ppj.2_5'Flank|PRMT1_uc002ppc.1_RNA|PRMT1_uc002ppd.2_Missense_Mutation_p.D343N|PRMT1_uc002ppe.2_Missense_Mutation_p.D349N|PRMT1_uc002ppf.2_RNA|PRMT1_uc002ppg.2_Missense_Mutation_p.D314N|PRMT1_uc010ybb.1_RNA|C19orf76_uc002pph.2_5'Flank	NM_001536	NP_001527	Q8WUW5	Q8WUW5_HUMAN	HMT1 hnRNP methyltransferase-like 2 isoform 1	348						cytoplasm	protein methyltransferase activity			ovary(1)	1		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		CTGCTCCACCGACTACCGGAT	0.687												
SPIB	6689	broad.mit.edu	37	19	50926143	50926143	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:50926143C>T	uc002psd.2	+	4	213	c.188C>T	c.(187-189)CCG>CTG	p.P63L	SPIB_uc002pse.2_Missense_Mutation_p.P63L|SPIB_uc010ycc.1_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Spi-B transcription factor (Spi-1/PU.1 related)	63					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding			lung(1)|kidney(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCCTTCGACCCGGCAGCAGCC	0.657												
LRRC4B	94030	broad.mit.edu	37	19	51021443	51021443	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:51021443C>T	uc002pss.2	-	3	1664	c.1527G>A	c.(1525-1527)ACG>ACA	p.T509T		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B precursor	509	Gly-rich.|Extracellular (Potential).					cell junction|integral to membrane|presynaptic membrane				central_nervous_system(1)|skin(1)	2		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTTCCTTCTCCGTCCCCCGCG	0.642												
SYT3	84258	broad.mit.edu	37	19	51129177	51129177	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:51129177G>A	uc002pst.2	-	5	2013	c.1379C>T	c.(1378-1380)GCG>GTG	p.A460V	SYT3_uc002psv.2_Missense_Mutation_p.A460V|SYT3_uc010ycd.1_Missense_Mutation_p.A460V	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	460	C2 2.|Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GAGGTCCATCGCTTTGAGGTT	0.373												
ZNF175	7728	broad.mit.edu	37	19	52091581	52091581	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:52091581C>T	uc002pxb.2	+	5	2375	c.1997C>T	c.(1996-1998)ACG>ATG	p.T666M	uc002pxc.1_5'Flank	NM_007147	NP_009078	Q9Y473	ZN175_HUMAN	zinc finger protein 175	666					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CGAATTCACACGGGAGAAAGA	0.423												
FPR3	2359	broad.mit.edu	37	19	52327888	52327888	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:52327888G>A	uc002pxt.1	+	2	1071	c.887G>A	c.(886-888)TGC>TAC	p.C296Y		NM_002030	NP_002021	P25089	FPR3_HUMAN	formyl peptide receptor-like 2	296	Helical; Name=7; (Potential).				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			lung(4)|breast(1)|skin(1)	6						TTTAACAGCTGCCTCAACCCA	0.448												
VSTM1	284415	broad.mit.edu	37	19	54545207	54545207	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:54545207T>C	uc002qcw.3	-	7	692	c.516A>G	c.(514-516)AGA>AGG	p.R172R	VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Silent_p.R141R	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	172						integral to membrane					0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AATGGCTGGTTCTGAAAGAGA	0.368												
VSTM1	284415	broad.mit.edu	37	19	54561722	54561722	+	Missense_Mutation	SNP	C	C	T	rs144159930		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:54561722C>T	uc002qcw.3	-	3	369	c.193G>A	c.(193-195)GAC>AAC	p.D65N	VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.D65N	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	65	Ig-like V-type.					integral to membrane					0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TACCCAGAGTCGTTCACCTTG	0.547												
BRSK1	84446	broad.mit.edu	37	19	55816953	55816953	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:55816953C>T	uc002qkg.2	+	16	2166	c.1889C>T	c.(1888-1890)TCG>TTG	p.S630L	BRSK1_uc002qkf.2_Missense_Mutation_p.S646L|BRSK1_uc002qkh.2_Missense_Mutation_p.S325L	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	630					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|lung(1)|breast(1)|skin(1)	6		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCCTTTCTGTCGGTGAGGGGC	0.557												
FIZ1	84922	broad.mit.edu	37	19	56109101	56109101	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:56109101C>T	uc002qli.3	-	2	221	c.131G>A	c.(130-132)CGG>CAG	p.R44Q	FIZ1_uc002qlj.3_Missense_Mutation_p.R44Q|ZNF524_uc002qlk.1_5'Flank	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	44	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGCTGTGTGCCGGGCAAAGTG	0.677												
ZNF835	90485	broad.mit.edu	37	19	57176405	57176405	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:57176405G>A	uc010ygo.1	-	2	228	c.228C>T	c.(226-228)CGC>CGT	p.R76R	ZNF835_uc010ygn.1_Silent_p.R54R	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4						TGAATTCATCGCGTTCCTGCA	0.627												
ZSCAN1	284312	broad.mit.edu	37	19	58565232	58565232	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:58565232C>A	uc002qrc.1	+	6	1287	c.1040C>A	c.(1039-1041)CCG>CAG	p.P347Q		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	347					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTGGAGCCACCGAGGAAGAAA	0.667												
ZNF135	7694	broad.mit.edu	37	19	58574899	58574899	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:58574899C>T	uc010yhq.1	+	4	342	c.246C>T	c.(244-246)GGC>GGT	p.G82G	ZNF135_uc002qre.2_Silent_p.G82G|ZNF135_uc002qrd.1_Silent_p.G40G|ZNF135_uc002qrf.2_Silent_p.G40G|ZNF135_uc002qrg.2_Silent_p.G40G|ZNF135_uc010yhr.1_5'UTR	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	82					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TTCCCCAAGGCGTGTACCCAG	0.567												
ZSCAN22	342945	broad.mit.edu	37	19	58846408	58846408	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:58846408C>T	uc002qsc.2	+	2	387	c.240C>T	c.(238-240)CCC>CCT	p.P80P	ZSCAN22_uc010yhz.1_Silent_p.P80P	NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	80	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GGCTGCAGCCCGAGGCGCACT	0.667												
ZSCAN22	342945	broad.mit.edu	37	19	58846467	58846467	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:58846467C>T	uc002qsc.2	+	2	446	c.299C>T	c.(298-300)GCG>GTG	p.A100V	ZSCAN22_uc010yhz.1_Missense_Mutation_p.A100V	NM_181846	NP_862829	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	100	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			pancreas(1)	1		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TTCCTGGGTGCGCTGCCCCCA	0.652												
ZNF132	7691	broad.mit.edu	37	19	58945306	58945306	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:58945306A>G	uc002qst.3	-	3	1906	c.1505T>C	c.(1504-1506)CTC>CCC	p.L502P		NM_003433	NP_003424	P52740	ZN132_HUMAN	zinc finger protein 132	502	C2H2-type 11.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GTGCTGGATGAGGGTGGAGCT	0.498												
SH3YL1	26751	broad.mit.edu	37	2	231124	231124	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:231124C>T	uc002qvx.2	-	7	685	c.601G>A	c.(601-603)GAA>AAA	p.E201K	SH3YL1_uc002qvy.2_Missense_Mutation_p.E201K|SH3YL1_uc002qvz.2_RNA|SH3YL1_uc002qwa.2_RNA|SH3YL1_uc010ewe.2_Missense_Mutation_p.E105K|SH3YL1_uc002qvu.2_RNA|SH3YL1_uc002qvv.2_Missense_Mutation_p.E105K|SH3YL1_uc002qvw.2_RNA	NM_015677	NP_056492	Q96HL8	SH3Y1_HUMAN	SH3 domain containing, Ysc84-like 1 isoform 1	201										ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		TAAAGATCTTCGGCTTGAGCA	0.343												
SH3YL1	26751	broad.mit.edu	37	2	234203	234203	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:234203T>C	uc002qvx.2	-	5	445	c.361A>G	c.(361-363)ACC>GCC	p.T121A	SH3YL1_uc002qvy.2_Missense_Mutation_p.T121A|SH3YL1_uc002qvz.2_RNA|SH3YL1_uc002qwa.2_RNA|SH3YL1_uc010ewe.2_Missense_Mutation_p.T25A|SH3YL1_uc002qvu.2_RNA|SH3YL1_uc002qvv.2_Missense_Mutation_p.T25A|SH3YL1_uc002qvw.2_RNA	NM_015677	NP_056492	Q96HL8	SH3Y1_HUMAN	SH3 domain containing, Ysc84-like 1 isoform 1	121										ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		CCTCCGAGGGTCAGATTTCCG	0.398												
TMEM18	129787	broad.mit.edu	37	2	669841	669841	+	Silent	SNP	C	C	T	rs145340899		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:669841C>T	uc002qwl.2	-	4	337	c.243G>A	c.(241-243)TCG>TCA	p.S81S	TMEM18_uc002qwk.2_RNA	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	transmembrane protein 18	81					cell migration	integral to membrane|nuclear membrane				ovary(1)	1	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		ACTGGTATTTCGAAAATAATC	0.368												
TPO	7173	broad.mit.edu	37	2	1491615	1491615	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:1491615A>G	uc002qww.2	+	10	1711	c.1620A>G	c.(1618-1620)CGA>CGG	p.R540R	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Intron|TPO_uc002qwr.2_Silent_p.R540R|TPO_uc002qwx.2_Intron|TPO_uc010yio.1_Silent_p.R367R|TPO_uc010yip.1_Silent_p.R540R|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	540	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1)	20	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CACTAATACGAGGCCTTCTTG	0.473												
ITGB1BP1	9270	broad.mit.edu	37	2	9547005	9547005	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:9547005T>C	uc002qzj.2	-	7	738	c.561A>G	c.(559-561)TTA>TTG	p.L187L	ITGB1BP1_uc002qzk.2_Silent_p.L137L|ITGB1BP1_uc002qzl.2_RNA|ITGB1BP1_uc002qzm.2_RNA|ITGB1BP1_uc010yiy.1_Silent_p.L143L|ITGB1BP1_uc002qzn.1_3'UTR	NM_004763	NP_004754	O14713	ITBP1_HUMAN	integrin cytoplasmic domain-associated protein 1	187	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding|protein binding				0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		AAGCGGTGGATAAAACCTTGC	0.388												
GREB1	9687	broad.mit.edu	37	2	11706632	11706632	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:11706632C>T	uc002rbk.1	+	4	604	c.304C>T	c.(304-306)CGC>TGC	p.R102C	GREB1_uc002rbl.2_Missense_Mutation_p.R102C|GREB1_uc002rbm.2_5'UTR|GREB1_uc002rbn.1_Missense_Mutation_p.R102C	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	102						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GAAGGACCTGCGCCTTGTCTC	0.647												
GREB1	9687	broad.mit.edu	37	2	11733023	11733023	+	Silent	SNP	G	G	A	rs148777088	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:11733023G>A	uc002rbk.1	+	11	1767	c.1467G>A	c.(1465-1467)GCG>GCA	p.A489A	GREB1_uc002rbo.1_Silent_p.A123A	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	489						integral to membrane				ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCCGCCCGCGCCCAGCGCCG	0.711												
NTSR2	23620	broad.mit.edu	37	2	11802192	11802192	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:11802192C>T	uc002rbq.3	-	2	873	c.799G>A	c.(799-801)GTA>ATA	p.V267I		NM_012344	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	267	Cytoplasmic (Potential).				sensory perception	integral to plasma membrane					0	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TTCTTCCATACGATGAAGCTG	0.632												
DNAJC27	51277	broad.mit.edu	37	2	25180758	25180758	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:25180758G>A	uc002rft.1	-	4	377	c.326C>T	c.(325-327)GCG>GTG	p.A109V	DNAJC27_uc010ykn.1_Missense_Mutation_p.A38V|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Missense_Mutation_p.A109V	NM_016544	NP_057628	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	109					protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding			skin(1)	1						TGCCAGCCACGCATCAAGGGC	0.433												
KHK	3795	broad.mit.edu	37	2	27322109	27322109	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:27322109G>A	uc002ril.2	+	6	1127	c.610G>A	c.(610-612)GCA>ACA	p.A204T	KHK_uc002rim.2_Missense_Mutation_p.A204T|KHK_uc002rin.2_Missense_Mutation_p.A205T|KHK_uc002rio.2_Missense_Mutation_p.A120T|CGREF1_uc010ylf.1_3'UTR|CGREF1_uc002rip.1_3'UTR	NM_000221	NP_000212	P50053	KHK_HUMAN	ketohexokinase isoform a	204					fructose catabolic process	cytosol	ATP binding|ketohexokinase activity|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTCCAGTCAGCAGAGGAAGC	0.547												
FOSL2	2355	broad.mit.edu	37	2	28627104	28627104	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:28627104G>A	uc002rma.2	+	2	1042	c.233G>A	c.(232-234)CGC>CAC	p.R78H	FOSL2_uc010ymi.1_Missense_Mutation_p.R39H	NM_005253	NP_005244	P15408	FOSL2_HUMAN	FOS-like antigen 2	78					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|breast(1)	3	Acute lymphoblastic leukemia(172;0.155)					CCATACCCTCGCTCGCACCCC	0.632												
YIPF4	84272	broad.mit.edu	37	2	32517418	32517418	+	Splice_Site	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:32517418G>A	uc002rok.2	+	3	672	c.405_splice	c.e3+1	p.R135_splice		NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4							endoplasmic reticulum|integral to membrane	protein binding				0	Acute lymphoblastic leukemia(172;0.155)					ACAGTTTAGGGTAAGTATATC	0.279												
LTBP1	4052	broad.mit.edu	37	2	33487839	33487839	+	Silent	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:33487839C>A	uc002ros.2	+	14	2469	c.2469C>A	c.(2467-2469)CCC>CCA	p.P823P	LTBP1_uc002rot.2_Silent_p.P497P|LTBP1_uc002rou.2_Silent_p.P497P|LTBP1_uc002rov.2_Silent_p.P444P|LTBP1_uc010ymz.1_Silent_p.P497P|LTBP1_uc010yna.1_Silent_p.P444P	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	823					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGGTCAACCCCAGCTGTCTC	0.383												
HEATR5B	54497	broad.mit.edu	37	2	37310522	37310522	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:37310522T>C	uc002rpp.1	-	2	132	c.36A>G	c.(34-36)GAA>GAG	p.E12E	CCDC75_uc010ezz.2_5'Flank|CCDC75_uc002rpr.3_5'Flank	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	12							binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)				GAGCCAAAGCTTCTTCATTTA	0.338												
THUMPD2	80745	broad.mit.edu	37	2	39988502	39988502	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:39988502G>A	uc002rru.2	-	6	897	c.860C>T	c.(859-861)GCG>GTG	p.A287V	THUMPD2_uc002rrv.2_RNA|THUMPD2_uc010ynt.1_Missense_Mutation_p.A178V|THUMPD2_uc010ynu.1_3'UTR	NM_025264	NP_079540	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	287							methyltransferase activity			skin(1)	1		all_hematologic(82;0.248)				CATTGCCCACGCTATTGTAGA	0.373												
SLC8A1	6546	broad.mit.edu	37	2	40656816	40656816	+	Missense_Mutation	SNP	C	C	T	rs150791349		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:40656816C>T	uc002rrx.2	-	1	629	c.605G>A	c.(604-606)CGT>CAT	p.R202H	SLC8A1_uc002rry.2_Missense_Mutation_p.R202H|SLC8A1_uc002rrz.2_Missense_Mutation_p.R202H|SLC8A1_uc002rsa.2_Missense_Mutation_p.R202H|SLC8A1_uc002rsd.3_Missense_Mutation_p.R202H|SLC8A1_uc002rsb.1_Missense_Mutation_p.R202H|SLC8A1_uc010fan.1_Missense_Mutation_p.R202H|SLC8A1_uc002rsc.1_Missense_Mutation_p.R202H	NM_021097	NP_066920	P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium	202	Cytoplasmic (Potential).				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAAGAAGACACGCAAATGCTT	0.458												
EML4	27436	broad.mit.edu	37	2	42490379	42490379	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:42490379C>T	uc002rsi.2	+	5	836	c.574C>T	c.(574-576)CGT>TGT	p.R192C	EML4_uc010fap.2_Missense_Mutation_p.R134C	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	192					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250						AGATGATAGCCGTAATAAATT	0.323			T	ALK	NSCLC							
SRBD1	55133	broad.mit.edu	37	2	45826872	45826872	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:45826872C>T	uc002rus.2	-	4	440	c.364G>A	c.(364-366)GCG>ACG	p.A122T		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	122					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			central_nervous_system(1)	1		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TGTGGCTGCGCTGCACATTTC	0.413												
PRKCE	5581	broad.mit.edu	37	2	46378289	46378289	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:46378289A>G	uc002rut.2	+	13	2038	c.1841A>G	c.(1840-1842)GAC>GGC	p.D614G		NM_005400	NP_005391	Q02156	KPCE_HUMAN	protein kinase C, epsilon	614	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity			lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1)	10		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			AATGAGGACGACCTATTTGAG	0.587												
FOXN2	3344	broad.mit.edu	37	2	48602066	48602066	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:48602066G>T	uc002rwh.1	+	7	1095	c.780G>T	c.(778-780)AAG>AAT	p.K260N		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	260					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CAGGTGAGAAGCCTCTTCCTC	0.373												
ASB3	51130	broad.mit.edu	37	2	53927512	53927512	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:53927512A>G	uc002rxg.1	-	8	1269	c.1134T>C	c.(1132-1134)TAT>TAC	p.Y378Y	ASB3_uc002rxh.1_Silent_p.Y305Y|ASB3_uc002rxi.3_Silent_p.Y416Y|ASB3_uc002rxf.1_RNA	NM_016115	NP_057199	Q9Y575	ASB3_HUMAN	ankyrin repeat and SOCS box-containing protein 3	378					intracellular signal transduction					ovary(1)|kidney(1)	2			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTACAAATTCATATATATGGT	0.383												
MTIF2	4528	broad.mit.edu	37	2	55467153	55467153	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:55467153G>T	uc002ryn.2	-	15	2601	c.1864C>A	c.(1864-1866)CCA>ACA	p.P622T	MTIF2_uc010yox.1_Missense_Mutation_p.P291T|MTIF2_uc002ryo.2_Missense_Mutation_p.P622T	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	622					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						TCACCTACTGGGTGCTCTTCC	0.353												
MTIF2	4528	broad.mit.edu	37	2	55470699	55470699	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:55470699C>T	uc002ryn.2	-	13	2154	c.1417G>A	c.(1417-1419)GCA>ACA	p.A473T	MTIF2_uc010yox.1_Missense_Mutation_p.A142T|MTIF2_uc002ryo.2_Missense_Mutation_p.A473T	NM_001005369	NP_001005369	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	473					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			ovary(1)	1						TTCTGATGTGCTTCTTTGTGT	0.398												
BMP10	27302	broad.mit.edu	37	2	69092787	69092787	+	Silent	SNP	G	G	A	rs146375788		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:69092787G>A	uc002sez.1	-	2	1410	c.1251C>T	c.(1249-1251)GCC>GCT	p.A417A		NM_014482	NP_055297	O95393	BMP10_HUMAN	bone morphogenetic protein 10 preproprotein	417					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			ovary(2)	2						ATTCGGAGACGGCCATGCCTT	0.403												
ALMS1	7840	broad.mit.edu	37	2	73675218	73675218	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:73675218G>A	uc002sje.1	+	9	1675	c.1564G>A	c.(1564-1566)GCT>ACT	p.A522T	ALMS1_uc002sjf.1_Missense_Mutation_p.A479T|ALMS1_uc002sjg.2_5'UTR|ALMS1_uc002sjh.1_5'UTR	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	521					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						GTCTCAGTTGGCTGTAAGTTC	0.418												
MOGS	7841	broad.mit.edu	37	2	74689115	74689115	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:74689115G>A	uc010ffj.2	-	4	1964	c.1801C>T	c.(1801-1803)CGA>TGA	p.R601*	MOGS_uc010ffh.2_Nonsense_Mutation_p.R326*|MOGS_uc010yrt.1_Nonsense_Mutation_p.R482*|MOGS_uc010ffi.2_Nonsense_Mutation_p.R495*	NM_006302	NP_006293	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase isoform 1	601	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity				0						ACCCAACATCGCAGGTCCAGG	0.632												
TLX2	3196	broad.mit.edu	37	2	74742968	74742968	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:74742968G>A	uc002smb.1	+	2	932	c.609G>A	c.(607-609)ACG>ACA	p.T203T	TLX2_uc002sma.1_Missense_Mutation_p.V74M	NM_016170	NP_057254	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	203	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0						AGGTCAAAACGTGGTTCCAGA	0.701												
C2orf3	6936	broad.mit.edu	37	2	75929496	75929496	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:75929496C>T	uc002sno.2	-	3	578	c.448G>A	c.(448-450)GCC>ACC	p.A150T	C2orf3_uc010ffs.2_5'Flank|C2orf3_uc002snn.2_5'UTR|C2orf3_uc010fft.2_5'UTR|C2orf3_uc002snp.3_Missense_Mutation_p.A150T	NM_003203	NP_003194	P16383	GCF_HUMAN	hypothetical protein LOC6936	150					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2						TGGGCCCTGGCCAATTCACGT	0.453												
GNLY	10578	broad.mit.edu	37	2	85924730	85924730	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:85924730C>T	uc002sql.3	+	4	485	c.357C>T	c.(355-357)ACC>ACT	p.T119T	GNLY_uc010fgp.2_Silent_p.T104T|GNLY_uc010ysx.1_Silent_p.T146T	NM_006433	NP_006424	P22749	GNLY_HUMAN	granulysin isoform NKG5	119	Saposin B-type.				cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space					0						CTAGAGTTACCCAGGGCCTCG	0.557												
REV1	51455	broad.mit.edu	37	2	100079006	100079006	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:100079006A>G	uc002tad.2	-	3	345	c.133T>C	c.(133-135)TCA>CCA	p.S45P	REV1_uc002tac.2_Missense_Mutation_p.S45P|REV1_uc002tae.1_Missense_Mutation_p.S24P	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	REV1-like isoform 1	45	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			ovary(2)	2						ATTGTAGATGAAGTCCCATCC	0.378								DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage				
MALL	7851	broad.mit.edu	37	2	110849314	110849314	+	Missense_Mutation	SNP	C	C	T	rs141817647		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:110849314C>T	uc002tfk.2	-	2	913	c.139G>A	c.(139-141)GCC>ACC	p.A47T	MALL_uc010fju.2_Intron	NM_005434	NP_005425	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	47	MARVEL.				cholesterol homeostasis	clathrin-coated vesicle|Golgi membrane|integral to membrane|membrane raft|plasma membrane	protein binding			ovary(1)|skin(1)	2				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		ATGTGGGTGGCGGCTACCATG	0.468												
FBLN7	129804	broad.mit.edu	37	2	112940452	112940452	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:112940452G>A	uc002tho.1	+	6	1026	c.755G>A	c.(754-756)CGT>CAT	p.R252H	FBLN7_uc002thn.2_Missense_Mutation_p.R252H|FBLN7_uc010fki.1_Missense_Mutation_p.R206H|FBLN7_uc010fkj.1_Intron	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	fibulin 7 isoform 1	252	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			ovary(1)|central_nervous_system(1)	2						GGCTCTTACCGTTGCACCTGC	0.642												
RGPD5	84220	broad.mit.edu	37	2	113147664	113147664	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:113147664C>T	uc002ths.1	-	20	2935	c.2858G>A	c.(2857-2859)GGC>GAC	p.G953D	RGPD8_uc010fkk.1_Missense_Mutation_p.G813D|RGPD5_uc002tht.1_Missense_Mutation_p.G204D	NM_005054	NP_005045	Q99666	RGPD5_HUMAN	RANBP2-like and GRIP domain containing 5 isoform	953					intracellular transport	cytoplasm	binding				0						CTTCTTCCGGCCCCTAATATC	0.418												
INSIG2	51141	broad.mit.edu	37	2	118854319	118854319	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:118854319A>T	uc002tlk.2	+	2	393	c.187A>T	c.(187-189)ATT>TTT	p.I63F	INSIG2_uc010yye.1_Intron	NM_016133	NP_057217	Q9Y5U4	INSI2_HUMAN	insulin induced protein 2	63					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				ovary(1)|central_nervous_system(1)	2						ACCTGATGTGATTGCAAGCAT	0.413												
RALB	5899	broad.mit.edu	37	2	121036293	121036293	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:121036293T>C	uc002tmk.2	+	2	243	c.53T>C	c.(52-54)ATC>ACC	p.I18T	RALB_uc010yys.1_Missense_Mutation_p.I40T|RALB_uc002tml.2_Missense_Mutation_p.I18T|RALB_uc002tmm.2_Intron|RALB_uc010yyt.1_RNA	NM_002881	NP_002872	P11234	RALB_HUMAN	v-ral simian leukemia viral oncogene homolog B	18					apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding			lung(3)	3		Prostate(154;0.122)				CACAAGGTGATCATGGTTGGC	0.562												
AMMECR1L	83607	broad.mit.edu	37	2	128631753	128631753	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:128631753C>T	uc002tpl.2	-	3	307	c.56G>A	c.(55-57)TGT>TAT	p.C19Y	AMMECR1L_uc002tpm.2_Missense_Mutation_p.C19Y	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	AMME chromosomal region gene 1-like	19										central_nervous_system(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CTTGACCCCACAACAGCCTGC	0.522												
TUBA3E	112714	broad.mit.edu	37	2	130951399	130951399	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:130951399C>T	uc002tqv.2	-	4	1117	c.1016G>A	c.(1015-1017)CGC>CAC	p.R339H		NM_207312	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	339					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			skin(1)	1	Colorectal(110;0.1)					CTGGATAGTGCGCTTGGTCTT	0.547												
NCKAP5	344148	broad.mit.edu	37	2	133540780	133540780	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:133540780T>C	uc002ttp.2	-	14	3978	c.3604A>G	c.(3604-3606)ACA>GCA	p.T1202A	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1202							protein binding				0						TCACCCGCTGTGATCTCCATG	0.478												
NCKAP5	344148	broad.mit.edu	37	2	133541060	133541060	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:133541060A>G	uc002ttp.2	-	14	3698	c.3324T>C	c.(3322-3324)AAT>AAC	p.N1108N	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1108	Ser-rich.						protein binding				0						ATGGTGACTCATTTACCCCTA	0.493												
NCKAP5	344148	broad.mit.edu	37	2	133542959	133542959	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:133542959G>A	uc002ttp.2	-	14	1799	c.1425C>T	c.(1423-1425)CAC>CAT	p.H475H	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	475							protein binding				0						CCGCATCAACGTGGGAATCTA	0.517												
R3HDM1	23518	broad.mit.edu	37	2	136399316	136399316	+	Missense_Mutation	SNP	C	C	T	rs147536237		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:136399316C>T	uc002tuo.2	+	15	1800	c.1430C>T	c.(1429-1431)GCG>GTG	p.A477V	R3HDM1_uc010fni.2_Missense_Mutation_p.A475V|R3HDM1_uc002tup.2_Missense_Mutation_p.A421V|R3HDM1_uc010zbh.1_Intron	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	R3H domain containing 1	477							nucleic acid binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCCTTGGAAGCGGCAGGCATA	0.433												
LRP1B	53353	broad.mit.edu	37	2	141232708	141232708	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:141232708T>G	uc002tvj.1	-	60	10596	c.9624A>C	c.(9622-9624)AAA>AAC	p.K3208N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	3208	Extracellular (Potential).|LDL-receptor class B 31.				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)		TGGACCAACCTTTGTGTCTAT	0.294										TSP Lung(27;0.18)		
ACVR2A	92	broad.mit.edu	37	2	148684693	148684693	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:148684693C>T	uc002twg.2	+	12	1661	c.1392C>T	c.(1390-1392)CAC>CAT	p.H464H	ACVR2A_uc010zbn.1_Silent_p.H356H|ACVR2A_uc002twh.2_Silent_p.H464H	NM_001616	NP_001607	P27037	AVR2A_HUMAN	activin A receptor, type IIA precursor	464	Cytoplasmic (Potential).|Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GTTGGGATCACGACGCAGAAG	0.408												
MBD5	55777	broad.mit.edu	37	2	149216410	149216410	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:149216410G>A	uc002twm.3	+	6	1071	c.83G>A	c.(82-84)CGT>CAT	p.R28H	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.R28H	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	28	MBD.					chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGGCAGCGTCGTGTGGATCAA	0.468												
EVX2	344191	broad.mit.edu	37	2	176948411	176948411	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:176948411C>T	uc010zeu.1	-	1	280	c.94G>A	c.(94-96)GCT>ACT	p.A32T		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	even-skipped homeobox 2	32						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCATTGCCAGCCGAGTTGGAC	0.577												
HOXD3	3232	broad.mit.edu	37	2	177036309	177036309	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:177036309G>A	uc002ukt.1	+	3	782	c.606G>A	c.(604-606)ACG>ACA	p.T202T		NM_006898	NP_008829	P31249	HXD3_HUMAN	homeobox D3	202	Homeobox.				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		CGGCATACACGAGCGCGCAGC	0.637												
TTN	7273	broad.mit.edu	37	2	179419291	179419291	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:179419291T>C	uc010zfg.1	-	281	81303	c.81079A>G	c.(81079-81081)ACC>GCC	p.T27027A	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T20722A|TTN_uc010zfi.1_Missense_Mutation_p.T20655A|TTN_uc010zfj.1_Missense_Mutation_p.T20530A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	27954							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)			ATTTTGGTGGTTGTAATGATG	0.448												
TTN	7273	broad.mit.edu	37	2	179458930	179458930	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:179458930G>A	uc010zfg.1	-	246	50710	c.50486C>T	c.(50485-50487)ACG>ATG	p.T16829M	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T10524M|TTN_uc010zfi.1_Missense_Mutation_p.T10457M|TTN_uc010zfj.1_Missense_Mutation_p.T10332M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17756							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)			AACTCGAATCGTGAGCTTATC	0.413												
TTN	7273	broad.mit.edu	37	2	179466064	179466064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:179466064G>A	uc010zfg.1	-	236	48180	c.47956C>T	c.(47956-47958)CGA>TGA	p.R15986*	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R9681*|TTN_uc010zfi.1_Nonsense_Mutation_p.R9614*|TTN_uc010zfj.1_Nonsense_Mutation_p.R9489*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16913							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)			TTTTCTGCTCGCACACGGAAG	0.428												
TTN	7273	broad.mit.edu	37	2	179500810	179500810	+	Missense_Mutation	SNP	C	C	T	rs149059189	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:179500810C>T	uc010zfg.1	-	175	34008	c.33784G>A	c.(33784-33786)GTC>ATC	p.V11262I	TTN_uc010zfh.1_Missense_Mutation_p.V4957I|TTN_uc010zfi.1_Missense_Mutation_p.V4890I|TTN_uc010zfj.1_Missense_Mutation_p.V4765I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12189							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)			AAGCCAATGACGCCTGGCACA	0.512												
TTN	7273	broad.mit.edu	37	2	179585805	179585805	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:179585805G>A	uc010zfg.1	-	76	19433	c.19209C>T	c.(19207-19209)AGC>AGT	p.S6403S	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S3064S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7330							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)			CATGAAGTTCGCTGTCATTTC	0.398												
TTN	7273	broad.mit.edu	37	2	179586853	179586853	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:179586853T>C	uc010zfg.1	-	75	19029	c.18805A>G	c.(18805-18807)AAA>GAA	p.K6269E	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.K2930E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	7196							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)			AAGGGAGATTTCTTGGGTTCT	0.388												
NAB1	4664	broad.mit.edu	37	2	191554976	191554976	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:191554976C>A	uc002usb.2	+	10	1953	c.1381C>A	c.(1381-1383)CTT>ATT	p.L461I	NAB1_uc010fsc.2_Missense_Mutation_p.L461I|NAB1_uc010fsd.2_Missense_Mutation_p.L460I|NAB1_uc002usc.2_Missense_Mutation_p.L460I|NAB1_uc010zgh.1_Missense_Mutation_p.L431I	NM_005966	NP_005957	Q13506	NAB1_HUMAN	NGFI-A binding protein 1	461					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			TGTAGAGAGCCTTGGGATTTT	0.338												
SDPR	8436	broad.mit.edu	37	2	192700903	192700903	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:192700903G>A	uc002utb.2	-	2	1354	c.1024C>T	c.(1024-1026)CTC>TTC	p.L342F		NM_004657	NP_004648	O95810	SDPR_HUMAN	serum deprivation response protein	342						caveola|cytosol	phosphatidylserine binding|protein binding			ovary(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCGCTGGCGAGGGACGCTTCG	0.562												
PLCL1	5334	broad.mit.edu	37	2	198949135	198949135	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:198949135G>A	uc010fsp.2	+	2	1185	c.894G>A	c.(892-894)GTG>GTA	p.V298V	PLCL1_uc002uuv.3_Silent_p.V219V	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;	298					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			ovary(1)|skin(1)	2					Quinacrine(DB01103)	CCACCCGCGTGACCGAAGAGG	0.373												
CASP8	841	broad.mit.edu	37	2	202131490	202131490	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:202131490G>A	uc002uxr.1	+	3	490	c.281G>A	c.(280-282)GGC>GAC	p.G94D	CASP8_uc010ftc.1_Missense_Mutation_p.G94D|CASP8_uc002uxo.1_Missense_Mutation_p.G94D|CASP8_uc002uxp.1_Missense_Mutation_p.G94D|CASP8_uc002uxq.1_Missense_Mutation_p.G94D|CASP8_uc002uxs.1_Missense_Mutation_p.G94D|CASP8_uc002uxt.1_Missense_Mutation_p.G153D|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.G94D|CASP8_uc002uxw.1_Missense_Mutation_p.G94D|CASP8_uc002uxy.1_Missense_Mutation_p.G94D|CASP8_uc002uxx.1_Missense_Mutation_p.G94D|CASP8_uc010ftf.2_Missense_Mutation_p.G94D	NM_033355	NP_203519	Q14790	CASP8_HUMAN	caspase 8 isoform B precursor	94					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding			upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						CAGACACCAGGCAGGGCTCAA	0.488										HNSCC(4;0.00038)		
RAPH1	65059	broad.mit.edu	37	2	204320201	204320201	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:204320201G>A	uc002vad.2	-	9	1486	c.1261C>T	c.(1261-1263)CGA>TGA	p.R421*	RAPH1_uc002vae.2_Nonsense_Mutation_p.R473*|RAPH1_uc002vaf.2_Nonsense_Mutation_p.R473*	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Ras association and pleckstrin homology domains	421	PH.				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						CCAGATGCTCGCAAGAGAAAA	0.383												
ERBB4	2066	broad.mit.edu	37	2	212530068	212530068	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:212530068G>A	uc002veg.1	-	15	1949	c.1851C>T	c.(1849-1851)TGC>TGT	p.C617C	ERBB4_uc002veh.1_Silent_p.C617C|ERBB4_uc010zji.1_Silent_p.C617C|ERBB4_uc010zjj.1_Silent_p.C617C|ERBB4_uc010fut.1_Silent_p.C617C	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	v-erb-a erythroblastic leukemia viral oncogene	617	Extracellular (Potential).|Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		AGTTTGGATGGCATGGGTGGC	0.478										TSP Lung(8;0.080)		
ABCA12	26154	broad.mit.edu	37	2	215855743	215855743	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:215855743T>C	uc002vew.2	-	24	3527	c.3307A>G	c.(3307-3309)ATG>GTG	p.M1103V	ABCA12_uc002vev.2_Missense_Mutation_p.M785V|ABCA12_uc010zjn.1_Missense_Mutation_p.M30V	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A, member 12	1103					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCACACCCATCATCTTCATG	0.368												
IGFBP5	3488	broad.mit.edu	37	2	217542917	217542917	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:217542917T>G	uc002vgj.3	-	3	1379	c.605A>C	c.(604-606)GAG>GCG	p.E202A		NM_000599	NP_000590	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	202	Thyroglobulin type-1.				negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding				0		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTTTGAGCTCCTGCAGGGA	0.617												
TNS1	7145	broad.mit.edu	37	2	218712867	218712867	+	Silent	SNP	C	C	T	rs149540382	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:218712867C>T	uc002vgt.2	-	17	2396	c.1998G>A	c.(1996-1998)CAG>CAA	p.Q666Q	TNS1_uc002vgr.2_Silent_p.Q666Q|TNS1_uc002vgs.2_Silent_p.Q666Q|TNS1_uc010zjv.1_Silent_p.Q666Q|TNS1_uc010fvj.1_Silent_p.Q734Q|TNS1_uc010fvk.1_Silent_p.Q791Q|TNS1_uc010fvi.1_Silent_p.Q353Q	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	666	Gln-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTCTTTCCTGCTGGCGTGGAG	0.557												
TNS1	7145	broad.mit.edu	37	2	218713028	218713028	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:218713028G>T	uc002vgt.2	-	17	2235	c.1837C>A	c.(1837-1839)CCC>ACC	p.P613T	TNS1_uc002vgr.2_Missense_Mutation_p.P613T|TNS1_uc002vgs.2_Missense_Mutation_p.P613T|TNS1_uc010zjv.1_Missense_Mutation_p.P613T|TNS1_uc010fvj.1_Missense_Mutation_p.P681T|TNS1_uc010fvk.1_Missense_Mutation_p.P738T|TNS1_uc010fvi.1_Missense_Mutation_p.P300T	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	613						cytoplasm|cytoskeleton|focal adhesion	actin binding			ovary(3)|breast(1)	4		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		ATACCGCTGGGGTCATGGGCA	0.652												
CXCR1	3577	broad.mit.edu	37	2	219029293	219029293	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:219029293C>T	uc002vhc.2	-	2	761	c.642G>A	c.(640-642)CCG>CCA	p.P214P		NM_000634	NP_000625	P25024	CXCR1_HUMAN	interleukin 8 receptor alpha	214	Helical; Name=5; (Potential).				dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			lung(2)	2						TGACAAACAGCGGCACGATGA	0.527												
USP37	57695	broad.mit.edu	37	2	219339558	219339558	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:219339558T>C	uc002vie.2	-	20	2547	c.2094A>G	c.(2092-2094)TCA>TCG	p.S698S	USP37_uc010fvs.1_Silent_p.S698S|USP37_uc010zkf.1_Silent_p.S698S|USP37_uc002vif.2_Silent_p.S698S|USP37_uc002vig.2_Silent_p.S604S	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	698					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			skin(3)|ovary(1)|prostate(1)	5		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TGTCAAATCCTGAGTTTTCCA	0.388												
SPEG	10290	broad.mit.edu	37	2	220349218	220349218	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:220349218C>A	uc010fwg.2	+	30	7033	c.7033C>A	c.(7033-7035)CTG>ATG	p.L2345M		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	2345	Arg-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(9)|ovary(4)|central_nervous_system(1)	14		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGAGTCGCCCCTGTCGCTGGG	0.697												
OBSL1	23363	broad.mit.edu	37	2	220419260	220419260	+	Silent	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:220419260G>T	uc010fwk.2	-	15	4869	c.4812C>A	c.(4810-4812)GCC>GCA	p.A1604A		NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	1604					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGCCTGAGTCGGCCAGGCCCA	0.632												
SLC4A3	6508	broad.mit.edu	37	2	220504357	220504357	+	Silent	SNP	G	G	A	rs138004203		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:220504357G>A	uc002vmp.3	+	20	3446	c.3177G>A	c.(3175-3177)GCG>GCA	p.A1059A	SLC4A3_uc002vmo.3_Silent_p.A1086A|SLC4A3_uc010fwm.2_Silent_p.A609A	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	1059	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGTCAATGCGTTGACAGTGA	0.652												
EPHA4	2043	broad.mit.edu	37	2	222365753	222365753	+	Silent	SNP	G	G	T	rs145141867	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:222365753G>T	uc002vmq.2	-	4	1005	c.963C>A	c.(961-963)GCC>GCA	p.A321A	EPHA4_uc002vmr.2_Silent_p.A321A|EPHA4_uc010zlm.1_Silent_p.A262A|EPHA4_uc010zln.1_Silent_p.A321A	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	321	Cys-rich.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		AGGGCATAGAGGCAGCATCGT	0.557												
TRIP12	9320	broad.mit.edu	37	2	230654380	230654380	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:230654380G>T	uc002vpw.1	-	30	4526	c.4417C>A	c.(4417-4419)CTT>ATT	p.L1473I	TRIP12_uc002vpx.1_Missense_Mutation_p.L1521I|TRIP12_uc002vpy.1_Missense_Mutation_p.L1203I	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1473					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTTAAAAGAAGGATCACATCT	0.363												
CHRND	1144	broad.mit.edu	37	2	233393579	233393579	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:233393579A>G	uc002vsw.2	+	6	521	c.517A>G	c.(517-519)AAG>GAG	p.K173E	CHRND_uc010zmg.1_Missense_Mutation_p.K158E|CHRND_uc010fyc.2_Intron|CHRND_uc010zmh.1_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	nicotinic acetylcholine receptor delta	173	Extracellular (Potential).				muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			ovary(1)|breast(1)|skin(1)	3		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CAGTTCCCTCAAGTATACGGC	0.587												
UGT1A5	54579	broad.mit.edu	37	2	234622039	234622039	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:234622039T>C	uc002vuw.2	+	1	402	c.402T>C	c.(400-402)AAT>AAC	p.N134N	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.N134N	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	134					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		TACTGCATAATGAGGCCCTGA	0.443												
UGT1A5	54579	broad.mit.edu	37	2	234681161	234681161	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:234681161A>G	uc002vuw.2	+	5	1561	c.1561A>G	c.(1561-1563)AAA>GAA	p.K521E	UGT1A8_uc002vup.2_Missense_Mutation_p.K517E|UGT1A10_uc002vur.2_Missense_Mutation_p.K517E|UGT1A9_uc002vus.2_Missense_Mutation_p.K517E|UGT1A7_uc002vut.2_Missense_Mutation_p.K517E|UGT1A6_uc002vuu.2_Missense_Mutation_p.K252E|UGT1A6_uc002vuv.3_Missense_Mutation_p.K519E|UGT1A4_uc002vux.2_Missense_Mutation_p.K521E|UGT1A3_uc002vuy.2_Missense_Mutation_p.K521E|UGT1A9_uc002vva.2_RNA|UGT1A1_uc002vvb.2_Missense_Mutation_p.K520E	NM_019078	NP_061951	P35504	UD15_HUMAN	UDP glycosyltransferase 1 family, polypeptide A5	521					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		ATGCTTGGGGAAAAAAGGGCG	0.453												
GBX2	2637	broad.mit.edu	37	2	237074893	237074893	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:237074893G>A	uc002vvw.1	-	2	749	c.711C>T	c.(709-711)GCC>GCT	p.A237A	GBX2_uc010zng.1_3'UTR	NM_001485	NP_001476	P52951	GBX2_HUMAN	gastrulation brain homeo box 2	237				QAAHKEEDPGHALEETPPSSGA -> PGSSQGGRPGPRGGG DPAEQRR (in Ref. 6).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		TGCTGCCCGCGGCGCCGCTGC	0.647												
IQCA1	79781	broad.mit.edu	37	2	237246962	237246962	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:237246962G>A	uc002vvz.1	-	17	2202	c.2020C>T	c.(2020-2022)CGG>TGG	p.R674W	IQCA1_uc002vwb.2_Missense_Mutation_p.R682W|IQCA1_uc002vwa.1_RNA|IQCA1_uc010zni.1_Missense_Mutation_p.R633W	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	674							ATP binding			ovary(1)	1						ATCAGAATCCGGTCATCTGGT	0.438												
ANKMY1	51281	broad.mit.edu	37	2	241439490	241439490	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:241439490G>A	uc002vyz.1	-	14	2653	c.2424C>T	c.(2422-2424)CGC>CGT	p.R808R	ANKMY1_uc002vza.1_Silent_p.R584R|ANKMY1_uc010fzd.1_Silent_p.R897R|ANKMY1_uc002vzb.1_Silent_p.R569R|ANKMY1_uc002vzc.1_Silent_p.R587R|ANKMY1_uc002vzd.1_Silent_p.R631R	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	808							zinc ion binding			central_nervous_system(1)	1		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGAACGTCTCGCGCTCTGCTG	0.677												
AGXT	189	broad.mit.edu	37	2	241808357	241808357	+	Silent	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:241808357G>T	uc002waa.3	+	1	196	c.75G>T	c.(73-75)CTG>CTT	p.L25L	AGXT_uc010zoi.1_Silent_p.L25L	NM_000030	NP_000021	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	25					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity				0		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACCAGCTCCTGCTGGGGCCTG	0.652												
SIRPG	55423	broad.mit.edu	37	20	1615967	1615967	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:1615967G>T	uc002wfm.1	-	4	1092	c.1027C>A	c.(1027-1029)CTT>ATT	p.L343I	SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma isoform 1	343	Extracellular (Potential).				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			ovary(1)	1						TCTAGGGCAAGGCGTTTGCTG	0.493												
ADAM33	80332	broad.mit.edu	37	20	3652954	3652954	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:3652954C>T	uc002wit.2	-	14	1511	c.1424G>A	c.(1423-1425)TGC>TAC	p.C475Y	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.C475Y|ADAM33_uc002wis.2_5'UTR|ADAM33_uc002wiu.2_Missense_Mutation_p.C475Y|uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33 isoform alpha	475	Extracellular (Potential).|Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4						GGCCTGGCGGCACAGCGCTCC	0.667												
SNAP25	6616	broad.mit.edu	37	20	10280034	10280034	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:10280034C>T	uc002wnq.1	+	7	738	c.526C>T	c.(526-528)CGC>TGC	p.R176C	SNAP25_uc002wnr.1_Missense_Mutation_p.R176C|SNAP25_uc002wns.1_Missense_Mutation_p.R113C|SNAP25_uc010gca.1_Missense_Mutation_p.R176C|SNAP25_uc010gcb.1_Missense_Mutation_p.R113C|SNAP25_uc010gcc.1_Missense_Mutation_p.R70C	NM_130811	NP_570824	P60880	SNP25_HUMAN	synaptosomal-associated protein 25 isoform	176	t-SNARE coiled-coil homology 2.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				skin(2)	2					Botulinum Toxin Type A(DB00083)	TACACAGAATCGCCAGATCGA	0.507												
XRN2	22803	broad.mit.edu	37	20	21328891	21328891	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:21328891G>A	uc002wsf.1	+	18	1868	c.1773G>A	c.(1771-1773)CCG>CCA	p.P591P	XRN2_uc002wsg.1_Silent_p.P515P|XRN2_uc010zsk.1_Silent_p.P537P	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	591					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			skin(1)	1						GTACGAAACCGGTAAGCTTAA	0.338												
NKX2-2	4821	broad.mit.edu	37	20	21494212	21494212	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:21494212C>T	uc002wsi.2	-	1	453	c.96G>A	c.(94-96)CCG>CCA	p.P32P		NM_002509	NP_002500	O95096	NKX22_HUMAN	NK2 transcription factor related, locus 2	32					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			pancreas(1)|skin(1)	2						TCTCTTCCTCCGGACCTTCGG	0.647												
ZNF341	84905	broad.mit.edu	37	20	32349702	32349702	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:32349702T>C	uc002wzy.2	+	8	1083	c.1063T>C	c.(1063-1065)TGT>CGT	p.C355R	ZNF341_uc002wzx.2_Missense_Mutation_p.C348R|ZNF341_uc010geq.2_Missense_Mutation_p.C265R|ZNF341_uc010ger.2_RNA	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	355	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GTGCATTGCATGTGGCCGTGC	0.582												
NCOA6	23054	broad.mit.edu	37	20	33345657	33345657	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:33345657C>T	uc002xav.2	-	8	3465	c.894G>A	c.(892-894)CAG>CAA	p.Q298Q	NCOA6_uc002xaw.2_Silent_p.Q298Q|NCOA6_uc010gew.1_Silent_p.Q255Q	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	298	TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			ovary(3)|breast(3)|central_nervous_system(1)	7						TTCCCTGTGGCTGTTGCTGCT	0.413												
GGT7	2686	broad.mit.edu	37	20	33450619	33450619	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:33450619G>A	uc002xay.2	-	3	598	c.555C>T	c.(553-555)GGC>GGT	p.G185G	GGT7_uc002xaz.1_Silent_p.G202G|GGT7_uc002xba.1_Silent_p.G185G	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	185	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			ovary(1)	1						CTCCTTACCCGCCCAGGCCAG	0.597												
ACSS2	55902	broad.mit.edu	37	20	33509227	33509227	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:33509227C>T	uc002xbd.2	+	11	1493	c.1372C>T	c.(1372-1374)CGC>TGC	p.R458C	ACSS2_uc002xbc.2_Missense_Mutation_p.R363C|ACSS2_uc010zum.1_Intron|ACSS2_uc010gey.2_Missense_Mutation_p.R471C|ACSS2_uc002xbe.2_Missense_Mutation_p.R166C|ACSS2_uc002xbf.2_Intron	NM_018677	NP_061147	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	458					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding				0					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AGGTGCCCAGCGCTGCCCCAT	0.587												
GDF5	8200	broad.mit.edu	37	20	34025642	34025642	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:34025642A>G	uc002xck.1	-	1	386	c.67T>C	c.(67-69)TGC>CGC	p.C23R	GDF5_uc010gfc.1_Missense_Mutation_p.C23R|GDF5_uc010zvc.1_Missense_Mutation_p.C23R	NM_000557	NP_000548	P43026	GDF5_HUMAN	growth differentiation factor 5 preproprotein	23					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)			AACACAGTGCAGATGAATTCC	0.597												
EPB41L1	2036	broad.mit.edu	37	20	34785881	34785881	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:34785881A>T	uc002xfb.2	+	14	1757	c.1586A>T	c.(1585-1587)GAT>GTT	p.D529V	EPB41L1_uc002xeu.2_Missense_Mutation_p.D455V|EPB41L1_uc010zvo.1_Missense_Mutation_p.D529V|EPB41L1_uc002xev.2_Missense_Mutation_p.D529V|EPB41L1_uc002xew.2_Missense_Mutation_p.D420V|EPB41L1_uc002xex.2_Missense_Mutation_p.D486V|EPB41L1_uc002xey.2_Missense_Mutation_p.D444V|EPB41L1_uc002xez.2_Missense_Mutation_p.D455V|EPB41L1_uc010gfq.2_5'UTR	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	529	Spectrin--actin-binding.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			ovary(2)|pancreas(1)	3	Breast(12;0.0239)					ATCCACCGGGATCGAGACTGG	0.597												
DLGAP4	22839	broad.mit.edu	37	20	35064573	35064573	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:35064573C>T	uc002xff.2	+	4	1496	c.1061C>T	c.(1060-1062)GCG>GTG	p.A354V	DLGAP4_uc010zvp.1_Missense_Mutation_p.A354V	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	disks large-associated protein 4 isoform a	354					cell-cell signaling	membrane	protein binding			skin(2)|ovary(1)	3	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACGGATGCCGCGGCCGAGGGC	0.736												
RBL1	5933	broad.mit.edu	37	20	35632262	35632262	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:35632262G>T	uc002xgi.2	-	21	2958	c.2879C>A	c.(2878-2880)GCT>GAT	p.A960D	RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.A960D	NM_002895	NP_002886	P28749	RBL1_HUMAN	retinoblastoma-like protein 1 isoform a	960					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			lung(5)|skin(3)|ovary(2)	10		Myeloproliferative disorder(115;0.00878)				GAGTGGTGGAGCATCCATCTA	0.378												
MAFB	9935	broad.mit.edu	37	20	39317104	39317104	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:39317104G>A	uc002xji.2	-	1	773	c.387C>T	c.(385-387)GGC>GGT	p.G129G		NM_005461	NP_005452	Q9Y5Q3	MAFB_HUMAN	transcription factor MAFB	129					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding				0		Myeloproliferative disorder(115;0.00878)				ggtggtgAGCGCCGCGAAAGC	0.587			T	IGH@	MM							
L3MBTL	26013	broad.mit.edu	37	20	42161464	42161464	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:42161464C>T	uc010zwh.1	+	12	1316	c.1270C>T	c.(1270-1272)CGC>TGC	p.R424C	L3MBTL_uc002xkl.2_Missense_Mutation_p.R356C|L3MBTL_uc002xkm.2_Missense_Mutation_p.R356C|L3MBTL_uc010ggl.2_Missense_Mutation_p.R356C|L3MBTL_uc002xkn.1_Missense_Mutation_p.R115C|L3MBTL_uc002xko.2_Missense_Mutation_p.R8C	NM_015478	NP_056293	Q9Y468	LMBL1_HUMAN	l(3)mbt-like isoform I	356	MBT 2.				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCTGTTGACCGCATGAACCC	0.587												
MYBL2	4605	broad.mit.edu	37	20	42328520	42328520	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:42328520G>A	uc002xlb.1	+	7	1002	c.787G>A	c.(787-789)GCA>ACA	p.A263T	MYBL2_uc010zwj.1_Missense_Mutation_p.A239T|MYBL2_uc002xla.1_Missense_Mutation_p.A263T	NM_002466	NP_002457	P10244	MYBB_HUMAN	MYB-related protein B	263						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(3)|kidney(2)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGATCTGGACGCAGTGCGAAC	0.582												
KCNK15	60598	broad.mit.edu	37	20	43378878	43378878	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:43378878G>A	uc002xmr.2	+	2	456	c.392G>A	c.(391-393)CGG>CAG	p.R131Q		NM_022358	NP_071753	Q9H427	KCNKF_HUMAN	potassium family, subfamily K, member 15	131	Cytoplasmic (Potential).					integral to membrane	potassium channel activity|voltage-gated ion channel activity				0		Myeloproliferative disorder(115;0.0122)				CTGGGCGAACGGCTGAACGCG	0.692												
MATN4	8785	broad.mit.edu	37	20	43927136	43927136	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:43927136A>G	uc002xnn.2	-	7	1287	c.1100T>C	c.(1099-1101)TTC>TCC	p.F367S	MATN4_uc002xno.2_Missense_Mutation_p.F326S|MATN4_uc002xnp.2_Missense_Mutation_p.F285S|MATN4_uc010zwr.1_Missense_Mutation_p.F315S|MATN4_uc002xnr.1_Missense_Mutation_p.F367S	NM_003833	NP_003824	O95460	MATN4_HUMAN	matrilin 4 isoform 1 precursor	408	VWFA 2.					extracellular region	protein binding				0		Myeloproliferative disorder(115;0.0122)				CTGGTTCACGAAGCGCTTCAC	0.617												
CDH22	64405	broad.mit.edu	37	20	44845508	44845508	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:44845508G>A	uc002xrm.2	-	4	1196	c.795C>T	c.(793-795)ATC>ATT	p.I265I	CDH22_uc010ghk.1_Silent_p.I265I|CDH22_uc002xrn.1_Silent_p.I16I	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	265	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)				CGGTGACTACGATGGTGACGG	0.627												
DDX27	55661	broad.mit.edu	37	20	47850160	47850160	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:47850160G>A	uc002xuh.2	+	11	1341	c.1280G>A	c.(1279-1281)AGC>AAC	p.S427N		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	427						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			kidney(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTTGTGAACAGCAACACAGAT	0.557												
ADNP	23394	broad.mit.edu	37	20	49508535	49508535	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:49508535C>T	uc002xvt.1	-	5	3061	c.2716G>A	c.(2716-2718)GAT>AAT	p.D906N	ADNP_uc002xvu.1_Missense_Mutation_p.D906N	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	906						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TCTGGGTTATCGTTAGAGATT	0.388												
SALL4	57167	broad.mit.edu	37	20	50418891	50418891	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:50418891G>A	uc002xwh.3	-	1	158	c.57C>T	c.(55-57)GGC>GGT	p.G19G	SALL4_uc010gii.2_Silent_p.G19G|SALL4_uc002xwi.3_Silent_p.G19G	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	19					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2						GCTGCTGCTCGCCCTGGTCCT	0.587												
CTCFL	140690	broad.mit.edu	37	20	56099127	56099127	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:56099127A>C	uc010gix.1	-	1	797	c.135T>G	c.(133-135)AGT>AGG	p.S45R	CTCFL_uc010giw.1_Missense_Mutation_p.S45R|CTCFL_uc002xym.2_Missense_Mutation_p.S45R|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Missense_Mutation_p.S45R|CTCFL_uc010gjb.1_Missense_Mutation_p.S45R|CTCFL_uc010gjc.1_Missense_Mutation_p.S45R|CTCFL_uc010gjd.1_Missense_Mutation_p.S45R|CTCFL_uc010gje.2_Missense_Mutation_p.S45R|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Missense_Mutation_p.S45R|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Missense_Mutation_p.S45R|CTCFL_uc010gjk.1_Missense_Mutation_p.S45R|CTCFL_uc010gjl.1_Missense_Mutation_p.S45R	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor-like protein	45					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|skin(1)	4	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTCCAACTCACTAGGGCTCC	0.562												
ZNF831	128611	broad.mit.edu	37	20	57768587	57768587	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:57768587C>A	uc002yan.2	+	1	2513	c.2513C>A	c.(2512-2514)CCT>CAT	p.P838H		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	838						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)					CAACCAGAGCCTGTGAGCGCA	0.637												
LAMA5	3911	broad.mit.edu	37	20	60886128	60886128	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:60886128G>T	uc002ycq.2	-	74	10178	c.10111C>A	c.(10111-10113)CTC>ATC	p.L3371I		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3371	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			ovary(1)|pancreas(1)|skin(1)	3	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTCGCGGGAGGACGTGCATG	0.682												
CHRNA4	1137	broad.mit.edu	37	20	61981147	61981147	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:61981147G>A	uc002yes.2	-	5	1794	c.1616C>T	c.(1615-1617)TCG>TTG	p.S539L	CHRNA4_uc002yet.1_Missense_Mutation_p.S363L|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Missense_Mutation_p.S468L|CHRNA4_uc002yev.1_Missense_Mutation_p.S363L|CHRNA4_uc010gkf.1_Missense_Mutation_p.S363L	NM_000744	NP_000735	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 subunit	539	Cytoplasmic (Potential).				B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(1)|skin(1)	2	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CGGGGACACCGAAGAGGGCTC	0.716												
SOX18	54345	broad.mit.edu	37	20	62679699	62679699	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:62679699G>A	uc002yhs.2	-	2	1085	c.975C>T	c.(973-975)ACC>ACT	p.T325T		NM_018419	NP_060889	P35713	SOX18_HUMAN	SRY-box 18	325	Sox C-terminal.				angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis	nucleus	transcription regulatory region DNA binding				0	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GGTCGAACTCGGTGAGGTCCA	0.756												
SAMSN1	64092	broad.mit.edu	37	21	15889305	15889305	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:15889305C>A	uc002yju.1	-	3	269	c.187G>T	c.(187-189)GGA>TGA	p.G63*	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Nonsense_Mutation_p.G131*	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization	63					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			ovary(3)|pancreas(1)	4				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		AAACCGCCTCCATTATTTGAA	0.333												
ADAMTS1	9510	broad.mit.edu	37	21	28210316	28210316	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:28210316C>T	uc002ymf.2	-	9	2941	c.2486G>A	c.(2485-2487)GGC>GAC	p.G829D		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1	829	Spacer.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			lung(3)|large_intestine(2)|central_nervous_system(1)	6		Breast(209;0.000962)		Lung(58;0.215)		AAGGGCATTGCCCACAGTAAG	0.463												
TIAM1	7074	broad.mit.edu	37	21	32492843	32492843	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:32492843C>T	uc002yow.1	-	29	5091	c.4619G>A	c.(4618-4620)CGG>CAG	p.R1540Q	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.R1480Q	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1540					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						CAGGGTTTTCCGGCCTCTTTC	0.602												
HUNK	30811	broad.mit.edu	37	21	33340634	33340634	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:33340634C>T	uc002yph.2	+	6	1307	c.947C>T	c.(946-948)GCG>GTG	p.A316V		NM_014586	NP_055401	P57058	HUNK_HUMAN	hormonally upregulated Neu-associated kinase	316	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			stomach(1)|skin(1)	2						CAGGCACTGGCGAATCGCTGG	0.522												
ETS2	2114	broad.mit.edu	37	21	40186743	40186743	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:40186743C>T	uc002yxg.2	+	5	539	c.343C>T	c.(343-345)CTT>TTT	p.L115F	ETS2_uc002yxf.2_Missense_Mutation_p.L255F	NM_005239	NP_005230	P15036	ETS2_HUMAN	v-ets erythroblastosis virus E26 oncogene	115	PNT.				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|breast(1)|pancreas(1)	4		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				ATGCCAGTGGCTTCTCTGGGC	0.502												
DSCAM	1826	broad.mit.edu	37	21	41385177	41385177	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:41385177C>T	uc002yyq.1	-	33	6275	c.5823G>A	c.(5821-5823)ACG>ACA	p.T1941T	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1941	Cytoplasmic (Potential).			HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCTCCAGGACCGTGGGGCGCT	0.627												
DSCAM	1826	broad.mit.edu	37	21	41414420	41414420	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:41414420G>A	uc002yyq.1	-	32	6016	c.5564C>T	c.(5563-5565)ACG>ATG	p.T1855M	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1855	Cytoplasmic (Potential).				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGACTGTCCGTGTACTCATT	0.527												
RIPK4	54101	broad.mit.edu	37	21	43161767	43161767	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:43161767G>A	uc002yzn.1	-	8	1634	c.1586C>T	c.(1585-1587)TCG>TTG	p.S529L		NM_020639	NP_065690	P57078	RIPK4_HUMAN	ankyrin repeat domain 3	529						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	7						CTCGTTGACCGAGGCGTTCTT	0.632												
ZNF295	49854	broad.mit.edu	37	21	43412172	43412172	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:43412172G>A	uc002zab.3	-	3	2247	c.2033C>T	c.(2032-2034)GCG>GTG	p.A678V	ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.A678V|ZNF295_uc002zaa.3_Missense_Mutation_p.A678V	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN	zinc finger protein 295 isoform L	678	C2H2-type 3.				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3						AAAGCGGTACGCTTTTCCGCA	0.433												
TRPM2	7226	broad.mit.edu	37	21	45811232	45811232	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:45811232C>T	uc002zet.1	+	12	1731	c.1518C>T	c.(1516-1518)AAC>AAT	p.N506N	TRPM2_uc002zeu.1_Silent_p.N506N|TRPM2_uc002zew.1_Silent_p.N506N|TRPM2_uc010gpt.1_Silent_p.N506N|TRPM2_uc002zex.1_Silent_p.N292N|TRPM2_uc002zey.1_Silent_p.N19N	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	506	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3						TCCTGGAGAACGGGGTGCAGC	0.557												
KRTAP10-9	386676	broad.mit.edu	37	21	46047482	46047482	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:46047482G>A	uc002zfp.3	+	1	443	c.394G>A	c.(394-396)GCC>ACC	p.A132T	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	keratin associated protein 10-9	132	25 X 5 AA repeats of C-C-X(3).|11.					keratin filament					0						agcttgctgtgcctcttcctc	0.159												
COL6A1	1291	broad.mit.edu	37	21	47401840	47401840	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:47401840C>A	uc002zhu.1	+	1	178	c.76C>A	c.(76-78)CCG>ACG	p.P26T		NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	26	N-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			ovary(1)	1	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCCGGAGACCCCGAGGGCCGT	0.721												
COL6A2	1292	broad.mit.edu	37	21	47531946	47531946	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:47531946G>A	uc002zia.1	+	3	251	c.169G>A	c.(169-171)GTC>ATC	p.V57I	COL6A2_uc002zhy.1_Missense_Mutation_p.V57I|COL6A2_uc002zhz.1_Missense_Mutation_p.V57I|COL6A2_uc002zib.1_Intron	NM_001849	NP_001840	P12110	CO6A2_HUMAN	alpha 2 type VI collagen isoform 2C2 precursor	57	VWFA 1.|Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(7)|ovary(1)	8	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTCGGAGAGCGTCACCATGCA	0.602												
DIP2A	23181	broad.mit.edu	37	21	47987341	47987341	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:47987341C>T	uc002zjo.2	+	38	4705	c.4522C>T	c.(4522-4524)CAG>TAG	p.Q1508*	DIP2A_uc011afz.1_Nonsense_Mutation_p.Q1504*|DIP2A_uc002zjs.2_Nonsense_Mutation_p.Q188*|DIP2A_uc002zjt.2_RNA	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	1508					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TGGGCTAGAGCAGGATGCCCT	0.612												
CECR6	27439	broad.mit.edu	37	22	17601107	17601107	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:17601107G>A	uc002zmb.2	-	1	1107	c.911C>T	c.(910-912)GCG>GTG	p.A304V	CECR6_uc002zma.2_Intron|uc002zmc.2_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	304	Ala-rich.										0		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		tgccgcggccgcccccaggcc	0.478												
TSSK2	23617	broad.mit.edu	37	22	19119328	19119328	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:19119328G>A	uc002zow.2	+	1	1008	c.416G>A	c.(415-417)TGC>TAC	p.C139Y	DGCR14_uc002zot.2_3'UTR|DGCR14_uc002zou.2_3'UTR|DGCR14_uc002zov.2_RNA	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	139	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			stomach(1)	1	Colorectal(54;0.0993)					GACCTCAAGTGCGAGAACCTT	0.592												
HIRA	7290	broad.mit.edu	37	22	19340920	19340920	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:19340920C>T	uc002zpf.1	-	23	3027	c.2807G>A	c.(2806-2808)CGC>CAC	p.R936H	HIRA_uc011agx.1_Missense_Mutation_p.R802H|HIRA_uc010grn.1_Missense_Mutation_p.R729H|HIRA_uc010gro.1_Missense_Mutation_p.R892H|HIRA_uc010grp.2_RNA	NM_003325	NP_003316	P54198	HIRA_HUMAN	HIR histone cell cycle regulation defective	936	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(1)	1	Colorectal(54;0.0993)					GAGCCAATGGCGGTACTCGTG	0.622												
CDC45	8318	broad.mit.edu	37	22	19492925	19492925	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:19492925G>A	uc002zpr.2	+	10	821	c.745G>A	c.(745-747)GTT>ATT	p.V249I	CDC45_uc011agz.1_Missense_Mutation_p.V244I|CDC45_uc011aha.1_Missense_Mutation_p.V281I|CDC45_uc002zps.2_Missense_Mutation_p.V249I|CDC45_uc002zpt.2_Missense_Mutation_p.V203I	NM_003504	NP_003495	O75419	CDC45_HUMAN	CDC45-like	249					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			lung(1)	1						GCAGCGCCACGTTTCCCGCCA	0.542												
GNB1L	54584	broad.mit.edu	37	22	19808148	19808148	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:19808148G>A	uc002zqe.1	-	3	621	c.227C>T	c.(226-228)ACG>ATG	p.T76M	GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqf.1_Missense_Mutation_p.T76M	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein	76	WD 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)	1	Colorectal(54;0.0993)					CTGGGGCAGCGTCTGCAGCCA	0.652												
COMT	1312	broad.mit.edu	37	22	19956195	19956195	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:19956195G>T	uc002zqu.2	+	6	1001	c.752G>T	c.(751-753)AGG>ATG	p.R251M	COMT_uc002zqv.2_Missense_Mutation_p.R251M|COMT_uc002zqw.2_Missense_Mutation_p.R251M|COMT_uc011ahd.1_Missense_Mutation_p.R251M|COMT_uc002zqx.2_Missense_Mutation_p.R251M	NM_000754	NP_000745	P21964	COMT_HUMAN	catechol-O-methyltransferase isoform MB-COMT	251					neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process	cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction	catechol O-methyltransferase activity|magnesium ion binding|protein binding			ovary(1)	1	Colorectal(54;0.0993)				Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323)	CTGGAATACAGGGAGGTGGTG	0.647												
ZDHHC8	29801	broad.mit.edu	37	22	20127121	20127121	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:20127121G>A	uc002zrq.2	+	3	453	c.347G>A	c.(346-348)CGC>CAC	p.R116H	ZDHHC8_uc002zrr.1_Missense_Mutation_p.R116H|ZDHHC8_uc010gsa.2_Missense_Mutation_p.R14H	NM_013373	NP_037505	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC domain containing 8	116	Cytoplasmic (Potential).|DHHC-type.					cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Colorectal(54;0.0993)					CGCCCGCCGCGCTGCTCCCAC	0.657												
MED15	51586	broad.mit.edu	37	22	20920849	20920849	+	Missense_Mutation	SNP	G	G	T	rs361923		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:20920849G>T	uc002zsp.2	+	7	866	c.786G>T	c.(784-786)CAG>CAT	p.Q262H	MED15_uc002zso.2_Missense_Mutation_p.Q191H|MED15_uc002zsq.2_Missense_Mutation_p.Q262H|MED15_uc010gso.2_Missense_Mutation_p.Q262H|MED15_uc002zsr.2_Missense_Mutation_p.Q236H|MED15_uc011ahs.1_Missense_Mutation_p.Q236H|MED15_uc002zss.2_Missense_Mutation_p.Q181H|MED15_uc011ahu.1_Translation_Start_Site	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	mediator complex subunit 15 isoform a	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			skin(1)	1	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			agcagcagcagGCTTTGCAGG	0.333												
HIC2	23119	broad.mit.edu	37	22	21799216	21799216	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:21799216G>A	uc002zur.3	+	3	262	c.32G>A	c.(31-33)TGC>TAC	p.C11Y	HIC2_uc002zus.3_Missense_Mutation_p.C11Y	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	11					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			skin(1)	1	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CACAGGTGGTGCGCGTGGGCA	0.672												
SMARCB1	6598	broad.mit.edu	37	22	24167550	24167550	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:24167550G>A	uc002zyb.2	+	7	1141	c.934G>A	c.(934-936)GCA>ACA	p.A312T	SMARCB1_uc002zya.2_Intron|SMARCB1_uc002zyc.2_Missense_Mutation_p.A303T|SMARCB1_uc002zyd.2_Missense_Mutation_p.A321T	NM_003073	NP_003064	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin	312	Interaction with PPP1R15A.|2.|2 X approximate tandem repeats.				cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(6)|p.L266_*386del(1)|p.A312fs*9(1)		soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1)	407		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CACCACCATCGCATACAGCAT	0.557			D|N|F|S		malignant rhabdoid 	malignant rhabdoid			Rhabdoid_Predisposition_syndrome|Schwannomatosis			
ZNRF3	84133	broad.mit.edu	37	22	29440829	29440829	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:29440829T>C	uc003aeg.2	+	5	560	c.395T>C	c.(394-396)GTC>GCC	p.V132A	ZNRF3_uc003aeh.1_Missense_Mutation_p.V132A	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	232	Helical; (Potential).					integral to membrane	zinc ion binding			ovary(1)	1						GTCTCCTTGGTCTGCCTCATC	0.532												
EMID1	129080	broad.mit.edu	37	22	29621187	29621187	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:29621187C>T	uc003aen.2	+	4	454	c.379C>T	c.(379-381)CGG>TGG	p.R127W	EMID1_uc003aem.2_Missense_Mutation_p.R129W|EMID1_uc003aeo.2_Missense_Mutation_p.R129W|EMID1_uc003aep.2_Missense_Mutation_p.R129W	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	EMI domain containing 1	127						collagen					0						GATGGCGCTTCGGCCCACAGC	0.632												
GAS2L1	10634	broad.mit.edu	37	22	29706822	29706822	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:29706822C>T	uc003afa.1	+	5	1043	c.844C>T	c.(844-846)CGC>TGC	p.R282C	GAS2L1_uc010gvm.1_Missense_Mutation_p.R282C|GAS2L1_uc003afb.1_Missense_Mutation_p.R282C|GAS2L1_uc003afc.1_Missense_Mutation_p.R282C|GAS2L1_uc003afd.1_Missense_Mutation_p.R282C|GAS2L1_uc003afe.1_Missense_Mutation_p.R282C	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1 isoform a	282					cell cycle arrest	cytoplasm|cytoskeleton					0						CGCAGCTCATCGCCCACCCCA	0.687												
CCDC157	550631	broad.mit.edu	37	22	30766894	30766894	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:30766894C>T	uc011aku.1	+	5	1660	c.1000C>T	c.(1000-1002)CAG>TAG	p.Q334*	CCDC157_uc011akv.1_Nonsense_Mutation_p.Q334*	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	coiled-coil domain containing 157	334	Potential.									central_nervous_system(1)	1						GGAGGATGAGCAGTGCCTGTC	0.657												
SEC14L3	266629	broad.mit.edu	37	22	30857641	30857641	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:30857641C>T	uc003ahy.2	-	10	901	c.812G>A	c.(811-813)CGG>CAG	p.R271Q	SEC14L3_uc003ahz.2_Missense_Mutation_p.R194Q|SEC14L3_uc003aia.2_Missense_Mutation_p.R212Q|SEC14L3_uc003aib.2_Missense_Mutation_p.R212Q	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	SEC14-like 3	271						integral to membrane|intracellular	lipid binding|transporter activity			ovary(3)|pancreas(1)|skin(1)	5					Vitamin E(DB00163)	CACCTGGTCCCGCACGTACAT	0.443												
DUSP18	150290	broad.mit.edu	37	22	31059662	31059662	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:31059662C>T	uc003aiu.2	-	2	830	c.329G>A	c.(328-330)CGC>CAC	p.R110H	SLC35E4_uc003ait.2_Intron|DUSP18_uc010gwa.1_RNA|DUSP18_uc003aiw.1_Missense_Mutation_p.R110H	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	110	Tyrosine-protein phosphatase.			R->K: Abolishes most of in vitro phosphatase activity.		cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity				0						GGCAGCTGAGCGGCTCACACC	0.592												
MORC2	22880	broad.mit.edu	37	22	31324132	31324132	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:31324132A>G	uc003aje.1	-	26	4082	c.2718T>C	c.(2716-2718)CGT>CGC	p.R906R		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	968	Potential.						ATP binding|zinc ion binding			ovary(1)|pancreas(1)	2						GGGAGTCAGCACGGCTCTGGT	0.567												
SFI1	9814	broad.mit.edu	37	22	32000924	32000924	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:32000924C>T	uc003ale.2	+	20	2440	c.2047C>T	c.(2047-2049)CTG>TTG	p.L683L	SFI1_uc003ald.1_Silent_p.L659L|SFI1_uc003alf.2_Silent_p.L652L|SFI1_uc003alg.2_Silent_p.L601L|SFI1_uc011alp.1_Silent_p.L601L|SFI1_uc011alq.1_Silent_p.L628L|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_Intron	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	spindle assembly associated Sfi1 homolog isoform	683					G2/M transition of mitotic cell cycle	centriole|cytosol				central_nervous_system(1)	1						CAACAGGCAGCTGCTGCGGTG	0.637												
SLC5A4	6527	broad.mit.edu	37	22	32628914	32628914	+	Silent	SNP	C	C	T	rs143604627		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:32628914C>T	uc003ami.2	-	9	995	c.993G>A	c.(991-993)CCG>CCA	p.P331P		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (low affinity glucose	331	Helical; (Potential).				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity				0						TGATCATCCCCGGCATCACCA	0.473												
TOM1	10043	broad.mit.edu	37	22	35743188	35743188	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:35743188C>T	uc003ann.2	+	15	1590	c.1465C>T	c.(1465-1467)CTG>TTG	p.L489L	TOM1_uc011ami.1_Silent_p.L457L|TOM1_uc011amj.1_Silent_p.L332L|TOM1_uc003ans.2_Silent_p.L332L|TOM1_uc011amk.1_Silent_p.L451L|TOM1_uc003anp.2_Silent_p.L490L|TOM1_uc011aml.1_Silent_p.L444L|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Silent_p.L483L|TOM1_uc003anr.2_Silent_p.L332L	NM_005488	NP_005479	O60784	TOM1_HUMAN	target of myb1 isoform 1	489					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			ovary(1)	1						TGATGACATGCTGTTTGCCTT	0.637												
MYH9	4627	broad.mit.edu	37	22	36700098	36700098	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:36700098T>G	uc003apg.2	-	19	2564	c.2333A>C	c.(2332-2334)AAG>ACG	p.K778T	MYH9_uc003aph.1_Missense_Mutation_p.K642T	NM_002473	NP_002464	P35579	MYH9_HUMAN	myosin, heavy polypeptide 9, non-muscle	778	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						GTCGGTGATCTTCAGGTCTCG	0.617			T	ALK	ALCL		Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome		Hereditary_Macrothrombocytopenia_MYH9-associated			
APOBEC3D	140564	broad.mit.edu	37	22	39418942	39418942	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:39418942C>T	uc011aoe.1	+	2	187	c.133C>T	c.(133-135)CGC>TGC	p.R45C	APOBEC3D_uc011aod.1_Missense_Mutation_p.R45C|APOBEC3D_uc011aof.1_Missense_Mutation_p.R45C|APOBEC3D_uc003awu.3_Missense_Mutation_p.R45C|APOBEC3D_uc003awt.3_Missense_Mutation_p.R45C|APOBEC3D_uc010gxu.2_5'UTR	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	45					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding				0	Melanoma(58;0.04)					AAAGAGGGGCCGCTCAAATCT	0.498												
SMCR7L	54471	broad.mit.edu	37	22	39909948	39909948	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:39909948C>T	uc003axx.2	+	6	1510	c.1012C>T	c.(1012-1014)CGG>TGG	p.R338W	SMCR7L_uc003axw.2_Missense_Mutation_p.R338W|SMCR7L_uc010gxz.1_Missense_Mutation_p.R160W|SMCR7L_uc003axy.2_Missense_Mutation_p.R160W	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN	hypothetical protein LOC54471	338						integral to membrane|mitochondrion		p.R338Q(1)		central_nervous_system(1)	1	Melanoma(58;0.04)					CAACCTGTGGCGGCTGAGCCT	0.602											OREG0026577	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SGSM3	27352	broad.mit.edu	37	22	40801789	40801789	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:40801789G>A	uc003ayu.1	+	8	964	c.755G>A	c.(754-756)CGC>CAC	p.R252H	SGSM3_uc010gyc.1_Missense_Mutation_p.R252H|SGSM3_uc011aos.1_Missense_Mutation_p.R185H|SGSM3_uc011aot.1_Missense_Mutation_p.R189H|SGSM3_uc010gyd.1_Missense_Mutation_p.R252H	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	252	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			ovary(2)	2						CGGGTCCTGCGCCACCTCATT	0.617												
RBX1	9978	broad.mit.edu	37	22	41360110	41360110	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:41360110G>T	uc003azk.2	+	3	235	c.217G>T	c.(217-219)GGA>TGA	p.G73*	XPNPEP3_uc011aoy.1_RNA	NM_014248	NP_055063	P62877	RBX1_HUMAN	ring-box 1	73	RING-type.				DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			skin(1)	1						TGTCGCATGGGGAGTCTGTAA	0.458												
L3MBTL2	83746	broad.mit.edu	37	22	41625570	41625570	+	Nonsense_Mutation	SNP	C	C	T	rs151099443		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:41625570C>T	uc003azo.2	+	16	1969	c.1915C>T	c.(1915-1917)CGA>TGA	p.R639*	L3MBTL2_uc003azn.2_RNA|CHADL_uc003azq.3_3'UTR|CHADL_uc010gyj.2_3'UTR	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2	639					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3						CACTAAGACGCGACCCCTCAG	0.532												
PMM1	5372	broad.mit.edu	37	22	41982188	41982188	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:41982188G>A	uc003bal.2	-	2	159	c.97C>T	c.(97-99)CCT>TCT	p.P33S		NM_002676	NP_002667	Q92871	PMM1_HUMAN	phosphomannomutase 1	33					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			ovary(1)	1						GCCACCTCAGGGTCAATTTTC	0.557												
SEPT3	55964	broad.mit.edu	37	22	42383721	42383721	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:42383721G>A	uc003bbr.3	+	5	647	c.509G>A	c.(508-510)CGT>CAT	p.R170H	WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Missense_Mutation_p.R170H|SEPT3_uc010gyr.2_Missense_Mutation_p.R106H|SEPT3_uc011apj.1_Missense_Mutation_p.R106H|SEPT3_uc010gys.2_Translation_Start_Site	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	septin 3 isoform A	170					cell cycle|cytokinesis	cell junction|septin complex	GTP binding				0						CCTGACACTCGTGTCCACTGC	0.517												
FBLN1	2192	broad.mit.edu	37	22	45923783	45923783	+	Silent	SNP	C	C	T	rs144410933	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:45923783C>T	uc003bgj.1	+	4	525	c.378C>T	c.(376-378)TGC>TGT	p.C126C	FBLN1_uc003bgg.1_Silent_p.C126C|FBLN1_uc003bgh.2_Silent_p.C126C|FBLN1_uc010gzz.2_Silent_p.C164C|FBLN1_uc003bgi.1_Silent_p.C126C	NM_006486	NP_006477	P23142	FBLN1_HUMAN	fibulin 1 isoform D	126	Anaphylatoxin-like 3.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			ovary(1)|central_nervous_system(1)	2		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GCCAGAGCTGCGAGTACAGCC	0.622												
PKDREJ	10343	broad.mit.edu	37	22	46657387	46657387	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:46657387T>C	uc003bhh.2	-	1	1833	c.1833A>G	c.(1831-1833)TCA>TCG	p.S611S		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	receptor for egg jelly-like protein precursor	611	Extracellular (Potential).|REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			breast(3)|ovary(2)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTCTTTTACTGAACTGATTT	0.428												
TTC38	55020	broad.mit.edu	37	22	46681140	46681140	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:46681140C>T	uc003bhi.2	+	9	874	c.798C>T	c.(796-798)GGC>GGT	p.G266G	TTC38_uc011aqx.1_Silent_p.G208G	NM_017931	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	266	TPR 3.						binding			ovary(1)	1						TCTTCCAGGGCGAATATGAGG	0.493												
CELSR1	9620	broad.mit.edu	37	22	46773080	46773080	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:46773080C>T	uc003bhw.1	-	24	7462	c.7462G>A	c.(7462-7464)GTC>ATC	p.V2488I	CELSR1_uc011arc.1_Missense_Mutation_p.V809I	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	2488	Helical; Name=1; (Potential).				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			lung(4)|breast(4)|pancreas(2)|skin(1)	11		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTCAGGAGGACGAAGGCCACC	0.602												
BRD1	23774	broad.mit.edu	37	22	50217527	50217527	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:50217527C>T	uc003biv.2	-	1	926	c.439G>A	c.(439-441)GCC>ACC	p.A147T	BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.A147T|BRD1_uc011arh.1_Missense_Mutation_p.A147T|BRD1_uc003biu.3_Missense_Mutation_p.A147T	NM_014577	NP_055392	O95696	BRD1_HUMAN	bromodomain containing protein 1	147					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			pancreas(1)	1		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AGTTCCTCGGCCGACTTCTCG	0.627												
PLXNB2	23654	broad.mit.edu	37	22	50728599	50728599	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:50728599C>T	uc003bkv.3	-	3	521	c.415G>A	c.(415-417)GGG>AGG	p.G139R		NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	139	Extracellular (Potential).|Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			ovary(4)|central_nervous_system(1)|skin(1)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GACTTCTCCCCGCTGCCGTCC	0.647												
FAM116B	414918	broad.mit.edu	37	22	50755772	50755772	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:50755772A>G	uc011aru.1	-	6	475	c.403T>C	c.(403-405)TAC>CAC	p.Y135H	FAM116B_uc011arv.1_Missense_Mutation_p.Y135H	NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	family with sequence similarity 116, member B	135											0		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCTGAAGTACACGTAGCCG	0.642												
MIOX	55586	broad.mit.edu	37	22	50928041	50928041	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:50928041C>T	uc003bll.1	+	9	831	c.717C>T	c.(715-717)GAC>GAT	p.D239D	MIOX_uc003blm.1_Silent_p.D239D|MIOX_uc003bln.1_Intron	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	239					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity				0		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCAGCAGGACCTGGCCATGC	0.672												
CHL1	10752	broad.mit.edu	37	3	402043	402043	+	Silent	SNP	G	G	A	rs144449707		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:402043G>A	uc003bou.2	+	11	1465	c.1194G>A	c.(1192-1194)GTG>GTA	p.V398V	CHL1_uc003bot.2_Silent_p.V414V|CHL1_uc003bow.1_Silent_p.V398V|CHL1_uc011asi.1_Silent_p.V414V	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	398	Ig-like C2-type 4.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATACTGCTGTGTACCAGTGTG	0.428												
IL5RA	3568	broad.mit.edu	37	3	3139598	3139598	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:3139598G>T	uc011ask.1	-	8	1309	c.665C>A	c.(664-666)TCT>TAT	p.S222Y	IL5RA_uc010hbq.2_Missense_Mutation_p.S222Y|IL5RA_uc010hbr.2_Intron|IL5RA_uc010hbs.2_Missense_Mutation_p.S222Y|IL5RA_uc011asl.1_Missense_Mutation_p.S222Y|IL5RA_uc011asm.1_Missense_Mutation_p.S222Y|IL5RA_uc010hbt.2_Missense_Mutation_p.S222Y|IL5RA_uc011asn.1_Missense_Mutation_p.S222Y|IL5RA_uc010hbu.2_Missense_Mutation_p.S222Y	NM_000564	NP_000555	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha isoform 1	222	Extracellular (Potential).				cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			ovary(1)	1				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CCTGATAGCAGAGTGCTTGCT	0.448												
ZFYVE20	64145	broad.mit.edu	37	3	15115637	15115637	+	Missense_Mutation	SNP	C	C	G	rs139954695		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:15115637C>G	uc003bzm.1	-	14	2621	c.2007G>C	c.(2005-2007)GAG>GAC	p.E669D	ZFYVE20_uc010hek.1_Missense_Mutation_p.E669D	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	669	Poly-Glu.|Necessary for the interaction with RAB5A.|Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						CTTCCTCCTCCTCGTCCTCTT	0.557												
ZFYVE20	64145	broad.mit.edu	37	3	15127396	15127396	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:15127396A>G	uc003bzm.1	-	6	976	c.362T>C	c.(361-363)GTC>GCC	p.V121A	ZFYVE20_uc010hek.1_Missense_Mutation_p.V121A|ZFYVE20_uc011avn.1_Missense_Mutation_p.V121A	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	FYVE-finger-containing Rab5 effector protein	121	Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			skin(2)	2						TAGTTTATTGACTTCCACAAC	0.358												
RFTN1	23180	broad.mit.edu	37	3	16535299	16535299	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:16535299A>G	uc003cay.2	-	2	360	c.78T>C	c.(76-78)CCT>CCC	p.P26P		NM_015150	NP_055965	Q14699	RFTN1_HUMAN	raft-linking protein	26						plasma membrane				ovary(3)|central_nervous_system(1)	4						TTTCCACCTGAGGCCTCTTCA	0.488												
KCNH8	131096	broad.mit.edu	37	3	19479672	19479672	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:19479672G>A	uc003cbk.1	+	8	1389	c.1194G>A	c.(1192-1194)TTG>TTA	p.L398L	KCNH8_uc011awe.1_Silent_p.L398L|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_Silent_p.L29L	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	398	Extracellular (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5						TTCATGAGTTGGGAAAGAGAC	0.443												
KAT2B	8850	broad.mit.edu	37	3	20181816	20181816	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:20181816C>T	uc003cbq.2	+	13	2410	c.1964C>T	c.(1963-1965)CCG>CTG	p.P655L		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	655					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3						CCACGGATCCCGTACACAGAA	0.418												
SCN5A	6331	broad.mit.edu	37	3	38601732	38601732	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:38601732C>T	uc003cio.2	-	23	4345	c.4151G>A	c.(4150-4152)TGT>TAT	p.C1384Y	SCN5A_uc003cin.2_Missense_Mutation_p.C1383Y|SCN5A_uc003cil.3_Missense_Mutation_p.C1384Y|SCN5A_uc010hhi.2_Missense_Mutation_p.C1384Y|SCN5A_uc010hhk.2_Missense_Mutation_p.C1383Y|SCN5A_uc011ayr.1_Missense_Mutation_p.C1330Y|SCN5A_uc010hhj.1_Missense_Mutation_p.C994Y	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	voltage-gated sodium channel type V alpha	1384					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1)	9	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAAGGACTCACACTGGCTCTT	0.527												
CCR3	1232	broad.mit.edu	37	3	46307472	46307472	+	Missense_Mutation	SNP	C	C	T	rs41276535		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:46307472C>T	uc003cpg.1	+	4	1366	c.823C>T	c.(823-825)CGG>TGG	p.R275W	CCR3_uc003cpi.1_Missense_Mutation_p.R275W|CCR3_uc003cpj.1_Missense_Mutation_p.R275W|CCR3_uc003cpk.1_Missense_Mutation_p.R296W|CCR3_uc010hjb.1_Missense_Mutation_p.R293W|CCR3_uc003cpl.1_Missense_Mutation_p.R308W	NM_178329	NP_847899	P51677	CCR3_HUMAN	CC chemokine receptor 3 isoform 1	275	Extracellular (Potential).				cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				ovary(3)|lung(3)|breast(1)|kidney(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		TGACTGTGAGCGGAGCAAGCA	0.483												
MYL3	4634	broad.mit.edu	37	3	46902256	46902256	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:46902256A>G	uc003cql.1	-	3	310	c.217T>C	c.(217-219)TAC>CAC	p.Y73H		NM_000258	NP_000249	P08590	MYL3_HUMAN	slow skeletal ventricular myosin alkali light	73	EF-hand 1.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle				0				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		CACTGCCCGTAGGTGATCTTC	0.607												
NBEAL2	23218	broad.mit.edu	37	3	47037020	47037020	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:47037020C>T	uc003cqp.2	+	13	1974	c.1795C>T	c.(1795-1797)CCA>TCA	p.P599S	NBEAL2_uc003cqq.1_Missense_Mutation_p.P565S|NBEAL2_uc010hjm.1_Missense_Mutation_p.P160S	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	599							binding			ovary(1)	1		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACAGCGATGGCCAGGGCCTGG	0.622												
C3orf75	54859	broad.mit.edu	37	3	47545907	47545907	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:47545907C>T	uc003crk.2	-	4	355	c.236G>A	c.(235-237)GGG>GAG	p.G79E	C3orf75_uc003crj.2_Missense_Mutation_p.G6E|C3orf75_uc011bba.1_Missense_Mutation_p.G30E|C3orf75_uc003crl.1_Missense_Mutation_p.G79E	NM_001031703	NP_001026873	Q0PNE2	CC075_HUMAN	transmembrane protein 103	79											0						CACAAGCTGCCCACGCTCCCG	0.547												
PFKFB4	5210	broad.mit.edu	37	3	48559432	48559432	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:48559432C>T	uc003ctv.2	-	13	1354	c.1337G>A	c.(1336-1338)CGG>CAG	p.R446Q	PFKFB4_uc003ctw.2_Missense_Mutation_p.R255Q|PFKFB4_uc010hkc.2_Missense_Mutation_p.R411Q|PFKFB4_uc003ctx.2_Missense_Mutation_p.R403Q|PFKFB4_uc010hkb.2_Missense_Mutation_p.R439Q|PFKFB4_uc011bbm.1_Missense_Mutation_p.R435Q	NM_004567	NP_004558	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,	446	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		AGGCCTGTCCCGGTGCGTGTT	0.587												
COL7A1	1294	broad.mit.edu	37	3	48631879	48631879	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:48631879C>A	uc003ctz.2	-	2	189	c.188G>T	c.(187-189)GGG>GTG	p.G63V		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	63	Nonhelical region (NC1).|VWFA 1.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCACCAGCCCTTCGAGAAA	0.607												
CELSR3	1951	broad.mit.edu	37	3	48698723	48698723	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:48698723C>A	uc003cul.2	-	1	1626	c.1345G>T	c.(1345-1347)GGC>TGC	p.G449C	CELSR3_uc003cuf.1_Missense_Mutation_p.G519C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	449	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATAGGGTAGCCCTCCTCCACA	0.677												
NDUFAF3	25915	broad.mit.edu	37	3	49059586	49059586	+	Silent	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:49059586C>A	uc003cvq.2	+	1	513	c.9C>A	c.(7-9)ACC>ACA	p.T3T	DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|uc011bcb.1_5'Flank|MIR425_hsa-mir-425|MI0001448_5'Flank|NDUFAF3_uc003cvn.2_Intron|uc003cvo.1_5'Flank|MIR191_hsa-mir-191|MI0000465_5'Flank|NDUFAF3_uc003cvp.2_Intron|NDUFAF3_uc003cvr.2_Intron|NDUFAF3_uc003cvs.2_5'UTR	NM_199069	NP_951032	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	3					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding				0						CCATGGCCACCGCTCTCGCGC	0.706											OREG0015566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
USP19	10869	broad.mit.edu	37	3	49152674	49152674	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:49152674G>T	uc003cwd.1	-	12	1861	c.1700C>A	c.(1699-1701)CCT>CAT	p.P567H	USP19_uc003cwa.2_Missense_Mutation_p.P375H|USP19_uc003cvz.3_Missense_Mutation_p.P670H|USP19_uc011bcg.1_Missense_Mutation_p.P658H|USP19_uc003cwb.2_Missense_Mutation_p.P653H|USP19_uc003cwc.1_Missense_Mutation_p.P325H|USP19_uc011bch.1_Missense_Mutation_p.P668H	NM_006677	NP_006668	O94966	UBP19_HUMAN	ubiquitin thioesterase 19	567	Cytoplasmic (Potential).				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(4)|breast(2)|lung(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAACTTGGAAGGCTGGAAGGC	0.612												
LAMB2	3913	broad.mit.edu	37	3	49160626	49160626	+	Missense_Mutation	SNP	C	C	T	rs146522641	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:49160626C>T	uc003cwe.2	-	26	4462	c.4163G>A	c.(4162-4164)CGG>CAG	p.R1388Q	USP19_uc003cvz.3_5'Flank|USP19_uc011bcg.1_5'Flank|USP19_uc003cwb.2_5'Flank|USP19_uc003cwd.1_5'Flank|USP19_uc011bch.1_5'Flank|USP19_uc011bci.1_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	1388	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCCAAGTGCCCGCTGGTTGGC	0.567												
GMPPB	29925	broad.mit.edu	37	3	49760036	49760036	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:49760036C>T	uc003cxk.1	-	5	779	c.554G>A	c.(553-555)CGC>CAC	p.R185H	AMIGO3_uc003cxj.2_5'Flank|GMPPB_uc003cxl.1_Missense_Mutation_p.R185H	NM_021971	NP_068806	Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B isoform 2	185					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity				0				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACCTGGATGCGCTGCAGCAC	0.607												
HYAL3	8372	broad.mit.edu	37	3	50330720	50330720	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:50330720G>A	uc003czd.1	-	4	1484	c.1211C>T	c.(1210-1212)CCC>CTC	p.P404L	HYAL3_uc003czc.1_Missense_Mutation_p.P374L|HYAL3_uc003cze.1_Missense_Mutation_p.P155L|HYAL3_uc003czf.1_Missense_Mutation_p.P125L|HYAL3_uc003czg.1_Missense_Mutation_p.P374L|IFRD2_uc011bdp.1_5'Flank|IFRD2_uc003czb.2_5'Flank	NM_003549	NP_003540	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3 precursor	404	EGF-like.				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGCAGGTGGGGCCAGCCCA	0.597												
HYAL1	3373	broad.mit.edu	37	3	50340041	50340041	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:50340041G>A	uc003czp.2	-	2	479	c.347C>T	c.(346-348)GCC>GTC	p.A116V	HYAL1_uc003czm.2_5'UTR|HYAL1_uc003czo.2_Intron|HYAL1_uc003czq.2_Missense_Mutation_p.A116V|HYAL1_uc003czr.2_Missense_Mutation_p.A116V|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Missense_Mutation_p.A116V|HYAL1_uc003czt.2_Missense_Mutation_p.A116V	NM_033159	NP_149349	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	116						extracellular space|lysosome	hyalurononglucosaminidase activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	AGCAGGTATGGCAGCCAGGAT	0.622												
DOCK3	1795	broad.mit.edu	37	3	51395471	51395471	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:51395471T>C	uc011bds.1	+	46	4870	c.4847T>C	c.(4846-4848)ATT>ACT	p.I1616T		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1616	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAGAAGCTAATTGATCAGTTC	0.502												
NISCH	11188	broad.mit.edu	37	3	52522247	52522247	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:52522247G>A	uc011beg.1	+	17	2811	c.2739G>A	c.(2737-2739)ACG>ACA	p.T913T	NISCH_uc003ded.3_Silent_p.T913T|NISCH_uc003dee.3_Silent_p.T402T|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	913					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			ovary(3)|central_nervous_system(1)	4				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TGTTGCTCACGCCCCAGCACC	0.647												
STAB1	23166	broad.mit.edu	37	3	52537421	52537421	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:52537421G>A	uc003dej.2	+	8	830	c.756G>A	c.(754-756)AAG>AAA	p.K252K	STAB1_uc003dei.1_Silent_p.K252K	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	252	EGF-like 4.|Extracellular (Potential).				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	9				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGAGCCCCAAGGGGCAGGCTC	0.642												
ACTR8	93973	broad.mit.edu	37	3	53911737	53911737	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:53911737A>G	uc003dhd.2	-	4	506	c.447T>C	c.(445-447)GAT>GAC	p.D149D	ACTR8_uc003dhb.2_5'Flank|ACTR8_uc003dhc.2_Silent_p.D38D	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	actin-related protein 8	149					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		CCGAACAGTGATCTAAAATTG	0.393												
C3orf63	23272	broad.mit.edu	37	3	56667826	56667826	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:56667826A>G	uc003did.3	-	17	2911	c.2810T>C	c.(2809-2811)GTG>GCG	p.V937A	C3orf63_uc003dib.3_Missense_Mutation_p.V56A|C3orf63_uc003dic.3_Missense_Mutation_p.V561A|C3orf63_uc003die.3_Missense_Mutation_p.V998A	NM_015224	NP_056039	Q9UK61	CC063_HUMAN	retinoblastoma-associated protein 140 isoform b	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(3)|kidney(1)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(284;0.0126)|Kidney(284;0.0147)		CTGCTCCTCCACCTGACCTGT	0.493												
FLNB	2317	broad.mit.edu	37	3	58107205	58107205	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:58107205C>A	uc003djj.2	+	20	3266	c.3101C>A	c.(3100-3102)GCC>GAC	p.A1034D	FLNB_uc010hne.2_Missense_Mutation_p.A1034D|FLNB_uc003djk.2_Missense_Mutation_p.A1034D|FLNB_uc010hnf.2_Missense_Mutation_p.A1034D|FLNB_uc003djl.2_Missense_Mutation_p.A865D|FLNB_uc003djm.2_Missense_Mutation_p.A865D	NM_001457	NP_001448	O75369	FLNB_HUMAN	filamin B isoform 2	1034	Filamin 8.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACAGTGGAGGCCTCGCTGCCA	0.562												
ACOX2	8309	broad.mit.edu	37	3	58512309	58512309	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:58512309C>A	uc003dkl.2	-	10	1405	c.1230G>T	c.(1228-1230)AGG>AGT	p.R410S		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	acyl-Coenzyme A oxidase 2	410					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity				0				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CGCCACAGGCCCTGCGGCACA	0.587												
FEZF2	55079	broad.mit.edu	37	3	62357249	62357249	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:62357249G>T	uc003dlh.2	-	2	1153	c.946C>A	c.(946-948)CAG>AAG	p.Q316K	FEZF2_uc003dli.2_Missense_Mutation_p.Q316K	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	316	C2H2-type 2.				transcription, DNA-dependent	nucleus	zinc ion binding			lung(1)	1		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GTGCTGGCCTGGCGAAAGCCT	0.592												
CNTN3	5067	broad.mit.edu	37	3	74474046	74474046	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:74474046C>T	uc003dpm.1	-	4	484	c.404G>A	c.(403-405)CGT>CAT	p.R135H		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	contactin 3 precursor	135	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			breast(3)|ovary(1)|skin(1)	5		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTGGCCTTCACGCACAGACAC	0.398												
ROBO1	6091	broad.mit.edu	37	3	78655965	78655965	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:78655965C>A	uc003dqe.2	-	29	4870	c.4662G>T	c.(4660-4662)CAG>CAT	p.Q1554H	ROBO1_uc003dqb.2_Missense_Mutation_p.Q1515H|ROBO1_uc003dqc.2_Missense_Mutation_p.Q1454H|ROBO1_uc003dqd.2_Missense_Mutation_p.Q1509H|ROBO1_uc010hoh.2_Missense_Mutation_p.Q746H|ROBO1_uc011bgl.1_Missense_Mutation_p.Q1126H	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	roundabout 1 isoform a	1554	Cytoplasmic (Potential).				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			large_intestine(2)	2		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTTGCTGTTCCTGTGCTTCTC	0.478												
PROS1	5627	broad.mit.edu	37	3	93605341	93605341	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:93605341C>T	uc003drb.3	-	11	1503	c.1162G>A	c.(1162-1164)GTG>ATG	p.V388M	PROS1_uc010hoo.2_Missense_Mutation_p.V257M|PROS1_uc003dqz.3_Missense_Mutation_p.V257M	NM_000313	NP_000304	P07225	PROS_HUMAN	protein S, alpha preproprotein	388	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			large_intestine(1)	1					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	AATTCTTCCACAGACACCTAC	0.299												
ATP6V1A	523	broad.mit.edu	37	3	113503220	113503220	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:113503220G>T	uc003eao.2	+	4	427	c.361G>T	c.(361-363)GGA>TGA	p.G121*	ATP6V1A_uc011bik.1_Nonsense_Mutation_p.G88*	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	121					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(2)|skin(1)	3						CATCCCCAGAGGAGTAAACGT	0.428												
KIAA1407	57577	broad.mit.edu	37	3	113761605	113761605	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:113761605T>C	uc003eax.2	-	4	507	c.360A>G	c.(358-360)TCA>TCG	p.S120S	KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Silent_p.S98S|KIAA1407_uc011bip.1_Silent_p.S107S	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	hypothetical protein LOC57577	120										ovary(2)	2						TAGTGACACTTGACACAGTGT	0.378												
DRD3	1814	broad.mit.edu	37	3	113866314	113866314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:113866314C>T	uc003ebd.2	-	5	897	c.474G>A	c.(472-474)TGG>TGA	p.W158*	DRD3_uc010hqn.1_Nonsense_Mutation_p.W158*|DRD3_uc003ebb.1_Nonsense_Mutation_p.W158*|DRD3_uc003ebc.1_Nonsense_Mutation_p.W158*	NM_000796	NP_000787	P35462	DRD3_HUMAN	dopamine receptor D3 isoform a	158	Helical; Name=4.				activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AGGCCAGTACCCAGACGGCCG	0.542												
STXBP5L	9515	broad.mit.edu	37	3	120976118	120976118	+	Silent	SNP	T	T	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:120976118T>G	uc003eec.3	+	17	1910	c.1770T>G	c.(1768-1770)CTT>CTG	p.L590L	STXBP5L_uc011bji.1_Silent_p.L590L	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	590	WD 9.				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				ovary(7)|skin(2)	9				GBM - Glioblastoma multiforme(114;0.0694)		CAAGGAGTCTTTCTGGGAGCA	0.403												
FBXO40	51725	broad.mit.edu	37	3	121345701	121345701	+	Nonsense_Mutation	SNP	C	C	T	rs146248987	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:121345701C>T	uc003eeg.2	+	4	2284	c.2074C>T	c.(2074-2076)CGA>TGA	p.R692*		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	692					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(114;0.189)		TGAGCAGGCCCGAGAGAGCTT	0.488												
ADCY5	111	broad.mit.edu	37	3	123010154	123010154	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:123010154G>A	uc003egh.1	-	18	3133	c.3133C>T	c.(3133-3135)CCC>TCC	p.P1045S	ADCY5_uc003egg.1_Missense_Mutation_p.P703S	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	1045	Cytoplasmic (Potential).				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			ovary(4)	4				GBM - Glioblastoma multiforme(114;0.0342)		ACGTCCTTGGGCAGGATGTTG	0.592												
MYLK	4638	broad.mit.edu	37	3	123356957	123356957	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:123356957G>A	uc003ego.2	-	29	5204	c.4922C>T	c.(4921-4923)GCC>GTC	p.A1641V	MYLK_uc010hrr.2_Missense_Mutation_p.A76V|MYLK_uc011bjv.1_Missense_Mutation_p.A441V|MYLK_uc011bjw.1_Missense_Mutation_p.A1641V|MYLK_uc003egp.2_Missense_Mutation_p.A1572V|MYLK_uc003egq.2_Missense_Mutation_p.A1641V|MYLK_uc003egr.2_Missense_Mutation_p.A1572V|MYLK_uc003egs.2_Missense_Mutation_p.A1465V	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1641	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			ovary(6)|skin(2)|stomach(1)	9		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CATGTCTGTGGCGTAGCCGAT	0.572												
MCM2	4171	broad.mit.edu	37	3	127327751	127327751	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:127327751T>A	uc003ejp.2	+	8	1370	c.1313T>A	c.(1312-1314)GTC>GAC	p.V438D	MCM2_uc011bkm.1_Missense_Mutation_p.V308D|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.V322D	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	438					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(1)	4						TTTGCCACTGTCATCCTAGCC	0.522												
GP9	2815	broad.mit.edu	37	3	128780678	128780678	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:128780678G>T	uc003elm.2	+	3	283	c.96G>T	c.(94-96)ATG>ATT	p.M32I		NM_000174	NP_000165	P14770	GPIX_HUMAN	glycoprotein IX (platelet) precursor	32	Extracellular (Potential).|LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding				0					Quinine(DB00468)	TGGAAACCATGGGGCTGTGGG	0.697												
PLXND1	23129	broad.mit.edu	37	3	129324661	129324661	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:129324661C>T	uc003emx.2	-	1	922	c.822G>A	c.(820-822)CAG>CAA	p.Q274Q		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1 precursor	274	Extracellular (Potential).|Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1						CCAGCTTGTGCTGCTCCTTGG	0.677												
COL6A6	131873	broad.mit.edu	37	3	130290188	130290188	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:130290188G>A	uc010htl.2	+	6	2959	c.2928G>A	c.(2926-2928)AAG>AAA	p.K976K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	976	VWFA 5.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8						GAGGTCTGAAGGGAATATTTT	0.453												
PPP2R3A	5523	broad.mit.edu	37	3	135720391	135720391	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:135720391C>T	uc003eqv.1	+	2	616	c.51C>T	c.(49-51)AGC>AGT	p.S17S	PPP2R3A_uc011blz.1_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'',	17					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						ACTACAGCAGCGTGGTGATAG	0.438												
MSL2	55167	broad.mit.edu	37	3	135870603	135870603	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:135870603C>T	uc003eqx.1	-	2	1853	c.1120G>A	c.(1120-1122)GTG>ATG	p.V374M	MSL2_uc011bmb.1_Missense_Mutation_p.V300M	NM_018133	NP_060603	Q9HCI7	MSL2_HUMAN	ring finger protein 184 isoform 1	374					histone H4-K16 acetylation	MSL complex	zinc ion binding			central_nervous_system(1)	1						TCCCGTTTCACTGTCACAGGA	0.438												
PAQR9	344838	broad.mit.edu	37	3	142681687	142681687	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:142681687G>A	uc003evg.2	-	1	492	c.492C>T	c.(490-492)TAC>TAT	p.Y164Y	PAQR9_uc003evf.1_5'Flank	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	164	Helical; (Potential).					integral to membrane	receptor activity				0						TGCCGAAGCCGTAGTAGCTGA	0.612												
ZIC1	7545	broad.mit.edu	37	3	147128165	147128165	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:147128165A>C	uc003ewe.2	+	1	985	c.266A>C	c.(265-267)TAT>TCT	p.Y89S		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	89					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2						GTCGGCTCCTATTCCAGCGCA	0.692												
IGSF10	285313	broad.mit.edu	37	3	151165673	151165673	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:151165673C>T	uc011bod.1	-	4	2096	c.2096G>A	c.(2095-2097)CGT>CAT	p.R699H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10 precursor	699					cell differentiation|multicellular organismal development|ossification	extracellular region				skin(7)|ovary(5)|central_nervous_system(1)	13			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAGATGTACGGAGTTGTGC	0.498												
SLC7A14	57709	broad.mit.edu	37	3	170244705	170244705	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:170244705C>T	uc003fgz.2	-	2	337	c.21G>A	c.(19-21)TCG>TCA	p.S7S	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	7						integral to membrane	amino acid transmembrane transporter activity			ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGGGGTCCAGCGAGGTGAAGA	0.572												
ZMAT3	64393	broad.mit.edu	37	3	178785312	178785312	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:178785312C>T	uc003fjg.2	-	2	488	c.229G>A	c.(229-231)GTC>ATC	p.V77I	ZMAT3_uc010hxa.2_Missense_Mutation_p.V77I|ZMAT3_uc003fji.2_Missense_Mutation_p.V77I	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	p53 target zinc finger protein isoform 1	77	Matrin-type 1.				apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			ovary(2)	2	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TTCAAGGTGACATTGCAGAGT	0.507												
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:178952085A>G	uc003fjk.2	+	21	3297	c.3140A>G	c.(3139-3141)CAT>CGT	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)		
CHRD	8646	broad.mit.edu	37	3	184104636	184104636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:184104636C>T	uc003fov.2	+	17	2446	c.2200C>T	c.(2200-2202)CGA>TGA	p.R734*	CHRD_uc003fow.2_Nonsense_Mutation_p.R364*|CHRD_uc003fox.2_Nonsense_Mutation_p.R734*|CHRD_uc003foy.2_Nonsense_Mutation_p.R364*|CHRD_uc010hyc.2_Nonsense_Mutation_p.R324*|CHRD_uc011brr.1_Nonsense_Mutation_p.R276*	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	chordin precursor	734	VWFC 2.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			skin(2)|ovary(1)	3	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTGCAGAGACGAACGGTGAT	0.657												
IGF2BP2	10644	broad.mit.edu	37	3	185367313	185367313	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:185367313G>A	uc003fpo.2	-	14	1550	c.1471C>T	c.(1471-1473)CGG>TGG	p.R491W	IGF2BP2_uc010hyi.2_Missense_Mutation_p.R434W|IGF2BP2_uc010hyj.2_Missense_Mutation_p.R428W|IGF2BP2_uc010hyk.2_Missense_Mutation_p.R355W|IGF2BP2_uc010hyl.2_Missense_Mutation_p.R385W|IGF2BP2_uc003fpp.2_Missense_Mutation_p.R448W|IGF2BP2_uc003fpq.2_Missense_Mutation_p.R496W	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding	491	KH 3.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity				0	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CCAAAGATCCGTCCCTGGGCC	0.532												
RTP1	132112	broad.mit.edu	37	3	186915332	186915332	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:186915332G>A	uc003frg.2	+	1	59	c.29G>A	c.(28-30)CGC>CAC	p.R10H		NM_153708	NP_714919	P59025	RTP1_HUMAN	receptor transporting protein 1	10	Cytoplasmic (Potential).				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			ovary(2)|breast(1)	3	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		TGGAGACTGCGCTGCCCTGCC	0.552												
CLDN1	9076	broad.mit.edu	37	3	190030735	190030735	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:190030735A>G	uc003fsh.2	-	2	534	c.314T>C	c.(313-315)ATG>ACG	p.M105T		NM_021101	NP_066924	O95832	CLD1_HUMAN	claudin 1	105	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(1)	1	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		CAAGCACTTCATACACTTCAT	0.517												
RNF168	165918	broad.mit.edu	37	3	196198765	196198765	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:196198765G>A	uc003fwq.2	-	6	2179	c.1641C>T	c.(1639-1641)TCC>TCT	p.S547S	RNF168_uc010iah.2_Silent_p.S380S|uc010iag.1_5'Flank	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	ring finger protein 168	547					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GAGCACTTTTGGATACCTTAC	0.403												
KIAA1530	57654	broad.mit.edu	37	4	1345607	1345607	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:1345607G>A	uc003gde.3	+	4	981	c.534G>A	c.(532-534)GCG>GCA	p.A178A		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	178	Potential.										0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)			CCAGCCAGGCGGAGAGGGAGA	0.562											OREG0016033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
LETM1	3954	broad.mit.edu	37	4	1843476	1843476	+	Silent	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:1843476G>T	uc003gdv.2	-	3	489	c.192C>A	c.(190-192)TCC>TCA	p.S64S	LETM1_uc010icc.2_5'Flank|LETM1_uc011bvg.1_Silent_p.S64S	NM_012318	NP_036450	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane	64					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			central_nervous_system(1)	1			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CGCCTCTGGAGGATGTGTACA	0.547												
RGS12	6002	broad.mit.edu	37	4	3424244	3424244	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:3424244C>T	uc003ggw.2	+	11	3884	c.2980C>T	c.(2980-2982)CGG>TGG	p.R994W	RGS12_uc003ggv.2_Missense_Mutation_p.R994W|RGS12_uc003ggy.1_Missense_Mutation_p.R392W|RGS12_uc003ggz.2_Missense_Mutation_p.R346W|RGS12_uc010icu.1_Missense_Mutation_p.R193W|RGS12_uc011bvs.1_Missense_Mutation_p.R336W|RGS12_uc003gha.2_Missense_Mutation_p.R336W|RGS12_uc010icv.2_Missense_Mutation_p.R193W|RGS12_uc003ghb.2_Missense_Mutation_p.R193W	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	994	RBD 1.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACTCTGTGAGCGGCATGGCAT	0.647												
EVC2	132884	broad.mit.edu	37	4	5667369	5667369	+	Missense_Mutation	SNP	G	G	T	rs138882677		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:5667369G>T	uc003gij.2	-	8	932	c.878C>A	c.(877-879)CCG>CAG	p.P293Q	EVC2_uc011bwb.1_5'UTR|EVC2_uc003gik.2_Missense_Mutation_p.P213Q	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	limbin	293						integral to membrane				large_intestine(3)|ovary(2)	5						GCCGTGGTGCGGCAGAACCTG	0.507												
MAN2B2	23324	broad.mit.edu	37	4	6580170	6580170	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:6580170G>A	uc003gjf.1	+	3	372	c.336G>A	c.(334-336)CAG>CAA	p.Q112Q	MAN2B2_uc003gje.1_Silent_p.Q112Q|MAN2B2_uc011bwf.1_Silent_p.Q112Q	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	112					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			ovary(2)	2						TCGGAGGCCAGGTCATGCATG	0.592												
C4orf23	152992	broad.mit.edu	37	4	8465746	8465746	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:8465746T>C	uc003glg.1	+	7	739	c.551T>C	c.(550-552)TTC>TCC	p.F184S	C4orf23_uc003glf.1_Missense_Mutation_p.F172S|C4orf23_uc003glh.1_Missense_Mutation_p.F21S	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	hypothetical protein LOC152992 isoform 2	413					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding				0						AAGACCCTTTTCCCTGATGTT	0.423												
NCAPG	64151	broad.mit.edu	37	4	17827008	17827008	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:17827008G>A	uc003gpp.2	+	11	1653	c.1477G>A	c.(1477-1479)GCT>ACT	p.A493T	NCAPG_uc011bxj.1_Missense_Mutation_p.A2T	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	chromosome condensation protein G	493					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			large_intestine(1)	1				STAD - Stomach adenocarcinoma(129;0.18)		CCCTTAGATGGCTGAAATAAA	0.313												
PPARGC1A	10891	broad.mit.edu	37	4	23830112	23830112	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:23830112G>A	uc003gqs.2	-	5	788	c.668C>T	c.(667-669)ACC>ATC	p.T223I	PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor	223					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			ovary(2)|lung(2)|kidney(2)|skin(2)	8		Breast(46;0.0503)				TGTGGGTTTGGTGTGAGGAGG	0.483												
LGI2	55203	broad.mit.edu	37	4	25020788	25020788	+	Splice_Site	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:25020788C>T	uc003grf.2	-	5	584	c.485_splice	c.e5+1	p.L162_splice		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2							extracellular region					0		Breast(46;0.173)				TCATTACTTACAGTTCAATCA	0.363												
SLC34A2	10568	broad.mit.edu	37	4	25677886	25677886	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:25677886G>A	uc003grr.2	+	13	1669	c.1588G>A	c.(1588-1590)GTC>ATC	p.V530I	SLC34A2_uc003grs.2_Missense_Mutation_p.V529I|SLC34A2_uc010iev.2_Missense_Mutation_p.V529I	NM_006424	NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (sodium phosphate),	530	Helical; Name=M7; (Potential).				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			skin(3)|ovary(1)|kidney(1)	5		Breast(46;0.0503)				CTGGTTCGCCGTCTTCTACCT	0.622												
PCDH7	5099	broad.mit.edu	37	4	30724462	30724462	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:30724462C>T	uc003gsk.1	+	1	2426	c.1418C>T	c.(1417-1419)GCC>GTC	p.A473V	PCDH7_uc011bxw.1_Missense_Mutation_p.A426V|PCDH7_uc011bxx.1_Missense_Mutation_p.A473V	NM_002589	NP_002580	O60245	PCDH7_HUMAN	protocadherin 7 isoform a precursor	473	Extracellular (Potential).|Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						CTCAAGCCAGCCAGCGACACC	0.622												
LIMCH1	22998	broad.mit.edu	37	4	41621327	41621327	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:41621327T>C	uc003gvu.3	+	8	859	c.805T>C	c.(805-807)TAC>CAC	p.Y269H	LIMCH1_uc003gvt.1_Missense_Mutation_p.Y110H|LIMCH1_uc003gvv.3_Missense_Mutation_p.Y269H|LIMCH1_uc003gvw.3_Missense_Mutation_p.Y269H|LIMCH1_uc003gvx.3_Missense_Mutation_p.Y269H|LIMCH1_uc003gwe.3_Missense_Mutation_p.Y269H|LIMCH1_uc003gvy.3_Missense_Mutation_p.Y110H|LIMCH1_uc003gwa.3_Missense_Mutation_p.Y110H|LIMCH1_uc003gvz.3_Missense_Mutation_p.Y110H|LIMCH1_uc011byu.1_Missense_Mutation_p.Y115H|LIMCH1_uc003gwc.3_Missense_Mutation_p.Y115H|LIMCH1_uc003gwd.3_Missense_Mutation_p.Y115H|LIMCH1_uc011byv.1_Missense_Mutation_p.Y20H|LIMCH1_uc003gwb.1_Missense_Mutation_p.Y117H	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	269					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)|skin(1)	4						TTTTAACCAGTACCTCCCGAA	0.547												
RASL11B	65997	broad.mit.edu	37	4	53728795	53728795	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:53728795G>A	uc003gzt.2	+	1	301	c.121G>A	c.(121-123)GCC>ACC	p.A41T		NM_023940	NP_076429	Q9BPW5	RSLBB_HUMAN	RAS-like family 11 member B	41	Small GTPase-like.|GTP (By similarity).				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			central_nervous_system(1)	1			LUSC - Lung squamous cell carcinoma(32;0.0302)			CGTGGTGGGCGCCAGCGGCGT	0.721												
LPHN3	23284	broad.mit.edu	37	4	62453016	62453016	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:62453016C>A	uc010ihh.2	+	2	300	c.127C>A	c.(127-129)CTT>ATT	p.L43I	LPHN3_uc003hcq.3_Missense_Mutation_p.L43I|LPHN3_uc010ihg.1_Missense_Mutation_p.L111I	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	latrophilin 3 precursor	43	SUEL-type lectin.|Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						TCCTATAGAGCTTCGCTGTCC	0.478												
AFP	174	broad.mit.edu	37	4	74308075	74308075	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:74308075C>T	uc003hgz.1	+	5	592	c.545C>T	c.(544-546)GCT>GTT	p.A182V	AFP_uc003hha.1_Missense_Mutation_p.A182V|AFP_uc011cbg.1_5'UTR	NM_001134	NP_001125	P02771	FETA_HUMAN	alpha-fetoprotein precursor	182	Albumin 1.				transport		metal ion binding			ovary(1)	1	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTCTTTGGGCTGCTCGCTAT	0.378									Alpha-Fetoprotein_Hereditary_Persistence_of			
PRDM8	56978	broad.mit.edu	37	4	81123123	81123123	+	Silent	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:81123123C>A	uc010ijo.2	+	8	1346	c.507C>A	c.(505-507)CCC>CCA	p.P169P	PRDM8_uc003hmb.3_Silent_p.P169P|PRDM8_uc003hmc.3_Silent_p.P169P	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	169	C2H2-type 1; atypical.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1						TTGAGTTCCCCTATGTGGCGC	0.388											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SMARCAD1	56916	broad.mit.edu	37	4	95185970	95185970	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:95185970T>A	uc003htc.3	+	10	1649	c.1394T>A	c.(1393-1395)ATT>AAT	p.I465N	SMARCAD1_uc003htb.3_Missense_Mutation_p.I465N|SMARCAD1_uc003htd.3_Missense_Mutation_p.I465N|SMARCAD1_uc010ila.2_Missense_Mutation_p.I328N|SMARCAD1_uc011cdw.1_Missense_Mutation_p.I35N	NM_020159	NP_064544	Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated	465					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			skin(2)|ovary(1)|breast(1)	4				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TGTGAAGACATTTCAAATAAA	0.348												
ADH5	128	broad.mit.edu	37	4	100003128	100003128	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:100003128G>A	uc003hui.2	-	3	334	c.254C>T	c.(253-255)GCG>GTG	p.A85V	ADH5_uc003huk.1_Missense_Mutation_p.A85V|ADH5_uc003huj.2_5'UTR	NM_000671	NP_000662	P11766	ADHX_HUMAN	class III alcohol dehydrogenase, chi subunit	85					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	CTCCTTACCCGCCTTCAGCTT	0.408												
KIAA1109	84162	broad.mit.edu	37	4	123277081	123277081	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:123277081A>G	uc003ieh.2	+	81	14481	c.14436A>G	c.(14434-14436)TTA>TTG	p.L4812L	KIAA1109_uc003iem.2_Silent_p.L1168L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4812					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						TCTTTGCATTACCAAGGATGC	0.363												
BBS12	166379	broad.mit.edu	37	4	123664512	123664512	+	Missense_Mutation	SNP	G	G	A	rs145489987	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:123664512G>A	uc003ieu.2	+	2	1658	c.1465G>A	c.(1465-1467)GCA>ACA	p.A489T		NM_152618	NP_689831	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	489					cellular protein metabolic process	cilium	ATP binding			ovary(2)	2						CAACAGAATCGCAATCTTATT	0.438									Bardet-Biedl_syndrome			
FAT4	79633	broad.mit.edu	37	4	126241924	126241924	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:126241924G>A	uc003ifj.3	+	1	4358	c.4358G>A	c.(4357-4359)GGT>GAT	p.G1453D		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	1453	Cadherin 14.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G1453G(1)		ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						GACATTAATGGTCAACTATCC	0.398												
FAT4	79633	broad.mit.edu	37	4	126370814	126370814	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:126370814C>T	uc003ifj.3	+	9	8643	c.8643C>T	c.(8641-8643)TGC>TGT	p.C2881C	FAT4_uc011cgp.1_Silent_p.C1179C|FAT4_uc003ifi.1_Silent_p.C359C	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	2881	Cadherin 28.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						ATTTAGATTGCCCTGAACTTA	0.373												
PLK4	10733	broad.mit.edu	37	4	128808580	128808580	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:128808580C>T	uc003ifo.2	+	6	1633	c.1388C>T	c.(1387-1389)CCT>CTT	p.P463L	PLK4_uc011cgs.1_Missense_Mutation_p.P431L|PLK4_uc011cgt.1_Missense_Mutation_p.P422L	NM_014264	NP_055079	O00444	PLK4_HUMAN	polo-like kinase 4	463					G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0						GGAAAAACTCCTTTTCCATTT	0.328												
PHF17	79960	broad.mit.edu	37	4	129773269	129773269	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:129773269G>A	uc003igk.2	+	6	822	c.542G>A	c.(541-543)CGA>CAA	p.R181Q	PHF17_uc003igj.2_Missense_Mutation_p.R181Q|PHF17_uc003igl.2_Missense_Mutation_p.R169Q|PHF17_uc011cgy.1_Missense_Mutation_p.R181Q|PHF17_uc003igm.2_Missense_Mutation_p.R181Q	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform	181					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding				0						TTTGAGCAGCGATGCTACGAC	0.428												
PCDH10	57575	broad.mit.edu	37	4	134072703	134072703	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:134072703G>A	uc003iha.2	+	1	2234	c.1408G>A	c.(1408-1410)GTG>ATG	p.V470M	uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V470M	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	protocadherin 10 isoform 1 precursor	470	Extracellular (Potential).|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2				LUSC - Lung squamous cell carcinoma(193;0.227)		GGTCTACGACGTGTATGTGAC	0.617												
SLC10A7	84068	broad.mit.edu	37	4	147363969	147363969	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:147363969G>A	uc010ioz.2	-	5	655	c.401C>T	c.(400-402)GCT>GTT	p.A134V	SLC10A7_uc003ikr.2_Missense_Mutation_p.A134V|SLC10A7_uc010ipa.2_Intron|SLC10A7_uc003iks.2_RNA|SLC10A7_uc003ikt.2_Missense_Mutation_p.A134V	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	solute carrier family 10 (sodium/bile acid	134	Helical; (Potential).					integral to membrane	bile acid:sodium symporter activity				0	all_hematologic(180;0.151)					AAATATTGCAGCTGCCTATGA	0.299												
NR3C2	4306	broad.mit.edu	37	4	149357499	149357499	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:149357499C>T	uc003ilj.3	-	2	848	c.514G>A	c.(514-516)GTG>ATG	p.V172M	NR3C2_uc003ilk.3_Missense_Mutation_p.V172M|NR3C2_uc010iph.2_RNA	NM_000901	NP_000892	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	172	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			large_intestine(1)	1	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CCACCATTCACGGAGCTCCCA	0.483												
FGA	2243	broad.mit.edu	37	4	155505317	155505317	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:155505317T>C	uc003iod.1	-	6	2618	c.2560A>G	c.(2560-2562)AGG>GGG	p.R854G		NM_000508	NP_000499	P02671	FIBA_HUMAN	fibrinogen, alpha polypeptide isoform alpha-E	854	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			ovary(2)|breast(1)	3	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CGAACAGCCCTGAGGGAATAA	0.483												
GRIA2	2891	broad.mit.edu	37	4	158281222	158281222	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:158281222G>A	uc003ipm.3	+	13	2677	c.2218G>A	c.(2218-2220)GAC>AAC	p.D740N	GRIA2_uc011cit.1_Missense_Mutation_p.D693N|GRIA2_uc003ipl.3_Missense_Mutation_p.D740N|GRIA2_uc003ipk.3_Missense_Mutation_p.D693N|GRIA2_uc010iqh.1_RNA|GRIA2_uc011ciu.1_Missense_Mutation_p.D50N|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_Missense_Mutation_p.D50N|GRIA2_uc011ciy.1_Missense_Mutation_p.D50N|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	740	Extracellular (Potential).				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			central_nervous_system(3)|ovary(1)	4	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	GAAGCCTTGCGACACCATGAA	0.478												
TMEM144	55314	broad.mit.edu	37	4	159140505	159140505	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:159140505C>T	uc003ipx.2	+	6	896	c.376C>T	c.(376-378)CTG>TTG	p.L126L	TMEM144_uc010iqi.2_RNA	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	126	Helical; (Potential).					integral to membrane					0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		ATCAAATCCGCTGCTAAATTA	0.353												
TKTL2	84076	broad.mit.edu	37	4	164394290	164394290	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:164394290G>A	uc003iqp.3	-	1	758	c.597C>T	c.(595-597)GGC>GGT	p.G199G		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	199						cytoplasm	metal ion binding|transketolase activity			ovary(2)|skin(2)|pancreas(1)	5	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGATGTCTGCGCCATGCTCAA	0.517												
TLL1	7092	broad.mit.edu	37	4	166915567	166915567	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:166915567A>G	uc003irh.1	+	4	1043	c.396A>G	c.(394-396)GTA>GTG	p.V132V	TLL1_uc011cjn.1_Silent_p.V132V|TLL1_uc011cjo.1_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	tolloid-like 1 precursor	132					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGGAAAAGTACCTCTACAAT	0.408												
GALNTL6	442117	broad.mit.edu	37	4	172735857	172735857	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:172735857C>T	uc003isv.2	+	2	862	c.126C>T	c.(124-126)CCC>CCT	p.P42P		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	N-acetylgalactosaminyltransferase-like 6	42	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|ovary(1)|skin(1)	4						CAGCGGAGCCCGGGGAGCAGC	0.547												
KLKB1	3818	broad.mit.edu	37	4	187155141	187155141	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:187155141C>T	uc003iyy.2	+	4	328	c.257C>T	c.(256-258)ACC>ATC	p.T86I	KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.T48I	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	86	Apple 1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GTTACAGGAACCCTGCCAAAA	0.358												
MTNR1A	4543	broad.mit.edu	37	4	187455439	187455439	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:187455439G>A	uc003izd.1	-	2	475	c.457C>T	c.(457-459)CTC>TTC	p.L153F		NM_005958	NP_005949	P48039	MTR1A_HUMAN	melatonin receptor 1A	153	Helical; Name=4; (Potential).				circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	AGCGTCAGGAGCCATATGAGG	0.602												
FAT1	2195	broad.mit.edu	37	4	187530381	187530381	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:187530381C>T	uc003izf.2	-	16	10350	c.10162G>A	c.(10162-10164)GTC>ATC	p.V3388I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3388	Extracellular (Potential).|Cadherin 31.				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						TCTCCCCTGACGGGGTCAATT	0.443										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187557246	187557246	+	Silent	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:187557246G>T	uc003izf.2	-	6	4304	c.4116C>A	c.(4114-4116)CCC>CCA	p.P1372P		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1372	Extracellular (Potential).|Cadherin 12.				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						TGTGAGCAACGGGGTCACTTT	0.458										HNSCC(5;0.00058)		
FAT1	2195	broad.mit.edu	37	4	187557926	187557926	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:187557926C>T	uc003izf.2	-	5	3973	c.3785G>A	c.(3784-3786)CGA>CAA	p.R1262Q		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1262	Extracellular (Potential).|Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			ovary(10)|central_nervous_system(1)|pancreas(1)	12						ATTTCTTTCTCGGTCTGGCTT	0.478										HNSCC(5;0.00058)		
SLC9A3	6550	broad.mit.edu	37	5	485314	485314	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:485314C>T	uc003jbe.2	-	4	820	c.708G>A	c.(706-708)GCG>GCA	p.A236A	SLC9A3_uc011clx.1_Silent_p.A236A	NM_004174	NP_004165	P48764	SL9A3_HUMAN	solute carrier family 9 (sodium/hydrogen	236	Extracellular (Potential).					cell surface|integral to membrane	sodium:hydrogen antiporter activity				0			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CACCTCCCAGCGCCACGAAAG	0.632												
TPPP	11076	broad.mit.edu	37	5	666085	666085	+	Silent	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:666085C>A	uc003jbg.3	-	2	1183	c.465G>T	c.(463-465)ACG>ACT	p.T155T	TPPP_uc003jbh.3_Silent_p.T155T	NM_007030	NP_008961	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	155					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding				0		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		cccTGCTCACCGTCACCCCTG	0.373												
IRX2	153572	broad.mit.edu	37	5	2749036	2749036	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:2749036G>A	uc003jda.2	-	3	1028	c.786C>T	c.(784-786)GAC>GAT	p.D262D	IRX2_uc003jdb.2_Silent_p.D262D	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	262						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		CGTCCTCCAGGTCGTCATACT	0.706												
IRX2	153572	broad.mit.edu	37	5	2749798	2749798	+	Missense_Mutation	SNP	C	C	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:2749798C>G	uc003jda.2	-	2	595	c.353G>C	c.(352-354)CGC>CCC	p.R118P	C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.R118P	NM_001134222	NP_001127694	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	118	Homeobox; TALE-type.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1				GBM - Glioblastoma multiforme(108;0.204)		GGCGTTCTTGCGGTACGCGGG	0.672												
ADCY2	108	broad.mit.edu	37	5	7727281	7727281	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:7727281G>A	uc003jdz.1	+	14	1845	c.1778G>A	c.(1777-1779)CGG>CAG	p.R593Q	ADCY2_uc011cmo.1_Missense_Mutation_p.R413Q	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	adenylate cyclase 2	593	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			ovary(5)|pancreas(1)|skin(1)	7						CCTCAGTACCGGGCCACGGCA	0.507												
FAM105B	90268	broad.mit.edu	37	5	14693056	14693056	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:14693056C>T	uc003jfk.2	+	7	1110	c.958C>T	c.(958-960)CCC>TCC	p.P320S		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	hypothetical protein LOC90268	320										ovary(2)	2	Lung NSC(4;0.00696)					CACAGTCTACCCCACCGACCC	0.537												
PDZD2	23037	broad.mit.edu	37	5	32073990	32073990	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:32073990C>T	uc003jhl.2	+	18	3166	c.2778C>T	c.(2776-2778)AGC>AGT	p.S926S	PDZD2_uc003jhm.2_Silent_p.S926S|PDZD2_uc011cnx.1_Silent_p.S752S	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	926					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						CTCTTGGGAGCCATCGGGCTT	0.587												
GOLPH3	64083	broad.mit.edu	37	5	32126337	32126337	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:32126337A>G	uc003jhp.1	-	4	1163	c.878T>C	c.(877-879)GTG>GCG	p.V293A		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3	293					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			ovary(1)	1						GAACGCCGCCACCACCGCCCA	0.483												
ZFR	51663	broad.mit.edu	37	5	32407029	32407029	+	Silent	SNP	A	A	T	rs139769264		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:32407029A>T	uc003jhr.1	-	6	962	c.882T>A	c.(880-882)GCT>GCA	p.A294A	ZFR_uc010iun.1_Silent_p.A294A	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.294												
LIFR	3977	broad.mit.edu	37	5	38504084	38504084	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:38504084T>G	uc010ive.1	-	10	1763	c.1431A>C	c.(1429-1431)CAA>CAC	p.Q477H	LIFR_uc003jli.2_Missense_Mutation_p.Q477H	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	477	Extracellular (Potential).|Fibronectin type-III 3.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)					TTACCTGCTCTTGTACTGAAT	0.284			T	PLAG1	salivary adenoma							
HEATR7B2	133558	broad.mit.edu	37	5	41000384	41000384	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:41000384G>A	uc003jmj.3	-	39	4910	c.4420C>T	c.(4420-4422)CGT>TGT	p.R1474C	HEATR7B2_uc003jmi.3_Missense_Mutation_p.R1029C	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	HEAT repeat family member 7B2	1474							binding			ovary(6)|central_nervous_system(2)	8						TCAAGGAGACGGTCTAATACC	0.502												
C5orf39	389289	broad.mit.edu	37	5	43039978	43039978	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:43039978A>G	uc003jnf.2	-	1	470	c.171T>C	c.(169-171)CTT>CTC	p.L57L	C5orf39_uc010ivj.1_RNA|LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	NM_001014279	NP_001014301	Q3ZCQ2	AX2R_HUMAN	annexin II receptor	57							receptor activity				0						AAGGGCTGGAAAGCAGTCCCA	0.552											OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KIF2A	3796	broad.mit.edu	37	5	61669536	61669536	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:61669536C>A	uc003jsy.3	+	17	1980	c.1669C>A	c.(1669-1671)CCA>ACA	p.P557T	KIF2A_uc003jsz.3_Missense_Mutation_p.P595T|KIF2A_uc010iwp.2_Missense_Mutation_p.P538T|KIF2A_uc003jsx.3_Missense_Mutation_p.P537T|KIF2A_uc010iwq.2_Missense_Mutation_p.P360T	NM_004520	NP_004511	O00139	KIF2A_HUMAN	kinesin heavy chain member 2 isoform 1	557					blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development	centrosome|cytosol|microtubule|spindle pole	ATP binding|microtubule motor activity|protein binding				0		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		GACTGTAGATCCAACTGCTGC	0.423												
IPO11	51194	broad.mit.edu	37	5	61821993	61821993	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:61821993C>A	uc003jtc.2	+	21	2111	c.1921C>A	c.(1921-1923)CTG>ATG	p.L641M	IPO11_uc011cqr.1_Missense_Mutation_p.L681M|IPO11_uc003jtd.1_RNA|IPO11_uc010iwr.2_Intron	NM_016338	NP_057422	Q9UI26	IPO11_HUMAN	Ran binding protein 11 isoform 2	641	HEAT 9.					cytoplasm|nucleus	protein binding			lung(2)|skin(2)	4		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CAGCAAGAACCTGTACCCTTT	0.393												
CWC27	10283	broad.mit.edu	37	5	64267563	64267563	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:64267563A>G	uc003jtn.1	+	12	1295	c.1076A>G	c.(1075-1077)GAA>GGA	p.E359G	CWC27_uc010iwt.1_Missense_Mutation_p.E359G	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	serologically defined colon cancer antigen 10	359	Potential.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity				0						GCTGTTGCCGAATACAGAAGA	0.388												
CENPH	64946	broad.mit.edu	37	5	68487667	68487667	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:68487667G>A	uc003jvp.2	+	2	267	c.180G>A	c.(178-180)ATG>ATA	p.M60I	uc003jvn.1_5'Flank|uc003jvo.3_5'Flank|CENPH_uc010ixc.2_Missense_Mutation_p.M60I	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	centromere protein H	60	Potential.				cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			large_intestine(1)	1		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		ATAAATCAATGGTTGATGCAA	0.199												
GFM2	84340	broad.mit.edu	37	5	74041649	74041649	+	Missense_Mutation	SNP	C	C	T	rs146259893	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:74041649C>T	uc003kdh.1	-	10	1007	c.703G>A	c.(703-705)GTG>ATG	p.V235M	GFM2_uc003kdi.1_Missense_Mutation_p.V235M|GFM2_uc010izj.1_Missense_Mutation_p.V267M|GFM2_uc010izk.1_RNA|GFM2_uc003kdj.1_Missense_Mutation_p.V235M|GFM2_uc010izl.1_Missense_Mutation_p.V193M	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	mitochondrial elongation factor G2 isoform 1	235					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity				0		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		ACATCCACCACTCCTTTGAAA	0.358												
VCAN	1462	broad.mit.edu	37	5	82815900	82815900	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:82815900C>T	uc003kii.3	+	7	2131	c.1775C>T	c.(1774-1776)ACT>ATT	p.T592I	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.T592I|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	592	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACCATCCACACTCATTTAGAA	0.423												
VCAN	1462	broad.mit.edu	37	5	82832916	82832916	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:82832916A>G	uc003kii.3	+	8	4450	c.4094A>G	c.(4093-4095)CAT>CGT	p.H1365R	VCAN_uc003kij.3_Missense_Mutation_p.H378R|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.H29R	NM_004385	NP_004376	P13611	CSPG2_HUMAN	versican isoform 1 precursor	1365	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(7)|skin(6)|lung(2)|central_nervous_system(1)	16		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GATCCAGTGCATGATCTAATG	0.308												
ELL2	22936	broad.mit.edu	37	5	95236414	95236414	+	Missense_Mutation	SNP	C	C	T	rs150945042	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:95236414C>T	uc003klr.3	-	7	1287	c.937G>A	c.(937-939)GCT>ACT	p.A313T		NM_012081	NP_036213	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	313					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				central_nervous_system(1)	1		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GAAGATACAGCGTCTCTACTA	0.269												
ERAP1	51752	broad.mit.edu	37	5	96126301	96126301	+	Missense_Mutation	SNP	C	C	T	rs150674566		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:96126301C>T	uc003kmm.2	-	9	1713	c.1366G>A	c.(1366-1368)GCA>ACA	p.A456T	ERAP1_uc003kml.2_Missense_Mutation_p.A456T|ERAP1_uc010jbm.1_Missense_Mutation_p.A268T|ERAP1_uc003kmn.2_Missense_Mutation_p.A456T	NM_001040458	NP_001035548	Q9NZ08	ERAP1_HUMAN	type 1 tumor necrosis factor receptor shedding	456	Lumenal (Potential).				angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		CTTTTAAATGCGTCAGCACTA	0.348												
ST8SIA4	7903	broad.mit.edu	37	5	100191819	100191819	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:100191819T>C	uc003knk.2	-	4	1113	c.785A>G	c.(784-786)CAT>CGT	p.H262R		NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	262	Lumenal (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		TCTGACAGCATGAATAAGTCT	0.413												
ST8SIA4	7903	broad.mit.edu	37	5	100238656	100238656	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:100238656G>A	uc003knk.2	-	1	332	c.4C>T	c.(4-6)CGC>TGC	p.R2C	ST8SIA4_uc003knl.2_Missense_Mutation_p.R2C	NM_005668	NP_005659	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide	2	Cytoplasmic (Potential).				axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			large_intestine(1)|central_nervous_system(1)	2		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		CTAATGGAGCGCATCTTGGGT	0.507												
KCNN2	3781	broad.mit.edu	37	5	113822861	113822861	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:113822861C>T	uc003kqo.2	+	6	1826	c.1369C>T	c.(1369-1371)CAA>TAA	p.Q457*	KCNN2_uc003kqp.2_Nonsense_Mutation_p.Q109*|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	small conductance calcium-activated potassium	457	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			ovary(2)	2		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		AAAATTCCTGCAAGCTATTCA	0.323												
GDF9	2661	broad.mit.edu	37	5	132198189	132198189	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:132198189A>C	uc003kxz.1	-	2	709	c.457T>G	c.(457-459)TTA>GTA	p.L153V	GDF9_uc011cxj.1_Missense_Mutation_p.L65V	NM_005260	NP_005251	O60383	GDF9_HUMAN	growth differentiation factor 9 precursor	153					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			skin(1)	1		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACTTGAGTAAGTGTTCAACG	0.383												
C5orf15	56951	broad.mit.edu	37	5	133295584	133295584	+	Silent	SNP	A	A	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:133295584A>T	uc003kyo.2	-	2	398	c.267T>A	c.(265-267)CCT>CCA	p.P89P		NM_020199	NP_064584	Q8NC54	KCT2_HUMAN	keratinocytes associated transmembrane protein 2	89	Extracellular (Potential).					integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TCGTCGTGGGAGGGAGGGTGG	0.463												
CAMLG	819	broad.mit.edu	37	5	134077026	134077026	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:134077026G>A	uc003kzt.2	+	2	551	c.446G>A	c.(445-447)CGC>CAC	p.R149H	CAMLG_uc003kzu.2_Intron	NM_001745	NP_001736	P49069	CAMLG_HUMAN	calcium modulating ligand	149	Cytoplasmic (Potential).				defense response	endoplasmic reticulum|integral to membrane					0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	AGGGGTTCCCGCCATGGCCTA	0.507												
SPOCK1	6695	broad.mit.edu	37	5	136834106	136834106	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:136834106C>T	uc003lbo.2	-	1	333	c.142G>A	c.(142-144)GTC>ATC	p.V48I	SPOCK1_uc003lbp.2_Missense_Mutation_p.V48I	NM_004598	NP_004589	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains	48					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TACTGGGAGACGGTGCTCAGC	0.682												
SLC4A9	83697	broad.mit.edu	37	5	139747324	139747324	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:139747324T>C	uc003lfm.2	+	16	2302	c.2267T>C	c.(2266-2268)CTG>CCG	p.L756P	SLC4A9_uc003lfj.2_Missense_Mutation_p.L732P|SLC4A9_uc011czg.1_Missense_Mutation_p.L669P|SLC4A9_uc003lfl.2_Missense_Mutation_p.L732P|SLC4A9_uc003lfk.2_Missense_Mutation_p.L718P	NM_031467	NP_113655	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate	756	Membrane (anion exchange).					integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			large_intestine(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTTCCACCTGGACCTCTTC	0.587												
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139887548	139887548	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:139887548C>A	uc003lfs.1	+	20	3854	c.3730C>A	c.(3730-3732)CTG>ATG	p.L1244M	ANKHD1_uc003lfq.1_Missense_Mutation_p.L1263M|ANKHD1_uc003lfr.2_Missense_Mutation_p.L1244M|ANKHD1_uc003lft.1_Missense_Mutation_p.L455M|ANKHD1_uc003lfu.1_Missense_Mutation_p.L724M|ANKHD1_uc003lfv.1_Missense_Mutation_p.L321M|ANKHD1-EIF4EBP3_uc011czh.1_5'Flank|ANKHD1_uc003lfw.2_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	ANKHD1-EIF4EBP3 protein	1244						cytoplasm|nucleus	RNA binding			ovary(6)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTTTGCTTCTGGACCGAAA	0.433												
PCDHA3	56145	broad.mit.edu	37	5	140182444	140182444	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140182444C>T	uc003lhf.2	+	1	1662	c.1662C>T	c.(1660-1662)TTC>TTT	p.F554F	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.F554F	NM_018906	NP_061729	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3 isoform 1 precursor	554	Cadherin 5.|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)			TGCAGGTGTTCGTGCTGGACG	0.687												
PCDHA12	56137	broad.mit.edu	37	5	140255709	140255709	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140255709G>A	uc003lic.2	+	1	779	c.652G>A	c.(652-654)GGT>AGT	p.G218S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Missense_Mutation_p.G218S	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	218	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCGATGGCGGTAAACCAGA	0.398												
PCDHAC2	56134	broad.mit.edu	37	5	140389267	140389267	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140389267C>A	uc003lii.2	+	4	3009	c.2769C>A	c.(2767-2769)AGC>AGA	p.S923R	PCDHA1_uc003lha.2_Missense_Mutation_p.S602R|PCDHA1_uc003lhb.2_Missense_Mutation_p.S866R|PCDHA2_uc003lhd.2_Missense_Mutation_p.S864R|PCDHA3_uc003lhf.2_Missense_Mutation_p.S866R|PCDHA4_uc003lhi.2_Missense_Mutation_p.S863R|PCDHA4_uc003lhh.1_Missense_Mutation_p.S863R|PCDHA5_uc003lhk.1_Missense_Mutation_p.S852R|PCDHA5_uc003lhl.2_Missense_Mutation_p.S852R|PCDHA6_uc003lhn.2_Missense_Mutation_p.S602R|PCDHA6_uc003lho.2_Missense_Mutation_p.S866R|PCDHA7_uc003lhq.2_Missense_Mutation_p.S853R|PCDHA8_uc003lhs.2_Missense_Mutation_p.S866R|PCDHA9_uc003lhu.2_Missense_Mutation_p.S866R|PCDHA10_uc003lhw.2_Missense_Mutation_p.S601R|PCDHA10_uc003lhx.2_Missense_Mutation_p.S864R|PCDHA11_uc003lia.2_Missense_Mutation_p.S865R|PCDHA12_uc003lic.2_Missense_Mutation_p.S857R|PCDHA13_uc003lie.1_Missense_Mutation_p.S866R|PCDHA13_uc003lif.2_Missense_Mutation_p.S866R|PCDHAC1_uc003lih.2_Missense_Mutation_p.S879R	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2 isoform 1	923	4 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGCAACAGCTGGACCTTTA	0.502												
PCDHB9	56127	broad.mit.edu	37	5	140569061	140569061	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140569061C>T	uc003liw.1	+	3	2170	c.2170C>T	c.(2170-2172)CGC>TGC	p.R724C	PCDHB10_uc003lix.2_5'Flank	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	protocadherin beta 9 precursor	724	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGTGGGTCGCTGCTCGGT	0.667												
PCDHB12	56124	broad.mit.edu	37	5	140589598	140589598	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140589598A>C	uc003liz.2	+	1	1308	c.1119A>C	c.(1117-1119)AGA>AGC	p.R373S	PCDHB12_uc011dak.1_Missense_Mutation_p.R36S	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	373	Extracellular (Potential).|Cadherin 4.				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)			TACGAGACAGAGACTCTGGGG	0.433												
PCDHB13	56123	broad.mit.edu	37	5	140594909	140594909	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140594909C>T	uc003lja.1	+	1	1401	c.1214C>T	c.(1213-1215)ACG>ATG	p.T405M		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13 precursor	405	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCTACTAACGGAGAGACCA	0.453												
PCDHGA7	56108	broad.mit.edu	37	5	140764513	140764513	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140764513G>A	uc003lka.1	+	1	2047	c.2047G>A	c.(2047-2049)GGT>AGT	p.G683S	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|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Missense_Mutation_p.G683S|PCDHGB4_uc011dav.1_5'Flank	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	683	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)			GCCCTCCGACGGTCCTTACAA	0.627												
PCDHGA7	56108	broad.mit.edu	37	5	140764701	140764701	+	Silent	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140764701G>T	uc003lka.1	+	1	2235	c.2235G>T	c.(2233-2235)GGG>GGT	p.G745G	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|PCDHGB4_uc003lkc.1_5'Flank|PCDHGA7_uc003ljz.1_Silent_p.G745G|PCDHGB4_uc011dav.1_5'Flank	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	745	Cytoplasmic (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)			GCATGGACGGGGTGCAGGCTT	0.617												
PCDHGA9	56107	broad.mit.edu	37	5	140784497	140784497	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140784497C>T	uc003lkh.1	+	1	1978	c.1978C>T	c.(1978-1980)CTC>TTC	p.L660F	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.L660F	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	660	Cadherin 6.|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)			CACTGTCACGCTCACAGTAGC	0.602												
PCDHGA11	56105	broad.mit.edu	37	5	140802769	140802769	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140802769G>A	uc003lkq.1	+	1	2233	c.1975G>A	c.(1975-1977)GTC>ATC	p.V659I	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.V659I|PCDHGA11_uc003lkp.1_Intron	NM_018914	NP_061737	Q9Y5H2	PCDGB_HUMAN	protocadherin gamma subfamily A, 11 isoform 1	659	Extracellular (Potential).|Cadherin 6.				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)			CTCGGCCACCGTCACGCTCAC	0.672												
ARAP3	64411	broad.mit.edu	37	5	141050954	141050954	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:141050954G>T	uc003llm.2	-	13	1946	c.1868C>A	c.(1867-1869)GCT>GAT	p.A623D	ARAP3_uc011dbe.1_Missense_Mutation_p.A285D|ARAP3_uc003lln.2_Missense_Mutation_p.A545D	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH	623					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			breast(5)|ovary(1)|large_intestine(1)	7						TCTTGCCACAGCTGCACACAG	0.587												
SH3RF2	153769	broad.mit.edu	37	5	145439617	145439617	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:145439617C>A	uc003lnt.2	+	9	1982	c.1744C>A	c.(1744-1746)CTC>ATC	p.L582I	SH3RF2_uc011dbl.1_Missense_Mutation_p.L582I|SH3RF2_uc011dbm.1_Missense_Mutation_p.L67I|SH3RF2_uc003lnu.2_Missense_Mutation_p.L73I|SH3RF2_uc011dbn.1_Missense_Mutation_p.L73I|SH3RF2_uc011dbo.1_Missense_Mutation_p.L39I	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	582							ligase activity|protein phosphatase 1 binding|zinc ion binding			ovary(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGCCCGCCCTCACGTGCAT	0.627												
SH3TC2	79628	broad.mit.edu	37	5	148386498	148386498	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:148386498C>T	uc003lpu.2	-	16	3773	c.3621G>A	c.(3619-3621)CTG>CTA	p.L1207L	SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Silent_p.L851L|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Silent_p.L754L|SH3TC2_uc010jgx.2_Silent_p.L1200L	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1207							binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCATAGTACAGGGCCTCCT	0.552												
CAMK2A	815	broad.mit.edu	37	5	149602570	149602570	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:149602570G>A	uc003lru.2	-	17	1630	c.1415C>T	c.(1414-1416)GCG>GTG	p.A472V	CAMK2A_uc003lrs.2_Missense_Mutation_p.A183V|CAMK2A_uc003lrt.2_Missense_Mutation_p.A483V	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II	472					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)	1		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGGAGGGCGCCCCAGATCT	0.642												
GALNT10	55568	broad.mit.edu	37	5	153789220	153789220	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:153789220C>T	uc003lvh.2	+	9	1416	c.1284C>T	c.(1282-1284)AGC>AGT	p.S428S	GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Silent_p.S269S|uc003lvi.2_Intron|GALNT10_uc003lvj.2_Silent_p.S99S	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	GalNAc transferase 10 isoform a	428	Lumenal (Potential).					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			skin(2)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			agctccgcagctcccttaact	0.328												
NIPAL4	348938	broad.mit.edu	37	5	156899454	156899454	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:156899454T>C	uc003lwx.3	+	6	1003	c.887T>C	c.(886-888)ATC>ACC	p.I296T	ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.I277T	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	ichthyin protein	296	Helical; (Potential).					integral to membrane	receptor activity				0						TGCTCTGTGATCGGGGCCTTC	0.557											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
EBF1	1879	broad.mit.edu	37	5	158524021	158524021	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:158524021G>A	uc010jip.2	-	2	554	c.252C>T	c.(250-252)ATC>ATT	p.I84I	EBF1_uc011ddw.1_5'Flank|EBF1_uc011ddx.1_Silent_p.I84I|EBF1_uc003lxl.3_Silent_p.I84I	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	84					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGTCCTCTCGATCTCCACGG	0.627			T	HMGA2	lipoma							
RNF145	153830	broad.mit.edu	37	5	158601022	158601022	+	Missense_Mutation	SNP	G	G	A	rs139327325		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:158601022G>A	uc003lxp.2	-	6	1079	c.766C>T	c.(766-768)CGT>TGT	p.R256C	RNF145_uc011ddy.1_Missense_Mutation_p.R270C|RNF145_uc003lxo.1_Missense_Mutation_p.R284C|RNF145_uc011ddz.1_Missense_Mutation_p.R273C|RNF145_uc010jiq.1_Missense_Mutation_p.R286C|RNF145_uc011dea.1_Missense_Mutation_p.R272C	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	ring finger protein 145	256						integral to membrane	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCCTCTCACGTGATGCAGGC	0.368												
IL12B	3593	broad.mit.edu	37	5	158743807	158743807	+	Silent	SNP	C	C	A	rs144356274		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:158743807C>A	uc003lxr.1	-	7	915	c.873G>T	c.(871-873)ACG>ACT	p.T291T		NM_002187	NP_002178	P29460	IL12B_HUMAN	interleukin 12B precursor	291	Fibronectin type-III.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGTCTTGTCCGTGAAGACTC	0.517											OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLIT3	6586	broad.mit.edu	37	5	168187941	168187941	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:168187941C>T	uc003mab.2	-	16	2031	c.1611G>A	c.(1609-1611)CTG>CTA	p.L537L	SLIT3_uc010jjg.2_Silent_p.L537L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	537	LRR 12.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			ovary(3)|skin(1)	4	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATTCAGTCGCCTGTGTAGGA	0.532												
GABRP	2568	broad.mit.edu	37	5	170215633	170215633	+	Missense_Mutation	SNP	T	T	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:170215633T>A	uc003mau.2	+	2	212	c.14T>A	c.(13-15)CTC>CAC	p.L5H	GABRP_uc011dev.1_Missense_Mutation_p.L5H	NM_014211	NP_055026	O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	5						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(1)	1	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACTACAGCCTCCACTTGGCC	0.547												
NSD1	64324	broad.mit.edu	37	5	176673788	176673788	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:176673788A>G	uc003mfr.3	+	10	4626	c.4488A>G	c.(4486-4488)CCA>CCG	p.P1496P	NSD1_uc003mft.3_Silent_p.P1227P|NSD1_uc003mfs.1_Silent_p.P1393P|NSD1_uc011dfx.1_Silent_p.P1144P	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1496					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)		AAGAGATTCCAGGCTCAGAGG	0.428			T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)		
RGS14	10636	broad.mit.edu	37	5	176793200	176793200	+	Silent	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:176793200C>A	uc003mgf.2	+	3	272	c.90C>A	c.(88-90)CCC>CCA	p.P30P	RGS14_uc003mgg.1_5'Flank|RGS14_uc003mgh.2_5'Flank|RGS14_uc003mgi.2_5'Flank	NM_006480	NP_006471	O43566	RGS14_HUMAN	regulator of G-protein signalling 14	30					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			lung(1)	1	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	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)			CGACGGGGCCCCAGGGCCAGG	0.692												
ADAMTS2	9509	broad.mit.edu	37	5	178557097	178557097	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:178557097C>T	uc003mjw.2	-	16	2293	c.2293G>A	c.(2293-2295)GTC>ATC	p.V765I		NM_014244	NP_055059	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1	765	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		AGGTTCTTGACGGCTGAGAAT	0.567												
FLT4	2324	broad.mit.edu	37	5	180043407	180043407	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:180043407C>T	uc003mma.3	-	23	3258	c.3179G>A	c.(3178-3180)CGG>CAG	p.R1060Q	FLT4_uc003mlz.3_Missense_Mutation_p.R1060Q	NM_002020	NP_002011	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4 isoform 2	1060	Cytoplasmic (Potential).|Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			lung(7)|skin(2)|ovary(2)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	15	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTAGATGTCCCGGGCAAGGCC	0.612									Congenital_Hereditary_Lymphedema			
TRIM41	90933	broad.mit.edu	37	5	180661483	180661483	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:180661483G>A	uc003mne.1	+	6	2295	c.1601G>A	c.(1600-1602)CGC>CAC	p.R534H	TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Intron|TRIM41_uc003mnf.1_Intron|TRIM41_uc003mng.1_Missense_Mutation_p.R114H	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	tripartite motif-containing 41 isoform 1	534	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding				0	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCATCGCCGCCGCCGGCTC	0.667												
HUS1B	135458	broad.mit.edu	37	6	656464	656464	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:656464G>A	uc003mtg.2	-	1	501	c.481C>T	c.(481-483)CGC>TGC	p.R161C	EXOC2_uc003mtd.2_Intron|EXOC2_uc003mte.2_Intron|EXOC2_uc011dho.1_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint protein B	161											0	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GTCCTCCAGCGCGGCAGGCGG	0.667												
C6orf146	222826	broad.mit.edu	37	6	4069468	4069468	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:4069468A>G	uc003mvx.2	-	7	1329	c.989T>C	c.(988-990)GTG>GCG	p.V330A	C6orf146_uc010jnq.1_Intron|C6orf146_uc003mvy.2_Missense_Mutation_p.V267A	NM_173563	NP_775834	Q8IXS0	CF146_HUMAN	hypothetical protein LOC222826	330										ovary(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)				TGGCTGTCTCACTTTTGGTGT	0.393												
RIOK1	83732	broad.mit.edu	37	6	7393491	7393491	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:7393491A>G	uc003mxn.2	+	2	405	c.231A>G	c.(229-231)GGA>GGG	p.G77G	RIOK1_uc003mxm.1_5'UTR	NM_031480	NP_113668	Q9BRS2	RIOK1_HUMAN	RIO kinase 1 isoform 1	77							ATP binding|protein serine/threonine kinase activity			ovary(2)|stomach(1)|skin(1)	4	Ovarian(93;0.0418)					AAGGAGTTGGAAAACTCGCCA	0.289												
DSP	1832	broad.mit.edu	37	6	7583718	7583718	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:7583718C>T	uc003mxp.1	+	24	6502	c.6223C>T	c.(6223-6225)CGG>TGG	p.R2075W	DSP_uc003mxq.1_Missense_Mutation_p.R1476W	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2075	Plectin 2.|Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGCCATAGCTCGGGACCTCAT	0.483												
DSP	1832	broad.mit.edu	37	6	7585144	7585144	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:7585144G>T	uc003mxp.1	+	24	7928	c.7649G>T	c.(7648-7650)GGC>GTC	p.G2550V	DSP_uc003mxq.1_Missense_Mutation_p.G1951V	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	2550	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			central_nervous_system(6)|ovary(2)|skin(1)	9	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACCGATCCGGCAGCCTCAGC	0.483												
MAK	4117	broad.mit.edu	37	6	10764752	10764752	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:10764752C>T	uc003mzl.2	-	13	2034	c.1805G>A	c.(1804-1806)CGT>CAT	p.R602H	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Missense_Mutation_p.R602H	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	602					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GGGCTGTGCACGGTTCACAAT	0.478												
MAK	4117	broad.mit.edu	37	6	10796273	10796273	+	Silent	SNP	C	C	T	rs141174473	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:10796273C>T	uc003mzl.2	-	8	1330	c.1101G>A	c.(1099-1101)CCG>CCA	p.P367P	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Silent_p.P367P|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	367	Glu/Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|skin(1)	3	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GCGTTTGTGGCGGTTTCTCCT	0.498												
ERVFRDE1	405754	broad.mit.edu	37	6	11105044	11105044	+	Missense_Mutation	SNP	C	C	T	rs140934168		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:11105044C>T	uc003mzt.2	-	2	870	c.500G>A	c.(499-501)CGC>CAC	p.R167H	LOC221710_uc003mzr.2_Intron|LOC221710_uc011dio.1_Intron	NM_207582	NP_997465	P60508	EFRD1_HUMAN	syncytin 2	167	Extracellular (Potential).					integral to membrane|plasma membrane|virion					0						TGGTTGATGGCGGAATTGGTT	0.443												
CD83	9308	broad.mit.edu	37	6	14133942	14133942	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:14133942C>T	uc003nbi.2	+	4	623	c.445C>T	c.(445-447)CTG>TTG	p.L149L	CD83_uc003nbh.2_Silent_p.L149L	NM_004233	NP_004224	Q01151	CD83_HUMAN	CD83 antigen isoform a	149	Helical; (Potential).				defense response|humoral immune response|signal transduction	integral to plasma membrane					0	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TGTCCTGCTGCTGGCTCTGGT	0.378												
ATXN1	6310	broad.mit.edu	37	6	16328505	16328505	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:16328505G>A	uc003nbt.2	-	8	1008	c.37C>T	c.(37-39)CCT>TCT	p.P13S	ATXN1_uc010jpi.2_Missense_Mutation_p.P13S|ATXN1_uc010jpj.1_Intron	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	13					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			skin(3)|central_nervous_system(1)	4	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCTTGGGAGGCAGGCATTCG	0.602												
ZNF165	7718	broad.mit.edu	37	6	28056560	28056560	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:28056560A>G	uc003nkg.2	+	5	1854	c.770A>G	c.(769-771)AAA>AGA	p.K257R	ZNF165_uc003nkh.2_Missense_Mutation_p.K257R|ZNF165_uc003nki.3_Missense_Mutation_p.K257R|ZSCAN12P1_uc003nkj.3_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	zinc finger protein 165	257					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0						GGTTTTGGTAAAATCCTCACC	0.428												
TRIM26	7726	broad.mit.edu	37	6	30166872	30166872	+	Silent	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:30166872C>A	uc003npr.2	-	3	218	c.9G>T	c.(7-9)ACG>ACT	p.T3T	TRIM26_uc003nps.2_Silent_p.T3T|TRIM26_uc010jry.2_5'UTR|TRIM26_uc003npt.2_Silent_p.T3T|TRIM26_uc003npu.1_Silent_p.T3T	NM_003449	NP_003440	Q12899	TRI26_HUMAN	tripartite motif-containing 26	3							DNA binding|zinc ion binding			ovary(2)|lung(1)	3						GTGGGGCTGACGTGGCCATGG	0.557												
PPP1R10	5514	broad.mit.edu	37	6	30570240	30570240	+	Missense_Mutation	SNP	C	C	T	rs142321584		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:30570240C>T	uc003nqn.1	-	19	2738	c.2186G>A	c.(2185-2187)CGC>CAC	p.R729H	PPP1R10_uc010jsc.1_Missense_Mutation_p.R383H	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	729	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			ovary(2)|lung(1)|kidney(1)	4						TCCTCCAGAGCGACCTCCTCT	0.597												
HSPA1L	3305	broad.mit.edu	37	6	31779132	31779132	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:31779132T>C	uc003nxh.2	-	2	801	c.618A>G	c.(616-618)ACA>ACG	p.T206T	HSPA1L_uc010jte.2_Silent_p.T206T	NM_005527	NP_005518	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	206					response to unfolded protein		ATP binding			ovary(3)|pleura(1)|kidney(1)|skin(1)	6						ACACATCAAATGTGCCTCCAC	0.488												
CYP21A2	1589	broad.mit.edu	37	6	31975180	31975180	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:31975180C>T	uc010jtp.2	+	8	991	c.873C>T	c.(871-873)ATC>ATT	p.I291I	CYP21A2_uc011dpb.1_Silent_p.I261I			P08686	CP21A_HUMAN	SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2; SubName: Full=Cytochrome P450 21-hydroxylase; SubName: Full=Cytochrome P450, family 21, subfamily A, polypeptide 2, isoform CRA_b; SubName: Full=DJ34F7.3 (Cytochrome P450, subfamily XXIA (Steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 (CYP21, P450c21B)); SubName: Full=cDNA, FLJ95495, Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2(CYP21A2), mRNA;	290					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						ACCTCCTGATCGGTGGCACTG	0.597												
CYP21A2	1589	broad.mit.edu	37	6	32007916	32007916	+	Silent	SNP	C	C	T	rs143877763	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:32007916C>T	uc003nze.1	+	7	991	c.873C>T	c.(871-873)ATC>ATT	p.I291I	CYP21A2_uc003nzf.1_Silent_p.I261I	NM_000500	NP_000491	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A,	290					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding				0						ACCTCCTGATCGGTGGCACTG	0.607												
PBX2	5089	broad.mit.edu	37	6	32155040	32155040	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:32155040G>T	uc003oav.1	-	6	1274	c.1003C>A	c.(1003-1005)CCG>ACG	p.P335T	PBX2_uc003oaw.2_Missense_Mutation_p.P335T	NM_002586	NP_002577	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	335							transcription factor binding			ovary(1)	1						GGGGGTGTCGGGGAGCTGGTG	0.552												
BTNL2	56244	broad.mit.edu	37	6	32364033	32364033	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:32364033A>G	uc003obg.1	-	5	861	c.861T>C	c.(859-861)CGT>CGC	p.R287R	BTNL2_uc010jty.1_Silent_p.R10R|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Silent_p.R77R	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2	287	Extracellular (Potential).|Ig-like V-type 3.					integral to membrane				central_nervous_system(1)	1						CAGCAGGGTAACGGTGGGATC	0.557												
GRM4	2914	broad.mit.edu	37	6	34003601	34003601	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:34003601C>T	uc003oir.3	-	8	2456	c.2286G>A	c.(2284-2286)CTG>CTA	p.L762L	GRM4_uc011dsn.1_Silent_p.L715L|GRM4_uc010jvh.2_Silent_p.L762L|GRM4_uc010jvi.2_Silent_p.L454L|GRM4_uc003oio.2_Silent_p.L454L|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.L622L|GRM4_uc003oiq.2_Silent_p.L629L|GRM4_uc011dsm.1_Silent_p.L593L	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	762	Helical; Name=5; (Potential).				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	6					L-Glutamic Acid(DB00142)	TGACCATGAGCAGCATGCTGT	0.602												
ETV7	51513	broad.mit.edu	37	6	36339255	36339255	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:36339255G>A	uc003omb.2	-	5	665	c.516C>T	c.(514-516)GGC>GGT	p.G172G	ETV7_uc003olz.1_Silent_p.G172G|ETV7_uc003oma.1_Silent_p.G117G|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Silent_p.G117G|ETV7_uc010jwj.2_Silent_p.G113G|ETV7_uc010jwh.2_Silent_p.G91G|ETV7_uc010jwi.2_Intron|ETV7_uc011dtl.1_Silent_p.G21G	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN	ets variant 7	172					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|skin(1)	2						CATCCAGGTGGCCGAAGTTGC	0.632												
DNAH8	1769	broad.mit.edu	37	6	38800181	38800181	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:38800181C>T	uc003ooe.1	+	29	4221	c.3621C>T	c.(3619-3621)GAC>GAT	p.D1207D		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						TTCGTGAGGACGTGATAAACT	0.333												
KIF6	221458	broad.mit.edu	37	6	39688506	39688506	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:39688506T>C	uc003oot.2	-	2	243	c.148A>G	c.(148-150)AAT>GAT	p.N50D	KIF6_uc011dua.1_Missense_Mutation_p.N50D|KIF6_uc010jxb.1_Missense_Mutation_p.N50D	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	50	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						CGCTTATTATTCACAAACCCA	0.308												
MOCS1	4337	broad.mit.edu	37	6	39877589	39877589	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:39877589C>T	uc003opb.2	-	8	1230	c.1092G>A	c.(1090-1092)CGG>CGA	p.R364R	MOCS1_uc003opa.2_Silent_p.R364R|MOCS1_uc003opc.2_Silent_p.R364R|MOCS1_uc003opd.2_Silent_p.R364R|MOCS1_uc003ope.2_Silent_p.R277R	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	364	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			ovary(1)|liver(1)|central_nervous_system(1)	3	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTGCATGCTGCCGCTTCTTCC	0.617												
MED20	9477	broad.mit.edu	37	6	41884548	41884548	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:41884548C>T	uc003ork.2	-	2	265	c.144G>A	c.(142-144)ACG>ACA	p.T48T	MED20_uc003orj.2_5'UTR|MED20_uc011duh.1_Silent_p.T48T|MED20_uc011dui.1_RNA|MED20_uc011duj.1_Intron	NM_004275	NP_004266	Q9H944	MED20_HUMAN	Trf (TATA binding protein-related	48					regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	mediator complex	DNA-directed RNA polymerase activity|protein binding				0	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TAGAGGCGGCCGTATGGTAAG	0.493												
CUL7	9820	broad.mit.edu	37	6	43018788	43018788	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:43018788C>T	uc003otq.2	-	4	1454	c.1151G>A	c.(1150-1152)CGG>CAG	p.R384Q	CUL7_uc011dvb.1_Missense_Mutation_p.R468Q|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron	NM_014780	NP_055595	Q14999	CUL7_HUMAN	cullin 7	384	Interaction with TP53.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			ovary(3)|kidney(1)	4			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATCCAGCATCCGCACTCGCAT	0.567												
TTBK1	84630	broad.mit.edu	37	6	43250532	43250532	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:43250532A>G	uc003ouq.1	+	14	2333	c.2054A>G	c.(2053-2055)TAC>TGC	p.Y685C		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	685	Potential.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGTCTGCCCTACCAGGACTTC	0.617												
ZNF318	24149	broad.mit.edu	37	6	43305046	43305046	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:43305046G>A	uc003oux.2	-	10	6768	c.6690C>T	c.(6688-6690)GGC>GGT	p.G2230G	ZNF318_uc003ouw.2_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2230					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			ovary(3)|breast(2)|central_nervous_system(1)|skin(1)	7			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCAGAGGGTCGCCACTGTCAT	0.478												
AARS2	57505	broad.mit.edu	37	6	44271116	44271116	+	Silent	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:44271116C>A	uc010jza.1	-	15	2055	c.2052G>T	c.(2050-2052)GTG>GTT	p.V684V	SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	684					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CGGCCTCCTGCACAGTGTTCT	0.627												
CDC5L	988	broad.mit.edu	37	6	44376246	44376246	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:44376246T>C	uc003oxl.2	+	8	1228	c.969T>C	c.(967-969)ACT>ACC	p.T323T		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	CDC5-like	323	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			lung(3)|ovary(1)|kidney(1)|skin(1)	6	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACGTCAAACTGCCGAGGAAT	0.418												
PLA2G7	7941	broad.mit.edu	37	6	46677119	46677119	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:46677119G>A	uc010jzf.2	-	9	1083	c.814C>T	c.(814-816)CAT>TAT	p.H272Y	PLA2G7_uc010jzg.1_Missense_Mutation_p.H272Y	NM_005084	NP_005075	Q13093	PAFA_HUMAN	phospholipase A2, group VII	272					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding				0			Lung(136;0.192)			CCAAAAGAATGTCCAATTACT	0.313												
TFAP2D	83741	broad.mit.edu	37	6	50683193	50683193	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:50683193G>C	uc003paf.2	+	2	916	c.404G>C	c.(403-405)GGC>GCC	p.G135A	TFAP2D_uc011dwt.1_RNA	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 beta-like 1	135							DNA binding|sequence-specific DNA binding transcription factor activity			ovary(6)|breast(1)	7	Lung NSC(77;0.0334)					CGGGAGCTGGGCTGCCTCGAT	0.622												
PKHD1	5314	broad.mit.edu	37	6	51613339	51613339	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:51613339G>A	uc003pah.1	-	58	9351	c.9075C>T	c.(9073-9075)GGC>GGT	p.G3025G	PKHD1_uc010jzn.1_Silent_p.G1008G|PKHD1_uc003pai.2_Silent_p.G3025G	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3025	Extracellular (Potential).|PbH1 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)					GAATGCCCCCGCCACAGCTCT	0.458												
MYO6	4646	broad.mit.edu	37	6	76564979	76564979	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:76564979G>A	uc003pih.1	+	12	1481	c.1202G>A	c.(1201-1203)GGC>GAC	p.G401D	MYO6_uc003pig.1_Missense_Mutation_p.G401D|MYO6_uc003pii.1_Missense_Mutation_p.G401D	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	401	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		ACAGCAGGGGGCACCAAAGGA	0.383												
MYO6	4646	broad.mit.edu	37	6	76623846	76623846	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:76623846G>A	uc003pih.1	+	34	3785	c.3506G>A	c.(3505-3507)CGC>CAC	p.R1169H	MYO6_uc003pii.1_Missense_Mutation_p.R1146H|MYO6_uc003pij.1_Missense_Mutation_p.R117H	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	myosin VI	1178					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			kidney(1)|pancreas(1)	2		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CGACAGCAACGCTTCTTCCGC	0.498												
IBTK	25998	broad.mit.edu	37	6	82911177	82911177	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:82911177C>T	uc003pjl.1	-	19	3279	c.2752G>A	c.(2752-2754)GGT>AGT	p.G918S	IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Missense_Mutation_p.G918S|IBTK_uc011dyw.1_Missense_Mutation_p.G717S|IBTK_uc010kbi.1_Missense_Mutation_p.G612S|IBTK_uc003pjm.2_Missense_Mutation_p.G918S	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	918					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTCAAAACACCATCGCTTAAA	0.318												
ZNF292	23036	broad.mit.edu	37	6	87964573	87964573	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:87964573T>A	uc003plm.3	+	8	1267	c.1226T>A	c.(1225-1227)TTG>TAG	p.L409*		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)	4		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTGGAAATGTTGTATAATCAG	0.378												
MDN1	23195	broad.mit.edu	37	6	90366466	90366466	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:90366466A>C	uc003pnn.1	-	91	15354	c.15238T>G	c.(15238-15240)TTC>GTC	p.F5080V		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	5080					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			ovary(8)|skin(2)	10		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGGGCAATGAAATTCGATTCA	0.458												
MANEA	79694	broad.mit.edu	37	6	96034484	96034484	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:96034484A>G	uc003poo.1	+	2	309	c.169A>G	c.(169-171)AAA>GAA	p.K57E	MANEA_uc003pon.2_Missense_Mutation_p.K57E	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	57	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			ovary(2)|breast(1)	3		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TCATTTGGGGAAAAATTTTGA	0.358												
KLHL32	114792	broad.mit.edu	37	6	97562303	97562303	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:97562303C>A	uc010kcm.1	+	7	1744	c.1272C>A	c.(1270-1272)AAC>AAA	p.N424K	KLHL32_uc003poy.2_Missense_Mutation_p.N424K|KLHL32_uc011ead.1_Missense_Mutation_p.N388K|KLHL32_uc003poz.2_Intron|KLHL32_uc011eae.1_Missense_Mutation_p.N355K|KLHL32_uc003ppa.2_Intron	NM_052904	NP_443136	Q96NJ5	KLH32_HUMAN	kelch-like 32	424	Kelch 3.									ovary(3)|skin(1)	4		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		CCAAGAAGAACAAATGGACTT	0.473												
ASCC3	10973	broad.mit.edu	37	6	101086686	101086686	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:101086686G>C	uc003pqk.2	-	25	4242	c.3913C>G	c.(3913-3915)CTT>GTT	p.L1305V		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			ovary(5)|skin(1)	6		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAAGGCTGAAGATCCAGTAAT	0.348												
PRDM1	639	broad.mit.edu	37	6	106555298	106555298	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:106555298C>T	uc003prd.2	+	7	2649	c.2415C>T	c.(2413-2415)AGC>AGT	p.S805S	PRDM1_uc003pre.2_Silent_p.S671S	NM_001198	NP_001189	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain isoform	805					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1)	56	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGCCTCCCAGCAACCCACTAC	0.418			D|N|Mis|F|S		DLBCL							
BEND3	57673	broad.mit.edu	37	6	107390934	107390934	+	Silent	SNP	C	C	T	rs143332621		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:107390934C>T	uc003prs.2	-	5	2111	c.1461G>A	c.(1459-1461)GCG>GCA	p.A487A		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	487	BEN 2.									ovary(3)	3						CTTCACTGCCCGCGTCCAGCC	0.647												
SOBP	55084	broad.mit.edu	37	6	107955346	107955346	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:107955346G>A	uc003prx.2	+	6	1802	c.1298G>A	c.(1297-1299)GGC>GAC	p.G433D		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	433	Pro-rich.						metal ion binding			ovary(1)	1		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		ATGCTTCCCGGCATCGGGCCC	0.706												
FYN	2534	broad.mit.edu	37	6	111995713	111995713	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:111995713A>G	uc003pvj.2	-	12	1734	c.1394T>C	c.(1393-1395)GTG>GCG	p.V465A	FYN_uc003pvi.2_Missense_Mutation_p.V410A|FYN_uc003pvk.2_Missense_Mutation_p.V465A|FYN_uc003pvh.2_Missense_Mutation_p.V462A	NM_002037	NP_002028	P06241	FYN_HUMAN	protein-tyrosine kinase fyn isoform a	465	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|central_nervous_system(1)|skin(1)	7		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TGGGTATGGCACTCTTCCTTT	0.517												
GOPC	57120	broad.mit.edu	37	6	117884447	117884447	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:117884447C>T	uc003pxu.2	-	9	1589	c.1359G>A	c.(1357-1359)CTG>CTA	p.L453L	GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxs.2_Intron|GOPC_uc003pxv.2_Silent_p.L445L	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN	golgi associated PDZ and coiled-coil motif	453					apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding			ovary(1)	1		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		ACAGAGTGTGCAGATCATCTA	0.393			O	ROS1	glioblastoma							
GJA1	2697	broad.mit.edu	37	6	121768598	121768598	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:121768598G>A	uc003pyr.2	+	2	855	c.605G>A	c.(604-606)CGC>CAC	p.R202H	GJA1_uc011ebo.1_Missense_Mutation_p.R103H|GJA1_uc011ebp.1_5'UTR	NM_000165	NP_000156	P17302	CXA1_HUMAN	connexin 43	202	Extracellular (Potential).		R -> H (in ODDD).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			ovary(2)	2				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TTCCTCTCTCGCCCCACGGAG	0.473												
NKAIN2	154215	broad.mit.edu	37	6	124979412	124979412	+	Silent	SNP	G	G	A	rs142736368	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:124979412G>A	uc003pzo.2	+	4	631	c.354G>A	c.(352-354)ACG>ACA	p.T118T	NKAIN2_uc003pzn.1_Silent_p.T118T|NKAIN2_uc003pzp.2_Silent_p.T117T|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Silent_p.T28T	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	T-cell lymphoma breakpoint-associated target 1	118						integral to membrane|plasma membrane					0				GBM - Glioblastoma multiforme(226;0.104)		GTACGGTGACGTCAGTGACAC	0.488												
TCF21	6943	broad.mit.edu	37	6	134210757	134210757	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:134210757G>T	uc003qei.3	+	1	498	c.222G>T	c.(220-222)CAG>CAT	p.Q74H	uc003qeg.1_5'Flank|TCF21_uc003qej.2_Missense_Mutation_p.Q74H	NM_003206	NP_003197	O43680	TCF21_HUMAN	transcription factor 21	74					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)		GGGTCAGCCAGGAGGGGAAGC	0.687												
SLC35D3	340146	broad.mit.edu	37	6	137245685	137245685	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:137245685C>T	uc003qhe.2	+	2	1267	c.1102C>T	c.(1102-1104)CGA>TGA	p.R368*		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	368					carbohydrate transport	integral to membrane				ovary(1)|central_nervous_system(1)	2	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GGGCAGCCCCCGAGGAGTCCC	0.637												
NMBR	4829	broad.mit.edu	37	6	142409452	142409452	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:142409452C>T	uc003qiu.2	-	1	485	c.344G>A	c.(343-345)GGC>GAC	p.G115D		NM_002511	NP_002502	P28336	NMBR_HUMAN	neuromedin B receptor	115	Extracellular (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			central_nervous_system(3)|breast(1)	4	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CAGTTTGCAGCCCACCTTGCC	0.602												
GRM1	2911	broad.mit.edu	37	6	146755425	146755425	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:146755425G>T	uc010khw.1	+	9	3548	c.3078G>T	c.(3076-3078)CAG>CAT	p.Q1026H	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	1026	Gln/Pro-rich.|Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			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)	CCCCTCCACAGCAGAAATCGC	0.662												
LATS1	9113	broad.mit.edu	37	6	150016224	150016224	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:150016224G>A	uc003qmu.1	-	3	1030	c.482C>T	c.(481-483)GCC>GTC	p.A161V	LATS1_uc010kif.1_Missense_Mutation_p.A56V|LATS1_uc003qmv.1_Missense_Mutation_p.A161V|LATS1_uc003qmw.2_Missense_Mutation_p.A161V|LATS1_uc010kig.1_Missense_Mutation_p.A56V	NM_004690	NP_004681	O95835	LATS1_HUMAN	LATS homolog 1	161					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)		TTTCATGCTGGCATTAATAGG	0.358												
MTHFD1L	25902	broad.mit.edu	37	6	151336756	151336756	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:151336756C>A	uc003qob.2	+	24	2781	c.2513C>A	c.(2512-2514)TCG>TAG	p.S838*	MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Nonsense_Mutation_p.S839*|MTHFD1L_uc003qoc.2_Nonsense_Mutation_p.S786*	NM_015440	NP_056255	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+	838	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			ovary(3)|large_intestine(1)	4		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GGAAAAGGATCGGTGGACTTG	0.522												
IGF2R	3482	broad.mit.edu	37	6	160501183	160501183	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:160501183T>C	uc003qta.2	+	39	5857	c.5709T>C	c.(5707-5709)TGT>TGC	p.C1903C		NM_000876	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor precursor	1903	13.|Lumenal (Potential).|Fibronectin type-II.				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			ovary(3)	3		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GCGTCCCCTGTGTCTTCCCCT	0.537												
MAP3K4	4216	broad.mit.edu	37	6	161470592	161470592	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:161470592C>A	uc003qtn.2	+	3	1430	c.1288C>A	c.(1288-1290)CCT>ACT	p.P430T	MAP3K4_uc010kkc.1_Missense_Mutation_p.P430T|MAP3K4_uc003qto.2_Missense_Mutation_p.P430T|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	430					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GTTTGAAATCCCTTCCCCTCG	0.418												
MAP3K4	4216	broad.mit.edu	37	6	161514015	161514015	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:161514015C>T	uc003qtn.2	+	14	3417	c.3275C>T	c.(3274-3276)GCG>GTG	p.A1092V	MAP3K4_uc010kkc.1_Missense_Mutation_p.A1092V|MAP3K4_uc003qto.2_Missense_Mutation_p.A1092V|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_Missense_Mutation_p.A545V|MAP3K4_uc003qtp.2_Missense_Mutation_p.A82V	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1092					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACCAGGTGGGCGACTCAAGGA	0.338												
PDE10A	10846	broad.mit.edu	37	6	165846548	165846548	+	Missense_Mutation	SNP	T	T	A	rs139733232		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:165846548T>A	uc003qun.2	-	8	818	c.577A>T	c.(577-579)ATT>TTT	p.I193F	PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.I123F|PDE10A_uc003quo.2_Missense_Mutation_p.I203F	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	phosphodiesterase 10A isoform 2	193	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			ovary(3)|skin(2)	5		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	GCAGTGACAATTGGTAAGCAA	0.428												
WDR27	253769	broad.mit.edu	37	6	170059238	170059238	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:170059238C>T	uc003qwx.2	-	12	1783	c.1263G>A	c.(1261-1263)GCG>GCA	p.A421A	WDR27_uc003qwv.1_RNA|WDR27_uc010kkw.1_Silent_p.A421A|WDR27_uc003qwy.2_Silent_p.A294A|WDR27_uc003qwz.1_Silent_p.A154A			A2RRH5	WDR27_HUMAN	RecName: Full=WD repeat-containing protein 27;	391										pancreas(1)	1		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CCCTGACTAGCGCGGCCGGGT	0.597												
MIOS	54468	broad.mit.edu	37	7	7612108	7612108	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:7612108T>C	uc003srf.2	+	4	310	c.2T>C	c.(1-3)ATG>ACG	p.M1T	MIOS_uc010ktp.1_Missense_Mutation_p.M1T	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog	1											0						TCAGTAAACATGAGCGGTACC	0.348												
NXPH1	30010	broad.mit.edu	37	7	8475382	8475382	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:8475382G>A	uc003srv.2	+	2	950	c.39G>A	c.(37-39)CAG>CAA	p.Q13Q	NXPH1_uc011jxh.1_5'UTR	NM_152745	NP_689958	P58417	NXPH1_HUMAN	neurexophilin 1 precursor	13						extracellular region				ovary(1)|central_nervous_system(1)	2		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TCCTCCTGCAGCCCACCGTCT	0.557												
THSD7A	221981	broad.mit.edu	37	7	11485856	11485856	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:11485856C>T	uc003ssf.3	-	13	3148	c.2896G>A	c.(2896-2898)GTG>ATG	p.V966M		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	966	TSP type-1 10.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CAGTTCCCCACAGGTTGTGCA	0.403										HNSCC(18;0.044)		
MEOX2	4223	broad.mit.edu	37	7	15725591	15725591	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:15725591G>A	uc003stc.2	-	1	718	c.437C>T	c.(436-438)CCG>CTG	p.P146L	MEOX2_uc011jxw.1_Missense_Mutation_p.P146L	NM_005924	NP_005915	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	146					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		GTAGTCCCCCGGCGCGCACGC	0.706												
HOXA4	3201	broad.mit.edu	37	7	27170241	27170241	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:27170241C>T	uc003sym.3	-	1	159	c.112G>A	c.(112-114)GGG>AGG	p.G38R		NM_002141	NP_002132	Q00056	HXA4_HUMAN	homeobox A4	38	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1						ccggggcccccgcccgggccg	0.597												
HOXA9	3205	broad.mit.edu	37	7	27204787	27204787	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:27204787G>A	uc003syt.2	-	1	363	c.290C>T	c.(289-291)CCC>CTC	p.P97L		NM_152739	NP_689952	P31269	HXA9_HUMAN	homeobox A9	97							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|central_nervous_system(1)	2						CGCCGCCACGGGCGCCTGGGG	0.736			T	NUP98|MSI2	AML*							
TAX1BP1	8887	broad.mit.edu	37	7	27839705	27839705	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:27839705A>T	uc003szl.2	+	13	1918	c.1760A>T	c.(1759-1761)TAT>TTT	p.Y587F	TAX1BP1_uc011jzo.1_Missense_Mutation_p.Y587F|TAX1BP1_uc003szk.2_Missense_Mutation_p.Y587F|TAX1BP1_uc011jzp.1_Missense_Mutation_p.Y430F	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I)	587	Potential.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)	1			GBM - Glioblastoma multiforme(3;0.0823)			CAGGACAATTATAAAGTAAGT	0.279												
CREB5	9586	broad.mit.edu	37	7	28763860	28763860	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:28763860A>G	uc003szq.2	+	7	1003	c.613A>G	c.(613-615)AAC>GAC	p.N205D	CREB5_uc003szo.2_Missense_Mutation_p.N172D|CREB5_uc003szr.2_Missense_Mutation_p.N198D|CREB5_uc003szs.2_Missense_Mutation_p.N66D|CREB5_uc011jzr.1_Missense_Mutation_p.N54D	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	205					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2						AATGTCAGTGAACTCCAGCAT	0.458												
NOD1	10392	broad.mit.edu	37	7	30494838	30494838	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:30494838G>A	uc003tav.2	-	5	814	c.291C>T	c.(289-291)TAC>TAT	p.Y97Y	NOD1_uc010kvs.2_Silent_p.Y97Y	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain	97	CARD.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			ovary(1)|skin(1)	2						TGAGGTCCACGTAGGCATCTG	0.587												
TBX20	57057	broad.mit.edu	37	7	35244126	35244126	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:35244126T>C	uc011kas.1	-	7	970	c.959A>G	c.(958-960)GAA>GGA	p.E320G		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	T-box transcription factor TBX20	320						nucleus	DNA binding			central_nervous_system(1)	1						GACATCTTCTTCTCCTCCGTA	0.488												
HERPUD2	64224	broad.mit.edu	37	7	35674970	35674970	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:35674970G>A	uc003tet.2	-	6	1521	c.716C>T	c.(715-717)CCC>CTC	p.P239L	HERPUD2_uc003tes.3_Missense_Mutation_p.P239L	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	239					response to unfolded protein	integral to membrane				ovary(3)	3						AGCTGGTGGGGGTTCTTCTCC	0.473												
EPDR1	54749	broad.mit.edu	37	7	37988614	37988614	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:37988614G>A	uc003tfp.2	+	2	821	c.802G>A	c.(802-804)GTC>ATC	p.V268I	EPDR1_uc003tfq.2_Intron|EPDR1_uc010kxh.2_Missense_Mutation_p.V87I	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	ependymin related protein 1 precursor	148					cell-matrix adhesion	extracellular region	calcium ion binding			upper_aerodigestive_tract(1)	1						GCAGATCACCGTCCAGGAGTG	0.493												
GLI3	2737	broad.mit.edu	37	7	42005509	42005509	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:42005509G>A	uc011kbh.1	-	15	3253	c.3162C>T	c.(3160-3162)GGC>GGT	p.G1054G	GLI3_uc011kbg.1_Silent_p.G995G	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	1054					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						GGGACTGGCCGCCCTCGGGCC	0.652									Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome			
HECW1	23072	broad.mit.edu	37	7	43477737	43477737	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:43477737G>A	uc003tid.1	+	9	1542	c.937G>A	c.(937-939)GCC>ACC	p.A313T	HECW1_uc011kbi.1_Missense_Mutation_p.A313T|HECW1_uc003tie.1_Missense_Mutation_p.A345T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	NEDD4-like ubiquitin-protein ligase 1	313					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						GGAGAGACACGCCATAGGGTA	0.512												
PKD1L1	168507	broad.mit.edu	37	7	47851635	47851635	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:47851635G>A	uc003tny.1	-	50	7361	c.7361C>T	c.(7360-7362)ACA>ATA	p.T2454I	C7orf69_uc003tnz.3_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.2_Missense_Mutation_p.T181I	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	2454	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						GGACAGGGCTGTGTGGGCTTC	0.582												
POM121L12	285877	broad.mit.edu	37	7	53103493	53103493	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:53103493G>A	uc003tpz.2	+	1	145	c.129G>A	c.(127-129)ACG>ACA	p.T43T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	POM121 membrane glycoprotein-like 12	43											0						CCCAGACCACGCCATCTCCCC	0.682												
EGFR	1956	broad.mit.edu	37	7	55224270	55224270	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:55224270A>G	uc003tqk.2	+	9	1297	c.1051A>G	c.(1051-1053)ATA>GTA	p.I351V	EGFR_uc003tqh.2_Missense_Mutation_p.I351V|EGFR_uc003tqi.2_Missense_Mutation_p.I351V|EGFR_uc003tqj.2_Missense_Mutation_p.I351V|EGFR_uc010kzg.1_Missense_Mutation_p.I306V|EGFR_uc011kco.1_Missense_Mutation_p.I298V|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA	NM_005228	NP_005219	P00533	EGFR_HUMAN	epidermal growth factor receptor isoform a	351	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			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)	CTCACTCTCCATAAATGCTAC	0.428		8	A|O|Mis		glioma|NSCLC	NSCLC			Lung_Cancer_Familial_Clustering_of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
GUSB	2990	broad.mit.edu	37	7	65432725	65432725	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:65432725A>G	uc003tun.2	-	10	1722	c.1646T>C	c.(1645-1647)TTT>TCT	p.F549S	GUSB_uc011kdt.1_Missense_Mutation_p.F403S	NM_000181	NP_000172	P08236	BGLR_HUMAN	glucuronidase, beta precursor	549					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0						TACCTGGTGAAACCCTGCAAT	0.517												
AUTS2	26053	broad.mit.edu	37	7	69364323	69364323	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:69364323C>A	uc003tvw.3	+	2	1104	c.361C>A	c.(361-363)CTG>ATG	p.L121M	AUTS2_uc003tvv.3_Missense_Mutation_p.L121M|AUTS2_uc003tvx.3_Missense_Mutation_p.L121M	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	121										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCAGACGCCCCTGACCAAGAA	0.468												
AUTS2	26053	broad.mit.edu	37	7	69583138	69583138	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:69583138C>A	uc003tvw.3	+	3	1286	c.543C>A	c.(541-543)AGC>AGA	p.S181R	AUTS2_uc003tvv.3_Missense_Mutation_p.S181R|AUTS2_uc003tvx.3_Missense_Mutation_p.S181R	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	181										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACAGAACAGCTGCAGGGACA	0.443												
AUTS2	26053	broad.mit.edu	37	7	70255474	70255474	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:70255474G>C	uc003tvw.3	+	19	4015	c.3272G>C	c.(3271-3273)GGC>GCC	p.G1091A	AUTS2_uc003tvx.3_Missense_Mutation_p.G1067A|AUTS2_uc011keg.1_Missense_Mutation_p.G543A	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1091										ovary(2)|central_nervous_system(1)	3		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACCCGCTGGGCAGGGACTTC	0.637												
WBSCR28	135886	broad.mit.edu	37	7	73279655	73279655	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:73279655G>A	uc003tzk.2	+	2	441	c.405G>A	c.(403-405)CTG>CTA	p.L135L	RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Silent_p.L34L	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	hypothetical protein LOC135886	135	Helical; (Potential).					integral to membrane				breast(1)	1		Lung NSC(55;0.159)				TGTCATGTCTGCACGGCCTGA	0.607												
LAT2	7462	broad.mit.edu	37	7	73635972	73635972	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:73635972C>A	uc003uag.2	+	10	888	c.338C>A	c.(337-339)CCC>CAC	p.P113H	RFC2_uc011kfa.1_Intron|LAT2_uc003uah.2_Missense_Mutation_p.P113H|LAT2_uc003uai.2_Missense_Mutation_p.P113H|LAT2_uc010lbo.2_Intron	NM_032464	NP_115853	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family member	113	Cytoplasmic (Potential).				B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding				0						GCCAGAGACCCCATTGCCATG	0.597												
SEMA3C	10512	broad.mit.edu	37	7	80387683	80387683	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:80387683C>T	uc003uhj.2	-	15	2169	c.1607G>A	c.(1606-1608)GGC>GAC	p.G536D	SEMA3C_uc011kgw.1_Missense_Mutation_p.G554D	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	semaphorin 3C precursor	536					immune response|response to drug	membrane	receptor activity			ovary(1)	1						ACAGGAATGGCCATCCCAGGC	0.527												
SEMA3A	10371	broad.mit.edu	37	7	83591011	83591011	+	Silent	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:83591011G>T	uc003uhz.2	-	17	2307	c.1992C>A	c.(1990-1992)ACC>ACA	p.T664T		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	664	Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4						TGACTTCCAGGGTTACCTTAA	0.428												
ABCB4	5244	broad.mit.edu	37	7	87035769	87035769	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:87035769C>T	uc003uiv.1	-	26	3418	c.3342G>A	c.(3340-3342)TGG>TGA	p.W1114*	ABCB4_uc003uiw.1_Nonsense_Mutation_p.W1107*|ABCB4_uc003uix.1_Nonsense_Mutation_p.W1060*	NM_018849	NP_061337	P21439	MDR3_HUMAN	ATP-binding cassette, subfamily B, member 4	1114	ABC transporter 2.|Cytoplasmic (By similarity).				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			ovary(4)|skin(1)|pancreas(1)	6	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GAGCTCTGAGCCACTGGACAT	0.418												
ZNF804B	219578	broad.mit.edu	37	7	88847469	88847469	+	Missense_Mutation	SNP	G	G	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:88847469G>C	uc011khi.1	+	2	647	c.109G>C	c.(109-111)GAT>CAT	p.D37H		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	37						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTCTTAAAGGATTTTGCAGA	0.348										HNSCC(36;0.09)		
FZD1	8321	broad.mit.edu	37	7	90895674	90895674	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:90895674G>A	uc003ula.2	+	1	1892	c.1479G>A	c.(1477-1479)GCG>GCA	p.A493A		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	frizzled 1 precursor	493	Helical; Name=5; (Potential).				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding				0	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TCGTGCTGGCGCCCCTCTTCG	0.617												
PPP1R9A	55607	broad.mit.edu	37	7	94740588	94740588	+	Silent	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:94740588C>A	uc003unp.2	+	3	1695	c.1413C>A	c.(1411-1413)TCC>TCA	p.S471S	PPP1R9A_uc010lfj.2_Silent_p.S471S|PPP1R9A_uc011kif.1_Silent_p.S471S|PPP1R9A_uc003unq.2_Silent_p.S471S|PPP1R9A_uc011kig.1_Silent_p.S471S	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	471	Interacts with protein phosphatase 1 (By similarity).					cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACACATACTCCAATGAAGACT	0.378										HNSCC(28;0.073)		
OR2AE1	81392	broad.mit.edu	37	7	99474544	99474544	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:99474544G>A	uc003usc.1	-	1	113	c.113C>T	c.(112-114)GCG>GTG	p.A38V		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE,	38	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GCCACTCACCGCAATAAGGAA	0.507												
TRIM4	89122	broad.mit.edu	37	7	99490019	99490019	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:99490019C>T	uc003usd.2	-	7	1400	c.1270G>A	c.(1270-1272)GCT>ACT	p.A424T	TRIM4_uc003use.2_Missense_Mutation_p.A398T|TRIM4_uc011kjc.1_Missense_Mutation_p.A254T	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	tripartite motif protein TRIM4 isoform alpha	424	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			ovary(1)|kidney(1)	2	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				CAATAGCCAGCAGCACTCCAA	0.557												
SRRT	51593	broad.mit.edu	37	7	100483916	100483916	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:100483916C>T	uc003uwy.2	+	14	1775	c.1507C>T	c.(1507-1509)CGC>TGC	p.R503C	SRRT_uc010lhl.1_Missense_Mutation_p.R502C|SRRT_uc003uxa.2_Missense_Mutation_p.R502C|SRRT_uc003uwz.2_Missense_Mutation_p.R503C	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	arsenate resistance protein 2 isoform a	503					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			ovary(2)	2						CCTGACCCGGCGCGTTCGCAA	0.602												
TRIM56	81844	broad.mit.edu	37	7	100732461	100732461	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:100732461G>A	uc003uxq.2	+	3	2099	c.1868G>A	c.(1867-1869)CGG>CAG	p.R623Q	TRIM56_uc003uxr.2_Intron	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	tripartite motif-containing 56	623					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|central_nervous_system(1)|skin(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGGCCACCCGGTTCATTCCT	0.687												
PLOD3	8985	broad.mit.edu	37	7	100849621	100849621	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:100849621C>T	uc003uyd.2	-	19	2614	c.2158G>A	c.(2158-2160)GAG>AAG	p.E720K	PLOD3_uc010lhs.2_Missense_Mutation_p.E285K	NM_001084	NP_001075	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase	720	Fe2OG dioxygenase.				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			ovary(1)|skin(1)	2	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGCAGCCCCTCGTGGTAGTGG	0.642												
ORAI2	80228	broad.mit.edu	37	7	102087428	102087428	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:102087428C>T	uc010lhz.1	+	4	929	c.694C>T	c.(694-696)CGC>TGC	p.R232C	ORAI2_uc003uzj.2_Missense_Mutation_p.R232C|ORAI2_uc003uzk.2_Missense_Mutation_p.R232C|ORAI2_uc011kks.1_Missense_Mutation_p.R155C	NM_001126340	NP_001119812	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator	232						integral to membrane	protein binding			ovary(1)|kidney(1)	2						GCGCCACAACCGCGAGATCGA	0.652												
SLC26A5	375611	broad.mit.edu	37	7	103014994	103014994	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:103014994G>T	uc003vbz.2	-	20	2323	c.2087C>A	c.(2086-2088)CCT>CAT	p.P696H	SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.P664H|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	NM_198999	NP_945350	P58743	S26A5_HUMAN	prestin isoform a	696	Cytoplasmic (Potential).|STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			ovary(1)	1						CCATAGGGCAGGATTTTCAAA	0.443												
TSPAN12	23554	broad.mit.edu	37	7	120496814	120496814	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:120496814C>T	uc003vjk.2	-	2	378	c.4G>A	c.(4-6)GCC>ACC	p.A2T		NM_012338	NP_036470	O95859	TSN12_HUMAN	transmembrane 4 superfamily member 12	2	Cytoplasmic (Potential).				angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction					0	all_neural(327;0.117)					TCTTCTCTGGCCATTGTGAGC	0.567											OREG0018280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
AASS	10157	broad.mit.edu	37	7	121716636	121716636	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:121716636C>A	uc003vka.2	-	23	2784	c.2688G>T	c.(2686-2688)ATG>ATT	p.M896I	AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.M896I|AASS_uc011knw.1_Missense_Mutation_p.M384I	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase precursor	896	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			upper_aerodigestive_tract(1)|ovary(1)	2					L-Glutamic Acid(DB00142)|NADH(DB00157)	AAAAGGGCCCCATTAGGCCTT	0.383												
GCC1	79571	broad.mit.edu	37	7	127222690	127222690	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:127222690C>T	uc003vma.2	-	2	2124	c.1706G>A	c.(1705-1707)CGG>CAG	p.R569Q		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Golgi coiled-coil protein 1	569	Potential.					Golgi membrane|plasma membrane	protein binding			ovary(2)	2						CAGCTGGCACCGCTCCAGCTC	0.637												
FSCN3	29999	broad.mit.edu	37	7	127235972	127235972	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:127235972G>T	uc003vmd.1	+	2	975	c.756G>T	c.(754-756)AGG>AGT	p.R252S	FSCN3_uc003vmc.1_Missense_Mutation_p.R207S|FSCN3_uc011kog.1_RNA|FSCN3_uc011koh.1_Missense_Mutation_p.R118S|FSCN3_uc010llc.1_Missense_Mutation_p.R252S	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	fascin 3	252						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			ovary(1)	1						ACCCCATGAGGGGTGAGGAGT	0.587												
SLC13A4	26266	broad.mit.edu	37	7	135384171	135384171	+	Silent	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:135384171G>T	uc003vta.2	-	8	1526	c.837C>A	c.(835-837)GGC>GGA	p.G279G	SLC13A4_uc003vtb.2_Silent_p.G280G	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	279	Helical; (Potential).					integral to plasma membrane	sodium:sulfate symporter activity				0						TGGTCAGGCCGCCAATGGTAG	0.453												
ZC3HAV1L	92092	broad.mit.edu	37	7	138711299	138711299	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:138711299G>A	uc003vum.1	-	5	906	c.894C>T	c.(892-894)TGC>TGT	p.C298C		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	298											0						TTTACTTCTCGCAAGACACTG	0.378												
OR2A1	346528	broad.mit.edu	37	7	144015504	144015504	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:144015504G>A	uc011kud.1	+	1	269	c.269G>A	c.(268-270)TGC>TAC	p.C90Y	OR2A9P_uc003wec.1_Intron	NM_001001802	NP_001001802	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A,	96	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2	Melanoma(164;0.14)					TTTGCTGGCTGCATGACGCAG	0.577												
NOBOX	135935	broad.mit.edu	37	7	144098459	144098459	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:144098459C>T	uc011kue.1	-	4	524	c.524G>A	c.(523-525)CGC>CAC	p.R175H		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	175					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			ovary(1)	1	Melanoma(164;0.14)					GGGCCTGGAGCGGGCTAGAGT	0.622												
SSPO	23145	broad.mit.edu	37	7	149493767	149493767	+	Missense_Mutation	SNP	G	G	A	rs118118675	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:149493767G>A	uc010lpk.2	+	46	6763	c.6763G>A	c.(6763-6765)GGT>AGT	p.G2255S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	SCO-spondin precursor	2255	LDL-receptor class A 8.				cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTTGTGACGGTGTTCTGGA	0.647												
GIMAP6	474344	broad.mit.edu	37	7	150325347	150325347	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:150325347G>A	uc003whn.2	-	3	763	c.339C>T	c.(337-339)TGC>TGT	p.C113C	GIMAP6_uc003whm.2_Silent_p.C33C	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	113							GTP binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGATGGCTTGGCAGATAGCGT	0.632												
SLC4A2	6522	broad.mit.edu	37	7	150768521	150768521	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:150768521C>T	uc003wit.3	+	14	2276	c.2020C>T	c.(2020-2022)CCC>TCC	p.P674S	SLC4A2_uc011kve.1_Missense_Mutation_p.P665S|SLC4A2_uc003wiu.3_Missense_Mutation_p.P660S|SLC4A2_uc003wiv.3_5'Flank	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	674	Cytoplasmic (Potential).			AAGAAEDDPLRRTGRP -> RQGQLKMIPSADGAA (in Ref. 1; CAA44067 and 6; CAA27556).	bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAAGATGATCCCCTTCGGCG	0.672												
GBX1	2636	broad.mit.edu	37	7	150864251	150864251	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:150864251C>T	uc011kvg.1	-	1	617	c.385G>A	c.(385-387)GCC>ACC	p.A129T		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	gastrulation brain homeo box 1	129	Ala-rich.|Pro-rich.					nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		gcagtggcggcggcggcggca	0.577												
MLL3	58508	broad.mit.edu	37	7	151853315	151853315	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:151853315T>G	uc003wla.2	-	45	12006	c.11787A>C	c.(11785-11787)AAA>AAC	p.K3929N	MLL3_uc003wkz.2_Missense_Mutation_p.K3047N|MLL3_uc003wkx.2_Missense_Mutation_p.K87N|MLL3_uc003wky.2_Missense_Mutation_p.K1493N	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	3929					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACACTCCGGCTTTTCCAGCAA	0.473			N		medulloblastoma							
MNX1	3110	broad.mit.edu	37	7	156798390	156798390	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:156798390T>C	uc003wnd.1	-	3	1333	c.1030A>G	c.(1030-1032)AGC>GGC	p.S344G	MNX1_uc003wmz.2_Intron|MNX1_uc003wna.2_Intron|MNX1_uc010lqq.1_Missense_Mutation_p.S137G|MNX1_uc003wnc.1_Missense_Mutation_p.S132G|MNX1_uc010lqr.1_RNA	NM_005515	NP_005506	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1 isoform 1	344					humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCGTCCGCTGCCCTTGTCT	0.622									Currarino_syndrome			
CSMD1	64478	broad.mit.edu	37	8	3046481	3046481	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:3046481G>A	uc011kwk.1	-	35	5844	c.5454C>T	c.(5452-5454)GGC>GGT	p.G1818G	CSMD1_uc011kwj.1_Silent_p.G1210G|CSMD1_uc003wqe.2_Silent_p.G974G|CSMD1_uc010lrg.2_5'Flank	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1818	Extracellular (Potential).|CUB 11.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTCAGGGTAGCCGGGGGACA	0.468												
RP1L1	94137	broad.mit.edu	37	8	10467926	10467926	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:10467926T>C	uc003wtc.2	-	4	3911	c.3682A>G	c.(3682-3684)ACA>GCA	p.T1228A		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1228					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		GGCAGCTCTGTCCCCTGTGTC	0.577												
RP1L1	94137	broad.mit.edu	37	8	10468442	10468442	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:10468442C>T	uc003wtc.2	-	4	3395	c.3166G>A	c.(3166-3168)GCA>ACA	p.A1056T		NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1056					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)		CCGGCCTCTGCAGGGGCCTCG	0.672												
FAM160B2	64760	broad.mit.edu	37	8	21958382	21958382	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:21958382C>T	uc011kyx.1	+	12	1566	c.1515C>T	c.(1513-1515)ACC>ACT	p.T505T	FAM160B2_uc011kyy.1_RNA	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	retinoic acid induced 16	505											0						CCTACTTCACCGACAGCTTCC	0.567												
LGI3	203190	broad.mit.edu	37	8	22012138	22012138	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:22012138G>A	uc003xav.2	-	3	574	c.285C>T	c.(283-285)CTC>CTT	p.L95L	LGI3_uc010ltu.2_Silent_p.L95L	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	95	LRR 1.				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)		TGTTGGAGTTGAGTAACCTGC	0.562												
KIAA1967	57805	broad.mit.edu	37	8	22473261	22473261	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:22473261G>A	uc003xch.2	+	13	1581	c.1444G>A	c.(1444-1446)GCA>ACA	p.A482T	KIAA1967_uc003xci.2_Missense_Mutation_p.A482T|KIAA1967_uc003xcj.1_Missense_Mutation_p.A151T	NM_199205	NP_954675	Q8N163	K1967_HUMAN	p30 DBC protein	482					apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TAGACGGAACGCAGAAACTCC	0.587												
TRIM35	23087	broad.mit.edu	37	8	27146721	27146721	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:27146721G>A	uc003xfl.1	-	5	944	c.862C>T	c.(862-864)CAG>TAG	p.Q288*	TRIM35_uc010lup.1_Missense_Mutation_p.A248V	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	tripartite motif-containing 35 isoform 2	288	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding				0		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		ACGCGGTACTGCAGGGAGCCC	0.562												
CHRNA2	1135	broad.mit.edu	37	8	27327344	27327344	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:27327344C>T	uc010lur.2	-	3	837	c.228G>A	c.(226-228)CCG>CCA	p.P76P	CHRNA2_uc011lal.1_Silent_p.P76P|CHRNA2_uc010lus.2_5'UTR	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha	76	Extracellular.					cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			ovary(1)	1		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine(DB01336)|Metocurine Iodide(DB00416)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	TGTTGGGCACCGGGCGCGCCC	0.637												
TEX15	56154	broad.mit.edu	37	8	30695230	30695230	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:30695230C>A	uc003xil.2	-	3	7421	c.7421G>T	c.(7420-7422)GGG>GTG	p.G2474V		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	2474										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CAAAAGCGTCCCATGGTCTGG	0.393												
WRN	7486	broad.mit.edu	37	8	30945390	30945390	+	Missense_Mutation	SNP	A	A	T	rs149565907	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:30945390A>T	uc003xio.3	+	12	2318	c.1530A>T	c.(1528-1530)GAA>GAT	p.E510D	WRN_uc011lbe.1_Missense_Mutation_p.E38D|WRN_uc010lvk.2_Translation_Start_Site	NM_000553	NP_000544	Q14191	WRN_HUMAN	Werner syndrome protein	510	Poly-Glu.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		aagaagaagaagatgatgaaa	0.279			Mis|N|F|S			osteosarcoma|meningioma|others		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner_syndrome			
RAB11FIP1	80223	broad.mit.edu	37	8	37730383	37730383	+	Missense_Mutation	SNP	T	T	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:37730383T>G	uc003xkm.1	-	4	1981	c.1937A>C	c.(1936-1938)AAT>ACT	p.N646T	RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	646					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGAACCAGAATTTGGAACCGG	0.522												
MYST3	7994	broad.mit.edu	37	8	41836271	41836271	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:41836271C>T	uc010lxb.2	-	7	1476	c.932G>A	c.(931-933)CGA>CAA	p.R311Q	MYST3_uc010lxc.2_Missense_Mutation_p.R311Q|MYST3_uc003xon.3_Missense_Mutation_p.R311Q|MYST3_uc010lxd.2_Missense_Mutation_p.R311Q	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	MYST histone acetyltransferase (monocytic	311	PHD-type 2.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)			TTTCCTAGGTCGACATATTTG	0.348												
PRKDC	5591	broad.mit.edu	37	8	48701529	48701529	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:48701529A>G	uc003xqi.2	-	77	10897	c.10840T>C	c.(10840-10842)TAT>CAT	p.Y3614H	PRKDC_uc003xqj.2_Missense_Mutation_p.Y3614H|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3614					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAGGCTGCATACATTCTTTCA	0.418								NHEJ				
GGH	8836	broad.mit.edu	37	8	63939790	63939790	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:63939790G>A	uc003xuw.2	-	4	593	c.310C>T	c.(310-312)CGC>TGC	p.R104C		NM_003878	NP_003869	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase precursor	104	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity				0	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TAATCTGAGCGTCTGAGGTCA	0.378												
C8orf46	254778	broad.mit.edu	37	8	67405953	67405953	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:67405953G>A	uc003xwg.2	+	1	463	c.70G>A	c.(70-72)GTA>ATA	p.V24I	C8orf46_uc003xwh.2_RNA|C8orf46_uc011let.1_Missense_Mutation_p.V24I	NM_152765	NP_689978	Q8TAG6	CH046_HUMAN	hypothetical protein LOC254778	24										skin(2)	2			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TCCTTCCAAGGGTGAGTGAAA	0.498												
PREX2	80243	broad.mit.edu	37	8	69069574	69069574	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:69069574G>T	uc003xxv.1	+	35	4276	c.4249G>T	c.(4249-4251)GGA>TGA	p.G1417*		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	DEP domain containing 2 isoform a	1417					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						GAGCATGGAAGGATATTATTA	0.343												
SLCO5A1	81796	broad.mit.edu	37	8	70744535	70744535	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:70744535G>A	uc003xyl.2	-	2	1081	c.374C>T	c.(373-375)ACG>ATG	p.T125M	SLCO5A1_uc010lzb.2_Missense_Mutation_p.T125M|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.T125M|SLCO5A1_uc010lzc.2_Missense_Mutation_p.T125M	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	125	Cytoplasmic (Potential).					integral to membrane|plasma membrane	transporter activity			ovary(3)|upper_aerodigestive_tract(1)	4	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			ACGGGAATCCGTGAGGACCAC	0.557											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
SLC7A13	157724	broad.mit.edu	37	8	87230057	87230057	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:87230057G>A	uc003ydq.1	-	3	919	c.821C>T	c.(820-822)GCT>GTT	p.A274V	SLC7A13_uc003ydr.1_Missense_Mutation_p.A265V	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	solute carrier family 7, (cationic amino acid	274	Extracellular (Potential).					integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)	1						GATAGCTACAGCATCTGCAGA	0.303												
DCAF4L2	138009	broad.mit.edu	37	8	88885021	88885021	+	Silent	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:88885021G>T	uc003ydz.2	-	1	1276	c.1179C>A	c.(1177-1179)TCC>TCA	p.S393S		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	WD repeat domain 21C	393										ovary(1)	1						ATTAACCGTAGGAGAAACAAT	0.502												
KIAA0196	9897	broad.mit.edu	37	8	126061300	126061300	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:126061300C>T	uc003yrt.2	-	19	2656	c.2327G>A	c.(2326-2328)CGT>CAT	p.R776H	KIAA0196_uc011lir.1_Missense_Mutation_p.R628H|KIAA0196_uc003yru.1_Missense_Mutation_p.R350H	NM_014846	NP_055661	Q12768	STRUM_HUMAN	strumpellin	776					cell death	WASH complex				ovary(2)	2	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATTTATGATACGAGATACTTC	0.343												
ASAP1	50807	broad.mit.edu	37	8	131140189	131140189	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:131140189G>A	uc003yta.1	-	15	1393	c.1365C>T	c.(1363-1365)TGC>TGT	p.C455C	ASAP1_uc003ysz.1_Silent_p.C266C|ASAP1_uc011liw.1_Silent_p.C448C	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	455	Arf-GAP.|C4-type.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						AGCCACAATCGCAGCAAATGT	0.458												
ASAP1	50807	broad.mit.edu	37	8	131172126	131172126	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:131172126G>A	uc003yta.1	-	11	1022	c.994C>T	c.(994-996)CTA>TTA	p.L332L	ASAP1_uc003ysz.1_Silent_p.L143L|ASAP1_uc011liw.1_Silent_p.L325L	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	development and differentiation enhancing factor	332	PH.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			ovary(4)	4						CTTTTCTTTAGCAGGTACCCC	0.448												
TG	7038	broad.mit.edu	37	8	133906122	133906122	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:133906122G>A	uc003ytw.2	+	11	2990	c.2949G>A	c.(2947-2949)GCG>GCA	p.A983A		NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	983	Thyroglobulin type-1 8.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGCTTTCGCGGAGCAGTTTC	0.602												
ST3GAL1	6482	broad.mit.edu	37	8	134488254	134488254	+	Missense_Mutation	SNP	C	C	T	rs145602093		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:134488254C>T	uc003yuk.2	-	5	843	c.14G>A	c.(13-15)CGG>CAG	p.R5Q	ST3GAL1_uc003yum.2_Missense_Mutation_p.R5Q	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	5	Cytoplasmic (Potential).				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity				0	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GGTCCTCTTCCGCAGGGTCAC	0.547												
BAI1	575	broad.mit.edu	37	8	143614778	143614778	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:143614778C>T	uc003ywm.2	+	24	3704	c.3521C>T	c.(3520-3522)TCG>TTG	p.S1174L		NM_001702	NP_001693	O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1174	Helical; Name=7; (Potential).				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTCTTCGACTCGCTGGAGGGC	0.672												
ZNF623	9831	broad.mit.edu	37	8	144733545	144733545	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:144733545C>T	uc003yzd.2	+	1	1592	c.1503C>T	c.(1501-1503)AAC>AAT	p.N501N	ZNF623_uc011lkp.1_Silent_p.N461N|ZNF623_uc003yzc.2_Silent_p.N461N	NM_014789	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623 isoform 1	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAACTACAAACGTTAAAAATA	0.408												
PLEC	5339	broad.mit.edu	37	8	144991091	144991091	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:144991091G>A	uc003zaf.1	-	32	13479	c.13309C>T	c.(13309-13311)CGG>TGG	p.R4437W	PLEC_uc003zab.1_Missense_Mutation_p.R4300W|PLEC_uc003zac.1_Missense_Mutation_p.R4304W|PLEC_uc003zad.2_Missense_Mutation_p.R4300W|PLEC_uc003zae.1_Missense_Mutation_p.R4268W|PLEC_uc003zag.1_Missense_Mutation_p.R4278W|PLEC_uc003zah.2_Missense_Mutation_p.R4286W|PLEC_uc003zaj.2_Missense_Mutation_p.R4327W	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4437	Globular 2.|Plectin 29.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						ACCAGGTTCCGGTGCATGGCC	0.677												
PLEC	5339	broad.mit.edu	37	8	144991208	144991208	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:144991208C>T	uc003zaf.1	-	32	13362	c.13192G>A	c.(13192-13194)GCC>ACC	p.A4398T	PLEC_uc003zab.1_Missense_Mutation_p.A4261T|PLEC_uc003zac.1_Missense_Mutation_p.A4265T|PLEC_uc003zad.2_Missense_Mutation_p.A4261T|PLEC_uc003zae.1_Missense_Mutation_p.A4229T|PLEC_uc003zag.1_Missense_Mutation_p.A4239T|PLEC_uc003zah.2_Missense_Mutation_p.A4247T|PLEC_uc003zaj.2_Missense_Mutation_p.A4288T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4398	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CTGGAGACGGCGGGGCTGATG	0.667												
PLEC	5339	broad.mit.edu	37	8	144992277	144992277	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:144992277G>A	uc003zaf.1	-	32	12293	c.12123C>T	c.(12121-12123)GAC>GAT	p.D4041D	PLEC_uc003zab.1_Silent_p.D3904D|PLEC_uc003zac.1_Silent_p.D3908D|PLEC_uc003zad.2_Silent_p.D3904D|PLEC_uc003zae.1_Silent_p.D3872D|PLEC_uc003zag.1_Silent_p.D3882D|PLEC_uc003zah.2_Silent_p.D3890D|PLEC_uc003zaj.2_Silent_p.D3931D	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4041	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						CCGTGGCCTCGTCCATGACCT	0.652												
KIFC2	90990	broad.mit.edu	37	8	145692675	145692675	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:145692675G>A	uc003zcz.2	+	4	485	c.420G>A	c.(418-420)CTG>CTA	p.L140L	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	kinesin family member C2	140					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCAGGCCCTGCTCCAGGGGA	0.622											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
ZNF16	7564	broad.mit.edu	37	8	146156815	146156815	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:146156815C>A	uc003zet.2	-	4	1545	c.1358G>T	c.(1357-1359)AGA>ATA	p.R453I	ZNF16_uc003zeu.2_Missense_Mutation_p.R453I	NM_001029976	NP_001025147	P17020	ZNF16_HUMAN	zinc finger protein 16	453	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		AGTGTGAATTCTCCGATGCTG	0.478												
C8orf33	65265	broad.mit.edu	37	8	146278795	146278795	+	Silent	SNP	C	C	T	rs149041357	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:146278795C>T	uc003zfc.3	+	4	570	c.516C>T	c.(514-516)GCC>GCT	p.A172A	C8orf33_uc003zfd.2_RNA	NM_023080	NP_075568	Q9H7E9	CH033_HUMAN	hypothetical protein LOC65265	172											0	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		AGATGGAAGCCGAATGGCGTG	0.567												
FOXD4	2298	broad.mit.edu	37	9	117579	117579	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:117579C>T	uc003zfz.2	-	1	839	c.541G>A	c.(541-543)GAC>AAC	p.D181N		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	forkhead box D4	181	Fork-head.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(1)	1	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GAGGCGGGGTCCAGGCTCCAG	0.662												
DMRT3	58524	broad.mit.edu	37	9	990066	990066	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:990066C>T	uc003zgw.1	+	2	518	c.480C>T	c.(478-480)GAC>GAT	p.D160D		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor	160					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			ovary(2)|central_nervous_system(1)	3		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GACTTGGAGACGGCAAGTCGG	0.488												
MPDZ	8777	broad.mit.edu	37	9	13190239	13190239	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:13190239C>T	uc010mia.1	-	15	2085	c.2028G>A	c.(2026-2028)GCG>GCA	p.A676A	MPDZ_uc010mhy.2_Silent_p.A676A|MPDZ_uc010mhz.2_Silent_p.A676A|MPDZ_uc011lmn.1_Silent_p.A676A|MPDZ_uc003zlb.3_Silent_p.A676A	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	676					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			ovary(5)|central_nervous_system(1)	6				GBM - Glioblastoma multiforme(50;2.03e-06)		CATCAGTCATCGCCAGCACTG	0.507												
ADAMTSL1	92949	broad.mit.edu	37	9	18504847	18504847	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:18504847C>T	uc003zne.3	+	2	211	c.84C>T	c.(82-84)TCC>TCT	p.S28S	ADAMTSL1_uc003znb.2_Silent_p.S28S|ADAMTSL1_uc003znc.3_Silent_p.S28S	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1 isoform 4 precursor	28						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)	5				GBM - Glioblastoma multiforme(50;1.29e-17)		CCGCACGCTCCGAGGAGGACC	0.582												
SLC24A2	25769	broad.mit.edu	37	9	19622274	19622274	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:19622274A>C	uc003zoa.1	-	2	1016	c.954T>G	c.(952-954)GAT>GAG	p.D318E	SLC24A2_uc003zob.1_Missense_Mutation_p.D318E	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	solute carrier family 24	318	Cytoplasmic (Potential).				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			ovary(3)	3				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GAGTTGGTTCATCCTTGTCCC	0.463												
TAF1L	138474	broad.mit.edu	37	9	32630586	32630586	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:32630586C>T	uc003zrg.1	-	1	5082	c.4992G>A	c.(4990-4992)CAG>CAA	p.Q1664Q	uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	TBP-associated factor RNA polymerase 1-like	1664					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TATCAGGAGGCTGAGATGTGT	0.453												
APTX	54840	broad.mit.edu	37	9	32987827	32987827	+	Silent	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:32987827G>T	uc003zrm.2	-	3	395	c.198C>A	c.(196-198)ACC>ACA	p.T66T	APTX_uc010mjm.2_Intron|APTX_uc003zrj.2_5'UTR|APTX_uc011lns.1_Intron|APTX_uc003zrl.2_Intron|APTX_uc003zrn.2_5'UTR|APTX_uc003zro.2_Silent_p.T66T|APTX_uc003zrp.2_5'UTR|APTX_uc003zrq.2_5'UTR|APTX_uc003zrr.2_Intron|APTX_uc003zrs.2_Silent_p.T66T|APTX_uc003zrt.2_5'UTR|APTX_uc003zru.2_Intron|APTX_uc003zrv.2_Silent_p.T80T|APTX_uc003zrw.2_Silent_p.T66T|APTX_uc003zrx.2_Silent_p.T66T|APTX_uc003zry.2_Silent_p.T66T|APTX_uc003zrz.2_Intron|APTX_uc003zsa.1_Intron|APTX_uc003zsb.1_Intron|APTX_uc003zsc.1_Intron	NM_175072	NP_778242	Q7Z2E3	APTX_HUMAN	aprataxin isoform c	80	Interactions with ADPRT and NCL.|FHA-like.				cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		AGTCAATGCTGGTGGGATTGA	0.408								Direct_reversal_of_damage|Editing_and_processing_nucleases				
NFX1	4799	broad.mit.edu	37	9	33294992	33294992	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:33294992G>A	uc003zsq.2	+	2	661	c.600G>A	c.(598-600)CCG>CCA	p.P200P	SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Silent_p.P200P|NFX1_uc003zso.2_Silent_p.P200P|NFX1_uc003zsp.1_Silent_p.P200P|NFX1_uc010mjr.1_Silent_p.P200P|NFX1_uc003zsr.2_Silent_p.P200P	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	200					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		CTCCAAAACCGGAGGATGCTG	0.468												
KIAA1161	57462	broad.mit.edu	37	9	34371970	34371970	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:34371970G>A	uc003zue.3	-	3	1139	c.972C>T	c.(970-972)TAC>TAT	p.Y324Y		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	hypothetical protein LOC57462	324	Extracellular (Potential).				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(1)|breast(1)|central_nervous_system(1)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGGCGCGCCCGTACAGCGCCC	0.597												
ENHO	375704	broad.mit.edu	37	9	34521556	34521556	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:34521556T>C	uc003zun.1	-	2	562	c.138A>G	c.(136-138)GAA>GAG	p.E46E	ENHO_uc003zuo.2_RNA	NM_198573	NP_940975	Q6UWT2	ENHO_HUMAN	adropin precursor	46						extracellular region					0						TGGGACTGGATTCAGAGAGAG	0.632												
KIAA1045	23349	broad.mit.edu	37	9	34976565	34976565	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:34976565A>G	uc003zvq.2	+	5	855	c.677A>G	c.(676-678)TAC>TGC	p.Y226C	KIAA1045_uc003zvr.2_Missense_Mutation_p.Y226C	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	226							calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)			TTTCTGCGTTACCGCCACCAA	0.637												
RUSC2	9853	broad.mit.edu	37	9	35547473	35547473	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:35547473G>A	uc003zww.2	+	2	1210	c.955G>A	c.(955-957)GCC>ACC	p.A319T	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.A319T	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	319						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGACCCTGGCGCCTTCTATCT	0.567												
GBA2	57704	broad.mit.edu	37	9	35737772	35737772	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:35737772G>A	uc003zxw.2	-	16	3002	c.2478C>T	c.(2476-2478)TAC>TAT	p.Y826Y	GBA2_uc003zxx.1_Silent_p.Y121Y|GBA2_uc011lpb.1_Silent_p.Y826Y|GBA2_uc011lpc.1_Silent_p.Y826Y|GBA2_uc011lpd.1_Silent_p.Y832Y	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	bile acid beta-glucosidase	826	Cytoplasmic (Potential).				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			ovary(3)|skin(1)	4	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGCCAGCCCGTAGACCACAC	0.537												
RGP1	9827	broad.mit.edu	37	9	35751682	35751682	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:35751682T>C	uc011lpf.1	+	7	834	c.693T>C	c.(691-693)TCT>TCC	p.S231S	GBA2_uc011lpb.1_5'Flank|GBA2_uc003zxw.2_5'Flank|GBA2_uc011lpc.1_5'Flank|GBA2_uc011lpd.1_5'Flank|RGP1_uc011lpe.1_Silent_p.S271S	NM_001080496	NP_001073965	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog	231										ovary(1)	1	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTCAAATCTGTGTACAGAC	0.488												
GNE	10020	broad.mit.edu	37	9	36246267	36246267	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:36246267A>G	uc010mlh.2	-	3	592	c.377T>C	c.(376-378)ATG>ACG	p.M126T	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.M126T|GNE_uc011lpl.1_Missense_Mutation_p.M67T|GNE_uc010mli.2_Missense_Mutation_p.M157T|GNE_uc010mlj.2_Missense_Mutation_p.M121T	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	126	UDP-N-acetylglucosamine 2-epimerase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity				0			STAD - Stomach adenocarcinoma(86;0.228)			TCGGATGTTCATCAAGGCAGC	0.478												
MCART1	92014	broad.mit.edu	37	9	37888456	37888456	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:37888456A>G	uc004aau.2	-	3	836	c.92T>C	c.(91-93)ATG>ACG	p.M31T	MCART1_uc004aar.1_Intron|MCART1_uc004aaq.1_Intron|uc004aat.1_5'Flank|MCART1_uc004aav.2_Missense_Mutation_p.M31T	NM_033412	NP_219480	Q9H1U9	MCAR1_HUMAN	mitochondrial carrier triple repeat 1	31	Solcar 1.				transport	integral to membrane|mitochondrial inner membrane				ovary(2)|breast(1)	3				GBM - Glioblastoma multiforme(29;0.00559)|Lung(182;0.0422)		GTAATGCTTCATCTCACCAAC	0.408												
CNTNAP3	79937	broad.mit.edu	37	9	39176052	39176052	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:39176052C>T	uc004abi.2	-	7	1204	c.965G>A	c.(964-966)CGG>CAG	p.R322Q	CNTNAP3_uc004abj.2_Missense_Mutation_p.R322Q|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.R322Q|CNTNAP3_uc011lqs.1_Missense_Mutation_p.R322Q|CNTNAP3_uc004abl.1_Missense_Mutation_p.R234Q	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	322	Extracellular (Potential).|Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCTGAATGCCCGCGATCTTCC	0.383												
C9orf135	138255	broad.mit.edu	37	9	72435828	72435828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:72435828G>A	uc004ahl.2	+	1	98	c.33G>A	c.(31-33)TGG>TGA	p.W11*	C9orf135_uc011lrw.1_Translation_Start_Site|C9orf135_uc010moq.2_Translation_Start_Site|C9orf135_uc011lrx.1_RNA|C9orf135_uc010mop.2_Nonsense_Mutation_p.W11*|uc004ahk.2_5'Flank	NM_001010940	NP_001010940	Q5VTT2	CI135_HUMAN	hypothetical protein LOC138255	11	Extracellular (Potential).					integral to membrane				ovary(1)	1						GCCAGGACTGGTGCGACAGGA	0.592												
TRPM6	140803	broad.mit.edu	37	9	77354736	77354736	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:77354736G>A	uc004ajl.1	-	34	5628	c.5390C>T	c.(5389-5391)CCG>CTG	p.P1797L	TRPM6_uc004ajk.1_Missense_Mutation_p.P1792L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Missense_Mutation_p.P748L|TRPM6_uc010mpd.1_Missense_Mutation_p.P630L|TRPM6_uc010mpe.1_Missense_Mutation_p.P344L|TRPM6_uc004ajj.1_Missense_Mutation_p.P753L	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	1797	Alpha-type protein kinase.|Cytoplasmic (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						AACTTGTCCCGGCTTGAGAAT	0.507												
PRUNE2	158471	broad.mit.edu	37	9	79469112	79469112	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:79469112G>A	uc010mpk.2	-	2	173	c.49C>T	c.(49-51)CGC>TGC	p.R17C	PRUNE2_uc004akn.2_Missense_Mutation_p.R17C	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	prune homolog 2	17					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity				0						TTCTCCAAGCGTTTGCTTCGA	0.338												
TLE1	7088	broad.mit.edu	37	9	84205815	84205815	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:84205815G>A	uc004aly.2	-	16	2175	c.1734C>T	c.(1732-1734)TAC>TAT	p.Y578Y	TLE1_uc004alz.2_Silent_p.Y588Y|TLE1_uc011lsr.1_Silent_p.Y563Y|TLE1_uc004ama.1_Silent_p.Y577Y	NM_005077	NP_005068	Q04724	TLE1_HUMAN	transducin-like enhancer protein 1	578	WD 3.				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2						TGGCCAGGGCGTAGCAGGCGG	0.617												
FLJ46321	389763	broad.mit.edu	37	9	84605984	84605984	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:84605984T>C	uc004amn.2	+	4	646	c.599T>C	c.(598-600)CTC>CCC	p.L200P		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	200	Pro-rich.					integral to membrane					0						CCCTTAATTCTCTCACCTGAC	0.552												
AUH	549	broad.mit.edu	37	9	94060317	94060317	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:94060317C>T	uc004arf.3	-	5	582	c.547G>A	c.(547-549)GCT>ACT	p.A183T	AUH_uc004arg.3_Missense_Mutation_p.A154T|AUH_uc011ltu.1_Missense_Mutation_p.A183T	NM_001698	NP_001689	Q13825	AUHM_HUMAN	AU RNA binding protein/enoyl-Coenzyme A	183					branched chain family amino acid catabolic process|mRNA catabolic process	mitochondrial matrix	enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding				0						CCACCTAAAGCGAGTCCATCT	0.343												
IPPK	64768	broad.mit.edu	37	9	95410357	95410357	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:95410357A>G	uc004asl.1	-	6	765	c.488T>C	c.(487-489)ATG>ACG	p.M163T		NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	163					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2						GTGCTGGTGCATGCAGTATCG	0.483												
ZNF367	195828	broad.mit.edu	37	9	99160514	99160514	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:99160514C>T	uc004awf.2	-	2	858	c.503G>A	c.(502-504)CGT>CAT	p.R168H	ZNF367_uc004awg.2_Missense_Mutation_p.R168H	NM_153695	NP_710162	Q7RTV3	ZN367_HUMAN	zinc finger protein 367	168	C2H2-type 1.				regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Acute lymphoblastic leukemia(62;0.0167)				GATGTTACAACGGATTCTGCT	0.433												
TSTD2	158427	broad.mit.edu	37	9	100380087	100380087	+	Silent	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:100380087G>T	uc004axn.2	-	4	1043	c.555C>A	c.(553-555)ATC>ATA	p.I185I	TSTD2_uc004axo.2_Translation_Start_Site|TSTD2_uc004axp.1_Translation_Start_Site	NM_139246	NP_640339	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like	185										ovary(2)	2						GCCAGGCACAGATCCATTGGG	0.512												
HEMGN	55363	broad.mit.edu	37	9	100693288	100693288	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:100693288T>C	uc004axy.2	-	3	497	c.389A>G	c.(388-390)GAG>GGG	p.E130G	HEMGN_uc004axz.2_Missense_Mutation_p.E130G	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	hemogen	130					cell differentiation|multicellular organismal development					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)				AAAGTGTTCCTCAGGCACAAC	0.403												
CORO2A	7464	broad.mit.edu	37	9	100895424	100895424	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:100895424C>T	uc004ayl.2	-	5	810	c.544G>A	c.(544-546)GTG>ATG	p.V182M	CORO2A_uc004aym.2_Missense_Mutation_p.V182M	NM_003389	NP_003380	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	182	WD 3.				actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			skin(2)|ovary(1)|pancreas(1)	4		Acute lymphoblastic leukemia(62;0.0559)				GAGAGGATCACATCTTGGTGA	0.542												
TBC1D2	55357	broad.mit.edu	37	9	101014085	101014085	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:101014085C>T	uc011lvb.1	-	2	673	c.493G>A	c.(493-495)GTC>ATC	p.V165I	TBC1D2_uc004ayq.2_Missense_Mutation_p.V165I|TBC1D2_uc004ayr.2_Intron|TBC1D2_uc004ayo.3_Missense_Mutation_p.V165I	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	165	Interaction with CADH1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			ovary(3)	3		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGTGCAGGACGGGCCCATTC	0.637												
PPP3R2	5535	broad.mit.edu	37	9	104357023	104357023	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:104357023C>T	uc004bbr.2	-	1	261	c.190G>A	c.(190-192)GTC>ATC	p.V64I	GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Intron	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	protein phosphatase 3 regulatory subunit B, beta	61	EF-hand 2.						calcium ion binding			ovary(1)|skin(1)	2		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	GTGTCGAAGACGTCGATCACT	0.567												
SLC44A1	23446	broad.mit.edu	37	9	108126852	108126852	+	Silent	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:108126852T>C	uc004bcn.2	+	10	1325	c.1104T>C	c.(1102-1104)AAT>AAC	p.N368N	SLC44A1_uc010mtk.1_Silent_p.N368N|SLC44A1_uc004bco.1_Silent_p.N160N	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	CDW92 antigen	368	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(3)|ovary(1)	4					Choline(DB00122)	CTGTTCAGAATGAGCAAGGCT	0.428												
ZNF483	158399	broad.mit.edu	37	9	114304716	114304716	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:114304716G>T	uc004bff.2	+	6	1725	c.1501G>T	c.(1501-1503)GGG>TGG	p.G501W	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	zinc finger protein 483 isoform a	501	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1						TGATGACTGTGGGAAAGGTTT	0.388												
C9orf84	158401	broad.mit.edu	37	9	114453877	114453877	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:114453877C>T	uc004bfr.2	-	25	4323	c.4188G>A	c.(4186-4188)AGG>AGA	p.R1396R	C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfq.2_Silent_p.R1357R|C9orf84_uc010mug.2_Silent_p.R1307R	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	hypothetical protein LOC158401 isoform 1	1396										ovary(2)	2						ATTCATGGTGCCTTTTCTGTC	0.313												
ZFP37	7539	broad.mit.edu	37	9	115805249	115805249	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:115805249C>T	uc004bgm.1	-	4	1677	c.1649G>A	c.(1648-1650)TGT>TAT	p.C550Y	ZFP37_uc011lwz.1_Missense_Mutation_p.C565Y|ZFP37_uc011lxa.1_Missense_Mutation_p.C551Y	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	zinc finger protein 37 homolog	550	C2H2-type 10.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2						GGCTTTCCCACATTCATTACA	0.378												
CEP110	11064	broad.mit.edu	37	9	123903687	123903687	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:123903687A>G	uc004bkx.1	+	16	2543	c.2512A>G	c.(2512-2514)AAA>GAA	p.K838E	CEP110_uc004bky.1_Missense_Mutation_p.K442E|CEP110_uc004bkz.1_Missense_Mutation_p.K286E|CEP110_uc004bla.1_Missense_Mutation_p.K286E|CEP110_uc010mvo.1_5'Flank	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	838					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0						TGTCTTAGGGAAAAGTCTTGC	0.383												
OR1L8	138881	broad.mit.edu	37	9	125330410	125330410	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:125330410A>G	uc004bmp.1	-	1	347	c.347T>C	c.(346-348)CTG>CCG	p.L116P		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L,	116	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3						CATGACTGCCAGAAGGCAGCT	0.527												
OR1K1	392392	broad.mit.edu	37	9	125562752	125562752	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:125562752G>A	uc011lze.1	+	1	351	c.351G>A	c.(349-351)GCG>GCA	p.A117A		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K,	117	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						GTCTTCTGGCGGCCATGGCCT	0.612												
NR5A1	2516	broad.mit.edu	37	9	127262453	127262453	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:127262453G>A	uc004boo.1	-	4	973	c.786C>T	c.(784-786)TTC>TTT	p.F262F		NM_004959	NP_004950	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	262	Important for dimerization.|Ligand-binding.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding				0						ACAGGAGGCCGAAGGCCGCCG	0.662												
RABEPK	10244	broad.mit.edu	37	9	127965332	127965332	+	Missense_Mutation	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:127965332A>G	uc004bpi.2	+	3	213	c.40A>G	c.(40-42)AGG>GGG	p.R14G	RABEPK_uc004bph.1_Missense_Mutation_p.R14G|RABEPK_uc004bpj.2_Missense_Mutation_p.R14G|RABEPK_uc004bpk.2_Missense_Mutation_p.R14G|RABEPK_uc004bpl.1_Missense_Mutation_p.R14G|RABEPK_uc004bpm.2_Missense_Mutation_p.R14G	NM_005833	NP_005824	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	14					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				ovary(1)	1						AGACAAGCCCAGGAAAGCAAC	0.363												
SPTAN1	6709	broad.mit.edu	37	9	131346761	131346761	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:131346761G>A	uc004bvl.3	+	17	2507	c.2394G>A	c.(2392-2394)ACG>ACA	p.T798T	SPTAN1_uc011mbg.1_Silent_p.T798T|SPTAN1_uc011mbh.1_Silent_p.T810T|SPTAN1_uc004bvm.3_Silent_p.T798T|SPTAN1_uc004bvn.3_Silent_p.T798T	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	798	Spectrin 9.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			breast(5)|ovary(4)|pancreas(1)	10						ATGAGGAGACGTGGATTCGAG	0.547												
ZER1	10444	broad.mit.edu	37	9	131503159	131503159	+	Missense_Mutation	SNP	G	G	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:131503159G>T	uc004bwa.1	-	12	2178	c.1745C>A	c.(1744-1746)CCA>CAA	p.P582Q		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	zyg-11 homolog B (C. elegans)-like	582	ARM 3.				ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			ovary(1)	1						CTGCTTCTCTGGGAATTCCTG	0.463												
LRRC8A	56262	broad.mit.edu	37	9	131671140	131671140	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:131671140G>A	uc004bwl.3	+	3	1951	c.1697G>A	c.(1696-1698)GGC>GAC	p.G566D	LRRC8A_uc010myp.2_Missense_Mutation_p.G566D|LRRC8A_uc010myq.2_Missense_Mutation_p.G566D	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member	566	LRR 8.				pre-B cell differentiation	integral to membrane					0						ACAGATGTGGGCGTGCACCTG	0.577												
NUP188	23511	broad.mit.edu	37	9	131764178	131764178	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:131764178G>A	uc004bws.1	+	36	4082	c.4060G>A	c.(4060-4062)GCT>ACT	p.A1354T	NUP188_uc004bwu.2_Missense_Mutation_p.A697T	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1354					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1)	7						CACAGCAGTGGCTGGAGCTGG	0.597												
TOR1A	1861	broad.mit.edu	37	9	132576463	132576463	+	Missense_Mutation	SNP	T	T	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:132576463T>C	uc004byl.2	-	5	864	c.787A>G	c.(787-789)ATT>GTT	p.I263V	TOR1A_uc004bym.2_RNA	NM_000113	NP_000104	O14656	TOR1A_HUMAN	torsin A precursor	263					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)	1		Ovarian(14;0.00556)				AAATAATCAATGAGGTTCCGG	0.478												
MED27	9442	broad.mit.edu	37	9	134955187	134955187	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:134955187G>A	uc004cbe.1	-	1	67	c.45C>T	c.(43-45)TCC>TCT	p.S15S	MED27_uc004cbf.1_Silent_p.S15S|MED27_uc011mco.1_Silent_p.S15S|MED27_uc004cbg.3_Silent_p.S15S	NM_004269	NP_004260	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	15					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			skin(1)	1		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TAATGGCCTGGGAAAAGGCCT	0.617												
RALGDS	5900	broad.mit.edu	37	9	135976954	135976954	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:135976954G>A	uc004cco.2	-	16	2427	c.2407C>T	c.(2407-2409)CGC>TGC	p.R803C	RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccn.2_5'UTR|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Missense_Mutation_p.R791C|RALGDS_uc004ccr.2_Missense_Mutation_p.R802C|RALGDS_uc011mcv.1_Missense_Mutation_p.R774C|RALGDS_uc004ccs.2_Missense_Mutation_p.R748C|RALGDS_uc011mcw.1_Missense_Mutation_p.R874C|RALGDS_uc004ccv.1_Missense_Mutation_p.P630L|RALGDS_uc004ccu.1_Missense_Mutation_p.R572C	NM_006266	NP_006257	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	803	Ras-associating.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			large_intestine(1)|lung(1)|ovary(1)	3				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGGCTGACGCGGATGATACAG	0.642			T	CIITA	PMBL|Hodgkin Lymphona|							
CAMSAP1	157922	broad.mit.edu	37	9	138714882	138714882	+	Missense_Mutation	SNP	A	A	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:138714882A>C	uc004cgr.3	-	11	1625	c.1625T>G	c.(1624-1626)CTT>CGT	p.L542R	CAMSAP1_uc004cgq.3_Missense_Mutation_p.L432R|CAMSAP1_uc010nbg.2_Missense_Mutation_p.L264R	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein	542						cytoplasm|microtubule				ovary(1)|central_nervous_system(1)|pancreas(1)	3				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		AATAGCCACAAGCTCCTCTTC	0.592												
LHX3	8022	broad.mit.edu	37	9	139091594	139091594	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:139091594G>A	uc004cha.2	-	3	481	c.384C>T	c.(382-384)GGC>GGT	p.G128G	LHX3_uc004cgz.2_Silent_p.G133G	NM_178138	NP_835258	Q9UBR4	LHX3_HUMAN	LIM homeobox protein 3 isoform a	128	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		AGAACTCGTCGCCCGTGGCCA	0.667												
PTGDS	5730	broad.mit.edu	37	9	139873455	139873455	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:139873455G>A	uc004cke.2	+	2	200	c.125G>A	c.(124-126)CGC>CAC	p.R42H	PTGDS_uc004ckd.2_RNA|PTGDS_uc004ckf.2_RNA	NM_000954	NP_000945	P41222	PTGDS_HUMAN	prostaglandin D2 synthase, brain	42					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			ovary(1)	1	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTCCTGGGGCGCTGGTTCAGC	0.711												
ABCA2	20	broad.mit.edu	37	9	139905912	139905912	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:139905912C>T	uc011mem.1	-	36	5891	c.5743G>A	c.(5743-5745)GGC>AGC	p.G1915S	ABCA2_uc011mel.1_Missense_Mutation_p.G1916S|ABCA2_uc004ckl.1_Missense_Mutation_p.G1846S|ABCA2_uc004ckm.1_Missense_Mutation_p.G1946S	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	1915	Helical; (Potential).				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances				0	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCGGTGATGCCGATGAAGAGA	0.632												
MAN1B1	11253	broad.mit.edu	37	9	139983450	139983450	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:139983450C>T	uc004cld.2	+	3	493	c.458C>T	c.(457-459)TCG>TTG	p.S153L	MAN1B1_uc004clc.2_Missense_Mutation_p.S54L|MAN1B1_uc011meo.1_Missense_Mutation_p.S54L|MAN1B1_uc011mep.1_Missense_Mutation_p.S153L|MAN1B1_uc010ncc.2_RNA|LOC100289341_uc004clb.3_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	alpha 1,2-mannosidase	153	Lumenal (Potential).				oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			ovary(1)|central_nervous_system(1)	2	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		CCTGAGATTTCGTCACAGGTA	0.458												
FAM166A	401565	broad.mit.edu	37	9	140139864	140139864	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:140139864G>A	uc004cmi.1	-	3	472	c.417C>T	c.(415-417)TGC>TGT	p.C139C		NM_001001710	NP_001001710	Q6J272	F166A_HUMAN	hypothetical protein LOC401565	139										ovary(1)	1						TGCCTGGTGGGCACGGAGGGT	0.652												
PNPLA7	375775	broad.mit.edu	37	9	140437937	140437937	+	Silent	SNP	G	G	A	rs139510260	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:140437937G>A	uc004cnf.2	-	5	715	c.378C>T	c.(376-378)GAC>GAT	p.D126D	PNPLA7_uc010ncj.1_Silent_p.D151D	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	126					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			skin(1)	1	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AATTCTTCACGTCAAACTCCG	0.602												
CSF2RA	1438	broad.mit.edu	37	X	1413254	1413254	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:1413254G>A	uc010nct.2	+	9	1002	c.680G>A	c.(679-681)CGT>CAT	p.R227H	CSF2RA_uc011mhb.1_Missense_Mutation_p.R227H|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.R227H|CSF2RA_uc004cpo.2_Missense_Mutation_p.R227H|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.R94H|CSF2RA_uc004cpp.2_Missense_Mutation_p.R227H|CSF2RA_uc010ncv.2_Missense_Mutation_p.R227H|CSF2RA_uc004cpr.2_Missense_Mutation_p.R227H	NM_001161529	NP_001155001	P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor alpha chain	227	Extracellular (Potential).					extracellular region|integral to plasma membrane	cytokine receptor activity			ovary(2)	2		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTCACCGTACGTTGCAACACG	0.572												
SLC25A6	293	broad.mit.edu	37	X	1508411	1508411	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:1508411C>T	uc004cpt.2	-	2	417	c.321G>A	c.(319-321)ACG>ACA	p.T107T	SLC25A6_uc004cpu.2_RNA	NM_001636	NP_001627	P12236	ADT3_HUMAN	adenine nucleotide translocator 3	107				KHTQ -> RHA (in Ref. 5; AAA36750).	active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding				0		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	TCCAGAACTGCGTGTGCTTGT	0.612												
SHROOM2	357	broad.mit.edu	37	X	9864465	9864465	+	Silent	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:9864465G>A	uc004csu.1	+	4	2607	c.2517G>A	c.(2515-2517)ACG>ACA	p.T839T		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	apical protein of Xenopus-like	839					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1)	8		Hepatocellular(5;0.000888)				GTGAGGGCACGGAGCCCTGGT	0.667												
MED14	9282	broad.mit.edu	37	X	40572274	40572274	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:40572274G>A	uc004dex.3	-	6	813	c.673C>T	c.(673-675)CGT>TGT	p.R225C	MED14_uc010nhe.1_Missense_Mutation_p.R109C	NM_004229	NP_004220	O60244	MED14_HUMAN	mediator complex subunit 14	225	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(2)|kidney(1)|skin(1)	4						CCTTCAACACGAAACTTCACC	0.408												
PORCN	64840	broad.mit.edu	37	X	48374500	48374500	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:48374500G>A	uc010nie.1	+	13	1297	c.1139G>A	c.(1138-1140)CGG>CAG	p.R380Q	PORCN_uc004djr.1_Missense_Mutation_p.R375Q|PORCN_uc004djs.1_Missense_Mutation_p.R369Q|PORCN_uc004djt.1_Missense_Mutation_p.R298Q|PORCN_uc011mlx.1_Missense_Mutation_p.R298Q|PORCN_uc004dju.1_Missense_Mutation_p.R238Q|PORCN_uc004djv.1_Missense_Mutation_p.R380Q|PORCN_uc004djw.1_Missense_Mutation_p.R374Q	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	porcupine isoform D	380	Extracellular (Potential).				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			ovary(2)|central_nervous_system(1)	3						TTGTCAAAGCGGTGCCCGCCA	0.592												
KDM5C	8242	broad.mit.edu	37	X	53225096	53225096	+	Splice_Site	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:53225096A>G	uc004drz.2	-	20	3653	c.3120_splice	c.e20+1	p.Q1040_splice	KDM5C_uc011moc.1_Splice_Site|KDM5C_uc011mod.1_Splice_Site_p.Q973_splice|KDM5C_uc004dsa.2_Splice_Site_p.Q1039_splice	NM_004187	NP_004178	P41229	KDM5C_HUMAN	jumonji, AT rich interactive domain 1C isoform						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						CAGGGTCCTCACTTGGATCTC	0.577			N|F|S		clear cell renal carcinoma							
AR	367	broad.mit.edu	37	X	66905888	66905888	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:66905888G>A	uc004dwu.1	+	3	2920	c.1805G>A	c.(1804-1806)TGC>TAC	p.C602Y	AR_uc011mpd.1_Missense_Mutation_p.C602Y|AR_uc011mpe.1_RNA|AR_uc011mpf.1_Missense_Mutation_p.C602Y|AR_uc004dwv.1_Missense_Mutation_p.C70Y	NM_000044	NP_000035	P10275	ANDR_HUMAN	androgen receptor isoform 1	601	NR C4-type.|Interaction with HIPK3 (By similarity).|Nuclear receptor.		C -> F (in AIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(3)|lung(2)|breast(2)|central_nervous_system(1)	8	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AGAAATGATTGCACTATTGAT	0.398									Androgen_Insensitivity_Syndrome			
CDX4	1046	broad.mit.edu	37	X	72667289	72667289	+	Missense_Mutation	SNP	C	C	T	rs145092385	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:72667289C>T	uc011mqk.1	+	1	200	c.200C>T	c.(199-201)CCG>CTG	p.P67L		NM_005193	NP_005184	O14627	CDX4_HUMAN	caudal type homeobox 4	67						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Renal(35;0.156)					CCTCACTGGCCGTCTCTGGGA	0.612												
BRWD3	254065	broad.mit.edu	37	X	79978130	79978130	+	Missense_Mutation	SNP	G	G	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:79978130G>A	uc004edt.2	-	17	2070	c.1807C>T	c.(1807-1809)CGG>TGG	p.R603W	BRWD3_uc010nmi.1_5'Flank|BRWD3_uc004edo.2_Missense_Mutation_p.R199W|BRWD3_uc004edp.2_Missense_Mutation_p.R432W|BRWD3_uc004edq.2_Missense_Mutation_p.R199W|BRWD3_uc010nmj.1_Missense_Mutation_p.R199W|BRWD3_uc004edr.2_Missense_Mutation_p.R273W|BRWD3_uc004eds.2_Missense_Mutation_p.R199W|BRWD3_uc004edu.2_Missense_Mutation_p.R273W|BRWD3_uc004edv.2_Missense_Mutation_p.R199W|BRWD3_uc004edw.2_Missense_Mutation_p.R199W|BRWD3_uc004edx.2_Missense_Mutation_p.R199W|BRWD3_uc004edy.2_Missense_Mutation_p.R199W|BRWD3_uc004edz.2_Missense_Mutation_p.R273W|BRWD3_uc004eea.2_Missense_Mutation_p.R273W|BRWD3_uc004eeb.2_Missense_Mutation_p.R199W	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	603										ovary(4)	4						GGTACCAACCGTTGGAATTTT	0.398												
RPS6KA6	27330	broad.mit.edu	37	X	83352808	83352808	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:83352808C>A	uc004eej.1	-	19	1902	c.1825G>T	c.(1825-1827)GGA>TGA	p.G609*	RPS6KA6_uc011mqt.1_Nonsense_Mutation_p.G609*|RPS6KA6_uc011mqu.1_Nonsense_Mutation_p.G506*	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase polypeptide 6	609	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			lung(5)|stomach(1)|central_nervous_system(1)|skin(1)	8						AAAAGGACTCCTAAACTCCAG	0.313												
BHLHB9	80823	broad.mit.edu	37	X	102005402	102005402	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:102005402C>T	uc010nog.2	+	4	2050	c.1479C>T	c.(1477-1479)ATC>ATT	p.I493I	BHLHB9_uc011mrq.1_Silent_p.I493I|BHLHB9_uc011mrr.1_Silent_p.I493I|BHLHB9_uc011mrs.1_Silent_p.I493I|BHLHB9_uc011mrt.1_Silent_p.I493I|BHLHB9_uc004ejo.2_Silent_p.I493I|BHLHB9_uc011mru.1_Silent_p.I493I|BHLHB9_uc011mrv.1_Silent_p.I493I	NM_001142526	NP_001135998	Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class	493						cytoplasm|nucleus	binding			ovary(2)	2						TAAAACTCATCTTTAACCAGA	0.358												
PLP1	5354	broad.mit.edu	37	X	103041549	103041549	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:103041549C>T	uc010nov.2	+	4	627	c.347C>T	c.(346-348)ACG>ATG	p.T116M	RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.T116M|PLP1_uc004elj.2_Missense_Mutation_p.T116M|PLP1_uc011msf.1_Missense_Mutation_p.T61M|PLP1_uc010now.1_Missense_Mutation_p.T120M|PLP1_uc010nox.2_Missense_Mutation_p.T70M	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	proteolipid protein 1 isoform 1	116	Cytoplasmic (Probable).		T -> K (in HLD1).		cell death|synaptic transmission	integral to membrane				ovary(1)	1						CTGAGCGCAACGGTAACAGGG	0.597												
H2BFWT	158983	broad.mit.edu	37	X	103267317	103267317	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:103267317A>G	uc004elr.2	-	2	519	c.495T>C	c.(493-495)ACT>ACC	p.T165T		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	165					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			ovary(1)	1						catacagtgaagttctggaaa	0.194												
NRK	203447	broad.mit.edu	37	X	105189887	105189887	+	Silent	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:105189887C>T	uc004emd.2	+	25	4386	c.4083C>T	c.(4081-4083)GAC>GAT	p.D1361D	NRK_uc011msi.1_5'Flank	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1361	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						AATCAGCAGACTCTGAAGGAG	0.438										HNSCC(51;0.14)		
RBMX	27316	broad.mit.edu	37	X	135958813	135958813	+	Silent	SNP	A	A	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:135958813A>G	uc004fae.1	-	5	600	c.390T>C	c.(388-390)GAT>GAC	p.D130D	RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Silent_p.D130D|RBMX_uc011mwg.1_Silent_p.D91D|RBMX_uc004faf.1_5'UTR|RBMX_uc010nsf.1_Silent_p.D91D|RBMX_uc004fag.1_Silent_p.D2D	NM_002139	NP_002130	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked isoform 1	130						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)					ATCCACCGTCATCTGCATCAA	0.318												
MAGEC1	9947	broad.mit.edu	37	X	140994236	140994236	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:140994236C>T	uc004fbt.2	+	4	1332	c.1046C>T	c.(1045-1047)ACT>ATT	p.T349I	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	349							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTCCTCTACTTTATTGAGT	0.478										HNSCC(15;0.026)		
RPS4Y1	6192	broad.mit.edu	37	Y	2713761	2713761	+	Missense_Mutation	SNP	C	C	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrY:2713761C>T	uc004fqi.2	+	4	380	c.337C>T	c.(337-339)CGC>TGC	p.R113C		NM_001008	NP_000999	P22090	RS4Y1_HUMAN	ribosomal protein S4, Y-linked 1 Y isoform	113					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome				0						TGCTGTTCACCGCATCACAGT	0.458												
TBL1Y	90665	broad.mit.edu	37	Y	6954381	6954381	+	Missense_Mutation	SNP	C	C	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrY:6954381C>A	uc004frb.2	+	16	1850	c.1203C>A	c.(1201-1203)AGC>AGA	p.S401R	TBL1Y_uc004frc.2_Missense_Mutation_p.S401R|TBL1Y_uc004frd.2_Missense_Mutation_p.S401R|TBL1Y_uc011nap.1_Missense_Mutation_p.S243R	NM_033284	NP_150600	Q9BQ87	TBL1Y_HUMAN	transducin beta-like 1Y	401	WD 6.				transcription, DNA-dependent						0						AGGCTCACAGCAAAGAGATCT	0.562												
KDM5D	8284	broad.mit.edu	37	Y	21869171	21869171	+	Missense_Mutation	SNP	A	A	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrY:21869171A>T	uc004fug.2	-	24	4149	c.3861T>A	c.(3859-3861)GAT>GAA	p.D1287E	KDM5D_uc011naz.1_Missense_Mutation_p.D1318E|KDM5D_uc010nwy.2_Missense_Mutation_p.D1230E|KDM5D_uc004fuf.2_Missense_Mutation_p.D462E	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	jumonji, AT rich interactive domain 1D isoform	1287					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			skin(1)	1					Vitamin C(DB00126)	GAGCAGTCACATCTTCAGAGG	0.612												
ROR1	4919	broad.mit.edu	37	1	64516359	64516359	+	Splice_Site	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:64516358_64516358GC>G	uc001dbj.2	+	4	851	c.452_splice	c.e4-1	p.G151_splice	ROR1_uc001dbi.4_Splice_Site_p.G151_splice	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	151					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATTTCTTCAGGCCCCCCTCCC	0.398												
PSME4	23198	broad.mit.edu	37	2	54167140	54167140	+	Splice_Site	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:54167139_54167139TG>T	uc002rxp.2	-	4	557	c.501_splice	c.e4-1	p.N167_splice	PSME4_uc010yop.1_Splice_Site_p.N53_splice|PSME4_uc010yoq.1_Splice_Site|PSME4_uc010fbu.1_Splice_Site|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Intron	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	167					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAA	0.348												
DTNBP1	84062	broad.mit.edu	37	6	15638038	15638038	+	Splice_Site	DEL	A	A	-	rs140124163		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:15638037_15638037TA>T	uc003nbm.3	-	4	351	c.162_splice	c.e4-1	p.R54_splice	DTNBP1_uc003nbl.3_Splice_Site|DTNBP1_uc010jph.3_Splice_Site_p.R41_splice|DTNBP1_uc003nbp.3_Splice_Site_p.R54_splice	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	54					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCCTCATACCTAAAAAAAAGC	0.363									Hermansky-Pudlak syndrome			
EYA1	2138	broad.mit.edu	37	8	72123392	72123392	+	Splice_Site	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:72123391_72123391CT>C	uc003xyu.3	-	17	2338	c.1698_splice	c.e17+1	p.K566_splice	EYA1_uc003xyt.4_Splice_Site_p.K533_splice|EYA1_uc003xyr.4_Splice_Site_p.K531_splice|EYA1_uc010lzf.3_Splice_Site_p.K493_splice|EYA1_uc003xys.4_Splice_Site_p.K566_splice|EYA1_uc011lfe.2_Splice_Site_p.K560_splice|EYA1_uc003xyv.3_Splice_Site_p.K444_splice	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	566					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAATGCTCACCTTTTTTGCTC	0.358												
TMEM55A	55529	broad.mit.edu	37	8	92020972	92020972	+	Splice_Site	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:92020971_92020971AT>A	uc003yes.3	-	5	765	c.539_splice	c.e5+1	p.I180_splice		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	Homo sapiens transmembrane protein 55A (TMEM55A), mRNA.	180						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	p.I180fs*6(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			GGGAACTTACATTTTTTTGCA	0.318												
DPEP2	64174	broad.mit.edu	37	16	68026099	68026100	+	Splice_Site	INS	-	-	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:68026098_68026099T>TG	uc010cey.3	-	3	555	c.391_splice	c.e3-1	p.F131_splice	DPEP2_uc002eve.3_Splice_Site_p.F131_splice|DPEP2_uc002evf.3_Splice_Site|DPEP2_uc002evg.3_Intron	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	131					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGACCAGAACTGGGGGGAAGGC	0.634												
SEMA4B	10509	broad.mit.edu	37	15	90768580	90768582	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:90768580_90768582delTCT	uc002boy.2	+	12	1755_1757	c.1472_1474delTCT	c.(1471-1476)ATCTTC>ATC	p.F492del	SEMA4B_uc002boz.2_In_Frame_Del_p.F492del|SEMA4B_uc010uqd.1_In_Frame_Del_p.F330del|SEMA4B_uc002bpa.2_In_Frame_Del_p.F330del|SEMA4B_uc010bnv.1_In_Frame_Del_p.F130del	NM_020210	NP_064595			semaphorin 4B precursor											ovary(1)|breast(1)|kidney(1)	3	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GAGCTGCAGATCTTCTCATCGGG	0.640												
AMH	268	broad.mit.edu	37	19	2249675	2249676	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:2249675_2249676delTA	uc002lvh.2	+	1	563_564	c.344_345delTA	c.(343-345)CTAfs	p.L115fs	hsa-mir-4321|MI0015852_5'Flank	NM_000479	NP_000470	P03971	MIS_HUMAN	anti-Mullerian hormone precursor	115					cell differentiation|cell-cell signaling|gonadal mesoderm development|Mullerian duct regression|positive regulation of gene expression|sex determination	extracellular space	growth factor activity|hormone 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)		TTGCCCTCTCTACGGCGGCTGG	0.728									Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			
TRIO	7204	broad.mit.edu	37	5	14488156	14488156	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:14488156delC	uc003jff.2	+	48	7425	c.7419delC	c.(7417-7419)TTCfs	p.F2473fs	TRIO_uc003jfg.2_Intron|TRIO_uc003jfh.1_Frame_Shift_Del_p.F2122fs	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2473					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)					AGGAGCCCTTCCCCCCCAGCA	0.746												
MAGEE2	139599	broad.mit.edu	37	X	75004754	75004754	+	Frame_Shift_Del	DEL	G	G	-	rs61732441	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:75004754delG	uc004ecj.1	-	1	318	c.133delC	c.(133-135)CAGfs	p.Q45fs		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	45										ovary(1)|skin(1)	2						TGAGGGCACTGGGGGGCATCA	0.587												
ZBTB48	3104	broad.mit.edu	37	1	6640765	6640765	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:6640764_6640764TG>T	uc009vmc.2	+	1	218	c.95_95TG>T	c.(94-96)gtgfs	p.V32fs	ZBTB48_uc001anx.3_Frame_Shift_Del_p.V32fs|ZBTB48_uc009vmd.2_Frame_Shift_Del_p.V32fs	NM_005341	NP_005332	P10074	ZBT48_HUMAN	Homo sapiens zinc finger and BTB domain containing 48 (ZBTB48), mRNA.	32	BTB.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		ACTCTGGACGTGGGGGGCCTG	0.612												
FBLIM1	54751	broad.mit.edu	37	1	16093879	16093879	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:16093878_16093878AC>A	uc001axd.1	+	4	701	c.258_258AC>A	c.(256-258)ccafs	p.P86fs	FBLIM1_uc001axe.1_Frame_Shift_Del_p.P86fs|FBLIM1_uc001axg.1_Frame_Shift_Del_p.P86fs|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	86	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CAGGATGCCCACCCCCTCCTC	0.622												
ZBTB17	7709	broad.mit.edu	37	1	16268477	16268477	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:16268476_16268476CG>C	uc001axl.4	-	15	2639	c.2400_2400CG>G	c.(2398-2400)ccgfs	p.P800fs	ZBTB17_uc010obs.2_Frame_Shift_Del_p.P724fs|ZBTB17_uc010obq.2_Frame_Shift_Del_p.P718fs|ZBTB17_uc010obr.2_Frame_Shift_Del_p.P807fs	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	Homo sapiens zinc finger and BTB domain containing 17 (ZBTB17), transcript variant 2, mRNA.	800	Interaction with HCFC1.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCGGCAGGCGGGGGACATT	0.627												
LYPLA2	11313	broad.mit.edu	37	1	24119502	24119502	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:24119501_24119501AT>A	uc001bht.3	+	2	203	c.82_82AT>A	c.(82-84)attfs	p.I28fs		NM_007260	NP_009191	O95372	LYPA2_HUMAN	Homo sapiens lysophospholipase II (LYPLA2), mRNA.	28					fatty acid metabolic process	cytoplasm	hydrolase activity			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TTTCCAGGTTATTTTTTTACA	0.582												
STIL	6491	broad.mit.edu	37	1	47717309	47717309	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:47717308_47717308AT>A	uc001crd.1	-	16	3522	c.3367_3367AT>T	c.(3367-3369)tatfs	p.Y1123fs	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Frame_Shift_Del_p.Y1076fs|STIL_uc010omo.1_Frame_Shift_Del_p.Y1105fs|STIL_uc001crc.1_Frame_Shift_Del_p.Y1122fs|STIL_uc001cre.1_Frame_Shift_Del_p.Y1122fs	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	1122					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTCTTCATATATTTTTTGGTT	0.373												
ROR1	4919	broad.mit.edu	37	1	64516359	64516359	+	Splice_Site	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:64516358_64516358GC>G	uc001dbj.2	+	4	851	c.452_splice	c.e4-1	p.G151_splice	ROR1_uc001dbi.4_Splice_Site_p.G151_splice	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	151					transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ATTTCTTCAGGCCCCCCTCCC	0.398												
ROR1	4919	broad.mit.edu	37	1	64608186	64608187	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:64608185_64608186C>CCA	uc001dbj.2	+	6	1425_1426	c.1026_1027C>CCA	c.(1024-1029)ccccacfs	p.P342fs	ROR1_uc001dbi.4_Frame_Shift_Ins_p.P342fs|AK096291_uc001dbl.3_Intron	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	342	Kringle.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCCAGTATCCCCACACACACAC	0.554												
LPHN2	23266	broad.mit.edu	37	1	82447518	82447519	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:82447517_82447518C>CT	uc001dit.4	+	17	3269_3270	c.3088_3089C>CT	c.(3088-3090)cttfs	p.L1030fs	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Frame_Shift_Ins_p.L1030fs|LPHN2_uc001div.3_Frame_Shift_Ins_p.L1030fs|LPHN2_uc009wcd.3_Frame_Shift_Ins_p.L1030fs|LPHN2_uc001diw.3_Frame_Shift_Ins_p.L614fs|LPHN2_uc009wce.1_Frame_Shift_Ins_p.L131fs	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1043					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.A1029T(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGCTTTCGCTCTTCTGTGTCTT	0.386												
GBP7	388646	broad.mit.edu	37	1	89613322	89613323	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:89613321_89613322G>GC	uc001dna.2	-	7	1432_1433	c.1293_1294C>GC	c.(1291-1296)gggcacfs	p.G431fs	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	431						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436												
RBM15	64783	broad.mit.edu	37	1	110882873	110882873	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:110882872_110882872AC>A	uc001dzl.1	+	0	928	c.845_845AC>A	c.(844-846)cacfs	p.H282fs	RBM15_uc001dzm.1_Frame_Shift_Del_p.H282fs|LOC440600_uc001dzj.3_5'Flank|RBM15_uc021orn.1_Frame_Shift_Del_p.H282fs	NM_022768	NP_073605	Q96T37	RBM15_HUMAN	Homo sapiens RNA binding motif protein 15 (RBM15), transcript variant 1, mRNA.	282					interspecies interaction between organisms	nucleus	RNA binding|nucleotide binding|protein binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGTCACCGGCACCCCCCTGGA	0.622			T	MKL1	acute megakaryocytic leukemia							
SV2A	9900	broad.mit.edu	37	1	149885019	149885020	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:149885018_149885019G>GC	uc001etg.3	-	1	865_866	c.374_375C>GC	c.(373-375)ggcfs	p.G125fs	SV2A_uc001eth.2_Frame_Shift_Ins_p.G125fs	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	125					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CATCACTCAAGCCCCCCCTTAC	0.629												
GON4L	54856	broad.mit.edu	37	1	155823103	155823103	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:155823102_155823102GA>G	uc001flz.2	-	1	567	c.470_470TC>C	c.(469-471)tcafs	p.S157fs	GON4L_uc001fly.1_Frame_Shift_Del_p.S157fs|GON4L_uc009wrh.1_Frame_Shift_Del_p.S157fs|GON4L_uc001fma.1_Frame_Shift_Del_p.S157fs|GON4L_uc001fmc.3_Frame_Shift_Del_p.S157fs|GON4L_uc001fmd.4_Frame_Shift_Del_p.S157fs|GON4L_uc009wri.3_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	157					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGGCTCTCCTGAAAAAGGCTC	0.448												
F5	2153	broad.mit.edu	37	1	169510827	169510828	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:169510826_169510827T>TG	uc001ggg.1	-	12	3646_3647	c.3501_3502A>CA	c.(3499-3504)cccacafs	p.P1167fs		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1167	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.P1167T(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CTTATATCTGTGGGGAAGGACT	0.500												
C1orf49	84066	broad.mit.edu	37	1	178489957	178489957	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:178489956_178489956CA>C	uc001glt.2	+	6	602	c.490_490CA>C	c.(490-492)caafs	p.Q164fs	C1orf49_uc021pfd.1_Frame_Shift_Del_p.Q164fs|C1orf49_uc001glu.1_Frame_Shift_Del_p.Q164fs|C1orf49_uc021pfe.1_Frame_Shift_Del_p.Q164fs|C1orf49_uc001glw.2_Frame_Shift_Del_p.Q172fs|C1orf49_uc001glv.1_Non-coding_Transcript	NM_032126	NP_115502	Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 1, mRNA.	164						microtubule cytoskeleton				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						GATGGCACCACAAAAAACAAA	0.552												
CR1L	1379	broad.mit.edu	37	1	207850873	207850873	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:207850872_207850872TA>T	uc001hga.4	+	1	357	c.236_236TA>T	c.(235-237)ctafs	p.L79fs	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	79	Sushi 1.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATCATCTGCCTAAAAAACTCA	0.438												
WNT9A	7483	broad.mit.edu	37	1	228111954	228111954	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:228111953_228111953GC>G	uc001hri.2	-	2	589	c.501_501GC>C	c.(499-501)ggcfs	p.G167fs		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	167					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity	p.G167fs*38(1)|p.C168fs*6(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGTCTCCGCAGCCCCCCCACT	0.632												
SLC35F3	148641	broad.mit.edu	37	1	234444860	234444860	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:234444859_234444859AT>A	uc001hvy.1	+	3	766	c.621_621AT>A	c.(619-621)cgafs	p.R207fs	SLC35F3_uc001hwa.1_Frame_Shift_Del_p.R138fs	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	138					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			AATGCTGTCGATTTTTTGGAG	0.378												
LYST	1130	broad.mit.edu	37	1	235969716	235969716	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:235969715_235969715TA>T	uc001hxj.2	-	5	2896	c.2721_2721TA>A	c.(2719-2721)ttafs	p.L907fs	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Frame_Shift_Del_p.L907fs	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	907					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TACTTACGCATAAAAAAGCCA	0.433												
OR2C3	81472	broad.mit.edu	37	1	247695193	247695194	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr1:247695192_247695193C>CA	uc021pmb.1	-	0	621_622	c.621_622G>TG	c.(619-624)tttgttfs	p.F207fs	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Frame_Shift_Ins_p.F207fs	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	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)			GGCAGGACAACAAAGACAAAGC	0.540												
C2orf42	54980	broad.mit.edu	37	2	70402811	70402812	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:70402810_70402811C>CT	uc002sgh.3	-	4	1361_1362	c.1033_1034G>AG	c.(1033-1035)aggfs	p.R345fs		NM_017880	NP_060350	Q9NWW7	CB042_HUMAN	Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.	345										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CTTACCCTGCCTTTTTAACGAG	0.450												
FBLN7	129804	broad.mit.edu	37	2	112940399	112940399	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:112940398_112940398AG>A	uc002tho.1	+	5	972	c.701_701AG>A	c.(700-702)gagfs	p.E234fs	FBLN7_uc010fki.1_Frame_Shift_Del_p.E188fs|FBLN7_uc010fkj.1_Intron	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	234	EGF-like 2; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TACGGGCAGGAGGGGCGCCCC	0.617												
CRYGD	1421	broad.mit.edu	37	2	209025577	209025577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:209025576_209025576AC>A	uc002vcq.4	-	2	494	c.477_477GT>T	c.(475-477)ggtfs	p.G159fs	CRYGD_uc021vvu.1_Intron	NM_014617	NP_055432	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma A (CRYGA), mRNA.	159	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		TGGCATCTGCACCCCCCCAGT	0.527												
COL4A4	1286	broad.mit.edu	37	2	227914822	227914822	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr2:227914821_227914821AG>A	uc021vxr.1	-	32	3278	c.3177_3177CT>T	c.(3175-3177)cctfs	p.P1059fs	COL4A4_uc021vxs.1_Frame_Shift_Del_p.P1059fs	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1059	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CTGAAAATCCAGGGGGACCTG	0.423												
EOMES	8320	broad.mit.edu	37	3	27761703	27761703	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:27761702_27761702GC>G	uc003cdy.3	-	1	996	c.996_996GC>C	c.(994-996)ggcfs	p.G332fs	EOMES_uc003cdx.3_Frame_Shift_Del_p.G332fs|EOMES_uc010hfn.2_Frame_Shift_Del_p.G332fs|EOMES_uc011axc.1_Frame_Shift_Del_p.G37fs	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	332					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TCACCCATTTGCCCCCCTGGA	0.577												
KLHDC8B	200942	broad.mit.edu	37	3	49211691	49211691	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:49211690_49211690TG>T	uc003cwh.3	+	2	630	c.395_395TG>T	c.(394-396)ctgfs	p.L132fs	KLHDC8B_uc003cwi.1_Frame_Shift_Del_p.L5fs	NM_173546	NP_775817	Q8IXV7	KLD8B_HUMAN	Homo sapiens kelch domain containing 8B (KLHDC8B), mRNA.	132						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTGTATGCTCTGGGGGGAATG	0.612												
CCDC36	339834	broad.mit.edu	37	3	49294312	49294312	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:49294311_49294311CA>C	uc003cwk.2	+	9	1768	c.1381_1381CA>C	c.(1381-1383)caafs	p.Q461fs	CCDC36_uc011bck.1_Frame_Shift_Del_p.Q461fs	NM_178173	NP_835467	Q8IYA8	CCD36_HUMAN	Homo sapiens coiled-coil domain containing 36 (CCDC36), transcript variant 1, mRNA.	461										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AGCCAGCAAGCAAAAACAAAT	0.512												
BSN	8927	broad.mit.edu	37	3	49688112	49688112	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:49688111_49688111AC>A	uc003cxe.4	+	3	1699	c.1585_1585AC>A	c.(1585-1587)accfs	p.T529fs		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	529					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGGAGAGCCGACCCCCCTGCC	0.617												
BSN	8927	broad.mit.edu	37	3	49689123	49689123	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:49689122_49689122AG>A	uc003cxe.4	+	4	2247	c.2133_2133AG>A	c.(2131-2133)gcafs	p.A711fs		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	711					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGGACAGTGCAGGGGTGACAG	0.627												
STAB1	23166	broad.mit.edu	37	3	52556205	52556205	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:52556204_52556204CG>C	uc003dej.3	+	58	6497	c.6423_6423CG>C	c.(6421-6423)cgcfs	p.R2141fs	STAB1_uc003dek.1_Frame_Shift_Del_p.R156fs|STAB1_uc003del.3_Frame_Shift_Del_p.R28fs	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	2141	EGF-like 16.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATGGCCACCGCGGGGGCTGCA	0.667												
ERC2	26059	broad.mit.edu	37	3	56114958	56114958	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:56114957_56114957GT>G	uc021wzo.1	-	5	1669	c.1529_1529AC>C	c.(1528-1530)acafs	p.T510fs	ERC2_uc003dhr.1_Frame_Shift_Del_p.T510fs|ERC2_uc003dht.1_5'UTR	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	510						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TAGCTGTTTTGTTTTTTTATT	0.388												
FAM116A	201627	broad.mit.edu	37	3	57619023	57619023	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:57619022_57619022CA>C	uc003dja.3	-	14	1394	c.1323_1323TG>G	c.(1321-1323)ttgfs	p.L441fs		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	441								p.L441fs*3(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		GTGTCAGTTCCAAAAAATAGC	0.333												
STAG1	10274	broad.mit.edu	37	3	136323166	136323167	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:136323165_136323166T>TC	uc003era.1	-	3	574_575	c.282_283A>GA	c.(280-285)gggaaafs	p.G94fs	STAG1_uc003erb.1_Frame_Shift_Ins_p.G94fs|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003ere.3_Frame_Shift_Ins_p.G94fs	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	94					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ATTGCACTTTTCCCCAGTTTCA	0.411												
ATR	545	broad.mit.edu	37	3	142242921	142242922	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:142242920_142242921T>TC	uc003eux.4	-	21	4188_4189	c.4066_4067A>GA	c.(4066-4068)gaafs	p.E1356fs		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1356					DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCCTAAACATTCCCCACAGAGC	0.416								Other conserved DNA damage response genes				
NMD3	51068	broad.mit.edu	37	3	160942804	160942805	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:160942803_160942804C>CA	uc003feb.1	+	2	249_250	c.130_131C>CA	c.(130-132)caafs	p.Q44fs	NMD3_uc003fec.3_Frame_Shift_Ins_p.Q44fs|NMD3_uc003fed.1_Frame_Shift_Ins_p.Q44fs	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA.	44					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			GGACATCAGCCAAGGTATTCCG	0.391												
TMEM41A	90407	broad.mit.edu	37	3	185212518	185212518	+	Frame_Shift_Del	DEL	A	A	-	rs150885877	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr3:185212517_185212517GA>G	uc003fpj.2	-	3	564	c.468_468TC>C	c.(466-468)ttcfs	p.F156fs	TMEM41A_uc003fpl.2_3'UTR	NM_080652	NP_542383	Q96HV5	TM41A_HUMAN	Homo sapiens transmembrane protein 41A (TMEM41A), mRNA.	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACA	0.443												
PIGG	54872	broad.mit.edu	37	4	524250	524251	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:524249_524250TTA>T	uc003gak.4	+	10	2422_2423	c.2286_2287TTA>T	c.(2284-2289)gtttatfs	p.V762fs	PIGG_uc003gaj.4_Frame_Shift_Del_p.V754fs|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Frame_Shift_Del_p.V629fs|PIGG_uc003gal.4_Frame_Shift_Del_p.V673fs	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	762					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						CTCGTTTTGTTTATGTCTTTGT	0.366												
LARP1B	55132	broad.mit.edu	37	4	129127627	129127628	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:129127626_129127627G>GA	uc003iga.3	+	17	2484_2485	c.2353_2354G>GA	c.(2353-2355)gaafs	p.E785fs	LARP1B_uc003igc.3_Frame_Shift_Ins_p.E204fs|LARP1B_uc010ioa.2_Non-coding_Transcript|LARP1B_uc003ige.3_Intron|LARP1B_uc003igd.3_Non-coding_Transcript|LARP1B_uc003igf.3_Intron	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	785							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTATGGACTGGAAAAAAAATTC	0.292												
CLGN	1047	broad.mit.edu	37	4	141321549	141321549	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr4:141321548_141321548CT>C	uc011chi.2	-	7	875	c.657_657AG>G	c.(655-657)aagfs	p.K219fs	CLGN_uc003iii.3_Frame_Shift_Del_p.K219fs	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	219					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	p.K218E(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTGTAAAGAACTTTTTAAGGT	0.333												
MAP3K1	4214	broad.mit.edu	37	5	56170909	56170910	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:56170908_56170909TGA>T	uc003jqw.4	+	9	2237_2238	c.1736_1737TGA>T	c.(1735-1737)gtgfs	p.V579fs		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	579					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AACTGGAATGTGAGAGAGATGG	0.485												
PCDHAC2	56134	broad.mit.edu	37	5	140250189	140250190	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140250188_140250189CCG>C	uc003lia.2	+	0	2358_2359	c.1500_1501CCG>C	c.(1498-1503)gaccgcfs	p.D500fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Frame_Shift_Del_p.D500fs	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	515	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.K499K(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTGGGCGACCGCGCGCTGTC	0.678												
PCDHGC5	56097	broad.mit.edu	37	5	140725098	140725098	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:140725097_140725097GC>G	uc003ljm.2	+	0	1497	c.1497_1497GC>G	c.(1495-1497)gcgfs	p.A499fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Frame_Shift_Del_p.A499fs	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	501	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAGGGGGCGCCCCTGTCCT	0.542												
TBC1D9B	23061	broad.mit.edu	37	5	179290809	179290810	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr5:179290808_179290809G>GC	uc003mlh.3	-	21	3427_3428	c.3392_3393C>GC	c.(3391-3393)ggcfs	p.G1131fs	TBC1D9B_uc003mli.3_Frame_Shift_Ins_p.G1114fs|TBC1D9B_uc003mlj.3_Frame_Shift_Ins_p.G1113fs|TBC1D9B_uc003mlf.3_Frame_Shift_Ins_p.G205fs|TBC1D9B_uc003mlg.3_Frame_Shift_Ins_p.G290fs|TBC1D9B_uc011dgv.2_Frame_Shift_Ins_p.G290fs	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	1131						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCGCCGCTGCCCCCCTCCAC	0.644												
DDR1	780	broad.mit.edu	37	6	30863251	30863251	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:30863250_30863250GC>G	uc003nrv.3	+	10	1625	c.1583_1583GC>G	c.(1582-1584)ggcfs	p.G528fs	DDR1_uc010jse.3_Intron|DDR1_uc003nrq.3_Intron|DDR1_uc003nrr.3_Frame_Shift_Del_p.G528fs|DDR1_uc003nrs.3_Frame_Shift_Del_p.G528fs|DDR1_uc003nrt.3_Intron|DDR1_uc011dms.2_Intron|DDR1_uc003nru.3_Intron|DDR1_uc003nry.2_Intron|DDR1_uc003nrx.2_Intron|DDR1_uc003nrw.1_Frame_Shift_Del_p.A300fs	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	528	Gly/Pro-rich.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CGAGGCCCGGGCCCCCCCACA	0.687												
HSPA1L	3305	broad.mit.edu	37	6	31779627	31779627	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:31779626_31779626TG>T	uc003nxh.3	-	1	307	c.124_124CA>A	c.(124-126)agcfs	p.S42fs	HSPA1L_uc010jte.3_Frame_Shift_Del_p.S42fs|HSPA1L_uc021yuz.1_Frame_Shift_Del_p.S42fs	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	42					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GCCACGTAGCTGGGGGTGGTG	0.582												
SPATS1	221409	broad.mit.edu	37	6	44336141	44336142	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:44336140_44336141C>CA	uc021yzz.1	+	5	700_701	c.599_600C>CA	c.(598-600)ccafs	p.P200fs	TMEM151B_uc003oxg.3_Non-coding_Transcript|SPATS1_uc010jzb.3_Frame_Shift_Ins_p.P85fs|SPATS1_uc003oxk.3_Frame_Shift_Ins_p.P200fs	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA.	200										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATGGAATCCCAAAGTTAACTC	0.411												
CDC5L	988	broad.mit.edu	37	6	44371656	44371656	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:44371655_44371655GA>G	uc003oxl.3	+	5	959	c.649_649GA>G	c.(649-651)gaafs	p.E217fs		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	217					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATCCCATTTGAAAAAAAGCC	0.398												
COL12A1	1303	broad.mit.edu	37	6	75799878	75799878	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:75799877_75799877GC>G	uc021zbv.1	-	61	8925	c.8890_8890GC>C	c.(8890-8892)cggfs	p.R2964fs	COL12A1_uc021zbw.1_Frame_Shift_Del_p.R1800fs|COL12A1_uc003phs.3_Frame_Shift_Del_p.R2964fs|COL12A1_uc003pht.3_Frame_Shift_Del_p.R1800fs	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2964	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAGCCTGGCCGCCCCCCAGGC	0.617												
LCA5	167691	broad.mit.edu	37	6	80196842	80196843	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:80196841_80196842G>GA	uc003piy.3	-	8	2585_2586	c.1973_1974C>TC	c.(1972-1974)ttcfs	p.F658fs	LCA5_uc003pix.3_Frame_Shift_Ins_p.F658fs	NM_181714	NP_859065	Q86VQ0	LCA5_HUMAN	Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA.	658					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		CTTCACTGAGGAAAAAGCCTTC	0.396												
LAMA2	3908	broad.mit.edu	37	6	129759816	129759816	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:129759815_129759815TA>T	uc021zfb.1	+	41	6098	c.5993_5993TA>T	c.(5992-5994)ttafs	p.L1998fs	LAMA2_uc003qbn.3_Frame_Shift_Del_p.L1998fs|LAMA2_uc003qbo.3_Frame_Shift_Del_p.L1998fs|U6_uc021zfc.1_5'Flank	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1998	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTAAATGGCTTAAAAACCAGG	0.338												
AKAP12	9590	broad.mit.edu	37	6	151672365	151672365	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:151672364_151672364AC>A	uc011eep.2	+	3	3078	c.2838_2838AC>A	c.(2836-2838)gaafs	p.E946fs	AKAP12_uc003qoe.3_Frame_Shift_Del_p.E946fs|AKAP12_uc003qof.3_Frame_Shift_Del_p.E848fs|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Frame_Shift_Del_p.E841fs	NM_005100	NP_005091	Q02952	AKA12_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA.	946				E -> G (in Ref. 4; CAH18338).	G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		CAGAAGAAGAACCCCCCACGG	0.527												
SYNE1	23345	broad.mit.edu	37	6	152708428	152708428	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr6:152708427_152708427AT>A	uc021zhb.1	-	51	8490	c.8267_8267AT>T	c.(8266-8268)atafs	p.I2756fs	SYNE1_uc003qot.4_Frame_Shift_Del_p.I2763fs|SYNE1_uc003qou.4_Frame_Shift_Del_p.I2756fs|SYNE1_uc010kjb.1_Frame_Shift_Del_p.I2739fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2756					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding	p.K2755*(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGATGTTCTATTTTTTGATC	0.453										HNSCC(10;0.0054)		
COL28A1	340267	broad.mit.edu	37	7	7495740	7495740	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:7495739_7495739TC>T	uc003src.1	-	15	1424	c.1307_1307GA>A	c.(1306-1308)gatfs	p.D436fs	COL28A1_uc011jxe.1_Frame_Shift_Del_p.D119fs|COL28A1_uc003srd.3_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	436					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGGTCCTATATCCCCCTGCAC	0.408												
PCLO	27445	broad.mit.edu	37	7	82764463	82764464	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:82764462_82764463G>GT	uc003uhx.2	-	2	2692_2693	c.2403_2404C>AC	c.(2401-2406)aaacccfs	p.K801fs	PCLO_uc003uhv.2_Frame_Shift_Ins_p.K801fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	747	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTCTGTGAGGGTTTGGCAGAGT	0.426												
ZAN	7455	broad.mit.edu	37	7	100349935	100349936	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:100349934_100349935G>GA	uc003uwj.3	+	13	2371_2372	c.2206_2207G>GA	c.(2206-2208)gaafs	p.E736fs	ZAN_uc003uwk.3_Frame_Shift_Ins_p.E736fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	736	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATCTCCCCAGAAAAACCCACC	0.520												
RELN	5649	broad.mit.edu	37	7	103236957	103236958	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:103236956_103236957G>GC	uc022ajr.1	-	24	3645_3646	c.3485_3486C>GC	c.(3484-3486)ggcfs	p.G1162fs	RELN_uc022ajq.1_Frame_Shift_Ins_p.G1162fs|RELN_uc010liz.3_Frame_Shift_Ins_p.G1162fs	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1162					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GCCACTGGATGCCCCCATTGTT	0.510												
SLC13A4	26266	broad.mit.edu	37	7	135368918	135368918	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr7:135368917_135368917AG>A	uc003vtb.3	-	14	2390	c.1701_1701CT>T	c.(1699-1701)cctfs	p.P567fs	SLC13A4_uc003vta.3_Frame_Shift_Del_p.P566fs|C7orf73_uc003vsz.4_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	566						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CGATGGCATTAGGGGGATTGC	0.552												
TNKS	8658	broad.mit.edu	37	8	9565940	9565940	+	Frame_Shift_Del	DEL	A	A	-	rs56411177	byFrequency	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:9565939_9565939TA>T	uc003wss.3	+	8	1520	c.1515_1515TA>T	c.(1513-1515)gttfs	p.V505fs	TNKS_uc011kwv.1_Frame_Shift_Del_p.V505fs|TNKS_uc011kww.2_Frame_Shift_Del_p.V268fs	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	505					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TAGCTAAAGTTAAAAAAACAC	0.328												
EYA1	2138	broad.mit.edu	37	8	72123392	72123392	+	Splice_Site	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:72123391_72123391CT>C	uc003xyu.3	-	17	2338	c.1698_splice	c.e17+1	p.K566_splice	EYA1_uc003xyt.4_Splice_Site_p.K533_splice|EYA1_uc003xyr.4_Splice_Site_p.K531_splice|EYA1_uc010lzf.3_Splice_Site_p.K493_splice|EYA1_uc003xys.4_Splice_Site_p.K566_splice|EYA1_uc011lfe.2_Splice_Site_p.K560_splice|EYA1_uc003xyv.3_Splice_Site_p.K444_splice	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	566					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GAATGCTCACCTTTTTTGCTC	0.358												
TMEM55A	55529	broad.mit.edu	37	8	92020972	92020972	+	Splice_Site	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr8:92020971_92020971AT>A	uc003yes.3	-	5	765	c.539_splice	c.e5+1	p.I180_splice		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	Homo sapiens transmembrane protein 55A (TMEM55A), mRNA.	180						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	p.I180fs*6(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			GGGAACTTACATTTTTTTGCA	0.318												
PIGO	84720	broad.mit.edu	37	9	35091523	35091523	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:35091522_35091522TG>T	uc003zwd.3	-	6	2758	c.2362_2362CA>A	c.(2362-2364)actfs	p.T788fs	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Frame_Shift_Del_p.T351fs	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(2)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCT	0.602												
PRUNE2	158471	broad.mit.edu	37	9	79267433	79267433	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr9:79267432_79267432CG>C	uc010mpk.3	-	10	8648	c.8524_8524CG>G	c.(8524-8526)gatfs	p.D2842fs	PRUNE2_uc011lsk.2_Frame_Shift_Del_p.D91fs|PRUNE2_uc011lsl.2_Frame_Shift_Del_p.D106fs|PRUNE2_uc011lsm.2_Frame_Shift_Del_p.D106fs|PRUNE2_uc004akj.4_Frame_Shift_Del_p.D295fs|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Frame_Shift_Del_p.D295fs	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2842					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGCTTCATCGGGGGTATCA	0.393												
LARP4B	23185	broad.mit.edu	37	10	890939	890939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:890938_890938GT>G	uc001ifs.1	-	4	529	c.488_488AC>C	c.(487-489)acafs	p.T163fs		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	163	HTH La-type RNA-binding.						RNA binding|nucleotide binding	p.T163P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						GAATTCCAATGTTTTTTTAAG	0.353												
CUBN	8029	broad.mit.edu	37	10	16967360	16967360	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:16967359_16967359CA>C	uc001ioo.3	-	42	6579	c.6527_6527TG>G	c.(6526-6528)tgtfs	p.C2176fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	2176	CUB 15.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGACTGCCACAAAAATGACC	0.383												
DNAJC1	64215	broad.mit.edu	37	10	22208818	22208818	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:22208817_22208817CT>C	uc001irc.3	-	4	866	c.579_579AG>G	c.(577-579)aagfs	p.K193fs	DNAJC1_uc021pnz.1_Non-coding_Transcript	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 1 (DNAJC1), mRNA.	193					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TGCTGCCAGTCTTTTTTTTCT	0.303												
KIAA1217	56243	broad.mit.edu	37	10	24832910	24832910	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:24832909_24832909GA>G	uc001iru.4	+	18	5113	c.4710_4710GA>G	c.(4708-4710)aagfs	p.K1570fs	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Frame_Shift_Del_p.K1253fs|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Frame_Shift_Del_p.K406fs	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1570					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAAGCCCCAAGAAAAAGTTTA	0.468												
ZMIZ1	57178	broad.mit.edu	37	10	81067262	81067263	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:81067261_81067262A>AC	uc001kaf.2	+	22	3340_3341	c.2768_2769A>AC	c.(2767-2769)cacfs	p.H923fs	ZMIZ1_uc001kag.2_Frame_Shift_Ins_p.H799fs|ZMIZ1_uc010qlq.1_Frame_Shift_Ins_p.H76fs	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	923	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAGCTCTCCCACCCCCCGGACA	0.609												
WAPAL	23063	broad.mit.edu	37	10	88259918	88259918	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:88259917_88259917TA>T	uc001kdn.3	-	3	1221	c.1212_1212TA>A	c.(1210-1212)ttafs	p.L404fs	WAPAL_uc001kdo.3_Frame_Shift_Del_p.L361fs|WAPAL_uc009xsw.3_Frame_Shift_Del_p.L361fs	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	361	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						AAGATGGATGTAAAACAGTGT	0.448												
PI4K2A	55361	broad.mit.edu	37	10	99344577	99344577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr10:99344576_99344576AC>A	uc010qoy.1	+	0	475	c.116_116AC>A	c.(115-117)tacfs	p.Y39fs	PI4K2A_uc001knx.2_Frame_Shift_Del_p.Y39fs|PI4K2A_uc001kny.3_Frame_Shift_Del_p.Y39fs|PI4K2A_uc001knz.3_Frame_Shift_Del_p.Y39fs	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA.	0	Poly-Ala.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GCGGGTATCTACCCCCCTGTG	0.592												
PTPN5	84867	broad.mit.edu	37	11	18765665	18765665	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:18765664_18765664AG>A	uc001mpd.3	-	3	611	c.180_180CT>T	c.(178-180)cctfs	p.P60fs	PTPN5_uc001mpb.3_Frame_Shift_Del_p.P60fs|PTPN5_uc001mpc.3_Frame_Shift_Del_p.P60fs|PTPN5_uc010rdj.2_Frame_Shift_Del_p.P36fs|PTPN5_uc001mpf.3_Frame_Shift_Del_p.P36fs|PTPN5_uc001mpe.3_Frame_Shift_Del_p.P60fs|PTPN5_uc010rdk.2_Frame_Shift_Del_p.P5fs	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	60						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						GCGAGGGAGGAGGGGGTGGCG	0.647												
SVIP	258010	broad.mit.edu	37	11	22848803	22848803	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:22848802_22848802AT>A	uc001mqp.4	-	2	258	c.170_170AT>T	c.(169-171)atafs	p.I57fs		NM_148893	NP_683691	Q8NHG7	SVIP_HUMAN	Homo sapiens small VCP/p97-interacting protein (SVIP), mRNA.	57						Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						TTGTTTTTCTATTTTTTCCTT	0.338												
GANAB	23193	broad.mit.edu	37	11	62407174	62407174	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:62407173_62407173TA>T	uc001nua.3	-	1	102	c.69_69TA>A	c.(67-69)ttafs	p.L23fs	GANAB_uc001nub.3_Frame_Shift_Del_p.L23fs|GANAB_uc001nuc.3_5'UTR|GANAB_uc010rma.2_Intron|GANAB_uc010rmb.2_Intron	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	23					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GGCAGACCCCTAAAAAAGCCA	0.478												
MYO7A	4647	broad.mit.edu	37	11	76873961	76873962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:76873960_76873961T>TC	uc001oyb.2	+	13	1888_1889	c.1616_1617T>TC	c.(1615-1617)atcfs	p.I539fs	MYO7A_uc010rsl.2_Frame_Shift_Ins_p.I539fs|MYO7A_uc010rsm.1_Frame_Shift_Ins_p.I528fs|MYO7A_uc001oyc.2_Frame_Shift_Ins_p.I539fs	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	539	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564												
SLC36A4	120103	broad.mit.edu	37	11	92918940	92918940	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:92918939_92918939CA>C	uc001pdn.3	-	1	194	c.97_97TG>G	c.(97-99)gatfs	p.D33fs	SLC36A4_uc001pdm.3_5'UTR	NM_152313	NP_689526	Q6YBV0	S36A4_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 4 (SLC36A4), mRNA.	33					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GATGTCCCATCAAAATTCTGC	0.358												
CASP4	837	broad.mit.edu	37	11	104825505	104825505	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:104825504_104825504TA>T	uc001pid.1	-	1	305	c.232_232TA>A	c.(232-234)aacfs	p.N78fs	CASP4_uc001pib.1_Frame_Shift_Del_p.N22fs|CASP4_uc009yxg.1_5'UTR|CASP4_uc010rux.1_Frame_Shift_Del_p.N78fs|CASP4_uc010ruy.1_Frame_Shift_Del_p.N78fs	NM_001225	NP_150649	P49662	CASP4_HUMAN	Homo sapiens caspase 4, apoptosis-related cysteine peptidase (CASP4), transcript variant alpha, mRNA.	78	CARD.				apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		TGGTCTATGTTAAAAAAGGTT	0.373												
SIK3	23387	broad.mit.edu	37	11	116733011	116733012	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:116733010_116733011G>GC	uc001ppy.3	-	15	1854_1855	c.1818_1819C>GC	c.(1816-1821)gggcagfs	p.G606fs	SIK3_uc001ppz.3_Frame_Shift_Ins_p.G505fs|SIK3_uc001pqa.3_Frame_Shift_Ins_p.G606fs|SIK3_uc001ppw.3_Frame_Shift_Ins_p.G23fs|SIK3_uc001ppx.3_Frame_Shift_Ins_p.G81fs|SIK3_uc001pqb.3_5'Flank	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	606	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCATCAATCTGCCCCCCGTACA	0.500												
DSCAML1	57453	broad.mit.edu	37	11	117375668	117375668	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:117375667_117375667TG>T	uc001prh.1	-	9	2336	c.2334_2334CA>A	c.(2332-2334)ccafs	p.P778fs		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	718	Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGACCTTGGGTGGGGGGTAGC	0.592												
CCDC153	283152	broad.mit.edu	37	11	119061043	119061043	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr11:119061042_119061042AG>A	uc010rze.2	-	6	814	c.600_600CT>T	c.(598-600)cctfs	p.P200fs		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	200										lung(3)|stomach(1)	4						TCAAAGATCCAGGGGGGGTGA	0.572												
GUCY2C	2984	broad.mit.edu	37	12	14794043	14794045	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:14794042_14794044TAGA>T	uc001rcd.3	-	17	2177_2179	c.2040_2042TCTA>A	c.(2038-2043)ttctac>ttAc	p.680_681FY>L		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	680	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GCTCAAAGTGTAGAAGGTTTCTT	0.512												
PRPF40B	25766	broad.mit.edu	37	12	50025258	50025258	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:50025257_50025257TC>T	uc001rur.1	+	1	155	c.92_92TC>T	c.(91-93)atcfs	p.I31fs	PRPF40B_uc001rup.1_Frame_Shift_Del_p.I53fs|PRPF40B_uc001ruq.1_Frame_Shift_Del_p.I25fs|PRPF40B_uc001rus.1_5'Flank	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	31	Pro-rich.				RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CCACCAGCTATCCCCCCCATG	0.607												
NAA25	80018	broad.mit.edu	37	12	112485541	112485543	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr12:112485540_112485542ATCT>A	uc001ttm.3	-	16	1991_1993	c.1933_1935AGAT>T	c.(1933-1935)gat>T	p.D646del	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_In_Frame_Del_p.D618del|NAA25_uc009zwa.2_In_Frame_Del_p.D646del	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	646						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATGGAATGTCATCTTCTTCTGGC	0.355												
PCDH8	5100	broad.mit.edu	37	13	53420216	53420216	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr13:53420215_53420215GC>G	uc001vhi.3	-	0	2561	c.2357_2357GC>C	c.(2356-2358)gccfs	p.A786fs	PCDH8_uc001vhj.3_Intron	NM_002590	NP_002581	O95206	PCDH8_HUMAN	Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA.	786					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		TTCCCGGAGGGCCCCCCCTTT	0.751												
SYNE2	23224	broad.mit.edu	37	14	64681100	64681100	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:64681099_64681099TC>T	uc001xgl.3	+	105	19474	c.19244_19244TC>T	c.(19243-19245)atcfs	p.I6415fs	SYNE2_uc001xgm.3_Frame_Shift_Del_p.I6415fs|SYNE2_uc010apy.3_Frame_Shift_Del_p.I2800fs|SYNE2_uc001xgn.3_Frame_Shift_Del_p.I1377fs|SYNE2_uc021rui.1_Frame_Shift_Del_p.I1402fs|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Frame_Shift_Del_p.I385fs|SYNE2_uc001xgq.3_Frame_Shift_Del_p.I780fs|SYNE2_uc001xgr.3_Frame_Shift_Del_p.I198fs|SYNE2_uc010tsi.2_Frame_Shift_Del_p.I49fs|SYNE2_uc001xgs.3_Frame_Shift_Del_p.I49fs|SYNE2_uc001xgt.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6415					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTGGACTCCATCCCCCTGGAG	0.642												
ZFP36L1	677	broad.mit.edu	37	14	69256455	69256455	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:69256454_69256454AC>A	uc021rve.1	-	2	1114	c.1020_1020GT>T	c.(1018-1020)ggtfs	p.G340fs	ZFP36L1_uc001xki.2_Frame_Shift_Del_p.G271fs|ZFP36L1_uc001xkh.2_Frame_Shift_Del_p.G271fs	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	271					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCGGGGAGCCACCCCCGGGCA	0.637											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
BTBD7	55727	broad.mit.edu	37	14	93709015	93709015	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr14:93709014_93709014GT>G	uc001ybo.3	-	10	3330	c.3004_3004AC>C	c.(3004-3006)cagfs	p.Q1002fs	BTBD7_uc010aur.3_Frame_Shift_Del_p.Q527fs|BTBD7_uc010two.2_Frame_Shift_Del_p.Q822fs|BTBD7_uc001ybp.3_Frame_Shift_Del_p.Q651fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	1002										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTCTTCCTGTTTTTTAGGA	0.488												
B2M	567	broad.mit.edu	37	15	45003786	45003789	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:45003785_45003788CTCTT>C	uc001zuc.3	+	0	101_104	c.41_44CTCTT>C	c.(40-45)tctcttfs	p.S14fs	B2M_uc010uek.1_Frame_Shift_Del_p.S14fs|B2M_uc010bdx.1_Frame_Shift_Del_p.S14fs	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	14					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|MHC class I protein complex|early endosome membrane	protein binding	p.L15fs*41(6)|p.A11fs*42(1)|p.L13F(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GCGCTACTCTCTCTTTCTGGCCTG	0.618												
MEX3B	84206	broad.mit.edu	37	15	82336174	82336174	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr15:82336173_82336173TC>T	uc002bgq.1	-	1	1353	c.1038_1038GA>A	c.(1036-1038)ggafs	p.G346fs		NM_032246	NP_115622	Q6ZN04	MEX3B_HUMAN	Homo sapiens mex-3 homolog B (C. elegans) (MEX3B), mRNA.	346					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	RNA binding|calcium ion binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CTGAGGCTTCTCCCCCCGCTG	0.647												
USP7	7874	broad.mit.edu	37	16	8993506	8993508	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:8993505_8993507GATC>G	uc002czl.2	-	21	2616_2618	c.2417_2419GATC>C	c.(2416-2421)gatcct>gCct	p.806_807DP>A	USP7_uc010uyk.1_In_Frame_Del_p.707_708DP>A|USP7_uc010uyj.1_In_Frame_Del_p.707_708DP>A|USP7_uc002czk.2_In_Frame_Del_p.790_791DP>A	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	806					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.D806Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACAAATCCAGGATCATTAGGGAT	0.369												
RSL1D1	26156	broad.mit.edu	37	16	11931680	11931680	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:11931679_11931679AT>A	uc002dbp.1	-	8	1511	c.1438_1438AT>T	c.(1438-1440)tggfs	p.W480fs	RSL1D1_uc010buv.1_Frame_Shift_Del_p.W479fs|RSL1D1_uc010uyw.1_Frame_Shift_Del_p.W260fs	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	480					regulation of protein localization|translation	large ribosomal subunit|nucleolus	RNA binding|protein binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTTTGGGCCATTTTTTGGGG	0.453												
ABCC1	4363	broad.mit.edu	37	16	16101774	16101774	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:16101773_16101773TC>T	uc010bvi.3	+	1	324	c.149_149TC>T	c.(148-150)ttcfs	p.F50fs	ABCC1_uc010bvj.3_Frame_Shift_Del_p.F50fs|ABCC1_uc010bvk.3_Frame_Shift_Del_p.F50fs|ABCC1_uc010bvl.3_Frame_Shift_Del_p.F50fs|ABCC1_uc010bvm.3_Frame_Shift_Del_p.F50fs|ABCC1_uc002del.4_5'Flank	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	50					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TGGGCCTGTTTCCCCTTCTAC	0.507												
ACSM3	6296	broad.mit.edu	37	16	20796371	20796371	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:20796370_20796370GA>G	uc010vba.2	+	7	1246	c.1171_1171GA>G	c.(1171-1173)gaafs	p.E391fs	ACSM3_uc002dhq.3_Frame_Shift_Del_p.E362fs|ACSM3_uc002dhr.3_Frame_Shift_Del_p.E362fs|ERI2_uc002dhs.3_Intron	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	362					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGACGTGACTGAAAAATGGAG	0.423												
PLK1	5347	broad.mit.edu	37	16	23698897	23698898	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:23698896_23698897GCA>G	uc002dlz.1	+	5	1196_1197	c.1143_1144GCA>G	c.(1141-1146)ctgcacfs	p.L381fs		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	381					G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TGCAGCAGCTGCACAGTGTCAA	0.624												
ATXN2L	11273	broad.mit.edu	37	16	28847350	28847350	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:28847349_28847349TG>T	uc002dqy.3	+	21	3158	c.2991_2991TG>T	c.(2989-2991)catfs	p.H997fs	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002dra.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drb.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drc.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc010vdb.2_Frame_Shift_Del_p.H1003fs|ATXN2L_uc002dre.3_Frame_Shift_Del_p.H997fs|ATXN2L_uc002drf.3_Frame_Shift_Del_p.H406fs|ATXN2L_uc002drg.3_Frame_Shift_Del_p.H280fs	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	997						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCCAGAGTCATGGGGGGCCCC	0.687												
DPEP2	64174	broad.mit.edu	37	16	68026099	68026100	+	Splice_Site	INS	-	-	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:68026098_68026099T>TG	uc010cey.3	-	3	555	c.391_splice	c.e3-1	p.F131_splice	DPEP2_uc002eve.3_Splice_Site_p.F131_splice|DPEP2_uc002evf.3_Splice_Site|DPEP2_uc002evg.3_Intron	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	131					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		TGACCAGAACTGGGGGGAAGGC	0.634												
WDR59	79726	broad.mit.edu	37	16	74976691	74976691	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr16:74976690_74976690AT>A	uc002fdh.1	-	6	582	c.480_480AT>T	c.(478-480)aatfs	p.N160fs	WDR59_uc002fdi.3_Frame_Shift_Del_p.N160fs|WDR59_uc021tli.1_Frame_Shift_Del_p.N139fs	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	160										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GGCAGTTAGCATTTTTTTTAT	0.498												
WRAP53	55135	broad.mit.edu	37	17	7606715	7606715	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:7606714_7606714TG>T	uc010vuh.2	+	10	1712	c.1557_1557TG>T	c.(1555-1557)tgtfs	p.C519fs	WRAP53_uc010vui.2_Frame_Shift_Del_p.C519fs|WRAP53_uc002gip.3_Frame_Shift_Del_p.C519fs|WRAP53_uc002gir.3_Frame_Shift_Del_p.C519fs|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Frame_Shift_Del_p.C486fs|EFNB3_uc002gis.3_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	519					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TCTGGTGGTGTGGGGGGGCGC	0.602												
SEZ6	124925	broad.mit.edu	37	17	27296914	27296914	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:27296913_27296913GC>G	uc002hdp.2	-	3	1110	c.916_916GC>C	c.(916-918)cctfs	p.P306fs	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Frame_Shift_Del_p.P306fs|SEZ6_uc002hdq.1_Frame_Shift_Del_p.P181fs|SEZ6_uc010crz.1_Frame_Shift_Del_p.P306fs	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	306						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			AGTGGGTCAGGCCCCCCCAGG	0.617												
SLFN12	55106	broad.mit.edu	37	17	33749957	33749957	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:33749956_33749956AT>A	uc002hji.4	-	1	469	c.92_92AT>T	c.(91-93)atgfs	p.M31fs	SLFN12_uc002hjj.4_Frame_Shift_Del_p.M31fs|SLFN12_uc010cts.3_Frame_Shift_Del_p.M31fs	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	31							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAATCCTTCATTTTTTTCCT	0.423												
EZH1	2145	broad.mit.edu	37	17	40874914	40874914	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:40874913_40874913CA>C	uc010wgu.2	-	4	441	c.405_405TG>G	c.(403-405)ttgfs	p.L135fs	EZH1_uc002iaz.3_Frame_Shift_Del_p.L129fs|EZH1_uc002iba.3_Frame_Shift_Del_p.L120fs|EZH1_uc010wgt.2_Frame_Shift_Del_p.L59fs|EZH1_uc010wgv.2_Frame_Shift_Del_p.L89fs|EZH1_uc010wgw.2_Intron|EZH1_uc010cyp.2_Intron|EZH1_uc010cyq.2_Frame_Shift_Del_p.L46fs|EZH1_uc010cys.2_Frame_Shift_Del_p.L80fs|EZH1_uc010cyo.1_5'UTR|EZH1_uc010cyr.1_5'Flank	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	129					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		GAATATTGCACAAAACCGTCT	0.398												
SP2	6668	broad.mit.edu	37	17	45993940	45993940	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:45993939_45993939AC>A	uc002imk.3	+	2	639	c.502_502AC>A	c.(502-504)accfs	p.T168fs	SP2_uc002iml.3_Frame_Shift_Del_p.T161fs|BC038442_uc002imm.3_Intron	NM_003110	NP_003101	Q02086	SP2_HUMAN	Homo sapiens Sp2 transcription factor (SP2), mRNA.	168					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						AGCCATCATCACCCCCTCACC	0.582												
XYLT2	64132	broad.mit.edu	37	17	48433967	48433967	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:48433966_48433966AC>A	uc002iqo.3	+	7	1686	c.1577_1577AC>A	c.(1576-1578)tacfs	p.Y526fs	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	526					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G529fs*17(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TATGGCAGCTACCCCCCCGGC	0.602												
ARHGDIA	396	broad.mit.edu	37	17	79826767	79826769	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr17:79826766_79826768CCTT>C	uc021uff.1	-	5	905_907	c.599_601AAGG>G	c.(598-603)aaggac>aGac	p.200_201KD>R	AK293147_uc021ufe.1_5'UTR|ARHGDIA_uc002kbq.3_In_Frame_Del_p.200_201KD>R|ARHGDIA_uc021ufg.1_In_Frame_Del_p.156_157KD>R|ARHGDIA_uc010dig.2_Non-coding_Transcript	NM_001185077	NP_004300	P52565	GDIR1_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 1, mRNA.	200					Rho protein signal transduction|anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction	cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity|identical protein binding			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCCTTCCAGTCCTTCTTGATGGT	0.640												
MBD2	8932	broad.mit.edu	37	18	51731402	51731405	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:51731401_51731404CTGTT>C	uc002lfg.2	-	1	895_898	c.666_669AACAG>G	c.(664-669)aaacagfs	p.K222fs	MBD2_uc002lfh.2_Frame_Shift_Del_p.K222fs	NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	Homo sapiens methyl-CpG binding domain protein 2 (MBD2), transcript variant 1, mRNA.	222					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	TTCGCAGTCTCTGTTTGTTCTTCT	0.387												
WDR7	23335	broad.mit.edu	37	18	54358513	54358513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr18:54358512_54358512CG>C	uc002lgk.1	+	7	994	c.783_783CG>C	c.(781-783)accfs	p.T261fs	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Frame_Shift_Del_p.T261fs	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	261								p.T261P(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGACATGGACCGGGGGGGACT	0.418												
ZNF358	140467	broad.mit.edu	37	19	7584517	7584517	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:7584516_7584516AC>A	uc002mgn.2	+	1	558	c.388_388AC>A	c.(388-390)accfs	p.T130fs	ZNF358_uc021unu.1_Frame_Shift_Del_p.T130fs|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	130					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CCTCACTGCCACCCCCCAGGT	0.697												
NOTCH3	4854	broad.mit.edu	37	19	15290896	15290896	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:15290895_15290895GC>G	uc002nan.3	-	19	3391	c.3315_3315GC>C	c.(3313-3315)ggcfs	p.G1105fs	NOTCH3_uc002nao.1_Frame_Shift_Del_p.G1053fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1105	EGF-like 28.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G1104W(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACACATGTAGCCCCCCATAT	0.642												
DMKN	93099	broad.mit.edu	37	19	35989795	35989795	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:35989794_35989794TC>T	uc002nzm.4	-	13	1548	c.1365_1365GA>A	c.(1363-1365)ggafs	p.G455fs	DMKN_uc002nzi.4_Frame_Shift_Del_p.G69fs|DMKN_uc002nzj.3_Frame_Shift_Del_p.G143fs|DMKN_uc002nzl.4_Frame_Shift_Del_p.G168fs|DMKN_uc002nzk.4_Frame_Shift_Del_p.G116fs|DMKN_uc002nzo.4_Frame_Shift_Del_p.G444fs|DMKN_uc002nzn.4_Frame_Shift_Del_p.G428fs|DMKN_uc002nzu.2_Frame_Shift_Del_p.G116fs|DMKN_uc002nzv.2_Frame_Shift_Del_p.G102fs|DMKN_uc002nzw.2_Frame_Shift_Del_p.G125fs|DMKN_uc002nzq.2_Frame_Shift_Del_p.G131fs|DMKN_uc002nzp.2_Frame_Shift_Del_p.G149fs|DMKN_uc002nzr.2_Frame_Shift_Del_p.G111fs|DMKN_uc002nzs.2_Frame_Shift_Del_p.G102fs|DMKN_uc002nzt.2_Frame_Shift_Del_p.G102fs	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	455						extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAGGTGAGACTCCCCCCTGCA	0.592												
MLL2	8085	broad.mit.edu	37	19	36210764	36210765	+	Frame_Shift_Ins	INS	-	-	C	rs60207923	by1000genomes	TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:36210763_36210764A>AC	uc021usv.1	+	2	514_515	c.514_515A>AC	c.(514-516)accfs	p.T172fs	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	629					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TGTGGCTCCTACCCCCCCAAAG	0.634			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)		
ZNF701	55762	broad.mit.edu	37	19	53086002	53086002	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:53086001_53086001TA>T	uc010ydn.2	+	4	950	c.887_887TA>T	c.(886-888)ttafs	p.L296fs	ZNF701_uc002pzs.2_Frame_Shift_Del_p.L230fs|ZNF701_uc021uyw.1_Frame_Shift_Del_p.L296fs	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AGCTCACTCTTAAAAAAACAT	0.388												
OSCAR	126014	broad.mit.edu	37	19	54600445	54600445	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr19:54600444_54600444TG>T	uc002qdd.3	-	3	270	c.153_153CA>A	c.(151-153)ccafs	p.P51fs	OSCAR_uc002qcy.3_Frame_Shift_Del_p.P30fs|OSCAR_uc002qcz.3_Frame_Shift_Del_p.P26fs|OSCAR_uc002qda.3_Frame_Shift_Del_p.P30fs|OSCAR_uc002qdb.3_Frame_Shift_Del_p.P15fs|OSCAR_uc010erc.3_5'UTR|OSCAR_uc002qdc.3_Frame_Shift_Del_p.P40fs|OSCAR_uc021vbh.1_5'Flank	NM_206818	NP_996554	Q8IYS5	OSCAR_HUMAN	Homo sapiens osteoclast associated, immunoglobulin-like receptor (OSCAR), transcript variant 1, mRNA.	26	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GGTATGAAGCTGGGGGGACTG	0.602												
EMILIN3	90187	broad.mit.edu	37	20	39990829	39990829	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:39990828_39990828AC>A	uc002xjy.1	-	3	1605	c.1381_1381GT>T	c.(1381-1383)tggfs	p.W461fs		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	461						proteinaceous extracellular matrix		p.W461fs*31(2)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCCACTCCCCACCCCCCCATG	0.642												
COL20A1	57642	broad.mit.edu	37	20	61950424	61950424	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr20:61950423_61950423GC>G	uc011aau.2	+	21	2777	c.2677_2677GC>G	c.(2677-2679)gccfs	p.A893fs	COL20A1_uc011aav.2_Frame_Shift_Del_p.A714fs	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	893	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CGTCTACCCAGCCCCCCTACC	0.647												
SLC5A3	6526	broad.mit.edu	37	21	35467872	35467872	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:35467871_35467871AT>A	uc021wir.1	+	0	374	c.374_374AT>A	c.(373-375)tatfs	p.Y125fs	SLC5A3_uc002yto.3_Frame_Shift_Del_p.Y125fs|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	125						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ATTCAGGTCTATTTTGCAGCC	0.453												
ZNF295	49854	broad.mit.edu	37	21	43412134	43412134	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr21:43412133_43412133AT>A	uc021wjo.1	-	0	2072	c.2072_2072AT>T	c.(2071-2073)atgfs	p.M691fs	ZNF295_uc002yzz.4_Intron|ZNF295_uc002zab.4_Frame_Shift_Del_p.M691fs|ZNF295_uc002yzy.4_Frame_Shift_Del_p.M691fs|ZNF295_uc002zaa.4_Frame_Shift_Del_p.M691fs	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	691					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						TCCTGGATGCATTTTTATATG	0.418												
SREBF2	6721	broad.mit.edu	37	22	42289201	42289201	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:42289200_42289200AC>A	uc003bbi.3	+	11	2457	c.2288_2288AC>A	c.(2287-2289)cacfs	p.H763fs	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	763					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TGGCTCTGCCACCCCCTGGGC	0.597												
MOV10L1	54456	broad.mit.edu	37	22	50553620	50553621	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chr22:50553619_50553620T>TG	uc003bjj.3	+	7	1286_1287	c.1203_1204T>TG	c.(1201-1206)cctgggfs	p.P401fs	MOV10L1_uc003bjk.4_Frame_Shift_Ins_p.P401fs|MOV10L1_uc011arp.2_Frame_Shift_Ins_p.P381fs|MOV10L1_uc011arq.1_Frame_Shift_Ins_p.P162fs|MOV10L1_uc010hao.1_Non-coding_Transcript	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	401					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		AGCCTGAGCCTGGGGGGCTTGT	0.460												
DMD	1756	broad.mit.edu	37	X	31196799	31196800	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:31196798_31196799T>TC	uc004dda.1	-	69	10454_10455	c.10210_10211A>GA	c.(10210-10212)gacfs	p.D3404fs	DMD_uc004dcq.1_Frame_Shift_Ins_p.D675fs|DMD_uc004dcr.1_Frame_Shift_Ins_p.D944fs|DMD_uc004dcs.1_Frame_Shift_Ins_p.D944fs|DMD_uc004dct.1_Frame_Shift_Ins_p.D944fs|DMD_uc004dcu.1_Frame_Shift_Ins_p.D944fs|DMD_uc004dcv.1_Frame_Shift_Ins_p.D944fs|DMD_uc004dcw.2_Frame_Shift_Ins_p.D2060fs|DMD_uc004dcx.2_Frame_Shift_Ins_p.D2063fs|DMD_uc004dcz.2_Frame_Shift_Ins_p.D3281fs|DMD_uc004dcy.1_Frame_Shift_Ins_p.D3400fs|DMD_uc004ddb.1_Frame_Shift_Ins_p.D3396fs|DMD_uc004dcp.1_Frame_Shift_Ins_p.D336fs|DMD_uc011mkb.1_Frame_Shift_Ins_p.D336fs|DMD_uc004dcm.1_Frame_Shift_Ins_p.D336fs|DMD_uc004dcn.1_Frame_Shift_Ins_p.D336fs|DMD_uc004dco.1_Frame_Shift_Ins_p.D336fs|DMD_uc010ngm.3_Frame_Shift_Ins_p.D336fs	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3404	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCCATGTTGTCCCCCTCTAAG	0.446												
IRS4	8471	broad.mit.edu	37	X	107977803	107977804	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CD-A4MI-01A-21D-A25D-08	TCGA-CD-A4MI-10A-01D-A25E-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ae40034-9f70-4e54-9cb6-9cc245d004fa	09571074-d3af-4948-af81-67e8e6a02f50	g.chrX:107977802_107977803G>GC	uc004eoc.2	-	0	1805_1806	c.1772_1773C>GC	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545												
