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	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	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	validation_status	validation_method	validation_tumor_sample	validation_alt_allele
MXRA8	54587	broad.mit.edu	37	1	1290110	1290110	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1290110delG	uc001aew.2	-	5	932	c.901delC	c.(901-903)CGGfs	p.R301fs	MXRA8_uc001aex.3_Frame_Shift_Del_p.R301fs|MXRA8_uc001aey.3_Frame_Shift_Del_p.R301fs|MXRA8_uc010nyl.1_Frame_Shift_Del_p.R301fs|MXRA8_uc001aez.2_Frame_Shift_Del_p.R200fs|MXRA8_uc001afa.2_Frame_Shift_Del_p.R292fs	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8 precursor	301	Extracellular (Potential).					integral to membrane					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;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
CCNL2	81669	broad.mit.edu	37	1	1333832	1333832	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1333832delA	uc001afi.2	-						CCNL2_uc001afg.1_5'Flank|CCNL2_uc001afh.2_Intron|CCNL2_uc001afj.2_Intron|CCNL2_uc001afk.2_Intron|LOC148413_uc001afm.2_5'Flank|LOC148413_uc001afn.1_5'Flank|LOC148413_uc009vkc.1_5'Flank|LOC148413_uc009vkd.2_5'Flank	NM_030937	NP_112199			cyclin L2 isoform A						regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			ovary(2)|central_nervous_system(1)	3	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;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	5050112	5050113	+	IGR	DEL	TC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:5050112_5050113delTC								AJAP1 (206262 upstream) : NPHP4 (872757 downstream)																																			---	---	---	---
RPL22	6146	broad.mit.edu	37	1	6257785	6257785	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6257785delT	uc001amd.2	-	2	90	c.44delA	c.(43-45)AAGfs	p.K15fs	RPL22_uc001ame.2_Frame_Shift_Del_p.K15fs	NM_000983	NP_000974	P35268	RL22_HUMAN	ribosomal protein L22 proprotein	15					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome				0	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)				T	RUNX1	AML|CML								---	---	---	---
HES3	390992	broad.mit.edu	37	1	6304351	6304351	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6304351delG	uc009vly.1	+							NM_001024598	NP_001019769			hairy and enhancer of split 3						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)														---	---	---	---
ESPN	83715	broad.mit.edu	37	1	6505882	6505882	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6505882delC	uc001amy.2	+	7	1519	c.1351delC	c.(1351-1353)CCCfs	p.P451fs	ESPN_uc001amz.2_5'Flank	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	espin	451	Pro-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding				0	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	6894337	6894337	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6894337delT	uc001aoi.2	+						CAMTA1_uc001aoh.2_Intron	NM_015215	NP_056030			calmodulin-binding transcription activator 1						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)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	13123163	13123163	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:13123163delA								PRAMEF5 (5412 upstream) : LOC440563 (59798 downstream)																																			---	---	---	---
CROCC	9696	broad.mit.edu	37	1	17299014	17299014	+	3'UTR	DEL	A	-	-	rs6661019	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17299014delA	uc001azt.2	+	37					CROCC_uc001azu.2_3'UTR|CROCC_uc001azv.2_3'UTR	NM_014675	NP_055490			ciliary rootlet coiled-coil						cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)														---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19474752	19474752	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19474752delA	uc001bbi.2	-						UBR4_uc001bbk.1_Intron	NM_020765	NP_065816			retinoblastoma-associated factor 600						interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---
ALPL	249	broad.mit.edu	37	1	21902749	21902764	+	Intron	DEL	TGGATGGATGGATGGG	-	-	rs67585448		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21902749_21902764delTGGATGGATGGATGGG	uc001bet.2	+						ALPL_uc010odn.1_Intron|ALPL_uc010odo.1_Intron|ALPL_uc010odp.1_Intron|ALPL_uc001beu.3_Intron	NM_000478	NP_000469			tissue-nonspecific alkaline phosphatase						response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)													---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23107812	23107815	+	Intron	DEL	AAAA	-	-	rs143757031		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23107812_23107815delAAAA	uc009vqj.1	+						EPHB2_uc001bge.2_Intron|EPHB2_uc001bgf.2_Intron|EPHB2_uc010odu.1_Intron	NM_017449	NP_059145			ephrin receptor EphB2 isoform 1 precursor						axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)										Hereditary_Prostate_Cancer				---	---	---	---
EPHB2	2048	broad.mit.edu	37	1	23240246	23240246	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23240246delA	uc009vqj.1	+	17	3196	c.3051delA	c.(3049-3051)GGAfs	p.G1017fs	EPHB2_uc001bge.2_3'UTR|EPHB2_uc001bgf.2_3'UTR|EPHB2_uc010odu.1_3'UTR	NM_017449	NP_059145	P29323	EPHB2_HUMAN	ephrin receptor EphB2 isoform 1 precursor	1017	Cytoplasmic (Potential).				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			ovary(3)|lung(1)|pancreas(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)										Hereditary_Prostate_Cancer				---	---	---	---
HNRNPR	10236	broad.mit.edu	37	1	23664851	23664851	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23664851delC	uc001bgr.3	-						HNRNPR_uc001bgp.3_Intron|HNRNPR_uc009vqk.2_Intron|HNRNPR_uc001bgs.3_Intron|HNRNPR_uc010odw.1_Intron|HNRNPR_uc010odx.1_Intron|HNRNPR_uc009vql.2_Intron	NM_005826	NP_005817			heterogeneous nuclear ribonucleoprotein R							catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			upper_aerodigestive_tract(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)														---	---	---	---
TMEM57	55219	broad.mit.edu	37	1	25757683	25757683	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:25757683delC	uc001bkk.2	+						RHCE_uc001bkj.2_5'Flank|TMEM57_uc009vru.2_Intron|TMEM57_uc009vrv.2_Intron|TMEM57_uc009vrt.2_Intron	NM_018202	NP_060672			transmembrane protein 57							axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part					0		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CNKSR1	10256	broad.mit.edu	37	1	26515452	26515452	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26515452delG	uc001bln.3	+						CNKSR1_uc001blm.3_Intron|CNKSR1_uc009vsd.2_Intron|CNKSR1_uc009vse.2_Intron|CNKSR1_uc001blo.2_Intron|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.1_5'Flank|CATSPER4_uc009vsf.2_5'Flank	NM_006314	NP_006305			connector enhancer of kinase suppressor of Ras						Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			lung(1)|kidney(1)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
FAM76A	199870	broad.mit.edu	37	1	28086990	28086990	+	Intron	DEL	T	-	-	rs111588196		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:28086990delT	uc001boq.2	+						FAM76A_uc001bor.2_Intron|FAM76A_uc001bos.2_Intron|FAM76A_uc001bot.2_Intron|FAM76A_uc010ofm.1_Intron	NM_152660	NP_689873			hypothetical protein LOC199870 isoform 3												0		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	29041386	29041386	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29041386delA								GMEB1 (1 upstream) : YTHDF2 (21750 downstream)																																			---	---	---	---
BSDC1	55108	broad.mit.edu	37	1	32834302	32834302	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32834302delT	uc001bvh.3	-						BSDC1_uc010ohg.1_Intron|BSDC1_uc010ohh.1_Intron|BSDC1_uc010ohi.1_Intron|BSDC1_uc001bvg.3_Intron|BSDC1_uc001bvj.2_Intron|BSDC1_uc001bvi.2_Intron	NM_018045	NP_060515			BSD domain containing 1 isoform b								protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)																---	---	---	---
RNF19B	127544	broad.mit.edu	37	1	33411238	33411238	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33411238delA	uc010oho.1	-						RNF19B_uc001bwm.3_Intron|RNF19B_uc010ohp.1_Intron	NM_153341	NP_699172			ring finger protein 19B isoform a							integral to membrane	ligase activity|protein binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)																---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34090613	34090613	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34090613delC	uc001bxn.1	-						CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxo.1_Intron	NM_052896	NP_443128			CUB and Sushi multiple domains 2							integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---
GJB4	127534	broad.mit.edu	37	1	35227687	35227688	+	3'UTR	INS	-	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35227687_35227688insC	uc001bxv.1	+	2					GJB4_uc001bxw.3_3'UTR	NM_153212	NP_694944			gap junction protein, beta 4						cell communication	connexon complex|integral to membrane	gap junction channel activity			ovary(2)|central_nervous_system(1)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)																---	---	---	---
DLGAP3	58512	broad.mit.edu	37	1	35370731	35370731	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35370731delC	uc001byc.2	-	1	254	c.254delG	c.(253-255)GGTfs	p.G85fs		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	85					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)																---	---	---	---
EIF2C1	26523	broad.mit.edu	37	1	36358976	36358976	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36358976delA	uc001bzl.2	+						EIF2C1_uc001bzk.2_Intron|EIF2C1_uc009vuy.2_5'Flank	NM_012199	NP_036331			eukaryotic translation initiation factor 2C, 1						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)																---	---	---	---
COL8A2	1296	broad.mit.edu	37	1	36564698	36564699	+	Frame_Shift_Ins	INS	-	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36564698_36564699insC	uc001bzv.1	-	2	590_591	c.583_584insG	c.(583-585)GAGfs	p.E195fs	COL8A2_uc001bzw.1_Frame_Shift_Ins_p.E130fs	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	195	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---
RRAGC	64121	broad.mit.edu	37	1	39322859	39322859	+	Intron	DEL	T	-	-	rs35965574		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39322859delT	uc001ccq.2	-						RRAGC_uc010oim.1_Intron|RRAGC_uc001ccr.2_Intron	NM_022157	NP_071440			Ras-related GTP binding C						apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			ovary(1)	1	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)																---	---	---	---
CTPS	1503	broad.mit.edu	37	1	41468770	41468771	+	Intron	INS	-	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41468770_41468771insC	uc001cgk.3	+						CTPS_uc010ojo.1_Intron|CTPS_uc001cgl.3_Intron|CTPS_uc010ojq.1_Intron|CTPS_uc009vwe.2_Intron	NM_001905	NP_001896			CTP synthase						CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)			L-Glutamine(DB00130)													---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	41990611	41990611	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41990611delA	uc001cgz.3	-						HIVEP3_uc001cha.3_Intron|HIVEP3_uc001cgy.2_Intron	NM_024503	NP_078779			human immunodeficiency virus type I enhancer						positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
ZMYND12	84217	broad.mit.edu	37	1	42905859	42905860	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42905859_42905860delAA	uc001chj.2	-						ZMYND12_uc010ojt.1_Intron	NM_032257	NP_115633			zinc finger, MYND-type containing 12 isoform 1							intracellular	zinc ion binding			ovary(1)	1	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---
CDC20	991	broad.mit.edu	37	1	43828529	43828530	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43828529_43828530insA	uc001cix.2	+						CDC20_uc001ciy.2_Intron	NM_001255	NP_001246			cell division cycle 20						activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding				0	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44010782	44010783	+	Frame_Shift_Ins	INS	-	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44010782_44010783insC	uc001cjr.2	+	3	376_377	c.36_37insC	c.(34-39)GTGCCCfs	p.V12fs	PTPRF_uc001cjq.3_Frame_Shift_Ins_p.V12fs|PTPRF_uc001cjs.2_Frame_Shift_Ins_p.V12fs|PTPRF_uc001cjt.3_Frame_Shift_Ins_p.V12fs	NM_002840	NP_002831	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	12_13					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1)	10	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)																---	---	---	---
TOE1	114034	broad.mit.edu	37	1	45807064	45807064	+	Intron	DEL	G	-	-	rs3811432	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45807064delG	uc009vxq.2	+						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_Intron|TOE1_uc010olm.1_Intron|TOE1_uc010oln.1_Intron|TOE1_uc001cnr.3_Intron	NM_025077	NP_079353			target of EGR1, member 1 (nuclear)							nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			central_nervous_system(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
Unknown	0	broad.mit.edu	37	1	50864506	50864506	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:50864506delA								ELAVL4 (196966 upstream) : DMRTA2 (18723 downstream)																																			---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52897141	52897141	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52897141delA	uc001ctx.2	-						ZCCHC11_uc001cty.2_Intron|ZCCHC11_uc001ctz.2_Intron|ZCCHC11_uc001cua.1_Intron	NM_015269	NP_056084			zinc finger, CCHC domain containing 11 isoform						miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52959246	52959246	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52959246delA	uc001ctx.2	-						ZCCHC11_uc001cty.2_Intron|ZCCHC11_uc001ctz.2_Intron|ZCCHC11_uc009vze.1_Intron|ZCCHC11_uc009vzf.1_Intron|ZCCHC11_uc001cub.2_Intron|ZCCHC11_uc001cuc.2_Intron	NM_015269	NP_056084			zinc finger, CCHC domain containing 11 isoform						miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53238351	53238352	+	Intron	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53238351_53238352delTT	uc001cuj.2	+						ZYG11B_uc009vzg.2_Intron|ZYG11B_uc010onj.1_Intron	NM_024646	NP_078922			zyg-11 homolog B								protein binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
CPT2	1376	broad.mit.edu	37	1	53676493	53676493	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53676493delT	uc001cvb.3	+	4	1662	c.1147delT	c.(1147-1149)TTTfs	p.F383fs		NM_000098	NP_000089	P23786	CPT2_HUMAN	carnitine O-palmitoyltransferase precursor	383	Mitochondrial matrix (By similarity).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity				0					L-Carnitine(DB00583)|Perhexiline(DB01074)													---	---	---	---
TMEM48	55706	broad.mit.edu	37	1	54259047	54259048	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54259047_54259048insA	uc001cvs.2	-						TMEM48_uc010onu.1_Intron|TMEM48_uc001cvt.2_Intron|TMEM48_uc009vzk.2_Intron|TMEM48_uc010onv.1_Intron	NM_018087	NP_060557			transmembrane protein 48						mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			ovary(1)|pancreas(1)	2																		---	---	---	---
PRKAA2	5563	broad.mit.edu	37	1	57158313	57158313	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:57158313delT	uc001cyk.3	+							NM_006252	NP_006243			AMP-activated protein kinase alpha 2 catalytic						carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(4)|ovary(1)|stomach(1)	6																		---	---	---	---
HOOK1	51361	broad.mit.edu	37	1	60314139	60314140	+	Frame_Shift_Ins	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:60314139_60314140insA	uc009wad.2	+	12	1184_1185	c.1082_1083insA	c.(1081-1083)TTAfs	p.L361fs	HOOK1_uc001czo.2_Frame_Shift_Ins_p.L361fs|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Frame_Shift_Ins_p.L319fs	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	hook homolog 1	361	Potential.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			ovary(1)|breast(1)	2	all_cancers(7;0.000129)																	---	---	---	---
TM2D1	83941	broad.mit.edu	37	1	62189461	62189461	+	Intron	DEL	A	-	-	rs147863719		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62189461delA	uc001czz.1	-							NM_032027	NP_114416			beta-amyloid binding protein precursor						apoptosis					ovary(1)	1																		---	---	---	---
INADL	10207	broad.mit.edu	37	1	62593474	62593474	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:62593474delA	uc001dab.2	+						INADL_uc001dac.2_Intron|INADL_uc009wag.2_Intron	NM_176877	NP_795352			InaD-like						intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			ovary(3)|skin(1)	4																		---	---	---	---
DOCK7	85440	broad.mit.edu	37	1	63063841	63063842	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:63063841_63063842insT	uc001daq.2	-						DOCK7_uc001dan.2_Intron|DOCK7_uc001dao.2_Intron|DOCK7_uc001dap.2_Intron|DOCK7_uc009wah.1_Intron|ANGPTL3_uc001das.1_Intron	NM_033407	NP_212132			dedicator of cytokinesis 7						activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2																		---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65068670	65068670	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65068670delT	uc001dbo.1	+						CACHD1_uc001dbp.1_Intron|CACHD1_uc001dbq.1_Intron	NM_020925	NP_065976			cache domain containing 1						calcium ion transport	integral to membrane				ovary(2)	2																		---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65306997	65306997	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65306997delT	uc001dbu.1	-	19	2829	c.2580delA	c.(2578-2580)AAAfs	p.K860fs	JAK1_uc009wam.1_Frame_Shift_Del_p.K848fs|JAK1_uc009wal.1_Frame_Shift_Del_p.K37fs	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	860					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)				Mis		ALL								---	---	---	---
JAK1	3716	broad.mit.edu	37	1	65330630	65330630	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65330630delT	uc001dbu.1	-	8	1265	c.1016delA	c.(1015-1017)AATfs	p.N339fs	JAK1_uc009wam.1_Frame_Shift_Del_p.N327fs	NM_002227	NP_002218	P23458	JAK1_HUMAN	janus kinase 1	339	FERM.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1)	61				BRCA - Breast invasive adenocarcinoma(111;0.0485)				Mis		ALL								---	---	---	---
LRRC7	57554	broad.mit.edu	37	1	70144021	70144021	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:70144021delA	uc001deo.1	+											SubName: Full=Leucine rich repeat containing 7; SubName: Full=cDNA FLJ54846, highly similar to Leucine-rich repeat-containing protein 7;							centrosome|focal adhesion|nucleolus	protein binding			ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14																		---	---	---	---
LRRIQ3	127255	broad.mit.edu	37	1	74506775	74506775	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:74506775delT	uc001dfy.3	-						LRRIQ3_uc001dfz.3_Intron	NM_001105659	NP_001099129			leucine-rich repeats and IQ motif containing 3											ovary(2)	2																		---	---	---	---
AK5	26289	broad.mit.edu	37	1	78022664	78022664	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78022664delT	uc001dhn.2	+						AK5_uc001dho.2_Intron	NM_174858	NP_777283			adenylate kinase 5 isoform 1						ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			skin(1)	1																		---	---	---	---
FAM73A	374986	broad.mit.edu	37	1	78338833	78338833	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78338833delT	uc001dhx.2	+						FAM73A_uc010ork.1_Intron|FAM73A_uc010orl.1_Intron	NM_198549	NP_940951			hypothetical protein LOC374986							integral to membrane				ovary(1)	1				Colorectal(170;0.226)														---	---	---	---
FUBP1	8880	broad.mit.edu	37	1	78414991	78414991	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78414991delA	uc001dii.2	-						FUBP1_uc001dih.3_Intron|FUBP1_uc010orm.1_Intron	NM_003902	NP_003893			far upstream element-binding protein						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	1	81674934	81674934	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:81674934delA								None (None upstream) : LPHN2 (96911 downstream)																																			---	---	---	---
TTLL7	79739	broad.mit.edu	37	1	84348563	84348564	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84348563_84348564insA	uc001djc.2	-						TTLL7_uc001djb.2_Intron|TTLL7_uc001djd.2_Intron|TTLL7_uc001dje.2_Intron|TTLL7_uc001djf.2_Intron|TTLL7_uc001djg.2_Intron	NM_024686	NP_078962			tubulin tyrosine ligase-like family, member 7						cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			ovary(1)	1				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	84709900	84709900	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:84709900delA								PRKACB (5721 upstream) : SAMD13 (54149 downstream)																																			---	---	---	---
EVI5	7813	broad.mit.edu	37	1	93070731	93070731	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:93070731delA	uc001dox.2	-						EVI5_uc010otf.1_Intron|EVI5_uc001doy.1_Intron	NM_005665	NP_005656			ecotropic viral integration site 5						cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			ovary(1)|breast(1)	2		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)														---	---	---	---
MTF2	22823	broad.mit.edu	37	1	93599280	93599280	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:93599280delA	uc009wdj.2	+	12	1473	c.1181delA	c.(1180-1182)GAAfs	p.E394fs	MTF2_uc010oth.1_Frame_Shift_Del_p.E292fs|MTF2_uc009wdk.2_Frame_Shift_Del_p.E337fs|MTF2_uc001dpi.3_Frame_Shift_Del_p.E121fs|MTF2_uc010oti.1_Frame_Shift_Del_p.E292fs|MTF2_uc001dpj.3_Frame_Shift_Del_p.E292fs|MTF2_uc001dpl.3_Frame_Shift_Del_p.E292fs|MTF2_uc001dpm.3_Frame_Shift_Del_p.E63fs	NM_007358	NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription	394						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)														---	---	---	---
DPYD	1806	broad.mit.edu	37	1	97544866	97544866	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:97544866delA	uc001drv.2	-							NM_000110	NP_000101			dihydropyrimidine dehydrogenase isoform 1						'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)													---	---	---	---
SASS6	163786	broad.mit.edu	37	1	100572825	100572825	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100572825delA	uc001dsu.2	-						SASS6_uc009wdz.2_Intron	NM_194292	NP_919268			spindle assembly abnormal protein 6						centriole replication	centriole				upper_aerodigestive_tract(1)|ovary(1)	2		all_epithelial(167;4.58e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.085)|all cancers(265;0.139)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.197)														---	---	---	---
CCDC76	54482	broad.mit.edu	37	1	100608625	100608626	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100608625_100608626insT	uc001dsv.2	+						CCDC76_uc010ouf.1_Intron|CCDC76_uc009wea.2_Intron	NM_019083	NP_061956			coiled-coil domain containing 76						tRNA processing		metal ion binding|methyltransferase activity			ovary(1)	1		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)														---	---	---	---
STXBP3	6814	broad.mit.edu	37	1	109325159	109325159	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109325159delT	uc001dvy.2	+						STXBP3_uc001dvz.2_Intron	NM_007269	NP_009200			syntaxin binding protein 3						negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			ovary(3)|central_nervous_system(1)	4		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)														---	---	---	---
SORT1	6272	broad.mit.edu	37	1	109883200	109883201	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109883200_109883201delAA	uc001dxm.1	-						SORT1_uc010ovi.1_Intron	NM_002959	NP_002950			sortilin 1 preproprotein						endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			ovary(1)	1		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)														---	---	---	---
ADORA3	140	broad.mit.edu	37	1	112031760	112031760	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112031760delT	uc001ebf.2	-						ADORA3_uc001ebg.3_Intron	NM_020683	NP_065734			adenosine A3 receptor isoform 1						activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			ovary(2)|large_intestine(1)|skin(1)	4		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)													---	---	---	---
CAPZA1	829	broad.mit.edu	37	1	113202207	113202209	+	Intron	DEL	TCT	-	-	rs3013438	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113202207_113202209delTCT	uc001ecj.1	+							NM_006135	NP_006126			F-actin capping protein alpha-1 subunit						actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding				0	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
PTPN22	26191	broad.mit.edu	37	1	114377352	114377352	+	Intron	DEL	A	-	-	rs79608028		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114377352delA	uc001eds.2	-						PTPN22_uc009wgq.2_Intron|PTPN22_uc010owo.1_Intron|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Intron|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Intron	NM_015967	NP_057051			protein tyrosine phosphatase, non-receptor type						negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114941979	114941979	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114941979delA	uc001eew.2	-						TRIM33_uc010owr.1_Intron|TRIM33_uc010ows.1_Intron|TRIM33_uc001eex.2_Intron	NM_015906	NP_056990			tripartite motif-containing 33 protein isoform						negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)				T	RET	papillary thyroid								---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114969991	114969991	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114969991delA	uc001eew.2	-						TRIM33_uc010owr.1_Intron|TRIM33_uc010ows.1_Intron|TRIM33_uc001eex.2_Intron	NM_015906	NP_056990			tripartite motif-containing 33 protein isoform						negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)				T	RET	papillary thyroid								---	---	---	---
TBX15	6913	broad.mit.edu	37	1	119469340	119469341	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:119469340_119469341insT	uc001ehl.1	-							NM_152380	NP_689593			T-box 15							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|pancreas(1)	2	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)														---	---	---	---
NBPF10	100132406	broad.mit.edu	37	1	145559919	145559919	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145559919delA	uc001emp.3	+						ANKRD35_uc010oyx.1_Intron|ANKRD35_uc001eob.1_Intron	NM_017940	NP_060410			hypothetical protein LOC55672												0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)														---	---	---	---
NBPF10	100132406	broad.mit.edu	37	1	145684794	145684794	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145684794delA	uc001emp.3	+						RNF115_uc001eoj.2_Intron|RNF115_uc001eok.2_Intron|RNF115_uc009wiy.2_Intron	NM_017940	NP_060410			hypothetical protein LOC55672												0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)														---	---	---	---
HORMAD1	84072	broad.mit.edu	37	1	150679276	150679276	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150679276delG	uc001evk.1	-	10	663	c.557delC	c.(556-558)CCAfs	p.P186fs	HORMAD1_uc001evl.1_Frame_Shift_Del_p.P179fs|HORMAD1_uc001evm.1_Frame_Shift_Del_p.P106fs	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	HORMA domain containing 1	186	HORMA.				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				ovary(2)|central_nervous_system(1)	3	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
FAM63A	55793	broad.mit.edu	37	1	150974465	150974465	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150974465delT	uc001ewf.2	-						FAM63A_uc001ewc.2_Intron|FAM63A_uc010pcm.1_Intron|FAM63A_uc001ewd.2_Intron|FAM63A_uc001ewe.2_Intron|FAM63A_uc010pcn.1_Intron|FAM63A_uc001ewg.2_Intron	NM_018379	NP_001156731			hypothetical protein LOC55793 isoform 1								protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)															---	---	---	---
PRUNE	58497	broad.mit.edu	37	1	150990220	150990220	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150990220delA	uc001ewh.1	+						PRUNE_uc001ewi.1_Intron|PRUNE_uc010pco.1_Intron|PRUNE_uc001ewj.1_Intron	NM_021222	NP_067045			prune							cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding			ovary(1)	1	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)															---	---	---	---
VPS72	6944	broad.mit.edu	37	1	151150319	151150319	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151150319delA	uc001exe.1	-						TMOD4_uc001exd.2_5'Flank|TMOD4_uc001exc.3_5'Flank|TMOD4_uc010pct.1_5'Flank|VPS72_uc001exf.1_3'UTR	NM_005997	NP_005988			transcription factor-like 1						chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|pancreas(1)	2	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;0.211)															---	---	---	---
POGZ	23126	broad.mit.edu	37	1	151402264	151402264	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151402264delA	uc001eyd.1	-						POGZ_uc001eye.1_Intron|POGZ_uc010pdb.1_Intron|POGZ_uc001eyf.1_Intron|POGZ_uc010pdc.1_Intron|POGZ_uc009wmv.1_Intron|POGZ_uc010pdd.1_Intron|POGZ_uc001eyg.1_Intron	NM_015100	NP_055915			pogo transposable element with ZNF domain						cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
TUFT1	7286	broad.mit.edu	37	1	151530466	151530466	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151530466delA	uc001eyl.2	+						TUFT1_uc001eym.2_Intron|TUFT1_uc010pdf.1_Intron|TUFT1_uc010pdg.1_Intron	NM_020127	NP_064512			tuftelin 1 isoform 1						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)															---	---	---	---
TDRKH	11022	broad.mit.edu	37	1	151755305	151755305	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151755305delT	uc009wnb.1	-						TDRKH_uc001eyy.2_Intron|TDRKH_uc001ezb.3_Intron|TDRKH_uc001ezc.3_Intron|TDRKH_uc001eza.3_Intron|TDRKH_uc001ezd.3_Intron|TDRKH_uc010pdn.1_Intron	NM_006862	NP_006853			tudor and KH domain containing isoform a								RNA binding			ovary(1)|pancreas(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---
Unknown	0	broad.mit.edu	37	1	153198550	153198550	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153198550delA								LELP1 (20956 upstream) : LOR (33629 downstream)																																			---	---	---	---
C1orf77	26097	broad.mit.edu	37	1	153608901	153608902	+	Intron	DEL	AG	-	-	rs35357072		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153608901_153608902delAG	uc001fcm.1	+						C1orf77_uc001fcn.1_Intron|C1orf77_uc001fco.1_5'Flank|S100A13_uc001fcj.2_5'Flank|C1orf77_uc009woi.1_Intron|C1orf77_uc009woj.1_Intron	NM_015607	NP_056422			small protein rich in arginine and glycine						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding				0	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
INTS3	65123	broad.mit.edu	37	1	153742532	153742532	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153742532delG	uc009wom.2	+						INTS3_uc001fct.2_Intron|INTS3_uc001fcu.2_Intron|INTS3_uc001fcv.2_Intron|INTS3_uc010peb.1_Intron|INTS3_uc001fcw.2_Intron|INTS3_uc010pec.1_Intron|INTS3_uc001fcy.2_Intron|INTS3_uc001fcx.2_Intron	NM_023015	NP_075391			integrator complex subunit 3						DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
TPM3	7170	broad.mit.edu	37	1	154163449	154163449	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154163449delA	uc001fec.1	-							NM_152263	NP_689476			tropomyosin 3 isoform 1						cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/ALK(33)	haematopoietic_and_lymphoid_tissue(22)|soft_tissue(11)|skin(1)	34	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)							T	NTRK1|ALK	papillary thyroid|ALCL								---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155365459	155365459	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155365459delA	uc009wqq.2	-						ASH1L_uc001fkt.2_Intron	NM_018489	NP_060959			absent, small, or homeotic 1-like						cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)															---	---	---	---
SEMA4A	64218	broad.mit.edu	37	1	156146087	156146088	+	Intron	DEL	AA	-	-	rs80168763		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156146087_156146088delAA	uc001fnl.2	+						SEMA4A_uc009wrq.2_Intron|SEMA4A_uc001fnm.2_Intron|SEMA4A_uc001fnn.2_Intron|SEMA4A_uc001fno.2_Intron	NM_022367	NP_071762			semaphorin B precursor						axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)																	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158619548	158619549	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158619548_158619549insA	uc001fst.1	-							NM_003126	NP_003117			spectrin, alpha, erythrocytic 1						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---
DEDD	9191	broad.mit.edu	37	1	161093498	161093498	+	Intron	DEL	T	-	-	rs112931699		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161093498delT	uc001fxz.2	-						NIT1_uc001fxw.2_Intron|DEDD_uc009wty.2_Intron|DEDD_uc001fya.2_Intron|DEDD_uc001fyb.2_Intron|DEDD_uc010pkb.1_Intron|DEDD_uc001fyc.2_Intron	NM_001039712	NP_001034801			death effector domain-containing protein						apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding				0	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)															---	---	---	---
FCGR2A	2212	broad.mit.edu	37	1	161475873	161475873	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161475873delG	uc001gan.2	+						FCGR2A_uc001gam.2_Intron|FCGR2A_uc001gao.2_5'Flank	NM_001136219	NP_001129691			Fc fragment of IgG, low affinity IIa, receptor							integral to membrane|plasma membrane	IgG binding|receptor activity			ovary(1)	1	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---
Unknown	0	broad.mit.edu	37	1	161570233	161570233	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161570233delT								FCGR2C (202 upstream) : HSPA7 (5616 downstream)																																			---	---	---	---
MGST3	4259	broad.mit.edu	37	1	165618961	165618961	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:165618961delT	uc001gdf.2	+						MGST3_uc001gdg.2_Intron	NM_004528	NP_004519			microsomal glutathione S-transferase 3						leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)													---	---	---	---
MGST3	4259	broad.mit.edu	37	1	165623279	165623281	+	Intron	DEL	AGG	-	-	rs140199766		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:165623279_165623281delAGG	uc001gdf.2	+						MGST3_uc001gdg.2_Intron	NM_004528	NP_004519			microsomal glutathione S-transferase 3						leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)													---	---	---	---
TADA1	117143	broad.mit.edu	37	1	166839140	166839141	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166839140_166839141insT	uc001gdw.2	-						TADA1_uc009wve.2_Intron	NM_053053	NP_444281			transcriptional adaptor 1-like						histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			ovary(1)	1																		---	---	---	---
ILDR2	387597	broad.mit.edu	37	1	166896133	166896133	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166896133delT	uc001gdx.1	-							NM_199351	NP_955383			immunoglobulin-like domain containing receptor							integral to membrane				ovary(1)	1																		---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167865906	167865906	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:167865906delG	uc001ger.2	-	7	964	c.666delC	c.(664-666)CCCfs	p.P222fs	ADCY10_uc009wvk.2_Frame_Shift_Del_p.P130fs|ADCY10_uc010plj.1_Frame_Shift_Del_p.P69fs|ADCY10_uc009wvl.2_Frame_Shift_Del_p.P221fs|ADCY10_uc009wvm.2_RNA	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10	222					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
SELE	6401	broad.mit.edu	37	1	169701554	169701555	+	Intron	DEL	TG	-	-	rs56090594		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169701554_169701555delTG	uc001ggm.3	-						C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441			selectin E precursor						actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)																	---	---	---	---
SCYL3	57147	broad.mit.edu	37	1	169823174	169823174	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169823174delT	uc001ggs.2	-						SCYL3_uc010plw.1_Intron|SCYL3_uc001ggt.2_Intron|SCYL3_uc001ggu.2_Intron	NM_181093	NP_851607			SCY1-like 3 isoform 2						cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			ovary(1)|skin(1)	2	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
BAT2L2	23215	broad.mit.edu	37	1	171452363	171452363	+	5'Flank	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171452363delA	uc010pmg.1	+						BAT2L2_uc001ghq.1_5'Flank|BAT2L2_uc001ghr.1_5'Flank	NM_015172	NP_055987			HBxAg transactivated protein 2								protein C-terminus binding				0																		---	---	---	---
SLC9A11	284525	broad.mit.edu	37	1	173551195	173551196	+	Intron	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173551195_173551196delTT	uc001giz.2	-						SLC9A11_uc010pmq.1_Intron	NM_178527	NP_848622			solute carrier family 9, member 11						sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2																		---	---	---	---
CENPL	91687	broad.mit.edu	37	1	173772753	173772753	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173772753delA	uc001gje.3	-						CENPL_uc009wwg.2_Intron|CENPL_uc001gjg.3_Intron|CENPL_uc001gjf.3_Intron	NM_033319	NP_201576			centromere protein L isoform 2						mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus					0																		---	---	---	---
RABGAP1L	9910	broad.mit.edu	37	1	174721308	174721308	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174721308delA	uc001gjx.2	+						RABGAP1L_uc001gkb.3_Intron|RABGAP1L_uc001gkc.3_Intron|RABGAP1L_uc001gkd.3_Intron	NM_014857	NP_055672			RAB GTPase activating protein 1-like isoform A						regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			ovary(2)|lung(1)|kidney(1)	4																		---	---	---	---
RFWD2	64326	broad.mit.edu	37	1	175914319	175914319	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175914319delA	uc001gku.1	-						RFWD2_uc001gkv.1_Intron|RFWD2_uc001gkw.1_Intron|RFWD2_uc009wwv.2_Intron|RFWD2_uc001gkt.1_Intron	NM_022457	NP_071902			ring finger and WD repeat domain 2 isoform a						DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
RFWD2	64326	broad.mit.edu	37	1	176145160	176145160	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176145160delA	uc001gku.1	-						RFWD2_uc001gkv.1_Intron|RFWD2_uc001gkw.1_Intron|RFWD2_uc001gkt.1_Intron	NM_022457	NP_071902			ring finger and WD repeat domain 2 isoform a						DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
SEC16B	89866	broad.mit.edu	37	1	177899788	177899788	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:177899788delA	uc001gli.1	-						SEC16B_uc001glk.1_Intron|SEC16B_uc009wwy.1_Intron|SEC16B_uc001glh.1_Intron|SEC16B_uc009wwz.1_Intron|SEC16B_uc001glj.1_Intron	NM_033127	NP_149118			leucine zipper transcription regulator 2						protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4																		---	---	---	---
ACBD6	84320	broad.mit.edu	37	1	180404392	180404392	+	Intron	DEL	T	-	-	rs114573269	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180404392delT	uc001gog.2	-							NM_032360	NP_115736			acyl-coenzyme A binding domain containing 6							cytoplasm|nucleus	fatty-acyl-CoA binding			ovary(1)	1																		---	---	---	---
RGL1	23179	broad.mit.edu	37	1	183774609	183774610	+	Intron	DEL	CT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183774609_183774610delCT	uc001gqo.2	+						RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron|RGL1_uc010poi.1_Intron	NM_015149	NP_055964			ral guanine nucleotide dissociation						cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11																		---	---	---	---
TPR	7175	broad.mit.edu	37	1	186326356	186326356	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186326356delT	uc001grv.2	-							NM_003292	NP_003283			nuclear pore complex-associated protein TPR						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
TPR	7175	broad.mit.edu	37	1	186343826	186343827	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186343826_186343827insT	uc001grv.2	-						C1orf27_uc001grw.2_5'Flank|C1orf27_uc010poq.1_5'Flank|C1orf27_uc010por.1_5'Flank|TPR_uc010pop.1_Intron	NM_003292	NP_003283			nuclear pore complex-associated protein TPR						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---
CDC73	79577	broad.mit.edu	37	1	193218808	193218809	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:193218808_193218809insT	uc001gtb.2	+							NM_024529	NP_078805			parafibromin						cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			parathyroid(46)|ovary(1)|breast(1)|pancreas(1)	49														Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome				---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196249904	196249904	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196249904delT	uc001gtd.1	-						KCNT2_uc009wyt.1_Intron|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Intron|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_3'UTR|KCNT2_uc001gth.1_Intron	NM_198503	NP_940905			potassium channel, subfamily T, member 2							voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7																		---	---	---	---
CFHR4	10877	broad.mit.edu	37	1	196883941	196883941	+	Intron	DEL	A	-	-	rs149571115		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196883941delA	uc001gto.2	+						CFHR4_uc009wyy.2_Intron|CFHR4_uc001gtp.2_Intron	NM_006684	NP_006675			complement factor H-related 4 precursor							extracellular region	lipid transporter activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197073232	197073232	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197073232delT	uc001gtu.2	-	18	5406	c.5149delA	c.(5149-5151)ATAfs	p.I1717fs	ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1717					mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197091176	197091176	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197091176delA	uc001gtu.2	-						ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606			asp (abnormal spindle)-like, microcephaly						mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197411573	197411573	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197411573delA	uc001gtz.2	+						CRB1_uc010poz.1_Intron|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Intron|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Intron|CRB1_uc001gub.1_3'UTR	NM_201253	NP_957705			crumbs homolog 1 precursor						cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9																		---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200567341	200567341	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200567341delT	uc010ppk.1	-						KIF14_uc010ppj.1_Intron	NM_014875	NP_055690			kinesin family member 14						microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7																		---	---	---	---
KIF21B	23046	broad.mit.edu	37	1	200967487	200967488	+	Intron	INS	-	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200967487_200967488insG	uc001gvs.1	-						KIF21B_uc001gvr.1_Intron|KIF21B_uc009wzl.1_Intron|KIF21B_uc010ppn.1_Intron	NM_017596	NP_060066			kinesin family member 21B						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(3)	6																		---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201021924	201021924	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201021924delA	uc001gvv.2	-							NM_000069	NP_000060			calcium channel, voltage-dependent, L type,						axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
GPR37L1	9283	broad.mit.edu	37	1	202092168	202092168	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202092168delC	uc001gxj.2	+	1	140	c.77delC	c.(76-78)GCCfs	p.A26fs		NM_004767	NP_004758	O60883	ETBR2_HUMAN	G-protein coupled receptor 37 like 1 precursor	26	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
RBBP5	5929	broad.mit.edu	37	1	205074303	205074303	+	Intron	DEL	A	-	-	rs79372739		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205074303delA	uc001hbu.1	-						RBBP5_uc010prd.1_Intron|RBBP5_uc001hbv.1_Intron|RBBP5_uc010pre.1_Intron	NM_005057	NP_005048			retinoblastoma binding protein 5						histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			lung(1)	1	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)															---	---	---	---
PLXNA2	5362	broad.mit.edu	37	1	208224174	208224175	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:208224174_208224175delAA	uc001hgz.2	-							NM_025179	NP_079455			plexin A2 precursor						axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	209621804	209621804	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:209621804delT								LOC642587 (15914 upstream) : CAMK1G (135241 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	1	210438731	210438731	+	IGR	DEL	T	-	-	rs138584592		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:210438731delT								SERTAD4 (22293 upstream) : HHAT (62875 downstream)																																			---	---	---	---
HHAT	55733	broad.mit.edu	37	1	210686634	210686635	+	Intron	INS	-	TA	TA			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:210686634_210686635insTA	uc009xcx.2	+						HHAT_uc010psq.1_Intron|HHAT_uc001hhz.3_Intron|HHAT_uc010psr.1_Intron|HHAT_uc010pss.1_Intron|HHAT_uc009xcy.2_Intron|HHAT_uc010pst.1_Intron|HHAT_uc010psu.1_Intron|HHAT_uc001hia.3_Intron	NM_001122834	NP_001116306			hedgehog acyltransferase						multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)														---	---	---	---
RCOR3	55758	broad.mit.edu	37	1	211462410	211462410	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:211462410delT	uc001hig.2	+						RCOR3_uc010psv.1_Intron|RCOR3_uc001hie.2_Intron|RCOR3_uc010psw.1_Intron|RCOR3_uc001hif.2_Intron	NM_018254	NP_060724			REST corepressor 3 isoform d						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)														---	---	---	---
RPS6KC1	26750	broad.mit.edu	37	1	213341189	213341189	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:213341189delT	uc010ptr.1	+						RPS6KC1_uc001hkd.2_Intron|RPS6KC1_uc010pts.1_Intron|RPS6KC1_uc010ptt.1_Intron|RPS6KC1_uc010ptu.1_Intron|RPS6KC1_uc010ptv.1_Intron|RPS6KC1_uc001hke.2_Intron	NM_012424	NP_036556			ribosomal protein S6 kinase, 52kDa, polypeptide						cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			lung(4)|ovary(3)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)														---	---	---	---
KCTD3	51133	broad.mit.edu	37	1	215749407	215749407	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215749407delT	uc001hks.2	+						KCTD3_uc001hkt.2_Intron|KCTD3_uc010pub.1_Intron|KCTD3_uc009xdn.2_5'Flank	NM_016121	NP_057205			potassium channel tetramerisation domain							voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			ovary(3)	3				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	222435119	222435119	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222435119delT								DUSP10 (519658 upstream) : HHIPL2 (260483 downstream)																																			---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222806607	222806607	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222806607delT	uc001hnl.2	+						MIA3_uc009xea.1_Intron	NM_198551	NP_940953			melanoma inhibitory activity family, member 3						exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			ovary(4)|central_nervous_system(1)	5				GBM - Glioblastoma multiforme(131;0.0199)														---	---	---	---
ENAH	55740	broad.mit.edu	37	1	225718042	225718042	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:225718042delA	uc001hpc.1	-						ENAH_uc001hpd.1_Intron	NM_001008493	NP_001008493			enabled homolog isoform a						axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			ovary(1)|skin(1)	2	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)														---	---	---	---
TMEM63A	9725	broad.mit.edu	37	1	226036322	226036323	+	Intron	DEL	AC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226036322_226036323delAC	uc001hpm.1	-							NM_014698	NP_055513			transmembrane protein 63A							integral to membrane|lysosomal membrane	nucleotide binding			ovary(1)|breast(1)	2	Breast(184;0.197)																	---	---	---	---
LIN9	286826	broad.mit.edu	37	1	226475683	226475684	+	Intron	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226475683_226475684delTT	uc001hqa.2	-						LIN9_uc001hqb.2_Intron|LIN9_uc001hqc.2_Intron|LIN9_uc009xel.1_Intron	NM_173083	NP_775106			lin-9 homolog						cell cycle|DNA replication	nucleoplasm					0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)														---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226923661	226923661	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226923661delC	uc010pvo.1	-	2	1839	c.1499delG	c.(1498-1500)GGTfs	p.G500fs	ITPKB_uc001hqh.2_Frame_Shift_Del_p.G500fs	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	500							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)																---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229631436	229631436	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229631436delA	uc001htn.2	-							NM_018230	NP_060700			nucleoporin 133kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			breast(4)|skin(2)|ovary(1)	7	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---
TAF5L	27097	broad.mit.edu	37	1	229745963	229745965	+	Intron	DEL	GAG	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229745963_229745965delGAG	uc001htq.2	-						TAF5L_uc001htr.2_Intron	NM_014409	NP_055224			PCAF associated factor 65 beta isoform a						histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(1)	1	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---
TRIM67	440730	broad.mit.edu	37	1	231342636	231342636	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:231342636delG	uc009xfn.1	+							NM_001004342	NP_001004342			tripartite motif-containing 67							cytoplasm|cytoskeleton	zinc ion binding			ovary(2)|breast(1)|kidney(1)	4	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)																---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234529023	234529023	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:234529023delT	uc001hwd.2	-							NM_005646	NP_005637			TAR RNA binding protein 1						regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)															---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235331782	235331782	+	3'UTR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235331782delA	uc001hwq.2	-	24					ARID4B_uc001hwr.2_3'UTR|ARID4B_uc001hwp.2_Intron	NM_016374	NP_057458			AT rich interactive domain 4B isoform 1						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)															---	---	---	---
NID1	4811	broad.mit.edu	37	1	236180690	236180690	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236180690delT	uc001hxo.2	-						NID1_uc009xgd.2_Intron	NM_002508	NP_002499			nidogen 1 precursor						cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)													---	---	---	---
Unknown	0	broad.mit.edu	37	1	236275705	236275705	+	IGR	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236275705delC								NID1 (47224 upstream) : GPR137B (30127 downstream)																																			---	---	---	---
ERO1LB	56605	broad.mit.edu	37	1	236395980	236395980	+	Intron	DEL	T	-	-	rs111892910		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236395980delT	uc001hxt.2	-							NM_019891	NP_063944			endoplasmic reticulum oxidoreductin 1-Lbeta						electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding				0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)															---	---	---	---
Unknown	0	broad.mit.edu	37	1	241996122	241996123	+	IGR	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:241996122_241996123insA								WDR64 (31165 upstream) : EXO1 (15412 downstream)																																			---	---	---	---
TFB2M	64216	broad.mit.edu	37	1	246711788	246711789	+	Intron	DEL	AT	-	-	rs12087297	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246711788_246711789delAT	uc001ibn.2	-							NM_022366	NP_071761			transcription factor B2, mitochondrial						positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)															---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247004304	247004304	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247004304delA	uc001ibu.1	-						AHCTF1_uc001ibv.1_Intron|AHCTF1_uc009xgs.1_Intron	NM_015446	NP_056261			transcription factor ELYS						cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			ovary(5)|skin(2)	7	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)															---	---	---	---
OR2T8	343172	broad.mit.edu	37	1	248084228	248084228	+	5'Flank	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248084228delT	uc010pzc.1	+							NM_001005522	NP_001005522			olfactory receptor, family 2, subfamily T,						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)															---	---	---	---
ZNF692	55657	broad.mit.edu	37	1	249150856	249150856	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:249150856delT	uc001ifc.1	-						ZNF692_uc001iez.1_5'Flank|ZNF692_uc001ifa.1_Intron|ZNF692_uc001ifb.1_Intron|ZNF692_uc001ifd.1_Intron|ZNF692_uc001ife.1_Intron|ZNF692_uc001iff.1_Intron|ZNF692_uc010pzr.1_Intron	NM_017865	NP_060335			zinc finger protein 692 isoform 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)															---	---	---	---
TAF1B	9014	broad.mit.edu	37	2	9989571	9989571	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:9989571delA	uc002qzz.2	+	3	287	c.187delA	c.(187-189)AAAfs	p.K63fs	TAF1B_uc010exc.2_Frame_Shift_Del_p.K63fs|TAF1B_uc002qzy.3_Frame_Shift_Del_p.K63fs|TAF1B_uc010yja.1_5'UTR|TAF1B_uc010exd.2_5'UTR	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	TBP-associated factor 1B	63					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|breast(1)|pancreas(1)	3	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
E2F6	1876	broad.mit.edu	37	2	11590394	11590396	+	Intron	DEL	AAA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:11590394_11590396delAAA	uc002rbh.2	-						E2F6_uc002rbe.2_Intron|E2F6_uc002rbf.2_Intron|E2F6_uc002rbg.2_Intron|E2F6_uc002rbi.2_Intron|E2F6_uc010yjl.1_Intron	NM_198256	NP_937987			E2F transcription factor 6						negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			skin(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)														---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15534569	15534569	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:15534569delA	uc002rcc.1	-						NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_Intron	NM_015909	NP_056993			neuroblastoma-amplified protein											ovary(2)|liver(1)|skin(1)	4																		---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17906640	17906640	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17906640delA	uc002rco.2	-						SMC6_uc010exo.2_Intron|SMC6_uc002rcn.2_Intron|SMC6_uc002rcp.1_Intron|SMC6_uc002rcq.2_Intron|SMC6_uc002rcr.1_Intron	NM_001142286	NP_001135758			SMC6 protein						DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17907553	17907553	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:17907553delA	uc002rco.2	-						SMC6_uc010exo.2_Intron|SMC6_uc002rcn.2_Intron|SMC6_uc002rcp.1_Intron|SMC6_uc002rcq.2_Intron|SMC6_uc002rcr.1_Intron	NM_001142286	NP_001135758			SMC6 protein						DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(4)|upper_aerodigestive_tract(1)|kidney(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
KCNS3	3790	broad.mit.edu	37	2	18113028	18113029	+	Frame_Shift_Ins	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:18113028_18113029insA	uc002rcv.2	+	3	1204_1205	c.753_754insA	c.(751-756)TGGAAAfs	p.W251fs	KCNS3_uc002rcw.2_Frame_Shift_Ins_p.W251fs	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	251_252	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
MATN3	4148	broad.mit.edu	37	2	20193033	20193033	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20193033delA	uc002rdl.2	-							NM_002381	NP_002372			matrilin 3 precursor						skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
TMEM214	54867	broad.mit.edu	37	2	27257976	27257976	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27257976delG	uc002ria.3	+						TMEM214_uc010yle.1_Intron|TMEM214_uc002rib.3_Intron	NM_017727	NP_060197			transmembrane protein 214 isoform 1							integral to membrane	protein binding				0																		---	---	---	---
SUPT7L	9913	broad.mit.edu	37	2	27878208	27878211	+	Intron	DEL	AGTG	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27878208_27878211delAGTG	uc002rlh.1	-						SUPT7L_uc002rli.1_Intron|SUPT7L_uc010ymf.1_Intron|SUPT7L_uc002rlj.1_Intron|SUPT7L_uc010ezh.1_Intron	NM_014860	NP_055675			SPTF-associated factor 65 gamma						histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			skin(2)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
PPP1CB	5500	broad.mit.edu	37	2	29011716	29011717	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29011716_29011717insT	uc002rmg.2	+						PPP1CB_uc010ymj.1_Intron|PPP1CB_uc010yml.1_Intron|PPP1CB_uc002rmh.2_Intron|SPDYA_uc002rmi.2_Intron	NM_206876	NP_996759			protein phosphatase 1, catalytic subunit, beta						cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
Unknown	0	broad.mit.edu	37	2	30879919	30879920	+	IGR	INS	-	TCTT	TCTT	rs140191287	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:30879919_30879920insTCTT								LCLAT1 (12829 upstream) : CAPN13 (65720 downstream)																																			---	---	---	---
HEATR5B	54497	broad.mit.edu	37	2	37293106	37293106	+	Intron	DEL	T	-	-	rs149856320	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37293106delT	uc002rpp.1	-							NM_019024	NP_061897			HEAT repeat containing 5B								binding			ovary(5)|skin(2)|breast(1)	8		all_hematologic(82;0.21)																---	---	---	---
CEBPZ	10153	broad.mit.edu	37	2	37438026	37438027	+	Intron	INS	-	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37438026_37438027insC	uc002rpz.2	-							NM_005760	NP_005751			CCAAT/enhancer binding protein zeta						regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			pancreas(1)	1		all_hematologic(82;0.21)																---	---	---	---
PRKD3	23683	broad.mit.edu	37	2	37516691	37516691	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37516691delA	uc002rqd.2	-						PRKD3_uc002rqf.1_Intron	NM_005813	NP_005804			protein kinase D3						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(2)|ovary(1)|central_nervous_system(1)	4		all_hematologic(82;0.21)																---	---	---	---
HNRPLL	92906	broad.mit.edu	37	2	38813168	38813168	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:38813168delT	uc002rqw.2	-						HNRPLL_uc002rqx.2_Intron	NM_138394	NP_612403			heterogeneous nuclear ribonucleoprotein L-like						mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			skin(1)	1		all_hematologic(82;0.248)																---	---	---	---
GALM	130589	broad.mit.edu	37	2	38902888	38902888	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:38902888delT	uc002rqy.2	+							NM_138801	NP_620156			galactose mutarotase						hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding				0		all_hematologic(82;0.248)																---	---	---	---
SOS1	6654	broad.mit.edu	37	2	39262473	39262473	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39262473delT	uc002rrk.3	-						SOS1_uc010ynr.1_Intron|SOS1_uc002rrj.3_5'Flank|SOS1_uc002rrl.2_Intron	NM_005633	NP_005624			son of sevenless homolog 1						apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)												Noonan_syndrome				---	---	---	---
TMEM178	130733	broad.mit.edu	37	2	39893267	39893267	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:39893267delC	uc002rrt.2	+	1	178	c.153delC	c.(151-153)GACfs	p.D51fs	TMEM178_uc010fam.1_Frame_Shift_Del_p.D51fs	NM_152390	NP_689603	Q8NBL3	TM178_HUMAN	transmembrane protein 178 precursor	51	Extracellular (Potential).					integral to membrane					0		all_hematologic(82;0.248)																---	---	---	---
EML4	27436	broad.mit.edu	37	2	42508205	42508205	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:42508205delA	uc002rsi.2	+						EML4_uc010fap.2_Intron	NM_019063	NP_061936			echinoderm microtubule associated protein like 4						microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(246)	lung(246)|ovary(2)|central_nervous_system(1)|skin(1)	250								T	ALK	NSCLC								---	---	---	---
THADA	63892	broad.mit.edu	37	2	43768234	43768234	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43768234delA	uc002rsw.3	-						THADA_uc010far.2_Intron|THADA_uc002rsx.3_Intron|THADA_uc002rsy.3_Intron|THADA_uc010fas.1_Intron|THADA_uc002rsz.2_Intron|THADA_uc010fat.1_Intron|THADA_uc002rta.2_Intron	NM_001083953	NP_001077422			thyroid adenoma associated								binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)																---	---	---	---
LRPPRC	10128	broad.mit.edu	37	2	44139392	44139392	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44139392delT	uc002rtr.2	-						LRPPRC_uc010yob.1_Intron	NM_133259	NP_573566			leucine-rich PPR motif-containing protein						mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			ovary(2)|skin(1)	3		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)																---	---	---	---
MSH2	4436	broad.mit.edu	37	2	47637247	47637248	+	Frame_Shift_Del	DEL	TC	-	-	rs145649774		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:47637247_47637248delTC	uc002rvy.1	+	3	449_450	c.381_382delTC	c.(379-384)AATCTCfs	p.N127fs	MSH2_uc010yoh.1_Frame_Shift_Del_p.N61fs|MSH2_uc002rvz.2_Frame_Shift_Del_p.N127fs|MSH2_uc010fbg.2_5'UTR|MSH2_uc010fbf.1_Intron	NM_000251	NP_000242	P43246	MSH2_HUMAN	mutS homolog 2	127_128					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding			large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1)	55		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)					D|Mis|N|F|S		colorectal|endometrial|ovarian	colorectal|endometrial|ovarian		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---
KLRAQ1	129285	broad.mit.edu	37	2	48738838	48738839	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48738838_48738839delAA	uc002rwm.2	+						KLRAQ1_uc002rwl.2_Intron|KLRAQ1_uc002rwk.2_Intron|KLRAQ1_uc010yok.1_Intron	NM_001135629	NP_001129101			KLRAQ motif containing 1 isoform 1											ovary(1)	1																		---	---	---	---
PSME4	23198	broad.mit.edu	37	2	54163841	54163841	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54163841delG	uc002rxp.2	-						PSME4_uc010yop.1_Intron|PSME4_uc010yoq.1_Intron|PSME4_uc010fbu.1_Intron|PSME4_uc010fbv.1_Intron	NM_014614	NP_055429			proteasome (prosome, macropain) activator						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			ovary(2)|breast(2)|pancreas(1)	5			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)															---	---	---	---
SPTBN1	6711	broad.mit.edu	37	2	54887052	54887052	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54887052delT	uc002rxu.2	+						SPTBN1_uc002rxx.2_Intron|SPTBN1_uc002rxy.2_Intron|SPTBN1_uc010you.1_Intron	NM_003128	NP_003119			spectrin, beta, non-erythrocytic 1 isoform 1						actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)															---	---	---	---
SPTBN1	6711	broad.mit.edu	37	2	54894682	54894682	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:54894682delG	uc002rxu.2	+						SPTBN1_uc010you.1_Intron	NM_003128	NP_003119			spectrin, beta, non-erythrocytic 1 isoform 1						actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8			Lung(47;0.24)															---	---	---	---
Unknown	0	broad.mit.edu	37	2	56216019	56216019	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:56216019delC	uc002rzk.2	+											Homo sapiens, clone IMAGE:3873411, mRNA.																														---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63220993	63220993	+	Intron	DEL	T	-	-	rs78094292		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:63220993delT	uc002sby.2	+						EHBP1_uc010fcp.2_Intron|EHBP1_uc002sbz.2_Intron|EHBP1_uc002scb.2_Intron	NM_015252	NP_056067			EH domain binding protein 1 isoform 1							cytoplasm|membrane				ovary(1)|breast(1)	2	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)											Hereditary_Prostate_Cancer				---	---	---	---
MEIS1	4211	broad.mit.edu	37	2	66662876	66662884	+	5'UTR	DEL	TTTTTTTTT	-	-	rs2901852		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:66662876_66662884delTTTTTTTTT	uc002sdu.2	+	1					MEIS1_uc002sdt.2_5'UTR|MEIS1_uc002sdv.2_5'Flank|MEIS1_uc010yqh.1_5'Flank	NM_002398	NP_002389			Meis homeobox 1								sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
ETAA1	54465	broad.mit.edu	37	2	67626185	67626185	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:67626185delA	uc002sdz.1	+							NM_019002	NP_061875			ETAA16 protein							cytoplasm|nucleus				ovary(3)|large_intestine(1)	4																		---	---	---	---
AAK1	22848	broad.mit.edu	37	2	69736630	69736630	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69736630delA	uc002sfp.2	-						AAK1_uc010fdk.2_Intron|AAK1_uc010yqm.1_Intron	NM_014911	NP_055726			AP2 associated kinase 1							coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0																		---	---	---	---
AAK1	22848	broad.mit.edu	37	2	69825649	69825649	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69825649delT	uc002sfp.2	-						AAK1_uc010fdk.2_Intron|AAK1_uc010yqm.1_Intron|AAK1_uc010fdm.1_Intron	NM_014911	NP_055726			AP2 associated kinase 1							coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity				0																		---	---	---	---
MRPL19	9801	broad.mit.edu	37	2	75879616	75879616	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:75879616delA	uc002snl.2	+						MRPL19_uc002snm.1_Intron	NM_014763	NP_055578			mitochondrial ribosomal protein L19 precursor						translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome				0																		---	---	---	---
KCMF1	56888	broad.mit.edu	37	2	85255315	85255315	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85255315delT	uc002sox.3	+							NM_020122	NP_064507			potassium channel modulatory factor 1							intracellular	ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
TMEM150A	129303	broad.mit.edu	37	2	85826574	85826574	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85826574delC	uc002spw.1	-						TMEM150A_uc002spx.1_Intron|TMEM150A_uc002spz.1_Intron|TMEM150A_uc002sqa.1_Intron|TMEM150A_uc002spy.1_Intron	NM_001031738	NP_001026908			transmembrane protein 150A isoform 1							integral to membrane|plasma membrane					0																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	88553744	88553744	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88553744delA								THNSL2 (67599 upstream) : FOXI3 (193982 downstream)																																			---	---	---	---
FAHD2A	51011	broad.mit.edu	37	2	96078466	96078466	+	Frame_Shift_Del	DEL	C	-	-	rs148515677		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96078466delC	uc002sur.2	+	7	1015	c.836delC	c.(835-837)ACCfs	p.T279fs	FAHD2A_uc002sus.2_Frame_Shift_Del_p.T279fs|uc002sut.1_5'Flank	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing	279							hydrolase activity|metal ion binding			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	96593285	96593285	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96593285delT	uc002sva.1	-						uc010yug.1_Intron|uc002svc.1_5'Flank					Homo sapiens cDNA FLJ41632 fis, clone FCBBF1000297, highly  similar to Human protein immuno-reactive with anti-PTH polyclonal antibodies mRNA.																														---	---	---	---
SNRNP200	23020	broad.mit.edu	37	2	96952162	96952162	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96952162delG	uc002svu.2	-	29	3976	c.3890delC	c.(3889-3891)CCTfs	p.P1297fs	SNRNP200_uc002svt.2_5'Flank|SNRNP200_uc010yuj.1_5'Flank|SNRNP200_uc002svv.1_5'Flank|SNRNP200_uc002svw.1_Frame_Shift_Del_p.P369fs	NM_014014	NP_054733	O75643	U520_HUMAN	activating signal cointegrator 1 complex subunit	1297						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			ovary(5)|skin(4)|large_intestine(1)	10																		---	---	---	---
ANKRD36	375248	broad.mit.edu	37	2	97899336	97899336	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97899336delA	uc010yva.1	+						ANKRD36_uc002sxr.1_Intron	NM_001164315	NP_001157787			ankyrin repeat domain 36												0																		---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98430623	98430624	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98430623_98430624insA	uc002syh.3	-							NM_015348	NP_056163			RW1 protein							integral to membrane				ovary(4)|central_nervous_system(2)	6																		---	---	---	---
VWA3B	200403	broad.mit.edu	37	2	98872571	98872571	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98872571delT	uc002syo.2	+						VWA3B_uc002sym.2_Intron|VWA3B_uc002syn.1_Intron|VWA3B_uc010yvi.1_Intron|VWA3B_uc002syp.1_Intron|VWA3B_uc002syq.1_Intron|VWA3B_uc002syr.1_Intron|VWA3B_uc002sys.2_Intron	NM_144992	NP_659429			von Willebrand factor A domain containing 3B											ovary(3)|large_intestine(2)|skin(1)	6																		---	---	---	---
MGAT4A	11320	broad.mit.edu	37	2	99241956	99241956	+	3'UTR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99241956delA	uc002sze.2	-	16					C2orf64_uc002sza.2_Intron|MGAT4A_uc010yvm.1_Intron|MGAT4A_uc010fil.2_3'UTR	NM_012214	NP_036346			alpha-1,3-mannosyl-glycoprotein						N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			skin(1)	1																		---	---	---	---
C2orf55	343990	broad.mit.edu	37	2	99443770	99443770	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99443770delT	uc002szf.1	-							NM_207362	NP_997245			hypothetical protein LOC343990												0																		---	---	---	---
LONRF2	164832	broad.mit.edu	37	2	100916394	100916394	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:100916394delA	uc002tal.3	-						LONRF2_uc010yvs.1_Intron	NM_198461	NP_940863			LON peptidase N-terminal domain and ring finger						proteolysis		ATP-dependent peptidase activity|zinc ion binding			large_intestine(1)|skin(1)	2																		---	---	---	---
TMEM182	130827	broad.mit.edu	37	2	103378582	103378584	+	5'UTR	DEL	TTT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103378582_103378584delTTT	uc010fjb.2	+	1					TMEM182_uc002tcc.3_Intron|TMEM182_uc002tcd.3_Intron	NM_144632	NP_653233			transmembrane protein 182 precursor							integral to membrane					0																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	106105790	106105791	+	IGR	DEL	GA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106105790_106105791delGA								FHL2 (50560 upstream) : NCK2 (255563 downstream)																																			---	---	---	---
RGPD3	653489	broad.mit.edu	37	2	107021702	107021702	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:107021702delA	uc010ywi.1	-							NM_001144013	NP_001137485			RANBP2-like and GRIP domain containing 3						intracellular transport		binding			ovary(1)	1																		---	---	---	---
ZC3H6	376940	broad.mit.edu	37	2	113067706	113067707	+	Frame_Shift_Ins	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113067706_113067707insA	uc002thq.1	+	4	975_976	c.581_582insA	c.(580-582)GGAfs	p.G194fs		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	zinc finger CCCH-type domain containing 6	194							nucleic acid binding|zinc ion binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
CBWD2	150472	broad.mit.edu	37	2	114228539	114228539	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:114228539delT	uc002tju.2	+						CBWD2_uc002tjv.2_Intron|CBWD2_uc010fkv.2_Intron	NM_172003	NP_742000			COBW domain-containing protein 2								ATP binding|protein binding				0																		---	---	---	---
EPB41L5	57669	broad.mit.edu	37	2	120889210	120889211	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120889210_120889211delAG	uc002tmg.2	+	18	1644_1645	c.1518_1519delAG	c.(1516-1521)TCAGAGfs	p.S506fs	EPB41L5_uc010fll.2_Frame_Shift_Del_p.S506fs|EPB41L5_uc010flm.2_Frame_Shift_Del_p.S310fs	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	506_507						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			ovary(1)	1																		---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128471001	128471001	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128471001delT	uc002tpg.1	-							NM_018383	NP_060853			WD repeat domain 33 isoform 1						postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)														---	---	---	---
AMMECR1L	83607	broad.mit.edu	37	2	128628936	128628936	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128628936delA	uc002tpl.2	-						AMMECR1L_uc002tpm.2_Intron	NM_031445	NP_113633			AMME chromosomal region gene 1-like											central_nervous_system(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)														---	---	---	---
Unknown	0	broad.mit.edu	37	2	128824754	128824754	+	IGR	DEL	A	-	-	rs113610724		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128824754delA								SAP130 (39121 upstream) : UGGT1 (24000 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	2	133034857	133034858	+	IGR	INS	-	AAGA	AAGA			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133034857_133034858insAAGA								NCRNA00164 (19315 upstream) : GPR39 (139289 downstream)																																			---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133489260	133489260	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133489260delT	uc002ttp.2	-						NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246			Nck-associated protein 5 isoform 1								protein binding				0																		---	---	---	---
ZRANB3	84083	broad.mit.edu	37	2	136023068	136023068	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136023068delA	uc002tum.2	-						ZRANB3_uc002tuk.2_Intron|ZRANB3_uc002tul.2_Intron	NM_032143	NP_115519			zinc finger, RAN-binding domain containing 3							intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.135)														---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138033617	138033617	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:138033617delT	uc002tva.1	+						THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)														---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141208249	141208249	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141208249delA	uc002tvj.1	-							NM_018557	NP_061027			low density lipoprotein-related protein 1B						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)											TSP Lung(27;0.18)			---	---	---	---
EPC2	26122	broad.mit.edu	37	2	149542636	149542636	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149542636delT	uc010zbt.1	+							NM_015630	NP_056445			enhancer of polycomb homolog 2						chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)|breast(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0516)														---	---	---	---
RND3	390	broad.mit.edu	37	2	151343672	151343674	+	Intron	DEL	TTC	-	-	rs71338157		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:151343672_151343674delTTC	uc002txe.2	-						RND3_uc002txf.2_Intron|RND3_uc002txg.2_Intron|RND3_uc010zbv.1_Intron|RND3_uc010zbw.1_5'Flank	NM_005168	NP_005159			ras homolog gene family, member E precursor						actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			lung(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.106)														---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152318746	152318746	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152318746delT	uc002txm.2	+						RIF1_uc002txl.2_Intron|RIF1_uc002txn.2_Intron|RIF1_uc002txo.2_Intron|RIF1_uc002txp.2_5'Flank	NM_018151	NP_060621			RAP1 interacting factor 1						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1)	15				BRCA - Breast invasive adenocarcinoma(221;0.0429)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152346394	152346394	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152346394delA	uc010fnx.2	-						NEB_uc002txr.2_Intron|RIF1_uc002txp.2_Intron|NEB_uc010zbz.1_Intron|NEB_uc002txq.2_Intron|NEB_uc010zca.1_Intron|NEB_uc010zcb.1_Intron	NM_004543	NP_004534			nebulin isoform 3						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152473987	152473988	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152473987_152473988delAA	uc010fnx.2	-							NM_004543	NP_004534			nebulin isoform 3						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152507460	152507460	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152507460delT	uc010fnx.2	-							NM_004543	NP_004534			nebulin isoform 3						muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
CACNB4	785	broad.mit.edu	37	2	152709898	152709898	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152709898delA	uc002tya.2	-						CACNB4_uc002txy.2_Intron|CACNB4_uc002txz.2_Intron|CACNB4_uc010fnz.2_Intron	NM_000726	NP_000717			calcium channel, voltage-dependent, beta 4						axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)													---	---	---	---
PRPF40A	55660	broad.mit.edu	37	2	153512706	153512706	+	3'UTR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:153512706delT	uc002tyh.3	-	26					PRPF40A_uc002tyg.3_3'UTR	NM_017892	NP_060362			formin binding protein 3						mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0																		---	---	---	---
PRPF40A	55660	broad.mit.edu	37	2	153535752	153535752	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:153535752delA	uc002tyi.2	-						PRPF40A_uc002tyh.3_Intron|PRPF40A_uc010zcd.1_Intron|PRPF40A_uc002tyj.2_Intron|PRPF40A_uc002tyl.1_Intron	NM_017892	NP_060362			formin binding protein 3						mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0																		---	---	---	---
CCDC148	130940	broad.mit.edu	37	2	159195423	159195423	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:159195423delA	uc002tzq.2	-						CCDC148_uc002tzr.2_Intron|CCDC148_uc010foh.2_Intron|CCDC148_uc010foi.1_Intron|CCDC148_uc010foj.1_Intron|CCDC148_uc010fok.1_Intron|CCDC148_uc002tzs.1_Intron	NM_138803	NP_620158			coiled-coil domain containing 148											ovary(2)	2																		---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160885499	160885499	+	Intron	DEL	A	-	-	rs80051025		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160885499delA	uc002ube.1	-						PLA2R1_uc010zcp.1_Intron|PLA2R1_uc002ubf.2_Intron	NM_007366	NP_031392			phospholipase A2 receptor 1 isoform 1 precursor						endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding			skin(2)|ovary(1)	3																		---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467489	164467489	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:164467489delG	uc002uck.1	-	3	1164	c.853delC	c.(853-855)CTAfs	p.L285fs		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	285	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4																		---	---	---	---
CSRNP3	80034	broad.mit.edu	37	2	166535340	166535340	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166535340delA	uc002udf.2	+	7	1211	c.835delA	c.(835-837)AAAfs	p.K279fs	CSRNP3_uc002udg.2_Frame_Shift_Del_p.K279fs	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	279					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|large_intestine(1)|skin(1)	5																		---	---	---	---
TTC21B	79809	broad.mit.edu	37	2	166747308	166747308	+	Intron	DEL	A	-	-	rs117386542	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166747308delA	uc002udk.2	-						TTC21B_uc002udj.1_Intron	NM_024753	NP_079029			tetratricopeptide repeat domain 21B							cilium axoneme|cytoplasm|cytoskeleton	binding			ovary(2)|pancreas(2)|breast(1)	5																		---	---	---	---
METTL8	79828	broad.mit.edu	37	2	172217029	172217029	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:172217029delA	uc010zdo.1	-						METTL8_uc002ugu.3_Intron|METTL8_uc002ugv.3_Intron|METTL8_uc002ugt.3_Intron|METTL8_uc002ugs.3_Intron|METTL8_uc010zdp.1_Intron	NM_024770	NP_079046			methyltransferase like 8								methyltransferase activity			ovary(1)	1																		---	---	---	---
CDCA7	83879	broad.mit.edu	37	2	174231277	174231277	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:174231277delT	uc002uid.1	+						CDCA7_uc002uic.1_Intron|CDCA7_uc010zej.1_Intron|CDCA7_uc010zek.1_Intron	NM_145810	NP_665809			cell division cycle associated 7 isoform 2						regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.116)															---	---	---	---
AGPS	8540	broad.mit.edu	37	2	178301396	178301396	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178301396delA	uc002ull.2	+						AGPS_uc010zfb.1_Intron	NM_003659	NP_003650			alkyldihydroxyacetone phosphate synthase						ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			ovary(2)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)															---	---	---	---
SESTD1	91404	broad.mit.edu	37	2	179988933	179988933	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179988933delA	uc002uni.3	-						SESTD1_uc002unh.3_Intron	NM_178123	NP_835224			SEC14 and spectrin domains 1						regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---
SESTD1	91404	broad.mit.edu	37	2	179989383	179989383	+	Intron	DEL	T	-	-	rs77134645		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179989383delT	uc002uni.3	-						SESTD1_uc002unh.3_5'Flank	NM_178123	NP_835224			SEC14 and spectrin domains 1						regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)															---	---	---	---
NUP35	129401	broad.mit.edu	37	2	184024399	184024399	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:184024399delA	uc002upf.2	+						NUP35_uc010zfs.1_Intron|NUP35_uc010zft.1_Intron|NUP35_uc002upg.2_Intron	NM_138285	NP_612142			nucleoporin 35kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane					0																		---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187502888	187502891	+	Intron	DEL	TTGT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:187502888_187502891delTTGT	uc002upq.2	+						ITGAV_uc010frs.2_Intron|ITGAV_uc010zfv.1_Intron	NM_002210	NP_002201			integrin alpha-V isoform 1 precursor						angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			ovary(2)|kidney(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)														---	---	---	---
GULP1	51454	broad.mit.edu	37	2	189393930	189393930	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189393930delT	uc010fru.2	+						GULP1_uc002uqc.3_Intron|GULP1_uc002uqd.2_Intron|GULP1_uc010zfw.1_Intron|GULP1_uc002uqe.2_Intron|GULP1_uc002uqf.2_Intron|GULP1_uc002uqg.2_Intron	NM_016315	NP_057399			GULP, engulfment adaptor PTB domain containing						apoptosis|lipid transport|phagocytosis, engulfment	cytoplasm|intracellular membrane-bounded organelle	signal transducer activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)															---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189943836	189943836	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189943836delA	uc002uqk.2	-						COL5A2_uc010frx.2_Intron	NM_000393	NP_000384			alpha 2 type V collagen preproprotein						axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)															---	---	---	---
WDR75	84128	broad.mit.edu	37	2	190313093	190313093	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190313093delT	uc002uql.1	+						WDR75_uc002uqm.1_Intron|WDR75_uc002uqn.1_Intron	NM_032168	NP_115544			WD repeat domain 75							nucleolus				ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)															---	---	---	---
MYO1B	4430	broad.mit.edu	37	2	192278713	192278713	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192278713delT	uc010fsg.2	+						MYO1B_uc002usq.2_Intron|MYO1B_uc002usr.2_Intron|MYO1B_uc002usu.2_Intron|MYO1B_uc002usv.2_Intron	NM_001130158	NP_001123630			myosin IB isoform 1							myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)															---	---	---	---
MYO1B	4430	broad.mit.edu	37	2	192279225	192279225	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:192279225delT	uc010fsg.2	+						MYO1B_uc002usq.2_Intron|MYO1B_uc002usr.2_Intron|MYO1B_uc002usu.2_Intron|MYO1B_uc002usv.2_Intron	NM_001130158	NP_001123630			myosin IB isoform 1							myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(5)|large_intestine(2)|ovary(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)															---	---	---	---
SLC39A10	57181	broad.mit.edu	37	2	196545516	196545516	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196545516delT	uc002utg.3	+	2	964	c.750delT	c.(748-750)GGTfs	p.G250fs	SLC39A10_uc002uth.3_Frame_Shift_Del_p.G250fs|SLC39A10_uc010zgp.1_Intron	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter),	250					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			pancreas(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.221)															---	---	---	---
PGAP1	80055	broad.mit.edu	37	2	197781011	197781012	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197781011_197781012insA	uc002utw.2	-						PGAP1_uc002utx.2_Intron|PGAP1_uc002uty.1_Intron|PGAP1_uc010zgv.1_Intron|PGAP1_uc010fsj.2_Intron	NM_024989	NP_079265			GPI deacylase						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
SF3B1	23451	broad.mit.edu	37	2	198299634	198299635	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198299634_198299635insA	uc002uue.2	-						SF3B1_uc010fsk.1_Intron|SF3B1_uc002uuf.2_Intron|SF3B1_uc002uug.2_Intron	NM_012433	NP_036565			splicing factor 3b, subunit 1 isoform 1						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)															---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200173297	200173298	+	Intron	INS	-	CA	CA			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:200173297_200173298insCA	uc002uuy.1	-						SATB2_uc010fsq.1_Intron|SATB2_uc002uuz.1_Intron|SATB2_uc002uva.1_Intron	NM_015265	NP_056080			SATB homeobox 2							cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
C2orf60	129450	broad.mit.edu	37	2	200804960	200804960	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:200804960delA	uc002uvi.3	-						C2orf60_uc002uvj.3_Intron|C2orf60_uc002uvk.3_Intron|C2orf60_uc010fss.2_Intron	NM_001039693	NP_001034782			hypothetical protein LOC129450						wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding				0																		---	---	---	---
NDUFB3	4709	broad.mit.edu	37	2	201943860	201943861	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201943860_201943861insT	uc002uwx.3	+							NM_002491	NP_002482			NADH dehydrogenase (ubiquinone) 1 beta						mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity				0					NADH(DB00157)													---	---	---	---
NOP58	51602	broad.mit.edu	37	2	203165102	203165102	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203165102delT	uc002uzb.2	+							NM_015934	NP_057018			NOP58 ribonucleoprotein homolog						cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding				0																		---	---	---	---
ICA1L	130026	broad.mit.edu	37	2	203684334	203684334	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203684334delA	uc002uzh.1	-						ICA1L_uc002uzi.1_Intron|ICA1L_uc002uzj.2_3'UTR	NM_138468	NP_612477			islet cell autoantigen 1,69kDa-like isoform 1												0																		---	---	---	---
NDUFS1	4719	broad.mit.edu	37	2	206988816	206988816	+	3'UTR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206988816delT	uc002vbe.2	-	19					NDUFS1_uc010ziq.1_3'UTR|NDUFS1_uc010zir.1_3'UTR|NDUFS1_uc010zis.1_3'UTR|NDUFS1_uc010zit.1_3'UTR|NDUFS1_uc010ziu.1_3'UTR	NM_005006	NP_004997			NADH dehydrogenase (ubiquinone) Fe-S protein 1,						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)													---	---	---	---
NDUFS1	4719	broad.mit.edu	37	2	206994674	206994674	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206994674delA	uc002vbe.2	-						NDUFS1_uc010ziq.1_Intron|NDUFS1_uc010zir.1_Intron|NDUFS1_uc010zis.1_Intron|NDUFS1_uc010zit.1_Intron|NDUFS1_uc010ziu.1_Intron	NM_005006	NP_004997			NADH dehydrogenase (ubiquinone) Fe-S protein 1,						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			ovary(1)	1					NADH(DB00157)													---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207174869	207174869	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:207174869delA	uc002vbp.2	+	5	5867	c.5617delA	c.(5617-5619)AAAfs	p.K1873fs		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1873							nucleic acid binding|zinc ion binding			ovary(3)	3																		---	---	---	---
CREB1	1385	broad.mit.edu	37	2	208442484	208442484	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:208442484delT	uc002vcc.2	+						CREB1_uc002vcd.2_Intron	NM_134442	NP_604391			cAMP responsive element binding protein 1						activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(42)	soft_tissue(42)|breast(1)|central_nervous_system(1)	44				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)			T	EWSR1	clear cell sarcoma|angiomatoid fibrous histiocytoma								---	---	---	---
C2orf67	151050	broad.mit.edu	37	2	210908559	210908559	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210908559delA	uc002vds.2	-						C2orf67_uc002vdt.2_Intron|C2orf67_uc002vdw.2_Intron|uc002vdu.1_Intron|C2orf67_uc002vdv.2_Intron|C2orf67_uc002vdx.1_3'UTR	NM_152519	NP_689732			hypothetical protein LOC151050											ovary(3)	3		Renal(323;0.202)		Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696)														---	---	---	---
LANCL1	10314	broad.mit.edu	37	2	211301298	211301298	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211301298delA	uc010zjh.1	-						LANCL1_uc002ved.2_Intron|LANCL1_uc010fuq.2_Intron	NM_001136574	NP_001130046			lanthionine synthetase C-like protein 1							cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding				0				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)														---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219895325	219895326	+	Intron	INS	-	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219895325_219895326insG	uc002vjl.1	-						CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Intron|CCDC108_uc010zkq.1_Intron	NM_194302	NP_919278			coiled-coil domain containing 108 isoform 1							integral to membrane	structural molecule activity			ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
EPHA4	2043	broad.mit.edu	37	2	222436784	222436784	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:222436784delC	uc002vmq.2	-						EPHA4_uc002vmr.2_Intron|EPHA4_uc010zlm.1_Intron|EPHA4_uc010zln.1_Intron|uc002vms.1_5'Flank	NM_004438	NP_004429			ephrin receptor EphA4 precursor							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)														---	---	---	---
PAX3	5077	broad.mit.edu	37	2	223066912	223066912	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223066912delA	uc010fwo.2	-						PAX3_uc002vmt.1_Intron|PAX3_uc002vmy.1_Intron|PAX3_uc002vmv.1_Intron|PAX3_uc002vmw.1_Intron|PAX3_uc002vmx.1_Intron	NM_181457	NP_852122			paired box 3 isoform PAX3						apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)				T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225666476	225666476	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225666476delT	uc010fwz.1	-						DOCK10_uc002vob.2_Intron|DOCK10_uc002voa.2_Intron|DOCK10_uc002voc.2_Intron	NM_014689	NP_055504			dedicator of cytokinesis 10								GTP binding			ovary(2)	2		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)														---	---	---	---
COL4A4	1286	broad.mit.edu	37	2	227907996	227907997	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:227907996_227907997insT	uc010zlt.1	-							NM_000092	NP_000083			alpha 4 type IV collagen precursor						axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1)	11		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)														---	---	---	---
COL4A3	1285	broad.mit.edu	37	2	228137810	228137810	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228137810delC	uc002vom.1	+	26	2066	c.1904delC	c.(1903-1905)GCCfs	p.A635fs	COL4A3_uc002von.1_Frame_Shift_Del_p.A635fs|COL4A3_uc002voo.1_Frame_Shift_Del_p.A635fs|COL4A3_uc002vop.1_Frame_Shift_Del_p.A635fs|uc002voq.1_Intron|uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	alpha 3 type IV collagen isoform 1 precursor	635	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			skin(2)|ovary(1)	3		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)														---	---	---	---
AGFG1	3267	broad.mit.edu	37	2	228388444	228388444	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228388444delT	uc002vpc.2	+						AGFG1_uc002vpd.2_Intron|AGFG1_uc002vpe.2_Intron|AGFG1_uc002vpf.2_Intron	NM_004504	NP_004495			HIV-1 Rev binding protein isoform 2						cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
WDR69	164781	broad.mit.edu	37	2	228762862	228762862	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228762862delT	uc002vpn.1	+						WDR69_uc010zlw.1_Intron|WDR69_uc002vpo.1_Intron	NM_178821	NP_849143			WD repeat domain 69											breast(1)	1		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)														---	---	---	---
HJURP	55355	broad.mit.edu	37	2	234761358	234761358	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234761358delA	uc002vvg.2	-						HJURP_uc010znd.1_Intron|HJURP_uc010zne.1_Intron	NM_018410	NP_060880			Holliday junction recognition protein						cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			ovary(1)	1		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)														---	---	---	---
TRPM8	79054	broad.mit.edu	37	2	234878165	234878165	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234878165delT	uc002vvh.2	+						TRPM8_uc010fyj.2_Intron	NM_024080	NP_076985			transient receptor potential cation channel,							integral to membrane				skin(4)	4		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)													---	---	---	---
MLPH	79083	broad.mit.edu	37	2	238443321	238443322	+	Intron	INS	-	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:238443321_238443322insC	uc002vwt.2	+						MLPH_uc002vws.2_Intron|MLPH_uc010fyt.1_Intron|MLPH_uc002vwu.2_Intron|MLPH_uc002vwv.2_Intron|MLPH_uc002vww.2_Intron|MLPH_uc002vwx.2_Intron|MLPH_uc010fyu.2_Intron	NM_024101	NP_077006			melanophilin isoform 1								metal ion binding			ovary(1)	1		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)														---	---	---	---
ILKAP	80895	broad.mit.edu	37	2	239079047	239079047	+	3'UTR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:239079047delA	uc002vxv.2	-	12					ILKAP_uc010zns.1_3'UTR|ILKAP_uc002vxw.2_3'UTR	NM_030768	NP_110395			integrin-linked kinase-associated protein							cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			ovary(3)	3		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)														---	---	---	---
PER2	8864	broad.mit.edu	37	2	239168597	239168597	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:239168597delT	uc002vyc.2	-						PER2_uc010znv.1_Intron	NM_022817	NP_073728			period 2						circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			upper_aerodigestive_tract(1)|breast(1)	2		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)														---	---	---	---
ING5	84289	broad.mit.edu	37	2	242657739	242657742	+	Intron	DEL	CCTC	-	-	rs112407089		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242657739_242657742delCCTC	uc002wcd.2	+						ING5_uc002wcc.1_Intron	NM_032329	NP_115705			inhibitor of growth family, member 5						DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1445212	1445212	+	3'UTR	DEL	A	-	-	rs74788015		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1445212delA	uc003boz.2	+	23					CNTN6_uc011asj.1_3'UTR|CNTN6_uc003bpa.2_3'UTR	NM_014461	NP_055276			contactin 6 precursor						axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
ARL8B	55207	broad.mit.edu	37	3	5215858	5215858	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:5215858delT	uc003bqg.2	+						ARL8B_uc011asx.1_Intron|ARL8B_uc011asy.1_Intron	NM_018184	NP_060654			ADP-ribosylation factor-like 10C						cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity				0				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)														---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9476603	9476603	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9476603delA	uc003brt.2	+						SETD5_uc003brs.1_Intron|SETD5_uc003bru.2_Intron|SETD5_uc003brv.2_Intron	NM_001080517	NP_001073986			SET domain containing 5											ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)														---	---	---	---
FANCD2	2177	broad.mit.edu	37	3	10119557	10119558	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10119557_10119558delAA	uc003buw.2	+						FANCD2_uc003bux.1_Intron|FANCD2_uc003buy.1_Intron|FANCD2_uc010hcw.1_Intron	NM_033084	NP_149075			Fanconi anemia complementation group D2 isoform						DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding			central_nervous_system(2)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.148)				D|Mis|N|F			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13367111	13367111	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:13367111delA	uc003bxv.1	-							NM_024923	NP_079199			nucleoporin 210 precursor						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1)	11	all_neural(104;0.187)																	---	---	---	---
Unknown	0	broad.mit.edu	37	3	14415403	14415404	+	IGR	DEL	TC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14415403_14415404delTC								LSM3 (175567 upstream) : SLC6A6 (28702 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	3	20255215	20255218	+	IGR	DEL	CTTC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:20255215_20255218delCTTC								SGOL1 (27532 upstream) : None (None downstream)																																			---	---	---	---
LOC152024	152024	broad.mit.edu	37	3	24138196	24138196	+	RNA	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:24138196delT	uc003ccu.3	-	4		c.2552delA								Homo sapiens hypothetical protein LOC152024, mRNA (cDNA clone IMAGE:4829078).												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	3	27047737	27047738	+	IGR	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:27047737_27047738delTT								LRRC3B (295474 upstream) : NEK10 (104657 downstream)																																			---	---	---	---
OSBPL10	114884	broad.mit.edu	37	3	32022334	32022335	+	Intron	DEL	CA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32022334_32022335delCA	uc003cev.2	-						OSBPL10_uc011axf.1_Intron|ZNF860_uc011axg.1_5'Flank	NM_017784	NP_060254			oxysterol-binding protein-like protein 10						lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)														---	---	---	---
DYNC1LI1	51143	broad.mit.edu	37	3	32586236	32586237	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:32586236_32586237delAA	uc003cfb.3	-						DYNC1LI1_uc011axh.1_Intron	NM_016141	NP_057225			dynein, cytoplasmic 1, light intermediate chain						cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			ovary(1)	1																		---	---	---	---
ARPP21	10777	broad.mit.edu	37	3	35729112	35729113	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:35729112_35729113insA	uc003cgb.2	+						ARPP21_uc003cga.2_Intron|ARPP21_uc011axy.1_Intron|ARPP21_uc003cgf.2_5'Flank	NM_016300	NP_057384			cyclic AMP-regulated phosphoprotein, 21 kD							cytoplasm	nucleic acid binding			ovary(2)|skin(1)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	3	40418595	40418595	+	IGR	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:40418595delG								EIF1B (64682 upstream) : ENTPD3 (10078 downstream)																																			---	---	---	---
ZNF167	55888	broad.mit.edu	37	3	44606821	44606821	+	Intron	DEL	T	-	-	rs79512510		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44606821delT	uc010hin.2	+						ZNF167_uc003cnh.2_Intron|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Intron|ZNF167_uc003cnk.2_Intron	NM_018651	NP_061121			zinc finger protein 167 isoform 1						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)														---	---	---	---
ZNF197	10168	broad.mit.edu	37	3	44672900	44672900	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44672900delT	uc003cnm.2	+						ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922			zinc finger protein 197 isoform 1						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)														---	---	---	---
KIF15	56992	broad.mit.edu	37	3	44887009	44887009	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44887009delA	uc003cnx.3	+						KIF15_uc010hiq.2_Intron|KIF15_uc010hir.2_Intron	NM_020242	NP_064627			kinesin family member 15						blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)														---	---	---	---
LARS2	23395	broad.mit.edu	37	3	45561625	45561625	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:45561625delT	uc003cop.1	+						LARS2_uc010hit.1_Intron	NM_015340	NP_056155			leucyl-tRNA synthetase 2, mitochondrial						leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)													---	---	---	---
SACM1L	22908	broad.mit.edu	37	3	45781328	45781328	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:45781328delT	uc003cos.2	+						SACM1L_uc011bag.1_Intron|SACM1L_uc011bah.1_Intron|SACM1L_uc003cot.2_Intron	NM_014016	NP_054735			suppressor of actin 1							Golgi apparatus				ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)														---	---	---	---
MAP4	4134	broad.mit.edu	37	3	48040027	48040027	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48040027delA	uc003csb.2	-						MAP4_uc003csc.3_Intron|MAP4_uc011bbf.1_Intron|MAP4_uc003csf.3_Intron|MAP4_uc003csg.2_Intron	NM_002375	NP_002366			microtubule-associated protein 4 isoform 1						negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(2)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)														---	---	---	---
RBM5	10181	broad.mit.edu	37	3	50138143	50138144	+	Intron	INS	-	A	A	rs75700356		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50138143_50138144insA	uc003cyg.2	+						RBM5_uc003cyf.2_3'UTR|RBM5_uc011bdj.1_Intron|RBM5_uc011bdk.1_Intron	NM_005778	NP_005769			RNA binding motif protein 5						apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
SLC38A3	10991	broad.mit.edu	37	3	50255683	50255683	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50255683delC	uc003cyn.3	+						SLC38A3_uc011bdl.1_Intron|SLC38A3_uc011bdm.1_Intron	NM_006841	NP_006832			solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)													---	---	---	---
ZMYND10	51364	broad.mit.edu	37	3	50379133	50379133	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50379133delG	uc003dag.1	-						RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Intron	NM_015896	NP_056980			zinc finger, MYND domain-containing 10							cytoplasm	protein binding|zinc ion binding			lung(4)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)											TSP Lung(30;0.18)			---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51417604	51417604	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51417604delC	uc011bds.1	+	52	5572	c.5549delC	c.(5548-5550)ACCfs	p.T1850fs		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1850						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)														---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51472145	51472145	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51472145delT	uc003dbe.1	-							NM_014703	NP_055518			HIV-1 Vpr binding protein						interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)														---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51504907	51504907	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51504907delA	uc003dbe.1	-						VPRBP_uc003dbg.1_Intron	NM_014703	NP_055518			HIV-1 Vpr binding protein						interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)														---	---	---	---
ALAS1	211	broad.mit.edu	37	3	52236381	52236382	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52236381_52236382insA	uc003dcy.1	+						ALAS1_uc003dcx.1_Intron|ALAS1_uc003dcz.1_Intron|ALAS1_uc011bec.1_Intron	NM_000688	NP_000679			5-aminolevulinate synthase 1 precursor						heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(2)|upper_aerodigestive_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)													---	---	---	---
ITIH4	3700	broad.mit.edu	37	3	52852470	52852470	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52852470delG	uc003dfz.2	-						ITIH4_uc011bel.1_Intron|ITIH4_uc003dfy.2_Intron|ITIH4_uc011bem.1_Intron|ITIH4_uc011ben.1_Intron	NM_002218	NP_002209			inter-alpha (globulin) inhibitor H4						acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)|central_nervous_system(1)	3				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)														---	---	---	---
CACNA2D3	55799	broad.mit.edu	37	3	55004031	55004031	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:55004031delT	uc003dhf.2	+						CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_018398	NP_060868			calcium channel, voltage-dependent, alpha							integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)														---	---	---	---
APPL1	26060	broad.mit.edu	37	3	57293836	57293836	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57293836delA	uc003dio.2	+						APPL1_uc010hnb.2_Intron|APPL1_uc011bey.1_Intron	NM_012096	NP_036228			adaptor protein, phosphotyrosine interaction, PH						apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)														---	---	---	---
FRMD4B	23150	broad.mit.edu	37	3	69336796	69336796	+	Intron	DEL	T	-	-	rs78688753		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:69336796delT	uc003dnv.2	-						FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnx.1_Intron	NM_015123	NP_055938			FERM domain containing 4B							cytoplasm|cytoskeleton	binding			ovary(3)|central_nervous_system(1)	4		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)														---	---	---	---
PPP4R2	151987	broad.mit.edu	37	3	73108177	73108177	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73108177delT	uc003dph.1	+						PPP4R2_uc003dpi.1_Intron|FLJ10213_uc003dpj.2_5'Flank	NM_174907	NP_777567			protein phosphatase 4, regulatory subunit 2						mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			lung(1)	1		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)														---	---	---	---
GBE1	2632	broad.mit.edu	37	3	81695694	81695694	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:81695694delA	uc003dqg.2	-						GBE1_uc011bgm.1_Intron	NM_000158	NP_000149			glucan (1,4-alpha-), branching enzyme 1						glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(3)	3		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)										Glycogen_Storage_Disease_type_IV				---	---	---	---
MINA	84864	broad.mit.edu	37	3	97669754	97669754	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97669754delA	uc003drz.1	-						MINA_uc003dry.1_5'Flank|MINA_uc003dsa.1_Intron|MINA_uc003dsb.1_Intron|MINA_uc003dsc.1_Intron|MINA_uc010hpa.1_Intron	NM_001042533	NP_001035998			MYC induced nuclear antigen isoform a						ribosome biogenesis	cytoplasm|nucleolus				ovary(1)	1																		---	---	---	---
CPOX	1371	broad.mit.edu	37	3	98310016	98310016	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98310016delA	uc003dsx.2	-						CPOX_uc011bgz.1_Intron	NM_000097	NP_000088			coproporphyrinogen oxidase precursor							mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity				0																		---	---	---	---
FILIP1L	11259	broad.mit.edu	37	3	99568705	99568706	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:99568705_99568706insT	uc003dtm.2	-	5	2277_2278	c.1814_1815insA	c.(1813-1815)AACfs	p.N605fs	C3orf26_uc003dtk.1_Intron|C3orf26_uc003dtl.2_Intron|FILIP1L_uc003dto.2_Frame_Shift_Ins_p.N605fs|FILIP1L_uc010hpf.2_Frame_Shift_Ins_p.N181fs|FILIP1L_uc010hpg.2_Frame_Shift_Ins_p.N365fs|FILIP1L_uc003dtn.2_Frame_Shift_Ins_p.N365fs|FILIP1L_uc003dtp.1_Frame_Shift_Ins_p.N365fs	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like isoform 1	605	Potential.					cytoplasm|membrane|myosin complex|nucleus				ovary(1)	1																		---	---	---	---
TOMM70A	9868	broad.mit.edu	37	3	100086754	100086754	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:100086754delT	uc003dtw.2	-							NM_014820	NP_055635			translocase of outer mitochondrial membrane 70						protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			ovary(1)	1																		---	---	---	---
FAM55C	91775	broad.mit.edu	37	3	101520972	101520972	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:101520972delA	uc003dvn.2	+						FAM55C_uc010hpn.2_Intron	NM_145037	NP_659474			hypothetical protein LOC91775 precursor							extracellular region				ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
HHLA2	11148	broad.mit.edu	37	3	108081176	108081176	+	Intron	DEL	T	-	-	rs78277135		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108081176delT	uc003dwy.3	+						HHLA2_uc011bhl.1_Intron|HHLA2_uc010hpu.2_Intron|HHLA2_uc003dwz.2_Intron	NM_007072	NP_009003			HERV-H LTR-associating 2 precursor							integral to membrane				ovary(1)	1																		---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108818455	108818455	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108818455delT	uc003dxl.2	-						MORC1_uc011bhn.1_Intron	NM_014429	NP_055244			MORC family CW-type zinc finger 1						cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			ovary(3)|skin(3)|breast(2)	8																		---	---	---	---
TMPRSS7	344805	broad.mit.edu	37	3	111794490	111794490	+	Intron	DEL	T	-	-	rs112959291		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111794490delT	uc010hqb.2	+						TMPRSS7_uc011bhr.1_Intron	NM_001042575	NP_001036040			transmembrane protease, serine 7						proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			ovary(1)|kidney(1)	2																		---	---	---	---
MIR567	693152	broad.mit.edu	37	3	111831724	111831724	+	RNA	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111831724delA	hsa-mir-567|MI0003573	+			c.77delA			C3orf52_uc003dyq.3_Intron|C3orf52_uc011bhs.1_Intron|C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron																	0																		---	---	---	---
CCDC80	151887	broad.mit.edu	37	3	112358804	112358804	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112358804delA	uc003dzf.2	-						CCDC80_uc011bhv.1_5'Flank|CCDC80_uc003dzg.2_Intron|CCDC80_uc003dzh.1_Intron	NM_199512	NP_955806			steroid-sensitive protein 1 precursor											ovary(2)	2																		---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113371901	113371901	+	3'UTR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113371901delA	uc003eam.2	-	7					KIAA2018_uc003eal.2_3'UTR	NM_001009899	NP_001009899			hypothetical protein LOC205717						regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			skin(2)|ovary(1)	3																		---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113517076	113517076	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113517076delT	uc003eao.2	+						ATP6V1A_uc011bik.1_Intron	NM_001690	NP_001681			ATPase, H+ transporting, lysosomal V1 subunit A						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																		---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118823867	118823867	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:118823867delT	uc003eby.2	-						IGSF11_uc003ebz.2_Intron|IGSF11_uc010hqs.2_Intron	NM_152538	NP_689751			immunoglobulin superfamily, member 11 isoform a						cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity				0																		---	---	---	---
FBXO40	51725	broad.mit.edu	37	3	121341633	121341633	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121341633delG	uc003eeg.2	+	3	1567	c.1357delG	c.(1357-1359)GGGfs	p.G453fs		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	F-box protein 40	453					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)														---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129285313	129285313	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129285313delG	uc003emx.2	-						PLXND1_uc011blb.1_Intron	NM_015103	NP_055918			plexin D1 precursor						axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1																		---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129547382	129547382	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129547382delA	uc003emz.3	-						TMCC1_uc010htg.2_Intron	NM_001017395	NP_001017395			transmembrane and coiled-coil domain family 1							integral to membrane				skin(1)	1																		---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130360601	130360602	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130360601_130360602delAA	uc010htl.2	+						COL6A6_uc003eni.3_Intron	NM_001102608	NP_001096078			collagen type VI alpha 6 precursor						axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---
Unknown	0	broad.mit.edu	37	3	135611923	135611923	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:135611923delA								EPHB1 (632618 upstream) : PPP2R3A (72644 downstream)																																			---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143214309	143214310	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:143214309_143214310insA	uc003evn.2	-							NM_173653	NP_775924			solute carrier family 9 (sodium/hydrogen						regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			ovary(2)|skin(1)	3																		---	---	---	---
PLSCR5	389158	broad.mit.edu	37	3	146309456	146309456	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:146309456delA	uc003ewb.2	-						PLSCR5_uc010hvb.2_Intron|PLSCR5_uc010hvc.2_Intron	NM_001085420	NP_001078889			phospholipid scramblase family, member 5												0																		---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150908389	150908389	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:150908389delT	uc003eyp.2	+						MED12L_uc011bnz.1_Intron|MED12L_uc003eyn.2_Intron|MED12L_uc003eyo.2_Intron	NM_053002	NP_443728			mediator of RNA polymerase II transcription,						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
MLF1	4291	broad.mit.edu	37	3	158317975	158317975	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158317975delA	uc003fcb.2	+						MLF1_uc003fbz.2_Intron|MLF1_uc003fca.2_Intron|MLF1_uc003fbx.2_Intron|MLF1_uc003fcc.2_Intron|MLF1_uc003fby.2_Intron|MLF1_uc010hvx.2_Intron	NM_022443	NP_071888			myeloid leukemia factor 1 isoform 1						cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding				0		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)					T	NPM1	AML								---	---	---	---
GFM1	85476	broad.mit.edu	37	3	158363466	158363467	+	Frame_Shift_Ins	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158363466_158363467insA	uc003fce.2	+	2	237_238	c.130_131insA	c.(130-132)GAAfs	p.E44fs	GFM1_uc003fcd.2_Frame_Shift_Ins_p.E44fs|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_5'Flank	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1 precursor	44					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			ovary(3)|central_nervous_system(1)	4			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)															---	---	---	---
IFT80	57560	broad.mit.edu	37	3	160093679	160093679	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:160093679delA	uc011boy.1	-						IFT80_uc003fda.2_Intron|IFT80_uc003fdb.1_Intron|IFT80_uc003fdd.1_Intron|IFT80_uc003fde.1_Intron	NM_020800	NP_065851			WD repeat domain 56							cilium axoneme|microtubule basal body				ovary(1)	1			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167023670	167023670	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167023670delT	uc003fep.2	-	17	1809	c.1486delA	c.(1486-1488)ATTfs	p.I496fs	ZBBX_uc011bpc.1_Frame_Shift_Del_p.I496fs|ZBBX_uc003feq.2_Frame_Shift_Del_p.I467fs	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	496						intracellular	zinc ion binding			ovary(2)	2																		---	---	---	---
SLC2A2	6514	broad.mit.edu	37	3	170736131	170736131	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170736131delC	uc003fhe.1	-						SLC2A2_uc003fhf.1_Intron|SLC2A2_uc011bpu.1_Intron	NM_000340	NP_000331			solute carrier family 2 (facilitated glucose						carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			ovary(1)|central_nervous_system(1)	2	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)															---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184567675	184567676	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184567675_184567676insA	uc003fpb.1	+						VPS8_uc010hyd.1_Intron	NM_015303	NP_056118			vacuolar protein sorting 8 homolog isoform b								zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)															---	---	---	---
VPS8	23355	broad.mit.edu	37	3	184742112	184742112	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184742112delT	uc003fpb.1	+						VPS8_uc010hyd.1_Intron|VPS8_uc010hye.1_Intron	NM_015303	NP_056118			vacuolar protein sorting 8 homolog isoform b								zinc ion binding			ovary(1)	1	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)															---	---	---	---
TRA2B	6434	broad.mit.edu	37	3	185638984	185638984	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:185638984delA	uc003fpv.2	-						TRA2B_uc003fpt.2_Intron|TRA2B_uc003fpu.2_Intron|TRA2B_uc010hym.2_Intron|TRA2B_uc003fpw.2_Intron	NM_004593	NP_004584			splicing factor, arginine/serine-rich 10						nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			ovary(2)	2																		---	---	---	---
TBCCD1	55171	broad.mit.edu	37	3	186268857	186268857	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186268857delT	uc003fqg.2	-						TBCCD1_uc011bry.1_Intron|TBCCD1_uc003fqh.2_Intron	NM_018138	NP_060608			TBCC domain containing 1						cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			large_intestine(1)|ovary(1)	2	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)														---	---	---	---
LEPREL1	55214	broad.mit.edu	37	3	189700671	189700671	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:189700671delT	uc011bsk.1	-						LEPREL1_uc003fsg.2_Intron	NM_018192	NP_060662			leprecan-like 1 isoform a						collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	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 3-dioxygenase activity			breast(3)|ovary(1)	4	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
Unknown	0	broad.mit.edu	37	3	190548831	190548831	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:190548831delA								IL1RAP (172988 upstream) : LOC647309 (21695 downstream)																																			---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193017093	193017093	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193017093delT	uc011bsq.1	-							NM_198505	NP_940907			ATPase type 13A5						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)														---	---	---	---
C3orf21	152002	broad.mit.edu	37	3	194947599	194947599	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194947599delA	uc003fum.3	-						C3orf21_uc011bsw.1_Intron	NM_152531	NP_689744			hypothetical protein LOC152002							integral to membrane	transferase activity, transferring glycosyl groups				0	all_cancers(143;9.33e-09)|Ovarian(172;0.0634)		Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146)	GBM - Glioblastoma multiforme(46;1.36e-05)														---	---	---	---
TFRC	7037	broad.mit.edu	37	3	195798774	195798775	+	Intron	INS	-	A	A	rs80325185		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195798774_195798775insA	uc003fvz.3	-						TFRC_uc003fwa.3_Intron|TFRC_uc010hzy.2_Intron|TFRC_uc011btr.1_Intron	NM_003234	NP_003225			transferrin receptor						cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			ovary(3)	3	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)				T	BCL6	NHL								---	---	---	---
IQCG	84223	broad.mit.edu	37	3	197639506	197639506	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197639506delA	uc003fyo.2	-						IQCG_uc003fyn.2_Intron|IQCG_uc003fyp.2_Intron|IQCG_uc003fym.2_Intron	NM_001134435	NP_001127907			IQ motif containing G												0	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)														---	---	---	---
NOP14	8602	broad.mit.edu	37	4	2940407	2940408	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2940407_2940408insT	uc003ggj.1	-						C4orf10_uc003ggd.1_Intron|C4orf10_uc003gge.1_Intron|C4orf10_uc003ggg.1_Intron|C4orf10_uc003ggh.2_Intron|C4orf10_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggk.3_Intron|NOP14_uc003ggl.2_3'UTR	NM_003703	NP_003694			probable nucleolar complex protein 14						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			pancreas(1)	1																		---	---	---	---
DOK7	285489	broad.mit.edu	37	4	3495150	3495150	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3495150delC	uc003ghd.2	+	7	1507	c.1437delC	c.(1435-1437)GGCfs	p.G479fs	DOK7_uc003ghe.2_Frame_Shift_Del_p.G341fs|DOK7_uc003ghf.2_3'UTR|DOK7_uc003ghg.1_Frame_Shift_Del_p.G169fs	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	downstream of tyrosine kinase 7 isoform 1	479					positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)														---	---	---	---
HTRA3	94031	broad.mit.edu	37	4	8290686	8290687	+	Intron	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:8290686_8290687delTT	uc003gla.2	+						HTRA3_uc003gkz.2_Intron	NM_053044	NP_444272			HtrA serine peptidase 3 precursor						proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---
CLNK	116449	broad.mit.edu	37	4	10543504	10543504	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:10543504delT	uc003gmo.3	-						CLNK_uc003gmp.2_Intron	NM_052964	NP_443196			mast cell immunoreceptor signal transducer						immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			ovary(1)	1																		---	---	---	---
RAB28	9364	broad.mit.edu	37	4	13485808	13485808	+	5'UTR	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13485808delG	uc003gmu.2	-	1					RAB28_uc003gmt.2_5'UTR|RAB28_uc011bwz.1_5'UTR|RAB28_uc003gmv.2_RNA	NM_001017979	NP_001017979			RAB28, member RAS oncogene family isoform 1						small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			ovary(1)|skin(1)	2																		---	---	---	---
BOD1L	259282	broad.mit.edu	37	4	13588011	13588011	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13588011delA	uc003gmz.1	-							NM_148894	NP_683692			biorientation of chromosomes in cell division								DNA binding			ovary(5)|breast(1)	6																		---	---	---	---
PACRGL	133015	broad.mit.edu	37	4	20706272	20706272	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20706272delT	uc010iek.2	+						PACRGL_uc003gpu.2_Intron|PACRGL_uc010iei.1_Intron|PACRGL_uc003gpz.2_Intron|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpv.2_Intron|PACRGL_uc003gpw.2_Intron|PACRGL_uc010iej.1_Intron|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron	NM_145048	NP_659485			PARK2 co-regulated-like isoform 1								binding				0																		---	---	---	---
PACRGL	133015	broad.mit.edu	37	4	20728721	20728721	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20728721delA	uc010iek.2	+						PACRGL_uc003gpu.2_Intron|PACRGL_uc003gpz.2_Intron|PACRGL_uc011bxm.1_Intron|PACRGL_uc003gqa.2_Intron|PACRGL_uc003gpx.3_Intron|PACRGL_uc003gpv.2_Intron|PACRGL_uc003gpw.2_Intron|PACRGL_uc011bxn.1_Intron|PACRGL_uc003gpy.2_Intron	NM_145048	NP_659485			PARK2 co-regulated-like isoform 1								binding				0																		---	---	---	---
SLC34A2	10568	broad.mit.edu	37	4	25664605	25664605	+	Intron	DEL	T	-	-	rs34583336		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:25664605delT	uc003grr.2	+						SLC34A2_uc003grs.2_Intron|SLC34A2_uc010iev.2_Intron	NM_006424	NP_006415			solute carrier family 34 (sodium phosphate),						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)																---	---	---	---
WDR19	57728	broad.mit.edu	37	4	39245702	39245702	+	Intron	DEL	A	-	-	rs34311970		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39245702delA	uc003gtv.2	+						WDR19_uc011byi.1_Intron|WDR19_uc003gtw.1_Intron	NM_025132	NP_079408			WD repeat domain 19						cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1																		---	---	---	---
RFC1	5981	broad.mit.edu	37	4	39313233	39313233	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39313233delA	uc003gty.1	-						RFC1_uc003gtx.1_Intron	NM_002913	NP_002904			replication factor C large subunit						DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
RFC1	5981	broad.mit.edu	37	4	39347147	39347147	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39347147delT	uc003gty.1	-						RFC1_uc003gtx.1_Intron|RFC1_uc003gtz.1_Intron	NM_002913	NP_002904			replication factor C large subunit						DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
UGDH	7358	broad.mit.edu	37	4	39505928	39505928	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39505928delA	uc003guk.1	-						UGDH_uc011byp.1_Intron|UGDH_uc003gul.1_Intron	NM_003359	NP_003350			UDP-glucose dehydrogenase						glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4					NADH(DB00157)													---	---	---	---
BEND4	389206	broad.mit.edu	37	4	42127763	42127764	+	Intron	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42127763_42127764delTT	uc003gwn.2	-						BEND4_uc003gwm.2_Intron|BEND4_uc011byy.1_Intron	NM_207406	NP_997289			BEN domain containing 4 isoform a												0																		---	---	---	---
TXK	7294	broad.mit.edu	37	4	48136088	48136088	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48136088delA	uc003gxx.3	-						TXK_uc003gxy.1_Intron	NM_003328	NP_003319			TXK tyrosine kinase							cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity				0																		---	---	---	---
FRYL	285527	broad.mit.edu	37	4	48625212	48625213	+	Intron	DEL	AC	-	-	rs776579	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:48625212_48625213delAC	uc003gyh.1	-						FRYL_uc003gyk.2_Intron|FRYL_uc003gyl.1_Intron|FRYL_uc003gym.1_Intron	NM_015030	NP_055845			furry-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			skin(1)	1																		---	---	---	---
SRP72	6731	broad.mit.edu	37	4	57352462	57352462	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57352462delT	uc003hbv.2	+						SRP72_uc010ihe.2_Intron|SRP72_uc003hbw.1_Intron	NM_006947	NP_008878			signal recognition particle 72kDa						response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
SRP72	6731	broad.mit.edu	37	4	57366537	57366537	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57366537delA	uc003hbv.2	+						SRP72_uc010ihe.2_Intron|SRP72_uc003hbx.2_5'Flank	NM_006947	NP_008878			signal recognition particle 72kDa						response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
POLR2B	5431	broad.mit.edu	37	4	57871705	57871705	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57871705delA	uc003hcl.1	+						POLR2B_uc011cae.1_Intron|POLR2B_uc011caf.1_Intron	NM_000938	NP_000929			DNA directed RNA polymerase II polypeptide B						mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			ovary(2)	2	Glioma(25;0.08)|all_neural(26;0.181)																	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66286386	66286386	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:66286386delA	uc003hcy.2	-						EPHA5_uc003hcx.2_Intron|EPHA5_uc003hcz.2_Intron|EPHA5_uc011cah.1_Intron|EPHA5_uc011cai.1_Intron|EPHA5_uc003hda.2_Intron	NM_004439	NP_004430			ephrin receptor EphA5 isoform a precursor						cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24															TSP Lung(17;0.13)			---	---	---	---
Unknown	0	broad.mit.edu	37	4	69444612	69444612	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69444612delT								YTHDC1 (228788 upstream) : UGT2B15 (67704 downstream)																																			---	---	---	---
UGT2B10	7365	broad.mit.edu	37	4	69874525	69874525	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69874525delA	uc011cao.1	-						UGT2B10_uc011can.1_Intron					RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;						lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(3)|ovary(2)	5																		---	---	---	---
UGT2B28	54490	broad.mit.edu	37	4	70152457	70152457	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70152457delT	uc003hej.2	+						UGT2B28_uc010ihr.2_Intron	NM_053039	NP_444267			UDP glucuronosyltransferase 2 family,						xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)													---	---	---	---
RUFY3	22902	broad.mit.edu	37	4	71644062	71644062	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71644062delT	uc003hfq.2	+						RUFY3_uc003hfp.3_Intron|RUFY3_uc011cax.1_Intron|RUFY3_uc003hfr.2_Intron|RUFY3_uc011cay.1_Intron	NM_014961	NP_055776			RUN and FYVE domain containing 3 isoform 2						negative regulation of axonogenesis	filopodium|growth cone					0		all_hematologic(202;0.248)	Lung(101;0.235)															---	---	---	---
ANKRD17	26057	broad.mit.edu	37	4	74008127	74008127	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:74008127delA	uc003hgp.2	-						ANKRD17_uc003hgo.2_Intron|ANKRD17_uc003hgq.2_Intron|ANKRD17_uc003hgr.2_Intron|ANKRD17_uc011cbd.1_Intron	NM_032217	NP_115593			ankyrin repeat domain protein 17 isoform a						interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			ovary(5)|skin(3)|upper_aerodigestive_tract(1)|lung(1)	10	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
USO1	8615	broad.mit.edu	37	4	76726517	76726518	+	Intron	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76726517_76726518delTT	uc003hiu.2	+						USO1_uc003hiv.2_Intron|USO1_uc003hiw.2_Intron	NM_003715	NP_003706			USO1 homolog, vesicle docking protein						intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
USO1	8615	broad.mit.edu	37	4	76734267	76734267	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76734267delA	uc003hiu.2	+						USO1_uc003hiv.2_Intron|USO1_uc003hiw.2_Intron	NM_003715	NP_003706			USO1 homolog, vesicle docking protein						intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
CNOT6L	246175	broad.mit.edu	37	4	78695895	78695895	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:78695895delA	uc011ccd.1	-						CNOT6L_uc003hks.2_Intron|CNOT6L_uc011cce.1_Intron	NM_144571	NP_653172			CCR4-NOT transcription complex, subunit 6-like						nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			large_intestine(1)	1																		---	---	---	---
LIN54	132660	broad.mit.edu	37	4	83867394	83867394	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:83867394delA	uc003hnx.3	-						LIN54_uc003hnz.3_Intron|LIN54_uc003hny.3_Intron|LIN54_uc010ijt.2_Intron|LIN54_uc010iju.2_Intron|LIN54_uc010ijv.2_Intron	NM_194282	NP_919258			lin-54 homolog isoform a						cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0		Hepatocellular(203;0.114)																---	---	---	---
HPSE	10855	broad.mit.edu	37	4	84230673	84230673	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:84230673delA	uc003hoj.3	-						HPSE_uc010ika.2_Intron|HPSE_uc011ccq.1_Intron|HPSE_uc011ccr.1_Intron|HPSE_uc011ccs.1_Intron|HPSE_uc011cct.1_Intron|HPSE_uc003hok.3_Intron	NM_001098540	NP_001092010			heparanase precursor						carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			ovary(1)	1		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)													---	---	---	---
FAM175A	84142	broad.mit.edu	37	4	84390470	84390471	+	Intron	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:84390470_84390471delTT	uc003hou.2	-						FAM175A_uc003hot.2_5'UTR|FAM175A_uc003hov.2_Intron	NM_139076	NP_620775			coiled-coil domain containing 98						chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			kidney(1)	1																		---	---	---	---
WDFY3	23001	broad.mit.edu	37	4	85661265	85661265	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85661265delA	uc003hpd.2	-							NM_014991	NP_055806			WD repeat and FYVE domain containing 3 isoform							cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)														---	---	---	---
SMARCAD1	56916	broad.mit.edu	37	4	95200318	95200318	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:95200318delT	uc003htc.3	+						SMARCAD1_uc003htb.3_Intron|SMARCAD1_uc003htd.3_Intron|SMARCAD1_uc010ila.2_Intron|SMARCAD1_uc011cdw.1_Intron	NM_020159	NP_064544			SWI/SNF-related, matrix-associated						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)														---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96199633	96199633	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96199633delT	uc003htp.1	-						UNC5C_uc010ilc.1_Intron|UNC5C_uc003htq.2_Intron	NM_003728	NP_003719			unc5C precursor						apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)														---	---	---	---
CFI	3426	broad.mit.edu	37	4	110681396	110681396	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110681396delA	uc003hzr.3	-						CFI_uc003hzq.2_Intron|CFI_uc011cft.1_Intron|CFI_uc003hzs.3_Intron	NM_000204	NP_000195			complement factor I preproprotein						complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity				0		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)														---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123271208	123271209	+	Frame_Shift_Ins	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123271208_123271209insA	uc003ieh.2	+	78	13873_13874	c.13828_13829insA	c.(13828-13830)GAAfs	p.E4610fs	KIAA1109_uc003iem.2_Frame_Shift_Ins_p.E966fs	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4610					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---
GAB1	2549	broad.mit.edu	37	4	144381841	144381841	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144381841delA	uc003ije.2	+						GAB1_uc003ijd.2_Intron|GAB1_uc011chq.1_Intron	NM_002039	NP_002030			GRB2-associated binding protein 1 isoform b						cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(2)|lung(1)|skin(1)	4	all_hematologic(180;0.158)																	---	---	---	---
SMARCA5	8467	broad.mit.edu	37	4	144451491	144451491	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144451491delT	uc003ijg.2	+							NM_003601	NP_003592			SWI/SNF-related matrix-associated						CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding			skin(1)	1	all_hematologic(180;0.158)																	---	---	---	---
SMAD1	4086	broad.mit.edu	37	4	146479232	146479233	+	3'UTR	DEL	AA	-	-	rs72042118		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146479232_146479233delAA	uc003ikc.2	+	7					SMAD1_uc003ikd.2_3'UTR|SMAD1_uc010iov.2_3'UTR|SMAD1_uc011cic.1_3'UTR	NM_005900	NP_005891			Sma- and Mad-related protein 1						BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			ovary(1)	1	all_hematologic(180;0.151)															OREG0016348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TMEM184C	55751	broad.mit.edu	37	4	148549705	148549705	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:148549705delA	uc003ila.3	+							NM_018241	NP_060711			transmembrane protein 184C							integral to membrane					0																		---	---	---	---
TRIM2	23321	broad.mit.edu	37	4	154215783	154215783	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154215783delT	uc003ing.2	+						TRIM2_uc003inh.2_Intron	NM_001130067	NP_001123539			tripartite motif-containing 2 isoform 2							cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)														---	---	---	---
ACCN5	51802	broad.mit.edu	37	4	156773541	156773541	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156773541delT	uc003ipe.1	-							NM_017419	NP_059115			amiloride-sensitive cation channel 5,							integral to membrane|plasma membrane				ovary(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141)														---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158262473	158262475	+	In_Frame_Del	DEL	CTC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:158262473_158262475delCTC	uc003ipm.3	+	12	2361_2363	c.1902_1904delCTC	c.(1900-1905)ATCTCC>ATC	p.S636del	GRIA2_uc011cit.1_In_Frame_Del_p.S589del|GRIA2_uc003ipl.3_In_Frame_Del_p.S636del|GRIA2_uc003ipk.3_In_Frame_Del_p.S589del|GRIA2_uc010iqh.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	636	Helical; (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)													---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160251199	160251199	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:160251199delT	uc003iqg.3	+							NM_014247	NP_055062			Rap guanine nucleotide exchange factor 2						cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)														---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169145281	169145281	+	Intron	DEL	T	-	-	rs76603259		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:169145281delT	uc003irp.2	-						DDX60_uc003iro.2_Intron	NM_017631	NP_060101			DEAD (Asp-Glu-Ala-Asp) box polypeptide 60								ATP binding|ATP-dependent helicase activity|RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)														---	---	---	---
ODZ3	55714	broad.mit.edu	37	4	183659381	183659381	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183659381delA	uc003ivd.1	+						ODZ3_uc003ive.1_Intron	NM_001080477	NP_001073946			odz, odd Oz/ten-m homolog 3						signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---
ODZ3	55714	broad.mit.edu	37	4	183710620	183710620	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183710620delA	uc003ivd.1	+							NM_001080477	NP_001073946			odz, odd Oz/ten-m homolog 3						signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---
Unknown	0	broad.mit.edu	37	4	184250557	184250557	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:184250557delA								WWC2 (8630 upstream) : CDKN2AIP (115232 downstream)																																			---	---	---	---
CDKN2AIP	55602	broad.mit.edu	37	4	184368679	184368679	+	3'UTR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:184368679delT	uc003ivp.1	+	3					CDKN2AIP_uc003ivq.1_3'UTR	NM_017632	NP_060102			CDKN2A interacting protein						negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding				0		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)														---	---	---	---
IRF2	3660	broad.mit.edu	37	4	185329266	185329266	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185329266delG	uc003iwf.3	-							NM_002199	NP_002190			interferon regulatory factor 2						blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)														---	---	---	---
SDHA	6389	broad.mit.edu	37	5	218381	218382	+	5'UTR	INS	-	C	C	rs3214561		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:218381_218382insC	uc003jao.3	+	1					CCDC127_uc003jam.1_5'Flank|SDHA_uc003jan.2_5'UTR|SDHA_uc011clv.1_5'UTR|SDHA_uc011clw.1_5'UTR|SDHA_uc003jap.3_5'UTR	NM_004168	NP_004159			succinate dehydrogenase complex, subunit A,						nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)									Familial_Paragangliomas				---	---	---	---
FLJ33360	401172	broad.mit.edu	37	5	6312456	6312457	+	3'UTR	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:6312456_6312457insA	uc003jdn.1	-	2						NM_001001702	NP_001001702			SubName: Full=FLJ33360 protein; SubName: Full=cDNA FLJ33360 fis, clone BRACE2005253;												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	5	12205514	12205514	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:12205514delT								CTNND2 (301404 upstream) : None (None downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	5	13637900	13637900	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13637900delT								None (None upstream) : DNAH5 (52537 downstream)																																			---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13900295	13900295	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13900295delA	uc003jfd.2	-							NM_001369	NP_001360			dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
RNASEN	29102	broad.mit.edu	37	5	31451753	31451753	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31451753delA	uc003jhg.2	-						RNASEN_uc003jhh.2_Intron|RNASEN_uc003jhi.2_Intron	NM_013235	NP_037367			ribonuclease III, nuclear isoform 1						gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0																		---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799541	31799541	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31799541delC	uc003jhl.2	+	2	574	c.186delC	c.(184-186)AGCfs	p.S62fs	PDZD2_uc003jhm.2_Frame_Shift_Del_p.S62fs	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	62					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9																		---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32355671	32355671	+	3'UTR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32355671delA	uc003jhr.1	-	20					ZFR_uc010ium.1_3'UTR|ZFR_uc011cny.1_RNA	NM_016107	NP_057191			zinc finger RNA binding protein						multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding				0				STAD - Stomach adenocarcinoma(35;0.19)														---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33938339	33938339	+	3'UTR	DEL	G	-	-	rs3832336		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33938339delG	uc003jic.1	+	1						NM_016568	NP_057652			relaxin/insulin-like family peptide receptor 3							integral to plasma membrane	N-formyl peptide receptor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
TTC23L	153657	broad.mit.edu	37	5	34861084	34861085	+	Intron	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:34861084_34861085delTT	uc003jiu.2	+							NM_144725	NP_653326			tetratricopeptide repeat domain 23-like								binding			central_nervous_system(1)	1																		---	---	---	---
BRIX1	55299	broad.mit.edu	37	5	34922965	34922965	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:34922965delC	uc003jja.2	+						BRIX1_uc011col.1_3'UTR	NM_018321	NP_060791			BRIX						ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding				0																		---	---	---	---
C5orf42	65250	broad.mit.edu	37	5	37169834	37169834	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37169834delT	uc011cpa.1	-						C5orf42_uc011coy.1_Intron|C5orf42_uc003jks.2_Intron|C5orf42_uc011coz.1_Intron|C5orf42_uc003jkr.1_Intron	NM_023073	NP_075561			hypothetical protein LOC65250											ovary(4)|breast(2)|skin(1)	7	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)															---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37304827	37304827	+	Intron	DEL	A	-	-	rs73749010	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37304827delA	uc003jku.1	-						NUP155_uc003jkt.1_Intron|NUP155_uc010iuz.1_Intron	NM_153485	NP_705618			nucleoporin 155kDa isoform 1						carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
NUP155	9631	broad.mit.edu	37	5	37333456	37333456	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37333456delA	uc003jku.1	-						NUP155_uc003jkt.1_Intron|NUP155_uc010iuz.1_Intron	NM_153485	NP_705618			nucleoporin 155kDa isoform 1						carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
WDR70	55100	broad.mit.edu	37	5	37703038	37703038	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37703038delT	uc003jkv.2	+							NM_018034	NP_060504			WD repeat domain 70											ovary(1)|central_nervous_system(1)	2	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---
OSMR	9180	broad.mit.edu	37	5	38904310	38904310	+	Intron	DEL	T	-	-	rs111373045		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38904310delT	uc003jln.1	+							NM_003999	NP_003990			oncostatin M receptor precursor						cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)																	---	---	---	---
ZNF131	7690	broad.mit.edu	37	5	43122055	43122055	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43122055delT	uc011cpw.1	+						ZNF131_uc010ivl.1_Intron|ZNF131_uc003jnj.3_Intron|ZNF131_uc003jnk.2_Intron|ZNF131_uc003jnn.3_Intron|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron|ZNF131_uc003jnm.2_5'Flank	NM_003432	NP_003423			zinc finger protein 131							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
HMGCS1	3157	broad.mit.edu	37	5	43298078	43298078	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43298078delA	uc003jnr.3	-						HMGCS1_uc003jnq.3_Intron	NM_001098272	NP_001091742			hydroxymethylglutaryl-CoA synthase 1						cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity				0																		---	---	---	---
DHX29	54505	broad.mit.edu	37	5	54566178	54566179	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54566178_54566179insT	uc003jpx.2	-						DHX29_uc010ivw.2_Intron	NM_019030	NP_061903			DEAH (Asp-Glu-Ala-His) box polypeptide 29								ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)																---	---	---	---
DHX29	54505	broad.mit.edu	37	5	54566634	54566634	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54566634delA	uc003jpx.2	-						DHX29_uc010ivw.2_Intron	NM_019030	NP_061903			DEAH (Asp-Glu-Ala-His) box polypeptide 29								ATP binding|ATP-dependent helicase activity|translation initiation factor activity			ovary(2)|central_nervous_system(1)|skin(1)	4		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)																---	---	---	---
IL31RA	133396	broad.mit.edu	37	5	55178712	55178713	+	Intron	INS	-	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55178712_55178713insG	uc003jql.2	+						IL31RA_uc003jqk.2_Intron|IL31RA_uc011cqj.1_Intron|IL31RA_uc003jqm.2_Intron|IL31RA_uc003jqn.2_Intron|IL31RA_uc010iwa.1_Intron|IL31RA_uc003jqo.2_Intron	NM_139017	NP_620586			gp130-like monocyte receptor						anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)																---	---	---	---
PDE4D	5144	broad.mit.edu	37	5	58287544	58287544	+	Intron	DEL	A	-	-	rs3840338		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:58287544delA	uc003jsa.2	-						PDE4D_uc003jrx.2_Intron|PDE4D_uc003jry.2_Intron|PDE4D_uc003jrz.2_Intron|PDE4D_uc003jsb.2_Intron|PDE4D_uc003jrt.2_Intron|PDE4D_uc003jru.2_Intron|PDE4D_uc003jrv.2_Intron|PDE4D_uc003jrw.2_Intron|PDE4D_uc003jrs.2_Intron	NM_001104631	NP_001098101			phosphodiesterase 4D isoform 1						signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)													---	---	---	---
Unknown	0	broad.mit.edu	37	5	62836890	62836890	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:62836890delA								ISCA1P1 (763720 upstream) : HTR1A (419389 downstream)																																			---	---	---	---
ADAMTS6	11174	broad.mit.edu	37	5	64466698	64466698	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64466698delT	uc003jtp.2	-						ADAMTS6_uc003jto.2_Intron|ADAMTS6_uc003jtq.2_Intron	NM_197941	NP_922932			ADAM metallopeptidase with thrombospondin type 1						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)														---	---	---	---
ADAMTS6	11174	broad.mit.edu	37	5	64766506	64766507	+	Intron	DEL	TA	-	-	rs112458452		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:64766506_64766507delTA	uc003jtp.2	-						ADAMTS6_uc003jto.2_Intron|ADAMTS6_uc003jtq.2_Intron|ADAMTS6_uc003jtr.1_Intron	NM_197941	NP_922932			ADAM metallopeptidase with thrombospondin type 1						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding				0		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)														---	---	---	---
FCHO2	115548	broad.mit.edu	37	5	72264289	72264289	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72264289delT	uc003kcl.2	+						FCHO2_uc011csl.1_Intron|FCHO2_uc011csk.1_Intron	NM_138782	NP_620137			FCH domain only 2 isoform a											ovary(1)	1		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)														---	---	---	---
GPR98	84059	broad.mit.edu	37	5	90106341	90106342	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90106341_90106342insT	uc003kju.2	+	74	15360_15361	c.15264_15265insT	c.(15262-15267)GAATTTfs	p.E5088fs	GPR98_uc003kjt.2_Frame_Shift_Ins_p.E2794fs|GPR98_uc003kjw.2_Frame_Shift_Ins_p.E749fs	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	5088_5089	Calx-beta 33.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
RIOK2	55781	broad.mit.edu	37	5	96506865	96506865	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:96506865delA	uc003kmz.2	-						RIOK2_uc003kna.3_Intron	NM_018343	NP_060813			RIO kinase 2 isoform 1								ATP binding|protein serine/threonine kinase activity			kidney(1)	1		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)														---	---	---	---
Unknown	0	broad.mit.edu	37	5	102368767	102368767	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:102368767delA								PAM (3351 upstream) : GIN1 (52937 downstream)																																			---	---	---	---
MAN2A1	4124	broad.mit.edu	37	5	109117082	109117082	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:109117082delT	uc003kou.1	+							NM_002372	NP_002363			mannosidase, alpha, class 2A, member 1						mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)														---	---	---	---
Unknown	0	broad.mit.edu	37	5	115106723	115106723	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115106723delA								TMED7-TICAM2 (144853 upstream) : CDO1 (33709 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	5	117115221	117115221	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:117115221delT								None (None upstream) : None (None downstream)																																			---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118451837	118451837	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118451837delT	uc003ksd.2	+						DMXL1_uc010jcl.1_Intron|DMXL1_uc003ksc.1_Intron	NM_005509	NP_005500			Dmx-like 1											ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)														---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118580031	118580031	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:118580031delT	uc003ksd.2	+						DMXL1_uc010jcl.1_Intron|DMXL1_uc010jcm.1_Intron|DMXL1_uc003kse.1_Intron	NM_005509	NP_005500			Dmx-like 1											ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)														---	---	---	---
SRFBP1	153443	broad.mit.edu	37	5	121362866	121362866	+	3'UTR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:121362866delT	uc003kst.1	+	8						NM_152546	NP_689759			serum response factor binding protein 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm					0		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)														---	---	---	---
CSNK1G3	1456	broad.mit.edu	37	5	122924299	122924299	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:122924299delA	uc003ktm.2	+						CSNK1G3_uc003ktl.2_Intron|CSNK1G3_uc003ktn.2_Intron|CSNK1G3_uc003kto.2_Intron|CSNK1G3_uc011cwr.1_Intron|CSNK1G3_uc011cws.1_Intron|CSNK1G3_uc010jda.2_Intron	NM_004384	NP_004375			casein kinase 1, gamma 3 isoform 1						Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)														---	---	---	---
Unknown	0	broad.mit.edu	37	5	130331823	130331823	+	IGR	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:130331823delC								CHSY3 (809497 upstream) : HINT1 (163052 downstream)																																			---	---	---	---
KIF3A	11127	broad.mit.edu	37	5	132056409	132056409	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132056409delA	uc003kxo.2	-						KIF3A_uc003kxn.2_Intron|KIF3A_uc011cxf.1_Intron|KIF3A_uc003kxp.2_Intron	NM_007054	NP_008985			kinesin family member 3A						blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			pancreas(1)	1		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
CDKL3	51265	broad.mit.edu	37	5	133634563	133634563	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:133634563delT	uc003kzf.3	-						CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.1_Intron	NM_001113575	NP_001107047			cyclin-dependent kinase-like 3 isoform 1							cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
SEC24A	10802	broad.mit.edu	37	5	134017933	134017933	+	Intron	DEL	A	-	-	rs79922505		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:134017933delA	uc003kzs.2	+						SEC24A_uc011cxu.1_Intron	NM_021982	NP_068817			SEC24 related gene family, member A						COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
GFRA3	2676	broad.mit.edu	37	5	137593643	137593643	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137593643delG	uc003lcn.2	-						GFRA3_uc003lco.2_Intron	NM_001496	NP_001487			GDNF family receptor alpha 3 preproprotein						peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)															---	---	---	---
SLC23A1	9963	broad.mit.edu	37	5	138716491	138716492	+	Frame_Shift_Ins	INS	-	G	G	rs72552253	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138716491_138716492insG	uc003leh.2	-	4	489_490	c.392_393insC	c.(391-393)CCGfs	p.P131fs	SLC23A1_uc003leg.2_Frame_Shift_Ins_p.P131fs	NM_005847	NP_005838	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (nucleobase	131					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)													---	---	---	---
DIAPH1	1729	broad.mit.edu	37	5	140907038	140907039	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140907038_140907039insA	uc003llb.3	-						DIAPH1_uc011dbd.1_5'Flank|DIAPH1_uc003llc.3_Intron	NM_005219	NP_005210			diaphanous 1 isoform 1						regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
TCERG1	10915	broad.mit.edu	37	5	145889882	145889887	+	Intron	DEL	AAAAAA	-	-	rs67804115		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:145889882_145889887delAAAAAA	uc003lob.2	+						TCERG1_uc003loc.2_Intron	NM_006706	NP_006697			transcription elongation regulator 1 isoform 1						regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			ovary(1)|skin(1)	2		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
SH3TC2	79628	broad.mit.edu	37	5	148384559	148384559	+	Intron	DEL	G	-	-	rs1432799	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148384559delG	uc003lpu.2	-						SH3TC2_uc003lpp.1_Intron|SH3TC2_uc010jgw.2_Intron|SH3TC2_uc003lps.2_Intron|SH3TC2_uc003lpt.2_Intron|SH3TC2_uc010jgx.2_Intron	NM_024577	NP_078853			SH3 domain and tetratricopeptide repeats 2								binding			ovary(2)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
ARHGEF37	389337	broad.mit.edu	37	5	148988942	148988943	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148988942_148988943insA	uc003lra.1	+							NM_001001669	NP_001001669			hypothetical protein LOC389337						regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity				0																		---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149212972	149212974	+	In_Frame_Del	DEL	GAG	-	-	rs139404347	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149212972_149212974delGAG	uc003lrc.2	+	5	1378_1380	c.1336_1338delGAG	c.(1336-1338)GAGdel	p.E450del	PPARGC1B_uc003lrb.1_In_Frame_Del_p.E450del|PPARGC1B_uc003lrd.2_In_Frame_Del_p.E411del|PPARGC1B_uc003lrf.2_In_Frame_Del_p.E429del|PPARGC1B_uc003lre.1_In_Frame_Del_p.E429del	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor	450	Glu-rich.				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)															---	---	---	---
GM2A	2760	broad.mit.edu	37	5	150800814	150800814	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150800814delT	uc011dcs.1	+							NM_000405				GM2 ganglioside activator precursor							lysosome|nucleolus	sphingolipid activator protein activity				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
HAND1	9421	broad.mit.edu	37	5	153857162	153857163	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:153857162_153857163delAG	uc003lvn.2	-	1	662_663	c.406_407delCT	c.(406-408)CTGfs	p.L136fs		NM_004821	NP_004812	O96004	HAND1_HUMAN	basic helix-loop-helix transcription factor	136	Helix-loop-helix motif.				angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity				0	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)															---	---	---	---
HAVCR1	26762	broad.mit.edu	37	5	156469527	156469527	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156469527delA	uc010jij.1	-						HAVCR1_uc011ddl.1_Intron|HAVCR1_uc003lwi.2_Intron	NM_001099414	NP_001092884			hepatitis A virus cellular receptor 1						interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
CCNJL	79616	broad.mit.edu	37	5	159707366	159707366	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:159707366delA	uc003lyb.1	-						CCNJL_uc011dee.1_Intron|CCNJL_uc003lyc.1_Intron|CCNJL_uc011def.1_Intron	NM_024565	NP_078841			cyclin J-like							nucleus					0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
Unknown	0	broad.mit.edu	37	5	176526937	176526940	+	IGR	DEL	CTCT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176526937_176526940delCTCT								FGFR4 (1813 upstream) : NSD1 (33140 downstream)																																			---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176722543	176722543	+	3'UTR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176722543delA	uc003mfr.3	+	23					NSD1_uc003mft.3_3'UTR|NSD1_uc011dfx.1_3'UTR	NM_022455	NP_071900			nuclear receptor binding SET domain protein 1						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)				T	NUP98	AML		Sotos Syndrome		Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	HNSCC(47;0.14)			---	---	---	---
BTNL3	10917	broad.mit.edu	37	5	180424090	180424091	+	Intron	DEL	GA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180424090_180424091delGA	uc003mmr.2	+							NM_197975	NP_932079			butyrophilin-like 3 precursor						lipid metabolic process	integral to membrane					0	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)															---	---	---	---
WRNIP1	56897	broad.mit.edu	37	6	2785016	2785016	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:2785016delA	uc003mtz.2	+						WRNIP1_uc003mua.2_Intron	NM_020135	NP_064520			Werner helicase interacting protein isoform 1						DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			ovary(1)|pancreas(1)	2	Ovarian(93;0.0412)	all_hematologic(90;0.0895)																---	---	---	---
RIPK1	8737	broad.mit.edu	37	6	3081034	3081035	+	Intron	DEL	CC	-	-	rs3830793		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:3081034_3081035delCC	uc010jni.2	+						RIPK1_uc003muv.3_Intron|RIPK1_uc003muw.3_Intron|RIPK1_uc011dhs.1_Intron|RIPK1_uc003mux.2_Intron	NM_003804	NP_003795			receptor (TNFRSF)-interacting serine-threonine						activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			large_intestine(3)|lung(1)|skin(1)	5	Ovarian(93;0.0386)	all_hematologic(90;0.0895)																---	---	---	---
SLC22A23	63027	broad.mit.edu	37	6	3289874	3289875	+	Intron	INS	-	CA	CA			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:3289874_3289875insCA	uc003mvm.3	-						SLC22A23_uc003mvn.3_Intron|SLC22A23_uc003mvo.3_Intron|SLC22A23_uc003mvp.1_Intron|SLC22A23_uc010jnn.2_Intron|SLC22A23_uc003mvq.1_5'Flank	NM_015482	NP_056297			solute carrier family 22, member 23 isoform a						ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)																---	---	---	---
SSR1	6745	broad.mit.edu	37	6	7310339	7310340	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7310339_7310340insA	uc003mxf.3	-						SSR1_uc003mxg.3_Intron|SSR1_uc010jny.2_Intron	NM_003144	NP_003135			signal sequence receptor, alpha precursor						cotranslational protein targeting to membrane|positive regulation of cell proliferation	endoplasmic reticulum membrane|integral to membrane	signal sequence binding				0	Ovarian(93;0.0398)																	---	---	---	---
CAGE1	285782	broad.mit.edu	37	6	7338983	7338983	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7338983delT	uc003mxi.2	-						CAGE1_uc003mxh.2_Intron|CAGE1_uc003mxj.2_Intron|CAGE1_uc003mxk.1_Intron	NM_205864	NP_995586			cancer antigen 1												0	Ovarian(93;0.0418)																	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7563892	7563892	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7563892delG	uc003mxp.1	+						DSP_uc003mxq.1_Intron	NM_004415	NP_004406			desmoplakin isoform I						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)														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7565382	7565383	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7565382_7565383delAA	uc003mxp.1	+						DSP_uc003mxq.1_Intron	NM_004415	NP_004406			desmoplakin isoform I						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)														---	---	---	---
SLC35B3	51000	broad.mit.edu	37	6	8434774	8434774	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:8434774delT	uc010joe.2	-						uc003mye.2_5'Flank|SLC35B3_uc003myc.2_Intron|SLC35B3_uc003myb.2_Intron|SLC35B3_uc011did.1_Intron|SLC35B3_uc003myd.2_Intron|SLC35B3_uc010jof.2_Intron|SLC35B3_uc011die.1_Intron	NM_001142541	NP_001136013			solute carrier family 35, member B3						transmembrane transport	Golgi membrane|integral to membrane					0	Ovarian(93;0.0569)																	---	---	---	---
Unknown	0	broad.mit.edu	37	6	9100852	9100853	+	IGR	DEL	CT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:9100852_9100853delCT								HULC (446775 upstream) : None (None downstream)																																			---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10557410	10557410	+	Intron	DEL	C	-	-	rs55942030		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10557410delC	uc010joo.2	+						GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Intron|GCNT2_uc003mzd.2_Frame_Shift_Del_p.P252fs	NM_145649	NP_663624			glucosaminyl (N-acetyl) transferase 2,							Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)	2	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)														---	---	---	---
TMEM14C	51522	broad.mit.edu	37	6	10731012	10731012	+	3'UTR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10731012delA	uc003mzh.2	+	6					TMEM14C_uc003mzi.2_3'UTR	NM_016462	NP_057546			transmembrane protein 14C						heme biosynthetic process	integral to membrane|mitochondrial membrane					0	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Epithelial(50;0.246)															---	---	---	---
SYCP2L	221711	broad.mit.edu	37	6	10942593	10942593	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10942593delT	uc003mzo.2	+						SYCP2L_uc010jow.2_Intron	NM_001040274	NP_001035364			synaptonemal complex protein 2-like							nucleus				ovary(1)|skin(1)	2	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)															---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15246576	15246576	+	5'UTR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15246576delT	uc003nbj.2	+	1					JARID2_uc011diu.1_Intron|JARID2_uc011div.1_5'Flank	NM_004973	NP_004964			jumonji, AT rich interactive domain 2 protein						central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)																---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17773893	17773894	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17773893_17773894insT	uc003ncg.3	-						KIF13A_uc003ncf.2_Intron|KIF13A_uc003nch.3_Intron|KIF13A_uc003nci.3_Intron|KIF13A_uc003nce.1_Intron	NM_022113	NP_071396			kinesin family member 13A isoform a						cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			large_intestine(2)|ovary(2)	4	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)															---	---	---	---
HIST1H1A	3024	broad.mit.edu	37	6	26017548	26017548	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26017548delT	uc003nfo.2	-	1	493	c.413delA	c.(412-414)AAGfs	p.K138fs		NM_005325	NP_005316	Q02539	H11_HUMAN	histone cluster 1, H1a	138					nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding			ovary(2)	2																		---	---	---	---
BTN3A1	11119	broad.mit.edu	37	6	26410420	26410422	+	Intron	DEL	AAA	-	-	rs75190190		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26410420_26410422delAAA	uc003nhv.2	+						BTN3A1_uc011dkj.1_Intron|BTN3A1_uc011dkk.1_Intron|BTN3A1_uc010jqj.2_Intron	NM_007048	NP_008979			butyrophilin, subfamily 3, member A1 isoform a						lipid metabolic process	integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
HIST1H2AJ	8331	broad.mit.edu	37	6	27783366	27783366	+	5'Flank	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27783366delT	uc003njn.1	-							NM_021066	NP_066544			histone cluster 1, H2aj						nucleosome assembly	nucleosome|nucleus	DNA binding				0																		---	---	---	---
SCAND3	114821	broad.mit.edu	37	6	28542708	28542708	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28542708delT	uc003nlo.2	-	3	2392	c.1774delA	c.(1774-1776)AGCfs	p.S592fs		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	592					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
TRIM10	10107	broad.mit.edu	37	6	30123336	30123337	+	Intron	INS	-	AC	AC			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30123336_30123337insAC	uc003npo.3	-						TRIM10_uc003npn.2_Intron	NM_006778	NP_006769			tripartite motif-containing 10 isoform 1							cytoplasm	zinc ion binding				0																		---	---	---	---
TRIM15	89870	broad.mit.edu	37	6	30131328	30131331	+	5'UTR	DEL	TCTT	-	-	rs62407492		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30131328_30131331delTCTT	uc010jrx.2	+	1					TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	NM_033229	NP_150232			tripartite motif protein 15						mesodermal cell fate determination	intracellular	zinc ion binding				0																		---	---	---	---
VARS	7407	broad.mit.edu	37	6	31760416	31760418	+	Intron	DEL	CCT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31760416_31760418delCCT	uc003nxe.2	-						VARS_uc011doi.1_Intron	NM_006295	NP_006286			valyl-tRNA synthetase						translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)													---	---	---	---
HLA-DRB5	3127	broad.mit.edu	37	6	32547921	32547922	+	Intron	INS	-	AGAC	AGAC			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32547921_32547922insAGAC	uc003obk.3	-						HLA-DRB1_uc011dqa.1_Intron|HLA-DRB6_uc003obo.1_Intron|uc010jub.1_5'Flank|HLA-DRB1_uc003obp.3_Intron|HLA-DRB1_uc011dqb.1_Intron	NM_002125	NP_002116			major histocompatibility complex, class II, DR						antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex					0																		---	---	---	---
RXRB	6257	broad.mit.edu	37	6	33164405	33164405	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33164405delA	uc003odb.2	-						RXRB_uc003odc.2_Intron|RXRB_uc003odd.2_Intron|RXRB_uc011dqr.1_Intron|RXRB_uc011dqs.1_Intron|RXRB_uc003ode.1_Intron|RXRB_uc011dqt.1_Intron|RXRB_uc011dqu.1_Intron	NM_021976	NP_068811			retinoid X receptor, beta						regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			ovary(3)	3					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)													---	---	---	---
SLC26A8	116369	broad.mit.edu	37	6	35927057	35927057	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35927057delT	uc003olm.2	-						SLC26A8_uc010jwa.2_Intron|SLC26A8_uc003olk.2_Intron|SLC26A8_uc003oln.2_Intron|SLC26A8_uc003oll.2_Intron	NM_052961	NP_443193			solute carrier family 26, member 8 isoform a						cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			ovary(2)	2																		---	---	---	---
FTSJD2	23070	broad.mit.edu	37	6	37420622	37420622	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:37420622delT	uc003ons.2	+						FTSJD2_uc010jwu.2_Intron	NM_015050	NP_055865			FtsJ methyltransferase domain containing 2						mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
KIF6	221458	broad.mit.edu	37	6	39607631	39607631	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39607631delA	uc003oot.2	-						KIF6_uc010jxa.1_5'Flank|KIF6_uc011dua.1_Intron|KIF6_uc010jxb.1_Intron	NM_145027	NP_659464			kinesin family member 6						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3																		---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42195939	42195939	+	3'UTR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42195939delT	uc003osd.2	-	18					TRERF1_uc011duq.1_3'UTR|TRERF1_uc003osb.2_3'UTR|TRERF1_uc003osc.2_3'UTR|TRERF1_uc003ose.2_3'UTR	NM_033502	NP_277037			transcriptional regulating factor 1						cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			ovary(3)|pancreas(1)|skin(1)	5	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)															---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46658609	46658609	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46658609delA	uc003oyj.2	+	1	2744	c.2744delA	c.(2743-2745)CAAfs	p.Q915fs	TDRD6_uc010jze.2_Frame_Shift_Del_p.Q909fs	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	915					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)															---	---	---	---
C6orf138	442213	broad.mit.edu	37	6	48036112	48036112	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:48036112delG	uc011dwm.1	-	1	314	c.229delC	c.(229-231)CTGfs	p.L77fs	C6orf138_uc011dwn.1_Intron|C6orf138_uc003ozf.2_Frame_Shift_Del_p.L94fs	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	94						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1																		---	---	---	---
MUT	4594	broad.mit.edu	37	6	49408202	49408202	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:49408202delT	uc003ozg.3	-							NM_000255	NP_000246			methylmalonyl Coenzyme A mutase precursor						fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity				0	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54804491	54804491	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:54804491delT	uc003pck.2	+							NM_001010872	NP_001010872			hypothetical protein LOC222584											ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)																	---	---	---	---
PHF3	23469	broad.mit.edu	37	6	64410483	64410483	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64410483delT	uc003pep.1	+						PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_Intron|PHF3_uc011dxs.1_Intron	NM_015153	NP_055968			PHD finger protein 3						multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(3)|lung(1)|skin(1)	5	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)															---	---	---	---
EYS	346007	broad.mit.edu	37	6	66012441	66012441	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:66012441delT	uc011dxu.1	-						uc011dxv.1_Frame_Shift_Del_p.Y9fs	NM_001142800	NP_001136272			eyes shut homolog isoform 1						response to stimulus|visual perception	extracellular region	calcium ion binding			lung(4)|ovary(1)|skin(1)	6																		---	---	---	---
MCART3P	442229	broad.mit.edu	37	6	66498264	66498264	+	RNA	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:66498264delA	uc011dxw.1	+	1		c.493delA				NR_026540				Homo sapiens mitochondrial carrier triple repeat 3 pseudogene, mRNA (cDNA clone IMAGE:4821649).												0																		---	---	---	---
LMBRD1	55788	broad.mit.edu	37	6	70428833	70428833	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70428833delA	uc003pfa.2	-						LMBRD1_uc003pey.2_Intron|LMBRD1_uc003pez.2_Intron|LMBRD1_uc010kal.2_Intron|LMBRD1_uc003pfb.2_Intron	NM_018368	NP_060838			liver regeneration p-53 related protein						interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1																		---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70972893	70972893	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70972893delA	uc003pfg.3	-						COL9A1_uc003pfe.3_Intron|COL9A1_uc003pff.3_Intron	NM_001851	NP_001842			alpha 1 type IX collagen isoform 1 precursor						axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4																		---	---	---	---
KCNQ5	56479	broad.mit.edu	37	6	73787655	73787656	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73787655_73787656insT	uc003pgk.2	+						KCNQ5_uc003pgj.3_Intron|KCNQ5_uc011dyh.1_Intron|KCNQ5_uc011dyi.1_Intron|KCNQ5_uc010kat.2_Intron|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Intron	NM_019842	NP_062816			potassium voltage-gated channel, KQT-like						protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(4)|large_intestine(2)|skin(1)	7		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)														---	---	---	---
MTO1	25821	broad.mit.edu	37	6	74189447	74189447	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74189447delT	uc003pgy.3	+						MTO1_uc010kav.2_Intron|MTO1_uc003pgz.3_Intron|MTO1_uc003pha.3_Intron|MTO1_uc003phb.3_Intron|MTO1_uc010kaw.1_5'Flank	NM_133645	NP_598400			mitochondrial translation optimization 1 homolog						tRNA processing	mitochondrion	flavin adenine dinucleotide binding			ovary(3)|skin(2)|pancreas(1)	6																OREG0003887	type=REGULATORY REGION|Gene=MTO1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
CD109	135228	broad.mit.edu	37	6	74432962	74432962	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74432962delT	uc003php.2	+						CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Intron|CD109_uc010kba.2_Intron	NM_133493	NP_598000			CD109 antigen isoform 1 precursor							anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			large_intestine(2)|ovary(2)	4																		---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76072773	76072773	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76072773delT	uc003pia.2	-						FILIP1_uc003phy.1_Intron|FILIP1_uc003phz.2_5'Flank|FILIP1_uc010kbe.2_Intron	NM_015687	NP_056502			filamin A interacting protein 1											skin(3)|ovary(1)	4																		---	---	---	---
SENP6	26054	broad.mit.edu	37	6	76333590	76333590	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76333590delT	uc003pid.3	+						SENP6_uc003pie.3_Intron|SENP6_uc003pic.2_Intron	NM_015571	NP_056386			SUMO1/sentrin specific peptidase 6 isoform 1						proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)																---	---	---	---
SENP6	26054	broad.mit.edu	37	6	76385140	76385140	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76385140delT	uc003pid.3	+						SENP6_uc003pie.3_Intron|SENP6_uc010kbf.2_Intron|SENP6_uc003pic.2_Intron|SENP6_uc003pif.1_Intron	NM_015571	NP_056386			SUMO1/sentrin specific peptidase 6 isoform 1						proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1)	6		all_hematologic(105;0.189)																---	---	---	---
TBX18	9096	broad.mit.edu	37	6	85469936	85469936	+	Intron	DEL	T	-	-	rs74587058		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:85469936delT	uc003pkl.1	-						TBX18_uc010kbq.1_Intron	NM_001080508	NP_001073977			T-box 18						multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|pancreas(2)|lung(1)	5		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)														---	---	---	---
RARS2	57038	broad.mit.edu	37	6	88240369	88240369	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88240369delT	uc003pme.2	-						RARS2_uc003pmb.2_Intron|RARS2_uc003pmc.2_Intron|RARS2_uc003pmd.2_Intron|RARS2_uc003pmf.2_Intron	NM_020320	NP_064716			arginyl-tRNA synthetase 2, mitochondrial						arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|central_nervous_system(1)	3		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)														---	---	---	---
RNGTT	8732	broad.mit.edu	37	6	89554055	89554056	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:89554055_89554056insA	uc003pmr.2	-						RNGTT_uc003pms.2_Intron|RNGTT_uc011dzu.1_Intron|RNGTT_uc003pmt.2_Intron	NM_003800	NP_003791			RNA guanylyltransferase and 5'-phosphatase						interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			upper_aerodigestive_tract(1)	1		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)														---	---	---	---
KIAA0776	23376	broad.mit.edu	37	6	96974386	96974386	+	Intron	DEL	A	-	-	rs9320194	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:96974386delA	uc003por.2	+						KIAA0776_uc010kck.2_Intron	NM_015323	NP_056138			hypothetical protein LOC23376						negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity			ovary(1)	1		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0934)														---	---	---	---
Unknown	0	broad.mit.edu	37	6	100302178	100302179	+	IGR	INS	-	TC	TC			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:100302178_100302179insTC								PRDM13 (238724 upstream) : MCHR2 (65607 downstream)																																			---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101075980	101075980	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101075980delA	uc003pqk.2	-							NM_006828	NP_006819			activating signal cointegrator 1 complex subunit						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)														---	---	---	---
Unknown	0	broad.mit.edu	37	6	104346664	104346675	+	IGR	DEL	AGGAAGGAAGGA	-	-	rs7748915		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:104346664_104346675delAGGAAGGAAGGA								None (None upstream) : HACE1 (829293 downstream)																																			---	---	---	---
PREP	5550	broad.mit.edu	37	6	105725779	105725779	+	3'UTR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105725779delA	uc003prc.2	-	15						NM_002726	NP_002717			prolyl endopeptidase						proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)													---	---	---	---
PDSS2	57107	broad.mit.edu	37	6	107595537	107595537	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107595537delT	uc003prt.2	-						PDSS2_uc011eak.1_Intron|PDSS2_uc011eal.1_Intron|PDSS2_uc003pru.2_Intron|PDSS2_uc003prv.2_Intron	NM_020381	NP_065114			prenyl diphosphate synthase, subunit 2						isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity			ovary(2)	2	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)														---	---	---	---
SEC63	11231	broad.mit.edu	37	6	108222728	108222729	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108222728_108222729delAA	uc003psc.3	-						SEC63_uc003psb.3_Intron	NM_007214	NP_009145			SEC63-like protein						protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			ovary(1)|skin(1)	2		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)														---	---	---	---
ARMC2	84071	broad.mit.edu	37	6	109285993	109285993	+	Intron	DEL	A	-	-	rs77214837		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109285993delA	uc003pss.3	+						ARMC2_uc011eao.1_Intron	NM_032131	NP_115507			armadillo repeat containing 2								binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)														---	---	---	---
SESN1	27244	broad.mit.edu	37	6	109321648	109321648	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109321648delA	uc003pst.3	-						SESN1_uc003psu.2_Intron	NM_014454	NP_055269			sestrin 1						cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				ovary(1)	1		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)														---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111752429	111752429	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111752429delA	uc003puy.3	-						REV3L_uc003pux.3_Intron|REV3L_uc003puz.3_Intron	NM_002912	NP_002903			DNA polymerase zeta						DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
FRK	2444	broad.mit.edu	37	6	116347786	116347786	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:116347786delT	uc003pwi.1	-							NM_002031	NP_002022			fyn-related kinase						negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|lung(3)	6		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)														---	---	---	---
MCM9	254394	broad.mit.edu	37	6	119245399	119245399	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:119245399delA	uc003pyh.2	-							NM_153255	NP_694987			minichromosome maintenance complex component 9						DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			ovary(1)	1		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)														---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123637480	123637480	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123637480delT	uc003pzj.1	-						TRDN_uc010kem.1_Intron	NM_006073	NP_006064			triadin						muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			ovary(1)	1				GBM - Glioblastoma multiforme(226;0.184)														---	---	---	---
ARHGAP18	93663	broad.mit.edu	37	6	129920561	129920561	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:129920561delA	uc003qbr.2	-						ARHGAP18_uc011ebw.1_Intron	NM_033515	NP_277050			Rho GTPase activating protein 18						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			ovary(2)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)														---	---	---	---
ARG1	383	broad.mit.edu	37	6	131894346	131894346	+	5'Flank	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131894346delA	uc003qcp.1	+						ARG1_uc003qco.1_5'Flank|ARG1_uc010kfm.1_5'Flank	NM_000045	NP_000036			arginase 1						arginine catabolic process|urea cycle	cytosol	arginase activity			ovary(1)	1	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)													---	---	---	---
ENPP3	5169	broad.mit.edu	37	6	132058644	132058644	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:132058644delT	uc003qcu.3	+						ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Intron	NM_005021	NP_005012			ectonucleotide pyrophosphatase/phosphodiesterase						immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			ovary(3)|skin(1)	4	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)														---	---	---	---
AHI1	54806	broad.mit.edu	37	6	135754115	135754115	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:135754115delA	uc003qgi.2	-						AHI1_uc003qgf.2_Intron|AHI1_uc003qgg.2_Intron|AHI1_uc003qgh.2_Intron|AHI1_uc003qgj.2_Intron|AHI1_uc003qgk.3_Intron|AHI1_uc003qgl.3_Intron	NM_001134831	NP_001128303			Abelson helper integration site 1 isoform a							adherens junction|cilium|microtubule basal body				ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)														---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143090598	143090598	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:143090598delT	uc003qjd.2	-							NM_006734	NP_006725			human immunodeficiency virus type I enhancer						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)														---	---	---	---
PHACTR2	9749	broad.mit.edu	37	6	144081696	144081696	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144081696delA	uc003qjq.3	+	5	710	c.580delA	c.(580-582)AAAfs	p.K194fs	PHACTR2_uc010khh.2_Intron|PHACTR2_uc010khi.2_Frame_Shift_Del_p.K205fs|PHACTR2_uc003qjr.3_Intron	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	194							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144806372	144806372	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144806372delT	uc003qkt.2	+							NM_007124	NP_009055			utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	145093031	145093031	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:145093031delT	uc003qkt.2	+							NM_007124	NP_009055			utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	145168143	145168144	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:145168143_145168144insA	uc003qkt.2	+							NM_007124	NP_009055			utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146247560	146247560	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146247560delA	uc003qlf.2	-						SHPRH_uc003qld.2_Intron|SHPRH_uc003qle.2_Intron|SHPRH_uc003qlg.1_Intron|SHPRH_uc003qlh.2_Intron|SHPRH_uc003qli.1_Intron	NM_001042683	NP_001036148			SNF2 histone linker PHD RING helicase isoform a						DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)														---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146268785	146268786	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146268785_146268786insA	uc003qlf.2	-						SHPRH_uc003qld.2_Intron|SHPRH_uc003qle.2_Intron|SHPRH_uc003qlg.1_Intron|SHPRH_uc003qlj.1_Intron|SHPRH_uc003qlk.1_Intron	NM_001042683	NP_001036148			SNF2 histone linker PHD RING helicase isoform a						DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			ovary(1)|kidney(1)|central_nervous_system(1)	3		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)														---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152751776	152751776	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152751776delA	uc010kiw.2	-	35	5132	c.4530delT	c.(4528-4530)TTTfs	p.F1510fs	SYNE1_uc003qot.3_Frame_Shift_Del_p.F1517fs|SYNE1_uc003qou.3_Frame_Shift_Del_p.F1510fs|SYNE1_uc010kjb.1_Frame_Shift_Del_p.F1493fs|SYNE1_uc003qow.2_Frame_Shift_Del_p.F805fs	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1510	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152793344	152793344	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152793344delA	uc010kiw.2	-						SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Intron|SYNE1_uc010kjb.1_Intron|SYNE1_uc003qpa.1_Intron|SYNE1_uc003qox.1_Intron|SYNE1_uc003qoz.2_Intron|SYNE1_uc003qoy.2_Intron	NM_182961	NP_892006			spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
MYCT1	80177	broad.mit.edu	37	6	153019117	153019117	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:153019117delT	uc003qpd.3	+	1	88	c.80delT	c.(79-81)CTTfs	p.L27fs	MYCT1_uc010kjc.1_Frame_Shift_Del_p.L27fs|MYCT1_uc003qpc.3_Frame_Shift_Del_p.L27fs	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	27						nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)														---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157517193	157517193	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157517193delA	uc003qqn.2	+						ARID1B_uc003qqo.2_Intron|ARID1B_uc003qqp.2_Intron	NM_017519	NP_059989			AT rich interactive domain 1B (SWI1-like)						chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---
Unknown	0	broad.mit.edu	37	6	158659463	158659465	+	IGR	DEL	TTA	-	-	rs71030150		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158659463_158659465delTTA								GTF2H5 (39097 upstream) : TULP4 (74227 downstream)																																			---	---	---	---
LPAL2	80350	broad.mit.edu	37	6	160914198	160914198	+	Intron	DEL	T	-	-	rs146778738		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160914198delT	uc003qtj.2	-						LPAL2_uc011efy.1_Intron	NR_028093				Homo sapiens cDNA FLJ43922 fis, clone TESTI4012406.												0		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)														---	---	---	---
MAP3K4	4216	broad.mit.edu	37	6	161519118	161519119	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161519118_161519119insA	uc003qtn.2	+						MAP3K4_uc010kkc.1_Intron|MAP3K4_uc003qto.2_Intron|MAP3K4_uc011efz.1_Intron|MAP3K4_uc011ega.1_Intron|MAP3K4_uc003qtp.2_Intron|MAP3K4_uc003qtq.2_5'Flank	NM_005922	NP_005913			mitogen-activated protein kinase kinase kinase 4						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)														---	---	---	---
TBP	6908	broad.mit.edu	37	6	170873745	170873745	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170873745delT	uc003qxt.2	+						TBP_uc003qxu.2_Intron|TBP_uc011ehf.1_Intron	NM_003194	NP_003185			TATA box binding protein						cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)														---	---	---	---
EIF2AK1	27102	broad.mit.edu	37	7	6078070	6078070	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6078070delA	uc003spp.2	-						EIF2AK1_uc003spq.2_Intron|EIF2AK1_uc011jwm.1_Intron	NM_014413	NP_055228			eukaryotic translation initiation factor 2-alpha						negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)														---	---	---	---
C7orf26	79034	broad.mit.edu	37	7	6646327	6646330	+	Intron	DEL	TTTT	-	-	rs67788546		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6646327_6646330delTTTT	uc003sqo.1	+						C7orf26_uc003sqp.1_Intron|C7orf26_uc003sqq.1_Intron	NM_024067	NP_076972			hypothetical protein LOC79034											ovary(1)	1		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)														---	---	---	---
AGR3	155465	broad.mit.edu	37	7	16904641	16904642	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:16904641_16904642insA	uc003sts.2	-							NM_176813	NP_789783			breast cancer membrane protein 11 precursor							extracellular region					0	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)														---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18869002	18869002	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:18869002delA	uc003suh.2	+						HDAC9_uc003sue.2_Intron|HDAC9_uc011jyd.1_Intron|HDAC9_uc003sui.2_Intron|HDAC9_uc003suj.2_Intron|HDAC9_uc003suk.2_Intron|HDAC9_uc003sua.1_3'UTR	NM_058176	NP_478056			histone deacetylase 9 isoform 1						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			lung(2)|central_nervous_system(2)|kidney(1)	5	all_lung(11;0.187)				Valproic Acid(DB00313)													---	---	---	---
ITGB8	3696	broad.mit.edu	37	7	20371449	20371450	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20371449_20371450insT	uc003suu.2	+	1	725_726	c.20_21insT	c.(19-21)GCTfs	p.A7fs	ITGB8_uc011jyh.1_Intron|ITGB8_uc003sut.2_Frame_Shift_Ins_p.A7fs	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	7					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3																		---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21611299	21611308	+	Intron	DEL	ATTTTCTGTC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21611299_21611308delATTTTCTGTC	uc003svc.2	+							NM_003777	NP_003768			dynein, axonemal, heavy chain 11						microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
NPY	4852	broad.mit.edu	37	7	24329404	24329404	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:24329404delT	uc003sww.1	+							NM_000905	NP_000896			neuropeptide Y precursor						adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity				0																		---	---	---	---
TAX1BP1	8887	broad.mit.edu	37	7	27868118	27868119	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27868118_27868119delAA	uc003szl.2	+						TAX1BP1_uc011jzo.1_Intron|TAX1BP1_uc003szk.2_Intron|TAX1BP1_uc011jzp.1_Intron	NM_006024	NP_006015			Tax1 (human T-cell leukemia virus type I)						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)															---	---	---	---
Unknown	0	broad.mit.edu	37	7	29771801	29771801	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:29771801delA	uc003tai.2	+											Homo sapiens DPY-19-like 2 pseudogene 3 (DPY19L2P3) pseudogene mRNA, complete sequence.																														---	---	---	---
ANLN	54443	broad.mit.edu	37	7	36447172	36447172	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:36447172delT	uc003tff.2	+						ANLN_uc011kaz.1_Intron|ANLN_uc003tfg.2_Intron|ANLN_uc010kxe.2_Intron	NM_018685	NP_061155			anillin, actin binding protein						cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			ovary(2)|skin(1)	3																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	37860780	37860781	+	Intron	DEL	AC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37860780_37860781delAC	uc003tfl.2	+											Homo sapiens, clone IMAGE:3881224, mRNA.																														---	---	---	---
C7orf25	79020	broad.mit.edu	37	7	42966271	42966271	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:42966271delA	uc010kxr.2	-						PSMA2_uc003thy.2_Intron|PSMA2_uc010kxt.2_Intron|PSMA2_uc003thz.1_Intron	NM_001099858	NP_001093328			hypothetical protein LOC79020 a											skin(1)	1																		---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43490294	43490295	+	Intron	INS	-	AC	AC	rs138588837	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43490294_43490295insAC	uc003tid.1	+						HECW1_uc011kbi.1_Intron	NM_015052	NP_055867			NEDD4-like ubiquitin-protein ligase 1						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																		---	---	---	---
POLR2J4	84820	broad.mit.edu	37	7	44012367	44012367	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44012367delC	uc010kxw.2	-						POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.2_Intron					SubName: Full=cDNA FLJ58900, weakly similar to Uroplakin-3B;												0																		---	---	---	---
CAMK2B	816	broad.mit.edu	37	7	44260400	44260400	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44260400delC	uc003tkq.2	-						CAMK2B_uc003tkp.2_Intron|CAMK2B_uc003tkx.2_Intron|CAMK2B_uc010kyd.2_Intron|CAMK2B_uc003tkr.2_Intron|CAMK2B_uc003tks.2_Intron|CAMK2B_uc003tku.2_Intron|CAMK2B_uc003tkv.2_Intron|CAMK2B_uc003tkt.2_Intron|CAMK2B_uc003tkw.2_Intron|CAMK2B_uc010kyc.2_Intron|CAMK2B_uc003tkn.2_Intron	NM_001220	NP_001211			calcium/calmodulin-dependent protein kinase II						interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
SUN3	256979	broad.mit.edu	37	7	48045524	48045524	+	Intron	DEL	T	-	-	rs80067951		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48045524delT	uc003tof.2	-						SUN3_uc010kyq.2_Intron|SUN3_uc003tog.2_Intron|SUN3_uc011kcf.1_Intron	NM_152782	NP_689995			Sad1 and UNC84 domain containing 1							integral to membrane				central_nervous_system(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	56699457	56699457	+	IGR	DEL	A	-	-	rs78077053		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56699457delA								DKFZp434L192 (134480 upstream) : ZNF479 (487871 downstream)																																			---	---	---	---
GUSB	2990	broad.mit.edu	37	7	65439089	65439090	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65439089_65439090insA	uc003tun.2	-						GUSB_uc011kdt.1_Intron	NM_000181	NP_000172			glucuronidase, beta precursor						glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	65915032	65915033	+	IGR	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:65915032_65915033insA								NCRNA00174 (49637 upstream) : LOC493754 (78413 downstream)																																			---	---	---	---
EIF4H	7458	broad.mit.edu	37	7	73601779	73601779	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:73601779delT	uc003uad.1	+						RFC2_uc011kfa.1_Intron|EIF4H_uc011kfg.1_Intron|EIF4H_uc010lbm.2_Intron|EIF4H_uc003uae.1_Intron|EIF4H_uc003uaf.1_Intron	NM_022170	NP_071496			eukaryotic translation initiation factor 4H						interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity				0																		---	---	---	---
GTF2IRD1	9569	broad.mit.edu	37	7	74016918	74016918	+	3'UTR	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:74016918delG	uc003uar.1	+	26										SubName: Full=GTF2I repeat domain containing 1 isoform 2 variant; Flags: Fragment;							nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			ovary(4)	4																		---	---	---	---
GTF2IP1	2970	broad.mit.edu	37	7	74776123	74776124	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:74776123_74776124insA	uc003ubw.2	-						uc003ubz.1_Intron|PMS2L2_uc011kfp.1_Intron|PMS2L2_uc011kfq.1_Intron|uc003ucd.2_Intron|uc010lck.2_Intron					SubName: Full=cDNA FLJ61347, highly similar to General transcription factor II-I;												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	7	75804673	75804673	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75804673delA								MDH2 (108745 upstream) : SRRM3 (26543 downstream)																																			---	---	---	---
PHTF2	57157	broad.mit.edu	37	7	77523207	77523208	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:77523207_77523208insT	uc003ugs.3	+						PHTF2_uc003ugo.3_Intron|PHTF2_uc003ugp.2_Intron|PHTF2_uc003ugq.3_Intron|PHTF2_uc010ldv.2_Intron|PHTF2_uc003ugr.3_Intron|PHTF2_uc003ugt.3_Intron|PHTF2_uc003ugu.3_Intron	NM_001127357	NP_001120829			putative homeodomain transcription factor 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			ovary(1)	1																		---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81591827	81591827	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81591827delA	uc003uhr.1	-						CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713			calcium channel, voltage-dependent, alpha							voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)													---	---	---	---
CACNA2D1	781	broad.mit.edu	37	7	81598067	81598067	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:81598067delT	uc003uhr.1	-						CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713			calcium channel, voltage-dependent, alpha							voltage-gated calcium channel complex	metal ion binding			ovary(5)|pancreas(1)	6					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)													---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82783905	82783905	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:82783905delA	uc003uhx.2	-						PCLO_uc003uhv.2_Intron	NM_033026	NP_149015			piccolo isoform 1						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			ovary(7)	7																		---	---	---	---
SEMA3E	9723	broad.mit.edu	37	7	83119353	83119353	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:83119353delA	uc003uhy.1	-							NM_012431	NP_036563			semaphorin 3E precursor						axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)																---	---	---	---
SEMA3D	223117	broad.mit.edu	37	7	84750985	84750986	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:84750985_84750986insA	uc003uic.2	-						SEMA3D_uc010led.2_Intron|SEMA3D_uc010lee.1_Intron	NM_152754	NP_689967			semaphorin 3D precursor						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			ovary(3)|large_intestine(2)	5																		---	---	---	---
KRIT1	889	broad.mit.edu	37	7	91870165	91870165	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91870165delA	uc003ulq.1	-						KRIT1_uc010lev.1_Intron|KRIT1_uc003ulr.1_Intron|KRIT1_uc003uls.1_Intron|KRIT1_uc003ult.1_Intron|KRIT1_uc003ulu.1_Intron|KRIT1_uc003ulv.1_Intron	NM_194456	NP_919438			krev interaction trapped 1 isoform 1						angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			ovary(2)|lung(1)	3	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)											Familial_Cerebral_Cavernous_Angioma				---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92883251	92883251	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92883251delA	uc003umo.2	+						CCDC132_uc003umq.2_Intron|CCDC132_uc003ump.2_Intron|CCDC132_uc003umr.2_Intron|CCDC132_uc011khz.1_Intron|CCDC132_uc003umn.2_Intron	NM_017667	NP_060137			coiled-coil domain containing 132 isoform a												0	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
GNG11	2791	broad.mit.edu	37	7	93555384	93555384	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:93555384delT	uc003und.2	+							NM_004126	NP_004117			guanine nucleotide binding protein gamma 11						cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			kidney(1)	1	all_cancers(62;2.39e-10)|all_epithelial(64;1.54e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)															---	---	---	---
PON2	5445	broad.mit.edu	37	7	95053909	95053909	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95053909delA	uc003unv.2	-						PON2_uc003unu.2_Intron|PON2_uc010lfk.2_Intron|PON2_uc003unw.2_Intron	NM_000305	NP_000296			paraoxonase 2 isoform 1						aromatic compound catabolic process	extracellular region|plasma membrane	arylesterase activity|identical protein binding|metal ion binding				0	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)															---	---	---	---
PDK4	5166	broad.mit.edu	37	7	95221168	95221168	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95221168delA	uc003uoa.2	-						PDK4_uc003unz.2_Intron	NM_002612	NP_002603			pyruvate dehydrogenase kinase 4 precursor						glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity				0	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)															---	---	---	---
PDAP1	11333	broad.mit.edu	37	7	98994127	98994127	+	3'UTR	DEL	C	-	-	rs113663373		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98994127delC	uc003uqe.2	-	6						NM_014891	NP_055706			PDGFA associated protein 1						cell proliferation|signal transduction						0	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)		Becaplermin(DB00102)													---	---	---	---
PILRB	29990	broad.mit.edu	37	7	99936209	99936209	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99936209delT	uc003uuk.2	+						PMS2L1_uc003uuh.2_5'Flank|PMS2L1_uc003uui.2_5'Flank|PMS2L1_uc010lgv.1_5'Flank|PILRB_uc003uul.2_Intron	NM_013440	NP_038468			paired immunoglobulin-like type 2 receptor beta						activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
PILRB	29990	broad.mit.edu	37	7	99943553	99943553	+	5'UTR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99943553delT	uc003uuk.2	+	4					PILRB_uc003uul.2_5'UTR	NM_013440	NP_038468			paired immunoglobulin-like type 2 receptor beta						activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity				0	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100367079	100367079	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100367079delT	uc003uwj.2	+						ZAN_uc003uwk.2_Intron|ZAN_uc003uwl.2_Intron|ZAN_uc010lhh.2_Intron|ZAN_uc010lhi.2_Intron|ZAN_uc011kkd.1_Intron	NM_003386	NP_003377			zonadhesin isoform 3						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)															---	---	---	---
PUS7	54517	broad.mit.edu	37	7	105108970	105108970	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105108970delT	uc003vcx.2	-						PUS7_uc010lji.2_Intron|PUS7_uc003vcy.2_Intron|PUS7_uc003vcz.1_Intron	NM_019042	NP_061915			pseudouridylate synthase 7 homolog						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)	1																		---	---	---	---
RINT1	60561	broad.mit.edu	37	7	105182782	105182782	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105182782delA	uc003vda.1	+						RINT1_uc010ljj.1_Intron	NM_021930	NP_068749			RAD50 interactor 1						cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
CDHR3	222256	broad.mit.edu	37	7	105667118	105667118	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:105667118delC	uc003vdl.3	+						CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Intron|CDHR3_uc011klt.1_Intron|CDHR3_uc003vdn.2_Intron	NM_152750	NP_689963			hypothetical protein LOC222256 precursor						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1																		---	---	---	---
LAMB4	22798	broad.mit.edu	37	7	107763584	107763584	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107763584delA	uc010ljo.1	-	2	110	c.26delT	c.(25-27)TTGfs	p.L9fs	LAMB4_uc003vey.2_Frame_Shift_Del_p.L9fs	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	9					cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8																		---	---	---	---
DNAJB9	4189	broad.mit.edu	37	7	108213939	108213939	+	3'UTR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:108213939delT	uc003vfn.2	+	3						NM_012328	NP_036460			DnaJ (Hsp40) homolog, subfamily B, member 9						ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding				0																		---	---	---	---
C7orf53	286006	broad.mit.edu	37	7	112126831	112126831	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:112126831delA	uc011kmq.1	+						C7orf53_uc003vgl.2_Intron|C7orf53_uc003vgm.2_Intron	NM_001134468	NP_001127940			hypothetical protein LOC286006							integral to membrane				ovary(1)	1																		---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114174519	114174519	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:114174519delT	uc003vhb.2	+						FOXP2_uc003vgu.2_Intron|FOXP2_uc003vgz.2_Intron|FOXP2_uc003vha.2_Intron|FOXP2_uc011kmu.1_Intron|FOXP2_uc011kmv.1_Intron|FOXP2_uc003vgt.1_Intron|FOXP2_uc003vgv.1_Intron|FOXP2_uc003vgw.2_Intron|FOXP2_uc003vgx.2_Intron|FOXP2_uc003vhd.2_Intron|FOXP2_uc003vhc.2_Intron	NM_014491	NP_055306			forkhead box P2 isoform I						camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8																		---	---	---	---
AASS	10157	broad.mit.edu	37	7	121726330	121726330	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121726330delA	uc003vka.2	-						AASS_uc011knu.1_Intron|AASS_uc011knv.1_Intron|AASS_uc003vkb.2_Intron|AASS_uc011knw.1_Intron	NM_005763	NP_005754			aminoadipate-semialdehyde synthase precursor						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)													---	---	---	---
ZC3HC1	51530	broad.mit.edu	37	7	129663647	129663647	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129663647delT	uc003vpi.2	-						ZC3HC1_uc003vph.2_Intron|ZC3HC1_uc010lma.2_Intron	NM_016478	NP_057562			zinc finger, C3HC type 1						cell division|mitosis	nucleus	protein kinase binding|zinc ion binding				0	Melanoma(18;0.0435)																	---	---	---	---
ZC3HC1	51530	broad.mit.edu	37	7	129679416	129679416	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129679416delA	uc003vpi.2	-						ZC3HC1_uc003vph.2_Intron|ZC3HC1_uc010lma.2_Intron	NM_016478	NP_057562			zinc finger, C3HC type 1						cell division|mitosis	nucleus	protein kinase binding|zinc ion binding				0	Melanoma(18;0.0435)																	---	---	---	---
TMEM209	84928	broad.mit.edu	37	7	129815503	129815503	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129815503delA	uc003vpn.2	-						TMEM209_uc010lmc.1_Intron	NM_032842	NP_116231			transmembrane protein 209							integral to membrane				ovary(2)|large_intestine(1)	3	Melanoma(18;0.0435)																	---	---	---	---
TSGA14	95681	broad.mit.edu	37	7	130067761	130067761	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:130067761delT	uc003vpz.2	-						TSGA14_uc010lmf.2_Intron|TSGA14_uc003vqa.2_Intron|TSGA14_uc011kpg.1_Intron|TSGA14_uc003vqb.1_Intron	NM_018718	NP_061188			testis specific, 14						G2/M transition of mitotic cell cycle	centrosome|cytosol					0	Melanoma(18;0.0435)																	---	---	---	---
COPG2	26958	broad.mit.edu	37	7	130147428	130147429	+	Intron	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:130147428_130147429delTT	uc003vqh.1	-							NM_012133	NP_036265			coatomer protein complex, subunit gamma 2						intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity				0	Melanoma(18;0.0435)																	---	---	---	---
CALD1	800	broad.mit.edu	37	7	134635269	134635269	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:134635269delT	uc003vrz.2	+						CALD1_uc003vry.2_Intron|CALD1_uc003vsa.2_Intron|CALD1_uc003vsb.2_Intron|CALD1_uc010lmm.2_Intron|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Intron|CALD1_uc003vsd.2_Intron|CALD1_uc011kpu.1_Intron|CALD1_uc011kpv.1_Intron|CALD1_uc003vse.2_Intron	NM_033138	NP_149129			caldesmon 1 isoform 1						cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding				0																		---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137154482	137154482	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:137154482delT	uc003vtt.2	-						DGKI_uc003vtu.2_Intron	NM_004717	NP_004708			diacylglycerol kinase, iota						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
RAB19	401409	broad.mit.edu	37	7	140125525	140125526	+	Intron	DEL	AA	-	-	rs71761236		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140125525_140125526delAA	uc010lni.2	+						RAB19_uc011krc.1_Intron	NM_001008749	NP_001008749			RAB19, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding				0	Melanoma(164;0.0142)																	---	---	---	---
DENND2A	27147	broad.mit.edu	37	7	140218541	140218541	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:140218541delA	uc010lnj.2	-						DENND2A_uc011kre.1_Intron|DENND2A_uc010lnk.2_Intron|DENND2A_uc003vvw.2_Intron	NM_015689	NP_056504			DENN/MADD domain containing 2A											ovary(3)|breast(1)	4	Melanoma(164;0.00956)																	---	---	---	---
TPK1	27010	broad.mit.edu	37	7	144320149	144320149	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:144320149delA	uc003weq.2	-						TPK1_uc003weo.2_Intron|TPK1_uc003wep.2_Intron|TPK1_uc003wer.2_Intron|TPK1_uc003wes.2_Intron	NM_022445	NP_071890			thiamin pyrophosphokinase 1 isoform a						thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			ovary(2)	2					Thiamine(DB00152)													---	---	---	---
ZNF212	7988	broad.mit.edu	37	7	148947139	148947139	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148947139delT	uc003wfp.2	+							NM_012256	NP_036388			zinc finger protein 212						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			ovary(1)	1	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)															---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151902167	151902167	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151902167delT	uc003wla.2	-						MLL3_uc003wkz.2_Intron	NM_170606	NP_733751			myeloid/lymphoid or mixed-lineage leukemia 3						intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---
LMBR1	64327	broad.mit.edu	37	7	156476636	156476636	+	3'UTR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:156476636delA	uc003wmw.3	-	17					LMBR1_uc003wmv.3_3'UTR|LMBR1_uc003wmx.3_3'UTR|LMBR1_uc010lqn.2_3'UTR|LMBR1_uc011kvx.1_3'UTR	NM_022458	NP_071903			limb region 1 protein							integral to membrane	receptor activity				0	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)														---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9563873	9563873	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:9563873delT	uc003wss.2	+						TNKS_uc011kwv.1_Intron|TNKS_uc011kww.1_Intron	NM_003747	NP_003738			tankyrase, TRF1-interacting ankyrin-related						mitotic spindle organization|mRNA transport|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|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)														---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9605394	9605394	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:9605394delT	uc003wss.2	+						TNKS_uc011kww.1_Intron|TNKS_uc010lrt.1_Intron	NM_003747	NP_003738			tankyrase, TRF1-interacting ankyrin-related						mitotic spindle organization|mRNA transport|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|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)														---	---	---	---
TNKS	8658	broad.mit.edu	37	8	9605523	9605523	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:9605523delT	uc003wss.2	+						TNKS_uc011kww.1_Intron|TNKS_uc010lrt.1_Intron	NM_003747	NP_003738			tankyrase, TRF1-interacting ankyrin-related						mitotic spindle organization|mRNA transport|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|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			lung(4)|ovary(2)|kidney(1)	7				COAD - Colon adenocarcinoma(149;0.0467)														---	---	---	---
Unknown	0	broad.mit.edu	37	8	11189696	11189696	+	IGR	DEL	A	-	-	rs78909439		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11189696delA								AMAC1L2 (1 upstream) : TDH (7450 downstream)																																			---	---	---	---
CSGALNACT1	55790	broad.mit.edu	37	8	19263216	19263217	+	3'UTR	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19263216_19263217delTT	uc011kyn.1	-	10					CSGALNACT1_uc011kyo.1_3'UTR|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_3'UTR	NM_001130518	NP_001123990			chondroitin sulfate						anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)														---	---	---	---
HR	55806	broad.mit.edu	37	8	21977130	21977131	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21977130_21977131delAA	uc003xas.2	-						HR_uc003xat.2_Intron	NM_005144	NP_005135			hairless protein isoform a								DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)														---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25240127	25240127	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25240127delT	uc003xeg.2	+						PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xei.2_Intron|DOCK5_uc003xej.2_Intron	NM_024940	NP_079216			dedicator of cytokinesis 5							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)														---	---	---	---
EBF2	64641	broad.mit.edu	37	8	25708397	25708398	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25708397_25708398delAA	uc003xes.1	-						PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_Intron	NM_022659	NP_073150			early B-cell factor 2						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			ovary(3)|skin(1)	4		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)														---	---	---	---
PPP2R2A	5520	broad.mit.edu	37	8	25902514	25902514	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25902514delA	uc003xek.2	+						EBF2_uc003xes.1_5'Flank|EBF2_uc003xet.1_5'Flank	NM_002717	NP_002708			alpha isoform of regulatory subunit B55, protein						protein dephosphorylation|signal transduction	protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			ovary(1)|kidney(1)	2		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)														---	---	---	---
PBK	55872	broad.mit.edu	37	8	27697882	27697882	+	5'Flank	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27697882delA	uc003xgi.2	-						PBK_uc011lap.1_5'Flank	NM_018492	NP_060962			PDZ binding kinase						mitosis		ATP binding|protein binding|protein serine/threonine kinase activity				0		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)														---	---	---	---
INTS9	55756	broad.mit.edu	37	8	28627336	28627336	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28627336delG	uc003xha.2	-						INTS9_uc011lav.1_Intron|INTS9_uc011law.1_Intron|INTS9_uc011lax.1_Intron|INTS9_uc010lvc.2_Intron	NM_018250	NP_060720			integrator complex subunit 9 isoform 1						snRNA processing	integrator complex	protein binding			central_nervous_system(1)|pancreas(1)	2		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)												OREG0018682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GSR	2936	broad.mit.edu	37	8	30546609	30546609	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30546609delG	uc003xih.1	-							NM_000637	NP_000628			glutathione reductase precursor						cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			ovary(2)|pancreas(2)|central_nervous_system(1)	5				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)													---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38880562	38880562	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38880562delT	uc003xmr.2	+						ADAM9_uc011lcf.1_Intron|ADAM9_uc011lcg.1_Intron|ADAM9_uc010lwr.2_Intron	NM_003816	NP_003807			ADAM metallopeptidase domain 9 isoform 1						activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)															---	---	---	---
UBE2V2	7336	broad.mit.edu	37	8	48962336	48962337	+	Intron	DEL	TT	-	-	rs72170674		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48962336_48962337delTT	uc003xqm.2	+							NM_003350	NP_003341			ubiquitin-conjugating enzyme E2v2						cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair	cytoplasm|nucleus|UBC13-MMS2 complex	acid-amino acid ligase activity|protein binding				0		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196)											Direct_reversal_of_damage|Rad6_pathway					---	---	---	---
RB1CC1	9821	broad.mit.edu	37	8	53568546	53568547	+	Intron	DEL	AC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:53568546_53568547delAC	uc003xre.3	-						RB1CC1_uc003xrf.3_Intron	NM_014781	NP_055596			Rb1-inducible coiled coil protein 1 isoform 1						autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)																---	---	---	---
ATP6V1H	51606	broad.mit.edu	37	8	54628588	54628588	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54628588delA	uc003xrl.2	-						ATP6V1H_uc003xrk.2_Intron|ATP6V1H_uc003xrm.2_Intron|ATP6V1H_uc003xrn.2_Intron|ATP6V1H_uc011ldv.1_Intron|ATP6V1H_uc010lyd.2_Intron	NM_213620	NP_998785			ATPase, H+ transporting, lysosomal 50/57kDa, V1						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)															---	---	---	---
RP1	6101	broad.mit.edu	37	8	55534223	55534223	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55534223delC	uc003xsd.1	+						RP1_uc011ldy.1_Intron	NM_006269	NP_006260			retinitis pigmentosa RP1 protein						axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	58332252	58332253	+	IGR	DEL	TT	-	-	rs68140715		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:58332252_58332253delTT								C8orf71 (134964 upstream) : FAM110B (574860 downstream)																																			---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61714076	61714076	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61714076delT	uc003xue.2	+							NM_017780	NP_060250			chromodomain helicase DNA binding protein 7						central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---
ASPH	444	broad.mit.edu	37	8	62555483	62555483	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:62555483delA	uc003xuj.2	-						ASPH_uc011leg.1_Intron|ASPH_uc003xuo.2_Intron|ASPH_uc011leh.1_Intron|ASPH_uc003xul.2_Intron|ASPH_uc011lei.1_Intron|ASPH_uc011lej.1_Intron|ASPH_uc003xun.2_Intron|ASPH_uc011lek.1_Intron|ASPH_uc003xum.2_Intron	NM_004318	NP_004309			aspartate beta-hydroxylase isoform a						muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			ovary(3)	3	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)													---	---	---	---
Unknown	0	broad.mit.edu	37	8	65102093	65102096	+	IGR	DEL	GAAG	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:65102093_65102096delGAAG								YTHDF3 (976748 upstream) : MIR124-2 (189610 downstream)																																			---	---	---	---
RRS1	23212	broad.mit.edu	37	8	67341501	67341501	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67341501delC	uc003xwa.2	+	1	239	c.135delC	c.(133-135)AACfs	p.N45fs		NM_015169	NP_055984	Q15050	RRS1_HUMAN	homolog of yeast ribosome biogenesis regulatory	45					mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus					0		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)													OREG0018806	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68044403	68044403	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68044403delA	uc003xxi.2	+						CSPP1_uc003xxg.1_Intron|CSPP1_uc003xxh.1_Intron|CSPP1_uc003xxj.2_Intron|CSPP1_uc003xxk.2_Intron	NM_001077204	NP_001070672			centrosome spindle pole associated protein 1							centrosome|microtubule|spindle				ovary(3)|breast(2)	5	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68179244	68179244	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68179244delT	uc003xxo.1	-						ARFGEF1_uc003xxl.1_Intron	NM_006421	NP_006412			brefeldin A-inhibited guanine						exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70514026	70514026	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70514026delT	uc010lza.1	+	10	1740	c.1023delT	c.(1021-1023)CCTfs	p.P341fs	SULF1_uc003xyd.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xye.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyg.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyh.1_RNA	NM_015170	NP_055985	Q8IWU6	SULF1_HUMAN	sulfatase 1 precursor	341					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1)	7	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)															---	---	---	---
TRAM1	23471	broad.mit.edu	37	8	71506691	71506691	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71506691delA	uc003xyo.1	-						TRAM1_uc011lfc.1_Intron	NM_014294	NP_055109			translocation associated membrane protein 1						cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			ovary(1)	1			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)															---	---	---	---
JPH1	56704	broad.mit.edu	37	8	75157302	75157302	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:75157302delT	uc003yae.2	-	4	1407	c.1367delA	c.(1366-1368)TATfs	p.Y456fs	JPH1_uc003yaf.2_Frame_Shift_Del_p.Y456fs|JPH1_uc003yag.1_Frame_Shift_Del_p.Y320fs	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	junctophilin 1	456	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				ovary(1)	1	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)															---	---	---	---
HNF4G	3174	broad.mit.edu	37	8	76463542	76463542	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:76463542delA	uc003yaq.2	+						HNF4G_uc003yar.2_Intron	NM_004133	NP_004124			hepatocyte nuclear factor 4, gamma						endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)	1	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)															---	---	---	---
PEX2	5828	broad.mit.edu	37	8	77896154	77896155	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77896154_77896155insT	uc003yax.2	-	4	718_719	c.260_261insA	c.(259-261)AATfs	p.N87fs	PEX2_uc003yay.2_Frame_Shift_Ins_p.N87fs|PEX2_uc003yaz.2_Frame_Shift_Ins_p.N87fs	NM_000318	NP_000309	P28328	PEX2_HUMAN	peroxin 2	87					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	8	89498122	89498122	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89498122delA								MMP16 (158405 upstream) : None (None downstream)																																			---	---	---	---
OSGIN2	734	broad.mit.edu	37	8	90936586	90936587	+	Intron	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:90936586_90936587delTT	uc003yeg.2	+						OSGIN2_uc003yeh.2_Intron	NM_004337	NP_004328			oxidative stress induced growth inhibitor family						germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)															---	---	---	---
NBN	4683	broad.mit.edu	37	8	90965929	90965929	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:90965929delA	uc003yej.1	-						NBN_uc003yei.1_Intron|NBN_uc011lgb.1_Intron	NM_002485	NP_002476			nibrin						cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			central_nervous_system(3)|kidney(3)|lung(1)	7			BRCA - Breast invasive adenocarcinoma(11;0.0344)										Direct_reversal_of_damage|Homologous_recombination	Nijmegen_Breakage_syndrome				---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92352906	92352906	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:92352906delA	uc003yex.2	+						SLC26A7_uc003yey.2_Intron|SLC26A7_uc003yez.2_Intron|SLC26A7_uc003yfa.2_Intron	NM_052832	NP_439897			solute carrier family 26, member 7 isoform a							basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(11;0.00802)															---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	92983160	92983160	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:92983160delT	uc003yfd.2	-						RUNX1T1_uc003yfc.1_Intron|RUNX1T1_uc003yfe.1_Intron|RUNX1T1_uc010mao.2_Intron|RUNX1T1_uc011lgi.1_Intron|RUNX1T1_uc010man.1_Intron|RUNX1T1_uc003yfb.1_Intron	NM_175634	NP_783552			acute myelogenous leukemia 1 translocation 1						generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	93156235	93156235	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:93156235delT								RUNX1T1 (48529 upstream) : C8orf83 (739630 downstream)																																			---	---	---	---
RAD54B	25788	broad.mit.edu	37	8	95479469	95479469	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95479469delA	uc003ygk.2	-						RAD54B_uc003ygl.1_Intron|RAD54B_uc003ygn.1_Intron	NM_012415	NP_036547			RAD54 homolog B						double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			kidney(2)|lung(1)|skin(1)	4	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)										Direct_reversal_of_damage|Homologous_recombination					---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100819943	100819943	+	Intron	DEL	G	-	-	rs34184716		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100819943delG	uc003yiv.2	+						VPS13B_uc003yiw.2_Intron	NM_017890	NP_060360			vacuolar protein sorting 13B isoform 5						protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)															---	---	---	---
SPAG1	6674	broad.mit.edu	37	8	101206219	101206219	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101206219delA	uc003yjh.1	+						SPAG1_uc003yjg.1_Intron|SPAG1_uc003yji.1_Intron	NM_172218	NP_757367			sperm associated antigen 1						single fertilization	cytoplasm	GTP binding|hydrolase activity			ovary(2)|central_nervous_system(1)	3	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)														---	---	---	---
YWHAZ	7534	broad.mit.edu	37	8	101936665	101936665	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101936665delT	uc011lhe.1	-						YWHAZ_uc003yjv.2_Intron|YWHAZ_uc011lhf.1_Intron|YWHAZ_uc003yjw.2_Intron|YWHAZ_uc010mbq.2_Intron|YWHAZ_uc011lhg.1_Intron|YWHAZ_uc010mbr.2_Intron|YWHAZ_uc003yjx.2_Intron|YWHAZ_uc003yjy.2_Intron	NM_001135702	NP_001129174			tyrosine 3/tryptophan 5 -monooxygenase						anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding				0	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)													---	---	---	---
Unknown	0	broad.mit.edu	37	8	102061482	102061482	+	IGR	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:102061482delC								YWHAZ (95859 upstream) : ZNF706 (147786 downstream)																																			---	---	---	---
NCALD	83988	broad.mit.edu	37	8	102859464	102859464	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:102859464delT	uc003ykf.2	-						NCALD_uc003ykg.2_Intron|NCALD_uc003ykh.2_Intron|NCALD_uc003yki.2_Intron|NCALD_uc003ykj.2_Intron|NCALD_uc003ykk.2_Intron|NCALD_uc003ykl.2_Intron	NM_001040628	NP_001035718			neurocalcin delta						synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding				0	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)															---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103311358	103311358	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103311358delT	uc003ykr.1	-						UBR5_uc003yks.1_Intron	NM_015902	NP_056986			ubiquitin protein ligase E3 component n-recognin						cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)															---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103358988	103358988	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103358988delA	uc003ykr.1	-						UBR5_uc003yks.1_Intron	NM_015902	NP_056986			ubiquitin protein ligase E3 component n-recognin						cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	103487951	103487951	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103487951delT								UBR5 (63456 upstream) : ODF1 (75897 downstream)																																			---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106430781	106430782	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:106430781_106430782insA	uc003ymd.2	+							NM_012082	NP_036214			zinc finger protein, multitype 2						blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			ovary(4)|large_intestine(1)	5			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)															---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110448764	110448764	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110448764delG	uc003yne.2	+							NM_177531	NP_803875			fibrocystin L precursor						immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)												HNSCC(38;0.096)			---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110464253	110464254	+	Intron	INS	-	T	T	rs149400770	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110464253_110464254insT	uc003yne.2	+							NM_177531	NP_803875			fibrocystin L precursor						immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)												HNSCC(38;0.096)			---	---	---	---
Unknown	0	broad.mit.edu	37	8	111567845	111567845	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:111567845delT								KCNV1 (579769 upstream) : None (None downstream)																																			---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113293610	113293610	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113293610delA	uc003ynu.2	-						CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Intron|CSMD3_uc011lhx.1_Intron	NM_198123	NP_937756			CUB and Sushi multiple domains 3 isoform 1							integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---
RAD21	5885	broad.mit.edu	37	8	117866427	117866427	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:117866427delT	uc003yod.2	-							NM_006265	NP_006256			RAD21 homolog						apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			lung(1)|skin(1)	2	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)																	---	---	---	---
FBXO32	114907	broad.mit.edu	37	8	124516682	124516682	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124516682delC	uc003yqr.2	-						FBXO32_uc003yqq.2_Intron|FBXO32_uc010mdk.2_Intron	NM_058229	NP_478136			F-box only protein 32 isoform 1											skin(3)|breast(2)|lung(1)	6	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	127086266	127086266	+	IGR	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:127086266delC								TRIB1 (635624 upstream) : FAM84B (478421 downstream)																																			---	---	---	---
GSDMC	56169	broad.mit.edu	37	8	130777834	130777834	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:130777834delT	uc003ysr.2	-							NM_031415	NP_113603			melanoma-derived leucine zipper, extra-nuclear							mitochondrion				ovary(2)|skin(1)	3																		---	---	---	---
COL22A1	169044	broad.mit.edu	37	8	139727812	139727819	+	Intron	DEL	TAAAAAAA	-	-	rs143920292		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139727812_139727819delTAAAAAAA	uc003yvd.2	-						COL22A1_uc011ljo.1_Intron	NM_152888	NP_690848			collagen, type XXII, alpha 1						cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)												HNSCC(7;0.00092)			---	---	---	---
Unknown	0	broad.mit.edu	37	8	140059123	140059126	+	IGR	DEL	TTCC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:140059123_140059126delTTCC								COL22A1 (132887 upstream) : KCNK9 (553956 downstream)																																			---	---	---	---
PTK2	5747	broad.mit.edu	37	8	141843274	141843275	+	Intron	INS	-	A	A	rs141534503		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141843274_141843275insA	uc003yvu.2	-						PTK2_uc003yvq.2_Intron|PTK2_uc003yvr.2_Intron|PTK2_uc003yvs.2_Intron|PTK2_uc003yvt.2_Intron|PTK2_uc003yvv.2_Intron|PTK2_uc011ljr.1_Intron	NM_153831	NP_722560			PTK2 protein tyrosine kinase 2 isoform a						axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)															---	---	---	---
DENND3	22898	broad.mit.edu	37	8	142151514	142151514	+	Intron	DEL	G	-	-	rs147664697	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142151514delG	uc003yvy.2	+						DENND3_uc003yvw.1_3'UTR|DENND3_uc003yvx.2_Intron|DENND3_uc010mep.2_Intron	NM_014957	NP_055772			DENN/MADD domain containing 3											ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
Unknown	0	broad.mit.edu	37	8	142723793	142723795	+	IGR	DEL	TGG	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142723793_142723795delTGG								FLJ43860 (206463 upstream) : MIR1302-7 (143808 downstream)																																			---	---	---	---
OPLAH	26873	broad.mit.edu	37	8	145109979	145109979	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145109979delG	uc003zar.3	-	17	2444	c.2362delC	c.(2362-2364)CACfs	p.H788fs	OPLAH_uc003zas.1_Frame_Shift_Del_p.H37fs	NM_017570	NP_060040	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	788							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding				0	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)													---	---	---	---
DOCK8	81704	broad.mit.edu	37	9	316921	316921	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:316921delA	uc003zgf.2	+						DOCK8_uc011lls.1_Intron|DOCK8_uc010mgu.2_Intron|DOCK8_uc010mgv.2_Intron|DOCK8_uc003zgg.2_Intron|DOCK8_uc003zgh.2_Intron	NM_203447	NP_982272			dedicator of cytokinesis 8						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)														---	---	---	---
DOCK8	81704	broad.mit.edu	37	9	386225	386225	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:386225delA	uc003zgf.2	+						DOCK8_uc010mgu.2_Intron|DOCK8_uc010mgv.2_Intron|DOCK8_uc010mgw.1_Intron|DOCK8_uc003zgk.2_Intron	NM_203447	NP_982272			dedicator of cytokinesis 8						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)|central_nervous_system(3)	6		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)												OREG0019067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GLIS3	169792	broad.mit.edu	37	9	3879545	3879545	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:3879545delC	uc003zhw.1	-	7	1908	c.1714delG	c.(1714-1716)GCCfs	p.A572fs	GLIS3_uc003zhx.1_Frame_Shift_Del_p.A727fs|GLIS3_uc010mhf.1_Frame_Shift_Del_p.A121fs|GLIS3_uc003zhv.1_RNA|GLIS3_uc003zhy.1_Frame_Shift_Del_p.A505fs	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	572					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)														---	---	---	---
Unknown	0	broad.mit.edu	37	9	5311805	5311805	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:5311805delT								RLN2 (7225 upstream) : RLN1 (23164 downstream)																																			---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:6012690delT	uc003zjr.2	-	1	2929	c.2918delA	c.(2917-2919)AATfs	p.N973fs	RANBP6_uc011lmf.1_Frame_Shift_Del_p.N621fs|RANBP6_uc003zjs.2_Frame_Shift_Del_p.N561fs	NM_012416	NP_036548	O60518	RNBP6_HUMAN	RAN binding protein 6	973	HEAT 7.				protein transport	cytoplasm|nucleus	binding			ovary(3)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)														---	---	---	---
GLDC	2731	broad.mit.edu	37	9	6606478	6606478	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:6606478delA	uc003zkc.2	-							NM_000170	NP_000161			glycine dehydrogenase (decarboxylating)						glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)													---	---	---	---
PTPRD	5789	broad.mit.edu	37	9	8340245	8340245	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8340245delA	uc003zkk.2	-						PTPRD_uc003zkp.2_Intron|PTPRD_uc003zkq.2_Intron|PTPRD_uc003zkr.2_Intron|PTPRD_uc003zks.2_Intron|PTPRD_uc003zkl.2_Intron|PTPRD_uc003zkm.2_Intron|PTPRD_uc003zkn.2_Intron|PTPRD_uc003zko.2_Intron	NM_002839	NP_002830			protein tyrosine phosphatase, receptor type, D						transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)											TSP Lung(15;0.13)			---	---	---	---
Unknown	0	broad.mit.edu	37	9	13022215	13022216	+	IGR	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:13022215_13022216insT								C9orf150 (199157 upstream) : MPDZ (83493 downstream)																																			---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13113979	13113980	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:13113979_13113980delAG	uc010mhy.2	-	39	5471_5472	c.5420_5421delCT	c.(5419-5421)TCTfs	p.S1807fs	MPDZ_uc003zkx.3_Frame_Shift_Del_p.S72fs|MPDZ_uc003zky.3_Frame_Shift_Del_p.S370fs|MPDZ_uc010mib.2_Frame_Shift_Del_p.S541fs|MPDZ_uc010mhx.2_Frame_Shift_Del_p.S658fs|MPDZ_uc011lmm.1_Frame_Shift_Del_p.S695fs|MPDZ_uc003zkz.3_Frame_Shift_Del_p.S529fs|MPDZ_uc010mhz.2_Frame_Shift_Del_p.S1803fs|MPDZ_uc011lmn.1_Frame_Shift_Del_p.S1774fs|MPDZ_uc003zlb.3_Frame_Shift_Del_p.S1807fs	NM_003829	NP_003820	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1836	Ser-rich.				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)														---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13143347	13143348	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:13143347_13143348insT	uc010mia.1	-						MPDZ_uc010mhx.2_Intron|MPDZ_uc011lmm.1_Intron|MPDZ_uc003zkz.3_Intron|MPDZ_uc010mhy.2_Intron|MPDZ_uc010mhz.2_Intron|MPDZ_uc011lmn.1_Intron|MPDZ_uc003zlb.3_Intron	NM_003829	NP_003820			multiple PDZ domain protein						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)														---	---	---	---
C9orf93	203238	broad.mit.edu	37	9	15874514	15874515	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:15874514_15874515insT	uc003zmd.2	+						C9orf93_uc003zme.2_Intron|C9orf93_uc011lmu.1_Intron|C9orf93_uc003zmf.1_Intron	NM_173550	NP_775821			hypothetical protein LOC203238												0				GBM - Glioblastoma multiforme(50;4.84e-07)														---	---	---	---
PLIN2	123	broad.mit.edu	37	9	19118249	19118249	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19118249delA	uc003zno.2	-						PLIN2_uc011lna.1_Intron	NM_001122	NP_001113			adipose differentiation-related protein						cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				ovary(2)	2																		---	---	---	---
DENND4C	55667	broad.mit.edu	37	9	19342619	19342620	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19342619_19342620insT	uc003znq.2	+						DENND4C_uc011lnc.1_Intron|DENND4C_uc011lnd.1_Intron|DENND4C_uc003znr.2_Intron|DENND4C_uc003zns.2_5'Flank	NM_017925	NP_060395			DENN/MADD domain containing 4C							integral to membrane				ovary(1)|skin(1)	2																		---	---	---	---
KIAA1797	54914	broad.mit.edu	37	9	20758261	20758261	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:20758261delT	uc003zog.1	+							NM_017794	NP_060264			hypothetical protein LOC54914							integral to membrane	binding			ovary(8)|breast(1)|kidney(1)	10				GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11)														---	---	---	---
Unknown	0	broad.mit.edu	37	9	31645188	31645188	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:31645188delA								None (None upstream) : ACO1 (739413 downstream)																																			---	---	---	---
RECK	8434	broad.mit.edu	37	9	36112461	36112461	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36112461delA	uc003zyv.2	+	16	2134	c.2048delA	c.(2047-2049)CAAfs	p.Q683fs	RECK_uc003zyw.2_Frame_Shift_Del_p.Q555fs|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	683						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)															---	---	---	---
Unknown	0	broad.mit.edu	37	9	38643838	38643838	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:38643838delA								C9orf122 (20563 upstream) : CNTNAP3 (428928 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	9	40333104	40333105	+	IGR	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:40333104_40333105insT								FAM74A1 (425864 upstream) : FAM75A3 (367186 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	9	43840028	43840029	+	Intron	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:43840028_43840029delTT	uc004acz.1	+											Homo sapiens cDNA FLJ30083 fis, clone BGGI12001097, weakly similar to Homo sapiens contactin associated protein (Caspr) mRNA.																														---	---	---	---
Unknown	0	broad.mit.edu	37	9	44731110	44731110	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:44731110delA								None (None upstream) : FAM27C (259126 downstream)																																			---	---	---	---
TJP2	9414	broad.mit.edu	37	9	71836487	71836487	+	Intron	DEL	C	-	-	rs28625301		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:71836487delC	uc004ahe.2	+						TJP2_uc011lrs.1_Intron|TJP2_uc011lrt.1_Intron|TJP2_uc004ahd.2_Intron|TJP2_uc004ahf.2_Intron|TJP2_uc011lru.1_Intron|TJP2_uc011lrv.1_Intron	NM_004817	NP_004808			tight junction protein 2 (zona occludens 2)						cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding				0																		---	---	---	---
C9orf95	54981	broad.mit.edu	37	9	77698074	77698075	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77698074_77698075insA	uc004aju.2	-						C9orf95_uc004ajs.3_Intron|C9orf95_uc004ajr.3_Intron|C9orf95_uc004ajt.3_Intron	NM_017881	NP_060351			nicotinamide riboside kinase 1 isoform 1						pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|ribosylnicotinamide kinase activity				0																		---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78794417	78794417	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:78794417delA	uc004ajz.2	+						PCSK5_uc004aka.2_Intron|PCSK5_uc004akb.2_5'Flank	NM_006200	NP_006191			proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3																		---	---	---	---
PCSK5	5125	broad.mit.edu	37	9	78799576	78799576	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:78799576delT	uc004ajz.2	+						PCSK5_uc004aka.2_Intron|PCSK5_uc004akb.2_Intron	NM_006200	NP_006191			proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			ovary(2)|skin(1)	3																		---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79890728	79890728	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79890728delT	uc004akr.2	+						VPS13A_uc004akp.3_Intron|VPS13A_uc004akq.3_Intron|VPS13A_uc004aks.2_Intron	NM_033305	NP_150648			vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79996877	79996877	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79996877delT	uc004akr.2	+						VPS13A_uc004akp.3_Intron|VPS13A_uc004akq.3_Intron|VPS13A_uc004aks.2_Intron	NM_033305	NP_150648			vacuolar protein sorting 13A isoform A						Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---
TLE1	7088	broad.mit.edu	37	9	84202750	84202753	+	Intron	DEL	AAAC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84202750_84202753delAAAC	uc004aly.2	-						TLE1_uc004alz.2_Intron|TLE1_uc011lsr.1_Intron	NM_005077	NP_005068			transducin-like enhancer protein 1						negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			ovary(1)|skin(1)	2																		---	---	---	---
KIF27	55582	broad.mit.edu	37	9	86452186	86452186	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86452186delG	uc004ana.2	-	18	4080	c.3936delC	c.(3934-3936)CCCfs	p.P1312fs	KIF27_uc010mpw.2_Frame_Shift_Del_p.P1246fs|KIF27_uc010mpx.2_Frame_Shift_Del_p.P1215fs	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	1312					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5																		---	---	---	---
HNRNPK	3190	broad.mit.edu	37	9	86589414	86589414	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86589414delA	uc004ang.3	-						HNRNPK_uc011lsw.1_Intron|HNRNPK_uc004and.3_Intron|HNRNPK_uc004ank.3_Intron|HNRNPK_uc004anf.3_Intron|HNRNPK_uc004anh.3_Intron|HNRNPK_uc011lsx.1_Intron|HNRNPK_uc004ani.3_Intron|HNRNPK_uc004anj.3_Intron|HNRNPK_uc004ann.3_Intron|HNRNPK_uc004anl.3_Intron|HNRNPK_uc004anm.3_Intron	NM_031262	NP_112552			heterogeneous nuclear ribonucleoprotein K						interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			skin(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	9	88368144	88368144	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:88368144delA								AGTPBP1 (11200 upstream) : NAA35 (187913 downstream)																																			---	---	---	---
GOLM1	51280	broad.mit.edu	37	9	88650799	88650799	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:88650799delA	uc004aol.2	-						GOLM1_uc004aom.2_Intron	NM_016548	NP_057632			golgi membrane protein 1							Golgi apparatus|integral to plasma membrane					0																		---	---	---	---
Unknown	0	broad.mit.edu	37	9	94768868	94768868	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94768868delA								ROR2 (56424 upstream) : SPTLC1 (24552 downstream)																																			---	---	---	---
IARS	3376	broad.mit.edu	37	9	95050366	95050366	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95050366delA	uc004art.1	-						IARS_uc004ars.1_Intron|IARS_uc004aru.3_Intron|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Intron	NM_013417	NP_038203			isoleucine tRNA synthetase						isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			ovary(1)|skin(1)	2					L-Isoleucine(DB00167)													---	---	---	---
NOL8	55035	broad.mit.edu	37	9	95062437	95062437	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95062437delA	uc004arv.2	-						NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Intron	NM_017948	NP_060418			nucleolar protein 8						DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			ovary(1)	1																		---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98278828	98278829	+	5'UTR	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98278828_98278829insT	uc010mrr.2	-	1					PTCH1_uc004avm.3_Intron|PTCH1_uc004avo.2_5'UTR|PTCH1_uc010mrv.1_Intron|PTCH1_uc010mrw.1_RNA	NM_001083602	NP_001077071			patched isoform M						embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
CDC14B	8555	broad.mit.edu	37	9	99301319	99301319	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99301319delG	uc004awj.2	-						CDC14B_uc004awk.2_Intron|CDC14B_uc004awl.2_Intron|CDC14B_uc004awi.2_Intron	NM_033331	NP_201588			CDC14 homolog B isoform 2						activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(1)	1		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
C9orf21	195827	broad.mit.edu	37	9	99404181	99404183	+	Intron	DEL	AAG	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99404181_99404183delAAG	uc004awm.2	-							NM_153698	NP_714542			hypothetical protein LOC195827								antioxidant activity|oxidoreductase activity			large_intestine(1)	1		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
Unknown	0	broad.mit.edu	37	9	99918876	99918876	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:99918876delA								LOC340508 (74649 upstream) : ZNF322B (38757 downstream)																																			---	---	---	---
TDRD7	23424	broad.mit.edu	37	9	100235993	100235993	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100235993delT	uc004axj.2	+						TDRD7_uc011lux.1_Intron|TDRD7_uc010msp.1_Intron|TDRD7_uc011luy.1_Intron	NM_014290	NP_055105			tudor domain containing 7						lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			ovary(2)|pancreas(1)	3		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---
TMEFF1	8577	broad.mit.edu	37	9	103323954	103323954	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103323954delA	uc004baz.1	+						TMEFF1_uc004bay.1_Intron	NM_003692	NP_003683			transmembrane protein with EGF-like and two						multicellular organismal development	integral to membrane|plasma membrane					0		Acute lymphoblastic leukemia(62;0.0452)																---	---	---	---
MURC	347273	broad.mit.edu	37	9	103340768	103340768	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:103340768delA	uc004bba.2	+	1	433	c.343delA	c.(343-345)AAAfs	p.K115fs		NM_001018116	NP_001018126	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	115					cell differentiation|muscle organ development|transcription, DNA-dependent					ovary(1)	1		Acute lymphoblastic leukemia(62;0.0461)																---	---	---	---
ABCA1	19	broad.mit.edu	37	9	107568388	107568388	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107568388delA	uc004bcl.2	-							NM_005502	NP_005493			ATP-binding cassette, sub-family A member 1						Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---
PALM2-AKAP2	445815	broad.mit.edu	37	9	112704882	112704882	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112704882delT	uc004bei.2	+						PALM2_uc004bef.2_Intron|PALM2_uc004beg.2_Intron|PALM2_uc004beh.3_Intron|PALM2-AKAP2_uc004bek.3_Intron|PALM2-AKAP2_uc004bej.3_Intron|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034			A kinase (PRKA) anchor protein 2 isoform 2								enzyme binding			ovary(3)|central_nervous_system(2)|skin(1)	6																		---	---	---	---
SUSD1	64420	broad.mit.edu	37	9	114874937	114874938	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:114874937_114874938insA	uc004bfu.2	-						SUSD1_uc010mui.2_Intron|SUSD1_uc010muj.2_Intron	NM_022486	NP_071931			sushi domain containing 1 precursor							integral to membrane	calcium ion binding				0																		---	---	---	---
C9orf80	58493	broad.mit.edu	37	9	115451949	115451949	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:115451949delT	uc004bgg.2	-						C9orf80_uc010muk.2_Intron	NM_021218	NP_067041			SOSSC protein						DNA repair|response to ionizing radiation	SOSS complex	protein binding				0																		---	---	---	---
PBX3	5090	broad.mit.edu	37	9	128728156	128728158	+	In_Frame_Del	DEL	CTC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:128728156_128728158delCTC	uc004bqb.2	+	9	1375_1377	c.1259_1261delCTC	c.(1258-1263)TCTCCT>TCT	p.P421del	PBX3_uc004bqc.2_In_Frame_Del_p.P240del|PBX3_uc004bqd.2_3'UTR|PBX3_uc011lzw.1_In_Frame_Del_p.P346del|PBX3_uc011lzx.1_3'UTR|PBX3_uc004bqe.2_In_Frame_Del_p.P329del	NM_006195	NP_006186	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3 isoform 1	421					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
FAM129B	64855	broad.mit.edu	37	9	130289640	130289640	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130289640delG	uc004brh.2	-						FAM129B_uc004bri.2_Intron|FAM129B_uc004brj.3_Intron	NM_022833	NP_073744			hypothetical protein LOC64855 isoform 1								protein binding				0																		---	---	---	---
ENG	2022	broad.mit.edu	37	9	130589059	130589060	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130589059_130589060delAA	uc004bsj.3	-						ENG_uc011mam.1_Intron|ENG_uc004bsk.3_Intron	NM_001114753	NP_001108225			endoglin isoform 1 precursor						artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding				0														Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				---	---	---	---
GOLGA2	2801	broad.mit.edu	37	9	131019151	131019151	+	3'UTR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131019151delT	uc011maw.1	-	26					GOLGA2_uc010mxw.2_3'UTR|uc004bui.2_5'Flank	NM_004486	NP_004477			Golgi autoantigen, golgin subfamily a, 2							Golgi cisterna membrane	protein binding			ovary(1)	1																		---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131711580	131711580	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131711580delA	uc004bws.1	+						NUP188_uc004bwq.1_Intron|DOLK_uc004bwr.2_5'Flank	NM_015354	NP_056169			nucleoporin 188kDa						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																		---	---	---	---
USP20	10868	broad.mit.edu	37	9	132635698	132635699	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132635698_132635699insT	uc004bys.2	+						USP20_uc004byr.2_Intron|USP20_uc004byt.1_Intron	NM_001110303	NP_001103773			ubiquitin specific protease 20						endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)																---	---	---	---
FNBP1	23048	broad.mit.edu	37	9	132678318	132678318	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132678318delA	uc004byw.1	-						FNBP1_uc011mbv.1_Intron|FNBP1_uc011mbw.1_Intron|FNBP1_uc004bza.2_Intron|FNBP1_uc004byz.1_Intron|FNBP1_uc011mbu.1_Intron|FNBP1_uc004byx.1_Intron|FNBP1_uc004byy.1_Intron	NM_015033	NP_055848			formin binding protein 1						endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding				0		Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)				T	MLL	AML								---	---	---	---
FIBCD1	84929	broad.mit.edu	37	9	133799256	133799256	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133799256delG	uc004bzz.2	-	4	969	c.724delC	c.(724-726)CGAfs	p.R242fs	FIBCD1_uc011mcc.1_Frame_Shift_Del_p.R242fs	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	242	Fibrinogen C-terminal.|Extracellular (Potential).				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding				0	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)														---	---	---	---
BAT2L1	84726	broad.mit.edu	37	9	134322049	134322049	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134322049delT	uc004can.3	+						BAT2L1_uc010mzj.1_5'Flank|BAT2L1_uc004cam.1_Intron	NM_013318	NP_037450			HLA-B associated transcript 2-like								protein binding				0																		---	---	---	---
C9orf171	389799	broad.mit.edu	37	9	135357575	135357575	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135357575delT	uc004cbn.2	+						C9orf171_uc004cbo.2_Intron	NM_207417	NP_997300			hypothetical protein LOC389799											ovary(4)|large_intestine(1)	5																		---	---	---	---
BARHL1	56751	broad.mit.edu	37	9	135459571	135459571	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135459571delA	uc004cbp.1	+							NM_020064	NP_064448			BarH-like homeobox 1							nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)														---	---	---	---
VAV2	7410	broad.mit.edu	37	9	136642340	136642340	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136642340delC	uc004ces.2	-						VAV2_uc004cer.2_Intron|VAV2_uc004cet.1_Intron	NM_001134398	NP_001127870			vav 2 guanine nucleotide exchange factor isoform						angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)														---	---	---	---
Unknown	0	broad.mit.edu	37	9	138016546	138016549	+	IGR	DEL	AAAC	-	-	rs71979181		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138016546_138016549delAAAC								OLFM1 (3515 upstream) : KIAA0649 (355099 downstream)																																			---	---	---	---
PNPLA7	375775	broad.mit.edu	37	9	140396079	140396079	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140396079delC	uc004cnf.2	-						C9orf167_uc011mew.1_Intron|PNPLA7_uc011mfa.1_Intron|PNPLA7_uc010ncj.1_Intron	NM_152286	NP_689499			patatin-like phospholipase domain containing 7						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)														---	---	---	---
PFKP	5214	broad.mit.edu	37	10	3178158	3178158	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:3178158delA	uc001igp.2	+						PFKP_uc001igq.2_Intron|PFKP_uc009xhr.2_Intron|PFKP_uc009xht.2_Intron|PFKP_uc009xhu.2_Intron	NM_002627	NP_002618			phosphofructokinase, platelet						glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)														---	---	---	---
KIN	22944	broad.mit.edu	37	10	7817765	7817765	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7817765delA	uc001ijt.2	-						KIN_uc010qaz.1_Intron|KIN_uc009xip.2_Intron|KIN_uc010qba.1_Intron	NM_012311	NP_036443			HsKin17 protein						DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
C10orf47	254427	broad.mit.edu	37	10	11911605	11911605	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:11911605delC	uc001ikx.2	+	4	662	c.508delC	c.(508-510)CCCfs	p.P170fs	uc001iky.1_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	hypothetical protein LOC254427	170	Pro-rich.									central_nervous_system(1)	1																		---	---	---	---
SEC61A2	55176	broad.mit.edu	37	10	12178241	12178241	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:12178241delT	uc001ile.2	+						SEC61A2_uc010qbq.1_Intron|SEC61A2_uc001ilf.3_Intron|SEC61A2_uc001ilh.3_Intron|SEC61A2_uc001ilg.3_Intron	NM_018144	NP_060614			Sec61 alpha form 2 isoform a							endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			ovary(1)	1		Renal(717;0.228)																---	---	---	---
CDC123	8872	broad.mit.edu	37	10	12238394	12238394	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:12238394delA	uc001ill.2	+						NUDT5_uc001ilj.2_5'Flank|NUDT5_uc001ilk.2_5'Flank|CDC123_uc009xja.2_Intron|CDC123_uc001ilm.2_Intron	NM_006023	NP_006014			cell division cycle 123						cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)	1																		---	---	---	---
STAM	8027	broad.mit.edu	37	10	17756958	17756959	+	3'UTR	INS	-	C	C	rs3832661		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:17756958_17756959insC	uc001ipj.1	+	14					STAM_uc009xjw.1_3'UTR	NM_003473	NP_003464			signal transducing adaptor molecule 1						cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			large_intestine(1)|ovary(1)	2																		---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27318300	27318300	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27318300delA	uc001ith.2	-						ANKRD26_uc001itg.2_Intron|ANKRD26_uc009xku.1_Intron	NM_014915	NP_055730			ankyrin repeat domain 26							centrosome				large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1)	4																		---	---	---	---
MASTL	84930	broad.mit.edu	37	10	27470152	27470152	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27470152delA	uc001itm.2	+						MASTL_uc001itl.2_Intron|MASTL_uc009xkw.1_Intron|MASTL_uc009xkx.1_Intron	NM_032844	NP_116233			microtubule associated serine/threonine						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																		---	---	---	---
SVIL	6840	broad.mit.edu	37	10	29819390	29819390	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29819390delT	uc001iut.1	-						SVIL_uc001iuu.1_Intron	NM_021738	NP_068506			supervillin isoform 2						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)																---	---	---	---
MTPAP	55149	broad.mit.edu	37	10	30611196	30611196	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:30611196delA	uc001iva.3	-						MTPAP_uc001ivb.3_Intron	NM_018109	NP_060579			PAP associated domain containing 1 precursor						cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			ovary(1)	1																		---	---	---	---
KIF5B	3799	broad.mit.edu	37	10	32329483	32329483	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:32329483delA	uc001iwe.3	-							NM_004521	NP_004512			kinesin family member 5B						stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(4)	lung(4)|ovary(1)	5		Prostate(175;0.0137)																---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34572884	34572884	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:34572884delT	uc010qej.1	-						PARD3_uc010qek.1_Intron|PARD3_uc010qel.1_Intron|PARD3_uc010qem.1_Intron|PARD3_uc010qen.1_Intron|PARD3_uc010qeo.1_Intron|PARD3_uc010qep.1_Intron|PARD3_uc010qeq.1_Intron	NM_019619	NP_062565			partitioning-defective protein 3 homolog						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)																---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43279739	43279739	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43279739delT	uc001jaj.2	+							NM_014753	NP_055568			BMS1-like, ribosome assembly protein						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
ANUBL1	93550	broad.mit.edu	37	10	46121400	46121400	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:46121400delA	uc001jcp.3	-	7	2113	c.1871delT	c.(1870-1872)TTGfs	p.L624fs	ANUBL1_uc001jcl.3_Frame_Shift_Del_p.L144fs|ANUBL1_uc001jcm.3_Frame_Shift_Del_p.L624fs|ANUBL1_uc009xmu.2_Frame_Shift_Del_p.L550fs|ANUBL1_uc001jcn.3_Frame_Shift_Del_p.L550fs|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	624							zinc ion binding				0																		---	---	---	---
FAM21C	253725	broad.mit.edu	37	10	46238682	46238682	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:46238682delT	uc001jcu.2	+						FAM21C_uc001jcs.1_Intron|FAM21C_uc001jct.2_Intron|FAM21C_uc010qfi.1_Intron	NM_015262	NP_056077			hypothetical protein LOC253725											ovary(1)	1																		---	---	---	---
PARG	8505	broad.mit.edu	37	10	51581255	51581255	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:51581255delT	uc001jih.2	-						uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Intron|NCOA4_uc010qhd.1_Intron|NCOA4_uc001jis.3_Intron|NCOA4_uc010qhe.1_Intron|NCOA4_uc010qhf.1_Intron|NCOA4_uc001jit.2_Intron|NCOA4_uc009xoo.2_Intron	NM_003631	NP_003622			poly (ADP-ribose) glycohydrolase						carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity			ovary(2)	2				Epithelial(53;0.213)														---	---	---	---
AGAP6	414189	broad.mit.edu	37	10	51768242	51768242	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:51768242delT	uc001jix.3	+							NM_001077665	NP_001071133			ArfGAP with GTPase domain, ankyrin repeat and PH						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			skin(1)	1																		---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60273190	60273193	+	Intron	DEL	CGGC	-	-	rs10571555		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:60273190_60273193delCGGC	uc001jki.1	+							NM_001080512	NP_001073981			bicaudal C homolog 1						multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
BICC1	80114	broad.mit.edu	37	10	60546935	60546935	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:60546935delA	uc001jki.1	+							NM_001080512	NP_001073981			bicaudal C homolog 1						multicellular organismal development		RNA binding			ovary(2)|lung(1)|skin(1)	4																		---	---	---	---
ANK3	288	broad.mit.edu	37	10	61844823	61844823	+	Intron	DEL	T	-	-	rs143030307	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:61844823delT	uc001jky.2	-						ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jla.1_Intron|ANK3_uc001jlb.1_Intron|ANK3_uc001jkv.2_5'Flank	NM_020987	NP_066267			ankyrin 3 isoform 1						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19																		---	---	---	---
CDK1	983	broad.mit.edu	37	10	62545408	62545408	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:62545408delT	uc001jld.2	+						CDK1_uc010qii.1_Intron|CDK1_uc001jle.2_Intron|CDK1_uc001jlf.2_Intron|CDK1_uc001jlg.2_Intron	NM_001786	NP_001777			cell division cycle 2 isoform 1						activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|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|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1																		---	---	---	---
JMJD1C	221037	broad.mit.edu	37	10	64960289	64960289	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:64960289delT	uc001jmn.2	-	11	5523	c.5223delA	c.(5221-5223)AAAfs	p.K1741fs	JMJD1C_uc001jml.2_Frame_Shift_Del_p.K1522fs|JMJD1C_uc001jmm.2_Frame_Shift_Del_p.K1453fs|JMJD1C_uc010qiq.1_Frame_Shift_Del_p.K1559fs|JMJD1C_uc009xpi.2_Frame_Shift_Del_p.K1559fs|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc009xpk.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	jumonji domain containing 1C isoform a	1741					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			ovary(4)|breast(1)|central_nervous_system(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)																	---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70136913	70136913	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70136913delT	uc001job.2	-						RUFY2_uc001jnz.1_Intron|RUFY2_uc001joa.2_5'UTR	NM_017987	NP_060457			RUN and FYVE domain-containing 2 isoform a							nucleus	metal ion binding			ovary(1)	1																		---	---	---	---
TET1	80312	broad.mit.edu	37	10	70392079	70392079	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70392079delA	uc001jok.3	+							NM_030625	NP_085128			CXXC finger 6						DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9																		---	---	---	---
SUPV3L1	6832	broad.mit.edu	37	10	70951391	70951391	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70951391delT	uc001jpe.1	+						SUPV3L1_uc010qjd.1_Intron	NM_003171	NP_003162			suppressor of var1, 3-like 1 precursor						DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			urinary_tract(1)|ovary(1)	2																		---	---	---	---
HKDC1	80201	broad.mit.edu	37	10	70998962	70998962	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70998962delG	uc001jpf.3	+						HKDC1_uc010qje.1_Intron	NM_025130	NP_079406			hexokinase domain containing 1						glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			ovary(4)|skin(1)	5																		---	---	---	---
HK1	3098	broad.mit.edu	37	10	71144462	71144463	+	Intron	INS	-	GT	GT			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71144462_71144463insGT	uc001jpl.3	+						HK1_uc001jpg.3_Intron|HK1_uc001jph.3_Intron|HK1_uc001jpi.3_Intron|HK1_uc001jpj.3_Intron|HK1_uc001jpk.3_Intron|HK1_uc009xqd.2_Intron	NM_000188	NP_000179			hexokinase 1 isoform HKI						glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			ovary(1)	1																		---	---	---	---
COL13A1	1305	broad.mit.edu	37	10	71647093	71647093	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71647093delC	uc001jpr.1	+						COL13A1_uc001jqj.1_Intron|COL13A1_uc001jps.1_Intron|COL13A1_uc001jpt.1_Intron|COL13A1_uc001jpu.1_Intron|COL13A1_uc001jpv.1_Intron|COL13A1_uc001jpx.1_Intron|COL13A1_uc001jpw.1_Intron|COL13A1_uc001jpy.1_Intron|COL13A1_uc001jpz.1_Intron|COL13A1_uc001jqa.1_Intron|COL13A1_uc001jqc.1_Intron|COL13A1_uc001jqb.1_Intron|COL13A1_uc001jql.2_Intron|COL13A1_uc001jqd.1_Intron|COL13A1_uc001jqe.1_Intron|COL13A1_uc001jqf.1_Intron|COL13A1_uc001jqg.1_Intron|COL13A1_uc001jqh.1_Intron|COL13A1_uc001jqi.1_Intron|COL13A1_uc010qjf.1_Intron|COL13A1_uc001jqk.1_Intron	NM_005203	NP_005194			alpha 1 type XIII collagen isoform 1						cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			ovary(1)	1					Atorvastatin(DB01076)|Simvastatin(DB00641)													---	---	---	---
PSAP	5660	broad.mit.edu	37	10	73594296	73594296	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73594296delT	uc001jsm.2	-							NM_002778	NP_002769			prosaposin isoform a preproprotein						glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			ovary(1)	1																		---	---	---	---
ASCC1	51008	broad.mit.edu	37	10	73949561	73949566	+	Intron	DEL	AAAAAA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73949561_73949566delAAAAAA	uc001jst.1	-						ASCC1_uc001jsr.1_Intron|ASCC1_uc001jss.1_Intron|ASCC1_uc001jsu.1_Intron|ASCC1_uc010qju.1_Intron					RecName: Full=Activating signal cointegrator 1 complex subunit 1; AltName: Full=ASC-1 complex subunit p50; AltName: Full=Trip4 complex subunit p50;						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding				0																		---	---	---	---
VDAC2	7417	broad.mit.edu	37	10	76989625	76989625	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:76989625delT	uc001jwz.2	+						VDAC2_uc010qld.1_Intron|VDAC2_uc001jxa.2_Intron|VDAC2_uc010qle.1_Intron	NM_003375	NP_003366			voltage-dependent anion channel 2							mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)													---	---	---	---
KCNMA1	3778	broad.mit.edu	37	10	78869920	78869920	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:78869920delT	uc001jxn.2	-						KCNMA1_uc001jxj.2_Intron|KCNMA1_uc001jxk.1_Intron|KCNMA1_uc009xrt.1_Intron|KCNMA1_uc001jxl.1_Intron|KCNMA1_uc001jxo.2_Intron|KCNMA1_uc001jxm.2_Intron|KCNMA1_uc001jxq.2_Intron	NM_001161352	NP_001154824			large conductance calcium-activated potassium						cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)													---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79603069	79603069	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79603069delA	uc001jzk.2	-						DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_Intron|DLG5_uc001jzl.3_5'Flank	NM_004747	NP_004738			discs large homolog 5						cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)															---	---	---	---
MBL1P	8512	broad.mit.edu	37	10	81680656	81680656	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:81680656delA	uc001kbf.2	+						MBL1P_uc001kbg.1_RNA					Homo sapiens mannose-binding protein-A pseudogene (MBL1P1) mRNA sequence.												0																		---	---	---	---
BMPR1A	657	broad.mit.edu	37	10	88614691	88614691	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88614691delT	uc001kdy.2	+							NM_004329	NP_004320			bone morphogenetic protein receptor, type IA						BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			lung(3)|large_intestine(1)|stomach(1)|central_nervous_system(1)|breast(1)|kidney(1)	8								Mis|N|F			gastrointestinal polyps			Hereditary_Mixed_Polyposis_syndrome_type_2|Juvenile_Polyposis				---	---	---	---
AGAP11	119385	broad.mit.edu	37	10	88753100	88753100	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:88753100delT	uc001kee.2	+						AGAP11_uc001kef.2_5'Flank	NM_133447	NP_597704			ankyrin repeat and GTPase domain Arf GTPase						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0																		---	---	---	---
ATAD1	84896	broad.mit.edu	37	10	89514658	89514658	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89514658delA	uc001key.1	-						ATAD1_uc010qmr.1_Intron|ATAD1_uc009xth.1_Intron|ATAD1_uc001kez.1_Intron	NM_032810	NP_116199			ATPase family, AAA domain containing 1							peroxisome	ATP binding|nucleoside-triphosphatase activity			large_intestine(1)|ovary(1)	2		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)														---	---	---	---
ACTA2	59	broad.mit.edu	37	10	90697897	90697897	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:90697897delC	uc001kfp.2	-	8	1027	c.911delG	c.(910-912)GGCfs	p.G304fs	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.1_Frame_Shift_Del_p.G259fs|ACTA2_uc001kfq.2_Frame_Shift_Del_p.G304fs|uc001kfo.1_Intron	NM_001613	NP_001604	P62736	ACTA_HUMAN	alpha 2 actin	304					response to virus	cytosol	ATP binding				0		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)														---	---	---	---
KIF20B	9585	broad.mit.edu	37	10	91483917	91483917	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:91483917delT	uc001kgs.1	+						KIF20B_uc001kgr.1_Intron|KIF20B_uc001kgt.1_Intron	NM_016195	NP_057279			M-phase phosphoprotein 1						cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
KIF20B	9585	broad.mit.edu	37	10	91528672	91528672	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:91528672delT	uc001kgs.1	+						KIF20B_uc001kgr.1_Intron|KIF20B_uc001kgt.1_Intron|KIF20B_uc009xtw.1_Intron	NM_016195	NP_057279			M-phase phosphoprotein 1						cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
IDE	3416	broad.mit.edu	37	10	94267783	94267784	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:94267783_94267784insA	uc001kia.2	-							NM_004969	NP_004960			insulin-degrading enzyme isoform 1 precursor						beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			ovary(2)|central_nervous_system(1)	3					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---
PDE6C	5146	broad.mit.edu	37	10	95382046	95382046	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95382046delT	uc001kiu.3	+							NM_006204	NP_006195			phosphodiesterase 6C						visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			ovary(2)|kidney(1)|skin(1)	4		Colorectal(252;0.123)																---	---	---	---
C10orf4	118924	broad.mit.edu	37	10	95452279	95452279	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95452279delT	uc001kiz.1	-						C10orf4_uc001kiv.1_Intron|C10orf4_uc001kja.1_Intron|C10orf4_uc001kjb.1_Intron|C10orf4_uc009xuh.1_3'UTR	NM_145246	NP_660289			FRA10AC1 protein							nucleus	protein binding				0		Colorectal(252;0.122)																---	---	---	---
MMS19	64210	broad.mit.edu	37	10	99221731	99221732	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99221731_99221732delAA	uc001kns.3	-						MMS19_uc001knq.2_5'Flank|MMS19_uc009xvs.2_Intron|MMS19_uc009xvt.2_Intron|MMS19_uc001knr.2_Intron|MMS19_uc010qox.1_Intron|MMS19_uc001knt.2_Intron|MMS19_uc001knu.1_Intron	NM_022362	NP_071757			MMS19 nucleotide excision repair homolog						chromosome segregation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent|two-component signal transduction system (phosphorelay)	cytoplasm|holo TFIIH complex|MMXD complex	estrogen receptor binding|protein binding, bridging|receptor signaling complex scaffold activity|transcription coactivator activity				0		Colorectal(252;0.0846)		Epithelial(162;3.33e-10)|all cancers(201;2.74e-08)									Direct_reversal_of_damage|NER					---	---	---	---
CPN1	1369	broad.mit.edu	37	10	101808725	101808725	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:101808725delT	uc001kql.2	-							NM_001308	NP_001299			carboxypeptidase N, polypeptide 1 precursor						proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(3)|pancreas(1)	4		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)														---	---	---	---
NT5C2	22978	broad.mit.edu	37	10	104858754	104858754	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104858754delA	uc001kwo.2	-						NT5C2_uc010qqp.1_Intron|NT5C2_uc001kwq.2_Intron|NT5C2_uc001kwp.2_Intron	NM_012229	NP_036361			5'-nucleotidase, cytosolic II						purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding				0		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)													---	---	---	---
C10orf79	80217	broad.mit.edu	37	10	105945708	105945708	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105945708delT	uc001kxw.2	-						C10orf79_uc009xxq.2_Intron|C10orf79_uc001kxx.3_Intron	NM_025145	NP_079421			hypothetical protein LOC80217												0		Colorectal(252;0.178)		Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194)														---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108448161	108448162	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:108448161_108448162insA	uc001kym.2	-						SORCS1_uc001kyl.2_Intron|SORCS1_uc009xxs.2_Intron|SORCS1_uc001kyn.1_Intron|SORCS1_uc001kyo.2_Intron	NM_052918	NP_443150			SORCS receptor 1 isoform a							integral to membrane	neuropeptide receptor activity|protein binding			breast(1)|central_nervous_system(1)	2		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)														---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112343477	112343477	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112343477delA	uc001kze.2	+							NM_005445	NP_005436			structural maintenance of chromosomes 3						cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)														---	---	---	---
TCF7L2	6934	broad.mit.edu	37	10	114918414	114918415	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:114918414_114918415insT	uc001lae.3	+						TCF7L2_uc001lac.3_Intron|TCF7L2_uc010qrk.1_Intron|TCF7L2_uc010qrl.1_Intron|TCF7L2_uc010qrm.1_Intron|TCF7L2_uc010qrn.1_Intron|TCF7L2_uc001lad.3_Intron|TCF7L2_uc001lag.3_Intron|TCF7L2_uc001laf.3_Intron|TCF7L2_uc010qro.1_Intron|TCF7L2_uc001lah.2_Intron|TCF7L2_uc010qrp.1_Intron|TCF7L2_uc010qrq.1_Intron|TCF7L2_uc010qrr.1_Intron|TCF7L2_uc010qrs.1_Intron|TCF7L2_uc010qrt.1_Intron|TCF7L2_uc010qru.1_Intron|TCF7L2_uc010qrv.1_Intron|TCF7L2_uc010qrw.1_Intron|TCF7L2_uc010qrx.1_Intron	NM_001146274	NP_001139746			transcription factor 7-like 2 isoform 1						anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(3)|ovary(1)	4		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)														---	---	---	---
C10orf81	79949	broad.mit.edu	37	10	115534854	115534854	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115534854delT	uc001lat.1	+						C10orf81_uc001lar.1_Intron|C10orf81_uc009xyc.1_Intron|C10orf81_uc001las.1_Intron|C10orf81_uc001lau.1_Intron	NM_024889	NP_079165			hypothetical protein LOC79949											central_nervous_system(1)	1		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)														---	---	---	---
TDRD1	56165	broad.mit.edu	37	10	115964435	115964435	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115964435delT	uc001lbg.1	+						TDRD1_uc001lbf.2_Intron|TDRD1_uc001lbh.1_Intron|TDRD1_uc001lbi.1_Intron|TDRD1_uc010qsc.1_Intron|TDRD1_uc001lbj.2_Intron	NM_198795	NP_942090			tudor domain containing 1						DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)														---	---	---	---
FAM160B1	57700	broad.mit.edu	37	10	116603072	116603072	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:116603072delT	uc001lcb.2	+						FAM160B1_uc001lcc.2_Intron	NM_020940	NP_065991			hypothetical protein LOC57700 isoform a											lung(1)	1																		---	---	---	---
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396277	+	Intron	DEL	G	-	-	rs148140777	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:118396277delG	uc001lcq.2	+						PNLIPRP2_uc009xyv.1_Intron	NM_005396	NP_005387			pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			large_intestine(1)	1				all cancers(201;0.015)														---	---	---	---
SLC18A2	6571	broad.mit.edu	37	10	119026448	119026448	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:119026448delA	uc001ldd.1	+						SLC18A2_uc009xyy.1_Intron	NM_003054	NP_003045			solute carrier family 18 (vesicular monoamine),						neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity				0		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)													---	---	---	---
Unknown	0	broad.mit.edu	37	10	121443038	121443038	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:121443038delA								BAG3 (5711 upstream) : INPP5F (42571 downstream)																																			---	---	---	---
ATE1	11101	broad.mit.edu	37	10	123659524	123659524	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123659524delA	uc001lfp.2	-						ATE1_uc001lfq.2_Intron|ATE1_uc010qtr.1_Intron|ATE1_uc010qts.1_Intron|ATE1_uc010qtt.1_Intron|ATE1_uc001lfr.2_Intron|ATE1_uc009xzu.2_Intron	NM_007041	NP_008972			arginyltransferase 1 isoform 2						protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity				0		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)																---	---	---	---
FANK1	92565	broad.mit.edu	37	10	127697969	127697969	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127697969delA	uc001ljh.3	+	11	1104	c.1000delA	c.(1000-1002)AAAfs	p.K334fs	FANK1_uc009yan.2_Frame_Shift_Del_p.K360fs|FANK1_uc001lji.2_3'UTR	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains	334						cytoplasm|nucleus				ovary(1)	1		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)																---	---	---	---
ADAM8	101	broad.mit.edu	37	10	135076765	135076766	+	Intron	INS	-	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:135076765_135076766insG	uc010qva.1	-						ADAM8_uc010quz.1_Intron|ADAM8_uc009ybi.2_Intron					SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8);						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)														---	---	---	---
DEAF1	10522	broad.mit.edu	37	11	678538	678539	+	Intron	DEL	AT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:678538_678539delAT	uc001lqq.1	-						DEAF1_uc009ycf.1_Intron	NM_021008	NP_066288			deformed epidermal autoregulatory factor 1						embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)														---	---	---	---
Unknown	0	broad.mit.edu	37	11	1361104	1361105	+	IGR	DEL	AG	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1361104_1361105delAG								TOLLIP (30265 upstream) : BRSK2 (50024 downstream)																																			---	---	---	---
FAM160A2	84067	broad.mit.edu	37	11	6240283	6240283	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6240283delG	uc001mcl.3	-						FAM160A2_uc001mck.3_Intron|FAM160A2_uc001mcm.2_Intron	NM_001098794	NP_001092264			hypothetical protein LOC84067 isoform 2						early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			skin(2)	2																		---	---	---	---
MRVI1	10335	broad.mit.edu	37	11	10631402	10631402	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10631402delA	uc010rcc.1	-						MRVI1_uc001miw.2_Intron|MRVI1_uc010rcb.1_Intron|MRVI1_uc009ygb.1_Intron|MRVI1_uc001mix.2_Intron|MRVI1_uc001miz.2_Intron|MRVI1_uc009ygc.1_Intron|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_Intron|MRVI1_uc010rce.1_Intron	NM_001100167	NP_001093637			JAW1-related protein isoform c						platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				ovary(2)|central_nervous_system(1)	3				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)														---	---	---	---
EIF4G2	1982	broad.mit.edu	37	11	10822385	10822385	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10822385delA	uc001mjc.2	-						EIF4G2_uc001mjb.2_Intron|EIF4G2_uc009ygf.2_Intron|EIF4G2_uc001mjd.2_Intron	NM_001418	NP_001409			eukaryotic translation initiation factor 4						cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)														---	---	---	---
COPB1	1315	broad.mit.edu	37	11	14480057	14480058	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14480057_14480058insA	uc001mli.2	-						COPB1_uc001mlg.2_Intron|COPB1_uc001mlh.2_Intron	NM_016451	NP_057535			coatomer protein complex, subunit beta 1						COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
LUZP2	338645	broad.mit.edu	37	11	25004661	25004661	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:25004661delT	uc001mqs.2	+						LUZP2_uc009yif.2_Intron|LUZP2_uc009yig.2_Intron	NM_001009909	NP_001009909			leucine zipper protein 2 precursor							extracellular region				ovary(1)|skin(1)	2																		---	---	---	---
CCDC34	91057	broad.mit.edu	37	11	27371790	27371791	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:27371790_27371791insT	uc001mrh.1	-						CCDC34_uc001mri.1_3'UTR	NM_030771	NP_110398			coiled-coil domain containing 34 isoform 1												0																		---	---	---	---
WT1	7490	broad.mit.edu	37	11	32450245	32450245	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:32450245delG	uc001mtn.1	-						WT1_uc001mtl.1_Intron|WT1_uc001mtm.1_Intron|WT1_uc001mto.1_Intron|WT1_uc001mtp.1_Intron|WT1_uc001mtq.1_Intron|WT1_uc009yjs.1_Intron	NM_024426	NP_077744			Wilms tumor 1 isoform D						adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(231)	haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1)	687	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)					D|Mis|N|F|S	EWSR1	Wilms|desmoplastic small round cell tumor	Wilms			Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation				---	---	---	---
PAMR1	25891	broad.mit.edu	37	11	35457302	35457302	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35457302delA	uc001mwg.2	-						PAMR1_uc001mwf.2_Intron|PAMR1_uc010rew.1_Intron|PAMR1_uc010rex.1_Intron	NM_001001991	NP_001001991			regeneration associated muscle protease isoform						proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---
TRAF6	7189	broad.mit.edu	37	11	36511366	36511366	+	3'UTR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:36511366delT	uc001mwr.1	-	8					uc001mwq.1_5'Flank|TRAF6_uc001mws.1_3'UTR	NM_145803	NP_665802			TNF receptor-associated factor 6						activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)	1	all_lung(20;0.211)	all_hematologic(20;0.107)																---	---	---	---
Unknown	0	broad.mit.edu	37	11	43283606	43283608	+	RNA	DEL	AAA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43283606_43283608delAAA	uc001mxe.1	-	2		c.1328_1330delTTT								Homo sapiens cDNA FLJ44864 fis, clone BRALZ2013621, moderately similar to Heterogeneous nuclear ribonucleoprotein K.																														---	---	---	---
HSD17B12	51144	broad.mit.edu	37	11	43740331	43740331	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43740331delA	uc001mxq.3	+						HSD17B12_uc001mxp.2_Intron	NM_016142	NP_057226			hydroxysteroid (17-beta) dehydrogenase 12						long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity				0																		---	---	---	---
AMBRA1	55626	broad.mit.edu	37	11	46515758	46515758	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46515758delA	uc010rgu.1	-						AMBRA1_uc010rgt.1_Intron|AMBRA1_uc009ylc.1_Intron|AMBRA1_uc001ncu.1_Intron|AMBRA1_uc001ncv.2_Intron|AMBRA1_uc001ncw.2_Intron|AMBRA1_uc001ncx.2_Intron	NM_017749	NP_060219			activating molecule in beclin-1-regulated						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)														---	---	---	---
MYBPC3	4607	broad.mit.edu	37	11	47364875	47364876	+	Intron	INS	-	GA	GA			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47364875_47364876insGA	uc001nfa.3	-						MYBPC3_uc010rhl.1_5'Flank	NM_000256	NP_000247			myosin binding protein C, cardiac						cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			ovary(2)|central_nervous_system(1)	3				Lung(87;0.176)														---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47776298	47776298	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47776298delT	uc009ylv.2	-						FNBP4_uc001ngj.2_Intron|FNBP4_uc001ngl.2_Intron	NM_015308	NP_056123			formin binding protein 4											ovary(1)	1																		---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47843391	47843391	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47843391delA	uc001ngm.2	-						NUP160_uc009ylw.2_Intron	NM_015231	NP_056046			nucleoporin 160kDa						carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7																		---	---	---	---
Unknown	0	broad.mit.edu	37	11	55065032	55065032	+	RNA	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55065032delT	uc001nhl.1	-	2		c.391delA								Homo sapiens mRNA for hypothetical protein, partial sequence, clone:Hsa11-digit20-11-30-F.																														---	---	---	---
FAM111A	63901	broad.mit.edu	37	11	58920087	58920087	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58920087delA	uc010rkp.1	+	5	1173	c.946delA	c.(946-948)AAAfs	p.K316fs	FAM111A_uc010rkq.1_Frame_Shift_Del_p.K316fs|FAM111A_uc010rkr.1_Frame_Shift_Del_p.K316fs|FAM111A_uc001nno.2_Frame_Shift_Del_p.K316fs|FAM111A_uc001nnp.2_Frame_Shift_Del_p.K316fs|FAM111A_uc001nnq.2_Frame_Shift_Del_p.K316fs	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN	hypothetical protein LOC63901	316					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_epithelial(135;0.139)																---	---	---	---
MRPL16	54948	broad.mit.edu	37	11	59578160	59578160	+	5'UTR	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59578160delC	uc001noh.2	-	1						NM_017840	NP_060310			mitochondrial ribosomal protein L16 precursor								rRNA binding			central_nervous_system(1)	1																		---	---	---	---
MS4A1	931	broad.mit.edu	37	11	60234644	60234644	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60234644delA	uc001npp.2	+						MS4A1_uc001npq.2_Intron|MS4A1_uc009yna.2_Intron|MS4A1_uc009ymz.2_Intron|MS4A1_uc010rlc.1_Intron	NM_152866	NP_690605			membrane-spanning 4-domains, subfamily A, member						B cell activation|immune response	integral to plasma membrane				ovary(3)|lung(2)	5					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)													---	---	---	---
PRPF19	27339	broad.mit.edu	37	11	60666410	60666410	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60666410delA	uc001nqf.2	-							NM_014502	NP_055317			PRP19/PSO4 pre-mRNA processing factor 19						DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			ovary(1)	1																OREG0020994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TUT1	64852	broad.mit.edu	37	11	62346016	62346016	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62346016delA	uc001nto.2	-						TUT1_uc001ntp.1_5'Flank	NM_022830	NP_073741			terminal uridylyl transferase 1, U6						mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
MARK2	2011	broad.mit.edu	37	11	63672162	63672162	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63672162delC	uc001nxw.2	+						MARK2_uc001nxx.2_Intron|MARK2_uc001nxy.2_Intron|MARK2_uc001nxv.3_Intron|MARK2_uc001nxz.3_Intron|MARK2_uc009yoy.2_Intron	NM_001039469	NP_001034558			MAP/microtubule affinity-regulating kinase 2						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																		---	---	---	---
PYGM	5837	broad.mit.edu	37	11	64523035	64523035	+	Intron	DEL	G	-	-	rs75633423	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64523035delG	uc001oax.3	-						PYGM_uc001oay.3_Intron	NM_005609	NP_005600			muscle glycogen phosphorylase isoform 1						glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)													---	---	---	---
POLA2	23649	broad.mit.edu	37	11	65035986	65035987	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65035986_65035987insT	uc001odj.2	+						POLA2_uc009yqf.1_Intron|POLA2_uc010rod.1_Intron	NM_002689	NP_002680			DNA-directed DNA polymerase alpha 2						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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding				0					Dacarbazine(DB00851)													---	---	---	---
SART1	9092	broad.mit.edu	37	11	65732551	65732551	+	Intron	DEL	C	-	-	rs34227638		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65732551delC	uc001ogl.2	+						SART1_uc010rot.1_5'UTR	NM_005146	NP_005137			squamous cell carcinoma antigen recognized by T						cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				ovary(1)	1																		---	---	---	---
SF3B2	10992	broad.mit.edu	37	11	65835245	65835245	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65835245delC	uc001ogy.1	+						PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.1_5'Flank	NM_006842	NP_006833			splicing factor 3B subunit 2						interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(2)|breast(1)	3																OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
Unknown	0	broad.mit.edu	37	11	66158051	66158054	+	IGR	DEL	CCTT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66158051_66158054delCCTT								SLC29A2 (18406 upstream) : NPAS4 (30421 downstream)																																			---	---	---	---
PPP1CA	5499	broad.mit.edu	37	11	67165933	67165934	+	3'UTR	DEL	CC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67165933_67165934delCC	uc001okw.1	-	7					PPP1CA_uc009yro.1_3'UTR|PPP1CA_uc001okt.1_3'UTR|PPP1CA_uc001oku.1_3'UTR|PPP1CA_uc001okv.1_3'UTR|PPP1CA_uc001okx.1_3'UTR|PPP1CA_uc001oky.2_3'UTR	NM_002708	NP_002699			protein phosphatase 1, catalytic subunit, alpha						cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|pancreas(1)	2			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)															---	---	---	---
CCND1	595	broad.mit.edu	37	11	69462977	69462977	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:69462977delA	uc001opa.2	+							NM_053056	NP_444284			cyclin D1						cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			ovary(1)|lung(1)	2	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)			T	IGH@|FSTL3	CLL|B-ALL|breast					Multiple Myeloma(6;0.086)			---	---	---	---
UCP2	7351	broad.mit.edu	37	11	73686860	73686862	+	Intron	DEL	CTT	-	-	rs141148353		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73686860_73686862delCTT	uc001oup.1	-						UCP2_uc001ouq.1_Intron	NM_003355	NP_003346			uncoupling protein 2						proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding				0	Breast(11;0.000112)																	---	---	---	---
P4HA3	283208	broad.mit.edu	37	11	73984658	73984658	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73984658delA	uc001ouz.2	-						P4HA3_uc001ouy.3_Intron|P4HA3_uc010rrj.1_Intron	NM_182904	NP_878907			prolyl 4-hydroxylase, alpha III subunit							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)																	---	---	---	---
POLD3	10714	broad.mit.edu	37	11	74336609	74336609	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74336609delA	uc001ovf.1	+	8	965	c.890delA	c.(889-891)GAAfs	p.E297fs	POLD3_uc009yua.1_Frame_Shift_Del_p.E191fs	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	DNA-directed DNA polymerase delta 3	297					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			kidney(2)|ovary(1)	3	Breast(11;3.21e-06)																	---	---	---	---
RNF169	254225	broad.mit.edu	37	11	74457267	74457267	+	5'Flank	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74457267delT	uc001ovl.3	+							NM_001098638	NP_001092108			ring finger protein 169								zinc ion binding			ovary(1)	1																		---	---	---	---
GDPD5	81544	broad.mit.edu	37	11	75153672	75153672	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75153672delG	uc001owo.3	-						GDPD5_uc001owp.3_Intron|GDPD5_uc001own.3_Intron|GDPD5_uc009yuc.2_Intron|GDPD5_uc009yud.2_Intron	NM_030792	NP_110419			glycerophosphodiester phosphodiesterase domain						glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			ovary(1)	1																		---	---	---	---
C11orf30	56946	broad.mit.edu	37	11	76227407	76227407	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76227407delA	uc001oxl.2	+						C11orf30_uc001oxm.2_Intron|C11orf30_uc010rsb.1_Intron|C11orf30_uc010rsc.1_Intron|C11orf30_uc001oxn.2_Intron|C11orf30_uc010rsd.1_Intron	NM_020193	NP_064578			EMSY protein						chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(5)|skin(1)	6																		---	---	---	---
CAPN5	726	broad.mit.edu	37	11	76829140	76829140	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76829140delG	uc001oxx.2	+						CAPN5_uc009yup.2_Intron|CAPN5_uc009yuq.2_Intron|CAPN5_uc001oxy.2_Intron|CAPN5_uc001oya.2_5'Flank	NM_004055	NP_004046			calpain 5						proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0																		---	---	---	---
RSF1	51773	broad.mit.edu	37	11	77524322	77524322	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:77524322delT	uc001oyn.2	-						RSF1_uc001oyo.1_Intron	NM_016578	NP_057662			remodeling and spacing factor 1						CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)															---	---	---	---
DLG2	1740	broad.mit.edu	37	11	83962351	83962351	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:83962351delA	uc001paj.2	-						DLG2_uc001pai.2_Intron|DLG2_uc010rsy.1_Intron|DLG2_uc010rsz.1_Intron|DLG2_uc010rta.1_Intron|DLG2_uc001pak.2_Intron|DLG2_uc010rtb.1_Intron|DLG2_uc001pal.1_Intron|DLG2_uc001pam.1_Intron	NM_001364	NP_001355			chapsyn-110 isoform 2							cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding			ovary(3)|pancreas(2)|skin(1)	6		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)																---	---	---	---
FZD4	8322	broad.mit.edu	37	11	86663540	86663541	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:86663540_86663541insA	uc001pce.2	-						PRSS23_uc001pcc.1_RNA	NM_012193	NP_036325			frizzled 4 precursor						canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			large_intestine(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---
NAALAD2	10003	broad.mit.edu	37	11	89925063	89925063	+	3'UTR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89925063delT	uc001pdf.3	+	19					NAALAD2_uc009yvx.2_3'UTR|NAALAD2_uc009yvy.2_3'UTR	NM_005467	NP_005458			N-acetylated alpha-linked acidic dipeptidase 2						proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			pancreas(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)																---	---	---	---
CEP57	9702	broad.mit.edu	37	11	95551111	95551111	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:95551111delT	uc001pfp.1	+						CEP57_uc001pfo.1_Intron|CEP57_uc010ruh.1_Intron|CEP57_uc010rui.1_Intron|CEP57_uc009ywn.1_Intron|CEP57_uc001pfq.1_Intron|CEP57_uc001pfr.1_Intron	NM_014679	NP_055494			translokin						fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			ovary(1)	1		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)												Mosaic_Variegated_Aneuploidy_Syndrome				---	---	---	---
MAML2	84441	broad.mit.edu	37	11	95718643	95718643	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:95718643delT	uc001pfw.1	-							NM_032427	NP_115803			mastermind-like 2						Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)						T	MECT1|CRTC3	salivary gland mucoepidermoid								---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99941062	99941062	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:99941062delA	uc001pga.2	+						CNTN5_uc009ywv.1_Intron|CNTN5_uc001pfz.2_Intron|CNTN5_uc001pgb.2_Intron	NM_014361	NP_055176			contactin 5 isoform long						cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)														---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99942594	99942594	+	Intron	DEL	A	-	-	rs76748292		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:99942594delA	uc001pga.2	+						CNTN5_uc009ywv.1_Intron|CNTN5_uc001pfz.2_Intron|CNTN5_uc001pgb.2_Intron	NM_014361	NP_055176			contactin 5 isoform long						cell adhesion	anchored to membrane|plasma membrane	protein binding			skin(3)|ovary(2)|pancreas(2)|breast(1)	8		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)														---	---	---	---
DYNC2H1	79659	broad.mit.edu	37	11	103194726	103194726	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103194726delA	uc001pho.2	+						DYNC2H1_uc001phn.1_Intron|DYNC2H1_uc009yxe.1_Intron	NM_001080463	NP_001073932			dynein, cytoplasmic 2, heavy chain 1						cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---
AASDHPPT	60496	broad.mit.edu	37	11	105961907	105961907	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:105961907delT	uc001pjc.1	+						AASDHPPT_uc010rvn.1_Intron|AASDHPPT_uc001pjd.1_Intron	NM_015423	NP_056238			aminoadipate-semialdehyde						macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding				0		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)														---	---	---	---
Unknown	0	broad.mit.edu	37	11	113662177	113662178	+	IGR	DEL	GA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:113662177_113662178delGA								CLDN25 (10970 upstream) : USP28 (6420 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	11	114383759	114383759	+	IGR	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:114383759delC								REXO2 (62761 upstream) : FAM55A (8679 downstream)																																			---	---	---	---
IFT46	56912	broad.mit.edu	37	11	118425861	118425861	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118425861delA	uc001ptp.1	-						IFT46_uc001pto.1_Intron|IFT46_uc009zaf.1_Intron	NM_020153	NP_064538			IFT46						flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding				0																		---	---	---	---
MFRP	83552	broad.mit.edu	37	11	119213688	119213688	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119213688delG	uc001pwj.2	-	10	1310	c.1150delC	c.(1150-1152)CACfs	p.H384fs	MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Frame_Shift_Del_p.P308fs	NM_031433	NP_113621	Q9BXJ0	C1QT5_HUMAN	membrane frizzled-related protein	Error:Variant_position_missing_in_Q9BXJ0_after_alignment						collagen					0		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)														---	---	---	---
ARHGEF12	23365	broad.mit.edu	37	11	120318628	120318628	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120318628delT	uc001pxl.1	+						ARHGEF12_uc009zat.2_Intron|ARHGEF12_uc010rzn.1_Intron|ARHGEF12_uc009zau.1_Intron	NM_015313	NP_056128			Rho guanine nucleotide exchange factor (GEF) 12						apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(2)|breast(2)|skin(2)|ovary(1)	7		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)				T	MLL	AML								---	---	---	---
VWA5A	4013	broad.mit.edu	37	11	124012217	124012217	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124012217delG	uc001pzu.2	+						VWA5A_uc001pzt.2_Intron	NM_001130142	NP_001123614			BCSC-1 isoform 1											upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124755013	124755013	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124755013delC	uc001qbg.2	-	17	3065	c.2925delG	c.(2923-2925)GGGfs	p.G975fs	ROBO4_uc010sas.1_Frame_Shift_Del_p.G830fs	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	975					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)														---	---	---	---
NFRKB	4798	broad.mit.edu	37	11	129752688	129752688	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:129752688delT	uc001qfi.2	-						NFRKB_uc001qfg.2_Intron|NFRKB_uc001qfh.2_Intron|NFRKB_uc010sbw.1_Intron	NM_001143835	NP_001137307			nuclear factor related to kappaB binding protein						DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)														---	---	---	---
THYN1	29087	broad.mit.edu	37	11	134119775	134119777	+	In_Frame_Del	DEL	CTT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134119775_134119777delCTT	uc001qhf.2	-	5	431_433	c.329_331delAAG	c.(328-333)GAAGCC>GCC	p.E110del	THYN1_uc001qhg.2_In_Frame_Del_p.E110del|THYN1_uc001qhh.2_In_Frame_Del_p.E110del|THYN1_uc001qhi.2_In_Frame_Del_p.E110del|THYN1_uc001qhj.2_In_Frame_Del_p.E110del|THYN1_uc009zdb.2_In_Frame_Del_p.E110del	NM_001037305	NP_001032382	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1 isoform 1	110						nucleus					0	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)														---	---	---	---
CCDC77	84318	broad.mit.edu	37	12	527486	527486	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:527486delA	uc001qig.2	+						CCDC77_uc009zdk.2_Intron|CCDC77_uc010sdp.1_Intron|CCDC77_uc010sdq.1_Intron	NM_032358	NP_115734			coiled-coil domain containing 77 isoform a							centrosome				ovary(1)	1	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)															---	---	---	---
ERC1	23085	broad.mit.edu	37	12	1219207	1219207	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:1219207delA	uc001qjb.2	+						ERC1_uc001qiz.2_Intron|ERC1_uc001qjc.2_Intron|ERC1_uc001qja.2_Intron|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Intron|ERC1_uc010sdv.1_Intron|ERC1_uc009zdp.2_Intron	NM_178040	NP_829884			RAB6-interacting protein 2 isoform epsilon						I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			ovary(2)|lung(2)|breast(1)	5	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)															---	---	---	---
TULP3	7289	broad.mit.edu	37	12	3046966	3046966	+	Intron	DEL	A	-	-	rs3742080	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:3046966delA	uc010seh.1	+						TULP3_uc009zec.1_Intron|TULP3_uc010seg.1_Intron|TULP3_uc001qlj.2_Intron|TULP3_uc010sei.1_Intron	NM_003324	NP_003315			tubby like protein 3 isoform 1						G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding				0			OV - Ovarian serous cystadenocarcinoma(31;0.000818)															---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5915358	5915358	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5915358delT	uc001qnm.2	-							NM_020373	NP_065106			anoctamin 2							chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7																		---	---	---	---
NCAPD2	9918	broad.mit.edu	37	12	6618871	6618871	+	Intron	DEL	C	-	-	rs7309414	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6618871delC	uc001qoo.2	+						NCAPD2_uc009zen.1_Intron|NCAPD2_uc010sfd.1_Intron|SCARNA10_uc009zeo.1_5'Flank	NM_014865	NP_055680			non-SMC condensin I complex, subunit D2						cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5																		---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6682042	6682044	+	Intron	DEL	AAA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6682042_6682044delAAA	uc001qpo.2	-						CHD4_uc001qpn.2_Intron|CHD4_uc001qpp.2_Intron	NM_001273	NP_001264			chromodomain helicase DNA binding protein 4						chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2																		---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7045700	7045700	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7045700delC	uc001qrw.1	+	5	1507	c.1270delC	c.(1270-1272)CCCfs	p.P424fs	ATN1_uc001qrx.1_Frame_Shift_Del_p.P424fs|ATN1_uc001qry.1_Frame_Shift_Del_p.P423fs	NM_001007026	NP_001007027	P54259	ATN1_HUMAN	atrophin-1	424					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6																		---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7520860	7520860	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7520860delA	uc001qsy.2	-						CD163L1_uc010sge.1_Intron	NM_174941	NP_777601			scavenger receptor cysteine-rich type 1							extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11																		---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7556021	7556021	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7556021delT	uc001qsy.2	-						CD163L1_uc010sge.1_Intron	NM_174941	NP_777601			scavenger receptor cysteine-rich type 1							extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11																		---	---	---	---
KLRF1	51348	broad.mit.edu	37	12	9994747	9994748	+	Intron	DEL	TG	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9994747_9994748delTG	uc010sgw.1	+						KLRF1_uc009zgw.2_Intron|KLRF1_uc009zgx.2_Intron|KLRF1_uc001qwm.2_Intron|KLRF1_uc009zgy.2_Intron|KLRF1_uc009zgz.2_Intron|KLRF1_uc009zha.2_Intron	NM_016523	NP_057607			killer cell lectin-like receptor subfamily F,						cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			large_intestine(1)	1																		---	---	---	---
OLR1	4973	broad.mit.edu	37	12	10319126	10319126	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10319126delA	uc001qxo.1	-						OLR1_uc010sgz.1_Intron|OLR1_uc010sha.1_Intron	NM_002543	NP_002534			oxidized low density lipoprotein (lectin-like)						blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			ovary(1)	1																		---	---	---	---
HTR7P1	93164	broad.mit.edu	37	12	13174142	13174147	+	Intron	DEL	AACAAC	-	-	rs59907395		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13174142_13174147delAACAAC	uc001rbh.2	+											Homo sapiens cDNA FLJ43688 fis, clone TBAES2003492.												0																		---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	14018581	14018581	+	Intron	DEL	A	-	-	rs74837716		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14018581delA	uc001rbt.2	-							NM_000834	NP_000825			N-methyl-D-aspartate receptor subunit 2B						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			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---
DERA	51071	broad.mit.edu	37	12	16189071	16189072	+	Intron	DEL	GA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:16189071_16189072delGA	uc001rde.2	+							NM_015954	NP_057038			deoxyribose-phosphate aldolase-like						deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding				0		Hepatocellular(102;0.121)																---	---	---	---
ABCC9	10060	broad.mit.edu	37	12	21958787	21958788	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21958787_21958788insT	uc001rfi.1	-						ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Intron|ABCC9_uc001rfg.2_Intron	NM_005691	NP_005682			ATP-binding cassette, sub-family C, member 9						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)													---	---	---	---
BCAT1	586	broad.mit.edu	37	12	24994851	24994851	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:24994851delA	uc001rgd.3	-						BCAT1_uc001rgc.2_Intron|BCAT1_uc010six.1_Intron|BCAT1_uc010siy.1_Intron|BCAT1_uc001rge.3_Intron	NM_005504	NP_005495			branched chain aminotransferase 1, cytosolic						branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			lung(1)|breast(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)													---	---	---	---
LRMP	4033	broad.mit.edu	37	12	25232801	25232801	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:25232801delT	uc001rgh.2	+						LRMP_uc001rgg.1_Intron|LRMP_uc010sja.1_Intron|LRMP_uc010sjb.1_Intron|LRMP_uc001rgi.2_Intron|LRMP_uc010sjc.1_Intron|LRMP_uc010sjd.1_Intron	NM_006152	NP_006143			lymphoid-restricted membrane protein						vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)																	---	---	---	---
BHLHE41	79365	broad.mit.edu	37	12	26277186	26277187	+	Intron	INS	-	C	C	rs35292879		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26277186_26277187insC	uc001rhb.2	-							NM_030762	NP_110389			basic helix-loop-helix domain containing, class						cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
C12orf11	55726	broad.mit.edu	37	12	27087421	27087422	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27087421_27087422insT	uc001rhk.3	-						C12orf11_uc010sjk.1_Intron	NM_018164	NP_060634			hypothetical protein LOC55726						cell division|mitosis|regulation of mitotic cell cycle		protein binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3	Colorectal(261;0.0847)																	---	---	---	---
DNM1L	10059	broad.mit.edu	37	12	32884096	32884096	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32884096delA	uc001rld.2	+						DNM1L_uc010skg.1_Intron|DNM1L_uc001rle.2_Intron|DNM1L_uc001rlf.2_Intron|DNM1L_uc010skh.1_Intron|DNM1L_uc001rlg.2_Intron|DNM1L_uc001rlh.2_Intron|DNM1L_uc010ski.1_Intron	NM_012062	NP_036192			dynamin 1-like isoform 1						cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)																	---	---	---	---
PPHLN1	51535	broad.mit.edu	37	12	42826862	42826863	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:42826862_42826863insT	uc001rng.1	+						PPHLN1_uc001rmy.2_Intron|PPHLN1_uc001rne.2_Intron|PPHLN1_uc001rnb.2_Intron|PPHLN1_uc001rnd.2_Intron|PPHLN1_uc001rnc.2_Intron|PPHLN1_uc001rnf.2_Intron|PPHLN1_uc010skq.1_Intron|PPHLN1_uc010skr.1_Intron|PPHLN1_uc010sks.1_Intron|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Intron|PPHLN1_uc001rnh.1_Intron|PPHLN1_uc010sku.1_Intron	NM_016488	NP_057572			periphilin 1 isoform 1						keratinization	cytoplasm|nucleus				ovary(1)|breast(1)	2	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)														---	---	---	---
NELL2	4753	broad.mit.edu	37	12	45059567	45059567	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:45059567delT	uc001rog.2	-						NELL2_uc001rof.3_Intron|NELL2_uc001roh.2_Intron|NELL2_uc009zkd.2_Intron|NELL2_uc010skz.1_Intron|NELL2_uc010sla.1_Intron|NELL2_uc001roi.1_Intron|NELL2_uc010slb.1_Intron|NELL2_uc001roj.2_Intron	NM_001145108	NP_001138580			NEL-like protein 2 isoform b precursor						cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)														---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46240571	46240571	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46240571delA	uc001ros.1	+						ARID2_uc001ror.2_Intron|ARID2_uc009zkg.1_Intron|ARID2_uc009zkh.1_Intron	NM_152641	NP_689854			AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)														---	---	---	---
MLL2	8085	broad.mit.edu	37	12	49426113	49426115	+	In_Frame_Del	DEL	AGA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49426113_49426115delAGA	uc001rta.3	-	39	12373_12375	c.12373_12375delTCT	c.(12373-12375)TCTdel	p.S4125del		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	4125	Gln-rich.				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								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---
MLL2	8085	broad.mit.edu	37	12	49433407	49433407	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49433407delA	uc001rta.3	-							NM_003482	NP_003473			myeloid/lymphoid or mixed-lineage leukemia 2						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								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---
MLL2	8085	broad.mit.edu	37	12	49434005	49434005	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49434005delG	uc001rta.3	-	31	7548	c.7548delC	c.(7546-7548)CCCfs	p.P2516fs		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	2516	Pro-rich.				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								N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			---	---	---	---
RACGAP1	29127	broad.mit.edu	37	12	50393642	50393643	+	Intron	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50393642_50393643delTT	uc001rvt.2	-						RACGAP1_uc009zlm.1_Intron|RACGAP1_uc001rvs.2_Intron|RACGAP1_uc001rvu.2_Intron	NM_013277	NP_037409			Rac GTPase activating protein 1						blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			kidney(1)	1																		---	---	---	---
LARP4	113251	broad.mit.edu	37	12	50824444	50824444	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50824444delT	uc001rwp.1	+						LARP4_uc001rwo.1_Intron|LARP4_uc001rwq.1_Intron|LARP4_uc001rwr.1_Intron|LARP4_uc001rws.1_Intron|LARP4_uc001rwm.2_Intron|LARP4_uc001rwn.2_Intron	NM_052879	NP_443111			c-Mpl binding protein isoform a								nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
BIN2	51411	broad.mit.edu	37	12	51707494	51707494	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51707494delA	uc001ryg.2	-						BIN2_uc009zlz.2_Intron|BIN2_uc001ryh.2_Intron|BIN2_uc010sng.1_Intron	NM_016293	NP_057377			bridging integrator 2							cytoplasm	protein binding			ovary(1)	1																		---	---	---	---
KRT83	3889	broad.mit.edu	37	12	52711957	52711957	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52711957delT	uc001saf.2	-							NM_002282	NP_002273			keratin 83						epidermis development	keratin filament	structural molecule activity			skin(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---
TENC1	23371	broad.mit.edu	37	12	53452903	53452903	+	Frame_Shift_Del	DEL	C	-	-	rs142183380		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53452903delC	uc001sbp.2	+	18	1613	c.1478delC	c.(1477-1479)ACCfs	p.T493fs	TENC1_uc001sbl.2_Frame_Shift_Del_p.T369fs|TENC1_uc001sbn.2_Frame_Shift_Del_p.T503fs|TENC1_uc001sbq.2_5'UTR|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_5'UTR|TENC1_uc001sbs.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	493	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2																		---	---	---	---
SP1	6667	broad.mit.edu	37	12	53774020	53774021	+	5'UTR	INS	-	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53774020_53774021insC	uc001scw.2	+	1					SP1_uc010sog.1_5'Flank	NM_138473	NP_612482			Sp1 transcription factor isoform a						positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(357;0.00527)														---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56712808	56712808	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56712808delT	uc001skx.2	-						CNPY2_uc001sku.1_5'Flank|CNPY2_uc001skv.2_5'Flank|PAN2_uc001skw.2_Intron|PAN2_uc001skz.2_Intron|PAN2_uc001sky.2_Intron	NM_001127460	NP_001120932			PAN2 polyA specific ribonuclease subunit homolog						nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			ovary(2)|skin(2)|large_intestine(1)|breast(1)	6																		---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57605855	57605855	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57605855delC	uc001snd.2	+							NM_002332	NP_002323			low density lipoprotein-related protein 1						aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
CDK4	1019	broad.mit.edu	37	12	58144350	58144350	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58144350delA	uc001spv.2	-						CDK4_uc010ssb.1_Intron|CDK4_uc001spw.2_Intron|uc010ssc.1_5'Flank	NM_000075	NP_000066			cyclin-dependent kinase 4						cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			lung(1)|breast(1)|central_nervous_system(1)	3	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)					Mis			melanoma 			Hereditary_Melanoma				---	---	---	---
MARCH9	92979	broad.mit.edu	37	12	58152533	58152533	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:58152533delC	uc001spx.1	+	4	1306	c.894delC	c.(892-894)CGCfs	p.R298fs	MARCH9_uc001spy.2_Frame_Shift_Del_p.R185fs	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	membrane-associated RING-CH protein IX	298						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding				0	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)															---	---	---	---
DPY19L2	283417	broad.mit.edu	37	12	64020321	64020322	+	Intron	INS	-	A	A	rs7310030	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64020321_64020322insA	uc001srp.1	-						DPY19L2_uc009zqk.1_Intron	NM_173812	NP_776173			dpy-19-like 2						multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)														---	---	---	---
SRGAP1	57522	broad.mit.edu	37	12	64521663	64521663	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64521663delC	uc010ssp.1	+	21	2619	c.2563delC	c.(2563-2565)CCCfs	p.P855fs	SRGAP1_uc001srv.2_Frame_Shift_Del_p.P792fs	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	855	Poly-Pro.				axon guidance	cytosol				ovary(2)|central_nervous_system(2)	4			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)														---	---	---	---
RAP1B	5908	broad.mit.edu	37	12	69021112	69021112	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69021112delC	uc001sub.2	+						RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Intron|RAP1B_uc010stf.1_Intron|RAP1B_uc010stg.1_Intron|RAP1B_uc010sth.1_Intron|RAP1B_uc010sti.1_Intron	NM_001089704	NP_001083173			SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;						blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)														---	---	---	---
RAP1B	5908	broad.mit.edu	37	12	69036118	69036118	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69036118delA	uc001sub.2	+						RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Intron|RAP1B_uc010stf.1_Intron|RAP1B_uc010stg.1_Intron|RAP1B_uc010sth.1_Intron|RAP1B_uc010sti.1_Intron	NM_001089704	NP_001083173			SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;						blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)														---	---	---	---
RAP1B	5908	broad.mit.edu	37	12	69044168	69044168	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69044168delT	uc001sub.2	+						RAP1B_uc010ste.1_Intron|RAP1B_uc001suc.2_Intron|RAP1B_uc010stf.1_Intron|RAP1B_uc010stg.1_Intron|RAP1B_uc010sth.1_Intron|RAP1B_uc010sti.1_Intron	NM_001089704	NP_001083173			SubName: Full=Ras-related protein Rap-1A; SubName: Full=cDNA FLJ75985, highly similar to Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA; SubName: Full=RAP1A, member of RAS oncogene family;						blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding				0	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)														---	---	---	---
SLC35E3	55508	broad.mit.edu	37	12	69141829	69141829	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69141829delT	uc001suh.2	+							NM_018656	NP_061126			solute carrier family 35, member E2							integral to membrane					0	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)															---	---	---	---
GLIPR1L2	144321	broad.mit.edu	37	12	75804167	75804168	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:75804167_75804168insA	uc001sxr.1	+						GLIPR1L2_uc001sxp.1_Intron|GLIPR1L2_uc001sxq.1_Intron	NM_152436	NP_689649			GLI pathogenesis-related 1 like 2							integral to membrane				ovary(1)	1																		---	---	---	---
NAP1L1	4673	broad.mit.edu	37	12	76442093	76442093	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:76442093delA	uc001sxw.2	-						NAP1L1_uc001sxv.2_Intron|NAP1L1_uc001sxz.2_3'UTR|NAP1L1_uc001sxx.2_3'UTR|NAP1L1_uc001sxy.2_3'UTR|NAP1L1_uc010sty.1_3'UTR|NAP1L1_uc010stz.1_3'UTR	NM_139207	NP_631946			nucleosome assembly protein 1-like 1						DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			ovary(1)|skin(1)	2		Colorectal(145;0.09)																---	---	---	---
SYT1	6857	broad.mit.edu	37	12	79747092	79747092	+	Intron	DEL	A	-	-	rs143147207		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:79747092delA	uc001sys.2	+						SYT1_uc001syt.2_Intron|SYT1_uc001syu.2_Intron|SYT1_uc001syv.2_Intron	NM_001135805	NP_001129277			synaptotagmin I						detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			skin(3)|pancreas(2)|ovary(1)	6																		---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81655693	81655693	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:81655693delT	uc001szo.1	-						PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_Intron|PPFIA2_uc010suh.1_Intron|PPFIA2_uc010suf.1_Intron|PPFIA2_uc009zsh.2_Intron	NM_003625	NP_003616			PTPRF interacting protein alpha 2											ovary(3)|lung(2)|pancreas(1)	6																		---	---	---	---
C12orf26	84190	broad.mit.edu	37	12	82871011	82871011	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:82871011delT	uc001szq.2	+							NM_032230	NP_115606			hypothetical protein LOC84190												0																		---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95650969	95650969	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:95650969delT	uc001tdz.2	+	3	317	c.212delT	c.(211-213)ATTfs	p.I71fs	VEZT_uc009zsy.1_Intron|VEZT_uc001tdr.2_Intron|VEZT_uc001tds.2_Frame_Shift_Del_p.I23fs|VEZT_uc001tdt.2_Frame_Shift_Del_p.I23fs|VEZT_uc009zsz.1_Frame_Shift_Del_p.I71fs|VEZT_uc001tdv.2_Frame_Shift_Del_p.I40fs|VEZT_uc001tdw.1_Frame_Shift_Del_p.I23fs|VEZT_uc009zta.1_Frame_Shift_Del_p.I23fs	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	71						acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1																		---	---	---	---
CCDC38	120935	broad.mit.edu	37	12	96284755	96284755	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:96284755delA	uc001tek.1	-							NM_182496	NP_872302			coiled-coil domain containing 38											skin(1)	1																		---	---	---	---
C12orf63	374467	broad.mit.edu	37	12	97073209	97073209	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:97073209delA	uc001tet.1	+							NM_198520	NP_940922			hypothetical protein LOC374467											skin(6)|ovary(1)	7																		---	---	---	---
C12orf63	374467	broad.mit.edu	37	12	97082670	97082670	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:97082670delT	uc001tet.1	+							NM_198520	NP_940922			hypothetical protein LOC374467											skin(6)|ovary(1)	7																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	98073980	98073980	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:98073980delA								RMST (115187 upstream) : LOC100128191 (832773 downstream)																																			---	---	---	---
ACTR6	64431	broad.mit.edu	37	12	100617458	100617458	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100617458delA	uc001thb.1	+						ACTR6_uc001thc.1_Intron|ACTR6_uc001thd.1_Intron|ACTR6_uc009ztu.1_Intron|ACTR6_uc001the.1_Intron|ACTR6_uc001thf.1_Intron|uc001thg.1_5'Flank	NM_022496	NP_071941			ARP6 actin-related protein 6 homolog							cytoplasm|cytoskeleton				ovary(1)	1																		---	---	---	---
DEPDC4	120863	broad.mit.edu	37	12	100657163	100657163	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100657163delT	uc001thi.2	-						DEPDC4_uc001thh.1_Intron|DEPDC4_uc001thj.1_Intron|DEPDC4_uc009ztv.1_Intron|DEPDC4_uc001thk.1_Intron|DEPDC4_uc001thl.1_Intron	NM_152317	NP_689530			DEP domain containing 4						intracellular signal transduction						0																		---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101763831	101763832	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101763831_101763832delAA	uc001tia.1	+							NM_014503	NP_055318			down-regulated in metastasis						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---
PAH	5053	broad.mit.edu	37	12	103234096	103234097	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:103234096_103234097insT	uc001tjq.1	-							NM_000277	NP_000268			phenylalanine hydroxylase						catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)													---	---	---	---
SLC41A2	84102	broad.mit.edu	37	12	105199286	105199286	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105199286delA	uc001tla.2	-							NM_032148	NP_115524			solute carrier family 41, member 2							integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			ovary(1)|skin(1)	2																		---	---	---	---
KIAA1033	23325	broad.mit.edu	37	12	105527702	105527702	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105527702delT	uc001tld.2	+						KIAA1033_uc010swr.1_Intron|KIAA1033_uc010sws.1_Intron	NM_015275	NP_056090			hypothetical protein LOC23325						endosome transport	WASH complex				kidney(1)|central_nervous_system(1)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	107296206	107296206	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:107296206delT								RIC8B (13114 upstream) : C12orf23 (53338 downstream)																																			---	---	---	---
ACACB	32	broad.mit.edu	37	12	109683896	109683896	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109683896delA	uc001tob.2	+						ACACB_uc001toc.2_Intron|ACACB_uc010sxl.1_Intron|ACACB_uc001tod.2_Intron|ACACB_uc010sxm.1_Intron	NM_001093	NP_001084			acetyl-Coenzyme A carboxylase beta						acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8					Biotin(DB00121)													---	---	---	---
MYO1H	283446	broad.mit.edu	37	12	109881304	109881304	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109881304delA	uc010sxo.1	+						MYO1H_uc010sxn.1_Intron					SubName: Full=cDNA FLJ54829, moderately similar to Myosin Ic; SubName: Full=Myosin IH, isoform CRA_a;							myosin complex	motor activity				0																		---	---	---	---
ATXN2	6311	broad.mit.edu	37	12	111908314	111908314	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111908314delT	uc001tsj.2	-						ATXN2_uc001tsh.2_Intron|ATXN2_uc001tsi.2_Intron|ATXN2_uc001tsk.2_Intron|ATXN2_uc001tsg.2_Intron|ATXN2_uc001tsl.1_Intron	NM_002973	NP_002964			ataxin 2						cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2																		---	---	---	---
ATXN2	6311	broad.mit.edu	37	12	111924522	111924522	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111924522delT	uc001tsj.2	-						ATXN2_uc001tsh.2_Intron|ATXN2_uc001tsi.2_Intron|ATXN2_uc001tsk.2_Intron|ATXN2_uc001tsg.2_Intron	NM_002973	NP_002964			ataxin 2						cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2																		---	---	---	---
NAA25	80018	broad.mit.edu	37	12	112498173	112498173	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112498173delA	uc001ttm.2	-						NAA25_uc001ttn.3_Intron|NAA25_uc009zvz.1_Intron|NAA25_uc009zwa.1_Intron	NM_024953	NP_079229			mitochondrial distribution and morphology 20							cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3																		---	---	---	---
TRAFD1	10906	broad.mit.edu	37	12	112568246	112568247	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112568246_112568247insT	uc001ttp.2	+						TRAFD1_uc001tto.2_Intron|TRAFD1_uc009zwb.2_Intron|TRAFD1_uc010syj.1_Intron	NM_006700	NP_006691			TRAF-type zinc finger domain containing 1						negative regulation of innate immune response	intracellular	protein binding|zinc ion binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	12	114112058	114112065	+	IGR	DEL	TCCTTCTC	-	-	rs71086202	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114112058_114112065delTCCTTCTC								LHX5 (202181 upstream) : RBM19 (142478 downstream)																																			---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120801065	120801065	+	Intron	DEL	C	-	-	rs34243955		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120801065delC	uc001tye.1	-							NM_002442	NP_002433			musashi 1						nervous system development	cytoplasm|nucleus	nucleotide binding			central_nervous_system(2)|breast(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
COQ5	84274	broad.mit.edu	37	12	120960838	120960838	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120960838delA	uc001tyn.2	-						COQ5_uc001tyo.2_Intron|COQ5_uc010szj.1_Intron	NM_032314	NP_115690			coenzyme Q5 homolog, methyltransferase						ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122838948	122838948	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122838948delA	uc001ucg.1	-						CLIP1_uc001uch.1_Intron|CLIP1_uc001uci.1_Intron|CLIP1_uc001ucj.1_Intron|CLIP1_uc009zxo.1_Intron|CLIP1_uc010tae.1_Intron	NM_002956	NP_002947			restin isoform a						mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)														---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125438941	125438941	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125438941delT	uc001ugy.2	-						DHX37_uc001ugz.1_5'Flank	NM_032656	NP_116045			DEAH (Asp-Glu-Ala-His) box polypeptide 37								ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)														---	---	---	---
Unknown	0	broad.mit.edu	37	12	128256632	128256633	+	IGR	DEL	AG	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:128256632_128256633delAG								None (None upstream) : TMEM132C (642658 downstream)																																			---	---	---	---
PXMP2	5827	broad.mit.edu	37	12	133278032	133278032	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133278032delC	uc001ukt.2	+						PGAM5_uc010tbr.1_Intron	NM_018663	NP_061133			peroxisomal membrane protein 2, 22kDa							integral to membrane|peroxisomal membrane	protein binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)														---	---	---	---
GOLGA3	2802	broad.mit.edu	37	12	133363543	133363544	+	Intron	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133363543_133363544delTT	uc001ukz.1	-						GOLGA3_uc001ula.1_Intron|GOLGA3_uc001ulb.2_Intron	NM_005895	NP_005886			Golgi autoantigen, golgin subfamily a, 3						intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)														---	---	---	---
ZNF268	10795	broad.mit.edu	37	12	133727873	133727873	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133727873delT	uc010tbv.1	+						ZNF10_uc009zzb.2_Intron|ZNF10_uc001ulq.2_Intron					RecName: Full=Zinc finger protein 268; AltName: Full=Zinc finger protein 3; AltName: Full=HZF3;							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)														---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20638677	20638677	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20638677delA	uc001umr.2	+	20	3422	c.3124delA	c.(3124-3126)AAAfs	p.K1042fs	ZMYM2_uc001ums.2_Frame_Shift_Del_p.K1042fs|ZMYM2_uc001umt.2_Frame_Shift_Del_p.K1042fs|ZMYM2_uc001umv.2_Frame_Shift_Del_p.K422fs|ZMYM2_uc001umw.2_Frame_Shift_Del_p.K495fs	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	1042					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)														---	---	---	---
CRYL1	51084	broad.mit.edu	37	13	21086763	21086764	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21086763_21086764insT	uc001une.2	-						CRYL1_uc001unf.2_Intron|CRYL1_uc001ung.2_Intron	NM_015974	NP_057058			lambda-crystallin						fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity				0		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)														---	---	---	---
PARP4	143	broad.mit.edu	37	13	25000864	25000864	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25000864delA	uc001upl.2	-							NM_006437	NP_006428			poly (ADP-ribose) polymerase family, member 4						cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)														---	---	---	---
RNF17	56163	broad.mit.edu	37	13	25362211	25362211	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25362211delA	uc001upr.2	+	7	738	c.697delA	c.(697-699)AAAfs	p.K233fs	RNF17_uc010tdd.1_Frame_Shift_Del_p.K92fs|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Frame_Shift_Del_p.K233fs|RNF17_uc001ups.2_Frame_Shift_Del_p.K172fs|RNF17_uc001upq.1_Frame_Shift_Del_p.K233fs	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	ring finger protein 17	233					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			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)														---	---	---	---
FLT1	2321	broad.mit.edu	37	13	29041804	29041804	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:29041804delT	uc001usb.3	-						FLT1_uc010aar.1_Intron|FLT1_uc001usc.3_Intron|FLT1_uc010tdp.1_Intron|FLT1_uc001usd.2_Intron	NM_002019	NP_002010			fms-related tyrosine kinase 1 isoform 1						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)													---	---	---	---
KATNAL1	84056	broad.mit.edu	37	13	30782951	30782951	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:30782951delA	uc001uss.2	-						KATNAL1_uc001ust.2_Intron	NM_001014380	NP_001014402			katanin p60 subunit A-like 1							cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity				0		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32776055	32776056	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32776055_32776056insT	uc001utx.2	+						FRY_uc010tdw.1_Intron	NM_023037	NP_075463			furry homolog						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)														---	---	---	---
NBEA	26960	broad.mit.edu	37	13	35782714	35782714	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:35782714delT	uc001uvb.2	+						NBEA_uc010abi.2_Intron	NM_015678	NP_056493			neurobeachin							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)														---	---	---	---
NBEA	26960	broad.mit.edu	37	13	36006603	36006603	+	Intron	DEL	T	-	-	rs75161455		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36006603delT	uc001uvb.2	+						NBEA_uc010abi.2_Intron	NM_015678	NP_056493			neurobeachin							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)														---	---	---	---
FAM48A	55578	broad.mit.edu	37	13	37607341	37607341	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:37607341delA	uc001uwg.2	-						FAM48A_uc010abt.2_Intron|FAM48A_uc001uwh.2_Intron|FAM48A_uc001uwi.2_Intron|FAM48A_uc001uwj.2_Intron|FAM48A_uc001uwk.2_Intron|FAM48A_uc010tes.1_Intron|FAM48A_uc001uwl.1_Intron	NM_001014286	NP_001014308			family with sequence similarity 48, member A						autophagy|gastrulation	SAGA-type complex	protein binding				0		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)														---	---	---	---
POSTN	10631	broad.mit.edu	37	13	38171302	38171303	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:38171302_38171303delAA	uc001uwo.3	-						POSTN_uc001uwp.3_Intron|POSTN_uc001uwr.2_Intron|POSTN_uc001uwq.2_Intron|POSTN_uc010teu.1_Intron|POSTN_uc010tev.1_Intron|POSTN_uc010tew.1_Intron|POSTN_uc010tex.1_Intron	NM_006475	NP_006466			periostin, osteoblast specific factor isoform 1						cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			ovary(2)	2		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)														---	---	---	---
MTRF1	9617	broad.mit.edu	37	13	41834495	41834495	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:41834495delA	uc001uxx.2	-						MTRF1_uc001uxy.2_Intron|MTRF1_uc001uxz.2_Intron|MTRF1_uc010tff.1_Intron|MTRF1_uc001uyc.1_Intron	NM_004294	NP_004285			mitochondrial translational release factor 1						regulation of translational termination	mitochondrion	translation release factor activity, codon specific				0		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)														---	---	---	---
LRCH1	23143	broad.mit.edu	37	13	47286514	47286515	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:47286514_47286515insT	uc001vbj.2	+						LRCH1_uc001vbk.2_Intron|LRCH1_uc001vbl.3_Intron	NM_015116	NP_055931			leucine-rich repeats and calponin homology (CH)											ovary(1)|central_nervous_system(1)	2		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)														---	---	---	---
RB1	5925	broad.mit.edu	37	13	48902113	48902113	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:48902113delA	uc001vcb.2	+						RB1_uc010acs.1_Intron	NM_000321	NP_000312			retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding			lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			---	---	---	---
NEK5	341676	broad.mit.edu	37	13	52673846	52673846	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52673846delA	uc001vge.2	-						NEK5_uc001vgf.2_Intron	NM_199289	NP_954983			NIMA-related kinase 5								ATP binding|metal ion binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)	1		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)														---	---	---	---
CKAP2	26586	broad.mit.edu	37	13	53049034	53049034	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:53049034delA	uc001vgv.2	+	9	2007	c.1810delA	c.(1810-1812)AAAfs	p.K604fs	CKAP2_uc001vgu.2_Frame_Shift_Del_p.K603fs|CKAP2_uc010tha.1_Frame_Shift_Del_p.K555fs	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2 isoform 2	604					apoptosis|cell cycle	centrosome|microtubule|spindle pole				ovary(1)|skin(1)	2		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)														---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76430509	76430509	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:76430509delT	uc001vjv.2	+						LMO7_uc010thv.1_Intron|LMO7_uc010thw.1_Intron|LMO7_uc001vjx.1_5'Flank	NM_015842	NP_056667			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)														---	---	---	---
Unknown	0	broad.mit.edu	37	13	77562830	77562830	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77562830delA								BTF3L1 (59607 upstream) : CLN5 (3229 downstream)																																			---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77738560	77738560	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77738560delA	uc001vkf.2	-						MYCBP2_uc010aev.2_Intron	NM_015057	NP_055872			MYC binding protein 2						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)														---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77807103	77807103	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77807103delA	uc001vkf.2	-						MYCBP2_uc010aev.2_Intron	NM_015057	NP_055872			MYC binding protein 2						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)														---	---	---	---
Unknown	0	broad.mit.edu	37	13	84481623	84481623	+	IGR	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:84481623delG								SLITRK1 (25095 upstream) : None (None downstream)																																			---	---	---	---
SLC15A1	6564	broad.mit.edu	37	13	99373911	99373911	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99373911delT	uc001vno.2	-						SLC15A1_uc001vnp.1_Intron	NM_005073	NP_005064			solute carrier family 15 (oligopeptide						digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			ovary(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)													---	---	---	---
TM9SF2	9375	broad.mit.edu	37	13	100191477	100191477	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:100191477delA	uc001voj.1	+						TM9SF2_uc010afz.1_Intron	NM_004800	NP_004791			transmembrane 9 superfamily member 2 precursor						transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)																	---	---	---	---
TM9SF2	9375	broad.mit.edu	37	13	100196011	100196011	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:100196011delA	uc001voj.1	+						TM9SF2_uc010afz.1_Intron	NM_004800	NP_004791			transmembrane 9 superfamily member 2 precursor						transport	endosome membrane|integral to plasma membrane				ovary(1)	1	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)																	---	---	---	---
TPP2	7174	broad.mit.edu	37	13	103266436	103266436	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:103266436delT	uc001vpi.3	+							NM_003291	NP_003282			tripeptidyl peptidase II						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)																	---	---	---	---
Unknown	0	broad.mit.edu	37	13	110078785	110078786	+	IGR	INS	-	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110078785_110078786insC								MYO16 (218430 upstream) : IRS2 (327400 downstream)																																			---	---	---	---
COL4A1	1282	broad.mit.edu	37	13	110857593	110857594	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110857593_110857594insT	uc001vqw.3	-						COL4A1_uc010agl.2_Intron	NM_001845	NP_001836			alpha 1 type IV collagen preproprotein						angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)															---	---	---	---
CARS2	79587	broad.mit.edu	37	13	111339867	111339867	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111339867delA	uc001vrd.2	-						CARS2_uc010tjm.1_Intron	NM_024537	NP_078813			cysteinyl-tRNA synthetase 2, mitochondrial						cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding				0	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;0.163)		L-Cysteine(DB00151)													---	---	---	---
F10	2159	broad.mit.edu	37	13	113803145	113803146	+	Intron	DEL	AT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113803145_113803146delAT	uc001vsx.2	+						F10_uc001vsy.2_Intron|F10_uc001vsz.2_Intron	NM_000504	NP_000495			coagulation factor X preproprotein						blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			pancreas(1)	1	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_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
TFDP1	7027	broad.mit.edu	37	13	114290282	114290282	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114290282delT	uc001vtw.2	+						TFDP1_uc010tkd.1_Intron|TFDP1_uc010tke.1_Intron|TFDP1_uc001vty.3_Intron|TFDP1_uc001vtx.2_Intron	NM_007111	NP_009042			transcription factor Dp-1						cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			lung(4)|ovary(2)|skin(1)	7	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;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)												TSP Lung(29;0.18)			---	---	---	---
GRK1	6011	broad.mit.edu	37	13	114322049	114322049	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114322049delC	uc010tkf.1	+	1	456	c.348delC	c.(346-348)GACfs	p.D116fs		NM_002929	NP_002920	Q15835	RK_HUMAN	rhodopsin kinase precursor	116	RGS.|N-terminal.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	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;0.234)															---	---	---	---
CCNB1IP1	57820	broad.mit.edu	37	14	20779552	20779552	+	3'UTR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20779552delT	uc001vwv.2	-	7					CCNB1IP1_uc001vww.2_3'UTR|CCNB1IP1_uc001vwx.2_3'UTR|CCNB1IP1_uc001vwy.2_3'UTR|CCNB1IP1_uc001vwz.2_3'UTR	NM_182851	NP_878271			cyclin B1 interacting protein 1 isoform 3							chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	soft_tissue(2)|ovary(1)	3	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)				T	HMGA2	leiomyoma								---	---	---	---
Unknown	0	broad.mit.edu	37	14	21302182	21302182	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21302182delA								RNASE1 (31146 upstream) : RNASE3 (57380 downstream)																																			---	---	---	---
METT11D1	64745	broad.mit.edu	37	14	21461941	21461941	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21461941delT	uc001vyn.2	+						METT11D1_uc001vym.2_Intron|METT11D1_uc001vyo.2_Intron|METT11D1_uc001vyp.2_Intron|METT11D1_uc001vyq.2_Intron	NM_022734	NP_073571			methyltransferase 11 domain containing 1 isoform						translation	mitochondrion|ribosome	copper ion binding|methyltransferase activity				0	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0191)														---	---	---	---
ZNF219	51222	broad.mit.edu	37	14	21558707	21558707	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21558707delC	uc001vzr.2	-	5	2578	c.2157delG	c.(2155-2157)GGGfs	p.G719fs	ZNF219_uc001vzs.2_Frame_Shift_Del_p.G719fs|ZNF219_uc010aik.1_Frame_Shift_Del_p.G719fs	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	719					negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)	1	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)														---	---	---	---
RPGRIP1	57096	broad.mit.edu	37	14	21816470	21816470	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21816470delT	uc001wag.2	+						RPGRIP1_uc001wah.2_Intron|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001wak.2_Intron|RPGRIP1_uc010aim.2_Intron|RPGRIP1_uc001wal.2_Intron|RPGRIP1_uc001wam.2_Intron	NM_020366	NP_065099			retinitis pigmentosa GTPase regulator						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)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22192909	22192909	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22192909delT								OR4E2 (58673 upstream) : DAD1 (840898 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	14	22409518	22409525	+	Intron	DEL	TCTCTCTC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22409518_22409525delTCTCTCTC	uc001wbw.2	+						uc010tmg.1_Intron|uc010tmh.1_Intron|uc010aiv.1_Intron|uc010tmi.1_Intron|uc010tmj.1_Intron|uc010aja.1_Intron|uc010ajb.1_Intron|uc001wck.2_Intron					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
LRRC16B	90668	broad.mit.edu	37	14	24537638	24537638	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24537638delA	uc001wlj.2	+						LRRC16B_uc001wlk.2_Intron|CPNE6_uc010tnv.1_5'Flank|CPNE6_uc001wlm.2_5'Flank	NM_138360	NP_612369			leucine rich repeat containing 16B											ovary(2)|breast(2)|pancreas(1)	5				GBM - Glioblastoma multiforme(265;0.019)														---	---	---	---
DHRS1	115817	broad.mit.edu	37	14	24765612	24765612	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24765612delG	uc001woj.1	-						DHRS1_uc010aln.1_5'Flank|DHRS1_uc001wok.2_Intron	NM_138452	NP_612461			dehydrogenase/reductase (SDR family) member 1							endoplasmic reticulum	binding|oxidoreductase activity				0				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)												OREG0022622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30396622	30396623	+	In_Frame_Ins	INS	-	CCCGGA	CCCGGA	rs144938427	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:30396622_30396623insCCCGGA	uc001wqh.2	-	1	277_278	c.96_97insTCCGGG	c.(94-99)insTCCGGG	p.32_33insSG		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	32_33					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)														---	---	---	---
G2E3	55632	broad.mit.edu	37	14	31074771	31074772	+	Frame_Shift_Ins	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31074771_31074772insA	uc001wqk.2	+	11	1225_1226	c.1071_1072insA	c.(1069-1074)ATTAAAfs	p.I357fs	G2E3_uc010tpe.1_Intron|G2E3_uc010tpf.1_Frame_Shift_Ins_p.I311fs	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin ligase	357_358					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
SCFD1	23256	broad.mit.edu	37	14	31112379	31112379	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31112379delA	uc001wqm.1	+						SCFD1_uc001wqn.1_Intron|SCFD1_uc010tpg.1_Intron|SCFD1_uc010tph.1_Intron|SCFD1_uc010amf.1_Intron|SCFD1_uc010tpi.1_Intron|SCFD1_uc010amd.1_Intron|SCFD1_uc010ame.1_Intron	NM_016106	NP_057190			vesicle transport-related protein isoform a						post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding				0	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)														---	---	---	---
HECTD1	25831	broad.mit.edu	37	14	31581823	31581823	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:31581823delT	uc001wrc.1	-						HECTD1_uc001wra.1_Intron|HECTD1_uc001wrb.1_Intron	NM_015382	NP_056197			HECT domain containing 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			ovary(3)|large_intestine(1)|lung(1)	5	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)														---	---	---	---
NPAS3	64067	broad.mit.edu	37	14	33836551	33836551	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:33836551delT	uc001wru.2	+						NPAS3_uc001wrs.2_Intron|NPAS3_uc001wrt.2_Intron|NPAS3_uc001wrv.2_Intron|NPAS3_uc001wrw.2_Intron	NM_173159	NP_071406			neuronal PAS domain protein 3 isoform 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			ovary(1)|skin(1)	2	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)														---	---	---	---
EAPP	55837	broad.mit.edu	37	14	34985336	34985336	+	3'UTR	DEL	A	-	-	rs144603764		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:34985336delA	uc001wsd.1	-	6						NM_018453	NP_060923			E2F-associated phosphoprotein						negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				ovary(1)	1	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)														---	---	---	---
PSMA6	5687	broad.mit.edu	37	14	35777176	35777176	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35777176delA	uc001wtd.2	+						KIAA0391_uc001wta.2_Intron|PSMA6_uc010tpt.1_Intron|PSMA6_uc010tpu.1_Intron	NM_002791	NP_002782			proteasome alpha 6 subunit						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 NF-kappaB transcription factor activity|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	mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere	NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity				0	Breast(36;0.0519)|Hepatocellular(127;0.158)		Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973)	GBM - Glioblastoma multiforme(112;0.0234)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	39681388	39681388	+	IGR	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39681388delC								PNN (28967 upstream) : MIA2 (21737 downstream)																																			---	---	---	---
LRFN5	145581	broad.mit.edu	37	14	42357283	42357284	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:42357283_42357284insT	uc001wvm.2	+						LRFN5_uc010ana.2_Intron	NM_152447	NP_689660			leucine rich repeat and fibronectin type III							integral to membrane				ovary(5)|pancreas(2)|central_nervous_system(1)	8			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)											HNSCC(30;0.082)			---	---	---	---
FAM179B	23116	broad.mit.edu	37	14	45540973	45540973	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45540973delA	uc001wvv.2	+	18	5078	c.4869delA	c.(4867-4869)GCAfs	p.A1623fs	FAM179B_uc001wvw.2_Frame_Shift_Del_p.A1676fs|FAM179B_uc010anc.2_RNA	NM_015091	NP_055906	Q9Y4F4	F179B_HUMAN	hypothetical protein LOC23116	1623							binding			skin(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45628543	45628543	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45628543delT	uc001wwd.3	+						FANCM_uc001wwc.2_Intron|FANCM_uc010anf.2_Intron|FANCM_uc001wwe.3_Intron	NM_020937	NP_065988			Fanconi anemia, complementation group M						DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47601064	47601064	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:47601064delA	uc001wwj.3	-						MDGA2_uc001wwi.3_Intron|MDGA2_uc010ani.2_Intron	NM_001113498	NP_001106970			MAM domain containing 1 isoform 1						spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				ovary(4)|large_intestine(1)|pancreas(1)	6																		---	---	---	---
SDCCAG1	9147	broad.mit.edu	37	14	50192557	50192557	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50192557delT	uc010anj.1	-						KLHDC1_uc001www.2_Intron|KLHDC1_uc010tqg.1_Intron|KLHDC1_uc010tqh.1_Intron	NM_004713	NP_004704			serologically defined colon cancer antigen 1							cytoplasm|nucleus					0	all_epithelial(31;0.000822)|Breast(41;0.0117)	all_lung(585;1.02e-05)		OV - Ovarian serous cystadenocarcinoma(311;5.99e-34)														---	---	---	---
NIN	51199	broad.mit.edu	37	14	51202342	51202342	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51202342delA	uc001wym.2	-						NIN_uc001wyi.2_Intron|NIN_uc001wyj.2_Intron|NIN_uc001wyk.2_Intron|NIN_uc010tqp.1_Intron|NIN_uc001wyo.2_Intron|NIN_uc001wyn.2_Intron	NM_182946	NP_891991			ninein isoform 5						centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			skin(3)|ovary(1)|kidney(1)|central_nervous_system(1)	6	all_epithelial(31;0.00244)|Breast(41;0.127)							T	PDGFRB	MPD								---	---	---	---
GPR137C	283554	broad.mit.edu	37	14	53101641	53101641	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:53101641delT	uc001wzu.3	+						GPR137C_uc001wzt.3_Intron	NM_001099652	NP_001093122			G protein-coupled receptor 137C							integral to membrane					0	Breast(41;0.0716)																	---	---	---	---
CDKN3	1033	broad.mit.edu	37	14	54868069	54868069	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:54868069delT	uc001xap.2	+						CDKN3_uc001xar.2_Intron|CDKN3_uc001xaq.2_Intron|CDKN3_uc010aoi.1_Intron|CDKN3_uc001xas.1_Intron|CDKN3_uc010aoj.1_Intron	NM_005192	NP_005183			cyclin-dependent kinase inhibitor 3 isoform 1						cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0																		---	---	---	---
C14orf101	54916	broad.mit.edu	37	14	57113905	57113905	+	Intron	DEL	A	-	-	rs34295946		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:57113905delA	uc001xcm.2	+						C14orf101_uc001xcj.2_Intron|C14orf101_uc001xcn.2_Intron|C14orf101_uc010trf.1_Intron|C14orf101_uc001xco.2_Intron	NM_017799	NP_060269			hypothetical protein LOC54916							integral to membrane				breast(1)|central_nervous_system(1)	2				OV - Ovarian serous cystadenocarcinoma(311;0.226)														---	---	---	---
ARID4A	5926	broad.mit.edu	37	14	58795072	58795072	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:58795072delA	uc001xdp.2	+						ARID4A_uc001xdo.2_Intron|ARID4A_uc001xdq.2_Intron	NM_002892	NP_002883			retinoblastoma-binding protein 1 isoform I						negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|skin(2)|lung(1)	6																		---	---	---	---
C14orf135	64430	broad.mit.edu	37	14	60592345	60592345	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60592345delT	uc001xer.3	+						C14orf135_uc001xeq.2_Intron|C14orf135_uc010apm.2_Intron	NM_022495	NP_071940			hepatitis C virus F protein-binding protein 2							integral to membrane				ovary(2)	2		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)														---	---	---	---
C14orf39	317761	broad.mit.edu	37	14	60951817	60951817	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:60951817delA	uc001xez.3	-						C14orf39_uc010apo.2_Intron	NM_174978	NP_777638			hypothetical protein LOC317761											ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(108;0.0448)														---	---	---	---
PRKCH	5583	broad.mit.edu	37	14	61917550	61917550	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61917550delT	uc001xfn.2	+						PRKCH_uc010tsa.1_Intron	NM_006255	NP_006246			protein kinase C, eta						intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)														---	---	---	---
SNAPC1	6617	broad.mit.edu	37	14	62243179	62243179	+	Intron	DEL	T	-	-	rs33967758		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:62243179delT	uc001xft.2	+							NM_003082	NP_003073			small nuclear RNA activating complex,						regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding				0				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)														---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63174626	63174626	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:63174626delT	uc001xfx.2	-	11	2618	c.2567delA	c.(2566-2568)AACfs	p.N856fs	KCNH5_uc001xfy.2_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H,	856	Cytoplasmic (Potential).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)														---	---	---	---
KCNH5	27133	broad.mit.edu	37	14	63416716	63416716	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:63416716delA	uc001xfx.2	-						KCNH5_uc001xfy.2_Intron|KCNH5_uc001xfz.1_Intron|KCNH5_uc001xga.2_3'UTR	NM_139318	NP_647479			potassium voltage-gated channel, subfamily H,						regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			ovary(4)|skin(4)|central_nervous_system(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)														---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64468918	64468919	+	Intron	INS	-	T	T	rs12147217	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64468918_64468919insT	uc001xgm.2	+						SYNE2_uc001xgl.2_Intron	NM_015180	NP_055995			spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)														---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64586329	64586330	+	Splice_Site	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:64586329_64586330insA	uc001xgm.2	+	67	13253	c.13023_splice	c.e67+2	p.Q4341_splice	SYNE2_uc001xgl.2_Splice_Site_p.Q4341_splice|SYNE2_uc010apy.2_Splice_Site_p.Q726_splice|SYNE2_uc010apz.1_Splice_Site_p.Q233_splice	NM_015180	NP_055995			spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)														---	---	---	---
MAX	4149	broad.mit.edu	37	14	65551115	65551115	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65551115delA	uc001xif.1	-						MAX_uc001xic.1_Intron|MAX_uc001xie.1_Intron|MAX_uc010aql.1_Intron|MAX_uc001xig.1_Intron|MAX_uc001xih.1_Intron|MAX_uc001xii.1_Intron|MAX_uc001xij.1_Intron|MAX_uc001xik.2_Intron	NM_002382	NP_002373			MAX protein isoform a						transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			lung(1)	1				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)														---	---	---	---
FUT8	2530	broad.mit.edu	37	14	65934509	65934509	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65934509delT	uc001xin.2	+						FUT8_uc001xio.2_Intron|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_Intron|FUT8_uc001xip.2_Intron|FUT8_uc001xiq.2_Intron	NM_178155	NP_835368			fucosyltransferase 8 isoform a						in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			ovary(1)	1				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)														---	---	---	---
GPHN	10243	broad.mit.edu	37	14	67631776	67631776	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:67631776delT	uc001xiy.2	+						GPHN_uc001xix.2_Intron|GPHN_uc010tss.1_Intron|GPHN_uc010tst.1_Intron|GPHN_uc010tsu.1_Intron	NM_001024218	NP_001019389			gephyrin isoform 2						Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			ovary(2)	2		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)				T	MLL	AL								---	---	---	---
ARG2	384	broad.mit.edu	37	14	68087558	68087558	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:68087558delT	uc001xjs.2	+							NM_001172	NP_001163			arginase 2 precursor						arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding				0				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)													---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71485610	71485610	+	Intron	DEL	A	-	-	rs140304586	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71485610delA	uc001xmo.2	+						PCNX_uc010are.1_Intron|PCNX_uc010arf.1_Intron	NM_014982	NP_055797			pecanex-like 1							integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---
NEK9	91754	broad.mit.edu	37	14	75587944	75587944	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75587944delT	uc001xrl.2	-							NM_033116	NP_149107			NIMA-related kinase 9						cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(2)|stomach(2)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00718)														---	---	---	---
TMEM63C	57156	broad.mit.edu	37	14	77709045	77709045	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77709045delT	uc001xtf.2	+						TMEM63C_uc010asq.1_Intron	NM_020431	NP_065164			transmembrane protein 63C							integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)														---	---	---	---
CCDC88C	440193	broad.mit.edu	37	14	91810086	91810086	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91810086delA	uc010aty.2	-						CCDC88C_uc010twk.1_Intron	NM_001080414	NP_001073883			DVL-binding protein DAPLE						microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			ovary(3)	3		all_cancers(154;0.0468)																---	---	---	---
SMEK1	55671	broad.mit.edu	37	14	91937518	91937518	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91937518delT	uc001xzn.2	-						SMEK1_uc001xzm.2_Intron|SMEK1_uc001xzo.2_Intron|SMEK1_uc010atz.2_Intron|SMEK1_uc001xzp.1_Intron	NM_032560	NP_115949			SMEK homolog 1, suppressor of mek1							microtubule organizing center|nucleus	protein binding				0		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)														---	---	---	---
TC2N	123036	broad.mit.edu	37	14	92253792	92253792	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92253792delA	uc001xzu.3	-						TC2N_uc001xzt.3_Intron|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Intron	NM_001128595	NP_001122067			tandem C2 domains, nuclear							nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)														---	---	---	---
TC2N	123036	broad.mit.edu	37	14	92258906	92258906	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92258906delA	uc001xzu.3	-						TC2N_uc001xzt.3_Intron|TC2N_uc010auc.2_Intron|TC2N_uc001xzv.3_Intron	NM_001128595	NP_001122067			tandem C2 domains, nuclear							nucleus				upper_aerodigestive_tract(1)	1				COAD - Colon adenocarcinoma(157;0.218)														---	---	---	---
FBLN5	10516	broad.mit.edu	37	14	92353720	92353721	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92353720_92353721insA	uc001xzx.3	-						FBLN5_uc010aud.2_Intron|FBLN5_uc010aue.2_Intron	NM_006329	NP_006320			fibulin 5 precursor						cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6		all_cancers(154;0.0722)																---	---	---	---
UBR7	55148	broad.mit.edu	37	14	93685401	93685401	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93685401delA	uc001ybm.3	+						UBR7_uc001ybn.3_Intron|UBR7_uc010auq.2_Intron	NM_175748	NP_786924			ubiquitin protein ligase E3 component n-recognin								ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93709547	93709547	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93709547delT	uc001ybo.2	-						BTBD7_uc010aur.2_Intron|BTBD7_uc010two.1_Intron|BTBD7_uc001ybp.2_Intron	NM_001002860	NP_001002860			BTB (POZ) domain containing 7 isoform 1											pancreas(1)	1		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)														---	---	---	---
KIAA1409	57578	broad.mit.edu	37	14	93814196	93814196	+	Intron	DEL	A	-	-	rs112422740		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93814196delA	uc001ybs.1	+						COX8C_uc001ybt.1_Intron	NM_020818	NP_065869			hypothetical protein LOC57578							integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)														---	---	---	---
KIAA1409	57578	broad.mit.edu	37	14	94063474	94063474	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94063474delA	uc001ybv.1	+						KIAA1409_uc001ybs.1_Intron	NM_020818	NP_065869			hypothetical protein LOC57578							integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)														---	---	---	---
KIAA1409	57578	broad.mit.edu	37	14	94084806	94084806	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94084806delA	uc001ybv.1	+						KIAA1409_uc001ybs.1_Intron	NM_020818	NP_065869			hypothetical protein LOC57578							integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)														---	---	---	---
KIAA1409	57578	broad.mit.edu	37	14	94088050	94088050	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94088050delA	uc001ybv.1	+	28	4089	c.4006delA	c.(4006-4008)AAAfs	p.K1336fs	KIAA1409_uc001ybs.1_Frame_Shift_Del_p.K1314fs	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN	hypothetical protein LOC57578	1491						integral to membrane				ovary(10)|skin(4)|large_intestine(3)	17		all_cancers(154;0.0354)|all_epithelial(191;0.216)		Epithelial(152;0.188)														---	---	---	---
SERPINA4	5267	broad.mit.edu	37	14	95035870	95035870	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:95035870delT	uc001ydk.2	+	5	1288	c.1222delT	c.(1222-1224)TTTfs	p.F408fs	SERPINA4_uc010avd.2_Frame_Shift_Del_p.F445fs|SERPINA4_uc001ydl.2_Frame_Shift_Del_p.F408fs	NM_006215	NP_006206	P29622	KAIN_HUMAN	serine (or cysteine) proteinase inhibitor, clade	408					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			ovary(3)|skin(1)	4				COAD - Colon adenocarcinoma(157;0.211)														---	---	---	---
RCOR1	23186	broad.mit.edu	37	14	103173877	103173877	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103173877delT	uc001ymb.2	+							NM_015156	NP_055971			REST corepressor 1						blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			ovary(1)	1																		---	---	---	---
RCOR1	23186	broad.mit.edu	37	14	103192668	103192668	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103192668delA	uc001ymb.2	+							NM_015156	NP_055971			REST corepressor 1						blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			ovary(1)	1																		---	---	---	---
CDC42BPB	9578	broad.mit.edu	37	14	103425947	103425947	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103425947delA	uc001ymi.1	-						CDC42BPB_uc001ymj.1_Intron	NM_006035	NP_006026			CDC42-binding protein kinase beta						actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	103615778	103615778	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103615778delA								TNFAIP2 (12002 upstream) : EIF5 (184715 downstream)																																			---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104271924	104271925	+	Intron	INS	-	GAAG	GAAG			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104271924_104271925insGAAG	uc001yof.1	-						PPP1R13B_uc001yog.1_Intron	NM_015316	NP_056131			apoptosis-stimulating protein of p53, 1						apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)																---	---	---	---
INF2	64423	broad.mit.edu	37	14	105174185	105174185	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105174185delC	uc001ypb.2	+	8	1724	c.1581delC	c.(1579-1581)AGCfs	p.S527fs	INF2_uc010tyi.1_Frame_Shift_Del_p.S527fs|INF2_uc001ypc.2_Frame_Shift_Del_p.S527fs|INF2_uc010awz.1_RNA	NM_022489	NP_071934	Q27J81	INF2_HUMAN	inverted formin 2 isoform 1	527					actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding				0		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)														---	---	---	---
MTA1	9112	broad.mit.edu	37	14	105905104	105905104	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105905104delG	uc001yqx.2	+						MTA1_uc001yqy.2_Intron|MTA1_uc001yqz.1_Intron|MTA1_uc001yra.1_Intron	NM_004689	NP_004680			metastasis associated protein						signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)	2		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)														---	---	---	---
C14orf80	283643	broad.mit.edu	37	14	105960293	105960293	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105960293delG	uc001yrm.2	+						C14orf80_uc001yrj.2_Intron|C14orf80_uc001yrk.2_Intron|C14orf80_uc001yrn.2_Intron|C14orf80_uc001yro.2_Intron|C14orf80_uc010tys.1_Intron	NM_001134875	NP_001128347			hypothetical protein LOC283643 isoform 1												0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.239)														---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106824992	106824993	+	Intron	INS	-	CT	CT	rs147931546	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106824992_106824993insCT	uc010tyt.1	-											Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	107281366	107281367	+	Intron	INS	-	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:107281366_107281367insG	uc010tyt.1	-											Parts of antibodies, mostly variable regions.												0																		---	---	---	---
Unknown	0	broad.mit.edu	37	15	20710570	20710570	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:20710570delA	uc001ytg.2	-						uc010tyx.1_Intron|uc001yth.3_Intron					RecName: Full=Putative HERC2-like protein 3;																														---	---	---	---
Unknown	0	broad.mit.edu	37	15	22448174	22448175	+	IGR	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22448174_22448175delAA								OR4N3P (33789 upstream) : MIR1268 (65054 downstream)																																			---	---	---	---
SNRPN	6638	broad.mit.edu	37	15	25227367	25227367	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25227367delT	uc001ywz.1	+						PAR-SN_uc001yxa.1_RNA|PAR-SN_uc001yxc.2_RNA|PAR-SN_uc001yxb.3_RNA|PAR5_uc001yxd.2_5'Flank					Homo sapiens SNRPN upstream reading frame protein (SNURF) mRNA, complete cds.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	identical protein binding|RNA binding			ovary(1)	1		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)										Prader-Willi_syndrome				---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28479492	28479493	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28479492_28479493delAA	uc001zbj.2	-							NM_004667	NP_004658			hect domain and RLD 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28499435	28499435	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28499435delA	uc001zbj.2	-							NM_004667	NP_004658			hect domain and RLD 2						DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
ARHGAP11A	9824	broad.mit.edu	37	15	32908709	32908709	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:32908709delT	uc001zgy.1	+						ARHGAP11A_uc010ubw.1_Intron|ARHGAP11A_uc001zgw.2_Intron|ARHGAP11A_uc001zgx.2_Intron|ARHGAP11A_uc010ubx.1_Intron	NM_014783	NP_055598			Rho GTPase activating protein 11A isoform 1						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			skin(3)|breast(2)|urinary_tract(1)	6		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)														---	---	---	---
SCG5	6447	broad.mit.edu	37	15	32976685	32976685	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:32976685delT	uc001zha.2	+						SCG5_uc001zgz.2_Intron	NM_001144757	NP_001138229			secretogranin V isoform 1						intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding				0		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)														---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33066565	33066565	+	Intron	DEL	A	-	-	rs76684755		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33066565delA	uc001zhf.3	-							NM_001103184	NP_001096654			formin 1						actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			ovary(1)	1		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34157542	34157542	+	3'UTR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34157542delA	uc001zhi.2	+	104					RYR3_uc010bar.2_3'UTR	NM_001036	NP_001027			ryanodine receptor 3						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)														---	---	---	---
C15orf29	79768	broad.mit.edu	37	15	34439135	34439136	+	Intron	DEL	AC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34439135_34439136delAC	uc001zhp.2	-						C15orf29_uc010ubz.1_3'UTR	NM_024713	NP_078989			hypothetical protein LOC79768							nucleolus				ovary(1)	1		all_lung(180;1.86e-06)		all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229)														---	---	---	---
MEIS2	4212	broad.mit.edu	37	15	37391817	37391817	+	5'UTR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:37391817delA	uc001zjr.2	-	1					MEIS2_uc001zjl.2_5'Flank|MEIS2_uc010ucj.1_5'Flank|MEIS2_uc001zjm.2_5'Flank|MEIS2_uc001zjn.2_5'Flank|MEIS2_uc001zjo.2_5'UTR|MEIS2_uc001zjp.2_5'UTR|MEIS2_uc001zjs.2_5'UTR|MEIS2_uc001zju.2_Intron|MEIS2_uc001zjt.2_Intron	NM_170675	NP_733775			Meis homeobox 2 isoform c						negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)	2		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)														---	---	---	---
EXD1	161829	broad.mit.edu	37	15	41508830	41508830	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41508830delA	uc001znk.2	-						EXD1_uc010ucv.1_Intron	NM_152596	NP_689809			exonuclease 3'-5' domain containing 1						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			ovary(1)	1																		---	---	---	---
LTK	4058	broad.mit.edu	37	15	41797128	41797128	+	Intron	DEL	C	-	-	rs67330001		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41797128delC	uc001zoa.3	-						LTK_uc001zob.3_Intron|LTK_uc010ucx.1_Intron|LTK_uc010bcg.2_Intron	NM_002344	NP_002335			leukocyte receptor tyrosine kinase isoform 1						apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(6)|central_nervous_system(1)	7		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)											TSP Lung(18;0.14)			---	---	---	---
VPS39	23339	broad.mit.edu	37	15	42470926	42470926	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42470926delA	uc001zpd.2	-						VPS39_uc001zpc.2_Intron	NM_015289	NP_056104			vacuolar protein sorting 39						protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			ovary(1)|pancreas(1)|skin(1)	3		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)														---	---	---	---
TMEM62	80021	broad.mit.edu	37	15	43447130	43447130	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43447130delA	uc001zqr.2	+						TMEM62_uc010bda.2_Intron	NM_024956	NP_079232			transmembrane protein 62							integral to membrane				ovary(1)|breast(1)	2		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)														---	---	---	---
CTDSPL2	51496	broad.mit.edu	37	15	44789416	44789416	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:44789416delT	uc001ztr.2	+						CTDSPL2_uc001zts.2_Intron|CTDSPL2_uc001ztt.2_Intron|CTDSPL2_uc010bdv.2_Intron	NM_016396	NP_057480			CTD (carboxy-terminal domain, RNA polymerase II,								phosphoprotein phosphatase activity				0		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)														---	---	---	---
CTDSPL2	51496	broad.mit.edu	37	15	44811329	44811330	+	Intron	INS	-	TT	TT			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:44811329_44811330insTT	uc001ztr.2	+						CTDSPL2_uc001zts.2_Intron|CTDSPL2_uc001ztt.2_Intron|CTDSPL2_uc010bdv.2_Intron	NM_016396	NP_057480			CTD (carboxy-terminal domain, RNA polymerase II,								phosphoprotein phosphatase activity				0		all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905)														---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44887360	44887360	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:44887360delA	uc001ztx.2	-						SPG11_uc010ueh.1_Intron|SPG11_uc010uei.1_Intron|SPG11_uc001zty.1_Intron	NM_025137	NP_079413			spatacsin isoform 1						cell death	cytosol|integral to membrane|nucleus	protein binding			ovary(4)|skin(1)	5		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)														---	---	---	---
C15orf33	196951	broad.mit.edu	37	15	49658246	49658246	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:49658246delT	uc001zxl.2	-							NM_152647	NP_689860			hypothetical protein LOC196951											ovary(1)	1		all_lung(180;0.00187)		all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124)														---	---	---	---
ATP8B4	79895	broad.mit.edu	37	15	50226445	50226445	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50226445delA	uc001zxu.2	-						ATP8B4_uc010ber.2_Intron|ATP8B4_uc010ufd.1_Intron|ATP8B4_uc010ufe.1_Intron	NM_024837	NP_079113			ATPase class I type 8B member 4						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			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)														---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51757107	51757108	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51757107_51757108insA	uc002abf.2	-						DMXL2_uc002abd.2_Intron|DMXL2_uc010ufy.1_Intron|DMXL2_uc010bfa.2_Intron	NM_015263	NP_056078			Dmx-like 2							cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)														---	---	---	---
TMOD3	29766	broad.mit.edu	37	15	52201131	52201131	+	3'UTR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52201131delT	uc002abm.2	+	10					TMOD3_uc010bfc.1_Intron|TMOD3_uc002abn.2_5'Flank	NM_014547	NP_055362			tropomodulin 3 (ubiquitous)							cytoplasm|cytoskeleton	actin binding|tropomyosin binding			ovary(1)	1				all cancers(107;0.00194)														---	---	---	---
Unknown	0	broad.mit.edu	37	15	52388055	52388056	+	IGR	DEL	AG	-	-	rs74749622		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52388055_52388056delAG								MAPK6 (29594 upstream) : BCL2L10 (13768 downstream)																																			---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54707020	54707020	+	Intron	DEL	T	-	-	rs79011399		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54707020delT	uc002ack.2	+						UNC13C_uc002acl.2_Intron	NM_001080534	NP_001074003			unc-13 homolog C						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)														---	---	---	---
UNC13C	440279	broad.mit.edu	37	15	54915983	54915983	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:54915983delT	uc002ack.2	+						UNC13C_uc002acm.2_Intron	NM_001080534	NP_001074003			unc-13 homolog C						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)														---	---	---	---
RFX7	64864	broad.mit.edu	37	15	56386881	56386881	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56386881delG	uc010bfn.2	-	9	3045	c.3045delC	c.(3043-3045)CCCfs	p.P1015fs	RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Frame_Shift_Del_p.P829fs	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	regulatory factor X domain containing 2	918					regulation of transcription, DNA-dependent	nucleus	DNA binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	15	56615551	56615552	+	IGR	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56615551_56615552insA								RFX7 (80068 upstream) : TEX9 (42092 downstream)																																			---	---	---	---
ZNF280D	54816	broad.mit.edu	37	15	56958908	56958908	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:56958908delT	uc002adu.2	-	15	2039	c.1822delA	c.(1822-1824)AGTfs	p.S608fs	ZNF280D_uc002adv.2_Frame_Shift_Del_p.S595fs|ZNF280D_uc010bfq.2_Frame_Shift_Del_p.S608fs|ZNF280D_uc002adw.1_Frame_Shift_Del_p.S636fs|ZNF280D_uc010bfr.1_RNA|ZNF280D_uc010bfp.2_RNA	NM_017661	NP_060131	Q6N043	Z280D_HUMAN	suppressor of hairy wing homolog 4 isoform 1	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)														---	---	---	---
ALDH1A2	8854	broad.mit.edu	37	15	58272243	58272244	+	Intron	INS	-	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:58272243_58272244insG	uc002aex.2	-						ALDH1A2_uc002aey.2_Intron|ALDH1A2_uc010ugv.1_Intron|ALDH1A2_uc010ugw.1_Intron|ALDH1A2_uc002aew.2_Intron	NM_003888	NP_003879			aldehyde dehydrogenase 1A2 isoform 1						negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)													---	---	---	---
BNIP2	663	broad.mit.edu	37	15	59963289	59963290	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59963289_59963290delAA	uc010uhc.1	-						BNIP2_uc002agi.3_5'Flank|BNIP2_uc010uhb.1_Intron	NM_004330	NP_004321			BCL2/adenovirus E1B 19kD interacting protein 2						anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			ovary(1)	1																		---	---	---	---
TLN2	83660	broad.mit.edu	37	15	62985218	62985218	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62985218delA	uc002alb.3	+							NM_015059	NP_055874			talin 2						cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---
TRIP4	9325	broad.mit.edu	37	15	64686385	64686385	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64686385delT	uc002anm.2	+							NM_016213	NP_057297			thyroid hormone receptor interactor 4						positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
TRIP4	9325	broad.mit.edu	37	15	64690104	64690105	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64690104_64690105insT	uc002anm.2	+							NM_016213	NP_057297			thyroid hormone receptor interactor 4						positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
DPP8	54878	broad.mit.edu	37	15	65746475	65746478	+	Intron	DEL	AAAA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65746475_65746478delAAAA	uc002aov.2	-						DPP8_uc002aow.2_Intron|DPP8_uc010uiv.1_Intron|DPP8_uc002aox.2_Intron|DPP8_uc002aoy.2_Intron|DPP8_uc002aoz.2_Intron|DPP8_uc010bhj.2_Intron|DPP8_uc002apa.2_Intron|DPP8_uc010bhi.2_Intron|DPP8_uc010bhk.1_Intron	NM_130434	NP_569118			dipeptidyl peptidase 8 isoform 1						immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			ovary(1)	1																		---	---	---	---
KIF23	9493	broad.mit.edu	37	15	69739317	69739317	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69739317delT	uc002asb.2	+						KIF23_uc002asc.2_Intron|KIF23_uc010bii.2_Intron|KIF23_uc010ukc.1_Intron	NM_138555	NP_612565			kinesin family member 23 isoform 1						blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0																		---	---	---	---
UACA	55075	broad.mit.edu	37	15	70957158	70957158	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:70957158delA	uc002asr.2	-						UACA_uc010uke.1_Intron|UACA_uc002asq.2_Intron	NM_018003	NP_060473			uveal autoantigen with coiled-coil domains and							cytoskeleton|extracellular region				ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
ARID3B	10620	broad.mit.edu	37	15	74836159	74836159	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74836159delT	uc002aye.2	+						ARID3B_uc002ayc.2_Intron|ARID3B_uc002ayd.2_Intron	NM_006465	NP_006456			AT rich interactive domain 3B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding				0																		---	---	---	---
LMAN1L	79748	broad.mit.edu	37	15	75111459	75111459	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75111459delC	uc002ayt.1	+						LMAN1L_uc010bkd.2_Intron|LMAN1L_uc010ulo.1_Intron|LMAN1L_uc010bke.1_Intron	NM_021819	NP_068591			lectin, mannose-binding, 1 like precursor							ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding				0																		---	---	---	---
SIN3A	25942	broad.mit.edu	37	15	75702784	75702784	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75702784delA	uc002bai.2	-						SIN3A_uc002baj.2_Intron|SIN3A_uc010uml.1_Intron	NM_015477	NP_056292			transcriptional co-repressor Sin3A						blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5																		---	---	---	---
SIN3A	25942	broad.mit.edu	37	15	75706706	75706707	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75706706_75706707delAA	uc002bai.2	-						SIN3A_uc002baj.2_Intron|SIN3A_uc010uml.1_Intron	NM_015477	NP_056292			transcriptional co-repressor Sin3A						blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			skin(3)|ovary(1)|lung(1)	5																		---	---	---	---
UBE2Q2	92912	broad.mit.edu	37	15	76161161	76161162	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:76161161_76161162insT	uc002bbg.2	+						UBE2Q2_uc002bbh.2_Intron|UBE2Q2_uc010umn.1_Intron|UBE2Q2_uc002bbi.2_Intron	NM_173469	NP_775740			ubiquitin-conjugating enzyme E2Q 2 isoform 1						protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			ovary(2)	2																		---	---	---	---
TBC1D2B	23102	broad.mit.edu	37	15	78310307	78310307	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78310307delA	uc002bcy.3	-						TBC1D2B_uc010bla.2_Intron|TBC1D2B_uc002bda.2_5'Flank	NM_144572	NP_653173			TBC1 domain family, member 2B isoform a							intracellular	protein binding|Rab GTPase activator activity			ovary(1)|large_intestine(1)|breast(1)	3																		---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84690439	84690439	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:84690439delT	uc002bjz.3	+						ADAMTSL3_uc010bmt.1_Intron|ADAMTSL3_uc010bmu.1_Intron	NM_207517	NP_997400			ADAMTS-like 3 precursor							proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)															---	---	---	---
SLC28A1	9154	broad.mit.edu	37	15	85443229	85443232	+	Intron	DEL	AGGC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85443229_85443232delAGGC	uc002blg.2	+						SLC28A1_uc010upd.1_Intron|SLC28A1_uc010bnb.2_Intron|SLC28A1_uc010upe.1_Intron|SLC28A1_uc010upf.1_Intron|SLC28A1_uc010upg.1_Intron	NM_004213	NP_004204			solute carrier family 28, member 1 isoform 1						nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			skin(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
PDE8A	5151	broad.mit.edu	37	15	85619082	85619082	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85619082delT	uc002blh.2	+						PDE8A_uc002bli.2_Intron|PDE8A_uc010bnc.2_Intron|PDE8A_uc010bnd.2_Intron|PDE8A_uc002blj.2_Intron|PDE8A_uc002blk.2_Intron	NM_002605	NP_002596			phosphodiesterase 8A isoform 1						cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)															---	---	---	---
HAPLN3	145864	broad.mit.edu	37	15	89424960	89424960	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89424960delG	uc002bnc.2	-						HAPLN3_uc002bne.2_Intron|HAPLN3_uc002bnd.2_Intron	NM_178232	NP_839946			hyaluronan and proteoglycan link protein 3						cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)																	---	---	---	---
C15orf42	90381	broad.mit.edu	37	15	90167670	90167670	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90167670delC	uc002boe.2	+	20	4129	c.4129delC	c.(4129-4131)CCCfs	p.P1377fs	C15orf42_uc010upv.1_RNA	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	leucine-rich repeat kinase 1	1377	Pro-rich.				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			ovary(4)|central_nervous_system(2)|skin(1)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)															---	---	---	---
Unknown	0	broad.mit.edu	37	15	90825347	90825347	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90825347delT								TTLL13 (9904 upstream) : GABARAPL3 (64418 downstream)																																			---	---	---	---
SELS	55829	broad.mit.edu	37	15	101816620	101816620	+	Intron	DEL	T	-	-	rs66734613		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101816620delT	uc010use.1	-						SELS_uc010usf.1_Intron	NM_203472	NP_982298			selenoprotein S						anti-apoptosis|cell redox homeostasis|cellular response to insulin stimulus|cellular response to lipopolysaccharide|cellular response to oxidative stress|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|negative regulation of acute inflammatory response to antigenic stimulus|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of interleukin-6 production|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of tumor necrosis factor production|regulation of gluconeogenesis|regulation of nitric oxide metabolic process|response to glucose stimulus|response to redox state|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane|low-density lipoprotein particle|microsome|plasma membrane|very-low-density lipoprotein particle	antioxidant activity|enzyme binding|receptor activity|selenium binding				0	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)															---	---	---	---
TELO2	9894	broad.mit.edu	37	16	1552412	1552412	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1552412delG	uc002cly.2	+							NM_016111	NP_057195			TEL2, telomere maintenance 2, homolog							chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)																---	---	---	---
NUBP2	10101	broad.mit.edu	37	16	1836796	1836796	+	Frame_Shift_Del	DEL	C	-	-	rs2235648	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1836796delC	uc002cmw.3	+	3	263	c.174delC	c.(172-174)ATCfs	p.I58fs	NUBP2_uc002cmx.3_Intron|NUBP2_uc010brx.2_5'UTR	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2 (MinD homolog, E.	58						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding				0																		---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3843434	3843434	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3843434delT	uc002cvv.2	-	4	1373	c.1169delA	c.(1168-1170)AACfs	p.N390fs	CREBBP_uc002cvw.2_Frame_Shift_Del_p.N390fs	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	390	TAZ-type 1.|Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)				T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				---	---	---	---
SRL	6345	broad.mit.edu	37	16	4245372	4245373	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4245372_4245373insT	uc002cvz.3	-						SRL_uc002cvy.3_Intron	NM_001098814	NP_001092284			sarcalumenin							sarcoplasmic reticulum lumen	GTP binding|GTPase activity			ovary(3)|skin(2)	5																		---	---	---	---
C16orf71	146562	broad.mit.edu	37	16	4788056	4788056	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4788056delT	uc002cxn.2	+							NM_139170	NP_631909			hypothetical protein LOC146562											central_nervous_system(1)	1																		---	---	---	---
A2BP1	54715	broad.mit.edu	37	16	7645674	7645674	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:7645674delT	uc002cys.2	+						A2BP1_uc010buf.1_Intron|A2BP1_uc002cyr.1_Intron|A2BP1_uc002cyt.2_Intron|A2BP1_uc010uxz.1_Intron|A2BP1_uc010uya.1_Intron|A2BP1_uc002cyv.1_Intron|A2BP1_uc010uyb.1_Intron|A2BP1_uc002cyw.2_Intron|A2BP1_uc002cyy.2_Intron|A2BP1_uc002cyx.2_Intron|A2BP1_uc010uyc.1_Intron	NM_018723	NP_061193			ataxin 2-binding protein 1 isoform 4						mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding				0		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)														---	---	---	---
ABAT	18	broad.mit.edu	37	16	8842084	8842085	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8842084_8842085insA	uc002czc.3	+						ABAT_uc002czd.3_Intron|ABAT_uc010buh.2_Intron|ABAT_uc010bui.2_Intron	NM_020686	NP_065737			4-aminobutyrate aminotransferase precursor						behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			upper_aerodigestive_tract(1)	1					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)													---	---	---	---
ABAT	18	broad.mit.edu	37	16	8868585	8868585	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8868585delT	uc002czc.3	+						ABAT_uc002czd.3_Intron|ABAT_uc010buh.2_Intron|ABAT_uc010bui.2_Intron	NM_020686	NP_065737			4-aminobutyrate aminotransferase precursor						behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			upper_aerodigestive_tract(1)	1					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)													---	---	---	---
Unknown	0	broad.mit.edu	37	16	9250236	9250237	+	IGR	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:9250236_9250237delTT								C16orf72 (36691 upstream) : GRIN2A (597030 downstream)																																			---	---	---	---
ATF7IP2	80063	broad.mit.edu	37	16	10551547	10551547	+	Intron	DEL	T	-	-	rs57240502		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:10551547delT	uc002czu.2	+						ATF7IP2_uc002czv.2_Intron|ATF7IP2_uc010uyo.1_Intron|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Intron|ATF7IP2_uc010uyq.1_Intron	NM_024997	NP_079273			activating transcription factor 7 interacting						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus					0																		---	---	---	---
CLEC16A	23274	broad.mit.edu	37	16	11071363	11071363	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11071363delT	uc002dao.2	+						CLEC16A_uc002dan.3_Intron	NM_015226	NP_056041			C-type lectin domain family 16, member A											ovary(1)|central_nervous_system(1)	2																		---	---	---	---
CPPED1	55313	broad.mit.edu	37	16	12874968	12874968	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:12874968delT	uc002dca.3	-						CPPED1_uc002dcb.3_Intron	NM_018340	NP_060810			calcineurin-like phosphoesterase domain								hydrolase activity|metal ion binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	16	12936326	12936326	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:12936326delT								CPPED1 (38582 upstream) : SHISA9 (59151 downstream)																																			---	---	---	---
RRN3	54700	broad.mit.edu	37	16	15159238	15159238	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15159238delA	uc002dde.2	-						PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Intron|RRN3_uc010uzq.1_Intron	NM_018427	NP_060897			RRN3 RNA polymerase I transcription factor						regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm				ovary(1)	1																		---	---	---	---
ABCC1	4363	broad.mit.edu	37	16	16108305	16108305	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16108305delA	uc010bvi.2	+						ABCC1_uc010bvj.2_Intron|ABCC1_uc010bvk.2_Intron|ABCC1_uc010bvl.2_Intron|ABCC1_uc010bvm.2_Intron|ABCC1_uc002del.3_Intron|ABCC1_uc010bvn.2_5'Flank	NM_004996	NP_004987			ATP-binding cassette, sub-family C, member 1						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			ovary(4)	4					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)													---	---	---	---
ABCC6	368	broad.mit.edu	37	16	16282841	16282841	+	Intron	DEL	G	-	-	rs61480102	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16282841delG	uc002den.3	-						ABCC6_uc010bvo.2_Intron|ABCC6_uc010uzz.1_Intron	NM_001171	NP_001162			ATP-binding cassette, sub-family C, member 6						response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)														---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18883764	18883764	+	Intron	DEL	A	-	-	rs117332168	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18883764delA	uc002dfm.2	-						SMG1_uc010bwb.2_Intron	NM_015092	NP_055907			PI-3-kinase-related kinase SMG-1						DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16																		---	---	---	---
TMC5	79838	broad.mit.edu	37	16	19488577	19488577	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19488577delA	uc002dgc.3	+						TMC5_uc010vaq.1_Intron|TMC5_uc002dgb.3_Intron|TMC5_uc010var.1_Intron|TMC5_uc002dgd.1_Intron|TMC5_uc002dge.3_Intron|TMC5_uc002dgf.3_Intron|TMC5_uc002dgg.3_Intron	NM_001105248	NP_001098718			transmembrane channel-like 5 isoform a							integral to membrane				skin(1)	1																		---	---	---	---
LOC81691	81691	broad.mit.edu	37	16	20843544	20843544	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20843544delA	uc002dhv.2	+	12	1488	c.1225delA	c.(1225-1227)AAAfs	p.K409fs	ERI2_uc002dht.3_Intron|LOC81691_uc002dhx.2_Frame_Shift_Del_p.K409fs|LOC81691_uc002dhw.2_Frame_Shift_Del_p.K152fs|LOC81691_uc002dhy.3_Frame_Shift_Del_p.K409fs	NM_030941	NP_112203	Q96IC2	REXON_HUMAN	exonuclease NEF-sp isoform 1	409						nucleolus	exonuclease activity|nucleotide binding|RNA binding			ovary(1)|kidney(1)	2																		---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20986308	20986313	+	Intron	DEL	TTTTTT	-	-	rs35783206		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20986308_20986313delTTTTTT	uc010vbe.1	-						DNAH3_uc010vbd.1_Intron	NM_017539	NP_060009			dynein, axonemal, heavy chain 3						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	21071836	21071836	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21071836delT	uc010vbe.1	-							NM_017539	NP_060009			dynein, axonemal, heavy chain 3						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
METTL9	51108	broad.mit.edu	37	16	21654502	21654502	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21654502delT	uc002dje.2	+						uc002diq.3_Intron|METTL9_uc002djf.2_Intron|IGSF6_uc002djg.1_Intron	NM_016025	NP_057109			methyltransferase like 9 isoform 1											ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0759)														---	---	---	---
USP31	57478	broad.mit.edu	37	16	23085340	23085340	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23085340delA	uc002dll.2	-						USP31_uc002dlk.2_5'Flank|USP31_uc010vca.1_5'UTR|USP31_uc010bxm.2_Intron	NM_020718	NP_065769			ubiquitin specific peptidase 31						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)														---	---	---	---
PALB2	79728	broad.mit.edu	37	16	23646981	23646981	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23646981delT	uc002dlx.1	-	4	1086	c.886delA	c.(886-888)ATGfs	p.M296fs		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	296	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1)	11				GBM - Glioblastoma multiforme(48;0.0167)				F|N|Mis			Wilms tumor|medulloblastoma|AML ,breast		Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of				---	---	---	---
ERN2	10595	broad.mit.edu	37	16	23703340	23703340	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23703340delG	uc002dma.3	-	19	2633	c.2464delC	c.(2464-2466)CAGfs	p.Q822fs	ERN2_uc010bxp.2_Frame_Shift_Del_p.Q770fs	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signalling 2	774	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)														---	---	---	---
Unknown	0	broad.mit.edu	37	16	28606578	28606578	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28606578delT	uc010vct.1	-						SULT1A2_uc002dqg.1_Intron|SULT1A2_uc002dqh.1_Intron					RecName: Full=Nuclear pore complex-interacting protein-like 2; Flags: Precursor;																														---	---	---	---
ATP2A1	487	broad.mit.edu	37	16	28890284	28890285	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28890284_28890285insT	uc002dro.1	+						uc010vct.1_Intron|ATP2A1_uc002drn.1_Intron|ATP2A1_uc002drp.1_5'Flank	NM_173201	NP_775293			ATPase, Ca++ transporting, fast twitch 1 isoform						apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
ATP2A1	487	broad.mit.edu	37	16	28915340	28915340	+	Intron	DEL	G	-	-	rs10718640		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28915340delG	uc002dro.1	+						uc010vct.1_Intron|ATP2A1_uc002drn.1_Intron|ATP2A1_uc002drp.1_Intron	NM_173201	NP_775293			ATPase, Ca++ transporting, fast twitch 1 isoform						apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
CDIPT	10423	broad.mit.edu	37	16	29870901	29870901	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29870901delC	uc002dum.2	-						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|CDIPT_uc002duk.2_Intron|CDIPT_uc002dul.2_Intron|CDIPT_uc002dun.2_Intron	NM_006319	NP_006310			CDP-diacylglycerol-inositol							endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	CDP-diacylglycerol-inositol 3-phosphatidyltransferase activity|phosphatidylinositol transporter activity				0																		---	---	---	---
INO80E	283899	broad.mit.edu	37	16	30007665	30007665	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30007665delA	uc002dvg.1	+	1	135	c.34delA	c.(34-36)AAAfs	p.K12fs	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_RNA|INO80E_uc002dvi.1_Frame_Shift_Del_p.K12fs|INO80E_uc002dvj.1_RNA|INO80E_uc002dvk.1_Frame_Shift_Del_p.K12fs|HIRIP3_uc002dve.2_5'Flank|HIRIP3_uc002dvf.2_5'Flank	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	12	Potential.				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				skin(1)	1																		---	---	---	---
MAPK3	5595	broad.mit.edu	37	16	30134452	30134452	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30134452delC	uc002dws.2	-	1	179	c.79delG	c.(79-81)GAGfs	p.E27fs	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.2_5'Flank|MAPK3_uc002dwv.3_Frame_Shift_Del_p.E27fs|MAPK3_uc002dwt.2_Frame_Shift_Del_p.E27fs|MAPK3_uc002dwu.2_RNA|MAPK3_uc010bzp.2_RNA	NM_002746	NP_002737	P27361	MK03_HUMAN	mitogen-activated protein kinase 3 isoform 1	27					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding				0					Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)													---	---	---	---
LOC595101	595101	broad.mit.edu	37	16	30291742	30291742	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30291742delA	uc002dxp.1	-							NR_002453				Homo sapiens cDNA FLJ39663 fis, clone SMINT2007187.												0																		---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31072706	31072706	+	Frame_Shift_Del	DEL	G	-	-	rs77284397		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31072706delG	uc010caf.2	-	3	1900	c.1543delC	c.(1543-1545)CAGfs	p.Q515fs	ZNF668_uc002eao.2_Frame_Shift_Del_p.Q515fs	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4																		---	---	---	---
ITFG1	81533	broad.mit.edu	37	16	47189455	47189455	+	3'UTR	DEL	A	-	-	rs35044892		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:47189455delA	uc002eet.2	-	18					ITFG1_uc010vgg.1_3'UTR|ITFG1_uc010vgh.1_3'UTR	NM_030790	NP_110417			integrin alpha FG-GAP repeat containing 1							extracellular region|integral to membrane				ovary(1)|central_nervous_system(1)	2		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)																---	---	---	---
ITFG1	81533	broad.mit.edu	37	16	47292700	47292700	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:47292700delA	uc002eet.2	-						ITFG1_uc010vgg.1_Intron|ITFG1_uc010vgh.1_Intron	NM_030790	NP_110417			integrin alpha FG-GAP repeat containing 1							extracellular region|integral to membrane				ovary(1)|central_nervous_system(1)	2		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)																---	---	---	---
PHKB	5257	broad.mit.edu	37	16	47581481	47581481	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:47581481delT	uc002eev.3	+						PHKB_uc002eeu.3_Intron	NM_000293	NP_000284			phosphorylase kinase, beta isoform a						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			ovary(1)|large_intestine(1)|breast(1)	3		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)																---	---	---	---
N4BP1	9683	broad.mit.edu	37	16	48577216	48577217	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:48577216_48577217insA	uc002efp.2	-							NM_153029	NP_694574			Nedd4 binding protein 1						negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body					0		all_cancers(37;0.179)|all_lung(18;0.11)																---	---	---	---
HEATR3	55027	broad.mit.edu	37	16	50128484	50128484	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50128484delT	uc002efw.2	+						HEATR3_uc002efx.2_Intron	NM_182922	NP_891552			HEAT repeat containing 3								binding			ovary(1)|skin(1)	2																		---	---	---	---
CYLD	1540	broad.mit.edu	37	16	50827410	50827410	+	Intron	DEL	T	-	-	rs77678929		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:50827410delT	uc002egp.1	+						CYLD_uc010cbs.1_Intron|CYLD_uc002egq.1_Intron|CYLD_uc002egr.1_Intron	NM_015247	NP_056062			ubiquitin carboxyl-terminal hydrolase CYLD						cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28		all_cancers(37;0.0156)						Mis|N|F|S		cylindroma	cylindroma			Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial				---	---	---	---
Unknown	0	broad.mit.edu	37	16	55819508	55819508	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:55819508delT								CES4 (10684 upstream) : CES1 (17258 downstream)																																			---	---	---	---
BBS2	583	broad.mit.edu	37	16	56532619	56532620	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56532619_56532620delAA	uc002ejd.2	-						BBS2_uc010ccg.2_3'UTR	NM_031885	NP_114091			Bardet-Biedl syndrome 2 protein						adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			ovary(1)	1														Bardet-Biedl_syndrome				---	---	---	---
MT1F	4494	broad.mit.edu	37	16	56693131	56693131	+	3'UTR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56693131delT	uc002ejt.2	+	3						NM_005949	NP_005940			metallothionein 1F							cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding				0																		---	---	---	---
SLC12A3	6559	broad.mit.edu	37	16	56921123	56921123	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56921123delT	uc010ccm.2	+						SLC12A3_uc002ekd.3_Intron|SLC12A3_uc010ccn.2_Intron	NM_001126108	NP_001119580			solute carrier family 12, member 3 isoform 3						sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			ovary(2)|breast(1)	3					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)													---	---	---	---
CX3CL1	6376	broad.mit.edu	37	16	57406450	57406450	+	5'UTR	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57406450delC	uc002eli.2	+	1						NM_002996	NP_002987			chemokine (C-X3-C motif) ligand 1 precursor						cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity				0																		---	---	---	---
C16orf57	79650	broad.mit.edu	37	16	58048101	58048101	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58048101delT	uc002emz.2	+						C16orf57_uc010vib.1_Intron	NM_024598	NP_078874			hypothetical protein LOC79650												0																		---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58622855	58622856	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58622855_58622856delAA	uc002env.2	-						CNOT1_uc002enw.2_Intron|CNOT1_uc002enu.3_Intron|CNOT1_uc002enx.2_Intron|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368			CCR4-NOT transcription complex, subunit 1						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)														---	---	---	---
DYNC1LI2	1783	broad.mit.edu	37	16	66769891	66769891	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66769891delA	uc002eqb.1	-						DYNC1LI2_uc010vis.1_Intron|DYNC1LI2_uc010vit.1_Intron|DYNC1LI2_uc010viu.1_Intron	NM_006141	NP_006132			dynein, cytoplasmic, light intermediate						transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|skin(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)														---	---	---	---
CBFB	865	broad.mit.edu	37	16	67070809	67070809	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67070809delT	uc002era.2	+						CBFB_uc002erb.2_Intron|CBFB_uc010vja.1_Intron	NM_001755	NP_001746			core-binding factor, beta subunit isoform 2						transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)	2		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)				T	MYH11	AML								---	---	---	---
PRMT7	54496	broad.mit.edu	37	16	68373626	68373626	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68373626delA	uc002evy.1	+						PRMT7_uc002evx.1_Intron|PRMT7_uc010vlg.1_Intron|PRMT7_uc002evz.1_Intron	NM_019023	NP_061896			protein arginine methyltransferase 7						cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)														---	---	---	---
CDH3	1001	broad.mit.edu	37	16	68725950	68725950	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68725950delT	uc002ewf.2	+						CDH3_uc010vli.1_Intron	NM_001793	NP_001784			cadherin 3, type 1 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(1)		ovary(3)|breast(1)|skin(1)	5		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)														---	---	---	---
TMCO7	79613	broad.mit.edu	37	16	68952940	68952940	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68952940delT	uc002ewi.3	+							NM_024562	NP_078838			transmembrane and coiled-coil domains 7							integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)														---	---	---	---
COG8	84342	broad.mit.edu	37	16	69362823	69362824	+	3'UTR	DEL	AT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69362823_69362824delAT	uc002ewy.2	-	6					PDF_uc002ewx.1_3'UTR	NM_032382	NP_115758			component of oligomeric golgi complex 8						protein transport	Golgi membrane|Golgi transport complex				ovary(1)	1																		---	---	---	---
CLEC18C	283971	broad.mit.edu	37	16	70016470	70016472	+	Intron	DEL	AGA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70016470_70016472delAGA	uc002exy.2	+						PDXDC2_uc002eyb.2_Intron|PDXDC2_uc002eyc.2_Intron|PDXDC2_uc010vlq.1_Intron	NM_182619	NP_872425			secretory protein LOC348174 precursor							extracellular region	sugar binding				0																		---	---	---	---
SF3B3	23450	broad.mit.edu	37	16	70566267	70566271	+	Intron	DEL	AAAAG	-	-	rs116505546		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70566267_70566271delAAAAG	uc002ezf.2	+							NM_012426	NP_036558			splicing factor 3b, subunit 3						protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---
SF3B3	23450	broad.mit.edu	37	16	70605046	70605046	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70605046delC	uc002ezf.2	+	25	3668	c.3457delC	c.(3457-3459)CCCfs	p.P1153fs		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3	1153					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---
PMFBP1	83449	broad.mit.edu	37	16	72163189	72163189	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72163189delA	uc002fcc.3	-						PMFBP1_uc002fcd.2_Intron|PMFBP1_uc002fce.2_Intron|PMFBP1_uc002fcf.2_Intron|PMFBP1_uc010cgo.1_5'Flank	NM_031293	NP_112583			polyamine modulated factor 1 binding protein 1											ovary(2)	2		Ovarian(137;0.179)																---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81155069	81155069	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81155069delA	uc002fgh.1	-						PKD1L2_uc002fgf.1_Intron|PKD1L2_uc002fgg.1_Intron	NM_052892	NP_443124			polycystin 1-like 2 isoform a						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81250141	81250142	+	Intron	DEL	CT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81250141_81250142delCT	uc002fgh.1	-						PKD1L2_uc002fgj.2_Intron	NM_052892	NP_443124			polycystin 1-like 2 isoform a						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
ATP2C2	9914	broad.mit.edu	37	16	84456440	84456440	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84456440delT	uc002fhx.2	+						ATP2C2_uc010chj.2_Intron|ATP2C2_uc002fhy.2_Intron|ATP2C2_uc002fhz.2_Intron	NM_014861	NP_055676			ATPase, Ca++ transporting, type 2C, member 2						ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)	2																		---	---	---	---
CA5A	763	broad.mit.edu	37	16	87926753	87926753	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:87926753delT	uc002fkn.1	-							NM_001739	NP_001730			carbonic anhydrase VA, mitochondrial precursor						one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(80;0.0513)														---	---	---	---
RILP	83547	broad.mit.edu	37	17	1551618	1551619	+	Intron	INS	-	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1551618_1551619insC	uc002ftd.2	-						SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	NM_031430	NP_113618			Rab interacting lysosomal protein						endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			ovary(1)	1				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)														---	---	---	---
MNT	4335	broad.mit.edu	37	17	2297500	2297500	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2297500delG	uc002fur.2	-							NM_020310	NP_064706			MAX binding protein						multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			skin(1)	1				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)														---	---	---	---
Unknown	0	broad.mit.edu	37	17	3895164	3895165	+	IGR	DEL	TC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3895164_3895165delTC								ATP2A3 (27428 upstream) : ZZEF1 (12575 downstream)																																			---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	4009253	4009253	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4009253delT	uc002fxe.2	-						ZZEF1_uc002fxk.1_Intron	NM_015113	NP_055928			zinc finger, ZZ type with EF hand domain 1								calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
PELP1	27043	broad.mit.edu	37	17	4575894	4575894	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4575894delG	uc002fyi.3	-	16	2618	c.2392delC	c.(2392-2394)CTGfs	p.L798fs	PELP1_uc010vsf.1_Frame_Shift_Del_p.L651fs	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	proline, glutamic acid and leucine rich protein	798	Pro-rich.				transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
RNF167	26001	broad.mit.edu	37	17	4844344	4844345	+	Intron	INS	-	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4844344_4844345insG	uc002fzq.2	+						SLC25A11_uc002fzo.1_5'Flank|SLC25A11_uc002fzp.1_5'Flank|RNF167_uc002fzr.2_Intron|RNF167_uc002fzs.2_Intron|RNF167_uc002fzt.2_Intron|RNF167_uc002fzu.2_Intron|RNF167_uc002fzv.2_Intron|RNF167_uc002fzw.1_Intron|RNF167_uc002fzx.2_Intron|RNF167_uc002fzy.2_5'Flank	NM_015528	NP_056343			ring finger protein 167 precursor						negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4875738	4875738	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4875738delG	uc002gah.1	-	16	2705	c.2597delC	c.(2596-2598)CCTfs	p.P866fs	CAMTA2_uc010cku.1_Frame_Shift_Del_p.P889fs|CAMTA2_uc002gag.1_Frame_Shift_Del_p.P865fs|CAMTA2_uc002gai.1_Frame_Shift_Del_p.P868fs|CAMTA2_uc010ckv.1_Frame_Shift_Del_p.P513fs	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	866					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																		---	---	---	---
RPAIN	84268	broad.mit.edu	37	17	5324579	5324579	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5324579delT	uc002gbq.2	+						NUP88_uc002gbo.1_5'Flank|NUP88_uc010vsx.1_5'Flank|NUP88_uc010cle.1_5'Flank|NUP88_uc010vsy.1_5'Flank|RPAIN_uc010vsz.1_Intron|RPAIN_uc002gbp.1_Intron|RPAIN_uc010vta.1_Intron|RPAIN_uc010vtb.1_Intron|RPAIN_uc002gbs.2_Intron|RPAIN_uc002gbt.2_Intron|RPAIN_uc002gbu.2_Intron|RPAIN_uc002gbv.2_Intron|RPAIN_uc002gbr.2_Intron|RPAIN_uc002gbw.2_Intron	NM_001033002	NP_001028174			RPA interacting protein isoform b						DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|cytoplasm|nucleolus|PML body|PML body	metal ion binding|protein complex binding				0																		---	---	---	---
RPL26	6154	broad.mit.edu	37	17	8285317	8285318	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8285317_8285318insT	uc002glh.1	-							NM_000987	NP_000978			ribosomal protein L26						endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome				0																		---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8415786	8415786	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8415786delT	uc002gll.2	-	22	2938	c.2842delA	c.(2842-2844)ATGfs	p.M948fs	MYH10_uc002glm.2_Frame_Shift_Del_p.M979fs|MYH10_uc010cnx.2_Frame_Shift_Del_p.M957fs	NM_005964	NP_005955	P35580	MYH10_HUMAN	myosin, heavy polypeptide 10, non-muscle	948	Potential.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(2)	2																		---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10216089	10216089	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10216089delT	uc002gmk.1	-							NM_003802	NP_003793			myosin, heavy polypeptide 13, skeletal muscle						muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6																		---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10545432	10545433	+	Intron	INS	-	AGTA	AGTA	rs3216883		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10545432_10545433insAGTA	uc002gmq.1	-							NM_002470	NP_002461			myosin, heavy chain 3, skeletal muscle,						muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7																		---	---	---	---
TRIM16	10626	broad.mit.edu	37	17	15515832	15515832	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15515832delA	uc002gor.1	-						CDRT1_uc002gov.3_Intron					SubName: Full=Putative uncharacterized protein; Flags: Fragment;						histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid	cytoplasm|plasma membrane|PML body	DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding			ovary(2)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)														---	---	---	---
TTC19	54902	broad.mit.edu	37	17	15907084	15907085	+	Intron	INS	-	AT	AT	rs144819773	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15907084_15907085insAT	uc002gph.1	+						TTC19_uc010cox.1_Intron	NM_017775	NP_060245			tetratricopeptide repeat domain 19						cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)														---	---	---	---
PRPSAP2	5636	broad.mit.edu	37	17	18832049	18832049	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18832049delT	uc002gup.1	+						PRPSAP2_uc002guo.1_Intron|PRPSAP2_uc010vyi.1_Intron|PRPSAP2_uc010vyj.1_Intron|PRPSAP2_uc010vyk.1_Intron|PRPSAP2_uc002guq.1_Frame_Shift_Del_p.F31fs	NM_002767	NP_002758			phosphoribosyl pyrophosphate						nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			skin(1)	1																		---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19719998	19719998	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19719998delA	uc002gwm.3	-						ULK2_uc002gwn.2_Intron	NM_001142610	NP_001136082			unc-51-like kinase 2						signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)																	---	---	---	---
SARM1	23098	broad.mit.edu	37	17	26726914	26726914	+	3'UTR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26726914delT	uc010crl.1	+	12					SARM1_uc002hbe.1_3'UTR|SLC46A1_uc002hbf.1_Intron|SLC46A1_uc002hbg.1_Intron	NM_015077	NP_055892			sterile alpha and TIR motif containing 1						innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity				0	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)														---	---	---	---
PIGS	94005	broad.mit.edu	37	17	26890323	26890324	+	Intron	DEL	AT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26890323_26890324delAT	uc002hbo.2	-						PIGS_uc002hbn.2_Intron|PIGS_uc010wap.1_Intron	NM_033198	NP_149975			phosphatidylinositol glycan anchor biosynthesis,						attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(2)|urinary_tract(1)|kidney(1)	4	Lung NSC(42;0.00431)																	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27004564	27004564	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27004564delA	uc002hby.2	+						SUPT6H_uc010crt.2_Intron	NM_003170	NP_003161			suppressor of Ty 6 homolog						chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			ovary(2)|skin(1)	3	Lung NSC(42;0.00431)																	---	---	---	---
EFCAB5	374786	broad.mit.edu	37	17	28270563	28270563	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28270563delT	uc002het.2	+						EFCAB5_uc010wbi.1_Intron|EFCAB5_uc010wbj.1_Intron|EFCAB5_uc010wbk.1_Intron|EFCAB5_uc010csd.2_Intron	NM_198529	NP_940931			EF-hand calcium binding domain 5 isoform a								calcium ion binding			ovary(1)|skin(1)	2																		---	---	---	---
CPD	1362	broad.mit.edu	37	17	28783223	28783223	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28783223delA	uc002hfb.1	+						CPD_uc010wbo.1_Intron|CPD_uc010wbp.1_Intron	NM_001304	NP_001295			carboxypeptidase D precursor						proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			liver(1)|skin(1)	2																		---	---	---	---
SUZ12	23512	broad.mit.edu	37	17	30302737	30302737	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30302737delT	uc002hgs.2	+						SUZ12_uc002hgt.2_Intron	NM_015355	NP_056170			joined to JAZF1						negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		JAZF1/SUZ12(131)	soft_tissue(98)|endometrium(33)	131		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)						T	JAZF1	endometrial stromal tumours								---	---	---	---
RHOT1	55288	broad.mit.edu	37	17	30503047	30503047	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30503047delT	uc002hgz.2	+						RHOT1_uc002hgw.2_Intron|RHOT1_uc002hgy.2_Intron|RHOT1_uc002hha.2_Intron|RHOT1_uc010csv.2_Intron|RHOT1_uc002hgx.2_Intron|RHOT1_uc010wby.1_Intron|RHOT1_uc002hhb.2_Intron|RHOT1_uc002hgv.2_Intron	NM_018307	NP_060777			ras homolog gene family, member T1 isoform 3						apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			ovary(3)|central_nervous_system(1)	4		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)																---	---	---	---
PSMD11	5717	broad.mit.edu	37	17	30773801	30773801	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30773801delT	uc010cta.1	+						PSMD11_uc010wbz.1_Intron|PSMD11_uc002hhm.2_Intron	NM_002815	NP_002806			proteasome 26S non-ATPase subunit 11						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 complex	protein binding			ovary(1)	1		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)															---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32965276	32965276	+	3'UTR	DEL	C	-	-	rs71921875		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:32965276delC	uc002hif.2	+	10						NM_207313	NP_997196			transmembrane protein 132E precursor							integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)												OREG0024325	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34077135	34077135	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34077135delG	uc002hjv.1	-	2	616	c.588delC	c.(586-588)CCCfs	p.P196fs		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	196					cell cycle arrest	cytoplasm|cytoskeleton				ovary(1)|skin(1)	2		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
AATF	26574	broad.mit.edu	37	17	35346372	35346372	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35346372delT	uc002hni.2	+						AATF_uc002hnj.2_Intron	NM_012138	NP_036270			apoptosis antagonizing transcription factor						anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)																---	---	---	---
AATF	26574	broad.mit.edu	37	17	35358754	35358755	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35358754_35358755delAA	uc002hni.2	+						AATF_uc002hnj.2_Intron	NM_012138	NP_036270			apoptosis antagonizing transcription factor						anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)																---	---	---	---
ACACA	31	broad.mit.edu	37	17	35633807	35633807	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35633807delA	uc002hnm.2	-						ACACA_uc002hnk.2_Intron|ACACA_uc002hnl.2_Intron|ACACA_uc002hnn.2_Intron|ACACA_uc002hno.2_Intron|ACACA_uc010cuz.2_Intron|ACACA_uc002hnq.2_Intron	NM_198836	NP_942133			acetyl-Coenzyme A carboxylase alpha isoform 2						acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)													---	---	---	---
TADA2A	6871	broad.mit.edu	37	17	35827711	35827711	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35827711delT	uc002hnt.2	+						TADA2A_uc002hnv.2_Intron|TADA2A_uc002hnw.2_Intron|TADA2A_uc010cvb.2_Intron	NM_001488	NP_001479			transcriptional adaptor 2A isoform a						histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(3)|skin(1)	4																		---	---	---	---
IKZF3	22806	broad.mit.edu	37	17	37988230	37988230	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37988230delA	uc002hsu.2	-						IKZF3_uc002htd.2_Intron|IKZF3_uc010cwd.2_Intron|IKZF3_uc002hsv.2_Intron|IKZF3_uc010cwe.2_Intron|IKZF3_uc010cwf.2_Intron|IKZF3_uc010cwg.2_Intron|IKZF3_uc002hsw.2_Intron|IKZF3_uc002hsx.2_Intron|IKZF3_uc002hsy.2_Intron|IKZF3_uc002hsz.2_Intron|IKZF3_uc002hta.2_Intron|IKZF3_uc002htb.2_Intron|IKZF3_uc010cwh.2_Intron|IKZF3_uc002htc.2_Intron	NM_012481	NP_036613			aiolos isoform 1						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)															---	---	---	---
KRT40	125115	broad.mit.edu	37	17	39137190	39137191	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39137190_39137191insA	uc010cxh.1	-						KRT40_uc002hvq.1_Intron	NM_182497	NP_872303			type I hair keratin KA36							intermediate filament	structural molecule activity				0		Breast(137;0.00043)																---	---	---	---
KRTAP3-3	85293	broad.mit.edu	37	17	39149903	39149904	+	3'UTR	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39149903_39149904insT	uc002hvr.1	-	1						NM_033185	NP_149441			keratin associated protein 3-3							keratin filament	structural molecule activity				0		Breast(137;0.00043)																---	---	---	---
KRT34	3885	broad.mit.edu	37	17	39537783	39537783	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39537783delA	uc002hwm.2	-							NM_021013	NP_066293			keratin 34						epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)	1		Breast(137;0.000496)																---	---	---	---
ACLY	47	broad.mit.edu	37	17	40040423	40040423	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40040423delT	uc002hyg.2	-						ACLY_uc002hyh.2_Intron|ACLY_uc002hyi.2_Intron|ACLY_uc010wfx.1_Intron|ACLY_uc010wfy.1_Intron	NM_001096	NP_001087			ATP citrate lyase isoform 1						ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			ovary(2)|central_nervous_system(1)	3		Breast(137;0.000143)																---	---	---	---
DHX58	79132	broad.mit.edu	37	17	40259824	40259825	+	Intron	INS	-	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40259824_40259825insG	uc002hyw.3	-						DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Intron	NM_024119	NP_077024			RNA helicase LGP2						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)														---	---	---	---
MPP2	4355	broad.mit.edu	37	17	41960825	41960825	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41960825delC	uc010wip.1	-						MPP2_uc002ien.1_Intron|MPP2_uc010wim.1_Intron|MPP2_uc002ieo.1_Intron|MPP2_uc010win.1_Intron|MPP2_uc010wio.1_Intron|MPP2_uc010czm.1_Intron	NM_005374	NP_005365			palmitoylated membrane protein 2						signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity				0		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)														---	---	---	---
ITGA2B	3674	broad.mit.edu	37	17	42456785	42456786	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42456785_42456786insT	uc002igt.1	-						ITGA2B_uc002igu.1_Intron	NM_000419	NP_000410			integrin alpha 2b preproprotein						axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)													---	---	---	---
EFTUD2	9343	broad.mit.edu	37	17	42929595	42929595	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42929595delT	uc002ihn.2	-						EFTUD2_uc010wje.1_Intron|EFTUD2_uc010wjf.1_Intron	NM_004247	NP_004238			elongation factor Tu GTP binding domain							Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			ovary(1)	1		Prostate(33;0.109)																---	---	---	---
LRRC37A2	474170	broad.mit.edu	37	17	44627768	44627768	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44627768delT	uc002ikn.1	+						ARL17A_uc002iko.3_Intron|LRRC37A2_uc002ikq.1_Intron|LRRC37A2_uc010dax.1_Intron	NM_001006607	NP_001006608			c114 SLIT-like testicular protein precursor							integral to membrane					0		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)														---	---	---	---
NPEPPS	9520	broad.mit.edu	37	17	45691166	45691166	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45691166delA	uc002ilr.3	+						NPEPPS_uc010wkt.1_Intron|NPEPPS_uc010wku.1_Intron|NPEPPS_uc010wkv.1_Intron|NPEPPS_uc002ils.1_Intron	NM_006310	NP_006301			aminopeptidase puromycin sensitive						proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0																		---	---	---	---
HOXB6	3216	broad.mit.edu	37	17	46675020	46675020	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46675020delG	uc002ins.1	-						HOXB6_uc010dbh.1_Intron|HOXB6_uc002int.1_3'UTR	NM_018952	NP_061825			homeobox B6						anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
STXBP4	252983	broad.mit.edu	37	17	53076653	53076653	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:53076653delT	uc002iuf.1	+						STXBP4_uc010dcc.1_Intron|STXBP4_uc010dcd.1_Intron	NM_178509	NP_848604			syntaxin binding protein 4							cytoplasm	calcium ion binding			ovary(1)	1																		---	---	---	---
SCPEP1	59342	broad.mit.edu	37	17	55064878	55064878	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:55064878delT	uc002iuv.3	+						SCPEP1_uc010dcl.2_Intron|SCPEP1_uc010wnk.1_Intron	NM_021626	NP_067639			serine carboxypeptidase 1 precursor						proteolysis	extracellular region	serine-type carboxypeptidase activity			skin(1)	1	Breast(9;2.86e-08)																	---	---	---	---
TRIM37	4591	broad.mit.edu	37	17	57148100	57148100	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57148100delA	uc002iwy.3	-						TRIM37_uc002iwz.3_Intron|TRIM37_uc002ixa.3_Intron|TRIM37_uc010woc.1_Intron	NM_001005207	NP_001005207			tripartite motif-containing 37 protein							perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1)	7	Medulloblastoma(34;0.0922)|all_neural(34;0.101)													Mulibrey_Nanism				---	---	---	---
DHX40	79665	broad.mit.edu	37	17	57676860	57676860	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57676860delT	uc002ixn.1	+						DHX40_uc010woe.1_Intron|DHX40_uc010wof.1_Intron	NM_024612	NP_078888			DEAH (Asp-Glu-Ala-His) box polypeptide 40								ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)																	---	---	---	---
CA4	762	broad.mit.edu	37	17	58227531	58227531	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58227531delC	uc002iym.3	+						CA4_uc010wou.1_Intron	NM_000717	NP_000708			carbonic anhydrase IV precursor						bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)													---	---	---	---
CCDC47	57003	broad.mit.edu	37	17	61841925	61841925	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61841925delT	uc002jbs.3	-						CCDC47_uc010ddx.2_Intron|CCDC47_uc002jbt.2_Intron	NM_020198	NP_064583			coiled-coil domain containing 47 precursor							integral to membrane	protein binding				0																		---	---	---	---
POLG2	11232	broad.mit.edu	37	17	62476606	62476606	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62476606delA	uc002jei.2	-							NM_007215	NP_009146			DNA polymerase subunit gamma-2, mitochondrial						DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)	1	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)															---	---	---	---
CCDC45	90799	broad.mit.edu	37	17	62529013	62529014	+	Frame_Shift_Del	DEL	TA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62529013_62529014delTA	uc002jem.2	+	15	1787_1788	c.1729_1730delTA	c.(1729-1731)TATfs	p.Y577fs	CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Frame_Shift_Del_p.Y413fs|CCDC45_uc002jeo.1_Frame_Shift_Del_p.Y9fs	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	coiled-coil domain containing 45	577						centrosome|spindle pole	protein binding				0	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)															---	---	---	---
Unknown	0	broad.mit.edu	37	17	63470040	63470041	+	IGR	INS	-	CTTC	CTTC	rs148476146	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:63470040_63470041insCTTC								RGS9 (246221 upstream) : AXIN2 (54644 downstream)																																			---	---	---	---
PRKCA	5578	broad.mit.edu	37	17	64685257	64685257	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:64685257delA	uc002jfp.1	+						PRKCA_uc002jfo.1_Intron	NM_002737	NP_002728			protein kinase C, alpha						activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)													---	---	---	---
HELZ	9931	broad.mit.edu	37	17	65156546	65156546	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65156546delA	uc010wqk.1	-						HELZ_uc002jfv.3_Intron|HELZ_uc002jfx.3_Intron	NM_014877	NP_055692			helicase with zinc finger domain											ovary(1)|pancreas(1)	2	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)																	---	---	---	---
ABCA8	10351	broad.mit.edu	37	17	66925612	66925612	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66925612delA	uc002jhp.2	-						ABCA8_uc002jhq.2_Intron|ABCA8_uc010wqq.1_Intron|ABCA8_uc010wqr.1_Intron|ABCA8_uc002jhr.2_Intron	NM_007168	NP_009099			ATP-binding cassette, sub-family A member 8							integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)																	---	---	---	---
ABCA10	10349	broad.mit.edu	37	17	67197935	67197935	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67197935delT	uc010dfa.1	-						ABCA10_uc010wqt.1_Intron|ABCA10_uc010dfb.1_Intron|ABCA10_uc010dfc.1_Intron	NM_080282	NP_525021			ATP-binding cassette, sub-family A, member 10						transport	integral to membrane	ATP binding|ATPase activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Breast(10;6.95e-12)																	---	---	---	---
MIF4GD	57409	broad.mit.edu	37	17	73263638	73263641	+	Frame_Shift_Del	DEL	CTGT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73263638_73263641delCTGT	uc002jnr.2	-	5	548_551	c.419_422delACAG	c.(418-423)GACAGTfs	p.D140fs	MIF4GD_uc002jno.2_Frame_Shift_Del_p.D181fs|MIF4GD_uc002jnp.2_Frame_Shift_Del_p.D174fs|MIF4GD_uc002jnq.2_Frame_Shift_Del_p.D181fs			A9UHW6	MI4GD_HUMAN	RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1;          Short=hSLIP1;	140_141	MIF4G.				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding			ovary(1)	1	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)															---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73490638	73490639	+	Intron	INS	-	TG	TG			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73490638_73490639insTG	uc002jnz.3	+						KIAA0195_uc010wsa.1_Intron|KIAA0195_uc010wsb.1_Intron|KIAA0195_uc002job.3_5'Flank	NM_014738	NP_055553			hypothetical protein LOC9772						ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			ovary(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---
EXOC7	23265	broad.mit.edu	37	17	74094225	74094226	+	Intron	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74094225_74094226delTT	uc002jqs.2	-						EXOC7_uc010dgv.1_Intron|EXOC7_uc002jqq.2_Intron|EXOC7_uc010wsw.1_Intron|EXOC7_uc010wsx.1_Intron|EXOC7_uc002jqr.2_Intron|EXOC7_uc010wsv.1_Intron|EXOC7_uc002jqu.2_Intron	NM_001145297	NP_001138769			exocyst complex component 7 isoform 4						exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding				0			LUSC - Lung squamous cell carcinoma(166;0.187)															---	---	---	---
Unknown	0	broad.mit.edu	37	17	76488938	76488938	+	IGR	DEL	T	-	-	rs35406046		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76488938delT								DNAH17 (20082 upstream) : CYTH1 (181193 downstream)																																			---	---	---	---
TBC1D16	125058	broad.mit.edu	37	17	77958504	77958506	+	Intron	DEL	AAA	-	-	rs10528420		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77958504_77958506delAAA	uc002jxj.2	-							NM_019020	NP_061893			TBC1 domain family, member 16							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)															---	---	---	---
CARD14	79092	broad.mit.edu	37	17	78172264	78172264	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78172264delG	uc002jxw.1	+	13	1920	c.1725delG	c.(1723-1725)CAGfs	p.Q575fs	CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Frame_Shift_Del_p.Q575fs|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Frame_Shift_Del_p.Q338fs	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	caspase recruitment domain protein 14 isoform 1	575	PDZ.				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			ovary(4)|skin(1)	5	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78320756	78320756	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78320756delC	uc002jyh.1	+	4	3063	c.2840delC	c.(2839-2841)GCCfs	p.A947fs		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:Variant_position_missing_in_Q9HCF4_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
THOC4	10189	broad.mit.edu	37	17	79845851	79845852	+	3'UTR	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79845851_79845852delAA	uc002kbu.2	-	6						NM_005782	NP_005773			THO complex 4						intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding				0	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)															---	---	---	---
CCDC57	284001	broad.mit.edu	37	17	80141893	80141900	+	Intron	DEL	GCGCGCGC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80141893_80141900delGCGCGCGC	uc002kdz.1	-						CCDC57_uc002kdx.1_Intron|CCDC57_uc010dik.1_Intron	NM_198082	NP_932348			coiled-coil domain containing 57											ovary(2)	2	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)															---	---	---	---
THOC1	9984	broad.mit.edu	37	18	265533	265533	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:265533delA	uc002kkj.3	-						THOC1_uc002kkk.3_Intron|THOC1_uc002kkl.2_Intron	NM_005131	NP_005122			THO complex 1						apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			ovary(1)	1		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)																---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3131338	3131338	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3131338delT	uc002klp.2	-						MYOM1_uc002klq.2_Intron	NM_003803	NP_003794			myomesin 1 isoform a							striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
MYOM1	8736	broad.mit.edu	37	18	3134550	3134550	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3134550delT	uc002klp.2	-						MYOM1_uc002klq.2_Intron	NM_003803	NP_003794			myomesin 1 isoform a							striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
MYL12B	103910	broad.mit.edu	37	18	3277486	3277487	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3277486_3277487insT	uc010dkl.2	+						MYL12B_uc002klt.3_Intron|MYL12B_uc010wyv.1_Intron	NM_001144944	NP_001138416			myosin regulatory light chain MRCL2 isoform A						axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding				0																		---	---	---	---
L3MBTL4	91133	broad.mit.edu	37	18	6241558	6241559	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6241558_6241559insA	uc002kmz.3	-						L3MBTL4_uc010dkt.2_Intron|L3MBTL4_uc002kmy.3_5'Flank	NM_173464	NP_775735			l(3)mbt-like 4						chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|pancreas(1)	3		Colorectal(10;0.0249)																---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	7026190	7026190	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:7026190delA	uc002knm.2	-						LAMA1_uc010wzj.1_Intron	NM_005559	NP_005550			laminin, alpha 1 precursor						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)													---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	8384458	8384458	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8384458delA	uc002knn.3	+						PTPRM_uc010dkv.2_Intron|PTPRM_uc010wzl.1_Intron	NM_002845	NP_002836			protein tyrosine phosphatase, receptor type, M						homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)																---	---	---	---
NAPG	8774	broad.mit.edu	37	18	10526228	10526228	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:10526228delG	uc002kon.2	+						NAPG_uc010wzr.1_Intron|NAPG_uc002koo.2_Intron	NM_003826	NP_003817			N-ethylmaleimide-sensitive factor attachment						cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding				0																		---	---	---	---
NAPG	8774	broad.mit.edu	37	18	10548537	10548538	+	Intron	DEL	TT	-	-	rs1662154		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:10548537_10548538delTT	uc002kon.2	+						NAPG_uc010wzr.1_Intron|NAPG_uc002koo.2_Intron|NAPG_uc002kop.2_Intron	NM_003826	NP_003817			N-ethylmaleimide-sensitive factor attachment						cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	18	12303771	12303771	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:12303771delA								CIDEA (26179 upstream) : TUBB6 (4469 downstream)																																			---	---	---	---
CEP192	55125	broad.mit.edu	37	18	13095347	13095347	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13095347delA	uc010xac.1	+						CEP192_uc010dlf.1_Intron|CEP192_uc010xad.1_Intron|CEP192_uc002kru.2_Intron|CEP192_uc002krv.2_Intron|CEP192_uc002krw.2_Intron|CEP192_uc002krx.2_Intron|CEP192_uc002kry.2_Intron	NM_032142	NP_115518			centrosomal protein 192kDa											ovary(4)|pancreas(1)	5																		---	---	---	---
MIB1	57534	broad.mit.edu	37	18	19418493	19418493	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:19418493delT	uc002ktq.2	+						MIB1_uc002ktp.2_Intron	NM_020774	NP_065825			mindbomb homolog 1						Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			ovary(4)	4			STAD - Stomach adenocarcinoma(5;0.212)															---	---	---	---
TTC39C	125488	broad.mit.edu	37	18	21662977	21662977	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21662977delA	uc002kuw.2	+	6	1368	c.916delA	c.(916-918)AAAfs	p.K306fs	TTC39C_uc002kuu.2_Frame_Shift_Del_p.K245fs	NM_001135993	NP_001129465	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C isoform 1	306							binding			ovary(1)	1																		---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25565247	25565247	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:25565247delA	uc002kwg.2	-						CDH2_uc010xbn.1_Intron	NM_001792	NP_001783			cadherin 2, type 1 preproprotein						adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			ovary(3)|lung(1)	4																		---	---	---	---
DSC2	1824	broad.mit.edu	37	18	28654582	28654583	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28654582_28654583delAA	uc002kwl.3	-						DSC2_uc002kwk.3_Intron	NM_024422	NP_077740			desmocollin 2 isoform Dsc2a preproprotein						homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(10;0.0241)															---	---	---	---
DSG1	1828	broad.mit.edu	37	18	28925865	28925866	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28925865_28925866insA	uc002kwp.2	+						DSG1_uc010xbp.1_Intron	NM_001942	NP_001933			desmoglein 1 preproprotein						calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)															---	---	---	---
KIAA1012	22878	broad.mit.edu	37	18	29450471	29450471	+	Intron	DEL	A	-	-	rs35527481		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29450471delA	uc002kxc.3	-						KIAA1012_uc002kxb.3_Intron|KIAA1012_uc002kxd.3_Intron	NM_014939	NP_055754			hypothetical protein LOC22878						ER to Golgi vesicle-mediated transport	cis-Golgi network					0																		---	---	---	---
DTNA	1837	broad.mit.edu	37	18	32400995	32400995	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:32400995delA	uc010dmn.1	+						DTNA_uc002kxu.2_Intron|DTNA_uc010xbx.1_Intron|DTNA_uc002kxv.3_Intron|DTNA_uc002kxw.2_Intron|DTNA_uc002kxx.2_Intron|DTNA_uc010dmj.2_Intron|DTNA_uc002kxz.2_Intron|DTNA_uc002kxy.2_Intron|DTNA_uc010dmk.1_Intron|DTNA_uc010dml.2_Intron|DTNA_uc002kyb.3_Intron|DTNA_uc010dmm.2_Intron|DTNA_uc010xby.1_Intron|DTNA_uc010dmo.2_Intron|DTNA_uc002kyd.3_Intron|DTNA_uc010xbz.1_Intron|DTNA_uc010xca.1_Intron|DTNA_uc002kye.2_Intron	NM_001390	NP_001381			dystrobrevin alpha isoform 1						neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding				0																		---	---	---	---
ELP2	55250	broad.mit.edu	37	18	33738964	33738964	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:33738964delT	uc002kzk.1	+						ELP2_uc010xcg.1_Intron|ELP2_uc002kzl.1_Intron|ELP2_uc002kzm.1_Intron|ELP2_uc010xch.1_Intron|ELP2_uc002kzn.1_Intron|ELP2_uc002kzo.1_Intron	NM_018255	NP_060725			elongator protein 2						regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				breast(2)|ovary(1)|skin(1)	4																		---	---	---	---
FHOD3	80206	broad.mit.edu	37	18	34205516	34205516	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34205516delC	uc002kzt.1	+	10	1097	c.1000delC	c.(1000-1002)CCCfs	p.P334fs	FHOD3_uc002kzr.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzs.1_Frame_Shift_Del_p.P334fs|FHOD3_uc002kzu.1_Frame_Shift_Del_p.P159fs|FHOD3_uc010dmz.1_Frame_Shift_Del_p.P87fs	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	334	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			skin(3)|large_intestine(2)|breast(2)|ovary(1)	8		all_epithelial(2;0.0181)|Colorectal(2;0.0195)																---	---	---	---
Unknown	0	broad.mit.edu	37	18	39997240	39997240	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:39997240delC	uc002las.1	+						uc002lat.2_Intron|uc002lau.2_Intron					Homo sapiens hypothetical gene supported by BC011527; BC021928; BC011527; BC021928, mRNA (cDNA clone IMAGE:3872963), with apparent retained intron.																														---	---	---	---
DYM	54808	broad.mit.edu	37	18	46808324	46808324	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:46808324delA	uc002ldi.1	-						DYM_uc010xdf.1_Intron|DYM_uc002ldj.3_Intron	NM_017653	NP_060123			dymeclin							Golgi apparatus					0																		---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48603166	48603166	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:48603166delT	uc010xdp.1	+						SMAD4_uc002lfb.3_Intron	NM_005359	NP_005350			mothers against decapentaplegic homolog 4						BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(35)|p.?(2)		pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)										Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia				---	---	---	---
TCF4	6925	broad.mit.edu	37	18	52921647	52921647	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:52921647delA	uc002lfz.2	-						TCF4_uc002lfw.3_Intron|TCF4_uc010xdu.1_Intron|TCF4_uc010xdv.1_Intron|TCF4_uc002lfx.2_Intron|TCF4_uc010xdw.1_Intron|TCF4_uc002lfy.2_Intron|TCF4_uc010xdx.1_Intron|TCF4_uc010dph.1_Intron|TCF4_uc010xdy.1_Intron|TCF4_uc002lga.2_Intron|TCF4_uc002lgb.1_Intron|TCF4_uc010dpi.2_Intron|TCF4_uc002lfv.2_Intron	NM_003199	NP_003190			transcription factor 4 isoform b						positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			ovary(1)|lung(1)	2				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)														---	---	---	---
VPS4B	9525	broad.mit.edu	37	18	61067333	61067334	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61067333_61067334insT	uc002lix.2	-	7	997_998	c.737_738insA	c.(736-738)AATfs	p.N246fs	VPS4B_uc010dpx.2_Frame_Shift_Ins_p.N246fs|VPS4B_uc010dpy.2_Frame_Shift_Ins_p.N128fs|VPS4B_uc010dpz.1_Frame_Shift_Ins_p.N128fs	NM_004869	NP_004860	O75351	VPS4B_HUMAN	vacuolar protein sorting factor 4B	246					cell cycle|cell division|cellular membrane organization|endosome to lysosome transport via multivesicular body sorting pathway|intracellular cholesterol transport|protein transport|response to lipid	cytosol|early endosome|late endosome membrane|lysosome|nucleus|vacuolar membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding			ovary(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	18	63657606	63657617	+	IGR	DEL	GGAAGGAAGGAT	-	-	rs75491067	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:63657606_63657617delGGAAGGAAGGAT								CDH7 (109432 upstream) : CDH19 (513704 downstream)																																			---	---	---	---
TMX3	54495	broad.mit.edu	37	18	66378521	66378522	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:66378521_66378522insT	uc002lkf.2	-						TMX3_uc010xez.1_Intron|TMX3_uc010xfa.1_Intron|TMX3_uc002lkg.3_Intron	NM_019022	NP_061895			thioredoxin domain containing 10 precursor						cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			skin(1)	1																		---	---	---	---
CCDC102B	79839	broad.mit.edu	37	18	66503866	66503867	+	Intron	DEL	AT	-	-	rs71369199	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:66503866_66503867delAT	uc002lkk.2	+						CCDC102B_uc002lki.2_Intron|CCDC102B_uc002lkj.1_Intron	NM_001093729	NP_001087198			coiled-coil domain containing 102B											ovary(1)|lung(1)|skin(1)	3		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)																---	---	---	---
Unknown	0	broad.mit.edu	37	18	76372960	76372961	+	IGR	INS	-	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:76372960_76372961insC								None (None upstream) : SALL3 (367314 downstream)																																			---	---	---	---
TIMM13	26517	broad.mit.edu	37	19	2426187	2426187	+	3'UTR	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2426187delG	uc002lvx.1	-	3						NM_012458	NP_036590			translocase of inner mitochondrial membrane 13						protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	protein binding|zinc ion binding				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)														---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5222730	5222731	+	Frame_Shift_Ins	INS	-	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5222730_5222731insG	uc002mbv.2	-	18	3306_3307	c.3072_3073insC	c.(3070-3075)CCCGTCfs	p.P1024fs	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Frame_Shift_Ins_p.P1002fs|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	1024_1025	Fibronectin type-III 7.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)														---	---	---	---
TMEM146	257062	broad.mit.edu	37	19	5733772	5733772	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5733772delT	uc002mda.2	+						TMEM146_uc010duj.1_Intron	NM_152784	NP_689997			transmembrane protein 146 precursor							integral to membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
CAPS	828	broad.mit.edu	37	19	5915172	5915172	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5915172delG	uc002mdt.2	+						CAPS_uc002mdu.2_Intron	NM_004058	NP_004049			calcyphosine isoform a						intracellular signal transduction	cytoplasm	calcium ion binding				0																		---	---	---	---
RANBP3	8498	broad.mit.edu	37	19	5925784	5925784	+	Intron	DEL	G	-	-	rs147611655	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5925784delG	uc002mdw.2	-						RANBP3_uc002mdv.2_Intron|RANBP3_uc002mdx.2_Intron|RANBP3_uc002mdy.2_Intron|RANBP3_uc002mdz.2_Intron|RANBP3_uc010duq.2_Intron|RANBP3_uc002mea.2_Intron|RANBP3_uc010xix.1_Intron	NM_007322	NP_015561			RAN binding protein 3 isoform RANBP3-d						intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)	1																		---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10089452	10089452	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10089452delT	uc002mmq.1	-							NM_015719	NP_056534			collagen, type V, alpha 3 preproprotein						collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10			Epithelial(33;7.11e-05)															---	---	---	---
ICAM3	3385	broad.mit.edu	37	19	10446011	10446011	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10446011delG	uc002mob.2	-	4	723	c.668delC	c.(667-669)CCGfs	p.P223fs	RAVER1_uc002moa.2_5'Flank|ICAM3_uc010dxd.1_Frame_Shift_Del_p.P146fs|ICAM3_uc010xlf.1_3'UTR	NM_002162	NP_002153	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3 precursor	223	Extracellular (Potential).				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)															---	---	---	---
TYK2	7297	broad.mit.edu	37	19	10464745	10464747	+	In_Frame_Del	DEL	TGA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10464745_10464747delTGA	uc002moc.3	-	20	3257_3259	c.2879_2881delTCA	c.(2878-2883)ATCAAG>AAG	p.I960del	TYK2_uc010dxe.2_In_Frame_Del_p.I775del	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	960	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)															---	---	---	---
PDE4A	5141	broad.mit.edu	37	19	10565356	10565356	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10565356delC	uc002moj.2	+						PDE4A_uc002mok.2_Intron|PDE4A_uc002mol.2_Intron|PDE4A_uc002mom.2_Intron|PDE4A_uc002mon.2_Intron	NM_001111307	NP_001104777			phosphodiesterase 4A isoform 1						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)													---	---	---	---
ILF3	3609	broad.mit.edu	37	19	10790928	10790928	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10790928delG	uc002mpn.2	+						ILF3_uc002mpm.2_Intron|ILF3_uc002mpl.2_Intron|ILF3_uc002mpk.2_Intron|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Intron|ILF3_uc002mpp.2_Intron	NM_012218	NP_036350			interleukin enhancer binding factor 3 isoform a						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)															---	---	---	---
ZNF69	7620	broad.mit.edu	37	19	12014224	12014224	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12014224delA	uc002mst.3	+							NM_021915	NP_068734			zinc finger protein 69							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				Lung(535;0.011)														---	---	---	---
ZNF791	163049	broad.mit.edu	37	19	12739124	12739125	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12739124_12739125delAC	uc002mua.2	+	4	943_944	c.781_782delAC	c.(781-783)ACAfs	p.T261fs	ZNF791_uc010xml.1_Frame_Shift_Del_p.T229fs|ZNF791_uc010dyu.1_Frame_Shift_Del_p.T152fs|ZNF791_uc010xmm.1_Frame_Shift_Del_p.T152fs	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	zinc finger protein 791	261	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---
MRI1	84245	broad.mit.edu	37	19	13882968	13882968	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13882968delC	uc002mxe.2	+	6	1049	c.983delC	c.(982-984)ACCfs	p.T328fs	MRI1_uc002mxf.2_Frame_Shift_Del_p.T281fs|C19orf53_uc002mxg.2_5'Flank	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	translation initiation factor eIF-2B subunit	328					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			ovary(1)	1																		---	---	---	---
PODNL1	79883	broad.mit.edu	37	19	14046562	14046562	+	Frame_Shift_Del	DEL	G	-	-	rs151337979		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14046562delG	uc002mxr.2	-	5	761	c.487delC	c.(487-489)CTCfs	p.L163fs	PODNL1_uc010xni.1_Frame_Shift_Del_p.L81fs|PODNL1_uc010xnj.1_Frame_Shift_Del_p.L161fs|PODNL1_uc002mxs.2_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	podocan-like 1 isoform 1	163	Leu-rich.|LRR 4.					proteinaceous extracellular matrix				central_nervous_system(1)	1			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)															---	---	---	---
OR7C2	26658	broad.mit.edu	37	19	15052604	15052604	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15052604delT	uc010xoc.1	+	1	304	c.304delT	c.(304-306)TTTfs	p.F102fs		NM_012377	NP_036509	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C,	102	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Ovarian(108;0.203)																	---	---	---	---
CIB3	117286	broad.mit.edu	37	19	16283763	16283763	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16283763delA	uc002nds.2	-						CIB3_uc010eae.2_Intron|CIB3_uc010eaf.2_Intron|CIB3_uc010eag.2_Intron	NM_054113	NP_473454			DNA-dependent protein kinase catalytic								calcium ion binding			ovary(1)	1																		---	---	---	---
CALR3	125972	broad.mit.edu	37	19	16594979	16594979	+	Intron	DEL	C	-	-	rs7252242	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16594979delC	uc002ned.2	-						MED26_uc002nee.2_Intron	NM_145046	NP_659483			calreticulin 3 precursor						protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding				0																		---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16872616	16872616	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16872616delA	uc002neu.3	+						NWD1_uc002net.3_Intron|NWD1_uc002nev.3_Intron					RecName: Full=NACHT and WD repeat domain-containing protein 1;								ATP binding			skin(3)|ovary(2)|pancreas(2)	7																		---	---	---	---
OCEL1	79629	broad.mit.edu	37	19	17337840	17337840	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17337840delC	uc002nfp.2	+	3	286	c.284delC	c.(283-285)GCCfs	p.A95fs		NM_024578	NP_078854	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	95	Pro-rich.									central_nervous_system(1)	1																		---	---	---	---
PGLS	25796	broad.mit.edu	37	19	17628819	17628821	+	Intron	DEL	AAA	-	-	rs67260410		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17628819_17628821delAAA	uc002ngw.2	+							NM_012088	NP_036220			6-phosphogluconolactonase							cytosol	6-phosphogluconolactonase activity				0																		---	---	---	---
ARRDC2	27106	broad.mit.edu	37	19	18111475	18111476	+	5'Flank	INS	-	GGAA	GGAA	rs141584055	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18111475_18111476insGGAA	uc002nhu.2	+							NM_001025604	NP_001020775			arrestin domain containing 2 isoform 2											pancreas(1)	1																		---	---	---	---
HOMER3	9454	broad.mit.edu	37	19	19048969	19048970	+	Intron	INS	-	A	A	rs139729656	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19048969_19048970insA	uc002nku.2	-						HOMER3_uc010eby.2_Intron|HOMER3_uc010ebz.2_Intron|HOMER3_uc002nkw.2_Intron|HOMER3_uc002nkv.2_Intron	NM_004838	NP_004829			Homer, neuronal immediate early gene, 3 isoform						metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding				0			Epithelial(12;0.0107)															---	---	---	---
NCAN	1463	broad.mit.edu	37	19	19329920	19329921	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19329920_19329921insT	uc002nlz.2	+	3	369_370	c.270_271insT	c.(268-273)GACTTGfs	p.D90fs		NM_004386	NP_004377	O14594	NCAN_HUMAN	chondroitin sulfate proteoglycan 3 precursor	90_91	Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			ovary(4)	4			Epithelial(12;0.00544)															---	---	---	---
Unknown	0	broad.mit.edu	37	19	20442507	20442507	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:20442507delT								LOC284441 (72004 upstream) : ZNF826 (8571 downstream)																																			---	---	---	---
Unknown	0	broad.mit.edu	37	19	21821952	21821952	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21821952delT								ZNF429 (82884 upstream) : ZNF100 (84892 downstream)																																			---	---	---	---
ZNF208	7757	broad.mit.edu	37	19	22193773	22193774	+	5'Flank	INS	-	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22193773_22193774insC	uc002nqp.2	-						ZNF208_uc002nqo.1_5'Flank|ZNF208_uc002nqq.2_5'Flank	NM_007153	NP_009084			zinc finger protein 208											ovary(5)|skin(2)	7		all_lung(12;0.0961)|Lung NSC(12;0.103)																---	---	---	---
ZNF254	9534	broad.mit.edu	37	19	24289567	24289567	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:24289567delT	uc002nru.2	+						ZNF254_uc010xrk.1_Intron|ZNF254_uc002nrt.1_Intron	NM_203282	NP_975011			zinc finger protein 254						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)																---	---	---	---
SLC7A9	11136	broad.mit.edu	37	19	33353575	33353575	+	Intron	DEL	T	-	-	rs113741559		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33353575delT	uc002ntv.3	-						SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Intron|SLC7A9_uc002ntw.3_Intron	NM_001126335	NP_001119807			solute carrier family 7, member 9						blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)													---	---	---	---
LSM14A	26065	broad.mit.edu	37	19	34705959	34705959	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34705959delT	uc002nvb.3	+						LSM14A_uc002nva.3_Intron|LSM14A_uc010xru.1_Intron|LSM14A_uc002nvc.3_Intron	NM_001114093	NP_001107565			LSM14 homolog A isoform a						cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				skin(1)	1	Esophageal squamous(110;0.162)																	---	---	---	---
NFKBID	84807	broad.mit.edu	37	19	36381224	36381225	+	Intron	INS	-	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36381224_36381225insC	uc002oci.1	-						NFKBID_uc002och.1_Intron|NFKBID_uc002ocj.1_Intron	NM_139239	NP_640332			nuclear factor of kappa light polypeptide gene						inflammatory response	nucleus					0																		---	---	---	---
ZNF567	163081	broad.mit.edu	37	19	37210375	37210375	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37210375delA	uc010xtl.1	+	6	971	c.749delA	c.(748-750)GAAfs	p.E250fs	ZNF567_uc002oeo.1_Frame_Shift_Del_p.E250fs|ZNF567_uc010xtk.1_Frame_Shift_Del_p.E250fs|ZNF567_uc002oep.3_Frame_Shift_Del_p.E219fs|ZNF567_uc002oeq.1_Frame_Shift_Del_p.E219fs	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)															---	---	---	---
CEACAM21	90273	broad.mit.edu	37	19	42083433	42083434	+	Intron	DEL	AC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42083433_42083434delAC	uc002ore.3	+						CEACAM21_uc002orc.1_Intron|CEACAM21_uc002ord.1_Intron|CEACAM21_uc002orf.2_Intron|CEACAM21_uc002org.3_Intron	NM_001098506	NP_001091976			carcinoembryonic antigen-related cell adhesion							integral to membrane				ovary(1)	1																		---	---	---	---
CIC	23152	broad.mit.edu	37	19	42792901	42792902	+	Intron	INS	-	T	T	rs111511162		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42792901_42792902insT	uc002otf.1	+							NM_015125	NP_055940			capicua homolog						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)						T	DUX4	soft tissue sarcoma								---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42824786	42824787	+	Intron	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42824786_42824787delTT	uc002otk.1	+							NM_173633	NP_775904			transmembrane protein 145							integral to membrane					0		Prostate(69;0.00682)																---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42849134	42849134	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42849134delT	uc002otl.3	+						MEGF8_uc002otm.3_Intron	NM_001410	NP_001401			multiple EGF-like-domains 8							integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)																---	---	---	---
PSG3	5671	broad.mit.edu	37	19	43228338	43228338	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43228338delT	uc002oue.2	-						PSG3_uc002ouf.2_Intron|PSG3_uc010eil.2_Intron	NM_021016	NP_066296			pregnancy specific beta-1-glycoprotein 3						defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)																---	---	---	---
IRGQ	126298	broad.mit.edu	37	19	44098825	44098825	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44098825delA	uc002oww.2	-						IRGQ_uc010eiv.2_Intron|ZNF576_uc002owy.2_5'Flank|ZNF576_uc002owz.2_5'Flank|SRRM5_uc002oxb.2_5'Flank	NM_001007561	NP_001007562			immunity-related GTPase family, Q								protein binding			ovary(1)|pancreas(1)	2		Prostate(69;0.0199)																---	---	---	---
KCNN4	3783	broad.mit.edu	37	19	44280870	44280870	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44280870delT	uc002oxl.2	-						KCNN4_uc010eiz.2_5'Flank|KCNN4_uc010eja.1_Intron	NM_002250	NP_002241			intermediate conductance calcium-activated						defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			ovary(2)	2		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)													---	---	---	---
APOC1P1	342	broad.mit.edu	37	19	45431268	45431268	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45431268delA	uc010eju.2	+											Homo sapiens clone DKFZp781C1677 mRNA sequence.												0																		---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45783619	45783619	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45783619delC	uc002pbb.1	+						MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Intron|MARK4_uc002pbc.1_Intron					RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;						microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)														---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46334851	46334851	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46334851delG	uc002pdn.2	-						SYMPK_uc002pdo.1_Intron|SYMPK_uc002pdp.1_Intron|SYMPK_uc002pdq.1_Intron	NM_004819	NP_004810			symplekin						cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			ovary(1)	1		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)														---	---	---	---
Unknown	0	broad.mit.edu	37	19	46846765	46846777	+	IGR	DEL	TTTCCTTCCTTCC	-	-	rs71814107		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46846765_46846777delTTTCCTTCCTTCC								HIF3A (76 upstream) : PPP5C (3517 downstream)																																			---	---	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48204535	48204535	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48204535delG	uc002phh.3	+						GLTSCR1_uc002phi.3_Intron	NM_015711	NP_056526			glioma tumor suppressor candidate region gene 1								protein binding			pancreas(3)	3		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)														---	---	---	---
ZNF114	163071	broad.mit.edu	37	19	48790269	48790269	+	3'UTR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:48790269delA	uc002pil.1	+	6					ZNF114_uc010elv.1_3'UTR|ZNF114_uc002pim.1_3'UTR|ZNF114_uc002pin.2_3'UTR	NM_153608	NP_705836			zinc finger protein 114						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)														---	---	---	---
PLEKHA4	57664	broad.mit.edu	37	19	49342420	49342420	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49342420delT	uc002pkx.2	-						HSD17B14_uc002pkv.1_5'Flank|HSD17B14_uc010emk.1_5'Flank|PLEKHA4_uc002pkw.1_Intron|PLEKHA4_uc010eml.2_Intron	NM_020904	NP_065955			pleckstrin homology domain containing family A							cytoplasm|membrane	1-phosphatidylinositol binding			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)														---	---	---	---
PPFIA3	8541	broad.mit.edu	37	19	49631327	49631329	+	In_Frame_Del	DEL	AGA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49631327_49631329delAGA	uc002pmr.2	+	2	529_531	c.197_199delAGA	c.(196-201)GAGAAG>GAG	p.K67del	PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_5'Flank|PPFIA3_uc010yaj.1_5'Flank|PPFIA3_uc002pms.2_5'Flank	NM_003660	NP_003651	O75145	LIPA3_HUMAN	PTPRF interacting protein alpha 3	67	Potential.					cell surface|cytoplasm	protein binding			lung(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)														---	---	---	---
TRPM4	54795	broad.mit.edu	37	19	49671051	49671052	+	Intron	DEL	CT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49671051_49671052delCT	uc002pmw.2	+						TRPM4_uc010emu.2_Intron|TRPM4_uc010yak.1_Intron|TRPM4_uc002pmx.2_Intron|TRPM4_uc010emv.2_Intron|TRPM4_uc010yal.1_Intron	NM_017636	NP_060106			transient receptor potential cation channel,						dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			ovary(1)|central_nervous_system(1)	2		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)														---	---	---	---
CPT1C	126129	broad.mit.edu	37	19	50215900	50215900	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50215900delA	uc002ppj.2	+						CPT1C_uc002ppi.2_Intron|CPT1C_uc002ppk.2_Intron|CPT1C_uc010eng.2_Intron|CPT1C_uc010enh.2_Intron|CPT1C_uc010eni.1_Intron	NM_152359	NP_689572			carnitine palmitoyltransferase 1C isoform 2						fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)														---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50919818	50919818	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50919818delG	uc002psb.3	+						POLD1_uc002psc.3_Intron|POLD1_uc010enx.2_Intron|POLD1_uc010eny.2_Intron|SPIB_uc002psd.2_5'Flank|SPIB_uc002pse.2_5'Flank|SPIB_uc010ycc.1_5'Flank	NM_002691	NP_002682			DNA-directed DNA polymerase delta 1						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)	2		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)									DNA_polymerases_(catalytic_subunits)					---	---	---	---
KLK7	5650	broad.mit.edu	37	19	51483425	51483425	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51483425delG	uc002puo.2	-						KLK7_uc002pup.2_Intron|KLK7_uc010yco.1_Intron|KLK7_uc010eok.2_Intron	NM_139277	NP_644806			stratum corneum chymotryptic enzyme						epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity				0		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)														---	---	---	---
PTPRH	5794	broad.mit.edu	37	19	55698755	55698755	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55698755delA	uc002qjq.2	-						PTPRH_uc010esv.2_Intron|uc002qjr.2_5'Flank	NM_002842	NP_002833			protein tyrosine phosphatase, receptor type, H						apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(2)|large_intestine(1)|skin(1)	4		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)														---	---	---	---
ZNF784	147808	broad.mit.edu	37	19	56135945	56135945	+	5'Flank	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56135945delC	uc002qll.1	-						ZNF784_uc010etb.1_5'Flank	NM_203374	NP_976308			zinc finger protein 784						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---
U2AF2	11338	broad.mit.edu	37	19	56171886	56171887	+	Frame_Shift_Ins	INS	-	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56171886_56171887insC	uc002qlu.2	+	4	1290_1291	c.235_236insC	c.(235-237)TCCfs	p.S79fs	U2AF2_uc002qlt.2_Frame_Shift_Ins_p.S79fs	NM_007279	NP_009210	P26368	U2AF2_HUMAN	U2 (RNU2) small nuclear RNA auxiliary factor 2	79					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			ovary(1)	1		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)														---	---	---	---
Unknown	0	broad.mit.edu	37	20	2056532	2056532	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2056532delA								PDYN (81829 upstream) : STK35 (25996 downstream)																																			---	---	---	---
GPCPD1	56261	broad.mit.edu	37	20	5545802	5545802	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:5545802delA	uc002wme.3	-						GPCPD1_uc002wmd.3_Intron	NM_019593	NP_062539			hypothetical protein LOC56261						glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity				0																		---	---	---	---
PAK7	57144	broad.mit.edu	37	20	9538546	9538547	+	Intron	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:9538546_9538547insA	uc002wnl.2	-						PAK7_uc002wnk.2_Intron|PAK7_uc002wnj.2_Intron|PAK7_uc010gby.1_Intron	NM_020341	NP_065074			p21-activated kinase 7								ATP binding|protein binding|protein serine/threonine kinase activity			lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23			COAD - Colon adenocarcinoma(9;0.194)															---	---	---	---
C20orf94	128710	broad.mit.edu	37	20	10439002	10439002	+	Intron	DEL	T	-	-	rs6039947	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10439002delT	uc010zre.1	+							NM_001009608	NP_001009608			hypothetical protein LOC128710								protein binding				0																		---	---	---	---
CST1	1469	broad.mit.edu	37	20	23729754	23729754	+	Frame_Shift_Del	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23729754delC	uc002wtp.2	-	2	312	c.241delG	c.(241-243)GTGfs	p.V81fs		NM_001898	NP_001889	P01037	CYTN_HUMAN	cystatin SN precursor	81						extracellular region	cysteine-type endopeptidase inhibitor activity			ovary(1)	1	Lung NSC(19;0.0676)|all_lung(19;0.148)																	---	---	---	---
MIR644	693229	broad.mit.edu	37	20	33054130	33054130	+	RNA	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33054130delT	hsa-mir-644|MI0003659	+			c.1delT			ITCH_uc002xak.2_Intron|ITCH_uc010geu.1_Intron|ITCH_uc010zuj.1_Intron																	0																		---	---	---	---
MYH7B	57644	broad.mit.edu	37	20	33570437	33570438	+	Intron	DEL	TC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33570437_33570438delTC	uc002xbi.1	+							NM_020884	NP_065935			myosin, heavy polypeptide 7B, cardiac muscle,							membrane|myosin filament	actin binding|ATP binding|motor activity			ovary(1)|breast(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00691)															---	---	---	---
C20orf4	25980	broad.mit.edu	37	20	34843225	34843225	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34843225delT	uc002xfc.1	+						C20orf4_uc002xfd.1_Intron|C20orf4_uc002xfe.1_Intron	NM_015511	NP_056326			hypothetical protein LOC25980												0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)																---	---	---	---
DSN1	79980	broad.mit.edu	37	20	35390884	35390884	+	Frame_Shift_Del	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35390884delT	uc010gfr.2	-	6	943	c.570delA	c.(568-570)AAAfs	p.K190fs	DSN1_uc002xfz.2_Frame_Shift_Del_p.K190fs|DSN1_uc002xfy.3_Translation_Start_Site|DSN1_uc002xga.2_Frame_Shift_Del_p.K190fs|DSN1_uc010zvs.1_Frame_Shift_Del_p.K83fs|DSN1_uc002xgc.2_Frame_Shift_Del_p.K174fs|DSN1_uc002xgb.2_Frame_Shift_Del_p.K174fs	NM_001145316	NP_001138788	Q9H410	DSN1_HUMAN	DSN1, MIND kinetochore complex component,	190					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			ovary(2)	2		Myeloproliferative disorder(115;0.00874)																---	---	---	---
SAMHD1	25939	broad.mit.edu	37	20	35526446	35526446	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35526446delT	uc002xgh.1	-						SAMHD1_uc010gft.1_Intron	NM_015474	NP_056289			SAM domain- and HD domain-containing protein 1						defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity				0		Myeloproliferative disorder(115;0.00878)																---	---	---	---
NNAT	4826	broad.mit.edu	37	20	36151130	36151131	+	Frame_Shift_Ins	INS	-	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36151130_36151131insG	uc002xhd.2	+	3	342_343	c.215_216insG	c.(214-216)TTGfs	p.L72fs	BLCAP_uc002xha.2_5'Flank|BLCAP_uc002xhb.2_Intron|BLCAP_uc002xhc.2_Intron|NNAT_uc002xhe.2_Frame_Shift_Ins_p.L45fs	NM_005386	NP_005377	Q16517	NNAT_HUMAN	neuronatin isoform alpha	72					brain development|protein lipoylation|transport						0		Myeloproliferative disorder(115;0.00878)																---	---	---	---
L3MBTL	26013	broad.mit.edu	37	20	42163618	42163618	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42163618delC	uc010zwh.1	+						L3MBTL_uc002xkl.2_Intron|L3MBTL_uc002xkm.2_Intron|L3MBTL_uc010ggl.2_Intron|L3MBTL_uc002xkn.1_Intron|L3MBTL_uc002xko.2_Intron	NM_015478	NP_056293			l(3)mbt-like isoform I						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)															---	---	---	---
STK4	6789	broad.mit.edu	37	20	43600644	43600644	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43600644delA	uc002xnb.2	+						STK4_uc010ggx.2_Intron|STK4_uc010ggy.2_Intron|STK4_uc010ggw.1_Intron	NM_006282	NP_006273			serine/threonine kinase 4						apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(115;0.0122)																---	---	---	---
EYA2	2139	broad.mit.edu	37	20	45789429	45789429	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45789429delT	uc002xsm.2	+						EYA2_uc010ghp.2_Intron|EYA2_uc002xsn.2_Intron|EYA2_uc002xso.2_Intron|EYA2_uc002xsp.2_Intron|EYA2_uc002xsq.2_Intron	NM_005244	NP_005235			eyes absent 2 isoform a						DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			ovary(1)	1		Myeloproliferative disorder(115;0.0241)																---	---	---	---
ZMYND8	23613	broad.mit.edu	37	20	45864942	45864943	+	Intron	INS	-	A	A	rs3746487		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45864942_45864943insA	uc002xta.1	-						ZMYND8_uc010ghq.1_Intron|ZMYND8_uc010ghr.1_Intron|ZMYND8_uc002xst.1_Intron|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Intron|ZMYND8_uc002xsw.1_Intron|ZMYND8_uc002xsx.1_Intron|ZMYND8_uc002xsy.1_Intron|ZMYND8_uc002xsz.1_Intron|ZMYND8_uc010zxy.1_Intron|ZMYND8_uc002xtb.1_Intron|ZMYND8_uc002xss.2_Intron|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Intron|ZMYND8_uc002xtd.1_Intron|ZMYND8_uc002xte.1_Intron|ZMYND8_uc010zya.1_Intron|ZMYND8_uc002xtf.1_Intron|ZMYND8_uc002xsr.1_Intron	NM_012408	NP_036540			zinc finger, MYND-type containing 8 isoform b								protein binding|zinc ion binding			central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)															---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47296441	47296441	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47296441delT	uc002xtw.1	-							NM_020820	NP_065871			phosphatidylinositol-3,4,						actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			lung(3)|ovary(2)|pancreas(1)	6			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)															---	---	---	---
DDX27	55661	broad.mit.edu	37	20	47860465	47860465	+	3'UTR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47860465delA	uc002xuh.2	+	21						NM_017895	NP_060365			DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							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)															---	---	---	---
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48699267	48699268	+	3'UTR	INS	-	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:48699267_48699268insG	uc002xvf.2	-	8					UBE2V1_uc002xvb.2_RNA|UBE2V1_uc002xva.2_3'UTR|UBE2V1_uc002xvc.2_3'UTR|UBE2V1_uc002xvd.2_3'UTR|UBE2V1_uc002xve.2_3'UTR	NM_199203	NP_954673			TMEM189-UBE2V1 readthrough transcript						cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein K63-linked ubiquitination|regulation of DNA repair|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus|UBC13-UEV1A complex|ubiquitin ligase complex	acid-amino acid ligase activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)															---	---	---	---
ADNP	23394	broad.mit.edu	37	20	49509399	49509400	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:49509399_49509400insT	uc002xvt.1	-	5	2196_2197	c.1851_1852insA	c.(1849-1854)AAAGATfs	p.K617fs	ADNP_uc002xvu.1_Frame_Shift_Ins_p.K617fs	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	617_618						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2																		---	---	---	---
PCK1	5105	broad.mit.edu	37	20	56140816	56140817	+	Frame_Shift_Del	DEL	GA	-	-	rs17847705		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:56140816_56140817delGA	uc002xyn.3	+	10	1988_1989	c.1825_1826delGA	c.(1825-1827)GAGfs	p.E609fs	PCK1_uc010zzm.1_Frame_Shift_Del_p.E292fs	NM_002591	NP_002582	P35558	PCKGC_HUMAN	cytosolic phosphoenolpyruvate carboxykinase 1	609					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			skin(1)	1	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)															---	---	---	---
RAB22A	57403	broad.mit.edu	37	20	56885935	56885939	+	Intron	DEL	TACTC	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:56885935_56885939delTACTC	uc002xyz.2	+							NM_020673	NP_065724			RAS-related protein RAB-22A						endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction	early endosome|endosome membrane|plasma membrane	GTP binding|GTPase activity|protein binding				0	all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07)															---	---	---	---
C20orf177	63939	broad.mit.edu	37	20	58519406	58519406	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58519406delA	uc002yba.2	+	5	823	c.408delA	c.(406-408)ACAfs	p.T136fs	C20orf177_uc010zzx.1_Intron|C20orf177_uc002ybc.2_Frame_Shift_Del_p.T136fs	NM_022106	NP_071389	Q9NTX9	CT177_HUMAN	hypothetical protein LOC63939	136										ovary(2)|breast(1)	3	all_lung(29;0.00693)		BRCA - Breast invasive adenocarcinoma(7;1.22e-08)															---	---	---	---
TAF4	6874	broad.mit.edu	37	20	60582474	60582474	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60582474delC	uc002ybs.2	-							NM_003185	NP_003176			TBP-associated factor 4						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|pancreas(1)	3	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)															---	---	---	---
LSM14B	149986	broad.mit.edu	37	20	60705077	60705077	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60705077delT	uc010gjy.1	+						LSM14B_uc010gjx.1_Intron|LSM14B_uc002ybv.2_Intron|LSM14B_uc010gjz.1_Intron|LSM14B_uc010zzz.1_Intron	NM_144703	NP_653304			LSM14 homolog B						multicellular organismal development|regulation of translation	ribonucleoprotein complex					0	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)															---	---	---	---
YTHDF1	54915	broad.mit.edu	37	20	61834924	61834924	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61834924delA	uc002yeh.2	-	4	662	c.368delT	c.(367-369)TTCfs	p.F123fs	YTHDF1_uc011aaq.1_Frame_Shift_Del_p.F73fs	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	123				FP -> AR (in Ref. 4; BAB62751).						ovary(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	21	9753235	9753235	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:9753235delA	uc011abu.1	+											Homo sapiens, clone IMAGE:4720764, mRNA.																														---	---	---	---
Unknown	0	broad.mit.edu	37	21	20230803	20230803	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:20230803delA								TMPRSS15 (454833 upstream) : None (None downstream)																																			---	---	---	---
SFRS15	57466	broad.mit.edu	37	21	33057345	33057345	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:33057345delA	uc002ypd.2	-						SFRS15_uc002ype.2_Intron|SFRS15_uc010glu.2_Intron|SFRS15_uc002ypf.1_Frame_Shift_Del_p.F509fs	NM_020706	NP_065757			splicing factor, arginine/serine-rich 15 isoform							nucleus	nucleotide binding|RNA binding				0																		---	---	---	---
Unknown	0	broad.mit.edu	37	21	34213737	34213737	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34213737delT								C21orf62 (27684 upstream) : OLIG2 (184502 downstream)																																			---	---	---	---
IFNAR2	3455	broad.mit.edu	37	21	34615846	34615846	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34615846delT	uc002yrd.2	+						IFNAR2_uc002yrb.2_Intron|IFNAR2_uc002yrc.2_Intron|IFNAR2_uc002yre.2_Intron|IFNAR2_uc002yrf.2_Intron|IFNAR2_uc002yrg.2_5'Flank	NM_207585	NP_997468			interferon alpha/beta receptor 2 isoform a						JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity				0					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)													---	---	---	---
IFNAR1	3454	broad.mit.edu	37	21	34725056	34725056	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34725056delT	uc002yrn.2	+						IFNAR1_uc011adv.1_Intron	NM_000629	NP_000620			interferon-alpha receptor 1 precursor						JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			central_nervous_system(1)|skin(1)	2					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)													---	---	---	---
GART	2618	broad.mit.edu	37	21	34906683	34906683	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34906683delT	uc002yrx.2	-						GART_uc002yrz.2_Intron|GART_uc010gmd.2_Intron|GART_uc002yry.2_Intron|GART_uc002ysa.2_Intron	NM_000819	NP_000810			phosphoribosylglycinamide formyltransferase,						'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			ovary(1)	1					Pemetrexed(DB00642)													---	---	---	---
DONSON	29980	broad.mit.edu	37	21	34956724	34956724	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34956724delA	uc002ysk.2	-						DONSON_uc002ysi.1_Intron|DONSON_uc002ysj.2_Intron|DONSON_uc002ysl.2_Intron|DONSON_uc010gme.2_Intron|DONSON_uc002ysm.2_Intron	NM_017613	NP_060083			downstream neighbor of SON						multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
RUNX1	861	broad.mit.edu	37	21	37092854	37092854	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37092854delA	uc002yut.1	-						MIR802_hsa-mir-802|MI0003906_5'Flank					Synthetic construct DNA, clone: pF1KB4846, Homo sapiens RUNX1 gene for runt-related transcription factor 1, complete cds, without stop codon, in Flexi system.						myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387								T	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4	AML|preB- ALL|T-ALL				Platelet_disorder_associated_with_Myeloid_Malignancies				---	---	---	---
TTC3	7267	broad.mit.edu	37	21	38538053	38538054	+	Frame_Shift_Ins	INS	-	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38538053_38538054insA	uc002yvz.2	+	33	3642_3643	c.3537_3538insA	c.(3535-3540)AAGAAAfs	p.K1179fs	TTC3_uc011aee.1_Frame_Shift_Ins_p.K869fs|TTC3_uc002ywa.2_Frame_Shift_Ins_p.K1179fs|TTC3_uc002ywb.2_Frame_Shift_Ins_p.K1179fs|TTC3_uc010gnf.2_Frame_Shift_Ins_p.K944fs|TTC3_uc002ywc.2_Frame_Shift_Ins_p.K869fs|TTC3_uc002ywd.1_Frame_Shift_Ins_p.K243fs	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1179_1180	Arg/Lys-rich (basic).				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			skin(3)|ovary(2)|lung(2)|breast(2)	9		Myeloproliferative disorder(46;0.0412)																---	---	---	---
TMPRSS2	7113	broad.mit.edu	37	21	42851331	42851331	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:42851331delA	uc002yzj.2	-						TMPRSS2_uc010gor.2_Intron|TMPRSS2_uc010gos.1_Intron	NM_005656	NP_005647			transmembrane protease, serine 2 isoform 2						proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ERG(2499)|TMPRSS2/ETV1(24)	prostate(2523)|central_nervous_system(1)	2524		Prostate(19;4.48e-07)|all_epithelial(19;0.031)						T	ERG|ETV1|ETV4|ETV5	prostate 								---	---	---	---
TRPM2	7226	broad.mit.edu	37	21	45786736	45786736	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45786736delG	uc002zet.1	+	5	736	c.523delG	c.(523-525)GGGfs	p.G175fs	TRPM2_uc002zeu.1_Frame_Shift_Del_p.G175fs|TRPM2_uc002zew.1_Frame_Shift_Del_p.G175fs|TRPM2_uc010gpt.1_Frame_Shift_Del_p.G175fs|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	175	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																		---	---	---	---
ITGB2	3689	broad.mit.edu	37	21	46330678	46330678	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46330678delG	uc002zgd.2	-	1	64	c.20delC	c.(19-21)CCAfs	p.P7fs	ITGB2_uc002zge.2_Frame_Shift_Del_p.P7fs|ITGB2_uc002zgf.3_Frame_Shift_Del_p.P7fs|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Frame_Shift_Del_p.P7fs|ITGB2_uc002zgg.2_Frame_Shift_Del_p.P7fs	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	integrin, beta 2 precursor	7					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			ovary(4)|central_nervous_system(3)|breast(2)	9				Colorectal(79;0.0669)	Simvastatin(DB00641)													---	---	---	---
Unknown	0	broad.mit.edu	37	22	16419352	16419352	+	IGR	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:16419352delT								POTEH (131415 upstream) : OR11H1 (29474 downstream)																																			---	---	---	---
SEPT5	5413	broad.mit.edu	37	22	19709742	19709742	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19709742delC	uc002zpv.1	+						SEPT5_uc002zpw.1_Intron|SEPT5_uc002zpx.1_Intron|SEPT5_uc002zpy.1_5'UTR|SEPT5_uc002zpz.1_5'Flank	NM_002688	NP_002679			septin 5						cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)	1	Colorectal(54;0.0993)																	---	---	---	---
FLJ39582	439931	broad.mit.edu	37	22	21363319	21363319	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21363319delG	uc002ztu.1	+						MGC16703_uc002zty.3_RNA|MGC16703_uc002ztx.3_RNA|MGC16703_uc010gss.1_RNA|FLJ39582_uc002ztv.2_RNA					Homo sapiens cDNA FLJ39582 fis, clone SKMUS2004667.												0																		---	---	---	---
BCR	613	broad.mit.edu	37	22	23634615	23634615	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:23634615delT	uc002zww.2	+						BCR_uc002zwx.2_Intron|BCR_uc011aiy.1_Intron	NM_004327	NP_004318			breakpoint cluster region isoform 1						regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	haematopoietic_and_lymphoid_tissue(6)|central_nervous_system(3)|urinary_tract(1)|lung(1)|skin(1)	12								T	ABL1| FGFR1|JAK2 	CML|ALL|AML								---	---	---	---
CABIN1	23523	broad.mit.edu	37	22	24480374	24480374	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24480374delT	uc002zzi.1	+						CABIN1_uc002zzj.1_Intron|CABIN1_uc002zzl.1_Intron	NM_012295	NP_036427			calcineurin binding protein 1						cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
PIWIL3	440822	broad.mit.edu	37	22	25145193	25145193	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:25145193delC	uc003abd.1	-						PIWIL3_uc011ajx.1_Intron|PIWIL3_uc011ajy.1_Intron|PIWIL3_uc010gut.1_Intron	NM_001008496	NP_001008496			piwi-like 3						cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
MN1	4330	broad.mit.edu	37	22	28146770	28146770	+	3'UTR	DEL	A	-	-	rs28501997		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:28146770delA	uc003adj.2	-	2					MN1_uc010gvg.2_RNA	NM_002430	NP_002421			meningioma  1								binding			central_nervous_system(3)|lung(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	10								T	ETV6	AML|meningioma								---	---	---	---
PIK3IP1	113791	broad.mit.edu	37	22	31679062	31679062	+	3'UTR	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31679062delG	uc003akm.2	-	6					PIK3IP1_uc003akl.2_RNA|PIK3IP1_uc011alo.1_3'UTR|PIK3IP1_uc003akn.2_3'UTR	NM_052880	NP_443112			HGFL protein isoform 1							integral to membrane				ovary(1)	1																		---	---	---	---
CARD10	29775	broad.mit.edu	37	22	37902399	37902399	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37902399delG	uc003asx.1	-						CARD10_uc003ast.1_Intron|CARD10_uc003asw.1_Intron|CARD10_uc003asy.1_Intron	NM_014550	NP_055365			caspase recruitment domain protein 10						activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			upper_aerodigestive_tract(1)|lung(1)|breast(1)|ovary(1)|prostate(1)|kidney(1)	6	Melanoma(58;0.0574)																	---	---	---	---
DMC1	11144	broad.mit.edu	37	22	38917599	38917599	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38917599delA	uc003avz.1	-						DMC1_uc011anv.1_Intron	NM_007068	NP_008999			DMC1 dosage suppressor of mck1 homolog						reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			ovary(1)	1	Melanoma(58;0.0286)												Homologous_recombination					---	---	---	---
MGAT3	4248	broad.mit.edu	37	22	39883204	39883205	+	Intron	INS	-	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39883204_39883205insG	uc003axv.3	+						MGAT3_uc010gxy.2_5'Flank	NM_002409	NP_002400			mannosyl (beta-1,4-)-glycoprotein						post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity				0	Melanoma(58;0.04)																	---	---	---	---
TNRC6B	23112	broad.mit.edu	37	22	40708460	40708460	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:40708460delT	uc011aor.1	+						TNRC6B_uc003aym.2_Intron|TNRC6B_uc003ayn.3_Intron|TNRC6B_uc003ayo.2_Intron	NM_001162501	NP_001155973			trinucleotide repeat containing 6B isoform 1						gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding				0																		---	---	---	---
DNAJB7	150353	broad.mit.edu	37	22	41257751	41257753	+	In_Frame_Del	DEL	TCA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41257751_41257753delTCA	uc003azj.2	-	1	378_380	c.246_248delTGA	c.(244-249)GATGAA>GAA	p.D82del	XPNPEP3_uc011aox.1_Intron|XPNPEP3_uc003azh.2_Intron|XPNPEP3_uc003azi.2_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azg.1_RNA|XPNPEP3_uc003azf.1_RNA|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	82					protein folding		heat shock protein binding|unfolded protein binding			ovary(1)	1																		---	---	---	---
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42898666delC	uc011apm.1	+						SERHL_uc011apl.1_Intron					RecName: Full=Serine hydrolase-like protein;          EC=3.1.-.-;												0																		---	---	---	---
FBLN1	2192	broad.mit.edu	37	22	45939157	45939157	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45939157delA	uc003bgj.1	+						FBLN1_uc003bgg.1_Intron|FBLN1_uc003bgh.2_Intron|FBLN1_uc010gzz.2_Intron|FBLN1_uc003bgi.1_Intron	NM_006486	NP_006477			fibulin 1 isoform D						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)														---	---	---	---
BRD1	23774	broad.mit.edu	37	22	50180948	50180950	+	Intron	DEL	CCC	-	-	rs11357365		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50180948_50180950delCCC	uc003biv.2	-						BRD1_uc011arf.1_Intron|BRD1_uc011arg.1_Intron|BRD1_uc011arh.1_Intron|BRD1_uc003biu.3_Intron	NM_014577	NP_055392			bromodomain containing protein 1						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)														---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3229672	3229672	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:3229672delA	uc004crg.3	-							NM_015419	NP_056234			adlican precursor							extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)																---	---	---	---
Unknown	0	broad.mit.edu	37	X	18857197	18857198	+	IGR	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:18857197_18857198insT								PPEF1 (11165 upstream) : PHKA2 (53219 downstream)																																			---	---	---	---
MAP3K15	389840	broad.mit.edu	37	X	19389185	19389186	+	Intron	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:19389185_19389186delAA	uc004czk.1	-						MAP3K15_uc004czj.1_Intron|MAP3K15_uc004czi.1_Intron	NM_001001671	NP_001001671			mitogen-activated protein kinase kinase kinase								ATP binding|MAP kinase kinase kinase activity|metal ion binding			ovary(3)|lung(2)|stomach(1)|skin(1)	7	Hepatocellular(33;0.183)																	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21613201	21613201	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:21613201delT	uc004czx.1	+						CNKSR2_uc004czw.2_Intron|CNKSR2_uc011mjn.1_Intron|CNKSR2_uc011mjo.1_Intron|CNKSR2_uc004czy.2_Intron	NM_014927	NP_055742			connector enhancer of kinase suppressor of Ras						regulation of signal transduction	cytoplasm|membrane	protein binding			large_intestine(1)|lung(1)	2																		---	---	---	---
PRDX4	10549	broad.mit.edu	37	X	23701869	23701869	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:23701869delA	uc004dam.2	+							NM_006406	NP_006397			peroxiredoxin 4						cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			upper_aerodigestive_tract(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	26523591	26523591	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:26523591delA								MAGEB6 (309829 upstream) : VENTXP1 (52863 downstream)																																			---	---	---	---
DMD	1756	broad.mit.edu	37	X	31496529	31496529	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:31496529delT	uc004dda.1	-						DMD_uc004dcq.1_Intron|DMD_uc004dcr.1_Intron|DMD_uc004dcs.1_Intron|DMD_uc004dct.1_Intron|DMD_uc004dcu.1_Intron|DMD_uc004dcv.1_Intron|DMD_uc004dcw.2_Intron|DMD_uc004dcx.2_Intron|DMD_uc004dcz.2_Intron|DMD_uc004dcy.1_Intron|DMD_uc004ddb.1_Intron	NM_004006	NP_003997			dystrophin Dp427m isoform						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			ovary(3)|pancreas(2)|large_intestine(1)	6		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)																---	---	---	---
BCOR	54880	broad.mit.edu	37	X	39930432	39930432	+	Intron	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:39930432delG	uc004den.3	-						BCOR_uc004dep.3_Intron|BCOR_uc004deo.3_Intron|BCOR_uc004dem.3_Intron	NM_001123385	NP_001116857			BCL-6 interacting corepressor isoform c						heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4																		---	---	---	---
MED14	9282	broad.mit.edu	37	X	40540221	40540221	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:40540221delA	uc004dex.3	-							NM_004229	NP_004220			mediator complex subunit 14						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																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	43888684	43888684	+	IGR	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:43888684delA								NDP (55763 upstream) : EFHC2 (118445 downstream)																																			---	---	---	---
SLC9A7	84679	broad.mit.edu	37	X	46466404	46466404	+	Frame_Shift_Del	DEL	G	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:46466404delG	uc004dgu.1	-	17	2169	c.2161delC	c.(2161-2163)CTGfs	p.L721fs		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	solute carrier family 9, member 7	721					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			ovary(2)	2																		---	---	---	---
SYN1	6853	broad.mit.edu	37	X	47442707	47442707	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47442707delC	uc004die.2	-						SYN1_uc004did.2_Intron|TIMP1_uc011mlr.1_Intron|TIMP1_uc010nht.1_Intron|TIMP1_uc004dif.2_Intron	NM_006950	NP_008881			synapsin I isoform Ia							cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity			ovary(1)	1																		---	---	---	---
RBM3	5935	broad.mit.edu	37	X	48435397	48435398	+	Intron	DEL	TT	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48435397_48435398delTT	uc004dkf.1	+						RBM3_uc004dkd.1_Intron|RBM3_uc004dkg.2_Intron	NM_006743	NP_006734			RNA binding motif protein 3						positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding			ovary(1)	1																		---	---	---	---
NHSL2	340527	broad.mit.edu	37	X	71264810	71264812	+	Intron	DEL	AAA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71264810_71264812delAAA	uc011mqa.1	+							NM_001013627	NP_001013649			NHS-like 2												0	Renal(35;0.156)																	---	---	---	---
Unknown	0	broad.mit.edu	37	X	71492424	71492425	+	IGR	DEL	AA	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71492424_71492425delAA								PIN4 (7612 upstream) : RPS4X (29 downstream)																																			---	---	---	---
RLIM	51132	broad.mit.edu	37	X	73836528	73836528	+	5'Flank	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73836528delT	uc004ebu.2	-						RLIM_uc004ebw.2_5'Flank	NM_183353	NP_899196			ring finger protein, LIM domain interacting						random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	X	74805019	74805020	+	IGR	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:74805019_74805020insT								ZDHHC15 (61682 upstream) : MAGEE2 (197803 downstream)																																			---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79946538	79946538	+	Intron	DEL	A	-	-	rs73502699	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:79946538delA	uc004edt.2	-						BRWD3_uc010nmi.1_Intron|BRWD3_uc004edo.2_Intron|BRWD3_uc004edp.2_Intron|BRWD3_uc004edq.2_Intron|BRWD3_uc010nmj.1_Intron|BRWD3_uc004edr.2_Intron|BRWD3_uc004eds.2_Intron|BRWD3_uc004edu.2_Intron|BRWD3_uc004edv.2_Intron|BRWD3_uc004edw.2_Intron|BRWD3_uc004edx.2_Intron|BRWD3_uc004edy.2_Intron|BRWD3_uc004edz.2_Intron|BRWD3_uc004eea.2_Intron|BRWD3_uc004eeb.2_Intron	NM_153252	NP_694984			bromodomain and WD repeat domain containing 3											ovary(4)	4																		---	---	---	---
FAM133A	286499	broad.mit.edu	37	X	92964569	92964569	+	Frame_Shift_Del	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:92964569delA	uc004efr.1	+	4	464	c.151delA	c.(151-153)AAAfs	p.K51fs		NM_173698	NP_775969	Q8N9E0	F133A_HUMAN	hypothetical protein LOC286499	51	Lys-rich.										0																		---	---	---	---
NOX1	27035	broad.mit.edu	37	X	100111569	100111569	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100111569delT	uc004egj.2	-						uc010nnf.2_Intron|NOX1_uc004egl.3_Intron|NOX1_uc010nne.2_Intron	NM_007052	NP_008983			NADPH oxidase 1 isoform long						angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			ovary(1)	1																		---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106066802	106066802	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:106066802delT	uc004emo.2	+						MORC4_uc004emp.3_Intron|TBC1D8B_uc004emm.2_Intron|TBC1D8B_uc004emn.2_Intron	NM_017752	NP_060222			TBC1 domain family, member 8B (with GRAM domain)							intracellular	calcium ion binding|Rab GTPase activator activity			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
PSMD10	5716	broad.mit.edu	37	X	107328532	107328532	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107328532delA	uc004enp.1	-						PSMD10_uc004enq.1_Intron	NM_002814	NP_002805			proteasome 26S non-ATPase subunit 10 isoform 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cytoplasmic sequestering of NF-kappaB|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 apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of MAPKKK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of release of cytochrome c from mitochondria|negative regulation of transcription from RNA polymerase II promoter|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus|proteasome regulatory particle	transcription factor binding			ovary(1)	1																		---	---	---	---
PAK3	5063	broad.mit.edu	37	X	110439050	110439050	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110439050delT	uc004epa.2	+						PAK3_uc010npt.1_Intron|PAK3_uc010npu.1_Intron|PAK3_uc004eoy.1_Intron|PAK3_uc004eoz.2_Intron|PAK3_uc011mst.1_Intron|PAK3_uc010npv.1_Intron|PAK3_uc010npw.1_Intron	NM_001128173	NP_001121645			p21-activated kinase 3 isoform d						multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			lung(6)|ovary(3)|large_intestine(1)	10															TSP Lung(19;0.15)			---	---	---	---
DOCK11	139818	broad.mit.edu	37	X	117752828	117752829	+	Intron	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:117752828_117752829insT	uc004eqp.2	+						DOCK11_uc004eqq.2_Intron	NM_144658	NP_653259			dedicator of cytokinesis 11						blood coagulation	cytosol	GTP binding			ovary(3)	3																		---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119678281	119678281	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119678281delA	uc004esw.2	-						CUL4B_uc010nqq.2_Intron|CUL4B_uc004esv.2_Intron	NM_003588	NP_003579			cullin 4B isoform 1						cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
SMARCA1	6594	broad.mit.edu	37	X	128649642	128649642	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128649642delT	uc004eun.3	-						SMARCA1_uc004eup.3_Intron|SMARCA1_uc011muk.1_Intron|SMARCA1_uc011mul.1_Intron	NM_003069	NP_003060			SWI/SNF-related matrix-associated						ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			ovary(3)|skin(1)	4																		---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129190011	129190011	+	Frame_Shift_Del	DEL	C	-	-	rs137862942		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129190011delC	uc004evb.1	+	13	5150	c.5036delC	c.(5035-5037)TCCfs	p.S1679fs	BCORL1_uc004evc.1_Frame_Shift_Del_p.S515fs	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 co-repressor-like 1	1679					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				ovary(4)|breast(2)|lung(1)	7																		---	---	---	---
DDX26B	203522	broad.mit.edu	37	X	134681205	134681205	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134681205delT	uc004eyw.3	+							NM_182540	NP_872346			DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide												0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
SLC9A6	10479	broad.mit.edu	37	X	135080645	135080646	+	Frame_Shift_Ins	INS	-	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135080645_135080646insT	uc004ezj.2	+	4	588_589	c.512_513insT	c.(511-513)CATfs	p.H171fs	SLC9A6_uc004ezk.2_Frame_Shift_Ins_p.H203fs|SLC9A6_uc011mvx.1_Frame_Shift_Ins_p.H151fs	NM_006359	NP_006350	Q92581	SL9A6_HUMAN	solute carrier family 9 (sodium/hydrogen	171					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			ovary(1)	1	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
Unknown	0	broad.mit.edu	37	X	136067369	136067369	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:136067369delT	uc004fai.1	+											Homo sapiens cDNA FLJ31132 fis, clone IMR322000953.																														---	---	---	---
F9	2158	broad.mit.edu	37	X	138642845	138642845	+	Intron	DEL	T	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138642845delT	uc004fas.1	+						F9_uc004fat.1_Intron	NM_000133	NP_000124			coagulation factor IX preproprotein						blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			lung(2)|ovary(1)	3	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)													---	---	---	---
ATP11C	286410	broad.mit.edu	37	X	138828035	138828035	+	Intron	DEL	A	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138828035delA	uc004faz.2	-						ATP11C_uc004fax.2_Intron|ATP11C_uc004fay.2_Intron|ATP11C_uc004fba.2_Intron	NM_173694	NP_775965			ATPase, class VI, type 11C isoform a						ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(5)|large_intestine(3)	8	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
PNCK	139728	broad.mit.edu	37	X	152937973	152937973	+	Intron	DEL	C	-	-			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152937973delC	uc011myu.1	-						PNCK_uc011myt.1_Intron|PNCK_uc004fia.2_Intron|PNCK_uc004fhz.3_Intron|PNCK_uc010nuh.2_Intron|PNCK_uc011myv.1_Intron|PNCK_uc011myw.1_Intron	NM_001039582	NP_001034671			pregnancy upregulated non-ubiquitously expressed							cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(1)	1	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
Unknown	0	broad.mit.edu	37	Y	13500539	13500540	+	IGR	INS	-	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:13500539_13500540insG								None (None upstream) : None (None downstream)																																			---	---	---	---
PLEKHN1	84069	broad.mit.edu	37	1	905733	905733	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:905733G>T	uc001ace.2	+	3	295	c.260G>T	c.(259-261)AGG>ATG	p.R87M	PLEKHN1_uc001acd.2_Missense_Mutation_p.R87M|PLEKHN1_uc001acf.2_Missense_Mutation_p.R87M	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N	87											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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)														---	---	---	---
PLEKHN1	84069	broad.mit.edu	37	1	906784	906784	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:906784G>T	uc001ace.2	+	7	980	c.945G>T	c.(943-945)AAG>AAT	p.K315N	PLEKHN1_uc001acd.2_Missense_Mutation_p.K263N|PLEKHN1_uc001acf.2_Missense_Mutation_p.K275N	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N	315	PH 2.										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)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)														---	---	---	---
ATAD3B	83858	broad.mit.edu	37	1	1421171	1421171	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1421171C>T	uc001afv.2	+	9	1017	c.916C>T	c.(916-918)CGG>TGG	p.R306W	ATAD3B_uc001afx.2_Missense_Mutation_p.R260W	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3	306							ATP binding|nucleoside-triphosphatase 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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
ATAD3B	83858	broad.mit.edu	37	1	1424620	1424620	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1424620G>A	uc001afv.2	+	13	1404	c.1303G>A	c.(1303-1305)GCC>ACC	p.A435T	ATAD3B_uc001afx.2_Missense_Mutation_p.A389T|ATAD3B_uc001afy.2_5'Flank	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3	435							ATP binding|nucleoside-triphosphatase 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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)														---	---	---	---
MIB2	142678	broad.mit.edu	37	1	1563197	1563197	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1563197C>T	uc001agg.2	+	13	1969	c.1842C>T	c.(1840-1842)GAC>GAT	p.D614D	MIB2_uc001agh.2_Silent_p.D600D|MIB2_uc001agi.2_Silent_p.D610D|MIB2_uc001agj.2_Silent_p.D455D|MIB2_uc001agk.2_Silent_p.D549D|MIB2_uc001agl.1_Silent_p.D570D|MIB2_uc001agm.2_Silent_p.D491D|MIB2_uc010nyq.1_Silent_p.D570D|MIB2_uc009vkh.2_Silent_p.D420D|MIB2_uc001agn.2_Silent_p.D246D|MIB2_uc001ago.2_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	614	ANK 3.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				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)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)														---	---	---	---
Unknown	0	broad.mit.edu	37	1	1855365	1855365	+	Missense_Mutation	SNP	G	A	A	rs141875534	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1855365G>A	uc001aik.2	-	7	1086	c.236C>T	c.(235-237)ACG>ATG	p.T79M	uc001ail.2_Missense_Mutation_p.T79M					RecName: Full=Uncharacterized protein C1orf222;																														---	---	---	---
KIAA1751	85452	broad.mit.edu	37	1	1888196	1888196	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1888196A>C	uc001aim.1	-	17	2035	c.1879T>G	c.(1879-1881)TTC>GTC	p.F627V	KIAA1751_uc009vkz.1_Missense_Mutation_p.F627V	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	hypothetical protein LOC85452	627										pancreas(1)	1	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;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)														---	---	---	---
PANK4	55229	broad.mit.edu	37	1	2452733	2452733	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2452733G>A	uc001ajm.1	-	3	238	c.229C>T	c.(229-231)CCG>TCG	p.P77S	PANK4_uc010nza.1_Missense_Mutation_p.P77S	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	77					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			upper_aerodigestive_tract(1)|large_intestine(1)|ovary(1)	3	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)														---	---	---	---
PRDM16	63976	broad.mit.edu	37	1	3348572	3348572	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3348572G>A	uc001akf.2	+	16	3644	c.3564G>A	c.(3562-3564)CCG>CCA	p.P1188P	PRDM16_uc001akc.2_Silent_p.P1187P|PRDM16_uc001akd.2_Silent_p.P1187P|PRDM16_uc001ake.2_Silent_p.P1188P|PRDM16_uc009vlh.2_Silent_p.P888P	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	PR domain containing 16 isoform 1	1188	Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)				T	EVI1	MDS|AML								---	---	---	---
LRRC47	57470	broad.mit.edu	37	1	3703793	3703793	+	Missense_Mutation	SNP	G	A	A	rs151208305		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3703793G>A	uc001akx.1	-	2	725	c.697C>T	c.(697-699)CGT>TGT	p.R233C		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	233	LRR 7.				translation		phenylalanine-tRNA ligase activity|RNA binding			large_intestine(1)|ovary(1)	2	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)														---	---	---	---
KIAA0562	9731	broad.mit.edu	37	1	3751488	3751488	+	Splice_Site	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3751488C>T	uc001aky.2	-	11	1844	c.1485_splice	c.e11+1	p.S495_splice	KIAA0562_uc010nzm.1_Splice_Site|KIAA0562_uc001akz.2_Splice_Site_p.S495_splice	NM_014704	NP_055519			glycine-, glutamate-,							centriole	binding				0	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212)		Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137)														---	---	---	---
KCNAB2	8514	broad.mit.edu	37	1	6100692	6100692	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6100692G>A	uc009vlv.1	+	2	199	c.64G>A	c.(64-66)GGG>AGG	p.G22R	KCNAB2_uc001alv.1_Missense_Mutation_p.G22R|KCNAB2_uc001alw.1_Missense_Mutation_p.G22R|KCNAB2_uc001alx.1_Missense_Mutation_p.G22R|KCNAB2_uc001alu.2_Missense_Mutation_p.G22R	NM_003636	NP_003627	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related	22						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity				0	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
HES3	390992	broad.mit.edu	37	1	6304653	6304653	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6304653G>A	uc009vly.1	+	3	182	c.127G>A	c.(127-129)GTG>ATG	p.V43M		NM_001024598	NP_001019769	Q5TGS1	HES3_HUMAN	hairy and enhancer of split 3	43	Helix-loop-helix 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)														---	---	---	---
TAS1R1	80835	broad.mit.edu	37	1	6637065	6637065	+	Missense_Mutation	SNP	C	T	T	rs145341910		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6637065C>T	uc001ant.2	+	5	1529	c.1529C>T	c.(1528-1530)ACG>ATG	p.T510M	TAS1R1_uc001anu.2_Missense_Mutation_p.T256M|TAS1R1_uc001anv.2_Missense_Mutation_p.T256M|TAS1R1_uc001anw.2_Intron|ZBTB48_uc009vmc.1_5'Flank|ZBTB48_uc001anx.2_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	510	Extracellular (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7724983	7724983	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7724983G>A	uc001aoi.2	+	9	2583	c.2376G>A	c.(2374-2376)GGG>GGA	p.G792G		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	792					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)														---	---	---	---
CAMTA1	23261	broad.mit.edu	37	1	7811299	7811299	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7811299T>A	uc001aoi.2	+	20	4937	c.4730T>A	c.(4729-4731)ATC>AAC	p.I1577N	CAMTA1_uc001aok.3_Missense_Mutation_p.I620N|CAMTA1_uc001aoj.2_Missense_Mutation_p.I540N|CAMTA1_uc009vmf.2_Missense_Mutation_p.I167N	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1577	IQ 2.				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)														---	---	---	---
PER3	8863	broad.mit.edu	37	1	7844974	7844974	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7844974G>T	uc001aoo.2	+	1	212	c.37G>T	c.(37-39)GGG>TGG	p.G13W	PER3_uc009vmg.1_Missense_Mutation_p.G13W|PER3_uc009vmh.1_Missense_Mutation_p.G13W|PER3_uc001aop.2_Missense_Mutation_p.G13W|PER3_uc010nzw.1_5'UTR|PER3_uc001aon.2_Missense_Mutation_p.G13W	NM_016831	NP_058515	P56645	PER3_HUMAN	period 3	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			ovary(1)|pancreas(1)|skin(1)	3	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;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;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
UTS2	10911	broad.mit.edu	37	1	7907911	7907911	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:7907911A>C	uc001aor.2	-	4	331	c.290T>G	c.(289-291)ATT>AGT	p.I97S	UTS2_uc001aoq.2_Missense_Mutation_p.I97S|UTS2_uc001aos.2_Missense_Mutation_p.I112S	NM_006786	NP_006777	O95399	UTS2_HUMAN	urotensin 2 isoform b preproprotein	97					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)														---	---	---	---
SLC45A1	50651	broad.mit.edu	37	1	8390765	8390765	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8390765C>T	uc001apb.2	+	4	1212	c.1212C>T	c.(1210-1212)TTC>TTT	p.F404F	SLC45A1_uc001apc.2_Silent_p.F102F	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	404					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
RERE	473	broad.mit.edu	37	1	8418812	8418812	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8418812C>T	uc001ape.2	-	21	4593	c.3783G>A	c.(3781-3783)CGG>CGA	p.R1261R	RERE_uc001apf.2_Silent_p.R1261R|RERE_uc001apd.2_Silent_p.R707R	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1261					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)														---	---	---	---
RERE	473	broad.mit.edu	37	1	8418948	8418948	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8418948C>T	uc001ape.2	-	21	4457	c.3647G>A	c.(3646-3648)CGC>CAC	p.R1216H	RERE_uc001apf.2_Missense_Mutation_p.R1216H|RERE_uc001apd.2_Missense_Mutation_p.R662H	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	atrophin-1 like protein isoform a	1216					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1216C(1)		ovary(1)|central_nervous_system(1)	2	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)														---	---	---	---
ENO1	2023	broad.mit.edu	37	1	8927208	8927208	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8927208C>T	uc001apj.1	-	6	563	c.412G>A	c.(412-414)GCT>ACT	p.A138T	ENO1_uc001api.1_Missense_Mutation_p.A42T|ENO1_uc001apk.1_Missense_Mutation_p.A83T|ENO1_uc001apl.1_Missense_Mutation_p.A138T|ENO1_uc009vmi.1_Missense_Mutation_p.A95T|ENO1_uc009vmj.1_Missense_Mutation_p.A138T|ENO1_uc009vmk.1_Intron|ENO1_uc009vml.1_Missense_Mutation_p.A138T	NM_001428	NP_001419	P06733	ENOA_HUMAN	enolase 1	138	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|kidney(1)|central_nervous_system(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|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;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---
SLC2A5	6518	broad.mit.edu	37	1	9107748	9107748	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9107748C>T	uc001apo.2	-	4	631	c.339G>A	c.(337-339)GCG>GCA	p.A113A	SLC2A5_uc010nzy.1_Silent_p.A54A|SLC2A5_uc010nzz.1_5'UTR|SLC2A5_uc010oaa.1_Silent_p.A69A|SLC2A5_uc010oab.1_Silent_p.A113A|SLC2A5_uc010oac.1_Intron|SLC2A5_uc001app.3_Silent_p.A113A	NM_003039	NP_003030	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated	113	Helical; Name=3; (Potential).				carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			pancreas(2)|ovary(1)	3	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
H6PD	9563	broad.mit.edu	37	1	9305383	9305383	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:9305383C>T	uc001apt.2	+	2	663	c.390C>T	c.(388-390)CAC>CAT	p.H130H		NM_004285	NP_004276	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase precursor	130	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)													---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10357036	10357036	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10357036C>A	uc001aqx.3	+	21	2145	c.1943C>A	c.(1942-1944)CCT>CAT	p.P648H	KIF1B_uc001aqv.3_Missense_Mutation_p.P602H|KIF1B_uc001aqw.3_Missense_Mutation_p.P602H|KIF1B_uc001aqy.2_Missense_Mutation_p.P622H|KIF1B_uc001aqz.2_Missense_Mutation_p.P648H|KIF1B_uc001ara.2_Missense_Mutation_p.P608H|KIF1B_uc001arb.2_Missense_Mutation_p.P634H	NM_015074	NP_055889	O60333	KIF1B_HUMAN	kinesin family member 1B isoform b	648					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			ovary(2)|upper_aerodigestive_tract(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-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;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---
CASZ1	54897	broad.mit.edu	37	1	10720568	10720568	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10720568G>A	uc001aro.2	-	6	851	c.531C>T	c.(529-531)TAC>TAT	p.Y177Y	CASZ1_uc001arp.1_Silent_p.Y177Y|CASZ1_uc009vmx.2_Silent_p.Y201Y|CASZ1_uc001arq.1_Silent_p.Y36Y	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	castor homolog 1, zinc finger isoform a	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			skin(1)	1	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)														---	---	---	---
C1orf127	148345	broad.mit.edu	37	1	11008532	11008532	+	Missense_Mutation	SNP	C	T	T	rs147030030	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11008532C>T	uc010oao.1	-	8	1218	c.1213G>A	c.(1213-1215)GCC>ACC	p.A405T	C1orf127_uc001arr.1_Missense_Mutation_p.A387T|C1orf127_uc001ars.1_Missense_Mutation_p.A379T	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	405										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)														---	---	---	---
TARDBP	23435	broad.mit.edu	37	1	11073800	11073800	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11073800C>T	uc001art.2	+	2	150	c.16C>T	c.(16-18)CGG>TGG	p.R6W	TARDBP_uc010oap.1_5'UTR	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	6					3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)														---	---	---	---
TARDBP	23435	broad.mit.edu	37	1	11082186	11082186	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11082186G>A	uc001art.2	+	6	854	c.720G>A	c.(718-720)GCG>GCA	p.A240A	TARDBP_uc010oap.1_Silent_p.A124A	NM_007375	NP_031401	Q13148	TADBP_HUMAN	TAR DNA binding protein	240	RRM 2.			Missing: Alters but does not abolish RNA binding.	3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)	2	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)														---	---	---	---
MTOR	2475	broad.mit.edu	37	1	11259311	11259311	+	Intron	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11259311C>A	uc001asd.2	-							NM_004958	NP_004949			FK506 binding protein 12-rapamycin associated						cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2)	29																		---	---	---	---
MTHFR	4524	broad.mit.edu	37	1	11861314	11861314	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11861314G>A	uc001atc.1	-	3	563	c.379C>T	c.(379-381)CAC>TAC	p.H127Y	MTHFR_uc001atb.1_Missense_Mutation_p.H150Y	NM_005957	NP_005948	P42898	MTHR_HUMAN	5,10-methylenetetrahydrofolate reductase	127					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding				0	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)													---	---	---	---
MFN2	9927	broad.mit.edu	37	1	12061830	12061830	+	Silent	SNP	C	T	T	rs141475476	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12061830C>T	uc001atn.3	+	10	1428	c.975C>T	c.(973-975)GGC>GGT	p.G325G	MFN2_uc009vni.2_Silent_p.G325G	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	325	Cytoplasmic (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)												OREG0013107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
MFN2	9927	broad.mit.edu	37	1	12067172	12067172	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12067172C>T	uc001atn.3	+	17	2388	c.1935C>T	c.(1933-1935)TAC>TAT	p.Y645Y	MFN2_uc009vni.2_Silent_p.Y645Y	NM_014874	NP_055689	O95140	MFN2_HUMAN	mitofusin 2	645	Helical; Name=2; (Potential).				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)														---	---	---	---
VPS13D	55187	broad.mit.edu	37	1	12353588	12353588	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12353588C>T	uc001atv.2	+	24	6001	c.5860C>T	c.(5860-5862)CGG>TGG	p.R1954W	VPS13D_uc001atw.2_Missense_Mutation_p.R1954W|VPS13D_uc001atx.2_Missense_Mutation_p.R1142W	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	1954					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)														---	---	---	---
KAZ	23254	broad.mit.edu	37	1	15386753	15386753	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15386753G>A	uc001avm.3	+	6	1283	c.1002G>A	c.(1000-1002)CCG>CCA	p.P334P	KAZ_uc009vog.1_Silent_p.P334P|KAZ_uc010obj.1_Silent_p.P334P|KAZ_uc001avo.2_Silent_p.P328P|KAZ_uc001avp.2_Silent_p.P240P|KAZ_uc001avq.2_Silent_p.P240P|KAZ_uc001avr.2_Silent_p.P237P	NM_201628	NP_963922	Q674X7	KAZRN_HUMAN	kazrin isoform E	334					keratinization	cornified envelope|cytoplasm|desmosome|nucleus					0																		---	---	---	---
SLC25A34	284723	broad.mit.edu	37	1	16063318	16063318	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16063318C>T	uc001axb.1	+	1	510	c.338C>T	c.(337-339)GCG>GTG	p.A113V	SLC25A34_uc009vok.1_5'Flank	NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	solute carrier family 25, member 34	113	Solcar 2.|Helical; Name=3; (Potential).				transport	integral to membrane|mitochondrial inner membrane					0		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		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)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
TMEM82	388595	broad.mit.edu	37	1	16069534	16069534	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16069534G>A	uc001axc.2	+	3	319	c.181G>A	c.(181-183)GAA>AAA	p.E61K		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	transmembrane protein 82	61	Leu-rich.					integral to membrane				breast(1)|central_nervous_system(1)	2		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
EPHA2	1969	broad.mit.edu	37	1	16474864	16474864	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16474864G>A	uc001aya.1	-						EPHA2_uc010oca.1_Intron	NM_004431	NP_004422			ephrin receptor EphA2 precursor						activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10		Colorectal(325;3.46e-05)|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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)													---	---	---	---
ARHGEF19	128272	broad.mit.edu	37	1	16525156	16525156	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16525156C>T	uc001ayc.1	-	16	2472	c.2335G>A	c.(2335-2337)GCC>ACC	p.A779T	ARHGEF19_uc009voo.1_Missense_Mutation_p.A132T|ARHGEF19_uc001ayb.1_Missense_Mutation_p.A256T	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	779					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
CROCC	9696	broad.mit.edu	37	1	17265427	17265427	+	Silent	SNP	C	T	T	rs145341541	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17265427C>T	uc001azt.2	+	12	1467	c.1398C>T	c.(1396-1398)AGC>AGT	p.S466S	CROCC_uc009voy.1_Silent_p.S169S|CROCC_uc009voz.1_Silent_p.S229S|CROCC_uc001azu.2_5'Flank	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	466					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)														---	---	---	---
CROCC	9696	broad.mit.edu	37	1	17298923	17298923	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17298923C>T	uc001azt.2	+	37	6105	c.6036C>T	c.(6034-6036)TCC>TCT	p.S2012S	CROCC_uc001azu.2_Silent_p.S1308S|CROCC_uc001azv.2_Silent_p.S348S	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil	2012					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			ovary(2)|breast(2)|central_nervous_system(1)	5		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)														---	---	---	---
PADI2	11240	broad.mit.edu	37	1	17431553	17431553	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:17431553C>T	uc001baf.2	-	2	178	c.96G>A	c.(94-96)GCG>GCA	p.A32A	PADI2_uc010ocm.1_Silent_p.A32A|PADI2_uc001bag.1_Silent_p.A32A	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	32					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1)	6		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)													---	---	---	---
IGSF21	84966	broad.mit.edu	37	1	18691983	18691983	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:18691983C>T	uc001bau.1	+	6	1190	c.807C>T	c.(805-807)GTC>GTT	p.V269V	IGSF21_uc001bav.1_Silent_p.V90V	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21 precursor	269						extracellular region				ovary(2)|large_intestine(1)|skin(1)	4		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)														---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19478961	19478961	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19478961G>A	uc001bbi.2	-	47	6846	c.6842C>T	c.(6841-6843)ACG>ATG	p.T2281M	UBR4_uc001bbk.1_5'Flank|UBR4_uc001bbl.1_Missense_Mutation_p.T218M|UBR4_uc001bbm.1_Missense_Mutation_p.T1493M	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	2281					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19487642	19487642	+	Splice_Site	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19487642C>A	uc001bbi.2	-	38	5180	c.5176_splice	c.e38-1	p.A1726_splice	UBR4_uc001bbm.1_Splice_Site_p.A937_splice	NM_020765	NP_065816			retinoblastoma-associated factor 600						interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---
PQLC2	54896	broad.mit.edu	37	1	19653785	19653785	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19653785C>T	uc001bby.2	+	8	1035	c.683C>T	c.(682-684)ACG>ATG	p.T228M	PQLC2_uc001bbz.2_Missense_Mutation_p.T163M|PQLC2_uc001bca.2_Missense_Mutation_p.T228M|PQLC2_uc001bcb.2_Missense_Mutation_p.T117M|PQLC2_uc001bcc.2_Missense_Mutation_p.T117M	NM_017765	NP_060235	Q6ZP29	PQLC2_HUMAN	PQ loop repeat containing 2 isoform 1	228	PQ-loop 2.|Helical; (Potential).					integral to membrane					0		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;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
TMCO4	255104	broad.mit.edu	37	1	20082244	20082244	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20082244C>T	uc001bcn.2	-	7	640	c.398G>A	c.(397-399)CGG>CAG	p.R133Q	TMCO4_uc001bcm.2_Missense_Mutation_p.R133Q|TMCO4_uc001bco.1_Missense_Mutation_p.R133Q|TMCO4_uc001bcp.1_Missense_Mutation_p.R133Q|TMCO4_uc009vpn.1_Missense_Mutation_p.R133Q|TMCO4_uc001bcq.1_Missense_Mutation_p.R133Q	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	133						integral to membrane					0		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)														---	---	---	---
KIF17	57576	broad.mit.edu	37	1	20998611	20998611	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:20998611G>A	uc001bdr.3	-	12	2660	c.2542C>T	c.(2542-2544)CGC>TGC	p.R848C	KIF17_uc001bdp.3_Missense_Mutation_p.R126C|KIF17_uc001bdq.3_Missense_Mutation_p.R126C|KIF17_uc009vpx.2_Missense_Mutation_p.R218C|KIF17_uc001bds.3_Missense_Mutation_p.R848C	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	kinesin family member 17 isoform a	848					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			ovary(3)|skin(1)	4		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)														---	---	---	---
EIF4G3	8672	broad.mit.edu	37	1	21186948	21186948	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21186948C>A	uc001bec.2	-	19	3262	c.3006G>T	c.(3004-3006)GAG>GAT	p.E1002D	EIF4G3_uc010odi.1_Missense_Mutation_p.E606D|EIF4G3_uc010odj.1_Missense_Mutation_p.E1001D|EIF4G3_uc009vpz.2_Missense_Mutation_p.E722D|EIF4G3_uc001bed.2_Missense_Mutation_p.E1002D|EIF4G3_uc001bef.2_Missense_Mutation_p.E1038D|EIF4G3_uc001bee.2_Missense_Mutation_p.E1008D	NM_003760	NP_003751	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4	1002	eIF3/EIF4A-binding (By similarity).|Potential.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			skin(1)	1		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)														---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22169274	22169274	+	Missense_Mutation	SNP	C	T	T	rs143274889		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22169274C>T	uc001bfj.2	-	67	8939	c.8899G>A	c.(8899-8901)GCC>ACC	p.A2967T	HSPG2_uc009vqd.2_Missense_Mutation_p.A2968T	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	2967	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)													---	---	---	---
C1QC	714	broad.mit.edu	37	1	22974271	22974271	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22974271G>A	uc001bgc.3	+	3	836	c.733G>A	c.(733-735)GAC>AAC	p.D245N	C1QC_uc001bga.3_Missense_Mutation_p.D245N|C1QC_uc001bgb.2_Missense_Mutation_p.D245N	NM_172369	NP_758957	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	245	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen					0		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)													---	---	---	---
ASAP3	55616	broad.mit.edu	37	1	23763747	23763747	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:23763747G>A	uc001bha.2	-	14	1342	c.1218C>T	c.(1216-1218)AGC>AGT	p.S406S	ASAP3_uc001bgy.1_5'Flank|ASAP3_uc001bgz.1_5'Flank|ASAP3_uc010odz.1_Silent_p.S275S|ASAP3_uc010oea.1_Silent_p.S397S|ASAP3_uc001bhb.2_5'UTR	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH	406					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			large_intestine(1)|ovary(1)|skin(1)	3																		---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24390570	24390570	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24390570G>A	uc001bin.3	-	30	3777	c.3614C>T	c.(3613-3615)ACG>ATG	p.T1205M	MYOM3_uc001bil.3_Missense_Mutation_p.T98M|MYOM3_uc001bim.3_Missense_Mutation_p.T862M	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	1205	Ig-like C2-type 3.									skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)														---	---	---	---
MYOM3	127294	broad.mit.edu	37	1	24413139	24413139	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24413139G>A	uc001bin.3	-	15	1956	c.1793C>T	c.(1792-1794)CCG>CTG	p.P598L	MYOM3_uc001bim.3_Missense_Mutation_p.P255L|MYOM3_uc001bio.2_Missense_Mutation_p.P598L|MYOM3_uc001bip.1_Missense_Mutation_p.P255L	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	myomesin family, member 3	598										skin(2)|ovary(1)	3		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)														---	---	---	---
SEPN1	57190	broad.mit.edu	37	1	26140434	26140434	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26140434G>A	uc010oer.1	+	14	1505	c.1450G>A	c.(1450-1452)GAG>AAG	p.E484K	SEPN1_uc010oes.1_Missense_Mutation_p.E450K	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	selenoprotein N, 1 isoform 1 precursor	484						endoplasmic reticulum membrane|extracellular region	protein binding			ovary(2)	2		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;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
ZNF683	257101	broad.mit.edu	37	1	26691418	26691418	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26691418T>C	uc001bmg.1	-	4	737	c.619A>G	c.(619-621)ACC>GCC	p.T207A	ZNF683_uc001bmh.1_Missense_Mutation_p.T207A|ZNF683_uc009vsj.1_Missense_Mutation_p.T207A	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)														---	---	---	---
SLC9A1	6548	broad.mit.edu	37	1	27428295	27428295	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27428295G>A	uc001bnm.2	-	10	2584	c.1958C>T	c.(1957-1959)ACG>ATG	p.T653M	SLC9A1_uc001bnl.2_Missense_Mutation_p.T157M|SLC9A1_uc010ofk.1_Missense_Mutation_p.T314M	NM_003047	NP_003038	P19634	SL9A1_HUMAN	solute carrier family 9, isoform A1	653	Cytoplasmic (Potential).				regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			ovary(1)|central_nervous_system(1)	2				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)													---	---	---	---
WDTC1	23038	broad.mit.edu	37	1	27620579	27620579	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27620579G>A	uc009vst.2	+	8	1264	c.729G>A	c.(727-729)CCG>CCA	p.P243P	WDTC1_uc001bno.2_Silent_p.P243P|WDTC1_uc001bnp.1_RNA|WDTC1_uc001bnq.2_5'Flank	NM_015023	NP_055838	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	243							protein binding			ovary(1)|central_nervous_system(1)	2		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)														---	---	---	---
AHDC1	27245	broad.mit.edu	37	1	27873887	27873887	+	Silent	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27873887G>C	uc009vsy.2	-	6	5709	c.4740C>G	c.(4738-4740)GGC>GGG	p.G1580G	AHDC1_uc009vsz.1_Silent_p.G1580G	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1580							DNA binding			central_nervous_system(1)	1		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)														---	---	---	---
FGR	2268	broad.mit.edu	37	1	27943412	27943412	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:27943412C>T	uc001boj.2	-	5	784	c.638G>A	c.(637-639)CGG>CAG	p.R213Q	FGR_uc001boi.2_5'Flank|FGR_uc001bok.2_Missense_Mutation_p.R213Q|FGR_uc001bol.2_Missense_Mutation_p.R213Q|FGR_uc001bom.2_Missense_Mutation_p.R213Q	NM_005248	NP_005239	P09769	FGR_HUMAN	proto-oncogene tyrosine-protein kinase FGR	213	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			skin(2)	2		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---
YTHDF2	51441	broad.mit.edu	37	1	29069723	29069723	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29069723G>A	uc001brc.2	+	4	1438	c.941G>A	c.(940-942)AGC>AAC	p.S314N	YTHDF2_uc001brd.2_Missense_Mutation_p.S311N|YTHDF2_uc010ofx.1_Missense_Mutation_p.S264N|YTHDF2_uc001bre.2_Missense_Mutation_p.S264N	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN	high glucose-regulated protein 8	314					humoral immune response					ovary(1)|skin(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---
PUM1	9698	broad.mit.edu	37	1	31406184	31406184	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:31406184C>T	uc001bsi.1	-	22	3548	c.3435G>A	c.(3433-3435)CGG>CGA	p.R1145R	PUM1_uc001bsf.1_Silent_p.R813R|PUM1_uc001bsg.1_Silent_p.R879R|PUM1_uc001bsh.1_Silent_p.R1147R|PUM1_uc001bsj.1_Silent_p.R1121R|PUM1_uc010oga.1_Silent_p.R1003R|PUM1_uc001bsk.1_Silent_p.R1183R|PUM1_uc010ogb.1_Silent_p.R1086R	NM_014676	NP_055491	Q14671	PUM1_HUMAN	pumilio 1 isoform 2	1145	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)														---	---	---	---
TINAGL1	64129	broad.mit.edu	37	1	32050770	32050770	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32050770C>T	uc001bta.2	+	8	1002	c.876C>T	c.(874-876)TGC>TGT	p.C292C	TINAGL1_uc001bsz.2_Silent_p.C147C|TINAGL1_uc010ogj.1_Silent_p.C261C|TINAGL1_uc010ogk.1_Silent_p.C292C	NM_022164	NP_071447	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	292					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity				0		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)														---	---	---	---
TXLNA	200081	broad.mit.edu	37	1	32655767	32655767	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32655767C>T	uc001bui.2	+	6	945	c.880C>T	c.(880-882)CGC>TGC	p.R294C	TXLNA_uc001buj.2_Missense_Mutation_p.R294C	NM_175852	NP_787048	P40222	TXLNA_HUMAN	taxilin	294	Potential.				cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			ovary(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)																---	---	---	---
DCDC2B	149069	broad.mit.edu	37	1	32678164	32678164	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32678164G>A	uc001bun.2	+	5	601	c.601G>A	c.(601-603)GGA>AGA	p.G201R		NM_001099434	NP_001092904	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	201	Doublecortin 2.				intracellular signal transduction						0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)																---	---	---	---
FAM167B	84734	broad.mit.edu	37	1	32713256	32713256	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32713256C>T	uc001buw.2	+	1	439	c.234C>T	c.(232-234)TCC>TCT	p.S78S		NM_032648	NP_116037	Q9BTA0	F167B_HUMAN	hypothetical protein LOC84734	78	Potential.									ovary(1)	1																		---	---	---	---
ZBTB8OS	339487	broad.mit.edu	37	1	33099621	33099621	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33099621C>T	uc001bvp.2	-	3	230	c.211G>A	c.(211-213)GCC>ACC	p.A71T	ZBTB8OS_uc001bvo.1_Intron|ZBTB8OS_uc001bvq.2_Missense_Mutation_p.A59T	NM_178547	NP_848642	Q8IWT0	ARCH_HUMAN	zinc finger and BTB domain containing 8 opposite	59											0		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)																---	---	---	---
KIAA1522	57648	broad.mit.edu	37	1	33235544	33235544	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33235544G>A	uc001bvv.2	+	6	723	c.587G>A	c.(586-588)CGC>CAC	p.R196H	KIAA1522_uc001bvu.1_Missense_Mutation_p.R255H|KIAA1522_uc010ohm.1_Missense_Mutation_p.R207H|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	196											0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)																---	---	---	---
S100PBP	64766	broad.mit.edu	37	1	33291743	33291743	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33291743T>C	uc001bvz.2	+	3	320	c.43T>C	c.(43-45)TCT>CCT	p.S15P	S100PBP_uc001bwa.1_Missense_Mutation_p.S15P|S100PBP_uc001bwb.1_Missense_Mutation_p.S15P|S100PBP_uc001bwc.2_Missense_Mutation_p.S15P|S100PBP_uc001bwd.2_RNA	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	S100P binding protein isoform a	15						nucleus	calcium-dependent protein binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)																---	---	---	---
CSMD2	114784	broad.mit.edu	37	1	34204903	34204903	+	Missense_Mutation	SNP	C	T	T	rs140715485	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34204903C>T	uc001bxn.1	-	15	2115	c.2086G>A	c.(2086-2088)GTT>ATT	p.V696I	CSMD2_uc001bxm.1_Missense_Mutation_p.V736I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	696	Sushi 4.|Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			ovary(6)|skin(5)|pancreas(1)	12		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)																---	---	---	---
C1orf212	113444	broad.mit.edu	37	1	35320731	35320731	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35320731C>T	uc001byb.2	-	2	968	c.551G>A	c.(550-552)CGT>CAT	p.R184H		NM_138428	NP_612437			hypothetical protein LOC113444												0		Myeloproliferative disorder(586;0.0393)																---	---	---	---
ZMYM4	9202	broad.mit.edu	37	1	35862182	35862182	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35862182G>A	uc001byt.2	+	19	3021	c.2941G>A	c.(2941-2943)GTG>ATG	p.V981M	ZMYM4_uc009vuu.2_Missense_Mutation_p.V949M|ZMYM4_uc001byu.2_Missense_Mutation_p.V657M|ZMYM4_uc009vuv.2_Missense_Mutation_p.V720M	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	zinc finger protein 262	981					multicellular organismal development		DNA binding|zinc ion binding			large_intestine(2)|ovary(1)|kidney(1)|skin(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---
COL8A2	1296	broad.mit.edu	37	1	36563271	36563271	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36563271C>T	uc001bzv.1	-	2	2018	c.2011G>A	c.(2011-2013)GAC>AAC	p.D671N	COL8A2_uc001bzw.1_Missense_Mutation_p.D606N	NM_005202	NP_005193	P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2 precursor	671	C1q.|Nonhelical region (NC1).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39806513	39806513	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:39806513G>A	uc010oiu.1	+	4	5920	c.5789G>A	c.(5788-5790)CGA>CAA	p.R1930Q	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	microfilament and actin filament cross-linker	3495					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)															---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	41978718	41978718	+	Silent	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:41978718G>T	uc001cgz.3	-	8	7387	c.6174C>A	c.(6172-6174)ACC>ACA	p.T2058T	HIVEP3_uc001cha.3_Silent_p.T2058T|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	2058	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42048026	42048026	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:42048026G>A	uc001cgz.3	-	4	3656	c.2443C>T	c.(2443-2445)CCG>TCG	p.P815S	HIVEP3_uc001cha.3_Missense_Mutation_p.P815S|HIVEP3_uc001cgy.2_RNA	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer	815	Ser-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			ovary(4)|large_intestine(1)|central_nervous_system(1)	6	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)																---	---	---	---
LEPRE1	64175	broad.mit.edu	37	1	43221293	43221293	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43221293G>A	uc001chv.2	-	6	1209	c.1096C>T	c.(1096-1098)CGA>TGA	p.R366*	LEPRE1_uc001chw.2_Nonsense_Mutation_p.R366*|LEPRE1_uc001chx.3_Nonsense_Mutation_p.R366*	NM_022356	NP_071751	Q32P28	P3H1_HUMAN	leprecan 1 isoform 1	366					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			ovary(3)|lung(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43772887	43772887	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43772887G>A	uc001ciu.2	+	5	794	c.715G>A	c.(715-717)GAC>AAC	p.D239N	TIE1_uc010okd.1_Missense_Mutation_p.D239N|TIE1_uc010oke.1_Missense_Mutation_p.D194N|TIE1_uc009vwq.2_Intron|TIE1_uc010okf.1_5'UTR|TIE1_uc010okg.1_5'UTR|TIE1_uc010okc.1_Missense_Mutation_p.D239N	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	239	Extracellular (Potential).|EGF-like 1.				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)																---	---	---	---
ERI3	79033	broad.mit.edu	37	1	44774067	44774067	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:44774067C>T	uc001clt.2	-	6	914	c.673G>A	c.(673-675)GAT>AAT	p.D225N	ERI3_uc010okv.1_Missense_Mutation_p.D48N|ERI3_uc009vxg.2_Missense_Mutation_p.D225N|ERI3_uc010okw.1_Missense_Mutation_p.D147N|ERI3_uc001clu.2_Missense_Mutation_p.D147N	NM_024066	NP_076971	O43414	ERI3_HUMAN	prion protein interacting protein	225	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
MUTYH	4595	broad.mit.edu	37	1	45797863	45797863	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:45797863T>C	uc001cnm.2	-	10	1115	c.899A>G	c.(898-900)GAG>GGG	p.E300G	MUTYH_uc009vxn.2_Missense_Mutation_p.E125G|MUTYH_uc001cnf.2_Missense_Mutation_p.E275G|MUTYH_uc009vxo.2_Missense_Mutation_p.E275G|MUTYH_uc001cng.2_Missense_Mutation_p.E286G|MUTYH_uc001cnj.2_Missense_Mutation_p.E183G|MUTYH_uc001cni.2_Missense_Mutation_p.E275G|MUTYH_uc001cnh.2_Missense_Mutation_p.E276G|MUTYH_uc001cno.2_Missense_Mutation_p.E183G|MUTYH_uc001cnk.2_Missense_Mutation_p.E160G|MUTYH_uc010oll.1_Intron|MUTYH_uc001cnl.2_Missense_Mutation_p.E289G|MUTYH_uc009vxp.2_Missense_Mutation_p.E303G|MUTYH_uc001cnn.2_Missense_Mutation_p.E290G	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	mutY homolog isoform 1	300					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding				0	Acute lymphoblastic leukemia(166;0.155)							Mis			colorectal		BER_DNA_glycosylases	MUTYH-associated_polyposis				---	---	---	---
IPP	3652	broad.mit.edu	37	1	46206988	46206988	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46206988A>G	uc001cou.2	-	3	576	c.309T>C	c.(307-309)GGT>GGC	p.G103G	IPP_uc001cos.3_Silent_p.G103G	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	103	BTB.					actin cytoskeleton|cytoplasm	actin binding			ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
MAST2	23139	broad.mit.edu	37	1	46496912	46496912	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46496912G>A	uc001cov.2	+	23	3225	c.2942G>A	c.(2941-2943)CGG>CAG	p.R981Q	MAST2_uc001cow.2_Missense_Mutation_p.R981Q|MAST2_uc001coy.1_Missense_Mutation_p.R655Q|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	981					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)																	---	---	---	---
UQCRH	7388	broad.mit.edu	37	1	46769468	46769468	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46769468T>C	uc001cpp.2	+	1	89	c.30T>C	c.(28-30)CTT>CTC	p.L10L	LRRC41_uc001cpn.2_5'Flank|LRRC41_uc010omb.1_5'Flank|LRRC41_uc001cpo.1_5'Flank|UQCRH_uc001cpq.2_RNA	NM_006004	NP_005995	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	10					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity				0	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
DMBX1	127343	broad.mit.edu	37	1	46977889	46977889	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46977889C>T	uc001cpx.2	+	4	887	c.872C>T	c.(871-873)CCG>CTG	p.P291L	DMBX1_uc001cpw.2_Missense_Mutation_p.P286L	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1 isoform b	291					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P291P(1)		ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---
SLC5A9	200010	broad.mit.edu	37	1	48701512	48701512	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:48701512G>A	uc001cro.2	+	10	1305	c.1253G>A	c.(1252-1254)CGC>CAC	p.R418H	SLC5A9_uc010oms.1_RNA|SLC5A9_uc001crn.2_Missense_Mutation_p.R443H|SLC5A9_uc010omt.1_Missense_Mutation_p.R432H|SLC5A9_uc001crp.2_Missense_Mutation_p.R85H|SLC5A9_uc010omu.1_Missense_Mutation_p.R85H	NM_001011547	NP_001011547	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/glucose	418	Cytoplasmic (Potential).					integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			ovary(3)	3																		---	---	---	---
BEND5	79656	broad.mit.edu	37	1	49208332	49208332	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:49208332G>A	uc001crx.3	-	4	901	c.857C>T	c.(856-858)GCG>GTG	p.A286V	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Missense_Mutation_p.A117V	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	286										skin(1)	1																		---	---	---	---
OSBPL9	114883	broad.mit.edu	37	1	52238348	52238348	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52238348A>G	uc001cst.2	+	14	1142	c.1123A>G	c.(1123-1125)ATC>GTC	p.I375V	OSBPL9_uc001css.2_Missense_Mutation_p.I380V|OSBPL9_uc001csx.2_RNA|OSBPL9_uc009vza.2_Missense_Mutation_p.I376V|OSBPL9_uc001csu.2_Missense_Mutation_p.I385V|OSBPL9_uc001csv.2_Missense_Mutation_p.I210V|OSBPL9_uc001csw.2_Missense_Mutation_p.I362V|OSBPL9_uc001csy.2_Missense_Mutation_p.I197V|OSBPL9_uc001csz.2_Missense_Mutation_p.I197V|OSBPL9_uc001cta.2_Missense_Mutation_p.I265V|OSBPL9_uc001ctb.2_Missense_Mutation_p.I160V	NM_024586	NP_078862	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9 isoform e	375					lipid transport		lipid binding			central_nervous_system(1)	1																		---	---	---	---
C1orf123	54987	broad.mit.edu	37	1	53680369	53680369	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:53680369C>A	uc001cvd.2	-	8	487	c.445G>T	c.(445-447)GGA>TGA	p.G149*	C1orf123_uc001cvc.2_Nonsense_Mutation_p.G87*|C1orf123_uc001cve.2_Nonsense_Mutation_p.G130*	NM_017887	NP_060357	Q9NWV4	CA123_HUMAN	hypothetical protein LOC54987	149										pancreas(2)	2																		---	---	---	---
C1orf175	374977	broad.mit.edu	37	1	55161148	55161148	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55161148C>T	uc010ooe.1	+	17	3273	c.2949C>T	c.(2947-2949)ACC>ACT	p.T983T	C1orf175_uc001cxq.2_RNA|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Silent_p.T501T|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Silent_p.T983T|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA|C1orf175_uc009vzr.1_Silent_p.T185T|C1orf175_uc001cxu.2_Silent_p.T129T	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	hypothetical protein LOC374977	983	HEAT 1.					integral to membrane	binding				0																		---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65157211	65157211	+	Silent	SNP	C	T	T	rs144037347		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65157211C>T	uc001dbo.1	+	27	3744	c.3639C>T	c.(3637-3639)GCC>GCT	p.A1213A	CACHD1_uc001dbp.1_Silent_p.A968A|CACHD1_uc001dbq.1_Silent_p.A968A|CACHD1_uc010opa.1_Silent_p.A457A	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	1264	Cytoplasmic (Potential).				calcium ion transport	integral to membrane				ovary(2)	2																		---	---	---	---
RAVER2	55225	broad.mit.edu	37	1	65243477	65243477	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65243477G>A	uc001dbs.1	+	3	566	c.488G>A	c.(487-489)CGT>CAT	p.R163H	RAVER2_uc001dbt.1_Missense_Mutation_p.R42H|RAVER2_uc010opb.1_Missense_Mutation_p.R42H	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	163	RRM 2.					cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)	1																		---	---	---	---
LEPR	3953	broad.mit.edu	37	1	66074549	66074549	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66074549C>T	uc001dci.2	+	12	1919	c.1717C>T	c.(1717-1719)CGC>TGC	p.R573C	LEPR_uc001dcg.2_Missense_Mutation_p.R573C|LEPR_uc001dch.2_Missense_Mutation_p.R573C|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.R573C|LEPR_uc001dck.2_Missense_Mutation_p.R573C	NM_002303	NP_002294	P48357	LEPR_HUMAN	leptin receptor isoform 1	573	Extracellular (Potential).|Fibronectin type-III 2.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)														---	---	---	---
PDE4B	5142	broad.mit.edu	37	1	66723372	66723372	+	Intron	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:66723372T>C	uc001dcn.2	+						PDE4B_uc009war.2_Intron|PDE4B_uc001dco.2_Intron|PDE4B_uc001dcp.2_Intron	NM_001037341	NP_001032418			phosphodiesterase 4B isoform 1						signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			ovary(2)|central_nervous_system(1)	3					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)													---	---	---	---
C1orf173	127254	broad.mit.edu	37	1	75038567	75038567	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75038567C>T	uc001dgg.2	-	14	3046	c.2827G>A	c.(2827-2829)GGA>AGA	p.G943R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	943	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5																		---	---	---	---
WDR63	126820	broad.mit.edu	37	1	85589827	85589827	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85589827A>C	uc001dkt.2	+	19	2196	c.2005A>C	c.(2005-2007)ACC>CCC	p.T669P	WDR63_uc009wcl.2_Missense_Mutation_p.T630P	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	669										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)														---	---	---	---
PKN2	5586	broad.mit.edu	37	1	89298837	89298837	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89298837C>T	uc001dmn.2	+	21	3090	c.2748C>T	c.(2746-2748)TTC>TTT	p.F916F	PKN2_uc010osp.1_Silent_p.F900F|PKN2_uc010osq.1_Silent_p.F759F|PKN2_uc009wcv.2_Silent_p.F868F|PKN2_uc010osr.1_Silent_p.F581F	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	916	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity	p.F916fs*3(1)		large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)														---	---	---	---
RBMXL1	494115	broad.mit.edu	37	1	89449493	89449493	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89449493C>T	uc009wcx.2	-	3	733	c.17G>A	c.(16-18)CGC>CAC	p.R6H	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.R6H	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	6							nucleotide binding|RNA binding				0																OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GBP6	163351	broad.mit.edu	37	1	89845934	89845934	+	Intron	SNP	T	G	G	rs79701587		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89845934T>G	uc001dnf.2	+						GBP6_uc010ost.1_Intron	NM_198460	NP_940862			guanylate binding protein family, member 6								GTP binding|GTPase activity			ovary(2)	2		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)														---	---	---	---
HFM1	164045	broad.mit.edu	37	1	91728052	91728052	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91728052C>A	uc001doa.3	-	37	4172	c.4072G>T	c.(4072-4074)GGA>TGA	p.G1358*	HFM1_uc009wdb.2_RNA|HFM1_uc010osu.1_Nonsense_Mutation_p.G1037*|HFM1_uc001dob.3_Nonsense_Mutation_p.G546*	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	HFM1 protein	1358							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)														---	---	---	---
CDC7	8317	broad.mit.edu	37	1	91989636	91989636	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:91989636G>T	uc001doe.2	+	12	1534	c.1369G>T	c.(1369-1371)GAC>TAC	p.D457Y	CDC7_uc001dof.2_Missense_Mutation_p.D457Y|CDC7_uc010osw.1_Missense_Mutation_p.D429Y|CDC7_uc009wdc.2_Missense_Mutation_p.D457Y|CDC7_uc009wdd.2_Missense_Mutation_p.D100Y	NM_003503	NP_003494	O00311	CDC7_HUMAN	cell division cycle 7	457	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			stomach(2)|large_intestine(1)|ovary(1)|central_nervous_system(1)	5		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)														---	---	---	---
CCDC18	343099	broad.mit.edu	37	1	93680390	93680390	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:93680390G>A	uc001dpq.2	+	12	2108	c.1940G>A	c.(1939-1941)CGT>CAT	p.R647H	CCDC18_uc009wdl.1_Missense_Mutation_p.R208H	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	sarcoma antigen NY-SAR-41	528	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)														---	---	---	---
DPYD	1806	broad.mit.edu	37	1	98058844	98058844	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:98058844C>T	uc001drv.2	-	10	1195	c.1058G>A	c.(1057-1059)CGT>CAT	p.R353H		NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	353					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)													---	---	---	---
LRRC39	127495	broad.mit.edu	37	1	100620768	100620768	+	Intron	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:100620768T>A	uc001dsw.1	-						LRRC39_uc001dsx.1_Intron|LRRC39_uc001dsy.1_Intron|LRRC39_uc001dsz.1_Intron	NM_144620	NP_653221			leucine rich repeat containing 39											ovary(2)|skin(1)	3		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)														---	---	---	---
S1PR1	1901	broad.mit.edu	37	1	101705000	101705000	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:101705000G>A	uc001dud.2	+	2	974	c.460G>A	c.(460-462)GGG>AGG	p.G154R	S1PR1_uc009weg.2_Missense_Mutation_p.G154R	NM_001400	NP_001391	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	154	Cytoplasmic (By similarity).				cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			ovary(2)|lung(1)	3																OREG0013620	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
WDR47	22911	broad.mit.edu	37	1	109556555	109556555	+	Intron	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109556555A>G	uc001dwj.2	-						WDR47_uc001dwl.2_Intron|WDR47_uc001dwi.2_Intron|WDR47_uc001dwk.2_Intron|WDR47_uc010ovf.1_Intron	NM_001142551	NP_001136023			WD repeat domain 47 isoform 3											ovary(1)	1		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)														---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109801093	109801093	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109801093T>C	uc001dxa.3	+	2	3411	c.3350T>C	c.(3349-3351)GTG>GCG	p.V1117A		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	1117	Cadherin 9.|Extracellular (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)														---	---	---	---
CELSR2	1952	broad.mit.edu	37	1	109815884	109815884	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:109815884G>A	uc001dxa.3	+	32	8496	c.8435G>A	c.(8434-8436)CGG>CAG	p.R2812Q		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	cadherin EGF LAG seven-pass G-type receptor 2	2812	Cytoplasmic (Potential).				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(4)|lung(3)|skin(1)	8		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)														---	---	---	---
SLC16A4	9122	broad.mit.edu	37	1	110919614	110919614	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:110919614G>A	uc001dzo.1	-	7	1382	c.1200C>T	c.(1198-1200)GCC>GCT	p.A400A	SLC16A4_uc009wfs.1_Silent_p.A352A|SLC16A4_uc001dzp.1_Silent_p.A232A|SLC16A4_uc010ovy.1_Silent_p.A338A|SLC16A4_uc001dzq.1_Silent_p.A170A|SLC16A4_uc010ovz.1_Silent_p.A290A	NM_004696	NP_004687	O15374	MOT5_HUMAN	solute carrier family 16, member 4	400	Helical; (Potential).					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			ovary(3)	3		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)													---	---	---	---
DENND2D	79961	broad.mit.edu	37	1	111734910	111734910	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:111734910G>A	uc001eak.1	-	8	1024	c.824C>T	c.(823-825)GCC>GTC	p.A275V	DENND2D_uc001eal.1_Missense_Mutation_p.A272V	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	275	DENN.									ovary(1)	1		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)														---	---	---	---
C1orf183	55924	broad.mit.edu	37	1	112269948	112269948	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112269948C>A	uc001ebo.1	-	2	694	c.536G>T	c.(535-537)GGG>GTG	p.G179V	C1orf183_uc001ebp.1_Missense_Mutation_p.G164V	NM_019099	NP_061972	Q9NTI7	CA183_HUMAN	hypothetical protein LOC55924 isoform 1	179										ovary(2)	2		all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05)		Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113)														---	---	---	---
KCND3	3752	broad.mit.edu	37	1	112318802	112318802	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112318802G>A	uc001ebu.1	-	8	2345	c.1865C>T	c.(1864-1866)GCG>GTG	p.A622V	KCND3_uc001ebv.1_Missense_Mutation_p.A603V	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	622	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)														---	---	---	---
KCND3	3752	broad.mit.edu	37	1	112323324	112323324	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:112323324C>T	uc001ebu.1	-	4	1839	c.1359G>A	c.(1357-1359)GCG>GCA	p.A453A	KCND3_uc001ebv.1_Silent_p.A453A	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related	453	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)														---	---	---	---
LRIG2	9860	broad.mit.edu	37	1	113666509	113666509	+	Missense_Mutation	SNP	G	A	A	rs139029257	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:113666509G>A	uc001edf.1	+	18	3182	c.2984G>A	c.(2983-2985)CGG>CAG	p.R995Q	LRIG2_uc009wgn.1_Missense_Mutation_p.R892Q	NM_014813	NP_055628	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like	995	Cytoplasmic (Potential).					cytoplasm|integral to membrane|plasma membrane				ovary(3)	3	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)														---	---	---	---
PHTF1	10745	broad.mit.edu	37	1	114255897	114255897	+	Intron	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114255897T>G	uc009wgp.1	-						PHTF1_uc001edn.2_Intron|PHTF1_uc010own.1_Silent_p.R263R|PHTF1_uc001edm.2_Intron|PHTF1_uc001edo.1_Intron	NM_006608	NP_006599			putative homeodomain transcription factor 1							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
PTPN22	26191	broad.mit.edu	37	1	114380685	114380685	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114380685C>T	uc001eds.2	-	13	1467	c.1337G>A	c.(1336-1338)CGG>CAG	p.R446Q	PTPN22_uc009wgq.2_Missense_Mutation_p.R391Q|PTPN22_uc010owo.1_Missense_Mutation_p.R202Q|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.R446Q|PTPN22_uc009wgs.2_Missense_Mutation_p.R319Q|PTPN22_uc001edu.2_Missense_Mutation_p.R446Q	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	446					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---
TRIM33	51592	broad.mit.edu	37	1	114942184	114942184	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114942184G>A	uc001eew.2	-	18	3099	c.3015C>T	c.(3013-3015)ACC>ACT	p.T1005T	TRIM33_uc010owr.1_Silent_p.T619T|TRIM33_uc010ows.1_Silent_p.T637T|TRIM33_uc001eex.2_Silent_p.T1005T	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	tripartite motif-containing 33 protein isoform	1005	Bromo.				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			lung(4)|central_nervous_system(3)|large_intestine(1)|breast(1)|skin(1)|ovary(1)	11	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)				T	RET	papillary thyroid								---	---	---	---
VANGL1	81839	broad.mit.edu	37	1	116226625	116226625	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:116226625G>A	uc001efv.1	+	6	1278	c.1007G>A	c.(1006-1008)AGG>AAG	p.R336K	VANGL1_uc009wgy.1_Missense_Mutation_p.R334K	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	vang-like 1	336	Cytoplasmic (Potential).				multicellular organismal development	integral to membrane	protein binding			central_nervous_system(1)	1	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)														---	---	---	---
ATP1A1	476	broad.mit.edu	37	1	116940562	116940562	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:116940562G>A	uc001ege.2	+	15	2365	c.2026G>A	c.(2026-2028)GAG>AAG	p.E676K	ATP1A1_uc010owv.1_Missense_Mutation_p.E645K|ATP1A1_uc010oww.1_Missense_Mutation_p.E676K|ATP1A1_uc010owx.1_Missense_Mutation_p.E645K|C1orf203_uc009whb.2_Intron|ATP1A1_uc001egh.2_5'Flank	NM_000701	NP_000692	P05023	AT1A1_HUMAN	Na+/K+ -ATPase alpha 1 subunit isoform a	676	Cytoplasmic (Potential).				ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			ovary(1)	1	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)													---	---	---	---
PPIAL4G	644591	broad.mit.edu	37	1	143767460	143767460	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:143767460C>T	uc001ejt.2	-	1	422	c.389G>A	c.(388-390)GGC>GAC	p.G130D		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like	130	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity				0																		---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144917907	144917907	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:144917907C>T	uc001elw.3	-	11	1670	c.1379G>A	c.(1378-1380)CGA>CAA	p.R460Q	NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.R526Q|PDE4DIP_uc001emc.1_Missense_Mutation_p.R460Q|PDE4DIP_uc001emd.1_Missense_Mutation_p.R460Q|PDE4DIP_uc001emb.1_Missense_Mutation_p.R623Q|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Missense_Mutation_p.R247Q	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein isoform	460	Potential.				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)				T	PDGFRB	MPD								---	---	---	---
NBPF10	100132406	broad.mit.edu	37	1	145558276	145558276	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145558276G>A	uc001emp.3	+						ANKRD35_uc010oyx.1_Intron|ANKRD35_uc001eob.1_Intron	NM_017940	NP_060410			hypothetical protein LOC55672												0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)														---	---	---	---
BCL9	607	broad.mit.edu	37	1	147095879	147095879	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:147095879C>T	uc001epq.2	+	10	4140	c.3400C>T	c.(3400-3402)CGG>TGG	p.R1134W	BCL9_uc010ozr.1_Missense_Mutation_p.R1048W	NM_004326	NP_004317	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1134	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			ovary(2)|large_intestine(2)|breast(1)|skin(1)	6	all_hematologic(923;0.115)							T	IGH@|IGL@	B-ALL								---	---	---	---
HIST2H2AC	8338	broad.mit.edu	37	1	149858829	149858829	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149858829C>T	uc001etd.2	+	1	305	c.305C>T	c.(304-306)ACC>ATC	p.T102I	HIST2H2BE_uc001etc.2_5'Flank	NM_003517	NP_003508	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	102					nucleosome assembly	nucleosome|nucleus	DNA binding			ovary(1)|skin(1)	2	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)															---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150921647	150921647	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150921647C>T	uc001evu.2	+	11	1507	c.1317C>T	c.(1315-1317)ACC>ACT	p.T439T	SETDB1_uc009wmf.2_Silent_p.T439T|SETDB1_uc001evv.2_Silent_p.T439T|SETDB1_uc009wmg.1_Silent_p.T439T	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	SET domain, bifurcated 1 isoform 1	439					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)															---	---	---	---
SEMA6C	10500	broad.mit.edu	37	1	151110553	151110553	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151110553C>T	uc001ewu.2	-	9	876	c.576G>A	c.(574-576)GCG>GCA	p.A192A	SEMA6C_uc001ewv.2_Silent_p.A192A|SEMA6C_uc001eww.2_Intron|SEMA6C_uc010pcq.1_Silent_p.A192A|SEMA6C_uc009wml.1_RNA	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	192	Extracellular (Potential).|Sema.					integral to membrane	receptor activity	p.A192G(1)		ovary(1)|skin(1)	2	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;0.211)															---	---	---	---
SEMA6C	10500	broad.mit.edu	37	1	151112543	151112543	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151112543G>A	uc001ewu.2	-	4	442	c.142C>T	c.(142-144)CGG>TGG	p.R48W	SEMA6C_uc001ewv.2_Missense_Mutation_p.R48W|SEMA6C_uc001eww.2_Missense_Mutation_p.R48W|SEMA6C_uc010pcq.1_Missense_Mutation_p.R48W|SEMA6C_uc009wml.1_RNA	NM_030913	NP_112175	Q9H3T2	SEM6C_HUMAN	semaphorin Y precursor	48	Extracellular (Potential).|Sema.					integral to membrane	receptor activity			ovary(1)|skin(1)	2	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;0.211)															---	---	---	---
CGN	57530	broad.mit.edu	37	1	151502454	151502454	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151502454C>T	uc009wmw.2	+	12	2320	c.2176C>T	c.(2176-2178)CGG>TGG	p.R726W		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	cingulin	720	Glu-rich.|Potential.					myosin complex|tight junction	actin binding|motor activity			ovary(2)|pancreas(1)	3	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)															---	---	---	---
TUFT1	7286	broad.mit.edu	37	1	151554167	151554167	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151554167G>A	uc001eyl.2	+	13	1219	c.1157G>A	c.(1156-1158)CGA>CAA	p.R386Q	TUFT1_uc001eym.2_Missense_Mutation_p.R361Q|TUFT1_uc010pdf.1_Missense_Mutation_p.R405Q|TUFT1_uc010pdg.1_Missense_Mutation_p.R334Q	NM_020127	NP_064512	Q9NNX1	TUFT1_HUMAN	tuftelin 1 isoform 1	386					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)															---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152059548	152059548	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152059548C>A	uc001ezo.1	-	3	675	c.610G>T	c.(610-612)GGC>TGC	p.G204C		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	204							calcium ion binding			ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152080033	152080033	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152080033C>T	uc001ezp.2	-	2	5660	c.5660G>A	c.(5659-5661)CGC>CAC	p.R1887H	TCHH_uc009wne.1_Missense_Mutation_p.R1887H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	1887	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152083992	152083992	+	Silent	SNP	C	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152083992C>G	uc001ezp.2	-	2	1701	c.1701G>C	c.(1699-1701)CTG>CTC	p.L567L	TCHH_uc009wne.1_Silent_p.L567L	NM_007113	NP_009044	Q07283	TRHY_HUMAN	trichohyalin	567	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			ovary(3)|kidney(1)|central_nervous_system(1)	5	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
LCE3D	84648	broad.mit.edu	37	1	152552219	152552219	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152552219C>T	uc001fab.2	-	2	251	c.194G>A	c.(193-195)CGC>CAC	p.R65H		NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	65					keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)														---	---	---	---
LCE2A	353139	broad.mit.edu	37	1	152671467	152671467	+	Silent	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152671467T>A	uc001faj.2	+	2	141	c.90T>A	c.(88-90)CCT>CCA	p.P30P		NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	30	Cys-rich.				keratinization						0	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---
LCE1B	353132	broad.mit.edu	37	1	152785077	152785077	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152785077G>A	uc001faq.2	+	1	631	c.155G>A	c.(154-156)TGT>TAT	p.C52Y		NM_178349	NP_848126	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	52	Gly-rich.				keratinization						0	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---
DENND4B	9909	broad.mit.edu	37	1	153914361	153914361	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153914361G>A	uc001fdd.1	-	6	1440	c.1039C>T	c.(1039-1041)CGC>TGC	p.R347C		NM_014856	NP_055671	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	347	DENN.									ovary(1)	1	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
JTB	10899	broad.mit.edu	37	1	153947152	153947152	+	3'UTR	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:153947152T>C	uc001fds.2	-	5						NM_006694	NP_006685			jumping translocation breakpoint precursor						apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)															---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	154125290	154125290	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154125290A>G	uc001fdw.2	-	2	334	c.262T>C	c.(262-264)TGT>CGT	p.C88R	NUP210L_uc010peh.1_Missense_Mutation_p.C88R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like isoform 1	88						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)															---	---	---	---
AQP10	89872	broad.mit.edu	37	1	154296101	154296101	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154296101G>A	uc001feu.2	+	5	566	c.526G>A	c.(526-528)GCC>ACC	p.A176T	AQP10_uc001fev.2_Missense_Mutation_p.A176T|ATP8B2_uc001few.2_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	176	Helical; (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)															---	---	---	---
AQP10	89872	broad.mit.edu	37	1	154296823	154296823	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154296823C>A	uc001feu.2	+	6	813	c.773C>A	c.(772-774)GCC>GAC	p.A258D	AQP10_uc001fev.2_3'UTR|ATP8B2_uc001few.2_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	aquaporin 10	258	Extracellular (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)													OREG0013832	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ADAM15	8751	broad.mit.edu	37	1	155032782	155032782	+	Nonsense_Mutation	SNP	C	T	T	rs142428973		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155032782C>T	uc001fgr.1	+	18	2271	c.2170C>T	c.(2170-2172)CGA>TGA	p.R724*	ADAM15_uc001fgq.1_Nonsense_Mutation_p.R409*|ADAM15_uc010peu.1_Nonsense_Mutation_p.R741*|ADAM15_uc001fgt.1_Nonsense_Mutation_p.R724*|ADAM15_uc010pev.1_Nonsense_Mutation_p.R734*|ADAM15_uc001fgs.1_Nonsense_Mutation_p.R724*|ADAM15_uc001fgu.1_Nonsense_Mutation_p.R724*|ADAM15_uc001fgw.1_Nonsense_Mutation_p.R724*|ADAM15_uc001fgv.1_Nonsense_Mutation_p.R724*|ADAM15_uc001fgx.1_Nonsense_Mutation_p.R724*|ADAM15_uc001fgz.1_RNA|ADAM15_uc001fgy.1_RNA|ADAM15_uc001fha.1_RNA|ADAM15_uc001fhb.1_Nonsense_Mutation_p.R15*	NM_207197	NP_997080	Q13444	ADA15_HUMAN	a disintegrin and metalloproteinase domain 15	724	Cytoplasmic (Potential).				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			central_nervous_system(3)|skin(2)|ovary(1)	6	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)															---	---	---	---
GBA	2629	broad.mit.edu	37	1	155205047	155205047	+	Missense_Mutation	SNP	C	T	T	rs75671029	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155205047C>T	uc001fjh.2	-	10	1594	c.1444G>A	c.(1444-1446)GAC>AAC	p.D482N	RAG1AP1_uc010pey.1_Intron|GBA_uc010pfw.1_Missense_Mutation_p.D369N|GBA_uc010pfx.1_Missense_Mutation_p.D433N|GBA_uc001fji.2_Missense_Mutation_p.D482N|GBA_uc001fjj.2_Missense_Mutation_p.D482N|GBA_uc001fjk.2_Missense_Mutation_p.D482N|GBA_uc001fjl.2_Missense_Mutation_p.D482N|GBA_uc010pfy.1_Missense_Mutation_p.D395N	NM_000157	NP_000148	P04062	GLCM_HUMAN	glucocerebrosidase precursor	482			D -> N (in a patient with Parkinson disease).		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)									Gaucher_disease_type_I				---	---	---	---
FAM189B	10712	broad.mit.edu	37	1	155223727	155223727	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155223727G>A	uc001fjm.2	-	4	1042	c.436C>T	c.(436-438)CGG>TGG	p.R146W	RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_5'Flank|FAM189B_uc001fjn.2_Intron|FAM189B_uc001fjo.2_Missense_Mutation_p.R127W|FAM189B_uc001fjp.2_Intron|FAM189B_uc001fjq.1_Missense_Mutation_p.R146W	NM_006589	NP_006580	P81408	F189B_HUMAN	hypothetical protein LOC10712 isoform a	146						integral to membrane	WW domain binding			ovary(1)|breast(1)	2																		---	---	---	---
CLK2	1196	broad.mit.edu	37	1	155239316	155239316	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155239316C>T	uc001fjy.2	-	3	652	c.362G>A	c.(361-363)CGG>CAG	p.R121Q	RAG1AP1_uc010pey.1_Intron|CLK2_uc001fjw.2_Missense_Mutation_p.R121Q|CLK2_uc001fjx.2_5'UTR|CLK2_uc009wqm.2_Missense_Mutation_p.R121Q	NM_003993	NP_003984	P49760	CLK2_HUMAN	CDC-like kinase 2	121						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity				0	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)										Other_conserved_DNA_damage_response_genes					---	---	---	---
HCN3	57657	broad.mit.edu	37	1	155257023	155257023	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155257023C>T	uc001fjz.1	+	7	1545	c.1537C>T	c.(1537-1539)CGC>TGC	p.R513C	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.R208C	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	513	Cytoplasmic (Potential).|cAMP.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
HCN3	57657	broad.mit.edu	37	1	155257601	155257601	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155257601C>T	uc001fjz.1	+	8	1680	c.1672C>T	c.(1672-1674)CGC>TGC	p.R558C	RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_Missense_Mutation_p.R253C	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic	558	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)|breast(1)	2	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)															---	---	---	---
RAB25	57111	broad.mit.edu	37	1	156039993	156039993	+	Missense_Mutation	SNP	G	A	A	rs61995861		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156039993G>A	uc001fnc.2	+	5	783	c.557G>A	c.(556-558)CGG>CAG	p.R186Q		NM_020387	NP_065120	P57735	RAB25_HUMAN	RAB25	186					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding				0	Hepatocellular(266;0.158)|all_neural(408;0.195)																	---	---	---	---
SMG5	23381	broad.mit.edu	37	1	156228909	156228909	+	Missense_Mutation	SNP	C	T	T	rs151243707		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156228909C>T	uc001foc.3	-	16	2478	c.2329G>A	c.(2329-2331)GCC>ACC	p.A777T	SMG5_uc009wrv.2_Missense_Mutation_p.A262T	NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	SMG5 homolog nonsense mediated mRNA decay	777					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)																	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156533003	156533003	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156533003G>A	uc001fpf.2	-	8	796	c.721C>T	c.(721-723)CGA>TGA	p.R241*	IQGAP3_uc009wsb.1_Nonsense_Mutation_p.R198*	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	241					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			ovary(5)|skin(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)																	---	---	---	---
SH2D2A	9047	broad.mit.edu	37	1	156779465	156779465	+	Silent	SNP	G	A	A	rs143292743		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156779465G>A	uc001fqd.2	-	6	842	c.702C>T	c.(700-702)GCC>GCT	p.A234A	SH2D2A_uc001fqc.1_Silent_p.A206A|SH2D2A_uc009wsh.2_Silent_p.A244A|SH2D2A_uc001fqe.2_Silent_p.A216A|SH2D2A_uc010phs.1_Silent_p.A234A	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN	SH2 domain protein 2A isoform 2	234	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity				0	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)																	---	---	---	---
FCRL5	83416	broad.mit.edu	37	1	157485520	157485520	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157485520G>A	uc001fqu.2	-	17	3037	c.2879C>T	c.(2878-2880)GCG>GTG	p.A960V	FCRL5_uc009wsm.2_Missense_Mutation_p.R957C	NM_031281	NP_112571	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	960	Cytoplasmic (Potential).					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)																---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158639328	158639328	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158639328C>T	uc001fst.1	-	14	1902	c.1703G>A	c.(1702-1704)CGT>CAT	p.R568H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	568	Spectrin 6.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158687391	158687391	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158687391T>C	uc010pip.1	-	1	563	c.563A>G	c.(562-564)AAC>AGC	p.N188S		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K,	188	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	all_hematologic(112;0.0378)																	---	---	---	---
OR6N1	128372	broad.mit.edu	37	1	158736247	158736247	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158736247C>A	uc010piq.1	-	1	226	c.226G>T	c.(226-228)GCC>TCC	p.A76S		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N,	76	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_hematologic(112;0.0378)																	---	---	---	---
OR6N2	81442	broad.mit.edu	37	1	158746934	158746934	+	Silent	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158746934G>T	uc010pir.1	-	1	492	c.492C>A	c.(490-492)TCC>TCA	p.S164S		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N,	164	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(112;0.0378)																	---	---	---	---
IFI16	3428	broad.mit.edu	37	1	159021882	159021882	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159021882A>G	uc001ftg.2	+	9	2201	c.1911A>G	c.(1909-1911)GTA>GTG	p.V637V	IFI16_uc010pis.1_Silent_p.V637V|IFI16_uc001fth.2_Silent_p.V180V|IFI16_uc010pit.1_Silent_p.V236V	NM_005531	NP_005522	Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	693	HIN-200 2.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			ovary(1)	1	all_hematologic(112;0.0429)																	---	---	---	---
CADM3	57863	broad.mit.edu	37	1	159163698	159163698	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159163698A>C	uc001ftl.2	+	5	701	c.559A>C	c.(559-561)ACC>CCC	p.T187P	CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Missense_Mutation_p.T221P	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	cell adhesion molecule 3 isoform 2	187	Ig-like C2-type 1.|Extracellular (Potential).				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			ovary(2)	2	all_hematologic(112;0.0429)																	---	---	---	---
ITLN2	142683	broad.mit.edu	37	1	160922427	160922427	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160922427C>T	uc001fxd.2	-	3	234	c.176G>A	c.(175-177)CGC>CAC	p.R59H	ITLN2_uc009wts.2_Missense_Mutation_p.R58H|ITLN2_uc010pju.1_5'UTR	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	intelectin 2 precursor	59	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			ovary(1)	1	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)															---	---	---	---
ARHGAP30	257106	broad.mit.edu	37	1	161017913	161017913	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161017913C>T	uc001fxl.2	-	12	3244	c.2898G>A	c.(2896-2898)CCG>CCA	p.P966P	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Silent_p.P755P|ARHGAP30_uc001fxm.2_Silent_p.P812P|ARHGAP30_uc009wtx.2_Silent_p.P639P	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	966					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)															---	---	---	---
ARHGAP30	257106	broad.mit.edu	37	1	161018111	161018111	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161018111A>G	uc001fxl.2	-	12	3046	c.2700T>C	c.(2698-2700)CCT>CCC	p.P900P	USF1_uc001fxi.2_5'Flank|USF1_uc001fxj.2_5'Flank|ARHGAP30_uc001fxk.2_Silent_p.P689P|ARHGAP30_uc001fxm.2_Silent_p.P746P|ARHGAP30_uc009wtx.2_Silent_p.P573P	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	900	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)															---	---	---	---
ARHGAP30	257106	broad.mit.edu	37	1	161039378	161039378	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161039378C>T	uc001fxl.2	-	1	383	c.37G>A	c.(37-39)GCA>ACA	p.A13T	ARHGAP30_uc001fxk.2_Missense_Mutation_p.A13T|ARHGAP30_uc001fxm.2_5'UTR|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_5'UTR	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	13					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			ovary(2)|upper_aerodigestive_tract(1)	3	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)															---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161049470	161049470	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161049470C>T	uc001fxo.2	-	2	648	c.349G>A	c.(349-351)GCA>ACA	p.A117T		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4 precursor	117	Ig-like V-type 1.|Extracellular (Potential).				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				ovary(2)	2	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)															---	---	---	---
ADAMTS4	9507	broad.mit.edu	37	1	161167854	161167854	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161167854G>A	uc001fyt.3	-	1	992	c.564C>T	c.(562-564)AGC>AGT	p.S188S	ADAMTS4_uc001fyu.2_Silent_p.S188S|NDUFS2_uc001fyv.2_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1	188					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			ovary(4)|central_nervous_system(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)															---	---	---	---
FCRLB	127943	broad.mit.edu	37	1	161693278	161693278	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161693278C>T	uc001gbh.2	+	5	408	c.174C>T	c.(172-174)AGC>AGT	p.S58S	FCRLB_uc009wus.2_Silent_p.S58S|FCRLB_uc001gbj.2_Silent_p.S58S|FCRLB_uc001gbk.2_Silent_p.S58S|FCRLB_uc001gbl.2_Silent_p.S51S|FCRLB_uc001gbm.2_Silent_p.S51S|FCRLB_uc001gbi.2_Silent_p.S58S|FCRLB_uc001gbn.3_5'Flank	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	58	Ig-like C2-type 1.					endoplasmic reticulum					0	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)															---	---	---	---
DUSP12	11266	broad.mit.edu	37	1	161722911	161722911	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161722911A>C	uc001gbo.2	+	5	732	c.721A>C	c.(721-723)AGT>CGT	p.S241R	DUSP12_uc001gbp.2_Missense_Mutation_p.S111R	NM_007240	NP_009171	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	241					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)	1	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)															---	---	---	---
ATF6	22926	broad.mit.edu	37	1	161761995	161761995	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161761995C>T	uc001gbr.2	+	6	633	c.566C>T	c.(565-567)GCA>GTA	p.A189V	ATF6_uc001gbq.1_Missense_Mutation_p.A189V	NM_007348	NP_031374	P18850	ATF6A_HUMAN	activating transcription factor 6	189	Cytoplasmic (Potential).				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)|skin(1)	3	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)															---	---	---	---
OLFML2B	25903	broad.mit.edu	37	1	161967626	161967626	+	Missense_Mutation	SNP	C	T	T	rs141316615	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161967626C>T	uc001gbu.2	-	6	1887	c.1463G>A	c.(1462-1464)CGG>CAG	p.R488Q	OLFML2B_uc010pkq.1_Missense_Mutation_p.R489Q	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B precursor	488										skin(1)	1	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)															---	---	---	---
NOS1AP	9722	broad.mit.edu	37	1	162302876	162302876	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:162302876C>T	uc001gbv.2	+	5	801	c.414C>T	c.(412-414)AGC>AGT	p.S138S	NOS1AP_uc010pkr.1_Silent_p.S133S|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Silent_p.S133S	NM_014697	NP_055512	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor	138	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			lung(2)|upper_aerodigestive_tract(1)	3	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)															---	---	---	---
RXRG	6258	broad.mit.edu	37	1	165380320	165380320	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:165380320G>A	uc001gda.2	-	5	949	c.649C>T	c.(649-651)CGA>TGA	p.R217*		NM_006917	NP_008848	P48443	RXRG_HUMAN	retinoid X receptor, gamma isoform a	217	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)													---	---	---	---
POGK	57645	broad.mit.edu	37	1	166818865	166818865	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166818865G>A	uc001gdt.1	+	5	1169	c.1049G>A	c.(1048-1050)CGC>CAC	p.R350H	POGK_uc010ple.1_Missense_Mutation_p.R265H|POGK_uc010plf.1_Missense_Mutation_p.R232H	NM_017542	NP_060012	Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	350					multicellular organismal development|regulation of transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1																		---	---	---	---
ILDR2	387597	broad.mit.edu	37	1	166890585	166890585	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:166890585G>A	uc001gdx.1	-	9	1299	c.1243C>T	c.(1243-1245)CGG>TGG	p.R415W		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor	415	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1																		---	---	---	---
POU2F1	5451	broad.mit.edu	37	1	167365519	167365519	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:167365519G>A	uc001gec.2	+						POU2F1_uc010plg.1_Intron|POU2F1_uc001ged.2_Intron|POU2F1_uc001gee.2_Intron|POU2F1_uc010plh.1_Intron|POU2F1_uc001gef.2_Intron|POU2F1_uc001geg.2_Intron|POU2F1_uc009wvg.1_5'Flank	NM_002697	NP_002688			POU class 2 homeobox 1						negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|skin(2)|breast(1)	5																		---	---	---	---
DCAF6	55827	broad.mit.edu	37	1	167992289	167992289	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:167992289C>T	uc001gew.2	+						DCAF6_uc001gev.2_Intron|DCAF6_uc001gex.2_Intron|DCAF6_uc010plk.1_Intron|DCAF6_uc001gey.2_Intron	NM_001017977	NP_001017977			IQ motif and WD repeats 1 isoform b						positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
F5	2153	broad.mit.edu	37	1	169529841	169529841	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169529841G>A	uc001ggg.1	-	4	682	c.537C>T	c.(535-537)ATC>ATT	p.I179I	F5_uc010plr.1_RNA	NM_000130	NP_000121	P12259	FA5_HUMAN	coagulation factor V precursor	179	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)													---	---	---	---
SELE	6401	broad.mit.edu	37	1	169701061	169701061	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169701061G>A	uc001ggm.3	-	4	601	c.444C>T	c.(442-444)TGC>TGT	p.C148C	C1orf112_uc001ggj.2_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	selectin E precursor	148	EGF-like.|Extracellular (Potential).				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			ovary(3)|skin(2)	5	all_hematologic(923;0.208)																	---	---	---	---
C1orf112	55732	broad.mit.edu	37	1	169796914	169796914	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169796914C>T	uc001ggp.2	+	13	1370	c.1060C>T	c.(1060-1062)CCA>TCA	p.P354S	C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Missense_Mutation_p.P354S|C1orf112_uc009wvt.2_Missense_Mutation_p.P31S|C1orf112_uc010plu.1_Intron|C1orf112_uc009wvu.1_Missense_Mutation_p.P230S|C1orf112_uc001ggr.2_Missense_Mutation_p.P219S|C1orf112_uc010plv.1_Missense_Mutation_p.P296S	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	hypothetical protein LOC55732	354											0	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	169993641	169993641	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:169993641T>C	uc001ggv.2	-	9	1209	c.938A>G	c.(937-939)GAT>GGT	p.D313G	KIFAP3_uc010plx.1_Missense_Mutation_p.D15G	NM_014970	NP_055785	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	313					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
MYOC	4653	broad.mit.edu	37	1	171605471	171605471	+	Missense_Mutation	SNP	G	A	A	rs74315330		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171605471G>A	uc001ghu.2	-	3	1131	c.1109C>T	c.(1108-1110)CCG>CTG	p.P370L	MYOC_uc010pmk.1_Missense_Mutation_p.P312L	NM_000261	NP_000252	Q99972	MYOC_HUMAN	myocilin precursor	370	Olfactomedin-like.		P -> L (in GLC1A; severe form).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			lung(1)	1	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---
SLC9A11	284525	broad.mit.edu	37	1	173494007	173494007	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173494007G>A	uc001giz.2	-	20	2848	c.2425C>T	c.(2425-2427)CGG>TGG	p.R809W	SLC9A11_uc009wwe.2_Missense_Mutation_p.R367W|SLC9A11_uc010pmq.1_RNA	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member 11	809					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity			ovary(2)	2																		---	---	---	---
MRPS14	63931	broad.mit.edu	37	1	174983885	174983885	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:174983885G>A	uc001gkk.2	-	3	324	c.307C>T	c.(307-309)CGC>TGC	p.R103C	MRPS14_uc009wwr.2_Missense_Mutation_p.R88C	NM_022100	NP_071383	O60783	RT14_HUMAN	mitochondrial ribosomal protein S14	103					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome				0																		---	---	---	---
TNN	63923	broad.mit.edu	37	1	175116086	175116086	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:175116086G>T	uc001gkl.1	+	19	3892	c.3779G>T	c.(3778-3780)TGG>TTG	p.W1260L		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	1260	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)												OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ANGPTL1	9068	broad.mit.edu	37	1	178834841	178834841	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:178834841C>T	uc001gma.2	-	3	547	c.71G>A	c.(70-72)GGA>GAA	p.G24E	RALGPS2_uc001gly.1_Intron|RALGPS2_uc001glz.2_Intron|RALGPS2_uc010pnb.1_Intron|ANGPTL1_uc001gmb.2_Missense_Mutation_p.G24E|ANGPTL1_uc010pnc.1_5'UTR	NM_004673	NP_004664	O95841	ANGL1_HUMAN	angiopoietin-like 1 precursor	24						extracellular space	receptor binding				0																		---	---	---	---
SOAT1	6646	broad.mit.edu	37	1	179317995	179317995	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:179317995C>T	uc001gml.2	+	13	1295	c.1232C>T	c.(1231-1233)ACG>ATG	p.T411M	SOAT1_uc010pni.1_Missense_Mutation_p.T346M|SOAT1_uc001gmm.2_Missense_Mutation_p.T353M|SOAT1_uc010pnj.1_Missense_Mutation_p.T147M|SOAT1_uc010pnk.1_Missense_Mutation_p.T346M	NM_003101	NP_003092	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	411					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|skin(1)	2					Ezetimibe(DB00973)|Hesperetin(DB01094)													---	---	---	---
LHX4	89884	broad.mit.edu	37	1	180240614	180240614	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:180240614G>A	uc001goe.1	+	4	774	c.551G>A	c.(550-552)CGG>CAG	p.R184Q	uc001gof.1_RNA	NM_033343	NP_203129	Q969G2	LHX4_HUMAN	LIM homeobox protein 4	184	Homeobox.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1																		---	---	---	---
RGL1	23179	broad.mit.edu	37	1	183869285	183869285	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:183869285G>A	uc001gqo.2	+	11	1389	c.1232G>A	c.(1231-1233)GGT>GAT	p.G411D	RGL1_uc010pof.1_Missense_Mutation_p.G216D|RGL1_uc001gqm.2_Missense_Mutation_p.G446D|RGL1_uc010pog.1_Missense_Mutation_p.G409D|RGL1_uc010poh.1_Missense_Mutation_p.G409D|RGL1_uc010poi.1_Intron	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation	411	Ras-GEF.				cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|ovary(4)|lung(2)	11																		---	---	---	---
C1orf26	54823	broad.mit.edu	37	1	185173972	185173972	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185173972G>T	uc001grg.3	+	12	1924	c.1810G>T	c.(1810-1812)GCT>TCT	p.A604S	C1orf26_uc001grh.3_Missense_Mutation_p.A604S	NM_001105518	NP_001098988	Q5T5J6	SWT1_HUMAN	hypothetical protein LOC54823	604											0																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	185958608	185958608	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:185958608C>T	uc001grq.1	+						HMCN1_uc001grr.1_Intron	NM_031935	NP_114141			hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186023068	186023068	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186023068C>T	uc001grq.1	+	44	7041	c.6812C>T	c.(6811-6813)GCG>GTG	p.A2271V		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	2271	Ig-like C2-type 20.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186088422	186088422	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186088422A>G	uc001grq.1	+	78	12177	c.11948A>G	c.(11947-11949)CAT>CGT	p.H3983R		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3983	Ig-like C2-type 38.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186113486	186113486	+	Intron	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186113486T>C	uc001grq.1	+						HMCN1_uc001grs.1_Intron	NM_031935	NP_114141			hemicentin 1 precursor						response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---
FAM5C	339479	broad.mit.edu	37	1	190250845	190250845	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:190250845A>G	uc001gse.1	-	3	504	c.272T>C	c.(271-273)GTT>GCT	p.V91A	FAM5C_uc010pot.1_Intron	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	family with sequence similarity 5, member C	91						extracellular region				lung(2)|ovary(1)|kidney(1)|skin(1)	5	Prostate(682;0.198)																	---	---	---	---
KCNT2	343450	broad.mit.edu	37	1	196285104	196285104	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196285104C>T	uc001gtd.1	-	21	2461	c.2401G>A	c.(2401-2403)GTG>ATG	p.V801M	KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.V727M|KCNT2_uc001gtf.1_Missense_Mutation_p.V777M|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.V777M|KCNT2_uc001gth.1_Missense_Mutation_p.V298M	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	801	Cytoplasmic (Potential).					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			ovary(5)|breast(1)|skin(1)	7																		---	---	---	---
CFH	3075	broad.mit.edu	37	1	196694254	196694254	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:196694254G>T	uc001gtj.3	+	12	1940	c.1700G>T	c.(1699-1701)AGA>ATA	p.R567I		NM_000186	NP_000177	P08603	CFAH_HUMAN	complement factor H isoform a precursor	567	Sushi 10.		R -> G (associated with basal laminar drusen).		complement activation, alternative pathway	extracellular space				skin(4)|ovary(1)|breast(1)	6																		---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197091623	197091623	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197091623T>C	uc001gtu.2	-	14	3750	c.3493A>G	c.(3493-3495)ACT>GCT	p.T1165A	ASPM_uc001gtv.2_Missense_Mutation_p.T1165A|ASPM_uc001gtw.3_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle)-like, microcephaly	1165	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197396662	197396662	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:197396662C>A	uc001gtz.2	+	7	2342	c.2207C>A	c.(2206-2208)ACC>AAC	p.T736N	CRB1_uc010poz.1_Missense_Mutation_p.T667N|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.T624N|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.T217N|CRB1_uc001gub.1_Missense_Mutation_p.T385N	NM_201253	NP_957705	P82279	CRUM1_HUMAN	crumbs homolog 1 precursor	736	Extracellular (Potential).|Laminin G-like 2.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			ovary(5)|skin(3)|large_intestine(1)	9																		---	---	---	---
NEK7	140609	broad.mit.edu	37	1	198288596	198288596	+	Missense_Mutation	SNP	G	A	A	rs114884409	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198288596G>A	uc001gun.3	+	10	1180	c.853G>A	c.(853-855)GTC>ATC	p.V285I		NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	285	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.V285I(1)		stomach(2)|lung(1)|ovary(1)	4																		---	---	---	---
ATP6V1G3	127124	broad.mit.edu	37	1	198498278	198498278	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198498278T>C	uc001gup.2	-	3	222	c.116A>G	c.(115-117)GAA>GGA	p.E39G	ATP6V1G3_uc009wzd.2_Missense_Mutation_p.E45G|ATP6V1G3_uc001guo.2_Silent_p.G54G	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal, V1 subunit	39	Potential.				cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)	1																		---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198685924	198685924	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198685924C>T	uc001gur.1	+	13	1579	c.1399C>T	c.(1399-1401)CGT>TGT	p.R467C	PTPRC_uc001gus.1_Missense_Mutation_p.R419C|PTPRC_uc001gut.1_Missense_Mutation_p.R306C|PTPRC_uc009wzf.1_Missense_Mutation_p.R355C|PTPRC_uc010ppg.1_Missense_Mutation_p.R403C	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	467	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12																		---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198703545	198703545	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:198703545A>C	uc001gur.1	+	22	2442	c.2262A>C	c.(2260-2262)GAA>GAC	p.E754D	PTPRC_uc001gus.1_Missense_Mutation_p.E706D|PTPRC_uc001gut.1_Missense_Mutation_p.E593D|PTPRC_uc010ppg.1_Missense_Mutation_p.E690D	NM_002838	NP_002829	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	754	Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12																		---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200587617	200587617	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200587617G>A	uc010ppk.1	-	2	674	c.235C>T	c.(235-237)CCC>TCC	p.P79S	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	79	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7																		---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201041891	201041891	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201041891T>A	uc001gvv.2	-	16	2446	c.2219A>T	c.(2218-2220)GAC>GTC	p.D740V		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type,	740	Cytoplasmic (Potential).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			ovary(3)|central_nervous_system(1)|skin(1)	5					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
IGFN1	91156	broad.mit.edu	37	1	201187676	201187676	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201187676C>T	uc001gwc.2	+	7	2040	c.1268C>T	c.(1267-1269)GCG>GTG	p.A423V	IGFN1_uc001gwb.2_RNA	NM_178275	NP_840059			RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;											ovary(2)|pancreas(1)	3																		---	---	---	---
TNNT2	7139	broad.mit.edu	37	1	201330503	201330503	+	Intron	SNP	C	T	T	rs113471285		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201330503C>T	uc001gwf.2	-						TNNT2_uc009wzn.2_5'Flank|TNNT2_uc009wzo.2_5'Flank|TNNT2_uc009wzp.2_Intron|TNNT2_uc001gwg.2_Intron|TNNT2_uc001gwh.2_Intron|TNNT2_uc001gwi.2_Intron|TNNT2_uc009wzr.2_Intron	NM_000364	NP_000355			troponin T type 2, cardiac isoform 1						ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding				0																OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
TNNI1	7135	broad.mit.edu	37	1	201382258	201382258	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201382258C>T	uc010ppq.1	-						TNNI1_uc001gwo.1_Intron|TNNI1_uc001gwp.2_Intron	NM_003281	NP_003272			troponin I, skeletal, slow						muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding				0																		---	---	---	---
KDM5B	10765	broad.mit.edu	37	1	202718153	202718153	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202718153C>T	uc001gyf.2	-	14	2052	c.1936G>A	c.(1936-1938)GTA>ATA	p.V646I	KDM5B_uc009xag.2_Missense_Mutation_p.V682I|KDM5B_uc001gyg.1_Missense_Mutation_p.V488I	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	jumonji, AT rich interactive domain 1B	646					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(2)|urinary_tract(1)	5																		---	---	---	---
TMEM183A	92703	broad.mit.edu	37	1	202976946	202976946	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202976946T>C	uc001gyu.1	+	2	212	c.154T>C	c.(154-156)TCT>CCT	p.S52P	TMEM183A_uc009xai.1_Missense_Mutation_p.S52P|TMEM183A_uc001gyv.1_RNA|TMEM183A_uc001gyw.1_Missense_Mutation_p.S52P|TMEM183A_uc001gyx.1_Missense_Mutation_p.S52P	NM_001079809	NP_001073277	Q8IXX5	T183A_HUMAN	transmembrane protein 183B	52						integral to membrane					0			BRCA - Breast invasive adenocarcinoma(75;0.18)															---	---	---	---
FMOD	2331	broad.mit.edu	37	1	203316893	203316893	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203316893C>T	uc001gzr.2	-	2	642	c.506G>A	c.(505-507)CGG>CAG	p.R169Q	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	169	LRR 3.				transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)															---	---	---	---
ZC3H11A	9877	broad.mit.edu	37	1	203798998	203798998	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203798998G>A	uc001hac.2	+	9	1209	c.593G>A	c.(592-594)CGG>CAG	p.R198Q	ZC3H11A_uc001had.2_Missense_Mutation_p.R198Q|ZC3H11A_uc001hae.2_Missense_Mutation_p.R198Q|ZC3H11A_uc001haf.2_Missense_Mutation_p.R198Q|ZC3H11A_uc010pqm.1_Missense_Mutation_p.R144Q|ZC3H11A_uc001hag.1_Missense_Mutation_p.R198Q	NM_014827	NP_055642	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	198							nucleic acid binding|protein binding|zinc ion binding			lung(1)|central_nervous_system(1)	2	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)															---	---	---	---
REN	5972	broad.mit.edu	37	1	204124992	204124992	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204124992C>T	uc001haq.2	-	9	1059	c.1015G>A	c.(1015-1017)GGA>AGA	p.G339R		NM_000537	NP_000528	P00797	RENI_HUMAN	renin preproprotein	339					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			skin(3)|central_nervous_system(1)	4	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)													---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204587238	204587238	+	Missense_Mutation	SNP	C	T	T	rs142606457		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204587238C>T	uc001hbe.1	-	3	2271	c.1883G>A	c.(1882-1884)CGT>CAT	p.R628H	MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Missense_Mutation_p.R628H|LRRN2_uc009xbf.1_Missense_Mutation_p.R628H|MDM4_uc001hbc.2_Intron	NM_006338	NP_006329	O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2 precursor	628	Extracellular (Potential).				cell adhesion	integral to membrane	receptor activity			central_nervous_system(2)	2	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)															---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204921143	204921143	+	Silent	SNP	G	A	A	rs111823167		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204921143G>A	uc001hbj.2	+	5	442	c.114G>A	c.(112-114)ACG>ACA	p.T38T	NFASC_uc001hbh.2_Silent_p.T38T|NFASC_uc010pqz.1_Silent_p.T32T|NFASC_uc010pra.1_Silent_p.T32T|NFASC_uc001hbi.2_Silent_p.T32T|NFASC_uc009xbg.1_Silent_p.T105T|NFASC_uc010prb.1_Silent_p.T32T|NFASC_uc010prc.1_5'UTR	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	38	Extracellular (Potential).				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)															---	---	---	---
CNTN2	6900	broad.mit.edu	37	1	205034949	205034949	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205034949C>T	uc001hbr.2	+	14	1997	c.1728C>T	c.(1726-1728)AAC>AAT	p.N576N	CNTN2_uc001hbq.1_Silent_p.N467N|CNTN2_uc001hbs.2_Silent_p.N364N	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	contactin 2 precursor	576	Ig-like C2-type 6.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			ovary(1)	1	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)															---	---	---	---
DSTYK	25778	broad.mit.edu	37	1	205131330	205131330	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205131330C>T	uc001hbw.2	-	6	1716	c.1652G>A	c.(1651-1653)CGC>CAC	p.R551H	DSTYK_uc001hbx.2_Missense_Mutation_p.R551H|DSTYK_uc001hby.1_Missense_Mutation_p.R12H	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	receptor interacting protein kinase 5 isoform 1	551						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(1)	1																		---	---	---	---
SLC45A3	85414	broad.mit.edu	37	1	205632102	205632102	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205632102G>A	uc001hda.1	-	3	1156	c.817C>T	c.(817-819)CGG>TGG	p.R273W	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Missense_Mutation_p.R107W|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	prostein	273					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)	ovary(2)|prostate(2)	4	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)					T	ETV1|ETV5|ELK4|ERG	prostate 								---	---	---	---
NUCKS1	64710	broad.mit.edu	37	1	205687569	205687569	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205687569G>A	uc001hdb.2	-	7	831	c.571C>T	c.(571-573)CGC>TGC	p.R191C		NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent	191	Lys-rich.					nucleus					0	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)															---	---	---	---
SLC26A9	115019	broad.mit.edu	37	1	205890727	205890727	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205890727G>A	uc001hdq.2	-	17	2136	c.2022C>T	c.(2020-2022)TTC>TTT	p.F674F	SLC26A9_uc001hdo.2_Silent_p.F342F|SLC26A9_uc001hdp.2_Silent_p.F674F	NM_052934	NP_443166	Q7LBE3	S26A9_HUMAN	solute carrier family 26, member 9 isoform a	674	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			ovary(1)|skin(1)	2	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)															---	---	---	---
IL24	11009	broad.mit.edu	37	1	207071230	207071230	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207071230G>A	uc001hes.1	+						IL24_uc001het.1_Intron|IL24_uc001heu.1_Intron|IL24_uc001hev.1_Intron|IL24_uc001hew.1_Intron|IL24_uc001hex.1_Intron	NM_006850	NP_006841			interleukin 24 isoform 1 precursor						apoptosis	extracellular space	cytokine activity				0	Breast(84;0.201)																	---	---	---	---
C1orf116	79098	broad.mit.edu	37	1	207196179	207196179	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207196179G>A	uc001hfd.2	-	4	1189	c.930C>T	c.(928-930)AGC>AGT	p.S310S	C1orf116_uc009xcb.1_Silent_p.S64S	NM_023938	NP_076427	Q9BW04	SARG_HUMAN	specifically androgen-regulated protein isoform	310						cytoplasm|plasma membrane	receptor activity			skin(2)|ovary(1)|central_nervous_system(1)	4	Prostate(682;0.19)																	---	---	---	---
CR2	1380	broad.mit.edu	37	1	207647066	207647066	+	Intron	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207647066G>T	uc001hfw.2	+						CR2_uc001hfv.2_Nonsense_Mutation_p.E719*|CR2_uc009xch.2_Intron	NM_001877	NP_001868			complement component (3d/Epstein Barr virus)						complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1)	8																		---	---	---	---
CR1	1378	broad.mit.edu	37	1	207791465	207791465	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207791465C>T	uc001hfy.2	+	34	5729	c.5589C>T	c.(5587-5589)CAC>CAT	p.H1863H	CR1_uc001hfx.2_Silent_p.H2313H	NM_000573	NP_000564	P17927	CR1_HUMAN	complement receptor 1 isoform F precursor	1863	Sushi 29.|Extracellular (Potential).				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			ovary(3)	3																		---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	210971061	210971061	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:210971061G>A	uc001hib.2	-	9	1874	c.1704C>T	c.(1702-1704)TGC>TGT	p.C568C	KCNH1_uc001hic.2_Silent_p.C541C	NM_172362	NP_758872	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H,	568	Cytoplasmic (Potential).				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			ovary(4)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)														---	---	---	---
DTL	51514	broad.mit.edu	37	1	212274406	212274406	+	Missense_Mutation	SNP	G	A	A	rs145763106		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:212274406G>A	uc009xdc.2	+	14	2388	c.2074G>A	c.(2074-2076)GGA>AGA	p.G692R	DTL_uc010ptb.1_Missense_Mutation_p.G650R|DTL_uc001hiz.3_Missense_Mutation_p.G421R	NM_016448	NP_057532	Q9NZJ0	DTL_HUMAN	denticleless homolog	692					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding				0				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)														---	---	---	---
FAM71A	149647	broad.mit.edu	37	1	212799662	212799662	+	Silent	SNP	G	A	A	rs144667296		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:212799662G>A	uc001hjk.2	+	1	1847	c.1443G>A	c.(1441-1443)CCG>CCA	p.P481P	uc010pth.1_RNA	NM_153606	NP_705834	Q8IYT1	FA71A_HUMAN	hypothetical protein LOC149647	481										skin(3)|ovary(1)|central_nervous_system(1)	5				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)														---	---	---	---
PROX1	5629	broad.mit.edu	37	1	214171008	214171008	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:214171008G>A	uc001hkh.2	+	2	1402	c.1130G>A	c.(1129-1131)CGC>CAC	p.R377H	PROX1_uc001hkg.1_Missense_Mutation_p.R377H	NM_002763	NP_002754	Q92786	PROX1_HUMAN	prospero homeobox 1	377					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			ovary(3)|lung(1)|central_nervous_system(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)														---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215848809	215848809	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:215848809C>T	uc001hku.1	-	63	12831	c.12444G>A	c.(12442-12444)CTG>CTA	p.L4148L		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	4148	Fibronectin type-III 26.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216073535	216073535	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216073535C>T	uc001hku.1	-	40	7863	c.7476G>A	c.(7474-7476)TCG>TCA	p.S2492S		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2492	Extracellular (Potential).|Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216144000	216144000	+	Silent	SNP	T	C	C	rs148504065	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:216144000T>C	uc001hku.1	-	36	7311	c.6924A>G	c.(6922-6924)GCA>GCG	p.A2308A		NM_206933	NP_996816	O75445	USH2A_HUMAN	usherin isoform B	2308	Fibronectin type-III 9.|Extracellular (Potential).				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)											HNSCC(13;0.011)			---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220356238	220356238	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220356238T>C	uc010puk.1	-	20	2198	c.2034A>G	c.(2032-2034)GAA>GAG	p.E678E	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_Silent_p.E258E	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	678					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)														---	---	---	---
RAB3GAP2	25782	broad.mit.edu	37	1	220406197	220406197	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:220406197T>A	uc010puk.1	-	2	288	c.124A>T	c.(124-126)ACA>TCA	p.T42S	RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_5'UTR|RAB3GAP2_uc010pum.1_Missense_Mutation_p.T42S	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	rab3 GTPase-activating protein, non-catalytic	42					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(131;0.0443)														---	---	---	---
DEGS1	8560	broad.mit.edu	37	1	224377351	224377351	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224377351T>A	uc001hoj.2	+	2	266	c.155T>A	c.(154-156)CTC>CAC	p.L52H	DEGS1_uc001hoi.2_Missense_Mutation_p.L31H	NM_144780	NP_659004	O15121	DEGS1_HUMAN	degenerative spermatocyte homolog 1, lipid	52	Helical; (Potential).				sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity				0	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)														---	---	---	---
PARP1	142	broad.mit.edu	37	1	226568804	226568804	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226568804G>A	uc001hqd.3	-	9	1436	c.1265C>T	c.(1264-1266)ACG>ATG	p.T422M		NM_001618	NP_001609	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase family, member 1	422	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)									Direct_reversal_of_damage|PARP_enzymes_that_bind_to_DNA					---	---	---	---
ITPKB	3707	broad.mit.edu	37	1	226923323	226923323	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:226923323C>A	uc010pvo.1	-	2	2177	c.1837G>T	c.(1837-1839)GAA>TAA	p.E613*	ITPKB_uc001hqh.2_Nonsense_Mutation_p.E613*	NM_002221	NP_002212	P27987	IP3KB_HUMAN	1D-myo-inositol-trisphosphate 3-kinase B	613							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			ovary(4)|central_nervous_system(1)	5		Prostate(94;0.0773)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228475407	228475407	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228475407G>A	uc009xez.1	+	36	9601	c.9557G>A	c.(9556-9558)CGG>CAG	p.R3186Q	OBSCN_uc001hsn.2_Missense_Mutation_p.R3186Q|OBSCN_uc001hsq.1_Missense_Mutation_p.R442Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	3186	Ig-like 32.				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)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228562445	228562445	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228562445G>A	uc009xez.1	+	97	22699	c.22655G>A	c.(22654-22656)CGG>CAG	p.R7552Q	OBSCN_uc001hsr.1_Missense_Mutation_p.R2181Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and	7552	Ig-like 55.				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)																---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228565418	228565418	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228565418G>A	uc009xez.1	+						OBSCN_uc001hsr.1_Intron	NM_001098623	NP_001092093			obscurin, cytoskeletal calmodulin and						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)																---	---	---	---
HIST3H3	8290	broad.mit.edu	37	1	228612739	228612739	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:228612739C>T	uc001hsx.1	-	1	288	c.288G>A	c.(286-288)GCG>GCA	p.A96A		NM_003493	NP_003484	Q16695	H31T_HUMAN	histone cluster 3, H3	96					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0		Prostate(94;0.0724)																---	---	---	---
ABCB10	23456	broad.mit.edu	37	1	229666124	229666124	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229666124C>A	uc001htp.3	-	8	1510	c.1467G>T	c.(1465-1467)CAG>CAT	p.Q489H		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B, member 10	489	Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential).					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(2)	2	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)																---	---	---	---
COG2	22796	broad.mit.edu	37	1	230805169	230805169	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:230805169C>T	uc001htw.2	+	7	813	c.662C>T	c.(661-663)ACG>ATG	p.T221M	COG2_uc001htx.2_Missense_Mutation_p.T221M|COG2_uc010pwc.1_Missense_Mutation_p.T94M	NM_007357	NP_031383	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2 isoform	221					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity				0	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)																---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232579380	232579380	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232579380G>A	uc001hvg.2	-	10	3563	c.3405C>T	c.(3403-3405)AGC>AGT	p.S1135S	SIPA1L2_uc001hvf.2_Silent_p.S209S	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	1135					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)																---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232619595	232619595	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:232619595C>T	uc001hvg.2	-	4	2082	c.1924G>A	c.(1924-1926)GGC>AGC	p.G642S		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like	642	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)																---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234565961	234565961	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:234565961C>T	uc001hwd.2	-	15	2481	c.2481G>A	c.(2479-2481)GAG>GAA	p.E827E		NM_005646	NP_005637	Q13395	TARB1_HUMAN	TAR RNA binding protein 1	827					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			ovary(2)|skin(1)	3	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)															---	---	---	---
ARID4B	51742	broad.mit.edu	37	1	235386558	235386558	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235386558G>A	uc001hwq.2	-	13	1486	c.988C>T	c.(988-990)CGA>TGA	p.R330*	ARID4B_uc001hwr.2_Nonsense_Mutation_p.R330*|ARID4B_uc001hws.3_Nonsense_Mutation_p.R330*|ARID4B_uc001hwt.3_Nonsense_Mutation_p.R11*	NM_016374	NP_057458	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B isoform 1	330	ARID.|Glu-rich.			R -> Q (in Ref. 1; AAF28341 and 3; AAF23433).	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)															---	---	---	---
LYST	1130	broad.mit.edu	37	1	235860532	235860532	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235860532T>C	uc001hxj.2	-	46	10590	c.10415A>G	c.(10414-10416)TAC>TGC	p.Y3472C	LYST_uc001hxi.2_Missense_Mutation_p.Y696C	NM_000081	NP_000072	Q99698	LYST_HUMAN	lysosomal trafficking regulator	3472					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)											Chediak-Higashi_syndrome				---	---	---	---
NID1	4811	broad.mit.edu	37	1	236145041	236145041	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236145041G>A	uc001hxo.2	-	16	3199	c.3097C>T	c.(3097-3099)CGC>TGC	p.R1033C	NID1_uc009xgd.2_Missense_Mutation_p.R900C|NID1_uc009xgc.2_Missense_Mutation_p.R114C	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	1033	LDL-receptor class B 2.				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)													---	---	---	---
NID1	4811	broad.mit.edu	37	1	236180546	236180546	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236180546G>A	uc001hxo.2	-	10	2258	c.2156C>T	c.(2155-2157)TCA>TTA	p.S719L	NID1_uc009xgd.2_Intron	NM_002508	NP_002499	P14543	NID1_HUMAN	nidogen 1 precursor	719	EGF-like 3; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			large_intestine(1)|pancreas(1)	2	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)													---	---	---	---
ERO1LB	56605	broad.mit.edu	37	1	236384168	236384168	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236384168C>T	uc001hxt.2	-	15	1563	c.1307G>A	c.(1306-1308)CGA>CAA	p.R436Q		NM_019891	NP_063944	Q86YB8	ERO1B_HUMAN	endoplasmic reticulum oxidoreductin 1-Lbeta	436					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding				0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)															---	---	---	---
EDARADD	128178	broad.mit.edu	37	1	236645868	236645868	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236645868C>T	uc001hxu.1	+	6	632	c.567C>T	c.(565-567)GCC>GCT	p.A189A	EDARADD_uc001hxv.1_Silent_p.A179A	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain isoform A	189	Death.				cell differentiation|signal transduction	cytoplasm					0	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)															---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236907965	236907965	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:236907965C>T	uc001hyf.2	+	12	1499	c.1295C>T	c.(1294-1296)GCG>GTG	p.A432V	ACTN2_uc001hyg.2_Missense_Mutation_p.A224V|ACTN2_uc009xgi.1_Missense_Mutation_p.A432V|ACTN2_uc010pxu.1_Missense_Mutation_p.A121V|ACTN2_uc001hyh.2_Missense_Mutation_p.A120V	NM_001103	NP_001094	P35609	ACTN2_HUMAN	actinin, alpha 2	432	Spectrin 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			ovary(4)|skin(1)	5	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)															---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237713941	237713941	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237713941G>A	uc001hyl.1	+	27	3284	c.3164G>A	c.(3163-3165)CGC>CAC	p.R1055H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1055	Cytoplasmic (By similarity).|2.|B30.2/SPRY 2.|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)															---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237754062	237754062	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237754062C>T	uc001hyl.1	+	31	4050	c.3930C>T	c.(3928-3930)TGC>TGT	p.C1310C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1310	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)															---	---	---	---
CHRM3	1131	broad.mit.edu	37	1	240070844	240070844	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240070844G>A	uc001hyp.2	+	5	872	c.93G>A	c.(91-93)CCG>CCA	p.P31P		NM_000740	NP_000731	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	31	Extracellular (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)													---	---	---	---
EXO1	9156	broad.mit.edu	37	1	242030361	242030361	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242030361C>T	uc001hzh.2	+						EXO1_uc001hzi.2_Intron|EXO1_uc001hzj.2_Intron|EXO1_uc009xgq.2_Intron	NM_130398	NP_569082			exonuclease 1 isoform b						meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)										Direct_reversal_of_damage|Editing_and_processing_nucleases					---	---	---	---
C1orf101	257044	broad.mit.edu	37	1	244756729	244756729	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:244756729T>C	uc001iam.2	+	16	2281	c.2222T>C	c.(2221-2223)TTG>TCG	p.L741S	C1orf101_uc001iak.1_Missense_Mutation_p.L295S|C1orf101_uc001ial.2_Missense_Mutation_p.L741S|C1orf101_uc010pym.1_Missense_Mutation_p.L590S|C1orf101_uc010pyn.1_Missense_Mutation_p.L674S	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	hypothetical protein LOC257044 isoform 1	741	Extracellular (Potential).					integral to membrane				ovary(1)|breast(1)	2	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)															---	---	---	---
FAM36A	116228	broad.mit.edu	37	1	245005364	245005364	+	Intron	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245005364A>G	uc001iar.2	+						FAM36A_uc001ias.2_Intron|FAM36A_uc001iat.2_Intron|NCRNA00201_uc001iav.2_RNA	NM_198076	NP_932342			hypothetical protein LOC116228							integral to membrane					0	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)															---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245775157	245775157	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245775157C>T	uc001ibf.1	+	9	2417	c.1977C>T	c.(1975-1977)GCC>GCT	p.A659A	KIF26B_uc010pyq.1_Silent_p.A659A|KIF26B_uc001ibg.1_Silent_p.A277A	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	659	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245848859	245848859	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245848859C>T	uc001ibf.1	+	12	3014	c.2574C>T	c.(2572-2574)AGC>AGT	p.S858S	KIF26B_uc001ibg.1_Silent_p.S476S|KIF26B_uc001ibh.1_Silent_p.S100S	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	858					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
KIF26B	55083	broad.mit.edu	37	1	245848905	245848905	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:245848905G>A	uc001ibf.1	+	12	3060	c.2620G>A	c.(2620-2622)GCC>ACC	p.A874T	KIF26B_uc001ibg.1_Missense_Mutation_p.A492T|KIF26B_uc001ibh.1_Missense_Mutation_p.A116T	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	874					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(3)	3	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)															---	---	---	---
OR6F1	343169	broad.mit.edu	37	1	247875749	247875749	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247875749A>C	uc001idj.1	-	1	309	c.309T>G	c.(307-309)TTT>TTG	p.F103L		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F,	103	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)															---	---	---	---
OR2T1	26696	broad.mit.edu	37	1	248570229	248570229	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248570229C>T	uc010pzm.1	+	1	934	c.934C>T	c.(934-936)CCA>TCA	p.P312S		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	312	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	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)															---	---	---	---
OR2T1	26696	broad.mit.edu	37	1	248570402	248570402	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248570402T>C	uc010pzm.1	+	1	1107	c.1107T>C	c.(1105-1107)TTT>TTC	p.F369F		NM_030904	NP_112166	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T,	369	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			pancreas(1)	1	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)															---	---	---	---
ZNF672	79894	broad.mit.edu	37	1	249142111	249142111	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:249142111C>T	uc001iex.2	+	4	1333	c.638C>T	c.(637-639)ACG>ATG	p.T213M		NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	zinc finger protein 672	213	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)															---	---	---	---
PGBD2	267002	broad.mit.edu	37	1	249212032	249212032	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:249212032A>G	uc001ifh.2	+	3	1396	c.1249A>G	c.(1249-1251)AGC>GGC	p.S417G	PGBD2_uc001ifg.2_Missense_Mutation_p.S166G|PGBD2_uc009xhd.2_Missense_Mutation_p.S414G	NM_170725	NP_733843	Q6P3X8	PGBD2_HUMAN	hypothetical protein LOC267002 isoform a	417										ovary(1)	1	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)															---	---	---	---
ODC1	4953	broad.mit.edu	37	2	10582277	10582277	+	Silent	SNP	C	T	T	rs114981547	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:10582277C>T	uc010exg.1	-	9	1208	c.774G>A	c.(772-774)GCG>GCA	p.A258A	ODC1_uc002ran.1_5'Flank|ODC1_uc002rao.1_Silent_p.A258A|ODC1_uc010yjd.1_Silent_p.A128A	NM_002539	NP_002530	P11926	DCOR_HUMAN	ornithine decarboxylase 1	258					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			ovary(1)	1	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)													---	---	---	---
KCNS3	3790	broad.mit.edu	37	2	18112795	18112795	+	Nonsense_Mutation	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:18112795A>T	uc002rcv.2	+	3	971	c.520A>T	c.(520-522)AGA>TGA	p.R174*	KCNS3_uc002rcw.2_Nonsense_Mutation_p.R174*	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	174	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
KCNS3	3790	broad.mit.edu	37	2	18112796	18112796	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:18112796G>T	uc002rcv.2	+	3	972	c.521G>T	c.(520-522)AGA>ATA	p.R174I	KCNS3_uc002rcw.2_Missense_Mutation_p.R174I	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	174	Cytoplasmic (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
KCNS3	3790	broad.mit.edu	37	2	18112898	18112898	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:18112898C>T	uc002rcv.2	+	3	1074	c.623C>T	c.(622-624)TCG>TTG	p.S208L	KCNS3_uc002rcw.2_Missense_Mutation_p.S208L	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	208	Extracellular (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---
WDR35	57539	broad.mit.edu	37	2	20145702	20145702	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20145702G>A	uc002rdi.2	-	17	1831	c.1723C>T	c.(1723-1725)CGA>TGA	p.R575*	WDR35_uc002rdj.2_Nonsense_Mutation_p.R564*|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Nonsense_Mutation_p.R140*|WDR35_uc002rdk.3_Nonsense_Mutation_p.R140*	NM_001006657	NP_001006658	Q9P2L0	WDR35_HUMAN	WD repeat domain 35 isoform 1	575										ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
C2orf43	60526	broad.mit.edu	37	2	20974571	20974571	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:20974571G>A	uc002rec.2	-	4	500	c.467C>T	c.(466-468)CCG>CTG	p.P156L	C2orf43_uc002rea.1_Missense_Mutation_p.P156L|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_Missense_Mutation_p.P114L|C2orf43_uc010ykb.1_Missense_Mutation_p.P26L|C2orf43_uc010ykc.1_Missense_Mutation_p.P108L|C2orf43_uc010ykd.1_Missense_Mutation_p.P156L|C2orf43_uc010yke.1_Missense_Mutation_p.P114L|C2orf43_uc010ykf.1_Missense_Mutation_p.P26L	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	hypothetical protein LOC60526	156											0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
ITSN2	50618	broad.mit.edu	37	2	24431159	24431159	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24431159G>A	uc002rfe.2	-	37	4883	c.4625C>T	c.(4624-4626)GCG>GTG	p.A1542V	ITSN2_uc002rff.2_Missense_Mutation_p.A1515V	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	intersectin 2 isoform 1	1542	PH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			kidney(2)|ovary(1)|central_nervous_system(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25464524	25464524	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25464524C>T	uc002rgc.2	-	17	2246	c.1989G>A	c.(1987-1989)TCG>TCA	p.S663S	DNMT3A_uc002rgd.2_Silent_p.S663S|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Silent_p.S474S	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	663					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)							Mis|F|N|S		AML								---	---	---	---
KIF3C	3797	broad.mit.edu	37	2	26177191	26177191	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26177191C>T	uc002rgu.2	-	4	2491	c.1834G>A	c.(1834-1836)GTG>ATG	p.V612M	KIF3C_uc010eyj.1_RNA|KIF3C_uc010ykr.1_Missense_Mutation_p.V612M	NM_002254	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	612	Potential.				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			ovary(3)|skin(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26707419	26707419	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26707419G>A	uc002rhk.2	-	12	1255	c.1128C>T	c.(1126-1128)GAC>GAT	p.D376D		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	376	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
PREB	10113	broad.mit.edu	37	2	27354640	27354640	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27354640A>G	uc002rix.1	-	8	1312	c.1059T>C	c.(1057-1059)CCT>CCC	p.P353P	PREB_uc002riy.1_Silent_p.P281P|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Silent_p.P295P	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding protein	353	Cytoplasmic (Potential).				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
SLC30A3	7781	broad.mit.edu	37	2	27478206	27478206	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27478206G>A	uc002rjk.2	-	8	1327	c.1141C>T	c.(1141-1143)CGC>TGC	p.R381C	SLC30A3_uc002rjj.2_Silent_p.C226C|SLC30A3_uc010ylh.1_Missense_Mutation_p.R376C	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter),	381	Cytoplasmic (Potential).				regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity				0	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---
C2orf16	84226	broad.mit.edu	37	2	27799940	27799940	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27799940G>T	uc002rkz.3	+	1	552	c.501G>T	c.(499-501)TTG>TTT	p.L167F		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	hypothetical protein LOC84226	167										large_intestine(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
GALNT14	79623	broad.mit.edu	37	2	31178609	31178609	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31178609C>T	uc002rnr.2	-						GALNT14_uc002rnq.2_Intron|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Intron|GALNT14_uc010ezo.1_Intron|GALNT14_uc010ezp.1_Intron	NM_024572	NP_078848			N-acetylgalactosaminyltransferase 14							Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			upper_aerodigestive_tract(2)|skin(1)	3	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---
TTC27	55622	broad.mit.edu	37	2	32958960	32958960	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32958960C>A	uc002rom.2	+	11	1530	c.1299C>A	c.(1297-1299)TGC>TGA	p.C433*	TTC27_uc010ymx.1_Nonsense_Mutation_p.C383*|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	433							protein binding			central_nervous_system(1)	1																		---	---	---	---
TTC27	55622	broad.mit.edu	37	2	32961762	32961762	+	Missense_Mutation	SNP	G	A	A	rs142785786		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:32961762G>A	uc002rom.2	+	12	1562	c.1331G>A	c.(1330-1332)CGC>CAC	p.R444H	TTC27_uc010ymx.1_Missense_Mutation_p.R394H|TTC27_uc002ron.2_RNA	NM_017735	NP_060205	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	444	TPR 1.						protein binding			central_nervous_system(1)	1																		---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33360021	33360021	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33360021C>T	uc002ros.2	+	5	1195	c.1195C>T	c.(1195-1197)CGA>TGA	p.R399*	LTBP1_uc002rot.2_Nonsense_Mutation_p.R73*|LTBP1_uc002rou.2_Nonsense_Mutation_p.R73*|LTBP1_uc002rov.2_Nonsense_Mutation_p.R73*|LTBP1_uc010ymz.1_Nonsense_Mutation_p.R73*|LTBP1_uc010yna.1_Nonsense_Mutation_p.R73*	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	399	EGF-like 2.				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)																---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33572510	33572510	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:33572510C>T	uc002ros.2	+	26	3936	c.3936C>T	c.(3934-3936)TGC>TGT	p.C1312C	LTBP1_uc002rot.2_Silent_p.C986C|LTBP1_uc002rou.2_Silent_p.C985C|LTBP1_uc002rov.2_Silent_p.C932C|LTBP1_uc010ymz.1_Silent_p.C943C|LTBP1_uc010yna.1_Silent_p.C890C|LTBP1_uc010ynb.1_Silent_p.C209C	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding	1311	EGF-like 14; calcium-binding (Potential).				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)																---	---	---	---
STRN	6801	broad.mit.edu	37	2	37076597	37076597	+	3'UTR	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37076597C>T	uc002rpn.2	-	18					STRN_uc010ezx.2_3'UTR	NM_003162	NP_003153			striatin, calmodulin binding protein						dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			skin(1)	1		Ovarian(717;0.0129)|all_hematologic(82;0.21)																---	---	---	---
OXER1	165140	broad.mit.edu	37	2	42990174	42990174	+	Silent	SNP	G	A	A	rs145580414	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:42990174G>A	uc002rss.2	-	1	1228	c.1146C>T	c.(1144-1146)GAC>GAT	p.D382D		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	G-protein coupled receptor TG1019	382	Cytoplasmic (Potential).				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)	1																		---	---	---	---
ABCG5	64240	broad.mit.edu	37	2	44055164	44055164	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44055164G>A	uc002rtn.2	-	5	732	c.592C>T	c.(592-594)CGG>TGG	p.R198W	ABCG5_uc002rtm.2_5'UTR|ABCG5_uc002rto.2_Missense_Mutation_p.R117W|ABCG5_uc002rtp.2_5'UTR	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	198	ABC transporter.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			ovary(1)|skin(1)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
ABCG8	64241	broad.mit.edu	37	2	44079964	44079964	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44079964C>T	uc002rtq.2	+	6	1011	c.921C>T	c.(919-921)ATC>ATT	p.I307I	ABCG8_uc010yoa.1_Silent_p.I307I	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	ATP-binding cassette sub-family G member 8	307	ABC transporter.|Cytoplasmic (Potential).				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			skin(3)|ovary(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---
KLRAQ1	129285	broad.mit.edu	37	2	48685352	48685352	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48685352C>T	uc002rwm.2	+	4	546	c.361C>T	c.(361-363)CGG>TGG	p.R121W	KLRAQ1_uc002rwi.1_Missense_Mutation_p.R121W|KLRAQ1_uc002rwj.2_Missense_Mutation_p.R121W|KLRAQ1_uc002rwl.2_Missense_Mutation_p.R75W|KLRAQ1_uc002rwk.2_Missense_Mutation_p.R121W|KLRAQ1_uc010yok.1_Missense_Mutation_p.R121W	NM_001135629	NP_001129101	Q6ZMI0	KLRAQ_HUMAN	KLRAQ motif containing 1 isoform 1	121	Potential.									ovary(1)	1																		---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49217735	49217735	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:49217735T>C	uc002rww.2	-	5	490	c.416A>G	c.(415-417)CAC>CGC	p.H139R	FSHR_uc002rwx.2_Missense_Mutation_p.H139R|FSHR_uc010fbn.2_Missense_Mutation_p.H139R|FSHR_uc010fbo.1_RNA	NM_000145	NP_000136	P23945	FSHR_HUMAN	follicle stimulating hormone receptor isoform 1	139	Extracellular (Potential).|LRR 4.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)									Gonadal_Dysgenesis_46_XX				---	---	---	---
USP34	9736	broad.mit.edu	37	2	61447484	61447484	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61447484G>A	uc002sbe.2	-	67	8030	c.8008C>T	c.(8008-8010)CGG>TGG	p.R2670W		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2670					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---
USP34	9736	broad.mit.edu	37	2	61463296	61463296	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61463296C>A	uc002sbe.2	-	55	6940	c.6918G>T	c.(6916-6918)AAG>AAT	p.K2306N	USP34_uc002sbf.2_Missense_Mutation_p.K456N	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	2306					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---
USP34	9736	broad.mit.edu	37	2	61577479	61577479	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:61577479C>T	uc002sbe.2	-	12	1445	c.1423G>A	c.(1423-1425)GCA>ACA	p.A475T		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	ubiquitin specific protease 34	475					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19			Epithelial(17;0.229)															---	---	---	---
GFPT1	2673	broad.mit.edu	37	2	69590695	69590695	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:69590695G>A	uc002sfh.2	-	4	510	c.331C>T	c.(331-333)CGC>TGC	p.R111C		NM_002056	NP_002047	Q06210	GFPT1_HUMAN	glucosamine-fructose-6-phosphate	111	Glutamine amidotransferase type-2.		R -> C (in LGMTA).		dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			skin(1)	1																		---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71742778	71742778	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:71742778G>A	uc002sie.2	+	7	1065	c.689G>A	c.(688-690)CGC>CAC	p.R230H	DYSF_uc010feg.2_Missense_Mutation_p.R261H|DYSF_uc010feh.2_Missense_Mutation_p.R230H|DYSF_uc002sig.3_Missense_Mutation_p.R230H|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.R230H|DYSF_uc010fef.2_Missense_Mutation_p.R261H|DYSF_uc010fei.2_Missense_Mutation_p.R261H|DYSF_uc010fek.2_Missense_Mutation_p.R262H|DYSF_uc010fej.2_Missense_Mutation_p.R231H|DYSF_uc010fel.2_Missense_Mutation_p.R231H|DYSF_uc010feo.2_Missense_Mutation_p.R262H|DYSF_uc010fem.2_Missense_Mutation_p.R231H|DYSF_uc010fen.2_Missense_Mutation_p.R262H|DYSF_uc002sif.2_Missense_Mutation_p.R231H	NM_003494	NP_003485	O75923	DYSF_HUMAN	dysferlin isoform 8	230	Cytoplasmic (Potential).|C2 2.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			ovary(3)|breast(2)|pancreas(1)|skin(1)	7																		---	---	---	---
C2orf7	84279	broad.mit.edu	37	2	73456018	73456018	+	Silent	SNP	G	A	A	rs139145843	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73456018G>A	uc002siy.2	-	4	419	c.351C>T	c.(349-351)AAC>AAT	p.N117N		NM_032319	NP_115695	Q9BSG0	PADC1_HUMAN	chromosome 2 open reading frame 7 precursor	117	PA.					extracellular region					0																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73717195	73717195	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73717195G>A	uc002sje.1	+	12	8223	c.8112G>A	c.(8110-8112)CCG>CCA	p.P2704P	ALMS1_uc002sjf.1_Silent_p.P2660P|ALMS1_uc002sjg.2_Silent_p.P2090P|ALMS1_uc002sjh.1_Silent_p.P2090P	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2702					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																		---	---	---	---
ALMS1	7840	broad.mit.edu	37	2	73829423	73829423	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73829423C>T	uc002sje.1	+	22	12340	c.12229C>T	c.(12229-12231)CGG>TGG	p.R4077W	ALMS1_uc002sjf.1_Missense_Mutation_p.R4033W|ALMS1_uc002sjh.1_Missense_Mutation_p.R3463W	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4075					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																		---	---	---	---
STAMBP	10617	broad.mit.edu	37	2	74074539	74074539	+	Missense_Mutation	SNP	G	A	A	rs141275418	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74074539G>A	uc002sjs.2	+	5	451	c.401G>A	c.(400-402)CGG>CAG	p.R134Q	STAMBP_uc002sjt.2_Missense_Mutation_p.R134Q|STAMBP_uc002sju.2_Missense_Mutation_p.R134Q|STAMBP_uc002sjv.2_Missense_Mutation_p.R134Q	NM_201647	NP_964010	O95630	STABP_HUMAN	STAM binding protein	134	Glu-rich.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			ovary(1)|lung(1)|breast(1)|pancreas(1)	4																		---	---	---	---
CCDC142	84865	broad.mit.edu	37	2	74701736	74701736	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74701736T>C	uc002slr.2	-	9	2583	c.2190A>G	c.(2188-2190)CAA>CAG	p.Q730Q	MRPL53_uc002sln.2_5'Flank|CCDC142_uc002slo.2_Intron|CCDC142_uc002slq.2_Silent_p.Q723Q|CCDC142_uc002slp.2_3'UTR	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	730										central_nervous_system(1)	1																		---	---	---	---
HK2	3099	broad.mit.edu	37	2	75094895	75094895	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:75094895G>A	uc002snd.2	+	3	2285	c.359G>A	c.(358-360)CGA>CAA	p.R120Q		NM_000189	NP_000180	P52789	HXK2_HUMAN	hexokinase 2	120	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			ovary(1)|lung(1)	2																		---	---	---	---
POLE4	56655	broad.mit.edu	37	2	75187275	75187275	+	Splice_Site	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:75187275T>C	uc002snf.2	+	3	372	c.340_splice	c.e3+2	p.G114_splice		NM_019896	NP_063949			DNA-directed DNA polymerase epsilon 4						histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex	DNA-directed DNA polymerase activity|protein binding|sequence-specific DNA binding				0																		---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77746577	77746577	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:77746577G>T	uc002snr.2	-	3	833	c.418C>A	c.(418-420)CTC>ATC	p.L140I	LRRTM4_uc002snq.2_Missense_Mutation_p.L140I|LRRTM4_uc002sns.2_Missense_Mutation_p.L140I|LRRTM4_uc002snt.2_Missense_Mutation_p.L141I	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	140	LRR 4.|Extracellular (Potential).					integral to membrane				pancreas(3)|ovary(1)	4				Colorectal(11;0.059)														---	---	---	---
TCF7L1	83439	broad.mit.edu	37	2	85510676	85510676	+	Missense_Mutation	SNP	C	T	T	rs35802950		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85510676C>T	uc002soy.2	+	4	574	c.500C>T	c.(499-501)ACG>ATG	p.T167M		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	HMG-box transcription factor TCF-3	167	Pro-rich.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			lung(1)|breast(1)|central_nervous_system(1)	3																		---	---	---	---
ELMOD3	84173	broad.mit.edu	37	2	85604560	85604560	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85604560C>T	uc002spf.3	+	12	1366	c.701C>T	c.(700-702)GCG>GTG	p.A234V	ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Missense_Mutation_p.A234V|ELMOD3_uc002sph.3_Missense_Mutation_p.A234V|ELMOD3_uc010ysn.1_Missense_Mutation_p.A234V|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA	NM_001135021	NP_001128493	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3 isoform b	234	ELMO.				phagocytosis	cytoskeleton				ovary(2)	2																		---	---	---	---
USP39	10713	broad.mit.edu	37	2	85852703	85852703	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85852703C>T	uc002sqe.2	+	5	648	c.612C>T	c.(610-612)AAC>AAT	p.N204N	USP39_uc002sqb.2_5'UTR|USP39_uc010ysu.1_Silent_p.N126N|USP39_uc010ysv.1_Silent_p.N101N|USP39_uc010fgn.1_Silent_p.N204N|USP39_uc002sqf.2_Silent_p.N204N|USP39_uc002sqg.2_Silent_p.N204N|USP39_uc010fgo.2_Silent_p.N204N	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	ubiquitin specific protease 39	204					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)	1																		---	---	---	---
KDM3A	55818	broad.mit.edu	37	2	86705018	86705018	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:86705018G>A	uc002sri.3	+	13	2285	c.1958G>A	c.(1957-1959)CGA>CAA	p.R653Q	KDM3A_uc010ytj.1_Missense_Mutation_p.R653Q|KDM3A_uc010ytk.1_Missense_Mutation_p.R601Q	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	jumonji domain containing 1A	653					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
RGPD1	400966	broad.mit.edu	37	2	87141004	87141004	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:87141004A>T	uc010fgv.2	+	1	99	c.32A>T	c.(31-33)TAC>TTC	p.Y11F	RMND5A_uc002srs.3_Intron	NM_001024457	NP_001019628	Q68DN6	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 1	Error:Variant_position_missing_in_Q68DN6_after_alignment					intracellular transport		binding				0																		---	---	---	---
C2orf51	200523	broad.mit.edu	37	2	88828701	88828701	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88828701C>T	uc002stb.1	+	4	394	c.252C>T	c.(250-252)CCC>CCT	p.P84P		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	chromosome 2 open reading frame 51	84						nucleus				skin(1)	1																		---	---	---	---
C2orf51	200523	broad.mit.edu	37	2	88828929	88828929	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:88828929T>A	uc002stb.1	+	4	622	c.480T>A	c.(478-480)CAT>CAA	p.H160Q		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	chromosome 2 open reading frame 51	160						nucleus				skin(1)	1																		---	---	---	---
Unknown	0	broad.mit.edu	37	2	89417124	89417124	+	RNA	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:89417124G>T	uc010ytr.1	-	42		c.4478C>A			uc002stl.2_Intron					Parts of antibodies, mostly variable regions.																														---	---	---	---
TEKT4	150483	broad.mit.edu	37	2	95542359	95542359	+	Missense_Mutation	SNP	G	C	C	rs79870555	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95542359G>C	uc002stw.1	+	6	1246	c.1153G>C	c.(1153-1155)GAA>CAA	p.E385Q	uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	385	Potential.				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)|skin(1)	3																		---	---	---	---
FAHD2A	51011	broad.mit.edu	37	2	96072707	96072707	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96072707G>A	uc002sur.2	+	3	443	c.264G>A	c.(262-264)TTG>TTA	p.L88L	FAHD2A_uc002sus.2_Silent_p.L88L	NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing	88							hydrolase activity|metal ion binding			ovary(1)	1																		---	---	---	---
ADRA2B	151	broad.mit.edu	37	2	96781764	96781764	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:96781764G>A	uc002svi.2	-	1	125	c.125C>T	c.(124-126)TCG>TTG	p.S42L		NM_000682	NP_000673	P18089	ADA2B_HUMAN	alpha-2B-adrenergic receptor	42	Cytoplasmic (By similarity).				activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			ovary(2)|lung(1)	3					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)													---	---	---	---
CNNM3	26505	broad.mit.edu	37	2	97493617	97493617	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97493617T>C	uc002swy.2	+	4	1693	c.1669T>C	c.(1669-1671)TAC>CAC	p.Y557H	CNNM3_uc002swz.2_Missense_Mutation_p.Y509H	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN	cyclin M3 isoform 1	557					ion transport	integral to membrane|plasma membrane	protein binding			ovary(1)	1																		---	---	---	---
FAHD2B	151313	broad.mit.edu	37	2	97749482	97749482	+	3'UTR	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:97749482G>A	uc002sxm.2	-	8						NM_199336	NP_955368			fumarylacetoacetate hydrolase domain containing								hydrolase activity|metal ion binding				0																		---	---	---	---
ACTR1B	10120	broad.mit.edu	37	2	98274730	98274730	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98274730G>A	uc002syb.2	-	7	915	c.707C>T	c.(706-708)ACG>ATG	p.T236M		NM_005735	NP_005726	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B,	236						centrosome|dynactin complex	ATP binding|protein binding			skin(1)	1																		---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98409165	98409165	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98409165C>T	uc002syh.3	-	31	4057	c.3828G>A	c.(3826-3828)GCG>GCA	p.A1276A		NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1276						integral to membrane				ovary(4)|central_nervous_system(2)	6																		---	---	---	---
LYG1	129530	broad.mit.edu	37	2	99907721	99907721	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99907721G>A	uc002szy.2	-	5	562	c.312C>T	c.(310-312)GGC>GGT	p.G104G	MRPL30_uc002szl.1_Intron|LYG1_uc010yvo.1_Silent_p.G104G	NM_174898	NP_777558	Q8N1E2	LYG1_HUMAN	lysozyme g-like protein 1 precursor	104					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity				0																		---	---	---	---
AFF3	3899	broad.mit.edu	37	2	100167951	100167951	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:100167951G>A	uc002tag.2	-	24	3902	c.3666C>T	c.(3664-3666)AGC>AGT	p.S1222S	AFF3_uc002taf.2_Silent_p.S1247S	NM_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	1222					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.G1222>V(1)		ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6																		---	---	---	---
TBC1D8	11138	broad.mit.edu	37	2	101648754	101648754	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:101648754C>T	uc010fiv.2	-	11	1998	c.1867G>A	c.(1867-1869)GAT>AAT	p.D623N	TBC1D8_uc002tau.3_Missense_Mutation_p.D380N	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	TBC1 domain family, member 8	623	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			ovary(3)	3																		---	---	---	---
C2orf29	55571	broad.mit.edu	37	2	101881315	101881315	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:101881315C>T	uc002taw.3	+	4	923	c.841C>T	c.(841-843)CGA>TGA	p.R281*		NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN	hypothetical protein LOC55571	281					cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
SLC9A4	389015	broad.mit.edu	37	2	103149075	103149075	+	Silent	SNP	G	A	A	rs145203765		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103149075G>A	uc002tbz.3	+	12	2782	c.2325G>A	c.(2323-2325)TCG>TCA	p.S775S		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	solute carrier family 9 (sodium/hydrogen	775	Cytoplasmic (Potential).				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			skin(2)|central_nervous_system(1)	3																		---	---	---	---
TMEM182	130827	broad.mit.edu	37	2	103378794	103378794	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103378794T>C	uc010fjb.2	+	1	305	c.118T>C	c.(118-120)TCA>CCA	p.S40P	TMEM182_uc002tcc.3_Intron|TMEM182_uc002tcd.3_Intron	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	transmembrane protein 182 precursor	40	Extracellular (Potential).					integral to membrane					0																		---	---	---	---
GPR45	11250	broad.mit.edu	37	2	105859168	105859168	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:105859168G>A	uc002tco.1	+	1	969	c.853G>A	c.(853-855)GTC>ATC	p.V285I		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	285	Helical; Name=6; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.V285I(1)		ovary(1)|breast(1)|central_nervous_system(1)	3																		---	---	---	---
NCK2	8440	broad.mit.edu	37	2	106498310	106498310	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106498310C>T	uc002tdg.2	+	4	1195	c.753C>T	c.(751-753)TAC>TAT	p.Y251Y	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Silent_p.Y251Y	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	251	SH3 3.				axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation	cytosol|endoplasmic reticulum	cytoskeletal adaptor activity|receptor signaling complex scaffold activity			ovary(1)|lung(1)	2																		---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109371498G>A	uc002tem.3	+	16	2466	c.2340G>A	c.(2338-2340)CCG>CCA	p.P780P		NM_006267	NP_006258	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(16)	soft_tissue(16)|lung(1)|pancreas(1)	18																		---	---	---	---
EDAR	10913	broad.mit.edu	37	2	109547467	109547467	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:109547467C>T	uc002teq.3	-	2	435	c.4G>A	c.(4-6)GCC>ACC	p.A2T	EDAR_uc010fjn.2_Missense_Mutation_p.A2T|EDAR_uc010yws.1_Missense_Mutation_p.A2T	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor precursor	2					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			skin(1)	1																		---	---	---	---
ZC3H8	84524	broad.mit.edu	37	2	112994207	112994207	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:112994207G>A	uc002thp.2	-	4	542	c.436C>T	c.(436-438)CGA>TGA	p.R146*		NM_032494	NP_115883	Q8N5P1	ZC3H8_HUMAN	zinc finger CCCH-type containing 8	146					apoptosis|negative regulation of T cell differentiation in thymus|negative regulation of transcription, DNA-dependent|positive regulation of thymocyte apoptosis|response to antibiotic|T cell homeostasis	nucleus	RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
IL1RN	3557	broad.mit.edu	37	2	113890256	113890256	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113890256C>T	uc002tjb.2	+	4	406	c.342C>T	c.(340-342)AGC>AGT	p.S114S	IL1RN_uc002tix.1_RNA|IL1RN_uc002tiy.2_Silent_p.S80S|IL1RN_uc002tiz.2_Silent_p.S117S|IL1RN_uc002tja.2_Silent_p.S96S	NM_173842	NP_776214	P18510	IL1RA_HUMAN	interleukin 1 receptor antagonist isoform 1	114					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			skin(2)	2					Anakinra(DB00026)									Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				---	---	---	---
PTPN4	5775	broad.mit.edu	37	2	120643418	120643418	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120643418G>A	uc002tmf.1	+	9	1406	c.635G>A	c.(634-636)CGT>CAT	p.R212H	PTPN4_uc010flj.1_5'UTR	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	212	FERM.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)													---	---	---	---
GLI2	2736	broad.mit.edu	37	2	121732661	121732661	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121732661C>T	uc010flp.2	+	8	1374	c.1344C>T	c.(1342-1344)TAC>TAT	p.Y448Y	GLI2_uc002tmq.1_Silent_p.Y120Y|GLI2_uc002tmr.1_Silent_p.Y103Y|GLI2_uc002tmt.3_Silent_p.Y120Y|GLI2_uc002tmu.3_Silent_p.Y103Y|GLI2_uc010flo.1_Silent_p.Y306Y|GLI2_uc002tmw.1_Silent_p.Y431Y	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	448	C2H2-type 1.				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)																---	---	---	---
GLI2	2736	broad.mit.edu	37	2	121747789	121747789	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:121747789G>A	uc010flp.2	+	13	4329	c.4299G>A	c.(4297-4299)CCG>CCA	p.P1433P	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.3_Silent_p.P1105P|GLI2_uc002tmu.3_Silent_p.P1088P	NM_005270	NP_005261	P10070	GLI2_HUMAN	GLI-Kruppel family member GLI2	1433					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13	Renal(3;0.0496)	Prostate(154;0.0623)																---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125555832	125555832	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:125555832C>A	uc002tno.2	+	19	3513	c.3149C>A	c.(3148-3150)CCC>CAC	p.P1050H	CNTNAP5_uc010flu.2_Missense_Mutation_p.P1051H	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5 precursor	1050	Extracellular (Potential).|Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(10)	10				BRCA - Breast invasive adenocarcinoma(221;0.248)														---	---	---	---
PROC	5624	broad.mit.edu	37	2	128186358	128186358	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128186358G>T	uc002tok.2	+	9	1295	c.1222G>T	c.(1222-1224)GCC>TCC	p.A408S	PROC_uc002tol.2_Missense_Mutation_p.A429S|PROC_uc010yzi.1_Missense_Mutation_p.A464S|PROC_uc010yzj.1_Missense_Mutation_p.A303S|PROC_uc010yzk.1_Missense_Mutation_p.A463S|PROC_uc002tom.2_Missense_Mutation_p.A442S	NM_000312	NP_000303	P04070	PROC_HUMAN	protein C	408	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)													---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128480901	128480901	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128480901C>T	uc002tpg.1	-	12	1400	c.1217G>A	c.(1216-1218)CGA>CAA	p.R406Q		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	WD repeat domain 33 isoform 1	406	WD 7.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding				0	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)														---	---	---	---
AMMECR1L	83607	broad.mit.edu	37	2	128622774	128622774	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128622774C>T	uc002tpl.2	-	8	1078	c.827G>A	c.(826-828)CGA>CAA	p.R276Q	AMMECR1L_uc002tpm.2_Missense_Mutation_p.R276Q	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	AMME chromosomal region gene 1-like	276	AMMECR1.									central_nervous_system(1)	1	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)														---	---	---	---
CCDC74B	91409	broad.mit.edu	37	2	130898849	130898849	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:130898849C>T	uc002tqm.1	-	4	627	c.565G>A	c.(565-567)GGC>AGC	p.G189S	CCDC74B_uc010yzw.1_Missense_Mutation_p.G291S|CCDC74B_uc002tqn.1_Missense_Mutation_p.G123S	NM_207310	NP_997193	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	189											0	Colorectal(110;0.1)																	---	---	---	---
FAM128B	80097	broad.mit.edu	37	2	130948162	130948162	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:130948162G>A	uc002tqu.2	+	3	593	c.440G>A	c.(439-441)GGC>GAC	p.G147D		NM_025029	NP_079305	Q6NZ67	MZT2B_HUMAN	hypothetical protein LOC80097	147						centrosome|gamma-tubulin ring complex|spindle	protein binding				0	Colorectal(110;0.1)																	---	---	---	---
IMP4	92856	broad.mit.edu	37	2	131103164	131103164	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131103164G>A	uc002tra.1	+	5	348	c.331G>A	c.(331-333)GCC>ACC	p.A111T		NM_033416	NP_219484	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein,	111	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)	2	Colorectal(110;0.1)																	---	---	---	---
GPR148	344561	broad.mit.edu	37	2	131487749	131487749	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131487749C>T	uc002trv.1	+	1	1027	c.1025C>T	c.(1024-1026)GCC>GTC	p.A342V		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	342	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			skin(1)	1	Colorectal(110;0.1)																	---	---	---	---
FAM123C	205147	broad.mit.edu	37	2	131521709	131521709	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131521709C>T	uc002trw.2	+	2	2254	c.2064C>T	c.(2062-2064)AAC>AAT	p.N688N	FAM123C_uc010fmv.2_Silent_p.N688N|FAM123C_uc010fms.1_Silent_p.N688N|FAM123C_uc010fmt.1_Silent_p.N688N|FAM123C_uc010fmu.1_Silent_p.N688N	NM_152698	NP_689911	Q8N944	F123C_HUMAN	hypothetical protein LOC205147	688										pancreas(2)|ovary(1)	3	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)														---	---	---	---
POTEE	445582	broad.mit.edu	37	2	131976089	131976089	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131976089C>T	uc002tsn.2	+	1	166	c.114C>T	c.(112-114)AGC>AGT	p.S38S	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	38							ATP binding				0																		---	---	---	---
POTEE	445582	broad.mit.edu	37	2	131976377	131976377	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:131976377C>T	uc002tsn.2	+	1	454	c.402C>T	c.(400-402)CAC>CAT	p.H134H	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Translation_Start_Site|POTEE_uc002tsl.2_Translation_Start_Site	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	protein expressed in prostate, ovary, testis,	134							ATP binding				0																		---	---	---	---
THSD7B	80731	broad.mit.edu	37	2	138378257	138378257	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:138378257A>G	uc002tva.1	+	19	3673	c.3673A>G	c.(3673-3675)ACG>GCG	p.T1225A	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)														---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141680638	141680638	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141680638C>T	uc002tvj.1	-	21	4187	c.3215G>A	c.(3214-3216)CGC>CAC	p.R1072H	LRP1B_uc010fnl.1_Missense_Mutation_p.R254H	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	1072	Extracellular (Potential).|LDL-receptor class A 8.				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)											TSP Lung(27;0.18)			---	---	---	---
MBD5	55777	broad.mit.edu	37	2	149227408	149227408	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149227408C>T	uc002twm.3	+	9	2884	c.1896C>T	c.(1894-1896)CTC>CTT	p.L632L	MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Silent_p.L632L|MBD5_uc002twn.1_Silent_p.L73L	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	632						chromosome|nucleus	chromatin binding|DNA binding			skin(3)|ovary(2)	5				BRCA - Breast invasive adenocarcinoma(221;0.0569)														---	---	---	---
EPC2	26122	broad.mit.edu	37	2	149543879	149543879	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:149543879A>G	uc010zbt.1	+	14	2384	c.2357A>G	c.(2356-2358)AAC>AGC	p.N786S		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2	786					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				ovary(1)|breast(1)|pancreas(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0516)														---	---	---	---
LYPD6B	130576	broad.mit.edu	37	2	150061784	150061784	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:150061784G>A	uc002twv.1	+	4	496	c.95G>A	c.(94-96)CGC>CAC	p.R32H	LYPD6B_uc002tww.1_5'UTR|LYPD6B_uc002twx.1_5'UTR	NM_177964	NP_808879	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	8						anchored to membrane|plasma membrane					0																		---	---	---	---
RBM43	375287	broad.mit.edu	37	2	152108096	152108096	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152108096T>C	uc002txh.2	-	4	546	c.398A>G	c.(397-399)AAA>AGA	p.K133R		NM_198557	NP_940959	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	133							nucleotide binding|RNA binding				0				BRCA - Breast invasive adenocarcinoma(221;0.131)														---	---	---	---
NEB	4703	broad.mit.edu	37	2	152406166	152406166	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152406166C>T	uc010fnx.2	-	102	15121	c.14930G>A	c.(14929-14931)CGT>CAT	p.R4977H	NEB_uc002txr.2_Missense_Mutation_p.R1400H	NM_004543	NP_004534	P20929	NEBU_HUMAN	nebulin isoform 3	4977	Nebulin 136.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.219)														---	---	---	---
ARL5A	26225	broad.mit.edu	37	2	152670756	152670756	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:152670756C>T	uc002txx.1	-	3	501	c.182G>A	c.(181-183)CGT>CAT	p.R61H	ARL5A_uc010zcc.1_RNA|ARL5A_uc002txv.1_Missense_Mutation_p.R24H|ARL5A_uc002txw.1_Missense_Mutation_p.R24H	NM_012097	NP_036229	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A isoform 1	61					small GTPase mediated signal transduction	intracellular	GTP binding				0				BRCA - Breast invasive adenocarcinoma(221;0.153)														---	---	---	---
PRPF40A	55660	broad.mit.edu	37	2	153527837	153527837	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:153527837G>A	uc002tyh.3	-	14	1451	c.1429C>T	c.(1429-1431)CGT>TGT	p.R477C	PRPF40A_uc002tyg.3_5'Flank|PRPF40A_uc010zcd.1_Missense_Mutation_p.R424C	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	504	FF 2.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0																		---	---	---	---
PRPF40A	55660	broad.mit.edu	37	2	153529040	153529040	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:153529040C>A	uc002tyi.2	-	13	1397	c.1384G>T	c.(1384-1386)GAG>TAG	p.E462*	PRPF40A_uc002tyg.3_5'Flank|PRPF40A_uc002tyh.3_Nonsense_Mutation_p.E435*|PRPF40A_uc010zcd.1_Nonsense_Mutation_p.E382*|PRPF40A_uc002tyj.2_Nonsense_Mutation_p.E331*	NM_017892	NP_060362	O75400	PR40A_HUMAN	formin binding protein 3	462	FF 2.				mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding				0																		---	---	---	---
KCNJ3	3760	broad.mit.edu	37	2	155711597	155711597	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:155711597A>G	uc002tyv.1	+	3	1473	c.1278A>G	c.(1276-1278)AAA>AAG	p.K426K	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	426	Cytoplasmic (By similarity).				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			upper_aerodigestive_tract(1)|pancreas(1)	2					Halothane(DB01159)													---	---	---	---
GALNT5	11227	broad.mit.edu	37	2	158114723	158114723	+	Silent	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158114723G>T	uc002tzg.2	+	1	384	c.129G>T	c.(127-129)CGG>CGT	p.R43R	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	43	Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4																		---	---	---	---
ACVR1C	130399	broad.mit.edu	37	2	158485127	158485127	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158485127G>A	uc002tzk.3	-	1	273	c.30C>T	c.(28-30)CGC>CGT	p.R10R	ACVR1C_uc002tzl.3_Silent_p.R10R|ACVR1C_uc010fof.2_Silent_p.R10R	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1	10					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7																		---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159481645	159481645	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:159481645C>T	uc002tzv.2	+	7	1119	c.859C>T	c.(859-861)CGG>TGG	p.R287W	PKP4_uc002tzt.1_Missense_Mutation_p.R139W|PKP4_uc002tzu.2_Missense_Mutation_p.R287W|PKP4_uc002tzw.2_Missense_Mutation_p.R287W|PKP4_uc002tzx.2_5'UTR|PKP4_uc002tzy.1_5'UTR|PKP4_uc002tzz.1_Missense_Mutation_p.R285W|PKP4_uc002uaa.2_Missense_Mutation_p.R139W	NM_003628	NP_003619	Q99569	PKP4_HUMAN	plakophilin 4 isoform a	287					cell adhesion	desmosome	protein binding			ovary(5)|skin(2)	7															HNSCC(62;0.18)			---	---	---	---
DAPL1	92196	broad.mit.edu	37	2	159663638	159663638	+	Intron	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:159663638G>T	uc002uaf.2	+							NM_001017920	NP_001017920			death associated protein-like 1						apoptosis|cell differentiation						0																		---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160229665	160229665	+	Silent	SNP	C	T	T	rs139267542	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160229665C>T	uc002uao.2	-	27	4456	c.4104G>A	c.(4102-4104)GCG>GCA	p.A1368A	BAZ2B_uc002uap.2_Silent_p.A1332A	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1368	Potential.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			ovary(3)|skin(1)	4																		---	---	---	---
MARCH7	64844	broad.mit.edu	37	2	160599719	160599719	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:160599719A>G	uc002uax.2	+	3	423	c.301A>G	c.(301-303)ACC>GCC	p.T101A	MARCH7_uc010foq.2_Missense_Mutation_p.T101A|MARCH7_uc010zcn.1_Missense_Mutation_p.T101A|MARCH7_uc010for.2_Missense_Mutation_p.T63A	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	axotrophin	101	Ser-rich.						ligase activity|zinc ion binding				0																		---	---	---	---
FIGN	55137	broad.mit.edu	37	2	164467078	164467078	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:164467078A>G	uc002uck.1	-	3	1575	c.1264T>C	c.(1264-1266)TAC>CAC	p.Y422H		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	fidgetin	422						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			large_intestine(2)|ovary(1)|skin(1)	4																		---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165579007	165579007	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165579007T>C	uc010zcw.1	-	8	1009	c.885A>G	c.(883-885)CTA>CTG	p.L295L	COBLL1_uc002ucp.2_Silent_p.L229L|COBLL1_uc002ucq.2_Silent_p.L229L|COBLL1_uc010zcx.1_Silent_p.L275L|COBLL1_uc002ucs.1_RNA|COBLL1_uc002uco.2_5'UTR	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	COBL-like 1	267										ovary(2)|pancreas(1)	3																		---	---	---	---
COBLL1	22837	broad.mit.edu	37	2	165600191	165600191	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165600191G>A	uc010zcw.1	-						COBLL1_uc002ucp.2_Intron|COBLL1_uc002ucq.2_Intron|COBLL1_uc010zcx.1_Intron|COBLL1_uc002ucs.1_Intron|COBLL1_uc002uct.2_Missense_Mutation_p.A79V	NM_014900	NP_055715			COBL-like 1											ovary(2)|pancreas(1)	3																		---	---	---	---
SCN3A	6328	broad.mit.edu	37	2	165946973	165946973	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165946973C>T	uc002ucx.2	-	28	6182	c.5690G>A	c.(5689-5691)CGT>CAT	p.R1897H	SCN3A_uc010zcy.1_Missense_Mutation_p.R380H|SCN3A_uc002ucy.2_Missense_Mutation_p.R1848H|SCN3A_uc002ucz.2_Missense_Mutation_p.R1848H	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1897						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)													---	---	---	---
SCN9A	6335	broad.mit.edu	37	2	167128940	167128940	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:167128940C>T	uc010fpl.2	-	17	3628	c.3287G>A	c.(3286-3288)AGC>AAC	p.S1096N	uc002udp.2_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha	1107						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(6)|central_nervous_system(5)|skin(2)	13					Lamotrigine(DB00555)|Lidocaine(DB00281)													---	---	---	---
LASS6	253782	broad.mit.edu	37	2	169571639	169571639	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169571639G>T	uc002ueb.1	+	7	862	c.738G>T	c.(736-738)GAG>GAT	p.E246D	LASS6_uc002uec.1_Missense_Mutation_p.E246D	NM_203463	NP_982288	Q6ZMG9	CERS6_HUMAN	longevity assurance homolog 6	246	Cytoplasmic (Potential).|TLC.					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			skin(1)	1																		---	---	---	---
ABCB11	8647	broad.mit.edu	37	2	169826024	169826024	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:169826024C>T	uc002ueo.1	-	16	1973	c.1847G>A	c.(1846-1848)CGC>CAC	p.R616H	ABCB11_uc010zda.1_Missense_Mutation_p.R58H|ABCB11_uc010zdb.1_Missense_Mutation_p.R92H	NM_003742	NP_003733	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP),	616	Cytoplasmic (Potential).|ABC transporter 1.		R -> G.		bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			ovary(2)|large_intestine(2)|breast(1)	5					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)													---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170062856	170062856	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170062856T>C	uc002ues.2	-	39	7587	c.7374A>G	c.(7372-7374)CCA>CCG	p.P2458P		NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	2458	LDL-receptor class B 25.|Extracellular (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)													---	---	---	---
DYNC1I2	1781	broad.mit.edu	37	2	172584891	172584891	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:172584891T>A	uc002uha.1	+	13	1385	c.1220T>A	c.(1219-1221)ATT>AAT	p.I407N	DYNC1I2_uc002uhc.2_Missense_Mutation_p.I381N|DYNC1I2_uc002uhb.1_Missense_Mutation_p.I381N|DYNC1I2_uc010zds.1_Missense_Mutation_p.I399N|DYNC1I2_uc002uhe.1_Missense_Mutation_p.I407N|DYNC1I2_uc002uhf.1_Missense_Mutation_p.I381N|DYNC1I2_uc010zdt.1_Missense_Mutation_p.I399N|DYNC1I2_uc002uhg.1_Missense_Mutation_p.I322N|DYNC1I2_uc010zdu.1_Missense_Mutation_p.I130N	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	407	WD 3.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.198)															---	---	---	---
MAP1D	254042	broad.mit.edu	37	2	172926348	172926348	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:172926348C>T	uc002uhk.2	+	2	236	c.163C>T	c.(163-165)CCG>TCG	p.P55S	MAP1D_uc010zdw.1_5'UTR	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	methionine aminopeptidase 1D precursor	55					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity				0			OV - Ovarian serous cystadenocarcinoma(117;0.216)															---	---	---	---
CHN1	1123	broad.mit.edu	37	2	175742756	175742756	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:175742756A>C	uc002uji.2	-	6	891	c.361T>G	c.(361-363)TTG>GTG	p.L121V	CHN1_uc010zeq.1_Missense_Mutation_p.L121V|CHN1_uc002ujj.2_Intron	NM_001822	NP_001813	P15882	CHIN_HUMAN	chimerin (chimaerin) 1 isoform a	121	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.226)					T	TAF15	extraskeletal myxoid chondrosarcoma								---	---	---	---
ATP5G3	518	broad.mit.edu	37	2	176043783	176043783	+	Splice_Site	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:176043783A>G	uc002ujz.3	-	3	584	c.314_splice	c.e3+1	p.R105_splice	ATP5G3_uc002uka.3_Splice_Site_p.R105_splice|ATP5G3_uc002ukb.1_Nonstop_Mutation_p.*106Q	NM_001002258	NP_001002258			ATP synthase, H+ transporting, mitochondrial F0						ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding|protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(117;0.147)															---	---	---	---
PLEKHA3	65977	broad.mit.edu	37	2	179368490	179368490	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179368490C>A	uc002umn.2	+	8	1177	c.779C>A	c.(778-780)CCT>CAT	p.P260H		NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A	260						cytoplasm|membrane				ovary(1)|kidney(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179408004	179408004	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179408004G>C	uc010zfg.1	-	296	89216	c.88992C>G	c.(88990-88992)AGC>AGG	p.S29664R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S23359R|TTN_uc010zfi.1_Missense_Mutation_p.S23292R|TTN_uc010zfj.1_Missense_Mutation_p.S23167R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	30591							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)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179436698	179436698	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179436698G>A	uc010zfg.1	-	275	66681	c.66457C>T	c.(66457-66459)CTG>TTG	p.L22153L	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L15848L|TTN_uc010zfi.1_Silent_p.L15781L|TTN_uc010zfj.1_Silent_p.L15656L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23080							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)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179458949	179458949	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179458949C>T	uc010zfg.1	-	246	50691	c.50467G>A	c.(50467-50469)GAC>AAC	p.D16823N	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D10518N|TTN_uc010zfi.1_Missense_Mutation_p.D10451N|TTN_uc010zfj.1_Missense_Mutation_p.D10326N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	17750							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)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179472320	179472320	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179472320G>A	uc010zfg.1	-	226	45615	c.45391C>T	c.(45391-45393)CGC>TGC	p.R15131C	uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R8826C|TTN_uc010zfi.1_Missense_Mutation_p.R8759C|TTN_uc010zfj.1_Missense_Mutation_p.R8634C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	16058							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R8634C(1)|p.R15131C(1)		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)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179480114	179480114	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179480114G>A	uc010zfg.1	-	208	41078	c.40854C>T	c.(40852-40854)CGC>CGT	p.R13618R	TTN_uc010zfh.1_Silent_p.R7313R|TTN_uc010zfi.1_Silent_p.R7246R|TTN_uc010zfj.1_Silent_p.R7121R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14545							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)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179480434	179480434	+	Missense_Mutation	SNP	G	A	A	rs2303830	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179480434G>A	uc010zfg.1	-	207	40914	c.40690C>T	c.(40690-40692)CGT>TGT	p.R13564C	TTN_uc010zfh.1_Missense_Mutation_p.R7259C|TTN_uc010zfi.1_Missense_Mutation_p.R7192C|TTN_uc010zfj.1_Missense_Mutation_p.R7067C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	14491							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)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179500910	179500910	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179500910C>T	uc010zfg.1	-	175	33908	c.33684G>A	c.(33682-33684)CAG>CAA	p.Q11228Q	TTN_uc010zfh.1_Silent_p.Q4923Q|TTN_uc010zfi.1_Silent_p.Q4856Q|TTN_uc010zfj.1_Silent_p.Q4731Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	12155							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)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179641444	179641444	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179641444C>T	uc010zfg.1	-	28	5371	c.5147G>A	c.(5146-5148)CGC>CAC	p.R1716H	TTN_uc010zfh.1_Missense_Mutation_p.R1670H|TTN_uc010zfi.1_Missense_Mutation_p.R1670H|TTN_uc010zfj.1_Missense_Mutation_p.R1670H|TTN_uc002unb.2_Missense_Mutation_p.R1716H|uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1716							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)															---	---	---	---
TTN	7273	broad.mit.edu	37	2	179645962	179645962	+	Missense_Mutation	SNP	C	T	T	rs72647870	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179645962C>T	uc010zfg.1	-	21	3633	c.3409G>A	c.(3409-3411)GGT>AGT	p.G1137S	TTN_uc010zfh.1_Missense_Mutation_p.G1091S|TTN_uc010zfi.1_Missense_Mutation_p.G1091S|TTN_uc010zfj.1_Missense_Mutation_p.G1091S|TTN_uc002unb.2_Missense_Mutation_p.G1137S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1137							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)															---	---	---	---
CWC22	57703	broad.mit.edu	37	2	180851432	180851432	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:180851432T>G	uc010frh.1	-	4	496	c.196A>C	c.(196-198)ATG>CTG	p.M66L	CWC22_uc002unp.2_Missense_Mutation_p.M66L	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog	66	Arg-rich.					catalytic step 2 spliceosome	protein binding|RNA binding				0																		---	---	---	---
NCKAP1	10787	broad.mit.edu	37	2	183853877	183853877	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:183853877G>A	uc002upc.2	-	9	1230	c.828C>T	c.(826-828)GAC>GAT	p.D276D	NCKAP1_uc002upb.2_Silent_p.D282D	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1 isoform 1	276					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)															---	---	---	---
Unknown	0	broad.mit.edu	37	2	186673680	186673680	+	Intron	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:186673680A>G	uc002upm.2	+						uc010zfu.1_Silent_p.Q1047Q					Homo sapiens cDNA FLJ44048 fis, clone TESTI4030669.																														---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189875587	189875587	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189875587A>G	uc002uqj.1	+	50	4342	c.4225A>G	c.(4225-4227)ACC>GCC	p.T1409A		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	1409	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)													---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189876400	189876400	+	Missense_Mutation	SNP	G	A	A	rs138533702		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189876400G>A	uc002uqj.1	+	51	4418	c.4301G>A	c.(4300-4302)CGC>CAC	p.R1434H		NM_000090	NP_000081	P02461	CO3A1_HUMAN	collagen type III alpha 1 preproprotein	1434	Fibrillar collagen NC1.		R -> C (in a colorectal cancer sample; somatic mutation).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.R1434C(1)		central_nervous_system(7)|ovary(4)|large_intestine(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)													---	---	---	---
PMS1	5378	broad.mit.edu	37	2	190742022	190742022	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190742022C>G	uc002urh.3	+	13	3188	c.2659C>G	c.(2659-2661)CAA>GAA	p.Q887E	PMS1_uc002urk.3_Missense_Mutation_p.Q848E|PMS1_uc002uri.3_Missense_Mutation_p.Q725E|PMS1_uc010zgc.1_Missense_Mutation_p.Q711E|PMS1_uc010zgd.1_Missense_Mutation_p.Q711E|PMS1_uc002urj.2_RNA|PMS1_uc010frz.2_Missense_Mutation_p.Q203E|PMS1_uc002url.2_Missense_Mutation_p.Q510E|PMS1_uc002urm.2_RNA	NM_000534	NP_000525	P54277	PMS1_HUMAN	postmeiotic segregation 1 isoform a	887					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			ovary(2)|kidney(1)|central_nervous_system(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)					Mis|N			colorectal|endometrial|ovarian		Direct_reversal_of_damage|MMR					---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196602680	196602680	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196602680G>C	uc002utj.3	-	65	12141	c.12040C>G	c.(12040-12042)CGA>GGA	p.R4014G	DNAH7_uc002uti.3_Missense_Mutation_p.R497G	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	4014					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196834720	196834720	+	Silent	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196834720T>A	uc002utj.3	-	17	2258	c.2157A>T	c.(2155-2157)CTA>CTT	p.L719L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	719	Stem (By similarity).|Potential.				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196922786	196922786	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196922786G>A	uc002utj.3	-	2	171	c.70C>T	c.(70-72)CTG>TTG	p.L24L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	24	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---
PGAP1	80055	broad.mit.edu	37	2	197784835	197784835	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197784835C>T	uc002utw.2	-	2	301	c.187G>A	c.(187-189)GCA>ACA	p.A63T	PGAP1_uc002utx.2_5'UTR|PGAP1_uc002uty.1_Missense_Mutation_p.A63T|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_5'UTR	NM_024989	NP_079265	Q75T13	PGAP1_HUMAN	GPI deacylase	63	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			ovary(3)|central_nervous_system(1)	4																		---	---	---	---
SF3B1	23451	broad.mit.edu	37	2	198260814	198260814	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198260814C>T	uc002uue.2	-	23	3553	c.3505G>A	c.(3505-3507)GTA>ATA	p.V1169I		NM_012433	NP_036565	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1 isoform 1	1169	HEAT 11.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			pancreas(3)|ovary(1)|breast(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(117;0.246)															---	---	---	---
MARS2	92935	broad.mit.edu	37	2	198571363	198571363	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:198571363G>A	uc002uuq.2	+	1	1277	c.1234G>A	c.(1234-1236)GCC>ACC	p.A412T	uc002uup.2_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	methionine-tRNA synthetase 2 precursor	412					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			ovary(1)|central_nervous_system(1)|skin(1)	3					L-Methionine(DB00134)													---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200137067	200137067	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:200137067T>A	uc002uuy.1	-	11	2886	c.2069A>T	c.(2068-2070)AAG>ATG	p.K690M	SATB2_uc010fsq.1_Missense_Mutation_p.K572M|SATB2_uc002uuz.1_Missense_Mutation_p.K690M|SATB2_uc002uva.1_Missense_Mutation_p.K690M	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	690						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			ovary(1)	1																		---	---	---	---
C2orf60	129450	broad.mit.edu	37	2	200804837	200804837	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:200804837C>T	uc002uvi.3	-	4	589	c.323G>A	c.(322-324)CGG>CAG	p.R108Q	C2orf60_uc002uvj.3_5'UTR|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_5'UTR	NM_001039693	NP_001034782	A2RUC4	TYW5_HUMAN	hypothetical protein LOC129450	108	JmjC.			R->A: Abolishes enzyme activity and ability to bind tRNA.	wybutosine biosynthetic process		iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding				0																		---	---	---	---
KCTD18	130535	broad.mit.edu	37	2	201362468	201362468	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201362468C>T	uc002uvs.2	-						KCTD18_uc002uvt.2_Intron|KCTD18_uc002uvu.1_Silent_p.V223V	NM_152387	NP_689600			potassium channel tetramerization domain							voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---
AOX1	316	broad.mit.edu	37	2	201505841	201505841	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201505841C>T	uc002uvx.2	+	24	2690	c.2589C>T	c.(2587-2589)GGC>GGT	p.G863G	AOX1_uc010zhf.1_Silent_p.G419G|AOX1_uc010fsu.2_Silent_p.G229G	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	863					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)													---	---	---	---
MPP4	58538	broad.mit.edu	37	2	202549797	202549797	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202549797C>T	uc002uyk.3	-	7	772	c.564G>A	c.(562-564)GCG>GCA	p.A188A	MPP4_uc010ftj.2_Silent_p.A188A|MPP4_uc010zhq.1_Silent_p.A188A|MPP4_uc010zhr.1_Silent_p.A188A|MPP4_uc010zhs.1_Silent_p.A144A|MPP4_uc002uyj.3_Silent_p.A144A|MPP4_uc010zht.1_Silent_p.A161A|MPP4_uc002uyl.3_RNA|MPP4_uc010ftk.2_Silent_p.A188A|MPP4_uc002uym.1_Silent_p.A157A|MPP4_uc002uyn.2_Silent_p.A144A	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4	188	PDZ.					cytoplasm	protein binding				0																		---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202574690	202574690	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202574690G>A	uc002uyo.2	-	27	4550	c.4194C>T	c.(4192-4194)TAC>TAT	p.Y1398Y	ALS2_uc010ftl.2_RNA	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	alsin isoform 1	1398					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			skin(5)|lung(1)|breast(1)	7																		---	---	---	---
FAM117B	150864	broad.mit.edu	37	2	203622081	203622081	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:203622081C>T	uc010zhx.1	+	6	1260	c.1250C>T	c.(1249-1251)TCG>TTG	p.S417L		NM_173511	NP_775782	Q6P1L5	F117B_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	417										ovary(1)	1																		---	---	---	---
CREB1	1385	broad.mit.edu	37	2	208440098	208440098	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:208440098C>T	uc002vcc.2	+	7	901	c.650C>T	c.(649-651)CCG>CTG	p.P217L	CREB1_uc010ziz.1_Missense_Mutation_p.P201L|CREB1_uc002vcd.2_Missense_Mutation_p.P203L|CREB1_uc010zja.1_RNA	NM_134442	NP_604391	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	217					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(42)	soft_tissue(42)|breast(1)|central_nervous_system(1)	44				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)			T	EWSR1	clear cell sarcoma|angiomatoid fibrous histiocytoma								---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209136339	209136339	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209136339T>C	uc002vcz.2	+	2	254	c.96T>C	c.(94-96)CCT>CCC	p.P32P	PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Silent_p.P32P|PIKFYVE_uc002vcv.2_Silent_p.P32P|PIKFYVE_uc002vcw.2_Silent_p.P32P|PIKFYVE_uc002vcx.2_Silent_p.P32P	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	32					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10																		---	---	---	---
MAP2	4133	broad.mit.edu	37	2	210595034	210595034	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:210595034G>A	uc002vde.1	+	15	5645	c.5397G>A	c.(5395-5397)TCG>TCA	p.S1799S	MAP2_uc002vdd.1_Silent_p.S531S|MAP2_uc002vdf.1_Silent_p.S474S|MAP2_uc002vdg.1_Silent_p.S443S|MAP2_uc002vdh.1_Silent_p.S500S|MAP2_uc002vdi.1_Silent_p.S1795S	NM_002374	NP_002365	P11137	MAP2_HUMAN	microtubule-associated protein 2 isoform 1	1799					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1)	17		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)													---	---	---	---
CPS1	1373	broad.mit.edu	37	2	211503950	211503950	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:211503950G>A	uc002vee.3	+						CPS1_uc010fur.2_Intron|CPS1_uc010fus.2_Intron	NM_001875	NP_001866			carbamoyl-phosphate synthetase 1 isoform b						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			ovary(8)|central_nervous_system(3)|breast(1)|skin(1)	13				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)														---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	214354767	214354767	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:214354767C>T	uc002veq.2	+	10	1115	c.1023C>T	c.(1021-1023)GAC>GAT	p.D341D	SPAG16_uc010fuz.1_Silent_p.D192D|SPAG16_uc002ver.2_Silent_p.D287D|SPAG16_uc010zjk.1_Silent_p.D247D	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	341					cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)														---	---	---	---
SPAG16	79582	broad.mit.edu	37	2	214878683	214878683	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:214878683G>A	uc002veq.2	+	13	1501	c.1409G>A	c.(1408-1410)TGC>TAC	p.C470Y	SPAG16_uc010fuz.1_Missense_Mutation_p.C321Y|SPAG16_uc002ver.2_Missense_Mutation_p.C416Y|SPAG16_uc010zjk.1_Missense_Mutation_p.C376Y	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16 isoform 1	470	WD 3.				cilium assembly	cilium axoneme|flagellar axoneme				ovary(1)|skin(1)	2		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)														---	---	---	---
FN1	2335	broad.mit.edu	37	2	216272844	216272844	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216272844C>T	uc002vfa.2	-	17	2771	c.2505G>A	c.(2503-2505)CAG>CAA	p.Q835Q	FN1_uc002vfb.2_Silent_p.Q835Q|FN1_uc002vfc.2_Silent_p.Q835Q|FN1_uc002vfd.2_Silent_p.Q835Q|FN1_uc002vfe.2_Silent_p.Q835Q|FN1_uc002vff.2_Silent_p.Q835Q|FN1_uc002vfg.2_Silent_p.Q835Q|FN1_uc002vfh.2_Silent_p.Q835Q|FN1_uc002vfi.2_Silent_p.Q835Q|FN1_uc002vfj.2_Silent_p.Q835Q	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	835	Fibronectin type-III 3.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216293030	216293030	+	Silent	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216293030G>T	uc002vfa.2	-	6	983	c.717C>A	c.(715-717)TCC>TCA	p.S239S	FN1_uc002vfb.2_Silent_p.S239S|FN1_uc002vfc.2_Silent_p.S239S|FN1_uc002vfd.2_Silent_p.S239S|FN1_uc002vfe.2_Silent_p.S239S|FN1_uc002vff.2_Silent_p.S239S|FN1_uc002vfg.2_Silent_p.S239S|FN1_uc002vfh.2_Silent_p.S239S|FN1_uc002vfi.2_Silent_p.S239S|FN1_uc002vfj.2_Silent_p.S239S|FN1_uc002vfl.2_Silent_p.S239S	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	239	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
FN1	2335	broad.mit.edu	37	2	216300396	216300396	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:216300396C>T	uc002vfa.2	-	1	396	c.130G>A	c.(130-132)GCT>ACT	p.A44T	FN1_uc002vfb.2_Missense_Mutation_p.A44T|FN1_uc002vfc.2_Missense_Mutation_p.A44T|FN1_uc002vfd.2_Missense_Mutation_p.A44T|FN1_uc002vfe.2_Missense_Mutation_p.A44T|FN1_uc002vff.2_Missense_Mutation_p.A44T|FN1_uc002vfg.2_Missense_Mutation_p.A44T|FN1_uc002vfh.2_Missense_Mutation_p.A44T|FN1_uc002vfi.2_Missense_Mutation_p.A44T|FN1_uc002vfj.2_Missense_Mutation_p.A44T|FN1_uc002vfl.2_Missense_Mutation_p.A44T	NM_212482	NP_997647	P02751	FINC_HUMAN	fibronectin 1 isoform 1 preproprotein	44					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding			central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)													---	---	---	---
TNS1	7145	broad.mit.edu	37	2	218749845	218749845	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:218749845C>T	uc002vgt.2	-	14	1182	c.784G>A	c.(784-786)GTC>ATC	p.V262I	TNS1_uc002vgr.2_Missense_Mutation_p.V262I|TNS1_uc002vgs.2_Missense_Mutation_p.V262I|TNS1_uc010zjv.1_Missense_Mutation_p.V262I|TNS1_uc010fvj.1_Missense_Mutation_p.V330I|TNS1_uc010fvk.1_Missense_Mutation_p.V387I|TNS1_uc002vgu.3_Missense_Mutation_p.V293I|TNS1_uc010fvi.1_5'UTR	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	tensin	262	C2 tensin-type.					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)														---	---	---	---
VIL1	7429	broad.mit.edu	37	2	219294217	219294217	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219294217G>A	uc002via.2	+						VIL1_uc010zke.1_Intron|VIL1_uc002vib.2_Intron|VIL1_uc002vic.1_Intron	NM_007127	NP_009058			villin 1						actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			ovary(1)	1		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
BCS1L	617	broad.mit.edu	37	2	219525928	219525928	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219525928G>A	uc002vio.2	+	2	636	c.218G>A	c.(217-219)CGT>CAT	p.R73H	ZNF142_uc002vin.2_5'Flank|ZNF142_uc010fvt.2_5'Flank|ZNF142_uc002vim.2_5'Flank|BCS1L_uc002vip.2_Missense_Mutation_p.R73H|BCS1L_uc002viq.2_Missense_Mutation_p.R73H|BCS1L_uc010fvu.2_Missense_Mutation_p.R73H|BCS1L_uc010fvv.2_Missense_Mutation_p.R73H|BCS1L_uc002vir.2_Missense_Mutation_p.R73H|BCS1L_uc002vis.2_Missense_Mutation_p.R73H	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	BCS1-like	73	Mitochondrial matrix (Potential).		R -> C (in MT-C3D).		mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding				0		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
PRKAG3	53632	broad.mit.edu	37	2	219695073	219695073	+	Silent	SNP	G	A	A	rs150179249		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219695073G>A	uc002vjb.1	-	4	280	c.261C>T	c.(259-261)ACC>ACT	p.T87T	PRKAG3_uc010zkn.1_RNA|PRKAG3_uc010fvy.1_Silent_p.T87T|PRKAG3_uc010zko.1_Silent_p.T83T	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	AMP-activated protein kinase, non-catalytic	87					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			ovary(1)|lung(1)	2		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
WNT10A	80326	broad.mit.edu	37	2	219746978	219746978	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:219746978G>T	uc002vjd.1	+	2	672	c.209G>T	c.(208-210)CGG>CTG	p.R70L		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family,	70					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			lung(1)|skin(1)	2		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---
SPEG	10290	broad.mit.edu	37	2	220343908	220343908	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220343908C>T	uc010fwg.2	+	23	5070	c.5070C>T	c.(5068-5070)ACC>ACT	p.T1690T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	1690	Protein kinase 1.				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)														---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220499298	220499298	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220499298G>A	uc002vmp.3	+	12	1987	c.1718G>A	c.(1717-1719)CGC>CAC	p.R573H	SLC4A3_uc002vmo.3_Missense_Mutation_p.R600H|SLC4A3_uc010fwm.2_Missense_Mutation_p.R123H|SLC4A3_uc010fwn.1_Missense_Mutation_p.R82H	NM_005070	NP_005061	P48751	B3A3_HUMAN	solute carrier family 4, anion exchanger, member	573	Cytoplasmic.				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)														---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220499334	220499334	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220499334G>A	uc002vmp.3	+						SLC4A3_uc002vmo.3_Intron|SLC4A3_uc010fwm.2_Intron|SLC4A3_uc010fwn.1_Intron	NM_005070	NP_005061			solute carrier family 4, anion exchanger, member						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)														---	---	---	---
SCG2	7857	broad.mit.edu	37	2	224463151	224463151	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:224463151G>A	uc002vnm.2	-	2	983	c.850C>T	c.(850-852)CGC>TGC	p.R284C		NM_003469	NP_003460	P13521	SCG2_HUMAN	secretogranin II precursor	284					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			ovary(1)	1		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)														---	---	---	---
WDFY1	57590	broad.mit.edu	37	2	224766056	224766056	+	Intron	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:224766056G>T	uc002vnq.2	-							NM_020830	NP_065881			WD repeat and FYVE domain containing 1							cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			lung(1)	1		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)														---	---	---	---
AGFG1	3267	broad.mit.edu	37	2	228398258	228398258	+	Intron	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:228398258G>T	uc002vpc.2	+						AGFG1_uc002vpd.2_Intron|AGFG1_uc002vpe.2_Intron|AGFG1_uc002vpf.2_Intron	NM_004504	NP_004495			HIV-1 Rev binding protein isoform 2						cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230633979	230633979	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230633979G>A	uc002vpw.1	-	39	5755	c.5646C>T	c.(5644-5646)TGC>TGT	p.C1882C	TRIP12_uc002vpx.1_Silent_p.C1930C|TRIP12_uc002vpy.1_Silent_p.C1612C	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1882					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)														---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230663994	230663994	+	Intron	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230663994G>T	uc002vpw.1	-						TRIP12_uc002vpx.1_Intron|TRIP12_uc002vpy.1_Intron|TRIP12_uc010zlz.1_Intron	NM_004238	NP_004229			thyroid hormone receptor interactor 12						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)														---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230672494	230672494	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:230672494G>A	uc002vpw.1	-	16	2391	c.2282C>T	c.(2281-2283)GCG>GTG	p.A761V	TRIP12_uc002vpx.1_Missense_Mutation_p.A809V|TRIP12_uc002vpy.1_Missense_Mutation_p.A464V|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.A767V	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	761	WWE.				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)														---	---	---	---
SP140	11262	broad.mit.edu	37	2	231134660	231134660	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231134660G>A	uc002vql.2	+	14	1551	c.1436G>A	c.(1435-1437)GGC>GAC	p.G479D	SP140_uc010zma.1_RNA|SP140_uc002vqn.2_Missense_Mutation_p.G365D|SP140_uc002vqm.2_Missense_Mutation_p.G419D|SP140_uc010fxl.2_Missense_Mutation_p.G452D	NM_007237	NP_009168	Q13342	LY10_HUMAN	SP140 nuclear body protein isoform 1	479					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)														---	---	---	---
SP140L	93349	broad.mit.edu	37	2	231222653	231222653	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:231222653C>T	uc010fxm.1	+	3	332	c.241C>T	c.(241-243)CGG>TGG	p.R81W	SP140_uc010zma.1_RNA|SP140L_uc010fxn.1_5'UTR	NM_138402	NP_612411	Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	81	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)	1																		---	---	---	---
PSMD1	5707	broad.mit.edu	37	2	232011002	232011002	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:232011002G>A	uc002vrn.1	+	18	2178	c.2047G>A	c.(2047-2049)GTG>ATG	p.V683M	PSMD1_uc002vrm.1_Missense_Mutation_p.V683M|PSMD1_uc010fxu.1_Missense_Mutation_p.V547M	NM_002807	NP_002798	Q99460	PSMD1_HUMAN	proteasome 26S non-ATPase subunit 1	683	PC 8.				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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			ovary(1)|skin(1)	2		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)													---	---	---	---
C2orf57	165100	broad.mit.edu	37	2	232458076	232458076	+	Silent	SNP	G	A	A	rs139110116		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:232458076G>A	uc002vrz.2	+	1	465	c.414G>A	c.(412-414)GCG>GCA	p.A138A		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	hypothetical protein LOC165100	138										ovary(1)	1		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)														---	---	---	---
ALPPL2	251	broad.mit.edu	37	2	233274497	233274497	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233274497C>T	uc002vss.3	+	11	1567	c.1514C>T	c.(1513-1515)GCG>GTG	p.A505V		NM_031313	NP_112603	P10696	PPBN_HUMAN	placental-like alkaline phosphatase	505					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			skin(1)	1		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)													---	---	---	---
SH3BP4	23677	broad.mit.edu	37	2	235950856	235950856	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:235950856T>C	uc002vvp.2	+	4	1836	c.1443T>C	c.(1441-1443)CCT>CCC	p.P481P	SH3BP4_uc010fym.2_Silent_p.P481P|SH3BP4_uc002vvq.2_Silent_p.P481P	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	481					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			skin(3)|ovary(1)	4		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)														---	---	---	---
AGAP1	116987	broad.mit.edu	37	2	237028934	237028934	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:237028934G>A	uc002vvs.2	+	17	2808	c.2213G>A	c.(2212-2214)CGG>CAG	p.R738Q	AGAP1_uc002vvt.2_Missense_Mutation_p.R685Q	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	centaurin, gamma 2 isoform 1	738					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
AGAP1	116987	broad.mit.edu	37	2	237032559	237032559	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:237032559G>A	uc002vvs.2	+						AGAP1_uc002vvt.2_Intron	NM_001037131	NP_001032208			centaurin, gamma 2 isoform 1						protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
ASB1	51665	broad.mit.edu	37	2	239342333	239342333	+	Missense_Mutation	SNP	G	A	A	rs143803285		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:239342333G>A	uc002vyg.2	+	2	274	c.188G>A	c.(187-189)CGG>CAG	p.R63Q		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box-containing protein	63	ANK 1.				intracellular signal transduction|negative regulation of cytokine biosynthetic process						0		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)														---	---	---	---
OR6B2	389090	broad.mit.edu	37	2	240969167	240969167	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:240969167C>A	uc002vyr.2	-	2	726	c.680G>T	c.(679-681)CGC>CTC	p.R227L	OR6B2_uc010zoc.1_Missense_Mutation_p.R227L	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B,	227	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)														---	---	---	---
PRR21	643905	broad.mit.edu	37	2	240982128	240982128	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:240982128G>T	uc010zod.1	-	1	272	c.272C>A	c.(271-273)CCT>CAT	p.P91H		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	91	Pro-rich.									ovary(1)|skin(1)	2																		---	---	---	---
ANKMY1	51281	broad.mit.edu	37	2	241463321	241463321	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241463321T>C	uc002vyz.1	-	7	1775	c.1546A>G	c.(1546-1548)ATG>GTG	p.M516V	ANKMY1_uc002vza.1_Missense_Mutation_p.M375V|ANKMY1_uc010fzd.1_Missense_Mutation_p.M605V|ANKMY1_uc002vzb.1_Missense_Mutation_p.M277V|ANKMY1_uc002vzc.1_Missense_Mutation_p.M375V|ANKMY1_uc002vzd.1_Missense_Mutation_p.M375V|ANKMY1_uc010fze.1_Missense_Mutation_p.M185V|ANKMY1_uc002vze.2_Missense_Mutation_p.M277V	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	516	ANK 2.						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)														---	---	---	---
ANKMY1	51281	broad.mit.edu	37	2	241465683	241465683	+	Missense_Mutation	SNP	G	A	A	rs117389170	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:241465683G>A	uc002vyz.1	-	5	1095	c.866C>T	c.(865-867)GCG>GTG	p.A289V	ANKMY1_uc002vza.1_Intron|ANKMY1_uc010fzd.1_Missense_Mutation_p.A378V|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	289							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)														---	---	---	---
PASK	23178	broad.mit.edu	37	2	242065999	242065999	+	Silent	SNP	G	A	A	rs139322342	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242065999G>A	uc002wao.1	-	10	2423	c.2331C>T	c.(2329-2331)TCC>TCT	p.S777S	PASK_uc010zol.1_Silent_p.S591S|PASK_uc010zom.1_Silent_p.S742S|PASK_uc010fzl.1_Silent_p.S777S|PASK_uc010zon.1_Silent_p.S558S|PASK_uc002wap.2_Silent_p.S320S|PASK_uc002waq.2_Silent_p.S777S	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	777					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			ovary(4)|lung(1)|skin(1)	6		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)														---	---	---	---
PPP1R7	5510	broad.mit.edu	37	2	242102698	242102698	+	Splice_Site	SNP	A	G	G	rs111491483		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242102698A>G	uc002wat.1	+	7	613	c.598_splice	c.e7-2	p.A200_splice	PPP1R7_uc010fzm.1_Splice_Site_p.A184_splice|PPP1R7_uc002war.2_Splice_Site_p.A194_splice|PPP1R7_uc002was.2_Splice_Site_p.A200_splice|PPP1R7_uc002wau.1_Splice_Site_p.A157_splice|PPP1R7_uc002wav.1_Splice_Site_p.A126_splice	NM_002712	NP_002703			protein phosphatase 1, regulatory subunit 7							cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			ovary(3)	3		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)														---	---	---	---
HDLBP	3069	broad.mit.edu	37	2	242169367	242169367	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242169367C>T	uc002waz.2	-	27	3829	c.3601G>A	c.(3601-3603)GTG>ATG	p.V1201M	HDLBP_uc002wba.2_Missense_Mutation_p.V1201M|HDLBP_uc002wbb.2_Missense_Mutation_p.V1153M	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1201	KH 14.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)														---	---	---	---
HDLBP	3069	broad.mit.edu	37	2	242173273	242173273	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242173273C>T	uc002waz.2	-	24	3478	c.3250G>A	c.(3250-3252)GTG>ATG	p.V1084M	HDLBP_uc002wba.2_Missense_Mutation_p.V1084M|HDLBP_uc002wbb.2_Missense_Mutation_p.V1036M	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1084	KH 13.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(3)|skin(1)	4		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)														---	---	---	---
THAP4	51078	broad.mit.edu	37	2	242572368	242572368	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242572368C>T	uc002wbt.2	-	2	1427	c.1204G>A	c.(1204-1206)GTC>ATC	p.V402I		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	THAP domain containing 4 isoform 1	402							DNA binding|metal ion binding				0		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)														---	---	---	---
CHL1	10752	broad.mit.edu	37	3	369870	369870	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:369870G>A	uc003bou.2	+	5	489	c.218G>A	c.(217-219)GGC>GAC	p.G73D	CHL1_uc003bot.2_Missense_Mutation_p.G73D|CHL1_uc003bow.1_Missense_Mutation_p.G73D|CHL1_uc011asi.1_Missense_Mutation_p.G73D	NM_006614	NP_006605	O00533	CHL1_HUMAN	cell adhesion molecule with homology to L1CAM	73	Ig-like C2-type 1.|Extracellular (Potential).				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)														---	---	---	---
CNTN6	27255	broad.mit.edu	37	3	1339643	1339643	+	Silent	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:1339643A>C	uc003boz.2	+	7	996	c.729A>C	c.(727-729)TCA>TCC	p.S243S	CNTN6_uc010hbo.2_Silent_p.S238S|CNTN6_uc011asj.1_Silent_p.S171S|CNTN6_uc003bpa.2_Silent_p.S243S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	contactin 6 precursor	243	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				skin(3)|lung(2)|breast(2)|pancreas(1)	8		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)														---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	3078938	3078938	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:3078938G>A	uc003bpc.2	+	17	2239	c.2018G>A	c.(2017-2019)CGC>CAC	p.R673H	CNTN4_uc003bpb.1_Missense_Mutation_p.R344H|CNTN4_uc003bpd.1_Missense_Mutation_p.R673H|CNTN4_uc003bpe.2_Missense_Mutation_p.R345H|CNTN4_uc003bpf.2_Missense_Mutation_p.R344H|CNTN4_uc003bpg.2_5'Flank	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN	contactin 4 isoform a precursor	673	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4699938	4699938	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4699938G>A	uc003bqa.2	+	13	1475	c.1127G>A	c.(1126-1128)CGT>CAT	p.R376H	ITPR1_uc010hca.1_Missense_Mutation_p.R361H|ITPR1_uc011asu.1_Intron|ITPR1_uc010hcb.1_Missense_Mutation_p.R361H	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	376	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
ITPR1	3708	broad.mit.edu	37	3	4859858	4859858	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:4859858G>A	uc003bqa.2	+	57	8164	c.7816G>A	c.(7816-7818)GTC>ATC	p.V2606I	ITPR1_uc010hca.1_Missense_Mutation_p.V2591I|ITPR1_uc011asu.1_Missense_Mutation_p.V617I|ITPR1_uc003bqc.2_Missense_Mutation_p.V1576I|ITPR1_uc010hcc.1_Missense_Mutation_p.V374I|ITPR1_uc011asv.1_Missense_Mutation_p.V330I	NM_001099952	NP_001093422	Q14643	ITPR1_HUMAN	inositol 1,4,5-triphosphate receptor, type 1	2654	Cytoplasmic (Potential).				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1)	21				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)														---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9476546	9476546	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9476546G>A	uc003brt.2	+	6	803	c.368G>A	c.(367-369)CGG>CAG	p.R123Q	SETD5_uc003brs.1_Missense_Mutation_p.R104Q|SETD5_uc003bru.2_Missense_Mutation_p.R12Q|SETD5_uc003brv.2_Missense_Mutation_p.R12Q	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	SET domain containing 5	123										ovary(2)	2	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)														---	---	---	---
IL17RE	132014	broad.mit.edu	37	3	9952555	9952555	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:9952555C>T	uc003btu.2	+	10	926	c.809C>T	c.(808-810)TCG>TTG	p.S270L	CIDEC_uc003bto.2_Intron|IL17RE_uc011atn.1_RNA|IL17RE_uc003btw.2_Missense_Mutation_p.S270L|IL17RE_uc003btx.2_Missense_Mutation_p.S154L|IL17RE_uc010hcq.2_Missense_Mutation_p.S270L|IL17RE_uc003bty.2_RNA	NM_153483	NP_705616	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E isoform 1	270	Extracellular (Potential).			S -> P (in Ref. 3; BAC04864).		cytoplasm|extracellular region|integral to membrane	receptor activity			central_nervous_system(1)	1				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)														---	---	---	---
ATP2B2	491	broad.mit.edu	37	3	10413525	10413525	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10413525C>T	uc003bvt.2	-	12	2066	c.1627G>A	c.(1627-1629)GCC>ACC	p.A543T	ATP2B2_uc003bvv.2_Missense_Mutation_p.A498T|ATP2B2_uc003bvw.2_Missense_Mutation_p.A498T|ATP2B2_uc010hdo.2_Missense_Mutation_p.A248T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	plasma membrane calcium ATPase 2 isoform 1	543	Cytoplasmic (Potential).				ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---
SLC6A11	6538	broad.mit.edu	37	3	10979960	10979960	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10979960A>G	uc003bvz.2	+	14	1805	c.1771A>G	c.(1771-1773)AGC>GGC	p.S591G		NM_014229	NP_055044	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter	591	Cytoplasmic (Potential).				neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(96;0.229)														---	---	---	---
TMEM43	79188	broad.mit.edu	37	3	14183166	14183166	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14183166G>A	uc003byk.2	+	12	1328	c.1074G>A	c.(1072-1074)TCG>TCA	p.S358S		NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	358	Helical; (Potential).		S -> L (in ARVD5).			endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				ovary(1)	1																		---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14552950	14552950	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14552950G>A	uc011avi.1	-	16	2052	c.2052C>T	c.(2050-2052)TCC>TCT	p.S684S	GRIP2_uc010heh.2_RNA|GRIP2_uc011avh.1_Silent_p.S215S	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2	586	PDZ 5.				synaptic transmission	cytosol|plasma membrane	protein binding			pancreas(1)	1																		---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19322736	19322736	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19322736A>C	uc003cbk.1	+	3	552	c.357A>C	c.(355-357)GAA>GAC	p.E119D	KCNH8_uc011awe.1_Missense_Mutation_p.E119D|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H,	119	PAC.|Cytoplasmic (Potential).					integral to membrane	two-component sensor activity			lung(4)|ovary(1)	5																		---	---	---	---
KAT2B	8850	broad.mit.edu	37	3	20161147	20161147	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:20161147T>C	uc003cbq.2	+	8	1654	c.1208T>C	c.(1207-1209)CTT>CCT	p.L403P		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	403					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																		---	---	---	---
OSBPL10	114884	broad.mit.edu	37	3	31871582	31871582	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:31871582C>T	uc003cev.2	-	5	1060	c.679G>A	c.(679-681)GCC>ACC	p.A227T	OSBPL10_uc003ceu.1_5'UTR|OSBPL10_uc011axf.1_Intron	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	oxysterol-binding protein-like protein 10	227					lipid transport		lipid binding			skin(1)	1				STAD - Stomach adenocarcinoma(1;0.00406)														---	---	---	---
GLB1	2720	broad.mit.edu	37	3	33038803	33038803	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:33038803G>A	uc003cfi.1	-	16	1885	c.1768C>T	c.(1768-1770)CGC>TGC	p.R590C	GLB1_uc003cfh.1_Missense_Mutation_p.R560C|GLB1_uc003cfj.1_Missense_Mutation_p.R459C|GLB1_uc011axk.1_Missense_Mutation_p.R638C	NM_000404	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1 isoform a preproprotein	590			R -> H (in GM1G2).|R -> C (in GM1G1).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			large_intestine(1)	1		Melanoma(143;0.104)																---	---	---	---
OXSR1	9943	broad.mit.edu	37	3	38263141	38263141	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38263141G>A	uc003chy.2	+	6	905	c.563G>A	c.(562-564)GGC>GAC	p.G188D	OXSR1_uc010hhb.2_Missense_Mutation_p.G122D|OXSR1_uc010hha.1_Missense_Mutation_p.G120D	NM_005109	NP_005100	O95747	OXSR1_HUMAN	oxidative-stress responsive 1	188	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)														---	---	---	---
XIRP1	165904	broad.mit.edu	37	3	39230773	39230773	+	Missense_Mutation	SNP	C	T	T	rs150061276		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39230773C>T	uc003cjk.1	-	2	385	c.164G>A	c.(163-165)CGC>CAC	p.R55H	XIRP1_uc003cji.2_Missense_Mutation_p.R55H|XIRP1_uc003cjj.2_Intron	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	55							actin binding			ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)														---	---	---	---
CCR8	1237	broad.mit.edu	37	3	39374486	39374486	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:39374486C>A	uc010hhr.2	+	2	802	c.664C>A	c.(664-666)CTG>ATG	p.L222M	CCR8_uc003cjm.2_Missense_Mutation_p.L139M	NM_005201	NP_005192	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	222	Helical; Name=5; (Potential).				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			ovary(1)|lung(1)	2				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)														---	---	---	---
TRAK1	22906	broad.mit.edu	37	3	42264785	42264785	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42264785C>T	uc003cky.2	+	16	2634	c.2418C>T	c.(2416-2418)TAC>TAT	p.Y806Y	TRAK1_uc011azi.1_Silent_p.Y785Y	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	OGT(O-Glc-NAc transferase)-interacting protein	806					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				ovary(1)	1																		---	---	---	---
KBTBD5	131377	broad.mit.edu	37	3	42728197	42728197	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42728197G>A	uc003clv.1	+	1	1187	c.1087G>A	c.(1087-1089)GTG>ATG	p.V363M		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	363	Kelch 1.									ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)														---	---	---	---
CCDC13	152206	broad.mit.edu	37	3	42784383	42784383	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42784383G>A	uc003cly.3	-							NM_144719	NP_653320			coiled-coil domain containing 13											ovary(1)	1																		---	---	---	---
HIGD1A	25994	broad.mit.edu	37	3	42835658	42835658	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42835658C>T	uc003cma.3	-	2	234	c.88G>A	c.(88-90)GTA>ATA	p.V30I	HIGD1A_uc010hid.2_Missense_Mutation_p.V44I|HIGD1A_uc003cmb.3_Missense_Mutation_p.V30I	NM_001099669	NP_001093139	Q9Y241	HIG1A_HUMAN	HIG1 domain family, member 1A isoform b	30	Helical; (Potential).|HIG1.				response to stress	integral to membrane|protein complex	protein binding				0				KIRC - Kidney renal clear cell carcinoma(284;0.217)														---	---	---	---
KIF15	56992	broad.mit.edu	37	3	44856549	44856549	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44856549C>T	uc003cnx.3	+	20	2679	c.2530C>T	c.(2530-2532)CTT>TTT	p.L844F	KIF15_uc010hiq.2_Missense_Mutation_p.L747F|KIF15_uc010hir.2_5'UTR	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	kinesin family member 15	844	Potential.				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)														---	---	---	---
ZDHHC3	51304	broad.mit.edu	37	3	45000645	45000645	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:45000645C>T	uc003cod.2	-	2	558	c.284G>A	c.(283-285)TGC>TAC	p.C95Y	ZDHHC3_uc003cog.2_Missense_Mutation_p.C95Y|ZDHHC3_uc011bad.1_Missense_Mutation_p.C95Y	NM_016598	NP_057682	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3 isoform 2	95	Cytoplasmic (Potential).					Golgi membrane|integral to membrane	zinc ion binding				0				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)														---	---	---	---
XCR1	2829	broad.mit.edu	37	3	46062638	46062638	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46062638C>T	uc003cpe.2	-	3	1026	c.802G>A	c.(802-804)GCC>ACC	p.A268T	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.A268T	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	268	Helical; Name=7; (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)														---	---	---	---
RTP3	83597	broad.mit.edu	37	3	46542209	46542209	+	Silent	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46542209A>C	uc003cps.1	+	2	587	c.519A>C	c.(517-519)CCA>CCC	p.P173P		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	transmembrane protein 7	173	Cytoplasmic (Potential).				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			ovary(2)	2				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)														---	---	---	---
CSPG5	10675	broad.mit.edu	37	3	47604204	47604204	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47604204G>A	uc003crp.3	-	5	1763	c.1587C>T	c.(1585-1587)TGC>TGT	p.C529C	CSPG5_uc003crm.2_RNA|CSPG5_uc003crn.2_Silent_p.C364C|CSPG5_uc003cro.3_Silent_p.C502C|CSPG5_uc011bbb.1_Silent_p.C391C	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	529	Cytoplasmic (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)														---	---	---	---
CSPG5	10675	broad.mit.edu	37	3	47619349	47619349	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47619349G>A	uc003crp.3	-	2	343	c.167C>T	c.(166-168)GCC>GTC	p.A56V	CSPG5_uc003crn.2_5'UTR|CSPG5_uc003cro.3_Missense_Mutation_p.A56V|CSPG5_uc011bbb.1_5'UTR	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	56	Extracellular (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)														---	---	---	---
DHX30	22907	broad.mit.edu	37	3	47889959	47889959	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47889959G>A	uc003cru.2	+	16	2920	c.2494G>A	c.(2494-2496)GCG>ACG	p.A832T	DHX30_uc003crt.2_Missense_Mutation_p.A793T|MIR1226_hsa-mir-1226|MI0006313_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 30	832						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			ovary(2)|skin(2)	4				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)														---	---	---	---
PLXNB1	5364	broad.mit.edu	37	3	48461445	48461445	+	Silent	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48461445G>T	uc003csw.2	-	11	2520	c.2250C>A	c.(2248-2250)TCC>TCA	p.S750S	PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Silent_p.S750S|PLXNB1_uc010hjx.1_Intron	NM_002673	NP_002664	O43157	PLXB1_HUMAN	plexin B1 precursor	750	Extracellular (Potential).|Pro-rich.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			ovary(2)|pancreas(1)|breast(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48613861	48613861	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48613861C>T	uc003ctz.2	-	69	5745	c.5744G>A	c.(5743-5745)CGT>CAT	p.R1915H		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	1915	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48627984	48627984	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48627984C>T	uc003ctz.2	-	14	1815	c.1814G>A	c.(1813-1815)CGG>CAG	p.R605Q		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	alpha 1 type VII collagen precursor	605	Nonhelical region (NC1).|Fibronectin type-III 5.				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)														---	---	---	---
QARS	5859	broad.mit.edu	37	3	49137813	49137813	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49137813C>T	uc003cvx.2	-	12	1060	c.1055G>A	c.(1054-1056)AGG>AAG	p.R352K	QARS_uc011bcc.1_5'Flank|QARS_uc011bcd.1_Missense_Mutation_p.R207K|QARS_uc003cvy.2_Missense_Mutation_p.R207K|QARS_uc011bce.1_Missense_Mutation_p.R341K	NM_005051	NP_005042	P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	352					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)													---	---	---	---
LAMB2	3913	broad.mit.edu	37	3	49162453	49162453	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49162453C>T	uc003cwe.2	-	20	3169	c.2870G>A	c.(2869-2871)CGG>CAG	p.R957Q	LAMB2_uc003cwf.1_Missense_Mutation_p.R957Q	NM_002292	NP_002283	P55268	LAMB2_HUMAN	laminin, beta 2 precursor	957	Laminin EGF-like 9.				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)														---	---	---	---
BSN	8927	broad.mit.edu	37	3	49689184	49689184	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49689184G>A	uc003cxe.3	+	5	2309	c.2195G>A	c.(2194-2196)CGG>CAG	p.R732Q		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	732					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---
BSN	8927	broad.mit.edu	37	3	49690800	49690800	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49690800C>T	uc003cxe.3	+	5	3925	c.3811C>T	c.(3811-3813)CGG>TGG	p.R1271W		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	1271					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---
BSN	8927	broad.mit.edu	37	3	49700310	49700310	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49700310G>A	uc003cxe.3	+	7	10833	c.10719G>A	c.(10717-10719)GCG>GCA	p.A3573A		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3573					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---
BSN	8927	broad.mit.edu	37	3	49700781	49700781	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49700781C>T	uc003cxe.3	+	7	11304	c.11190C>T	c.(11188-11190)TCC>TCT	p.S3730S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	bassoon protein	3730					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)														---	---	---	---
TRAIP	10293	broad.mit.edu	37	3	49881302	49881302	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:49881302G>A	uc003cxs.1	-	5	446	c.340C>T	c.(340-342)CGC>TGC	p.R114C	TRAIP_uc010hla.1_Missense_Mutation_p.R114C|TRAIP_uc011bcx.1_Missense_Mutation_p.R114C	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	114	Potential.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)														---	---	---	---
HYAL1	3373	broad.mit.edu	37	3	50339807	50339807	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50339807C>T	uc003czp.2	-	2	713	c.581G>A	c.(580-582)CGT>CAT	p.R194H	HYAL3_uc003czd.1_5'Flank|HYAL3_uc003cze.1_5'Flank|HYAL3_uc003czf.1_5'Flank|HYAL3_uc003czg.1_5'Flank|NAT6_uc003czk.3_5'Flank|NAT6_uc003czl.1_5'Flank|HYAL1_uc003czm.2_Missense_Mutation_p.R12H|HYAL1_uc003czo.2_Intron|HYAL1_uc003czq.2_Missense_Mutation_p.R194H|HYAL1_uc003czr.2_Missense_Mutation_p.R194H|HYAL1_uc003czn.2_Intron|HYAL1_uc003czs.2_Missense_Mutation_p.R194H|HYAL1_uc003czt.2_Missense_Mutation_p.R194H	NM_033159	NP_149349	Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1 isoform 1	194						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)													---	---	---	---
CACNA2D2	9254	broad.mit.edu	37	3	50404552	50404552	+	Intron	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50404552G>C	uc003daq.2	-						CACNA2D2_uc003dap.2_Intron|CACNA2D2_uc003dao.2_5'Flank	NM_006030	NP_006021			calcium channel, voltage-dependent, alpha						energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)													---	---	---	---
MAPKAPK3	7867	broad.mit.edu	37	3	50677912	50677912	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:50677912G>A	uc003day.1	+	5	931	c.335G>A	c.(334-336)CGC>CAC	p.R112H	MAPKAPK3_uc003daz.1_Missense_Mutation_p.R112H|MAPKAPK3_uc003dba.1_Missense_Mutation_p.R112H|MAPKAPK3_uc010hlr.1_Missense_Mutation_p.R112H	NM_004635	NP_004626	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated	112	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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 kinase activity|protein serine/threonine kinase activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51263169	51263169	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51263169A>G	uc011bds.1	+	15	1365	c.1342A>G	c.(1342-1344)ATG>GTG	p.M448V		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	448	DHR-1.					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)														---	---	---	---
DOCK3	1795	broad.mit.edu	37	3	51297728	51297728	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51297728C>T	uc011bds.1	+	23	2349	c.2326C>T	c.(2326-2328)CGA>TGA	p.R776*		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	776						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)														---	---	---	---
VPRBP	9730	broad.mit.edu	37	3	51467616	51467616	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51467616G>T	uc003dbe.1	-	10	1504	c.1336C>A	c.(1336-1338)CTG>ATG	p.L446M		NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	HIV-1 Vpr binding protein	446					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)														---	---	---	---
RAD54L2	23132	broad.mit.edu	37	3	51672266	51672266	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51672266C>T	uc011bdt.1	+	11	1914	c.1789C>T	c.(1789-1791)CGC>TGC	p.R597C	RAD54L2_uc003dbh.2_Missense_Mutation_p.R188C|RAD54L2_uc011bdu.1_Missense_Mutation_p.R291C|RAD54L2_uc003dbj.2_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2	597						nucleus	ATP binding|DNA binding|helicase activity			ovary(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)												OREG0015596	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
GRM2	2912	broad.mit.edu	37	3	51743220	51743220	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51743220G>A	uc010hlv.2	+	2	460	c.221G>A	c.(220-222)CGT>CAT	p.R74H	GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	74	Extracellular (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)													---	---	---	---
IQCF1	132141	broad.mit.edu	37	3	51929217	51929217	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51929217G>A	uc003dbv.2	-	4	405	c.307C>T	c.(307-309)CGG>TGG	p.R103W	IQCF1_uc003dbq.3_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	103										ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)														---	---	---	---
POC1A	25886	broad.mit.edu	37	3	52172326	52172326	+	Intron	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52172326A>G	uc003dcu.2	-						POC1A_uc003dcv.2_Intron|POC1A_uc003dcw.2_Intron	NM_015426	NP_056241			WD repeat domain 51A isoform 1							centriole|microtubule basal body					0																		---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52394100	52394100	+	Intron	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52394100G>T	uc011bef.1	+							NM_015512	NP_056327			dynein, axonemal, heavy chain 1						ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			large_intestine(3)	3				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)														---	---	---	---
NISCH	11188	broad.mit.edu	37	3	52526377	52526377	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52526377G>A	uc011beg.1	+	22	4466	c.4394G>A	c.(4393-4395)CGT>CAT	p.R1465H	NISCH_uc003ded.3_Missense_Mutation_p.R1465H|NISCH_uc003dee.3_Missense_Mutation_p.R954H|NISCH_uc003deg.1_Intron|NISCH_uc003deh.3_Missense_Mutation_p.R214H|STAB1_uc003dei.1_5'Flank|STAB1_uc003dej.2_5'Flank	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1465					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)														---	---	---	---
STAB1	23166	broad.mit.edu	37	3	52554531	52554531	+	Missense_Mutation	SNP	G	A	A	rs147953260	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52554531G>A	uc003dej.2	+	53	5689	c.5615G>A	c.(5614-5616)CGC>CAC	p.R1872H	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.2_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	stabilin 1 precursor	1872	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)														---	---	---	---
PRKCD	5580	broad.mit.edu	37	3	53213676	53213676	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:53213676C>T	uc003dgl.2	+	4	552	c.199C>T	c.(199-201)CGC>TGC	p.R67C	PRKCD_uc003dgm.2_Missense_Mutation_p.R67C|PRKCD_uc003dgn.2_Missense_Mutation_p.R67C	NM_006254	NP_006245	Q05655	KPCD_HUMAN	protein kinase C, delta	67	C2.	Interaction with phosphotyrosine- containing peptide.			activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	p.R67C(1)		central_nervous_system(4)|lung(3)|stomach(1)|skin(1)	9		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)														---	---	---	---
LRTM1	57408	broad.mit.edu	37	3	54952676	54952676	+	Missense_Mutation	SNP	C	T	T	rs142542421	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:54952676C>T	uc003dhl.2	-	3	982	c.848G>A	c.(847-849)CGT>CAT	p.R283H	CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	283	Extracellular (Potential).					integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)														---	---	---	---
IL17RD	54756	broad.mit.edu	37	3	57132102	57132102	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:57132102G>A	uc003dil.2	-	12	1718	c.1629C>T	c.(1627-1629)TAC>TAT	p.Y543Y	IL17RD_uc003dik.2_Silent_p.Y519Y|IL17RD_uc010hna.2_Silent_p.Y399Y|IL17RD_uc011bex.1_Silent_p.Y399Y	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D precursor	543	Cytoplasmic (Potential).					Golgi membrane|integral to membrane|plasma membrane	receptor activity				0				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)														---	---	---	---
PRICKLE2	166336	broad.mit.edu	37	3	64085079	64085079	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64085079C>T	uc003dmf.2	-	8	2769	c.2183G>A	c.(2182-2184)CGC>CAC	p.R728H		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	prickle-like 2	728	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			ovary(4)|skin(1)	5		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)														---	---	---	---
ADAMTS9	56999	broad.mit.edu	37	3	64587682	64587682	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64587682C>T	uc003dmg.2	-	26	3987	c.3955G>A	c.(3955-3957)GCC>ACC	p.A1319T	ADAMTS9_uc011bfo.1_Missense_Mutation_p.A1291T|ADAMTS9_uc003dmh.1_Missense_Mutation_p.A1148T|ADAMTS9_uc011bfp.1_Missense_Mutation_p.A230T	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1319					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)														---	---	---	---
MAGI1	9223	broad.mit.edu	37	3	65342134	65342134	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:65342134C>T	uc003dmn.2	-	23	4834	c.4308G>A	c.(4306-4308)CAG>CAA	p.Q1436Q	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1465					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)														---	---	---	---
SUCLG2	8801	broad.mit.edu	37	3	67546341	67546341	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:67546341C>T	uc003dna.3	-	9	971	c.943G>A	c.(943-945)GCT>ACT	p.A315T	SUCLG2_uc010hob.2_Intron	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	315					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|skin(1)	2		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)													---	---	---	---
SUCLG2	8801	broad.mit.edu	37	3	67559237	67559237	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:67559237C>G	uc003dna.3	-	7	779	c.751G>C	c.(751-753)GGA>CGA	p.G251R	SUCLG2_uc010hob.2_Intron	NM_003848	NP_003839	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming beta subunit	251	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|skin(1)	2		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)													---	---	---	---
PDZRN3	23024	broad.mit.edu	37	3	73433934	73433934	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:73433934C>T	uc003dpl.1	-	10	1879	c.1783G>A	c.(1783-1785)GCA>ACA	p.A595T	PDZRN3_uc011bgh.1_Missense_Mutation_p.A252T|PDZRN3_uc010hoe.1_Missense_Mutation_p.A293T|PDZRN3_uc011bgf.1_Missense_Mutation_p.A312T|PDZRN3_uc011bgg.1_Missense_Mutation_p.A315T	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	595							ubiquitin-protein ligase activity|zinc ion binding			pancreas(2)|ovary(2)|skin(2)|large_intestine(1)	7		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)														---	---	---	---
CD96	10225	broad.mit.edu	37	3	111304161	111304161	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111304161G>A	uc003dxw.2	+						CD96_uc003dxv.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron	NM_198196	NP_937839			CD96 antigen isoform 1 precursor						cell adhesion|immune response|regulation of immune response	integral to plasma membrane				skin(2)|central_nervous_system(1)	3														Opitz_Trigonocephaly_syndrome				---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111604216	111604216	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111604216G>A	uc010hqa.2	+	2	1703	c.1292G>A	c.(1291-1293)CGG>CAG	p.R431Q	PHLDB2_uc003dyc.2_Missense_Mutation_p.R458Q|PHLDB2_uc003dyd.2_Missense_Mutation_p.R431Q|PHLDB2_uc003dyg.2_Missense_Mutation_p.R431Q|PHLDB2_uc003dyh.2_Missense_Mutation_p.R431Q|PHLDB2_uc003dye.3_Missense_Mutation_p.R431Q|PHLDB2_uc003dyf.3_Missense_Mutation_p.R431Q	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	431						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6																		---	---	---	---
SLC9A10	285335	broad.mit.edu	37	3	111860140	111860140	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111860140G>A	uc003dyu.2	-						SLC9A10_uc011bhu.1_Intron|SLC9A10_uc010hqc.2_Intron	NM_183061	NP_898884			sperm-specific sodium proton exchanger						cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity			ovary(3)|breast(2)	5																		---	---	---	---
BOC	91653	broad.mit.edu	37	3	112998786	112998786	+	Silent	SNP	C	T	T	rs147219655		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112998786C>T	uc003dzx.2	+	13	2757	c.2136C>T	c.(2134-2136)CCC>CCT	p.P712P	BOC_uc003dzy.2_Silent_p.P712P|BOC_uc003dzz.2_Silent_p.P713P|BOC_uc003eab.2_Silent_p.P413P|BOC_uc003eac.2_Silent_p.P27P	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	brother of CDO precursor	712	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1)	6			Epithelial(53;0.227)															---	---	---	---
ATP6V1A	523	broad.mit.edu	37	3	113513952	113513952	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113513952C>T	uc003eao.2	+	10	1193	c.1127C>T	c.(1126-1128)GCC>GTC	p.A376V	ATP6V1A_uc011bik.1_Missense_Mutation_p.A343V	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	376					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																		---	---	---	---
DRD3	1814	broad.mit.edu	37	3	113890561	113890561	+	Intron	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113890561T>C	uc003ebd.2	-						DRD3_uc010hqn.1_Intron|DRD3_uc003ebb.1_Intron|DRD3_uc003ebc.1_Intron	NM_000796	NP_000787			dopamine receptor D3 isoform a						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)													---	---	---	---
GAP43	2596	broad.mit.edu	37	3	115395094	115395094	+	Missense_Mutation	SNP	G	A	A	rs11557765		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:115395094G>A	uc003ebq.2	+	2	651	c.265G>A	c.(265-267)GAA>AAA	p.E89K	GAP43_uc003ebr.2_Missense_Mutation_p.E125K	NM_002045	NP_002036	P17677	NEUM_HUMAN	growth associated protein 43 isoform 2	89					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.164)														---	---	---	---
TMEM39A	55254	broad.mit.edu	37	3	119153616	119153616	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119153616C>T	uc003eck.1	-	8	1589	c.1226G>A	c.(1225-1227)CGC>CAC	p.R409H	TMEM39A_uc003ecl.1_Missense_Mutation_p.R257H	NM_018266	NP_060736	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	409						integral to membrane				ovary(1)|breast(1)	2				GBM - Glioblastoma multiforme(114;0.244)														---	---	---	---
KTELC1	56983	broad.mit.edu	37	3	119204224	119204224	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119204224C>T	uc003ecm.2	+	6	712	c.628C>T	c.(628-630)CGA>TGA	p.R210*	KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Nonsense_Mutation_p.R51*	NM_152305	NP_689518	Q8NBL1	PGLT1_HUMAN	KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor	210						endoplasmic reticulum lumen	UDP-glucosyltransferase activity				0				GBM - Glioblastoma multiforme(114;0.233)														---	---	---	---
CD80	941	broad.mit.edu	37	3	119263442	119263442	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:119263442C>T	uc003ecq.2	-	3	768	c.373G>A	c.(373-375)GCT>ACT	p.A125T	CD80_uc010hqt.1_Missense_Mutation_p.A125T|CD80_uc010hqu.1_Missense_Mutation_p.A125T|CD80_uc003ecr.1_Missense_Mutation_p.A125T	NM_005191	NP_005182	P33681	CD80_HUMAN	CD80 antigen precursor	125	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2					Abatacept(DB01281)													---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121256027	121256027	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121256027C>T	uc003eee.3	-	5	789	c.660G>A	c.(658-660)ATG>ATA	p.M220I		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	220	Helicase ATP-binding.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)									DNA_polymerases_(catalytic_subunits)					---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121260336	121260336	+	Intron	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121260336G>T	uc003eee.3	-							NM_199420	NP_955452			DNA polymerase theta						DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)									DNA_polymerases_(catalytic_subunits)					---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122873884	122873884	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:122873884G>A	uc003egc.1	+	15	1396	c.1340G>A	c.(1339-1341)CGA>CAA	p.R447Q	PDIA5_uc003egd.1_RNA	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	protein disulfide isomerase A5 precursor	447	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			ovary(1)	1				GBM - Glioblastoma multiforme(114;0.0427)														---	---	---	---
ADCY5	111	broad.mit.edu	37	3	123022985	123022985	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123022985A>G	uc003egh.1	-	13	2488	c.2488T>C	c.(2488-2490)TCC>CCC	p.S830P	ADCY5_uc003egg.1_Missense_Mutation_p.S463P|ADCY5_uc003egi.1_Missense_Mutation_p.S389P	NM_183357	NP_899200	O95622	ADCY5_HUMAN	adenylate cyclase 5	830					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)														---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123359271	123359271	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:123359271C>T	uc003ego.2	-	28	4982	c.4700G>A	c.(4699-4701)CGG>CAG	p.R1567Q	MYLK_uc010hrr.2_Missense_Mutation_p.R2Q|MYLK_uc011bjv.1_Missense_Mutation_p.R367Q|MYLK_uc011bjw.1_Missense_Mutation_p.R1567Q|MYLK_uc003egp.2_Missense_Mutation_p.R1498Q|MYLK_uc003egq.2_Missense_Mutation_p.R1567Q|MYLK_uc003egr.2_Missense_Mutation_p.R1498Q|MYLK_uc003egs.2_Missense_Mutation_p.R1391Q	NM_053025	NP_444253	Q15746	MYLK_HUMAN	myosin light chain kinase isoform 1	1567	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)														---	---	---	---
ZNF148	7707	broad.mit.edu	37	3	125032418	125032418	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125032418A>G	uc003ehx.3	-	4	553	c.67T>C	c.(67-69)TCC>CCC	p.S23P	ZNF148_uc003ehz.3_Missense_Mutation_p.S23P|ZNF148_uc010hsa.2_Missense_Mutation_p.S23P|ZNF148_uc003eia.3_Missense_Mutation_p.S23P|ZNF148_uc003ehy.2_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	23					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
KLF15	28999	broad.mit.edu	37	3	126071431	126071431	+	Missense_Mutation	SNP	G	A	A	rs139892976	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126071431G>A	uc011bkk.1	-	2	517	c.335C>T	c.(334-336)GCG>GTG	p.A112V		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	112						nucleus	DNA binding|zinc ion binding			lung(1)	1				GBM - Glioblastoma multiforme(114;0.147)														---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126708091	126708091	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126708091G>A	uc003ejg.2	+	1	590	c.586G>A	c.(586-588)GTG>ATG	p.V196M		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	219	Sema.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)														---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126748890	126748890	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126748890C>T	uc003ejg.2	+	27	4979	c.4975C>T	c.(4975-4977)CGG>TGG	p.R1659W	PLXNA1_uc003ejh.2_Missense_Mutation_p.R327W	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	plexin A1	1682	Cytoplasmic (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			ovary(1)|pancreas(1)|skin(1)	3				GBM - Glioblastoma multiforme(114;0.155)														---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127325627	127325627	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127325627G>A	uc003ejp.2	+	6	1125	c.1068G>A	c.(1066-1068)CAG>CAA	p.Q356Q	MCM2_uc011bkm.1_Silent_p.Q226Q|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.Q240Q	NM_004526	NP_004517	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	356					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																		---	---	---	---
SEC61A1	29927	broad.mit.edu	37	3	127778967	127778967	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127778967C>T	uc003ekb.2	+	6	559	c.375C>T	c.(373-375)ATC>ATT	p.I125I	SEC61A1_uc003ekc.2_Silent_p.I72I|SEC61A1_uc003ekd.2_Silent_p.I5I	NM_013336	NP_037468	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit	125	Helical; (Potential).				protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			ovary(1)	1																		---	---	---	---
PLXND1	23129	broad.mit.edu	37	3	129290341	129290341	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129290341G>A	uc003emx.2	-							NM_015103	NP_055918			plexin D1 precursor						axon guidance	integral to membrane|intracellular|plasma membrane				large_intestine(1)	1																		---	---	---	---
ASTE1	28990	broad.mit.edu	37	3	130735111	130735111	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130735111C>T	uc003env.1	-	5	2028	c.1586G>A	c.(1585-1587)CGG>CAG	p.R529Q	ATP2C1_uc011blh.1_3'UTR|ATP2C1_uc011bli.1_3'UTR|ATP2C1_uc003enm.2_3'UTR|ATP2C1_uc003enn.2_3'UTR|ATP2C1_uc003enp.2_3'UTR|ATP2C1_uc003enr.2_3'UTR|ATP2C1_uc003ens.2_3'UTR|ATP2C1_uc003ent.2_3'UTR|ASTE1_uc010htm.1_Missense_Mutation_p.R529Q|ASTE1_uc011blj.1_RNA	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	asteroid homolog 1	529					DNA repair		nuclease activity				0																		---	---	---	---
NUDT16	131870	broad.mit.edu	37	3	131102022	131102022	+	3'UTR	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:131102022G>A	uc003eof.2	+	2					uc003eoc.1_5'Flank|NUDT16_uc011bln.1_Missense_Mutation_p.R96Q|NUDT16_uc003eog.1_Missense_Mutation_p.R109Q	NM_152395	NP_689608			nudix-type motif 16							nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding				0																		---	---	---	---
C3orf36	80111	broad.mit.edu	37	3	133647492	133647492	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133647492C>T	uc003epz.1	-	1	1165	c.156G>A	c.(154-156)ACG>ACA	p.T52T		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	hypothetical protein LOC80111	52										ovary(1)	1																		---	---	---	---
A4GNT	51146	broad.mit.edu	37	3	137843624	137843624	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137843624C>T	uc003ers.2	-	3	707	c.505G>A	c.(505-507)GAT>AAT	p.D169N		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	169	Lumenal (Potential).|DXD motif (By similarity).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1																		---	---	---	---
TXNDC6	347736	broad.mit.edu	37	3	138024846	138024846	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138024846C>A	uc003esg.2	-	8	664	c.636G>T	c.(634-636)GAG>GAT	p.E212D	TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Missense_Mutation_p.E127D|TXNDC6_uc003ese.1_Missense_Mutation_p.E151D	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	thioredoxin domain containing 6	212	NDK.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity			breast(3)|ovary(1)|pancreas(1)	5																		---	---	---	---
CEP70	80321	broad.mit.edu	37	3	138244336	138244336	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138244336C>T	uc003esl.2	-	11	1138	c.940G>A	c.(940-942)GTC>ATC	p.V314I	CEP70_uc011bmk.1_Missense_Mutation_p.V294I|CEP70_uc011bml.1_Missense_Mutation_p.V296I|CEP70_uc011bmm.1_Missense_Mutation_p.V162I|CEP70_uc003esm.2_Missense_Mutation_p.V314I	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70 kDa	314	Potential.				G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			skin(1)	1																		---	---	---	---
CLSTN2	64084	broad.mit.edu	37	3	140277617	140277617	+	Silent	SNP	C	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:140277617C>G	uc003etn.2	+	12	2149	c.1959C>G	c.(1957-1959)GCC>GCG	p.A653A		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	calsyntenin 2 precursor	653	Extracellular (Potential).				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7															HNSCC(16;0.037)			---	---	---	---
ACPL2	92370	broad.mit.edu	37	3	140997262	140997262	+	Missense_Mutation	SNP	C	T	T	rs139938375		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:140997262C>T	uc003etu.2	+	5	457	c.158C>T	c.(157-159)ACG>ATG	p.T53M	ACPL2_uc003etv.2_Missense_Mutation_p.T53M|ACPL2_uc011bna.1_Missense_Mutation_p.T15M|ACPL2_uc011bnb.1_Missense_Mutation_p.T36M	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2 precursor	53						extracellular region	acid phosphatase activity			skin(1)	1																		---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141497514	141497514	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141497514G>A	uc011bnd.1	+	1	472	c.388G>A	c.(388-390)GTG>ATG	p.V130M		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	130	RGS.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5																		---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141499493	141499493	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141499493C>T	uc011bnd.1	+	2	974	c.890C>T	c.(889-891)TCG>TTG	p.S297L		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	297	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5																		---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141499584	141499584	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:141499584C>T	uc011bnd.1	+	2	1065	c.981C>T	c.(979-981)CTC>CTT	p.L327L		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	G-protein-coupled receptor kinase 7 precursor	327	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(2)|stomach(1)|ovary(1)|skin(1)	5																		---	---	---	---
PAQR9	344838	broad.mit.edu	37	3	142681261	142681261	+	Silent	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142681261A>T	uc003evg.2	-	1	918	c.918T>A	c.(916-918)ATT>ATA	p.I306I	PAQR9_uc003evf.1_RNA	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	306	Helical; (Potential).					integral to membrane	receptor activity				0																		---	---	---	---
SR140	23350	broad.mit.edu	37	3	142741404	142741404	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:142741404G>A	uc003evh.1	+	11	1017	c.918G>A	c.(916-918)ATG>ATA	p.M306I	SR140_uc003evi.1_Translation_Start_Site|SR140_uc011bnj.1_Missense_Mutation_p.M306I|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.M305I	NM_001080415	NP_001073884	O15042	SR140_HUMAN	U2-associated SR140 protein	306	RRM.				RNA processing	nucleus	nucleotide binding|RNA binding				0																		---	---	---	---
GPR87	53836	broad.mit.edu	37	3	151011954	151011954	+	3'UTR	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:151011954G>T	uc003eyt.2	-	3					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron	NM_023915	NP_076404			G protein-coupled receptor 87							integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)															---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154017706	154017706	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154017706C>T	uc003ezy.3	-	12	1551	c.1470G>A	c.(1468-1470)GCG>GCA	p.A490A	DHX36_uc010hvq.2_Silent_p.A490A|DHX36_uc003ezz.3_Silent_p.A490A	NM_020865	NP_065916	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	490	Helicase C-terminal.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157004347	157004347	+	Silent	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:157004347A>T	uc003fbj.1	-	12	2444	c.2127T>A	c.(2125-2127)ACT>ACA	p.T709T	VEPH1_uc003fbk.1_Silent_p.T709T|VEPH1_uc010hvu.1_Silent_p.T664T	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	709						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)															---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157004348	157004348	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:157004348G>T	uc003fbj.1	-	12	2443	c.2126C>A	c.(2125-2127)ACT>AAT	p.T709N	VEPH1_uc003fbk.1_Missense_Mutation_p.T709N|VEPH1_uc010hvu.1_Missense_Mutation_p.T664N	NM_024621	NP_078897	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain homolog 1	709						plasma membrane				breast(3)|ovary(1)|lung(1)	5			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)															---	---	---	---
PDCD10	11235	broad.mit.edu	37	3	167414792	167414792	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167414792G>A	uc003fex.2	-						PDCD10_uc003fez.2_Intron|PDCD10_uc003fey.2_Intron	NM_007217	NP_009148			programmed cell death 10						angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity	cytosol|Golgi membrane|plasma membrane	protein homodimerization activity|protein N-terminus binding			lung(1)|central_nervous_system(1)	2														Familial_Cerebral_Cavernous_Angioma				---	---	---	---
SERPINI1	5274	broad.mit.edu	37	3	167542311	167542311	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:167542311G>A	uc003ffa.3	+	8	1315	c.1117G>A	c.(1117-1119)GAC>AAC	p.D373N	SERPINI1_uc003ffb.3_Missense_Mutation_p.D373N	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN	neuroserpin precursor	373					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			skin(1)	1																		---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168833509	168833509	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:168833509C>T	uc003ffi.3	-	7	1856	c.1587G>A	c.(1585-1587)TCG>TCA	p.S529S	MECOM_uc010hwk.1_Silent_p.S552S|MECOM_uc003ffj.3_Silent_p.S594S|MECOM_uc011bpi.1_Silent_p.S530S|MECOM_uc003ffn.3_Silent_p.S529S|MECOM_uc003ffk.2_Silent_p.S529S|MECOM_uc003ffl.2_Silent_p.S689S|MECOM_uc011bpj.1_Silent_p.S717S|MECOM_uc011bpk.1_Silent_p.S519S|MECOM_uc010hwn.2_Silent_p.S717S	NM_005241	NP_005232	Q03112	EVI1_HUMAN	MDS1 and EVI1 complex locus isoform b	529					apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle	nuclear speck	DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1)	14																		---	---	---	---
SKIL	6498	broad.mit.edu	37	3	170102361	170102361	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170102361G>A	uc003fgu.2	+	4	1949	c.1237G>A	c.(1237-1239)GTG>ATG	p.V413M	SKIL_uc011bps.1_Missense_Mutation_p.V393M|SKIL_uc003fgv.2_Missense_Mutation_p.V413M|SKIL_uc003fgw.2_Missense_Mutation_p.V413M	NM_005414	NP_005405	P12757	SKIL_HUMAN	SKI-like isoform 1	413					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			ovary(2)|skin(1)	3	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)															---	---	---	---
SLC7A14	57709	broad.mit.edu	37	3	170198782	170198782	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170198782C>A	uc003fgz.2	-	7	1605	c.1289G>T	c.(1288-1290)CGA>CTA	p.R430L	CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	solute carrier family 7 (cationic amino acid	430						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)															---	---	---	---
TNIK	23043	broad.mit.edu	37	3	170784473	170784473	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:170784473C>A	uc003fhh.2	-	31	4096	c.3751G>T	c.(3751-3753)GGA>TGA	p.G1251*	TNIK_uc003fhi.2_Nonsense_Mutation_p.G1196*|TNIK_uc003fhj.2_Nonsense_Mutation_p.G1222*|TNIK_uc003fhk.2_Nonsense_Mutation_p.G1243*|TNIK_uc003fhl.2_Nonsense_Mutation_p.G1167*|TNIK_uc003fhm.2_Nonsense_Mutation_p.G1188*|TNIK_uc003fhn.2_Nonsense_Mutation_p.G1214*|TNIK_uc003fho.2_Nonsense_Mutation_p.G1159*|TNIK_uc003fhg.2_Nonsense_Mutation_p.G429*|TNIK_uc003fhp.2_Nonsense_Mutation_p.G183*	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase isoform 1	1251	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			ovary(4)|large_intestine(1)	5	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)															---	---	---	---
ECT2	1894	broad.mit.edu	37	3	172520688	172520688	+	Missense_Mutation	SNP	G	A	A	rs146823982		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172520688G>A	uc003fii.2	+	19	2069	c.1931G>A	c.(1930-1932)CGG>CAG	p.R644Q	ECT2_uc010hwv.1_Missense_Mutation_p.R675Q|ECT2_uc003fih.2_Missense_Mutation_p.R643Q|ECT2_uc003fij.1_Missense_Mutation_p.R644Q|ECT2_uc003fik.1_Missense_Mutation_p.R644Q|ECT2_uc003fil.1_Missense_Mutation_p.R675Q|ECT2_uc003fim.1_5'UTR	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	644	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(2)|ovary(1)|skin(1)	4	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)															---	---	---	---
SPATA16	83893	broad.mit.edu	37	3	172631534	172631534	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172631534G>A	uc003fin.3	-	10	1662	c.1504C>T	c.(1504-1506)CTG>TTG	p.L502L		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	502					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			ovary(2)|skin(1)	3	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)															---	---	---	---
ZMAT3	64393	broad.mit.edu	37	3	178785523	178785523	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178785523G>A	uc003fjg.2	-	2	277	c.18C>T	c.(16-18)CAC>CAT	p.H6H	ZMAT3_uc010hxa.2_Silent_p.H6H|ZMAT3_uc003fji.2_Silent_p.H6H	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	p53 target zinc finger protein isoform 1	6					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)															---	---	---	---
PEX5L	51555	broad.mit.edu	37	3	179525581	179525581	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179525581C>T	uc003fki.1	-	14	1687	c.1557G>A	c.(1555-1557)GCG>GCA	p.A519A	PEX5L_uc011bqd.1_Silent_p.A476A|PEX5L_uc011bqe.1_Silent_p.A327A|PEX5L_uc011bqf.1_Silent_p.A411A|PEX5L_uc003fkj.1_Silent_p.A484A|PEX5L_uc010hxd.1_Silent_p.A517A|PEX5L_uc011bqg.1_Silent_p.A495A|PEX5L_uc011bqh.1_Silent_p.A460A	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	519	TPR 4.				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			ovary(3)|large_intestine(1)	4	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)															---	---	---	---
ABCC5	10057	broad.mit.edu	37	3	183667837	183667837	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183667837G>A	uc003fmg.2	-	21	3186	c.3021C>T	c.(3019-3021)ATC>ATT	p.I1007I	ABCC5_uc011bqt.1_Silent_p.I535I|ABCC5_uc010hxl.2_Silent_p.I1007I	NM_005688	NP_005679	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C, member 5	1007	Helical; (Potential).|ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)	4	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)															---	---	---	---
DVL3	1857	broad.mit.edu	37	3	183888411	183888411	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183888411C>T	uc003fms.2	+	15	2159	c.2019C>T	c.(2017-2019)CCC>CCT	p.P673P	DVL3_uc011bqw.1_Silent_p.P656P|DVL3_uc003fmt.2_Silent_p.P344P|DVL3_uc003fmu.2_Silent_p.P505P	NM_004423	NP_004414	Q92997	DVL3_HUMAN	dishevelled 3	673					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			ovary(1)|lung(1)|breast(1)	3	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)															---	---	---	---
AP2M1	1173	broad.mit.edu	37	3	183898692	183898692	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:183898692G>A	uc011bqx.1	+	6	642	c.485G>A	c.(484-486)CGG>CAG	p.R162Q	AP2M1_uc003fmw.2_Missense_Mutation_p.R160Q|AP2M1_uc003fmx.2_Intron|AP2M1_uc003fmy.2_Missense_Mutation_p.R160Q|AP2M1_uc011bqy.1_Missense_Mutation_p.R32Q|AP2M1_uc011bqz.1_5'UTR	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	162					axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity				0	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184042671	184042671	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184042671G>A	uc003fnp.2	+	18	2823	c.2625G>A	c.(2623-2625)GAG>GAA	p.E875E	EIF4G1_uc003fno.1_Silent_p.E816E|EIF4G1_uc010hxw.1_Silent_p.E711E|EIF4G1_uc003fnt.2_Silent_p.E586E|EIF4G1_uc003fnq.2_Silent_p.E788E|EIF4G1_uc003fnr.2_Silent_p.E711E|EIF4G1_uc010hxx.2_Silent_p.E882E|EIF4G1_uc003fns.2_Silent_p.E835E|EIF4G1_uc010hxy.2_Silent_p.E882E|EIF4G1_uc003fnv.3_Silent_p.E876E|EIF4G1_uc003fnu.3_Silent_p.E875E|EIF4G1_uc003fnw.2_Silent_p.E882E|EIF4G1_uc003fnx.2_Silent_p.E680E|EIF4G1_uc003fny.3_Silent_p.E679E|SNORD66_uc003fnz.2_5'Flank	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4	875	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)															---	---	---	---
EPHB3	2049	broad.mit.edu	37	3	184298755	184298755	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184298755C>T	uc003foz.2	+							NM_004443	NP_004434			ephrin receptor EphB3 precursor							integral to plasma membrane	ATP binding|ephrin receptor activity			lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)															---	---	---	---
ATP13A5	344905	broad.mit.edu	37	3	193023408	193023408	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193023408G>C	uc011bsq.1	-	23	2618	c.2618C>G	c.(2617-2619)TCT>TGT	p.S873C		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	873					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)														---	---	---	---
TNK2	10188	broad.mit.edu	37	3	195595367	195595367	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195595367G>A	uc003fvu.1	-	12	2300	c.1757C>T	c.(1756-1758)GCG>GTG	p.A586V	TNK2_uc003fvq.1_5'UTR|TNK2_uc003fvr.1_Missense_Mutation_p.A111V|TNK2_uc003fvs.1_Missense_Mutation_p.A618V|TNK2_uc003fvt.1_Missense_Mutation_p.A664V|TNK2_uc010hzw.1_RNA|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2 isoform 1	586	Pro-rich.			Missing (in Ref. 4; AAH08884).|A -> P (in Ref. 1; AAA53570).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|central_nervous_system(3)|lung(2)|stomach(1)|skin(1)	10	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)													---	---	---	---
PCYT1A	5130	broad.mit.edu	37	3	195974305	195974305	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195974305C>T	uc003fwg.2	-	6	592	c.419G>A	c.(418-420)CGC>CAC	p.R140H	PCYT1A_uc003fwh.2_Missense_Mutation_p.R140H	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	140	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)													---	---	---	---
PCYT1A	5130	broad.mit.edu	37	3	195997296	195997296	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195997296C>T	uc003fwg.2	-	3	280	c.107G>A	c.(106-108)CGC>CAC	p.R36H	PCYT1A_uc003fwh.2_Missense_Mutation_p.R36H	NM_005017	NP_005008	P49585	PCY1A_HUMAN	choline phosphate cytidylyltransferase 1 alpha	36						cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity				0	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)													---	---	---	---
LRRC33	375387	broad.mit.edu	37	3	196387174	196387174	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196387174C>T	uc003fwv.2	+	3	764	c.660C>T	c.(658-660)ATC>ATT	p.I220I		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	leucine rich repeat containing 33 precursor	220	Extracellular (Potential).|LRR 7.					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)														---	---	---	---
PIGX	54965	broad.mit.edu	37	3	196449408	196449408	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196449408G>A	uc010iaj.2	+	3	457	c.176G>A	c.(175-177)CGA>CAA	p.R59Q	PIGX_uc003fwx.3_Missense_Mutation_p.R59Q|PIGX_uc011btx.1_RNA	NM_017861	NP_060331	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	100	Lumenal (Potential).				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane					0	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)														---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1018336	1018336	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1018336A>G	uc003gce.2	+	6	1117	c.956A>G	c.(955-957)TAC>TGC	p.Y319C	FGFRL1_uc003gcf.2_Missense_Mutation_p.Y319C|FGFRL1_uc003gcg.2_Missense_Mutation_p.Y319C|FGFRL1_uc010ibo.2_Missense_Mutation_p.Y319C	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	319	Ig-like C2-type 3.|Extracellular (Potential).				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0158)															---	---	---	---
KIAA1530	57654	broad.mit.edu	37	4	1360198	1360198	+	Missense_Mutation	SNP	G	A	A	rs140365902		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1360198G>A	uc003gde.3	+	8	1714	c.1267G>A	c.(1267-1269)GAC>AAC	p.D423N	KIAA1530_uc010ibv.2_5'UTR	NM_020894	NP_065945	Q2YD98	K1530_HUMAN	hypothetical protein LOC57654	423											0			OV - Ovarian serous cystadenocarcinoma(23;0.0138)															---	---	---	---
FAM53A	152877	broad.mit.edu	37	4	1643243	1643243	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1643243C>T	uc011bve.1	-	5	1172	c.974G>A	c.(973-975)TGT>TAT	p.C325Y	FAM53A_uc010ibw.2_3'UTR	NM_001013622	NP_001013644	Q6NSI3	FA53A_HUMAN	dorsal neural-tube nuclear protein	325						nucleus					0		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)															---	---	---	---
FGFR3	2261	broad.mit.edu	37	4	1809305	1809305	+	3'UTR	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1809305G>A	uc003gdr.3	+	18					FGFR3_uc003gdu.2_3'UTR|FGFR3_uc003gds.3_3'UTR|FGFR3_uc003gdq.3_3'UTR	NM_000142	NP_000133			fibroblast growth factor receptor 3 isoform 1						bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1)	2600		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)		1	Mis|T	IGH@|ETV6	bladder|MM|T-cell lymphoma		Hypochondroplasia|Thanatophoric dysplasia		Muenke_syndrome|Saethre-Chotzen_syndrome				---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1918627	1918627	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1918627G>A	uc003gdz.3	+	4	966	c.790G>A	c.(790-792)GTA>ATA	p.V264I	WHSC1_uc003geb.3_Missense_Mutation_p.V264I|WHSC1_uc003gec.3_Missense_Mutation_p.V264I|WHSC1_uc003ged.3_Missense_Mutation_p.V264I|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.V264I|WHSC1_uc003gdy.1_Missense_Mutation_p.V264I|WHSC1_uc010icd.1_Missense_Mutation_p.V264I|WHSC1_uc003gea.1_Missense_Mutation_p.V264I|WHSC1_uc010ice.1_Missense_Mutation_p.V264I|WHSC1_uc003geh.1_Missense_Mutation_p.V264I	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	264	PWWP 1.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)				T	IGH@	MM								---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1959771	1959771	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1959771G>A	uc003gdz.3	+						WHSC1_uc003geb.3_Intron|WHSC1_uc003gec.3_Intron|WHSC1_uc003ged.3_Intron|WHSC1_uc003gee.3_Intron|WHSC1_uc003gef.3_Intron|WHSC1_uc003gei.3_Intron|WHSC1_uc011bvh.1_Intron|WHSC1_uc010icf.2_Intron	NM_001042424	NP_001035889			Wolf-Hirschhorn syndrome candidate 1 protein						anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)				T	IGH@	MM								---	---	---	---
WHSC1	7468	broad.mit.edu	37	4	1962801	1962801	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1962801G>A	uc003gdz.3	+	18	3471	c.3295G>A	c.(3295-3297)GAG>AAG	p.E1099K	WHSC1_uc003geb.3_Missense_Mutation_p.E1099K|WHSC1_uc003gec.3_Missense_Mutation_p.E1099K|WHSC1_uc003ged.3_Missense_Mutation_p.E1099K|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.E318K|WHSC1_uc011bvh.1_Missense_Mutation_p.E160K|WHSC1_uc010icf.2_Missense_Mutation_p.E447K	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1 protein	1099	SET.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			ovary(3)|lung(3)|skin(2)|pancreas(1)	9		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)				T	IGH@	MM								---	---	---	---
WHSC2	7469	broad.mit.edu	37	4	1991424	1991424	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1991424C>T	uc003gem.2	-						WHSC2_uc003gel.2_Intron|WHSC2_uc003gen.2_Intron	NM_005663	NP_005654			Wolf-Hirschhorn syndrome candidate 2 protein						multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				skin(1)	1			OV - Ovarian serous cystadenocarcinoma(23;0.0155)															---	---	---	---
HAUS3	79441	broad.mit.edu	37	4	2240485	2240485	+	Missense_Mutation	SNP	G	A	A	rs148548454		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2240485G>A	uc003ges.1	-	3	1425	c.1195C>T	c.(1195-1197)CGG>TGG	p.R399W	POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Missense_Mutation_p.R399W|HAUS3_uc003get.1_Missense_Mutation_p.R399W	NM_024511	NP_078787	Q68CZ6	HAUS3_HUMAN	HAUS augmin-like complex, subunit 3	399	Potential.				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				large_intestine(2)|breast(2)	4																		---	---	---	---
HTT	3064	broad.mit.edu	37	4	3137631	3137631	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3137631G>A	uc011bvq.1	+	21	2785	c.2640G>A	c.(2638-2640)AGG>AGA	p.R880R		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	878					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)														---	---	---	---
HTT	3064	broad.mit.edu	37	4	3142344	3142344	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3142344C>T	uc011bvq.1	+	23	3057	c.2912C>T	c.(2911-2913)ACG>ATG	p.T971M		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	969					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)														---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3317958	3317958	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3317958C>T	uc003ggw.2	+	2	965	c.61C>T	c.(61-63)CGG>TGG	p.R21W	RGS12_uc003ggu.2_Missense_Mutation_p.R21W|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Missense_Mutation_p.R21W|RGS12_uc003ggx.1_Missense_Mutation_p.R21W	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	21						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3344688	3344688	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3344688G>T	uc003ggw.2	+	3	2810	c.1906G>T	c.(1906-1908)GGA>TGA	p.G636*	RGS12_uc003ggu.2_Nonsense_Mutation_p.G636*|RGS12_uc010ics.1_5'UTR|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Nonsense_Mutation_p.G636*|RGS12_uc003ggy.1_Nonsense_Mutation_p.G34*|RGS12_uc003ggx.1_Nonsense_Mutation_p.G636*	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	636						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4190647	4190647	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:4190647C>A	uc003ghp.1	-	6	1752	c.1722G>T	c.(1720-1722)GAG>GAT	p.E574D		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	574					biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---
TBC1D14	57533	broad.mit.edu	37	4	6925152	6925152	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6925152C>T	uc011bwg.1	+	2	115	c.36C>T	c.(34-36)GGC>GGT	p.G12G	TBC1D14_uc003gjs.3_Silent_p.G12G	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14 isoform a	12						intracellular	Rab GTPase activator activity			ovary(1)|pancreas(1)	2																		---	---	---	---
WDR1	9948	broad.mit.edu	37	4	10084764	10084764	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:10084764C>T	uc003gmf.2	-	10	1361	c.1078G>A	c.(1078-1080)GCT>ACT	p.A360T	WDR1_uc003gmg.2_Missense_Mutation_p.A220T|WDR1_uc010idm.2_RNA	NM_017491	NP_059830	O75083	WDR1_HUMAN	WD repeat-containing protein 1 isoform 1	360					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			ovary(2)|pancreas(1)	3				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)														---	---	---	---
HS3ST1	9957	broad.mit.edu	37	4	11401091	11401091	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:11401091C>G	uc003gmq.2	-	2	862	c.539G>C	c.(538-540)CGC>CCC	p.R180P		NM_005114	NP_005105	O14792	HS3S1_HUMAN	heparan sulfate D-glucosaminyl	180						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			skin(1)	1																		---	---	---	---
FGFBP2	83888	broad.mit.edu	37	4	15964408	15964408	+	Silent	SNP	G	A	A	rs141225215		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15964408G>A	uc003gon.2	-	1	452	c.345C>T	c.(343-345)TCC>TCT	p.S115S		NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	killer-specific secretory protein of 37 kDa	115						extracellular space	growth factor binding				0																		---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20482349	20482349	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20482349T>C	uc003gpr.1	+	6	682	c.478T>C	c.(478-480)TAC>CAC	p.Y160H	SLIT2_uc003gps.1_Missense_Mutation_p.Y160H	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	160	LRR 5.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22389934	22389934	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:22389934C>T	uc003gqm.1	-	19	3625	c.3360G>A	c.(3358-3360)GCG>GCA	p.A1120A	GPR125_uc010ieo.1_Silent_p.A976A|GPR125_uc003gql.1_Silent_p.A247A	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125 precursor	1120	Cytoplasmic (Potential).				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			skin(1)	1		Breast(46;0.198)																---	---	---	---
TLR1	7096	broad.mit.edu	37	4	38799468	38799468	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:38799468T>C	uc003gtl.2	-	4	1259	c.985A>G	c.(985-987)AAA>GAA	p.K329E		NM_003263	NP_003254	Q15399	TLR1_HUMAN	toll-like receptor 1 precursor	329	Extracellular (Potential).				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			lung(2)|skin(2)|prostate(1)	5																		---	---	---	---
RFC1	5981	broad.mit.edu	37	4	39306531	39306531	+	Silent	SNP	G	A	A	rs149366189		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:39306531G>A	uc003gty.1	-	15	2150	c.2016C>T	c.(2014-2016)TAC>TAT	p.Y672Y	RFC1_uc003gtx.1_Silent_p.Y671Y	NM_002913	NP_002904	P35251	RFC1_HUMAN	replication factor C large subunit	672					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---
UCHL1	7345	broad.mit.edu	37	4	41266131	41266131	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41266131C>T	uc003gvo.2	+	8	634	c.538C>T	c.(538-540)CCT>TCT	p.P180S	UCHL1_uc003gvp.2_Missense_Mutation_p.P99S|UCHL1_uc003gvq.2_Missense_Mutation_p.P99S|UCHL1_uc003gvr.2_Missense_Mutation_p.P99S|UCHL1_uc003gvs.2_Missense_Mutation_p.P99S	NM_004181	NP_004172	P09936	UCHL1_HUMAN	ubiquitin carboxyl-terminal esterase L1	180					cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus|plasma membrane	alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			central_nervous_system(1)|skin(1)	2																		---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42416687	42416687	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:42416687G>A	uc003gwr.2	-	36	3586	c.3354C>T	c.(3352-3354)CAC>CAT	p.H1118H	ATP8A1_uc003gwq.2_Silent_p.H344H|ATP8A1_uc003gws.2_Silent_p.H1103H	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT),	1118	Cytoplasmic (Potential).				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			skin(2)|central_nervous_system(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46264100	46264100	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:46264100C>T	uc003gxc.3	-	8	1575	c.902G>A	c.(901-903)CGG>CAG	p.R301Q	GABRA2_uc010igc.2_Missense_Mutation_p.R301Q|GABRA2_uc011bzc.1_Missense_Mutation_p.R246Q|GABRA2_uc003gxe.2_Missense_Mutation_p.R301Q	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN	gamma-aminobutyric acid A receptor, alpha 2	301					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)|skin(2)	4					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
CNGA1	1259	broad.mit.edu	37	4	47938555	47938555	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47938555C>T	uc003gxt.3	-	11	2222	c.1956G>A	c.(1954-1956)CAG>CAA	p.Q652Q	uc003gxr.1_Intron|CNGA1_uc003gxu.2_Silent_p.Q721Q	NM_000087	NP_000078	P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1 isoform	652	Cytoplasmic (Potential).				response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			ovary(2)	2																		---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55127488	55127488	+	Silent	SNP	G	A	A	rs140725151		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:55127488G>A	uc003han.3	+	3	607	c.276G>A	c.(274-276)GCG>GCA	p.A92A	PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Silent_p.A92A|PDGFRA_uc010igq.1_Intron|PDGFRA_uc003ham.2_RNA	NM_006206	NP_006197	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor alpha	92	Ig-like C2-type 1.|Extracellular (Potential).				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)			Mis|O|T	FIP1L1	GIST|idiopathic hypereosinophilic syndrome				Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	TSP Lung(21;0.16)			---	---	---	---
AASDH	132949	broad.mit.edu	37	4	57221419	57221419	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57221419A>G	uc003hbn.2	-	6	1185	c.1032T>C	c.(1030-1032)TAT>TAC	p.Y344Y	AASDH_uc010ihb.2_5'UTR|AASDH_uc011caa.1_Silent_p.Y191Y|AASDH_uc003hbo.2_Silent_p.Y244Y|AASDH_uc011cab.1_5'UTR|AASDH_uc010ihc.2_Silent_p.Y344Y|AASDH_uc003hbp.2_Silent_p.Y344Y	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	344					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			ovary(4)	4	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)																---	---	---	---
SRP72	6731	broad.mit.edu	37	4	57340271	57340271	+	Missense_Mutation	SNP	G	A	A	rs145817936	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57340271G>A	uc003hbv.2	+	4	446	c.406G>A	c.(406-408)GTC>ATC	p.V136I	SRP72_uc010ihe.2_Missense_Mutation_p.V136I|SRP72_uc003hbw.1_5'UTR	NM_006947	NP_008878	O76094	SRP72_HUMAN	signal recognition particle 72kDa	136	TPR 2.				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			ovary(1)	1	Glioma(25;0.08)|all_neural(26;0.101)																	---	---	---	---
REST	5978	broad.mit.edu	37	4	57797032	57797032	+	Missense_Mutation	SNP	G	A	A	rs145504954	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57797032G>A	uc003hch.2	+	4	2355	c.2008G>A	c.(2008-2010)GTG>ATG	p.V670M	REST_uc003hci.2_Missense_Mutation_p.V670M|REST_uc010ihf.2_Missense_Mutation_p.V344M	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	670	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)																	---	---	---	---
C4orf14	84273	broad.mit.edu	37	4	57829782	57829782	+	Missense_Mutation	SNP	C	T	T	rs150082024	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57829782C>T	uc003hck.2	-	7	2006	c.1931G>A	c.(1930-1932)CGA>CAA	p.R644Q		NM_032313	NP_115689	Q8NC60	CD014_HUMAN	hypothetical protein LOC84273	644							GTP binding			ovary(1)|breast(1)	2	Glioma(25;0.08)|all_neural(26;0.181)																	---	---	---	---
TMPRSS11F	389208	broad.mit.edu	37	4	68928756	68928756	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:68928756C>T	uc003hdt.1	-						LOC550112_uc003hdl.3_RNA|uc011cak.1_RNA|SYT14L_uc010ihn.2_RNA	NM_207407	NP_997290			transmembrane protease, serine 11F						proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			ovary(1)	1																		---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69179954	69179954	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69179954G>A	uc003hdx.2	-	17	2400	c.2047C>T	c.(2047-2049)CGG>TGG	p.R683W	YTHDC1_uc003hdy.2_Missense_Mutation_p.R665W	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	683	Arg-rich.									upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69180007	69180007	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69180007C>T	uc003hdx.2	-	17	2347	c.1994G>A	c.(1993-1995)CGT>CAT	p.R665H	YTHDC1_uc003hdy.2_Missense_Mutation_p.R647H	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	665	Arg-rich.									upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69185922	69185922	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:69185922G>A	uc003hdx.2	-	12	1956	c.1603C>T	c.(1603-1605)CGT>TGT	p.R535C	YTHDC1_uc003hdy.2_Missense_Mutation_p.R517C	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	splicing factor YT521-B isoform 1	535	Arg-rich.									upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
DCK	1633	broad.mit.edu	37	4	71889287	71889287	+	Missense_Mutation	SNP	C	A	A	rs139754308	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:71889287C>A	uc003hfx.2	+	4	701	c.413C>A	c.(412-414)GCA>GAA	p.A138E	DCK_uc011cbb.1_Missense_Mutation_p.A66E	NM_000788	NP_000779	P27707	DCK_HUMAN	deoxycytidine kinase	138					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			ovary(1)	1			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)													---	---	---	---
SLC4A4	8671	broad.mit.edu	37	4	72222907	72222907	+	Intron	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72222907A>G	uc003hfy.2	+						SLC4A4_uc010iic.2_Intron|SLC4A4_uc010iib.2_Intron|SLC4A4_uc003hfz.2_Intron|SLC4A4_uc003hgc.3_Intron|SLC4A4_uc003hga.2_Intron|SLC4A4_uc003hgb.3_Intron	NM_001098484	NP_001091954			solute carrier family 4, sodium bicarbonate							basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			ovary(3)|kidney(1)|skin(1)	5			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)															---	---	---	---
ADAMTS3	9508	broad.mit.edu	37	4	73414445	73414445	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:73414445G>A	uc003hgk.1	-	3	291	c.254C>T	c.(253-255)ACG>ATG	p.T85M		NM_014243	NP_055058	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1	85					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)	2			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)															---	---	---	---
PARM1	25849	broad.mit.edu	37	4	75937931	75937931	+	Missense_Mutation	SNP	G	A	A	rs34305542		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:75937931G>A	uc003hih.1	+	2	580	c.340G>A	c.(340-342)GGT>AGT	p.G114S		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	prostatic androgen-repressed message-1	114	Extracellular (Potential).				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				ovary(1)	1																		---	---	---	---
PPEF2	5470	broad.mit.edu	37	4	76797433	76797433	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:76797433C>T	uc003hix.2	-						PPEF2_uc003hiy.2_Intron|PPEF2_uc003hiz.1_Intron	NM_006239	NP_006230			serine/threonine protein phosphatase with						detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			ovary(2)|lung(1)|central_nervous_system(1)	4			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)															---	---	---	---
CNOT6L	246175	broad.mit.edu	37	4	78666019	78666019	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:78666019C>T	uc011ccd.1	-	7	701	c.570G>A	c.(568-570)ACG>ACA	p.T190T	CNOT6L_uc003hks.2_Silent_p.T190T|CNOT6L_uc003hkt.1_Silent_p.T33T|CNOT6L_uc011cce.1_Intron	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	190					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			large_intestine(1)	1																		---	---	---	---
FAM175A	84142	broad.mit.edu	37	4	84403394	84403394	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:84403394C>T	uc003hou.2	-	2	156	c.91G>A	c.(91-93)GGT>AGT	p.G31S	FAM175A_uc003hov.2_5'UTR	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	coiled-coil domain containing 98	31	MPN-like.				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			kidney(1)	1																		---	---	---	---
NKX6-1	4825	broad.mit.edu	37	4	85416952	85416952	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:85416952G>A	uc003hpa.1	-	2	722	c.716C>T	c.(715-717)ACG>ATG	p.T239M		NM_006168	NP_006159	P78426	NKX61_HUMAN	NK6 transcription factor related, locus 1	239	Homeobox.|Repressor domain (By similarity).				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus					0		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)														---	---	---	---
TMSL3	7117	broad.mit.edu	37	4	91760141	91760141	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:91760141C>T	uc003hsy.2	-	1	129	c.48G>A	c.(46-48)CCG>CCA	p.P16P	FAM190A_uc003hsv.3_Intron|FAM190A_uc010ikv.2_Intron|FAM190A_uc003hsx.2_Intron	NM_183049	NP_898870			thymosin-like 3												0		all_cancers(2;6.48e-24)|all_epithelial(2;3.86e-25)|Colorectal(2;8.52e-12)|all_lung(2;3.73e-07)|Lung NSC(2;7.99e-07)|Renal(2;0.0243)|Hepatocellular(203;0.0411)		Epithelial(2;5.28e-11)|OV - Ovarian serous cystadenocarcinoma(123;8.9e-10)|all cancers(2;3.21e-09)|STAD - Stomach adenocarcinoma(1;0.0201)														---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96469950	96469950	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96469950A>G	uc003htp.1	-	1	213	c.59T>C	c.(58-60)CTG>CCG	p.L20P	UNC5C_uc010ilc.1_Missense_Mutation_p.L20P|UNC5C_uc003htq.2_Missense_Mutation_p.L20P	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	20					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)														---	---	---	---
ADH1C	126	broad.mit.edu	37	4	100257923	100257923	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100257923C>T	uc003huu.2	-	11	1199	c.1114G>A	c.(1114-1116)GTC>ATC	p.V372I		NM_000669	NP_000660	P00326	ADH1G_HUMAN	class I alcohol dehydrogenase, gamma subunit	372					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)									Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				---	---	---	---
C4orf17	84103	broad.mit.edu	37	4	100463220	100463220	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:100463220A>G	uc003huw.2	+	9	1357	c.1034A>G	c.(1033-1035)AAC>AGC	p.N345S	C4orf17_uc003hux.2_RNA	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	hypothetical protein LOC84103	345											0				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)														---	---	---	---
PPP3CA	5530	broad.mit.edu	37	4	101947156	101947156	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:101947156G>A	uc011cen.1	-	14	2107	c.1432C>T	c.(1432-1434)CGA>TGA	p.R478*	PPP3CA_uc003hvu.2_Nonsense_Mutation_p.R468*|PPP3CA_uc010ilj.2_Nonsense_Mutation_p.R426*|PPP3CA_uc003hvt.2_Nonsense_Mutation_p.R455*|PPP3CA_uc003hvs.2_Nonsense_Mutation_p.R411*|PPP3CA_uc010ilk.2_Nonsense_Mutation_p.R246*	NM_000944	NP_000935	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha	478	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			ovary(1)|skin(1)	2				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)														---	---	---	---
NHEDC1	150159	broad.mit.edu	37	4	103822330	103822330	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:103822330G>A	uc003hww.2	-	12	1614	c.1492C>T	c.(1492-1494)CGC>TGC	p.R498C	NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Missense_Mutation_p.R271C	NM_139173	NP_631912	Q4ZJI4	NHDC1_HUMAN	Na+/H+ exchanger domain containing 1 isoform 1	498						integral to membrane	solute:hydrogen antiporter activity			ovary(1)|skin(1)	2		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;1.5e-08)														---	---	---	---
RRH	10692	broad.mit.edu	37	4	110754440	110754440	+	Silent	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:110754440C>A	uc003hzv.2	+	2	286	c.252C>A	c.(250-252)GCC>GCA	p.A84A		NM_006583	NP_006574	O14718	OPSX_HUMAN	peropsin	84	Helical; Name=2; (Potential).				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			ovary(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)														---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115997706	115997706	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:115997706C>T	uc003ibu.2	-	2	1166	c.487G>A	c.(487-489)GGT>AGT	p.G163S	NDST4_uc010imw.2_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	heparan sulfate N-deacetylase/N-sulfotransferase	163	Lumenal (Potential).|Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			skin(3)|ovary(1)	4		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)														---	---	---	---
PRSS12	8492	broad.mit.edu	37	4	119234410	119234410	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:119234410C>T	uc003ica.1	-	7	1482	c.1435G>A	c.(1435-1437)GAA>AAA	p.E479K		NM_003619	NP_003610	P56730	NETR_HUMAN	neurotrypsin precursor	479	SRCR 3.					membrane	scavenger receptor activity			skin(1)	1																		---	---	---	---
TRPC3	7222	broad.mit.edu	37	4	122853805	122853805	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:122853805C>A	uc003ieg.2	-	2	682	c.608G>T	c.(607-609)AGC>ATC	p.S203I	TRPC3_uc010inr.2_Missense_Mutation_p.S130I|TRPC3_uc003ief.2_Missense_Mutation_p.S130I|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	transient receptor potential cation channel,	118	Cytoplasmic (Potential).|ANK 3.				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			ovary(2)	2																		---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126239464	126239464	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:126239464G>A	uc003ifj.3	+	1	1898	c.1898G>A	c.(1897-1899)CGT>CAT	p.R633H		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	FAT tumor suppressor homolog 4 precursor	633	Extracellular (Potential).|Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18																		---	---	---	---
SLC25A31	83447	broad.mit.edu	37	4	128685410	128685410	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128685410T>C	uc003ifl.2	+	3	519	c.373T>C	c.(373-375)TTT>CTT	p.F125L		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier;	125	Helical; Name=3; (Potential).|Solcar 2.				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity				0																		---	---	---	---
HSPA4L	22824	broad.mit.edu	37	4	128726846	128726846	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:128726846C>T	uc003ifm.2	+	10	1395	c.1142C>T	c.(1141-1143)GCG>GTG	p.A381V	HSPA4L_uc010iny.1_Missense_Mutation_p.A340V|HSPA4L_uc011cgr.1_Missense_Mutation_p.A348V	NM_014278	NP_055093	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	381					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			ovary(2)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
SLC7A11	23657	broad.mit.edu	37	4	139101903	139101903	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:139101903G>A	uc011chb.1	-	10	1438	c.1158C>T	c.(1156-1158)GAC>GAT	p.D386D		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	solute carrier family 7, (cationic amino acid	386	Extracellular (Potential).				blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			skin(1)	1	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)													---	---	---	---
USP38	84640	broad.mit.edu	37	4	144134834	144134834	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:144134834G>T	uc003ijb.2	+	9	2239	c.1705G>T	c.(1705-1707)GCA>TCA	p.A569S	USP38_uc003ija.3_Missense_Mutation_p.A569S|USP38_uc003ijc.2_RNA	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	569					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)|breast(1)|pancreas(1)	5	all_hematologic(180;0.158)																	---	---	---	---
HHIP	64399	broad.mit.edu	37	4	145580917	145580917	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:145580917T>C	uc003ijs.1	+	4	1413	c.758T>C	c.(757-759)ATA>ACA	p.I253T	HHIP_uc003ijr.1_Missense_Mutation_p.I253T	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	hedgehog-interacting protein precursor	253						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)														---	---	---	---
ZNF827	152485	broad.mit.edu	37	4	146823705	146823705	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:146823705G>A	uc003ikn.2	-	2	754	c.706C>T	c.(706-708)CGA>TGA	p.R236*	ZNF827_uc003ikm.2_Nonsense_Mutation_p.R236*|ZNF827_uc010iox.2_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	zinc finger protein 827	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_hematologic(180;0.151)																	---	---	---	---
PRMT10	90826	broad.mit.edu	37	4	148594936	148594936	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:148594936C>T	uc003ilc.2	-	3	570	c.428G>A	c.(427-429)CGT>CAT	p.R143H	PRMT10_uc003ild.2_Missense_Mutation_p.R30H	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10	143						cytoplasm	binding|protein methyltransferase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
LRBA	987	broad.mit.edu	37	4	151392889	151392889	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:151392889C>T	uc010ipj.2	-	44	7061	c.6587G>A	c.(6586-6588)CGT>CAT	p.R2196H	LRBA_uc003ils.3_Missense_Mutation_p.R86H|LRBA_uc003ilt.3_Missense_Mutation_p.R844H|LRBA_uc003ilu.3_Missense_Mutation_p.R2185H	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	2196						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)																	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151656449	151656449	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:151656449C>T	uc010ipj.2	-	36	6189	c.5715G>A	c.(5713-5715)AGG>AGA	p.R1905R	LRBA_uc003ilt.3_Silent_p.R564R|LRBA_uc003ilu.3_Silent_p.R1905R	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	1905						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)																	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151818931	151818931	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:151818931C>T	uc010ipj.2	-	15	2438	c.1964G>A	c.(1963-1965)CGA>CAA	p.R655Q	LRBA_uc003ilu.3_Missense_Mutation_p.R655Q|LRBA_uc010ipk.1_Intron	NM_006726	NP_006717	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and	655						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			ovary(3)|breast(3)|skin(1)	7	all_hematologic(180;0.151)																	---	---	---	---
PET112L	5188	broad.mit.edu	37	4	152679925	152679925	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:152679925G>A	uc003iml.2	-	2	338	c.326C>T	c.(325-327)CCG>CTG	p.P109L	PET112L_uc003imm.3_Missense_Mutation_p.P109L	NM_004564	NP_004555	O75879	GATB_HUMAN	PET112-like precursor	109						mitochondrion	ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor|translation factor activity, nucleic acid binding				0	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)			L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)													---	---	---	---
TRIM2	23321	broad.mit.edu	37	4	154236715	154236715	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154236715C>T	uc003ing.2	+	7	1709	c.1508C>T	c.(1507-1509)GCA>GTA	p.A503V	TRIM2_uc003inh.2_Missense_Mutation_p.A530V	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN	tripartite motif-containing 2 isoform 2	503	NHL 1.					cytoplasm	zinc ion binding			central_nervous_system(1)	1	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)														---	---	---	---
KIAA0922	23240	broad.mit.edu	37	4	154519878	154519878	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154519878C>T	uc003inm.3	+	21	2309	c.2257C>T	c.(2257-2259)CGT>TGT	p.R753C	KIAA0922_uc010ipp.2_Missense_Mutation_p.R754C|KIAA0922_uc010ipq.2_Missense_Mutation_p.R522C	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	753	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)																---	---	---	---
KIAA0922	23240	broad.mit.edu	37	4	154523755	154523755	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:154523755G>A	uc003inm.3	+	23	2564	c.2512G>A	c.(2512-2514)GAC>AAC	p.D838N	KIAA0922_uc010ipp.2_Missense_Mutation_p.D839N|KIAA0922_uc010ipq.2_Missense_Mutation_p.D607N	NM_015196	NP_056011	A2VDJ0	T131L_HUMAN	hypothetical protein LOC23240 isoform 2	838	Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)	2	all_hematologic(180;0.093)	Renal(120;0.118)																---	---	---	---
GUCY1B3	2983	broad.mit.edu	37	4	156710921	156710921	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156710921C>A	uc003ipc.2	+	5	520	c.353C>A	c.(352-354)CCT>CAT	p.P118H	GUCY1B3_uc011cio.1_Missense_Mutation_p.P140H|GUCY1B3_uc011cip.1_Missense_Mutation_p.P98H|GUCY1B3_uc003ipd.2_Missense_Mutation_p.P46H|GUCY1B3_uc010iqf.2_Missense_Mutation_p.P118H|GUCY1B3_uc010iqg.2_Missense_Mutation_p.P46H|GUCY1B3_uc011ciq.1_Missense_Mutation_p.P46H	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	118					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)														---	---	---	---
TDO2	6999	broad.mit.edu	37	4	156841058	156841058	+	Silent	SNP	G	A	A	rs147390765	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:156841058G>A	uc003ipf.1	+	12	1201	c.1137G>A	c.(1135-1137)CCG>CCA	p.P379P		NM_005651	NP_005642	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	379					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity				0	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)													---	---	---	---
PDGFC	56034	broad.mit.edu	37	4	157684302	157684302	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:157684302G>A	uc003iph.1	-	6	1469	c.978C>T	c.(976-978)GAC>GAT	p.D326D	PDGFC_uc003ipi.1_Silent_p.D163D|PDGFC_uc011cis.1_Silent_p.D163D|PDGFC_uc011cir.1_Silent_p.D170D	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	platelet-derived growth factor C precursor	326					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			ovary(1)|lung(1)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)														---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158284024	158284024	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:158284024C>T	uc003ipm.3	+	15	2939	c.2480C>T	c.(2479-2481)GCA>GTA	p.A827V	GRIA2_uc011cit.1_Missense_Mutation_p.A780V|GRIA2_uc003ipl.3_Missense_Mutation_p.A827V|GRIA2_uc003ipk.3_Missense_Mutation_p.A780V|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2 isoform 2	827	Helical; (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)													---	---	---	---
ETFDH	2110	broad.mit.edu	37	4	159624729	159624729	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:159624729A>G	uc003iqb.2	+	10	1603	c.1271A>G	c.(1270-1272)CAA>CGA	p.Q424R	ETFDH_uc011cjg.1_Missense_Mutation_p.Q377R|ETFDH_uc010iqr.2_Missense_Mutation_p.Q21R|ETFDH_uc011cjh.1_Missense_Mutation_p.Q363R|ETFDH_uc010iqs.2_Missense_Mutation_p.Q346R	NM_004453	NP_004444	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	424					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			large_intestine(2)|skin(1)	3	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)														---	---	---	---
ENPP6	133121	broad.mit.edu	37	4	185012492	185012492	+	Silent	SNP	G	A	A	rs140544182	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185012492G>A	uc003iwc.2	-	8	1303	c.1161C>T	c.(1159-1161)GAC>GAT	p.D387D		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	387	Extracellular (Potential).				lipid catabolic process	extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)	1		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)														---	---	---	---
ENPP6	133121	broad.mit.edu	37	4	185033921	185033921	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:185033921G>A	uc003iwc.2	-	6	1039	c.897C>T	c.(895-897)TAC>TAT	p.Y299Y		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase	299	Extracellular (Potential).				lipid catabolic process	extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)	1		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)														---	---	---	---
ANKRD37	353322	broad.mit.edu	37	4	186318335	186318335	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186318335G>T	uc003ixm.2	+	2	297	c.59G>T	c.(58-60)GGG>GTG	p.G20V	LRP2BP_uc011ckr.1_5'Flank|ANKRD37_uc011cks.1_Missense_Mutation_p.G20V	NM_181726	NP_859077	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37	20	ANK 1.					cytoplasm|nucleus					0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)														---	---	---	---
ANKRD37	353322	broad.mit.edu	37	4	186318402	186318402	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186318402C>T	uc003ixm.2	+	2	364	c.126C>T	c.(124-126)GGC>GGT	p.G42G	LRP2BP_uc011ckr.1_5'Flank|ANKRD37_uc011cks.1_Silent_p.G42G	NM_181726	NP_859077	Q7Z713	ANR37_HUMAN	ankyrin repeat domain 37	42	ANK 2.					cytoplasm|nucleus					0		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.27e-25)|Epithelial(43;1.02e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.14e-11)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000118)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|COAD - Colon adenocarcinoma(29;0.00939)|READ - Rectum adenocarcinoma(43;0.155)														---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186544615	186544615	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186544615G>A	uc003iyl.2	-	13	2814	c.1956C>T	c.(1954-1956)CAC>CAT	p.H652H	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Silent_p.H752H|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Silent_p.H556H|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Silent_p.H766H|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	652	His-rich.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)														---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186545198	186545198	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:186545198C>T	uc003iyl.2	-	13	2231	c.1373G>A	c.(1372-1374)CGC>CAC	p.R458H	SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.R558H|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.R362H|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.R572H|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2 isoform 2	458						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			ovary(1)	1		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)														---	---	---	---
F11	2160	broad.mit.edu	37	4	187197457	187197457	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187197457C>T	uc003iza.1	+	7	1001	c.668C>T	c.(667-669)GCT>GTT	p.A223V		NM_000128	NP_000119	P03951	FA11_HUMAN	coagulation factor XI precursor	223	Apple 3.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity				0		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)													---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187531035	187531035	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187531035C>T	uc003izf.2	-	15	10176	c.9988G>A	c.(9988-9990)GAT>AAT	p.D3330N		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	3330	Extracellular (Potential).|Cadherin 30.				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															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187540073	187540073	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187540073C>T	uc003izf.2	-	10	7855	c.7667G>A	c.(7666-7668)CGA>CAA	p.R2556Q		NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	2556	Extracellular (Potential).|Cadherin 23.				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															HNSCC(5;0.00058)			---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187627747	187627747	+	Missense_Mutation	SNP	C	T	T	rs143694311	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:187627747C>T	uc003izf.2	-	2	3423	c.3235G>A	c.(3235-3237)GTT>ATT	p.V1079I	FAT1_uc010iso.1_Missense_Mutation_p.V1079I	NM_005245	NP_005236	Q14517	FAT1_HUMAN	FAT tumor suppressor 1 precursor	1079	Extracellular (Potential).|Cadherin 9.				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															HNSCC(5;0.00058)			---	---	---	---
TRIML2	205860	broad.mit.edu	37	4	189020185	189020185	+	Intron	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:189020185T>C	uc003izl.2	-						TRIML2_uc003izj.1_Intron|TRIML2_uc003izk.1_Intron|TRIML2_uc011cle.1_Intron|TRIML2_uc011clf.1_Missense_Mutation_p.R209G	NM_173553	NP_775824			tripartite motif family-like 2								ligase activity			central_nervous_system(2)	2		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)														---	---	---	---
SDHA	6389	broad.mit.edu	37	5	231070	231070	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:231070G>T	uc003jao.3	+	7	965	c.850G>T	c.(850-852)GGC>TGC	p.G284C	SDHA_uc003jan.2_Missense_Mutation_p.G284C|SDHA_uc011clv.1_Missense_Mutation_p.G284C|SDHA_uc011clw.1_Missense_Mutation_p.G236C|SDHA_uc003jap.3_Missense_Mutation_p.G284C|SDHA_uc003jaq.3_Missense_Mutation_p.G59C|SDHA_uc003jar.3_Translation_Start_Site	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	284					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)									Familial_Paragangliomas				---	---	---	---
SDHA	6389	broad.mit.edu	37	5	233710	233710	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:233710G>A	uc003jao.3	+	8	1129	c.1014G>A	c.(1012-1014)GCG>GCA	p.A338A	SDHA_uc003jan.2_Silent_p.A338A|SDHA_uc011clv.1_Silent_p.A338A|SDHA_uc011clw.1_Silent_p.A290A|SDHA_uc003jap.3_Silent_p.A338A|SDHA_uc003jaq.3_Silent_p.A113A|SDHA_uc003jar.3_5'UTR	NM_004168	NP_004159	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A,	338					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity				0			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)									Familial_Paragangliomas				---	---	---	---
SLC12A7	10723	broad.mit.edu	37	5	1074767	1074767	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1074767C>T	uc003jbu.2	-	16	2053	c.1987G>A	c.(1987-1989)GAT>AAT	p.D663N		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride	663					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			skin(2)|large_intestine(1)|ovary(1)	4	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)													---	---	---	---
TERT	7015	broad.mit.edu	37	5	1268637	1268637	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1268637G>A	uc003jcb.1	-	9	2638	c.2580C>T	c.(2578-2580)GAC>GAT	p.D860D	TERT_uc003jbz.1_Silent_p.D56D|TERT_uc003jca.1_Silent_p.D848D|TERT_uc003jcc.1_Silent_p.D860D|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	NM_198253	NP_937983	O14746	TERT_HUMAN	telomerase reverse transcriptase isoform 1	860	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)											TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic				---	---	---	---
SLC6A3	6531	broad.mit.edu	37	5	1441511	1441511	+	Silent	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1441511C>A	uc003jck.2	-	3	502	c.381G>T	c.(379-381)GGG>GGT	p.G127G		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	127					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)													---	---	---	---
KIAA0947	23379	broad.mit.edu	37	5	5476148	5476148	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:5476148C>T	uc003jdm.3	+	17	6698	c.6476C>T	c.(6475-6477)GCG>GTG	p.A2159V		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	hypothetical protein LOC23379	2159										ovary(1)|central_nervous_system(1)	2																		---	---	---	---
PAPD7	11044	broad.mit.edu	37	5	6739923	6739923	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:6739923C>T	uc003jdx.1	+	4	345	c.216C>T	c.(214-216)AAC>AAT	p.N72N	PAPD7_uc011cmn.1_Silent_p.N63N	NM_006999	NP_008930	Q5XG87	PAPD7_HUMAN	DNA polymerase sigma	72					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			ovary(1)	1																		---	---	---	---
FASTKD3	79072	broad.mit.edu	37	5	7866895	7866895	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7866895G>A	uc003jeb.2	-	2	1439	c.1302C>T	c.(1300-1302)AAC>AAT	p.N434N	FASTKD3_uc011cmp.1_Silent_p.N136N|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	434					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			ovary(2)|breast(1)|pancreas(1)	4																		---	---	---	---
MTRR	4552	broad.mit.edu	37	5	7873574	7873574	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:7873574T>G	uc003jed.2	+	3	329	c.299T>G	c.(298-300)GTT>GGT	p.V100G	MTRR_uc010itn.1_Intron|MTRR_uc003jee.3_Missense_Mutation_p.V73G|MTRR_uc003jef.3_RNA|MTRR_uc003jeg.3_Intron|MTRR_uc010ito.2_RNA	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	methionine synthase reductase isoform 2	100	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			ovary(1)	1					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)													---	---	---	---
SEMA5A	9037	broad.mit.edu	37	5	9136623	9136623	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:9136623G>A	uc003jek.2	-	13	2304	c.1592C>T	c.(1591-1593)GCG>GTG	p.A531V		NM_003966	NP_003957	Q13591	SEM5A_HUMAN	semaphorin 5A precursor	531	Extracellular (Potential).				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10377927	10377927	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10377927C>T	uc003jet.1	+	2	220	c.37C>T	c.(37-39)CGG>TGG	p.R13W	MARCH6_uc011cmu.1_Missense_Mutation_p.R13W|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Intron	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	13	Cytoplasmic (Potential).|RING-CH-type.				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|breast(1)	2																		---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11117589	11117589	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:11117589C>T	uc003jfa.1	-	13	2395	c.2250G>A	c.(2248-2250)GCG>GCA	p.A750A	CTNND2_uc010itt.2_Silent_p.A659A|CTNND2_uc011cmy.1_Silent_p.A413A|CTNND2_uc011cmz.1_Silent_p.A317A|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.A317A	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	750	ARM 6.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8																		---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13792325	13792325	+	Silent	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13792325A>T	uc003jfd.2	-	50	8268	c.8226T>A	c.(8224-8226)GGT>GGA	p.G2742G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2742	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---
FAM105A	54491	broad.mit.edu	37	5	14602314	14602314	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14602314G>A	uc003jfj.2	+	5	484	c.371G>A	c.(370-372)CGG>CAG	p.R124Q		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	hypothetical protein LOC54491	124										ovary(1)	1	Lung NSC(4;0.00592)																	---	---	---	---
FBXL7	23194	broad.mit.edu	37	5	15928282	15928282	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:15928282C>T	uc003jfn.1	+	3	892	c.411C>T	c.(409-411)TGC>TGT	p.C137C		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	137	F-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3																		---	---	---	---
FBXL7	23194	broad.mit.edu	37	5	15928344	15928344	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:15928344G>A	uc003jfn.1	+	3	954	c.473G>A	c.(472-474)CGC>CAC	p.R158H		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	158					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3																		---	---	---	---
FBXL7	23194	broad.mit.edu	37	5	15937192	15937192	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:15937192C>T	uc003jfn.1	+	4	1854	c.1373C>T	c.(1372-1374)ACG>ATG	p.T458M		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	458	LRR 11.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3																		---	---	---	---
FBXL7	23194	broad.mit.edu	37	5	15937211	15937211	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:15937211C>T	uc003jfn.1	+	4	1873	c.1392C>T	c.(1390-1392)TGC>TGT	p.C464C		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	464					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3																		---	---	---	---
MYO10	4651	broad.mit.edu	37	5	16675074	16675074	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16675074G>A	uc003jft.3	-	35	5320	c.4852C>T	c.(4852-4854)CCC>TCC	p.P1618S	MYO10_uc011cnb.1_Missense_Mutation_p.P247S|MYO10_uc011cnc.1_Missense_Mutation_p.P497S|MYO10_uc011cnd.1_Missense_Mutation_p.P975S|MYO10_uc011cne.1_Missense_Mutation_p.P975S|MYO10_uc010itx.2_Missense_Mutation_p.P1240S	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	myosin X	1618	MyTH4.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			ovary(2)|pancreas(1)	3																		---	---	---	---
BASP1	10409	broad.mit.edu	37	5	17275821	17275821	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:17275821G>A	uc003jfx.2	+	2	675	c.496G>A	c.(496-498)GGG>AGG	p.G166R		NM_006317	NP_006308	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein	166					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding				0																		---	---	---	---
RNASEN	29102	broad.mit.edu	37	5	31493322	31493322	+	Missense_Mutation	SNP	G	T	T	rs61354118	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31493322G>T	uc003jhg.2	-	12	2193	c.1834C>A	c.(1834-1836)CTG>ATG	p.L612M	RNASEN_uc003jhh.2_Missense_Mutation_p.L575M|RNASEN_uc003jhi.2_Missense_Mutation_p.L575M|RNASEN_uc010iui.1_Missense_Mutation_p.L535M	NM_013235	NP_037367	Q9NRR4	RNC_HUMAN	ribonuclease III, nuclear isoform 1	612	Necessary for interaction with DGCR8 and pri-miRNA processing activity.			L -> P (in Ref. 3; CAB45133).	gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity				0																		---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33527391	33527391	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:33527391C>T	uc003jia.1	-	24	4850	c.4687G>A	c.(4687-4689)GTG>ATG	p.V1563M	ADAMTS12_uc010iuq.1_Missense_Mutation_p.V1478M	NM_030955	NP_112217	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1563	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9															HNSCC(64;0.19)			---	---	---	---
SLC1A3	6507	broad.mit.edu	37	5	36686195	36686195	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36686195C>T	uc003jkj.3	+	10	1929	c.1453C>T	c.(1453-1455)CTG>TTG	p.L485L	SLC1A3_uc011cox.1_Silent_p.L378L|SLC1A3_uc010iuy.2_Silent_p.L440L	NM_004172	NP_004163	P43003	EAA1_HUMAN	solute carrier family 1 (glial high affinity	485					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity				0	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)													---	---	---	---
EGFLAM	133584	broad.mit.edu	37	5	38438444	38438444	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38438444C>T	uc003jlc.1	+	17	2675	c.2351C>T	c.(2350-2352)GCG>GTG	p.A784V	EGFLAM_uc003jlb.1_Missense_Mutation_p.A784V|EGFLAM_uc003jle.1_Missense_Mutation_p.A550V|EGFLAM_uc003jlf.1_Missense_Mutation_p.A150V	NM_152403	NP_689616	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G	784	Laminin G-like 2.|EGF-like 3.					cell junction|proteinaceous extracellular matrix|synapse				pancreas(3)|skin(3)|ovary(1)	7	all_lung(31;0.000385)																	---	---	---	---
OSMR	9180	broad.mit.edu	37	5	38924544	38924544	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38924544G>A	uc003jln.1	+	14	2258	c.1891G>A	c.(1891-1893)GTG>ATG	p.V631M	OSMR_uc011cpj.1_Translation_Start_Site	NM_003999	NP_003990	Q99650	OSMR_HUMAN	oncostatin M receptor precursor	631	Fibronectin type-III 4.|Extracellular (Potential).				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5	all_lung(31;0.000365)																	---	---	---	---
RICTOR	253260	broad.mit.edu	37	5	38945825	38945825	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38945825A>G	uc003jlp.2	-	34	4425	c.4401T>C	c.(4399-4401)GGT>GGC	p.G1467G	RICTOR_uc003jlo.2_Silent_p.G1491G|RICTOR_uc010ivf.2_Intron	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	rapamycin-insensitive companion of mTOR	1467					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1)	10	all_lung(31;0.000396)																	---	---	---	---
OXCT1	5019	broad.mit.edu	37	5	41842798	41842798	+	Missense_Mutation	SNP	C	T	T	rs142383658	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:41842798C>T	uc003jmn.2	-	6	981	c.650G>A	c.(649-651)CGA>CAA	p.R217Q		NM_000436	NP_000427	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1 precursor	217					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			ovary(2)|large_intestine(1)	3					Succinic acid(DB00139)													---	---	---	---
C5orf39	389289	broad.mit.edu	37	5	43039821	43039821	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43039821C>T	uc003jnf.2	-	1	627	c.328G>A	c.(328-330)GCA>ACA	p.A110T	C5orf39_uc010ivj.1_RNA|LOC153684_uc003jng.2_5'Flank|LOC153684_uc003jni.2_5'Flank	NM_001014279	NP_001014301	Q3ZCQ2	AX2R_HUMAN	annexin II receptor	110							receptor activity				0																OREG0016598	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ZNF131	7690	broad.mit.edu	37	5	43161499	43161499	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43161499G>A	uc011cpw.1	+	5	556	c.520G>A	c.(520-522)GAA>AAA	p.E174K	ZNF131_uc010ivl.1_Missense_Mutation_p.E174K|ZNF131_uc003jnj.3_5'UTR|ZNF131_uc003jnk.2_Missense_Mutation_p.E174K|ZNF131_uc003jnn.3_5'UTR|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	zinc finger protein 131	174						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF131	7690	broad.mit.edu	37	5	43161698	43161698	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:43161698C>T	uc011cpw.1	+	5	755	c.719C>T	c.(718-720)ACG>ATG	p.T240M	ZNF131_uc010ivl.1_Missense_Mutation_p.T240M|ZNF131_uc003jnj.3_Translation_Start_Site|ZNF131_uc003jnk.2_Missense_Mutation_p.T240M|ZNF131_uc003jnn.3_Translation_Start_Site|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron	NM_003432	NP_003423	P52739	ZN131_HUMAN	zinc finger protein 131	240						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ITGA2	3673	broad.mit.edu	37	5	52361675	52361675	+	Missense_Mutation	SNP	T	C	C	rs146738092	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52361675T>C	uc003joy.2	+	15	1954	c.1811T>C	c.(1810-1812)ATC>ACC	p.I604T	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.I528T|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	604	FG-GAP 7.|Extracellular (Potential).				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			lung(1)	1		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)																---	---	---	---
GPX8	493869	broad.mit.edu	37	5	54459987	54459987	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:54459987A>G	uc003jpq.2	+	3	608	c.571A>G	c.(571-573)AGG>GGG	p.R191G	CDC20B_uc003jpn.1_Intron|CDC20B_uc010ivu.1_Intron|CDC20B_uc003jpo.1_Intron|CDC20B_uc010ivv.1_Intron|CDC20B_uc003jpp.2_Intron|GPX8_uc003jpr.2_3'UTR|GPX8_uc003jps.2_RNA|GPX8_uc003jpt.2_Missense_Mutation_p.R140G	NM_001008397	NP_001008398	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8	191					response to oxidative stress	integral to membrane	glutathione peroxidase activity				0					Glutathione(DB00143)													---	---	---	---
IL31RA	133396	broad.mit.edu	37	5	55202092	55202092	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:55202092G>A	uc003jql.2	+	9	1293	c.1228G>A	c.(1228-1230)GCC>ACC	p.A410T	IL31RA_uc003jqk.2_Missense_Mutation_p.A410T|IL31RA_uc011cqj.1_Missense_Mutation_p.A268T|IL31RA_uc003jqm.2_Missense_Mutation_p.A378T|IL31RA_uc003jqn.2_Missense_Mutation_p.A410T|IL31RA_uc010iwa.1_Missense_Mutation_p.A378T|IL31RA_uc003jqo.2_Missense_Mutation_p.A268T	NM_139017	NP_620586	Q8NI17	IL31R_HUMAN	gp130-like monocyte receptor	378	Extracellular (Potential).|Fibronectin type-III 4.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			ovary(1)	1		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)																---	---	---	---
ERCC8	1161	broad.mit.edu	37	5	60195512	60195512	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:60195512T>C	uc003jsm.3	-	8	730	c.660A>G	c.(658-660)TCA>TCG	p.S220S	ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Silent_p.S162S|ERCC8_uc011cqp.1_Silent_p.S67S	NM_000082	NP_000073	Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent	220					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding				0		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)											Direct_reversal_of_damage|NER					---	---	---	---
MARVELD2	153562	broad.mit.edu	37	5	68715902	68715902	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:68715902G>A	uc003jwq.2	+	2	749	c.690G>A	c.(688-690)CCG>CCA	p.P230P	MARVELD2_uc010ixf.2_Silent_p.P230P|MARVELD2_uc003jwr.1_Silent_p.P230P|MARVELD2_uc003jws.1_RNA	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2 isoform 1	230	MARVEL.|Helical; (Potential).				sensory perception of sound	integral to membrane|tight junction					0		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)														---	---	---	---
TMEM171	134285	broad.mit.edu	37	5	72419288	72419288	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:72419288G>A	uc003kcm.2	+	2	292	c.88G>A	c.(88-90)GCC>ACC	p.A30T	TMEM171_uc003kcn.3_Missense_Mutation_p.A30T	NM_173490	NP_775761	Q8WVE6	TM171_HUMAN	transmembrane protein 171 isoform 1	30	Helical; (Potential).					integral to membrane					0		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)														---	---	---	---
IQGAP2	10788	broad.mit.edu	37	5	75989260	75989260	+	Missense_Mutation	SNP	C	T	T	rs148122303		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:75989260C>T	uc003kek.2	+	31	4208	c.3986C>T	c.(3985-3987)GCG>GTG	p.A1329V	IQGAP2_uc011csv.1_Missense_Mutation_p.A825V|IQGAP2_uc003kel.2_Missense_Mutation_p.A825V|IQGAP2_uc010izw.1_Missense_Mutation_p.A30V	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1329					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)														---	---	---	---
ARSB	411	broad.mit.edu	37	5	78076234	78076234	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78076234C>T	uc003kfq.2	-	8	2874	c.1588G>A	c.(1588-1590)GGC>AGC	p.G530S		NM_000046	NP_000037	P15848	ARSB_HUMAN	arylsulfatase B isoform 1 precursor	530					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			upper_aerodigestive_tract(1)	1		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)														---	---	---	---
BHMT2	23743	broad.mit.edu	37	5	78376543	78376543	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78376543G>A	uc003kft.2	+	4	315	c.292G>A	c.(292-294)GCC>ACC	p.A98T	BHMT2_uc011cth.1_Intron	NM_017614	NP_060084	Q9H2M3	BHMT2_HUMAN	betaine-homocysteine methyltransferase 2	98	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)													---	---	---	---
BHMT	635	broad.mit.edu	37	5	78416205	78416205	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:78416205C>T	uc003kfu.3	+	4	423	c.318C>T	c.(316-318)ATC>ATT	p.I106I	BHMT_uc011cti.1_Intron	NM_001713	NP_001704	Q93088	BHMT1_HUMAN	betaine-homocysteine methyltransferase	106	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			ovary(1)	1		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)													---	---	---	---
CMYA5	202333	broad.mit.edu	37	5	79028806	79028806	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79028806T>C	uc003kgc.2	+	2	4290	c.4218T>C	c.(4216-4218)TCT>TCC	p.S1406S		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1406						perinuclear region of cytoplasm				ovary(6)|pancreas(2)|lung(1)	9		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)														---	---	---	---
ZFYVE16	9765	broad.mit.edu	37	5	79733734	79733734	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:79733734A>G	uc003kgr.3	+	4	1532	c.1230A>G	c.(1228-1230)GCA>GCG	p.A410A	ZFYVE16_uc010jak.1_Silent_p.A410A|ZFYVE16_uc003kgp.2_Silent_p.A410A|ZFYVE16_uc003kgq.3_Silent_p.A410A|ZFYVE16_uc003kgs.3_Silent_p.A410A	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	410					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity				0		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)														---	---	---	---
ACOT12	134526	broad.mit.edu	37	5	80641746	80641746	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:80641746C>T	uc003khl.3	-	7	786	c.731G>A	c.(730-732)CGT>CAT	p.R244H	RNU5E_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	244	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			ovary(1)|kidney(1)	2		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)														---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86674344	86674344	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:86674344C>T	uc003kiw.2	+	18	2594	c.2476C>T	c.(2476-2478)CAG>TAG	p.Q826*	RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.Q649*|RASA1_uc011ctv.1_Nonsense_Mutation_p.Q659*|RASA1_uc011ctw.1_Nonsense_Mutation_p.Q660*|RASA1_uc010jaw.2_Nonsense_Mutation_p.Q648*	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	826	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(3)|ovary(1)|lung(1)	5		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)														---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89947441	89947441	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89947441T>C	uc003kju.2	+	18	3406	c.3310T>C	c.(3310-3312)TAT>CAT	p.Y1104H	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1104	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
GPR98	84059	broad.mit.edu	37	5	89954001	89954001	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:89954001G>A	uc003kju.2	+	21	4754	c.4658G>A	c.(4657-4659)CGT>CAT	p.R1553H	GPR98_uc003kjt.2_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	1553	Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---
POU5F2	134187	broad.mit.edu	37	5	93076968	93076968	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:93076968G>A	uc003kkl.1	-	1	342	c.302C>T	c.(301-303)CCG>CTG	p.P101L	FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	101						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)														---	---	---	---
TSSK1B	83942	broad.mit.edu	37	5	112769899	112769899	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112769899G>T	uc003kqm.2	-	1	830	c.638C>A	c.(637-639)TCC>TAC	p.S213Y	MCC_uc003kql.3_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1	213	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|skin(2)|stomach(1)	5		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)														---	---	---	---
AQPEP	206338	broad.mit.edu	37	5	115320327	115320327	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:115320327C>T	uc003kro.2	+	3	1063	c.899C>T	c.(898-900)ACG>ATG	p.T300M	AQPEP_uc003krp.2_RNA	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	laeverin	300	Lumenal (Potential).				proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding				0																		---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127647028	127647028	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:127647028C>A	uc003kuu.2	-	39	5477	c.5038G>T	c.(5038-5040)GGC>TGC	p.G1680C		NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	1680	EGF-like 27; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)														---	---	---	---
IL3	3562	broad.mit.edu	37	5	131396447	131396447	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131396447C>T	uc003kwe.1	+	1	101	c.48C>T	c.(46-48)CCC>CCT	p.P16P		NM_000588	NP_000579	P08700	IL3_HUMAN	interleukin 3 precursor	16					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding	p.P16L(1)		ovary(2)|central_nervous_system(1)	3		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)													---	---	---	---
RAD50	10111	broad.mit.edu	37	5	131930741	131930741	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131930741G>A	uc003kxi.2	+						RAD50_uc003kxh.2_Intron	NM_005732	NP_005723			RAD50 homolog isoform 1						DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			lung(2)|ovary(1)|skin(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)										Homologous_recombination					---	---	---	---
IL13	3596	broad.mit.edu	37	5	131993925	131993925	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131993925C>T	uc003kxj.1	+	1	61	c.47C>T	c.(46-48)GCG>GTG	p.A16V		NM_002188	NP_002179	P35225	IL13_HUMAN	interleukin 13 precursor	16					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			ovary(1)|skin(1)	2		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)													OREG0003464	type=REGULATORY REGION|Gene=IL13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	---	---	---	---
AFF4	27125	broad.mit.edu	37	5	132232832	132232832	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:132232832G>T	uc003kyd.2	-	11	1898	c.1490C>A	c.(1489-1491)CCA>CAA	p.P497Q	AFF4_uc011cxk.1_Missense_Mutation_p.P175Q|AFF4_uc003kye.1_Missense_Mutation_p.P497Q	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	ALL1 fused gene from 5q31	497					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity			ovary(2)|kidney(2)|skin(1)	5		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)															---	---	---	---
TGFBI	7045	broad.mit.edu	37	5	135382999	135382999	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:135382999G>A	uc003lbf.3	+	6	822	c.661G>A	c.(661-663)GAC>AAC	p.D221N	TGFBI_uc003lbg.3_5'UTR|TGFBI_uc003lbh.3_Missense_Mutation_p.D47N|TGFBI_uc011cyb.1_Missense_Mutation_p.D47N|TGFBI_uc010jed.2_5'Flank	NM_000358	NP_000349	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	221	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(3)|ovary(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
TRPC7	57113	broad.mit.edu	37	5	135692997	135692997	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:135692997G>A	uc003lbn.1	-	1	79	c.76C>T	c.(76-78)CGG>TGG	p.R26W	TRPC7_uc010jef.1_Missense_Mutation_p.R18W|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.R18W|TRPC7_uc010jei.1_Missense_Mutation_p.R18W|TRPC7_uc010jej.1_5'UTR	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel,	27	Cytoplasmic (Potential).				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)															---	---	---	---
BRD8	10902	broad.mit.edu	37	5	137506848	137506848	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137506848G>A	uc003lcf.1	-	5	293	c.238C>T	c.(238-240)CGG>TGG	p.R80W	BRD8_uc003lcc.1_RNA|BRD8_uc003lcg.2_Missense_Mutation_p.R80W|BRD8_uc003lci.2_Missense_Mutation_p.R80W|BRD8_uc003lch.2_Translation_Start_Site|BRD8_uc011cym.1_Missense_Mutation_p.R64W|BRD8_uc010jer.1_Missense_Mutation_p.R49W|BRD8_uc011cyn.1_Missense_Mutation_p.R39W|BRD8_uc010jes.1_Translation_Start_Site	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8 isoform 2	80					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---
MATR3	9782	broad.mit.edu	37	5	138650433	138650433	+	Intron	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:138650433T>C	uc003ldu.2	+						MATR3_uc010jfb.2_Intron|MATR3_uc003ldt.2_Intron|MATR3_uc003ldw.2_Intron|MATR3_uc003ldx.2_Intron|MATR3_uc010jfc.2_Intron|MATR3_uc003ldy.2_5'UTR|MATR3_uc011czb.1_Intron|MATR3_uc003ldz.2_Intron|MATR3_uc003lea.2_Intron|MATR3_uc003leb.2_Intron|MATR3_uc003lec.2_5'UTR	NM_199189	NP_954659			matrin 3							nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140209019	140209019	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140209019T>C	uc003lho.2	+	1	1370	c.1343T>C	c.(1342-1344)ATG>ACG	p.M448T	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_Missense_Mutation_p.M448T|PCDHA6_uc011dab.1_Missense_Mutation_p.M448T	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	448	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA6	56142	broad.mit.edu	37	5	140209848	140209848	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140209848G>A	uc003lho.2	+	1	2199	c.2172G>A	c.(2170-2172)TCG>TCA	p.S724S	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Silent_p.S724S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6 isoform 1 precursor	724	Cytoplasmic (Potential).				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140215905	140215905	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140215905G>A	uc003lhq.2	+	1	1937	c.1937G>A	c.(1936-1938)CGC>CAC	p.R646H	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_uc011dac.1_Missense_Mutation_p.R646H	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7 isoform 1 precursor	646	Cadherin 6.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(2)|skin(2)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA8	56140	broad.mit.edu	37	5	140222139	140222139	+	Silent	SNP	C	T	T	rs147149527	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140222139C>T	uc003lhs.2	+	1	1233	c.1233C>T	c.(1231-1233)AGC>AGT	p.S411S	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_uc003lhr.1_Silent_p.S411S	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8 isoform 1 precursor	411	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			upper_aerodigestive_tract(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140229442	140229442	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140229442G>A	uc003lhu.2	+	1	2086	c.1362G>A	c.(1360-1362)GCG>GCA	p.A454A	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_uc003lht.1_Silent_p.A454A	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	454	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140229458	140229458	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140229458T>C	uc003lhu.2	+	1	2102	c.1378T>C	c.(1378-1380)TAC>CAC	p.Y460H	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_uc003lht.1_Missense_Mutation_p.Y460H	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9 isoform 1 precursor	460	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			large_intestine(2)|ovary(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140256399	140256399	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140256399G>A	uc003lic.2	+	1	1469	c.1342G>A	c.(1342-1344)GTG>ATG	p.V448M	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.V448M	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12 isoform 1 precursor	448	Cadherin 4.|Extracellular (Potential).				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)															---	---	---	---
PCDHB2	56133	broad.mit.edu	37	5	140475611	140475611	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140475611C>T	uc003lil.2	+	1	1375	c.1237C>T	c.(1237-1239)CGG>TGG	p.R413W	PCDHB2_uc003lim.1_Missense_Mutation_p.R74W	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2 precursor	413	Extracellular (Potential).|Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			ovary(3)|upper_aerodigestive_tract(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB4	56131	broad.mit.edu	37	5	140503193	140503193	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140503193C>T	uc003lip.1	+	1	1613	c.1613C>T	c.(1612-1614)CCG>CTG	p.P538L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4 precursor	538	Cadherin 5.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB5	26167	broad.mit.edu	37	5	140516326	140516326	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140516326C>T	uc003liq.2	+	1	1527	c.1310C>T	c.(1309-1311)ACG>ATG	p.T437M		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5 precursor	437	Cadherin 4.|Extracellular (Potential).				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			skin(3)|ovary(2)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB7	56129	broad.mit.edu	37	5	140554050	140554050	+	Missense_Mutation	SNP	C	T	T	rs148889209		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140554050C>T	uc003lit.2	+	1	1808	c.1634C>T	c.(1633-1635)GCG>GTG	p.A545V		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7 precursor	545	Extracellular (Potential).|Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|central_nervous_system(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB11	56125	broad.mit.edu	37	5	140580140	140580140	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140580140T>G	uc003liy.2	+	1	793	c.793T>G	c.(793-795)TCA>GCA	p.S265A	PCDHB11_uc011daj.1_5'UTR	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11 precursor	265	Extracellular (Potential).|Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)															---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140589821	140589821	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140589821G>A	uc003liz.2	+	1	1531	c.1342G>A	c.(1342-1344)GCC>ACC	p.A448T	PCDHB12_uc011dak.1_Missense_Mutation_p.A111T	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12 precursor	448	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)															---	---	---	---
SLC25A2	83884	broad.mit.edu	37	5	140683405	140683405	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140683405C>T	uc003ljf.2	-	1	208	c.28G>A	c.(28-30)GCC>ACC	p.A10T		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 member 2	10	Helical; Name=1; (Potential).|Solcar 1.				mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			ovary(1)	1		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)													---	---	---	---
PCDHGA2	56113	broad.mit.edu	37	5	140720625	140720625	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140720625C>T	uc003ljk.1	+	1	2272	c.2087C>T	c.(2086-2088)GCG>GTG	p.A696V	PCDHGA1_uc003lji.1_Intron|PCDHGA3_uc003ljm.1_5'Flank|PCDHGA3_uc010jfx.1_5'Flank|PCDHGA2_uc011dao.1_Missense_Mutation_p.A696V|PCDHGA3_uc011dap.1_5'Flank	NM_018915	NP_061738	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2 isoform 1	696	Helical; (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			skin(2)|ovary(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA4	56111	broad.mit.edu	37	5	140735325	140735325	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140735325C>T	uc003ljq.1	+	1	558	c.558C>T	c.(556-558)GCC>GCT	p.A186A	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljp.1_Silent_p.A186A	NM_018917	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4 isoform 1	186	Extracellular (Potential).|Cadherin 2.				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)															---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140751489	140751489	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140751489C>T	uc003ljw.1	+	1	1528	c.1528C>T	c.(1528-1530)CGG>TGG	p.R510W	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|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R510W|PCDHGA6_uc011dau.1_5'Flank	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3 isoform 1	510	Extracellular (Potential).|Cadherin 5.				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)															---	---	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140762611	140762611	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140762611G>A	uc003lka.1	+	1	145	c.145G>A	c.(145-147)GCC>ACC	p.A49T	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_uc003ljz.1_Missense_Mutation_p.A49T	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	49	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGA7	56108	broad.mit.edu	37	5	140763255	140763255	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140763255G>A	uc003lka.1	+	1	789	c.789G>A	c.(787-789)ACG>ACA	p.T263T	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_uc003ljz.1_Silent_p.T263T	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7 isoform 1	263	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDHGB5	56101	broad.mit.edu	37	5	140779562	140779562	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140779562G>A	uc003lkf.1	+	1	1868	c.1868G>A	c.(1867-1869)CGC>CAC	p.R623H	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_uc011daw.1_Missense_Mutation_p.R623H|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	protocadherin gamma subfamily B, 5 isoform 1	623	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)															---	---	---	---
PCDHGC5	56097	broad.mit.edu	37	5	140890602	140890602	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140890602C>T	uc003lla.1	+	4	2697	c.2697C>T	c.(2695-2697)CAC>CAT	p.H899H	PCDHGA1_uc003lji.1_Silent_p.H886H|PCDHGA2_uc003ljk.1_Silent_p.H887H|PCDHGA3_uc003ljm.1_Silent_p.H887H|PCDHGA3_uc010jfx.1_Silent_p.H647H|PCDHGB1_uc003ljo.1_Silent_p.H882H|PCDHGA4_uc003ljq.1_Silent_p.H886H|PCDHGB2_uc003ljs.1_Silent_p.H886H|PCDHGA5_uc003lju.1_Silent_p.H886H|PCDHGB3_uc003ljw.1_Silent_p.H884H|PCDHGA6_uc003ljy.1_Silent_p.H887H|PCDHGA7_uc003lka.1_Silent_p.H887H|PCDHGB4_uc003lkc.1_Silent_p.H878H|PCDHGA8_uc003lkd.1_Silent_p.H887H|PCDHGB5_uc003lkf.1_Silent_p.H878H|PCDHGA9_uc003lkh.1_Silent_p.H887H|PCDHGB6_uc003lkj.1_Silent_p.H885H|PCDHGA10_uc003lkl.1_Silent_p.H891H|PCDHGB7_uc003lkn.1_Silent_p.H884H|PCDHGA11_uc003lkp.1_Silent_p.H705H|PCDHGA11_uc003lkq.1_Silent_p.H890H|PCDHGA12_uc003lkt.1_Silent_p.H887H|PCDHGC3_uc003lkv.1_Silent_p.H889H|PCDHGC3_uc003lkw.1_Silent_p.H89H|PCDHGC4_uc003lky.1_Silent_p.H893H	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5 isoform 1	899	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(3)	3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141242997	141242997	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141242997G>A	uc003llq.2	-	3	3016	c.2899C>T	c.(2899-2901)CGC>TGC	p.R967C	PCDH1_uc003llp.2_Missense_Mutation_p.R967C|PCDH1_uc011dbf.1_Missense_Mutation_p.R945C	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	protocadherin 1 isoform 1 precursor	967	Cytoplasmic (Potential).				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			ovary(5)	5		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)														---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141325259	141325259	+	Missense_Mutation	SNP	G	A	A	rs149567898		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141325259G>A	uc003llx.2	-	4	4453	c.3242C>T	c.(3241-3243)ACG>ATG	p.T1081M		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	1081	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PCDH12	51294	broad.mit.edu	37	5	141325309	141325309	+	Silent	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:141325309G>T	uc003llx.2	-	4	4403	c.3192C>A	c.(3190-3192)CCC>CCA	p.P1064P		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	protocadherin 12 precursor	1064	Cytoplasmic (Potential).				neuron recognition	integral to plasma membrane	calcium ion binding			ovary(3)	3		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
SPINK5	11005	broad.mit.edu	37	5	147492431	147492431	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:147492431C>G	uc003lox.2	+	20	1894	c.1821C>G	c.(1819-1821)TTC>TTG	p.F607L	SPINK5_uc010jgs.1_Missense_Mutation_p.F579L|SPINK5_uc010jgr.2_Missense_Mutation_p.F588L|SPINK5_uc003low.2_Missense_Mutation_p.F607L|SPINK5_uc003loy.2_Missense_Mutation_p.F607L	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5 isoform	607	Kazal-like 9.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)|breast(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---
PDE6A	5145	broad.mit.edu	37	5	149323840	149323840	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149323840C>T	uc003lrg.3	-	1	517	c.397G>A	c.(397-399)GTC>ATC	p.V133I		NM_000440	NP_000431	P16499	PDE6A_HUMAN	phosphodiesterase 6A	133	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)															---	---	---	---
SYNPO	11346	broad.mit.edu	37	5	150029294	150029294	+	Missense_Mutation	SNP	G	A	A	rs138664774		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150029294G>A	uc003lsn.2	+	3	2563	c.2189G>A	c.(2188-2190)CGC>CAC	p.R730H	SYNPO_uc003lso.3_Missense_Mutation_p.R486H|SYNPO_uc003lsp.2_Missense_Mutation_p.R486H	NM_001109974	NP_001103444	Q8N3V7	SYNPO_HUMAN	synaptopodin isoform B	730					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			large_intestine(1)	1		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---
GPX3	2878	broad.mit.edu	37	5	150407078	150407078	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:150407078T>C	uc011dcm.1	+	5	662	c.445T>C	c.(445-447)TAC>CAC	p.Y149H	GPX3_uc003ltc.2_RNA|GPX3_uc003ltd.2_RNA	NM_002084	NP_002075	P22352	GPX3_HUMAN	glutathione peroxidase 3 precursor	149					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding				0		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)													---	---	---	---
SPARC	6678	broad.mit.edu	37	5	151045951	151045951	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:151045951G>A	uc003luh.2	-	7	729	c.705C>T	c.(703-705)TTC>TTT	p.F235F	GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_Silent_p.F69F|SPARC_uc003lui.2_Silent_p.F235F	NM_003118	NP_003109	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich	235					ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding			central_nervous_system(1)	1		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	Becaplermin(DB00102)													---	---	---	---
C5orf4	10826	broad.mit.edu	37	5	154199997	154199997	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:154199997T>A	uc003lvs.3	-	9	1052	c.881A>T	c.(880-882)GAC>GTC	p.D294V	C5orf4_uc003lvq.2_5'Flank|C5orf4_uc003lvr.2_Missense_Mutation_p.T34S|C5orf4_uc011dde.1_Missense_Mutation_p.D271V	NM_032385	NP_115761	Q96IV6	CE004_HUMAN	hypothetical protein LOC10826	294					fatty acid biosynthetic process	integral to membrane	iron ion binding|oxidoreductase activity			ovary(1)	1	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)															---	---	---	---
HAVCR1	26762	broad.mit.edu	37	5	156482446	156482446	+	Missense_Mutation	SNP	T	C	C	rs141773914	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156482446T>C	uc010jij.1	-	3	330	c.145A>G	c.(145-147)AGA>GGA	p.R49G	HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.R49G|HAVCR1_uc011ddm.1_Missense_Mutation_p.R49G	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	49	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
ADAM19	8728	broad.mit.edu	37	5	156918839	156918839	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156918839G>A	uc003lwz.2	-						ADAM19_uc003lww.1_Intron|ADAM19_uc003lwy.2_Intron|ADAM19_uc011ddr.1_Intron	NM_033274	NP_150377			ADAM metallopeptidase domain 19 preproprotein						proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---
EBF1	1879	broad.mit.edu	37	5	158140003	158140003	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:158140003G>A	uc010jip.2	-	13	1646	c.1344C>T	c.(1342-1344)TCC>TCT	p.S448S	EBF1_uc011ddw.1_Silent_p.S316S|EBF1_uc011ddx.1_Silent_p.S449S|EBF1_uc003lxl.3_Silent_p.S417S	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	448					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)					T	HMGA2	lipoma								---	---	---	---
FABP6	2172	broad.mit.edu	37	5	159665630	159665630	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:159665630C>T	uc003lya.1	+	4	479	c.351C>T	c.(349-351)GGC>GGT	p.G117G	FABP6_uc003lxx.1_Silent_p.G166G|FABP6_uc003lxz.1_Silent_p.G166G	NM_001445	NP_001436	P51161	FABP6_HUMAN	gastrotropin isoform 2	117					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity				0	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
C5orf54	63920	broad.mit.edu	37	5	159821324	159821324	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:159821324G>A	uc003lye.1	-	2	1638	c.1174C>T	c.(1174-1176)CAG>TAG	p.Q392*	C5orf54_uc003lyf.1_Nonsense_Mutation_p.Q392*	NM_022090	NP_071373	Q8IZ13	CE054_HUMAN	transposon-derived Buster3 transposase-like	392										pancreas(1)	1																		---	---	---	---
ATP10B	23120	broad.mit.edu	37	5	160033840	160033840	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:160033840G>A	uc003lym.1	-	19	3939	c.3092C>T	c.(3091-3093)ACG>ATG	p.T1031M	ATP10B_uc010jit.1_Missense_Mutation_p.T348M	NM_025153	NP_079429	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1031	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(3)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)															---	---	---	---
ODZ2	57451	broad.mit.edu	37	5	167674043	167674043	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167674043C>T	uc010jjd.2	+	27	6072	c.6072C>T	c.(6070-6072)TAC>TAT	p.Y2024Y	ODZ2_uc003lzr.3_Silent_p.Y1794Y|ODZ2_uc003lzt.3_Silent_p.Y1397Y|ODZ2_uc010jje.2_Silent_p.Y1288Y	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)														---	---	---	---
ODZ2	57451	broad.mit.edu	37	5	167674297	167674297	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167674297G>A	uc010jjd.2	+	27	6326	c.6326G>A	c.(6325-6327)CGC>CAC	p.R2109H	ODZ2_uc003lzr.3_Missense_Mutation_p.R1879H|ODZ2_uc003lzt.3_Missense_Mutation_p.R1482H|ODZ2_uc010jje.2_Missense_Mutation_p.R1373H	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)														---	---	---	---
ODZ2	57451	broad.mit.edu	37	5	167689674	167689674	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167689674C>T	uc010jjd.2	+	29	8157	c.8157C>T	c.(8155-8157)GGC>GGT	p.G2719G	ODZ2_uc003lzr.3_Silent_p.G2489G|ODZ2_uc003lzt.3_Silent_p.G2092G|ODZ2_uc010jje.2_Silent_p.G1983G	NM_001122679	NP_001116151			odz, odd Oz/ten-m homolog 2											ovary(6)|central_nervous_system(4)	10	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)														---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168112863	168112863	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:168112863G>T	uc003mab.2	-	31	3804	c.3384C>A	c.(3382-3384)TGC>TGA	p.C1128*	SLIT3_uc010jjg.2_Nonsense_Mutation_p.C1135*	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1128	EGF-like 6.				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)															---	---	---	---
SLIT3	6586	broad.mit.edu	37	5	168112913	168112913	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:168112913G>A	uc003mab.2	-	31	3754	c.3334C>T	c.(3334-3336)CCC>TCC	p.P1112S	SLIT3_uc010jjg.2_Missense_Mutation_p.P1119S	NM_003062	NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 precursor	1112					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)															---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170337986	170337986	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170337986C>A	uc003mba.2	+	7	624	c.608C>A	c.(607-609)CCT>CAT	p.P203H	RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA|RANBP17_uc003maw.2_3'UTR|RANBP17_uc011dew.1_Missense_Mutation_p.P203H	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	203					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)					T	TRD@	ALL								---	---	---	---
RANBP17	64901	broad.mit.edu	37	5	170345805	170345805	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170345805T>C	uc003mba.2	+	10	1059	c.1043T>C	c.(1042-1044)GTG>GCG	p.V348A	RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	348					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			ovary(2)|central_nervous_system(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)					T	TRD@	ALL								---	---	---	---
FGF18	8817	broad.mit.edu	37	5	170883784	170883784	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:170883784G>A	uc003mbk.2	+	5	1136	c.599G>A	c.(598-600)CGG>CAG	p.R200Q		NM_003862	NP_003853	O76093	FGF18_HUMAN	fibroblast growth factor 18 precursor	200					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding				0	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)															---	---	---	---
ERGIC1	57222	broad.mit.edu	37	5	172315747	172315747	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:172315747G>A	uc003mbw.3	+	2	260	c.66G>A	c.(64-66)ACG>ACA	p.T22T		NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate	22	Cytoplasmic (Potential).				ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			skin(2)|ovary(1)	3	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)															---	---	---	---
CPEB4	80315	broad.mit.edu	37	5	173317681	173317681	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:173317681A>G	uc003mcs.3	+	1	2351	c.945A>G	c.(943-945)CGA>CGG	p.R315R	CPEB4_uc010jju.1_Silent_p.R315R|CPEB4_uc010jjv.2_Silent_p.R315R|CPEB4_uc011dfg.1_Silent_p.R315R|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding	315							nucleotide binding|RNA binding				0	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)															---	---	---	---
EIF4E1B	253314	broad.mit.edu	37	5	176070674	176070674	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176070674C>T	uc010jkf.1	+	5	819	c.235C>T	c.(235-237)CGG>TGG	p.R79W		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	eukaryotic translation initiation factor 4E	79					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity				0	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
UNC5A	90249	broad.mit.edu	37	5	176301281	176301281	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176301281C>T	uc003mey.2	+	8	1284	c.1092C>T	c.(1090-1092)CTC>CTT	p.L364L	UNC5A_uc010jkg.1_Silent_p.L324L	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	netrin receptor Unc5h1 precursor	364	Cytoplasmic (Potential).				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				skin(1)	1	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
HK3	3101	broad.mit.edu	37	5	176323157	176323157	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176323157C>T	uc003mfa.2	-	2	96	c.4G>A	c.(4-6)GAC>AAC	p.D2N		NM_002115	NP_002106	P52790	HXK3_HUMAN	hexokinase 3	2	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
FGFR4	2264	broad.mit.edu	37	5	176519354	176519354	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176519354G>A	uc003mfl.2	+	7	927	c.760G>A	c.(760-762)GGG>AGG	p.G254R	FGFR4_uc003mfm.2_Missense_Mutation_p.G254R|FGFR4_uc011dfu.1_Missense_Mutation_p.G254R|FGFR4_uc011dfw.1_Missense_Mutation_p.G254R|FGFR4_uc003mfo.2_Missense_Mutation_p.G254R	NM_002011	NP_002002	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4 isoform 1	254	Extracellular (Potential).|Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1)	16	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	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)		Palifermin(DB00039)										TSP Lung(9;0.080)			---	---	---	---
FAM193B	54540	broad.mit.edu	37	5	176952097	176952097	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:176952097C>T	uc003mhs.3	-	8	2875	c.1286G>A	c.(1285-1287)CGG>CAG	p.R429Q	FAM193B_uc003mhr.2_5'UTR|FAM193B_uc003mht.2_Missense_Mutation_p.R88Q|FAM193B_uc003mhu.2_Missense_Mutation_p.R141Q|FAM193B_uc003mhv.2_Missense_Mutation_p.R88Q|FAM193B_uc003mhw.2_RNA	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN	hypothetical protein LOC54540	462											0																		---	---	---	---
ZNF354A	6940	broad.mit.edu	37	5	178139553	178139553	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178139553T>C	uc003mjj.2	-	5	1524	c.1326A>G	c.(1324-1326)GAA>GAG	p.E442E		NM_005649	NP_005640	O60765	Z354A_HUMAN	zinc finger protein 354A	442	C2H2-type 8.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|skin(1)	3	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)														---	---	---	---
GRM6	2916	broad.mit.edu	37	5	178416364	178416364	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178416364C>T	uc003mjr.2	-	5	1234	c.1055G>A	c.(1054-1056)CGC>CAC	p.R352H	GRM6_uc010jla.1_5'UTR|GRM6_uc003mjs.1_5'UTR	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	352	Extracellular (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)														---	---	---	---
TBC1D9B	23061	broad.mit.edu	37	5	179300246	179300246	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179300246T>C	uc003mlh.2	-	13	2226	c.2189A>G	c.(2188-2190)TAC>TGC	p.Y730C	TBC1D9B_uc003mli.2_Missense_Mutation_p.Y730C|TBC1D9B_uc003mlj.2_Missense_Mutation_p.Y730C|TBC1D9B_uc003mlg.2_5'Flank|TBC1D9B_uc011dgv.1_5'Flank|TBC1D9B_uc011dgw.1_5'Flank|TBC1D9B_uc003mlk.1_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	730						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	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)															---	---	---	---
TBC1D9B	23061	broad.mit.edu	37	5	179301925	179301925	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:179301925G>A	uc003mlh.2	-	12	2200	c.2163C>T	c.(2161-2163)GGC>GGT	p.G721G	TBC1D9B_uc003mli.2_Silent_p.G721G|TBC1D9B_uc003mlj.2_Silent_p.G721G|TBC1D9B_uc011dgv.1_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	721						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(1)|skin(1)	2	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)															---	---	---	---
BTNL8	79908	broad.mit.edu	37	5	180377103	180377103	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180377103C>T	uc003mmp.2	+	8	1296	c.1062C>T	c.(1060-1062)CGC>CGT	p.R354R	BTNL8_uc003mmq.2_3'UTR|BTNL8_uc011dhg.1_Silent_p.R229R|BTNL8_uc010jll.2_3'UTR|BTNL8_uc010jlm.2_Silent_p.R238R|BTNL8_uc011dhh.1_Silent_p.R170R	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8 isoform 2 precursor	354	B30.2/SPRY.|Cytoplasmic (Potential).					integral to membrane				upper_aerodigestive_tract(1)|skin(1)	2	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
BTNL9	153579	broad.mit.edu	37	5	180475228	180475228	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180475228C>T	uc003mmt.2	+	3	642	c.411C>T	c.(409-411)TCC>TCT	p.S137S	BTNL9_uc011dhi.1_Silent_p.S68S	NM_152547	NP_689760	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9 precursor	137	Extracellular (Potential).					integral to membrane				ovary(1)|central_nervous_system(1)	2	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---
SERPINB9	5272	broad.mit.edu	37	6	2892130	2892130	+	Silent	SNP	G	T	T	rs61748573	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:2892130G>T	uc003mug.2	-	6	781	c.660C>A	c.(658-660)CCC>CCA	p.P220P	uc003mue.2_Intron|SERPINB9_uc003muf.2_Silent_p.P23P	NM_004155	NP_004146	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B, member 9	220					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.108)																---	---	---	---
SERPINB6	5269	broad.mit.edu	37	6	2948609	2948609	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:2948609C>T	uc003muk.2	-	6	3049	c.1054G>A	c.(1054-1056)GAC>AAC	p.D352N	SERPINB6_uc003mui.2_Missense_Mutation_p.D235N|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.D352N|SERPINB6_uc003mum.2_Missense_Mutation_p.D352N|SERPINB6_uc003mun.2_Missense_Mutation_p.D352N|SERPINB6_uc003muo.2_Missense_Mutation_p.D352N	NM_004568	NP_004559	P35237	SPB6_HUMAN	serine (or cysteine) proteinase inhibitor, clade	352					regulation of proteolysis	centrosome|cytosol|protein complex	protease binding|serine-type endopeptidase inhibitor activity				0	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)													---	---	---	---
SLC22A23	63027	broad.mit.edu	37	6	3273285	3273285	+	3'UTR	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:3273285C>T	uc003mvm.3	-	10					uc003mvi.1_Intron|SLC22A23_uc003mvn.3_3'UTR|SLC22A23_uc003mvo.3_3'UTR|SLC22A23_uc003mvp.1_RNA	NM_015482	NP_056297			solute carrier family 22, member 23 isoform a						ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)																---	---	---	---
SLC22A23	63027	broad.mit.edu	37	6	3273472	3273472	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:3273472C>T	uc003mvm.3	-	10	1878	c.1878G>A	c.(1876-1878)CTG>CTA	p.L626L	uc003mvi.1_Intron|SLC22A23_uc003mvn.3_Silent_p.L345L|SLC22A23_uc003mvo.3_Silent_p.L345L|SLC22A23_uc003mvp.1_RNA	NM_015482	NP_056297	A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23 isoform a	626					ion transport	integral to membrane	transmembrane transporter activity			ovary(1)	1	Ovarian(93;0.0493)	all_hematologic(90;0.0905)																---	---	---	---
C6orf145	221749	broad.mit.edu	37	6	3737419	3737419	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:3737419C>T	uc003mvt.2	-	3	841	c.360G>A	c.(358-360)TCG>TCA	p.S120S		NM_183373	NP_899229	Q5TGL8	CF145_HUMAN	hypothetical protein LOC221749	120	PX.				cell communication		phosphatidylinositol binding			breast(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)																---	---	---	---
F13A1	2162	broad.mit.edu	37	6	6167822	6167822	+	Missense_Mutation	SNP	C	T	T	rs138754417	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:6167822C>T	uc003mwv.2	-	13	1900	c.1777G>A	c.(1777-1779)GGC>AGC	p.G593S	F13A1_uc011dib.1_Missense_Mutation_p.G530S	NM_000129	NP_000120	P00488	F13A_HUMAN	coagulation factor XIII A1 subunit precursor	593					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)													---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7189437	7189437	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7189437G>A	uc003mxc.2	+	6	697	c.307G>A	c.(307-309)GGA>AGA	p.G103R	RREB1_uc010jnw.2_Missense_Mutation_p.G103R|RREB1_uc003mxb.2_Missense_Mutation_p.G103R|RREB1_uc010jnx.2_Missense_Mutation_p.G103R|RREB1_uc003mxd.2_Missense_Mutation_p.G103R	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	103	C2H2-type 2.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)																---	---	---	---
RREB1	6239	broad.mit.edu	37	6	7229901	7229901	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7229901G>A	uc003mxc.2	+	10	1959	c.1569G>A	c.(1567-1569)ACG>ACA	p.T523T	RREB1_uc003mxb.2_Silent_p.T523T|RREB1_uc010jnx.2_Silent_p.T523T	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	523	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)																---	---	---	---
DSP	1832	broad.mit.edu	37	6	7575663	7575663	+	Nonsense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7575663G>T	uc003mxp.1	+	18	2851	c.2572G>T	c.(2572-2574)GAA>TAA	p.E858*	DSP_uc003mxq.1_Nonsense_Mutation_p.E858*	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	858	Globular 1.|Spectrin 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)														---	---	---	---
DSP	1832	broad.mit.edu	37	6	7575669	7575669	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:7575669G>A	uc003mxp.1	+	18	2857	c.2578G>A	c.(2578-2580)GTC>ATC	p.V860I	DSP_uc003mxq.1_Missense_Mutation_p.V860I	NM_004415	NP_004406	P15924	DESP_HUMAN	desmoplakin isoform I	860	Globular 1.|Spectrin 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)														---	---	---	---
TXNDC5	81567	broad.mit.edu	37	6	8026607	8026607	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:8026607C>T	uc003mxw.2	-	4	415	c.127G>A	c.(127-129)GAA>AAA	p.E43K	MUTED_uc003mxy.2_Missense_Mutation_p.R126Q|MUTED_uc010joc.2_Missense_Mutation_p.R62Q|MUTED_uc010job.2_RNA	NM_001145549	NP_001139021	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 isoform 3	Error:Variant_position_missing_in_Q8NBS9_after_alignment					anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity				0	Ovarian(93;0.0398)																	---	---	---	---
GCNT2	2651	broad.mit.edu	37	6	10587045	10587045	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10587045G>A	uc010joo.2	+						GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Intron|GCNT2_uc003mzd.2_Intron|GCNT2_uc003mze.2_Missense_Mutation_p.D275N	NM_145649	NP_663624			glucosaminyl (N-acetyl) transferase 2,							Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			ovary(2)	2	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)														---	---	---	---
MAK	4117	broad.mit.edu	37	6	10796375	10796375	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10796375T>C	uc003mzl.2	-	8	1228	c.999A>G	c.(997-999)GGA>GGG	p.G333G	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.2_RNA|MAK_uc010jou.2_RNA|MAK_uc003mzm.2_Silent_p.G333G|MAK_uc010jov.1_RNA	NM_005906	NP_005897	P20794	MAK_HUMAN	male germ cell-associated kinase	333	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)																---	---	---	---
GCM2	9247	broad.mit.edu	37	6	10874462	10874462	+	Silent	SNP	G	T	T	rs151218849		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10874462G>T	uc003mzn.3	-	5	1359	c.1287C>A	c.(1285-1287)CCC>CCA	p.P429P	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	429					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)																---	---	---	---
GCM2	9247	broad.mit.edu	37	6	10874821	10874821	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:10874821G>A	uc003mzn.3	-	5	1000	c.928C>T	c.(928-930)CTA>TTA	p.L310L	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	glial cells missing homolog 2	310					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			ovary(2)|central_nervous_system(1)	3	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)																---	---	---	---
RANBP9	10048	broad.mit.edu	37	6	13622649	13622649	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13622649G>A	uc003nbb.2	-	14	2194	c.2135C>T	c.(2134-2136)GCT>GTT	p.A712V	RANBP9_uc003nba.2_Missense_Mutation_p.A371V	NM_005493	NP_005484	Q96S59	RANB9_HUMAN	RAN binding protein 9	712	Interaction with FMR1.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			lung(1)|skin(1)	2	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)															---	---	---	---
CCDC90A	63933	broad.mit.edu	37	6	13801509	13801509	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:13801509C>T	uc003nbd.2	-						CCDC90A_uc010jpf.2_Intron	NM_001031713	NP_001026883			coiled-coil domain containing 90A precursor							integral to membrane|mitochondrion					0	Breast(50;0.0027)|Ovarian(93;0.0964)	all_hematologic(90;0.117)																---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15512546	15512546	+	Silent	SNP	C	T	T	rs149529040		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:15512546C>T	uc003nbj.2	+	14	3304	c.3060C>T	c.(3058-3060)TGC>TGT	p.C1020C	JARID2_uc011div.1_Silent_p.C848C	NM_004973	NP_004964	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2 protein	1020	JmjC.				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			ovary(2)|lung(1)|pancreas(1)	4	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)																---	---	---	---
MYLIP	29116	broad.mit.edu	37	6	16130862	16130862	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:16130862A>G	uc003nbq.2	+	2	399	c.162A>G	c.(160-162)TTA>TTG	p.L54L	MYLIP_uc003nbr.2_Intron	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	54	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)															---	---	---	---
MYLIP	29116	broad.mit.edu	37	6	16145303	16145303	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:16145303G>A	uc003nbq.2	+	6	1240	c.1003G>A	c.(1003-1005)GTT>ATT	p.V335I	MYLIP_uc003nbr.2_Missense_Mutation_p.V154I	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	335					cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)															---	---	---	---
MYLIP	29116	broad.mit.edu	37	6	16146931	16146931	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:16146931G>A	uc003nbq.2	+	7	1524	c.1287G>A	c.(1285-1287)CAG>CAA	p.Q429Q	MYLIP_uc003nbr.2_Silent_p.Q248Q	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting	429					cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			pancreas(1)	1	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)															---	---	---	---
GMPR	2766	broad.mit.edu	37	6	16290815	16290815	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:16290815G>A	uc003nbs.2	+	8	934	c.820G>A	c.(820-822)GCC>ACC	p.A274T		NM_006877	NP_006868	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	274					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			ovary(1)	1	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)																---	---	---	---
ATXN1	6310	broad.mit.edu	37	6	16306824	16306824	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:16306824G>A	uc003nbt.2	-	9	3155	c.2184C>T	c.(2182-2184)AAC>AAT	p.N728N	ATXN1_uc010jpi.2_Silent_p.N728N|ATXN1_uc010jpj.1_RNA	NM_000332	NP_000323	P54253	ATX1_HUMAN	ataxin 1	728	Interaction with USP7.|RNA-binding.				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)																---	---	---	---
RBM24	221662	broad.mit.edu	37	6	17292175	17292175	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:17292175C>T	uc003nbz.3	+	4	540	c.536C>T	c.(535-537)GCA>GTA	p.A179V	RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Missense_Mutation_p.A121V|RBM24_uc003nca.2_Missense_Mutation_p.A134V|RBM24_uc011diy.1_Nonsense_Mutation_p.Q93*|RBM24_uc011diz.1_Nonsense_Mutation_p.Q78*	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24 isoform 1	179	Ala-rich.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			ovary(1)|skin(1)	2	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)															---	---	---	---
TPMT	7172	broad.mit.edu	37	6	18148086	18148086	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:18148086A>G	uc003ncm.2	-	3	356	c.201T>C	c.(199-201)TTT>TTC	p.F67F	TPMT_uc010jpm.1_Silent_p.F67F	NM_000367	NP_000358	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	67					xenobiotic metabolic process	cytosol	thiopurine S-methyltransferase activity				0	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Mercaptopurine(DB01033)													---	---	---	---
CDKAL1	54901	broad.mit.edu	37	6	20739811	20739811	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:20739811C>T	uc003ndc.1	+	6	607	c.433C>T	c.(433-435)CGC>TGC	p.R145C	CDKAL1_uc003ndd.1_Missense_Mutation_p.R145C|CDKAL1_uc003nde.1_Missense_Mutation_p.R75C	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein	145	MTTase N-terminal.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			ovary(2)	2	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)															---	---	---	---
GPLD1	2822	broad.mit.edu	37	6	24456738	24456738	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24456738G>A	uc003ned.1	-	13	1247	c.1136C>T	c.(1135-1137)GCG>GTG	p.A379V	GPLD1_uc010jpr.1_Missense_Mutation_p.A216V|GPLD1_uc010jps.1_Missense_Mutation_p.A379V	NM_001503	NP_001494	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific	379	FG-GAP 1.					extracellular region	glycosylphosphatidylinositol phospholipase D activity			ovary(2)|kidney(1)	3																		---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24596739	24596739	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24596739C>T	uc011djo.1	-	3	400	c.163G>A	c.(163-165)GTA>ATA	p.V55I	KIAA0319_uc011djp.1_Missense_Mutation_p.V10I|KIAA0319_uc003neh.1_Missense_Mutation_p.V55I|KIAA0319_uc011djq.1_Missense_Mutation_p.V46I|KIAA0319_uc011djr.1_Missense_Mutation_p.V55I	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	55	MANSC.|Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2																		---	---	---	---
HIST1H2AA	221613	broad.mit.edu	37	6	25726615	25726615	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25726615G>A	uc003nfc.2	-	1	176	c.141C>T	c.(139-141)GGC>GGT	p.G47G	HIST1H2BA_uc003nfd.2_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	47					nucleosome assembly	nucleosome|nucleus	DNA binding				0																		---	---	---	---
HIST1H2AD	3013	broad.mit.edu	37	6	26199228	26199228	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26199228G>A	uc003ngw.2	-	1	244	c.244C>T	c.(244-246)CGA>TGA	p.R82*	HIST1H3D_uc003ngv.2_5'UTR|HIST1H2BF_uc003ngx.2_5'Flank	NM_021065	NP_066409	P20671	H2A1D_HUMAN	histone cluster 1, H2ad	82					nucleosome assembly	nucleosome|nucleus	DNA binding				0		all_hematologic(11;0.196)																---	---	---	---
ZNF193	7746	broad.mit.edu	37	6	28194987	28194987	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28194987G>A	uc003nkq.1	+	2	240	c.125G>A	c.(124-126)CGC>CAC	p.R42H	ZNF193_uc003nkr.1_Missense_Mutation_p.R42H|ZNF193_uc010jqz.1_Missense_Mutation_p.R42H	NM_006299	NP_006290	O15535	ZN193_HUMAN	zinc finger protein 193	42					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
ZNF193	7746	broad.mit.edu	37	6	28200739	28200739	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28200739C>T	uc003nkq.1	+	4	1083	c.968C>T	c.(967-969)GCG>GTG	p.A323V	ZNF193_uc003nkr.1_Missense_Mutation_p.A323V|ZNF193_uc010jqz.1_Missense_Mutation_p.A374V	NM_006299	NP_006290	O15535	ZN193_HUMAN	zinc finger protein 193	323	C2H2-type 3.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
OR2J3	442186	broad.mit.edu	37	6	29079899	29079899	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29079899A>G	uc011dll.1	+	1	232	c.232A>G	c.(232-234)ACC>GCC	p.T78A		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
OR10C1	442194	broad.mit.edu	37	6	29407822	29407822	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29407822G>A	uc011dlp.1	+	1	30	c.30G>A	c.(28-30)GAG>GAA	p.E10E	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C,	10	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
RNF39	80352	broad.mit.edu	37	6	30039064	30039064	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30039064G>A	uc003npe.2	-	4	1149	c.1087C>T	c.(1087-1089)CGG>TGG	p.R363W	RNF39_uc003npd.2_Intron	NM_025236	NP_079512	Q9H2S5	RNF39_HUMAN	ring finger protein 39 isoform 1	363	B30.2/SPRY.					cytoplasm	zinc ion binding				0																		---	---	---	---
TRIM15	89870	broad.mit.edu	37	6	30139971	30139971	+	Missense_Mutation	SNP	G	A	A	rs115649931	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30139971G>A	uc010jrx.2	+	7	1722	c.1243G>A	c.(1243-1245)GTG>ATG	p.V415M		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	tripartite motif protein 15	415	B30.2/SPRY.				mesodermal cell fate determination	intracellular	zinc ion binding				0																		---	---	---	---
GNL1	2794	broad.mit.edu	37	6	30521321	30521321	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30521321G>A	uc003nqh.2	-	6	1642	c.614C>T	c.(613-615)CCG>CTG	p.P205L	GNL1_uc011dmi.1_Missense_Mutation_p.P67L|GNL1_uc011dmj.1_Missense_Mutation_p.P203L|GNL1_uc011dmk.1_Intron	NM_005275	NP_005266	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	205					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			ovary(3)	3																		---	---	---	---
ABCF1	23	broad.mit.edu	37	6	30550937	30550937	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30550937C>T	uc003nql.2	+	10	982	c.887C>T	c.(886-888)GCC>GTC	p.A296V	ABCF1_uc003nqk.2_Missense_Mutation_p.A297V|ABCF1_uc003nqm.2_Missense_Mutation_p.A258V|ABCF1_uc010jsb.2_Intron|MIR877_hsa-mir-877|MI0005561_5'Flank	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F, member 1	296					inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			ovary(2)	2																		---	---	---	---
PPP1R10	5514	broad.mit.edu	37	6	30570116	30570116	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30570116G>A	uc003nqn.1	-	19	2862	c.2310C>T	c.(2308-2310)CAC>CAT	p.H770H	PPP1R10_uc010jsc.1_Silent_p.H424H	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	770	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																		---	---	---	---
MUC21	394263	broad.mit.edu	37	6	30955468	30955468	+	Intron	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:30955468T>C	uc003nsh.2	+						MUC21_uc003nsi.1_Intron	NM_001010909	NP_001010909			mucin 21 precursor							integral to membrane|plasma membrane				ovary(1)|skin(1)	2																		---	---	---	---
HLA-B	3106	broad.mit.edu	37	6	31324063	31324063	+	Missense_Mutation	SNP	G	A	A	rs41541519	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31324063G>A	uc003nth.2	-	3	554	c.500C>T	c.(499-501)ACC>ATC	p.T167I	HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.T46I|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_RNA|HLA-B_uc010jso.2_Missense_Mutation_p.T139I	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	167	Extracellular (Potential).|Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0														Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				---	---	---	---
LY6G5C	80741	broad.mit.edu	37	6	31644883	31644883	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31644883C>T	uc003nvu.1	-	3	295	c.295G>A	c.(295-297)GTC>ATC	p.V99I	LY6G5C_uc003nvw.1_RNA|LY6G5C_uc010jtb.1_RNA	NM_025262	NP_079538	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex G5C	102	UPAR/Ly6.					extracellular region					0																		---	---	---	---
VARS	7407	broad.mit.edu	37	6	31746992	31746992	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31746992C>T	uc003nxe.2	-	29	3901	c.3478G>A	c.(3478-3480)GCA>ACA	p.A1160T	C6orf27_uc011dog.1_5'Flank|C6orf27_uc003nxd.2_5'Flank|C6orf27_uc011doh.1_5'Flank|VARS_uc003nxf.1_Missense_Mutation_p.A97T	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1160					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)													---	---	---	---
RDBP	7936	broad.mit.edu	37	6	31922350	31922350	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31922350G>A	uc003nyk.2	-	7	928	c.724C>T	c.(724-726)CGA>TGA	p.R242*	RDBP_uc011dot.1_Nonsense_Mutation_p.R212*|RDBP_uc003nyl.1_Nonsense_Mutation_p.R182*|RDBP_uc003nym.1_Nonsense_Mutation_p.R237*	NM_002904	NP_002895	P18615	NELFE_HUMAN	RD RNA-binding protein	242	30 X 2 AA approximate tandem repeats of R-[DSNE].|30.				positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	nucleotide binding|protein binding|RNA binding				0																		---	---	---	---
CYP21A2	1589	broad.mit.edu	37	6	32008352	32008352	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32008352G>A	uc003nze.1	+	8	1227	c.1109G>A	c.(1108-1110)CGG>CAG	p.R370Q	CYP21A2_uc003nzf.1_Missense_Mutation_p.R340Q	NM_000500	NP_000491	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A,	369			R -> W (in AH3).		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																		---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32052313	32052313	+	Missense_Mutation	SNP	C	T	T	rs121912575		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32052313C>T	uc003nzl.2	-	8	3524	c.3322G>A	c.(3322-3324)GTG>ATG	p.V1108M		NM_019105	NP_061978	P22105	TENX_HUMAN	tenascin XB isoform 1 precursor	1195	Fibronectin type-III 4.		V -> M (in EDS3).		actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding				0																		---	---	---	---
TAP1	6890	broad.mit.edu	37	6	32813442	32813442	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:32813442G>A	uc003ocg.2	-	11	2496	c.2341C>T	c.(2341-2343)CGG>TGG	p.R781W	PSMB8_uc003oce.2_5'Flank|PSMB8_uc003ocf.2_5'Flank|PSMB8_uc011dqh.1_5'Flank|TAP1_uc011dqi.1_Missense_Mutation_p.R520W	NM_000593	NP_000584	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family	781	Cytoplasmic (Potential).|ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			skin(1)	1																		---	---	---	---
HLA-DPA1	3113	broad.mit.edu	37	6	33036446	33036446	+	Missense_Mutation	SNP	C	A	A	rs143120448	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33036446C>A	uc003ocs.1	-	4	795	c.764G>T	c.(763-765)CGG>CTG	p.R255L	HLA-DPA1_uc010juk.2_Missense_Mutation_p.R255L	NM_033554	NP_291032	P20036	DPA1_HUMAN	major histocompatibility complex, class II, DP	255	Cytoplasmic (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			skin(1)	1																		---	---	---	---
SYNGAP1	8831	broad.mit.edu	37	6	33408670	33408670	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33408670A>G	uc011dri.1	+	11	2036	c.1841A>G	c.(1840-1842)TAC>TGC	p.Y614C	SYNGAP1_uc010juy.2_Missense_Mutation_p.Y599C|SYNGAP1_uc010juz.2_Missense_Mutation_p.Y326C	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	614	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			ovary(4)	4																		---	---	---	---
C6orf227	401253	broad.mit.edu	37	6	33555552	33555552	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33555552C>T	uc003oew.1	-	2	438	c.436G>A	c.(436-438)GTG>ATG	p.V146M	GGNBP1_uc003oev.2_Intron	NR_027908				RecName: Full=Putative uncharacterized protein C6orf227;												0																		---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33659477	33659477	+	Silent	SNP	G	A	A	rs113565114	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33659477G>A	uc011drk.1	+	53	7530	c.7311G>A	c.(7309-7311)TCG>TCA	p.S2437S	ITPR3_uc003oey.2_Silent_p.S524S	NM_002224	NP_002215	Q14573	ITPR3_HUMAN	inositol 1,4,5-triphosphate receptor, type 3	2437	Extracellular (Potential).				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19																		---	---	---	---
GRM4	2914	broad.mit.edu	37	6	33996039	33996039	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:33996039C>T	uc003oir.3	-	9	2717	c.2547G>A	c.(2545-2547)CCG>CCA	p.P849P	GRM4_uc011dsn.1_Silent_p.P802P|GRM4_uc010jvh.2_Silent_p.P849P|GRM4_uc010jvi.2_Silent_p.P541P|GRM4_uc003oio.2_Silent_p.P541P|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.P709P|GRM4_uc003oiq.2_Silent_p.P716P|GRM4_uc011dsm.1_Silent_p.P680P	NM_000841	NP_000832	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4 precursor	849	Cytoplasmic (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)													---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34839689	34839689	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:34839689T>G	uc003oju.3	+	20	4418	c.4184T>G	c.(4183-4185)GTT>GGT	p.V1395G	UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	ICBP90 binding protein 1	1395										ovary(3)	3																		---	---	---	---
SCUBE3	222663	broad.mit.edu	37	6	35213838	35213838	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35213838C>T	uc003okf.1	+	20	2723	c.2717C>T	c.(2716-2718)GCC>GTC	p.A906V	SCUBE3_uc003okg.1_Missense_Mutation_p.A905V|SCUBE3_uc003okh.1_Missense_Mutation_p.A793V	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	906	CUB.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			skin(1)	1																		---	---	---	---
ZNF76	7629	broad.mit.edu	37	6	35259393	35259393	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35259393C>T	uc003oki.1	+	9	1015	c.810C>T	c.(808-810)AAC>AAT	p.N270N	ZNF76_uc011dsy.1_Silent_p.N270N|ZNF76_uc011dsz.1_Silent_p.N270N|ZNF76_uc003okj.1_Silent_p.N270N	NM_003427	NP_003418	P36508	ZNF76_HUMAN	zinc finger protein 76 (expressed in testis)	270	C2H2-type 4.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
LHFPL5	222662	broad.mit.edu	37	6	35773519	35773519	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35773519C>T	uc003olg.1	+	1	449	c.72C>T	c.(70-72)GCC>GCT	p.A24A		NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	24						integral to membrane				skin(1)	1																		---	---	---	---
C6orf89	221477	broad.mit.edu	37	6	36867235	36867235	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:36867235C>T	uc003omx.2	+	3	299	c.15C>T	c.(13-15)GCC>GCT	p.A5A	C6orf89_uc003omv.2_5'UTR|C6orf89_uc003omw.2_Silent_p.A12A|C6orf89_uc011dtr.1_5'UTR	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	hypothetical protein LOC221477	5				A -> V (in Ref. 3; CAD98021).		integral to membrane				ovary(1)	1																		---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38835886	38835886	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38835886C>T	uc003ooe.1	+	46	6691	c.6091C>T	c.(6091-6093)CTT>TTT	p.L2031F		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																		---	---	---	---
KIF6	221458	broad.mit.edu	37	6	39580979	39580979	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39580979G>A	uc003oot.2	-	6	720	c.625C>T	c.(625-627)CGA>TGA	p.R209*	KIF6_uc010jxa.1_5'UTR|KIF6_uc011dua.1_Nonsense_Mutation_p.R209*|KIF6_uc010jxb.1_Nonsense_Mutation_p.R209*	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	209	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3																		---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39874300	39874300	+	Missense_Mutation	SNP	G	A	A	rs146849119	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39874300G>A	uc003opb.2	-	10	1882	c.1744C>T	c.(1744-1746)CGG>TGG	p.R582W	MOCS1_uc003opa.2_3'UTR|MOCS1_uc003opc.2_Missense_Mutation_p.R566W|MOCS1_uc003opd.2_3'UTR|MOCS1_uc003ope.2_Missense_Mutation_p.R479W	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	582	Molybdenum cofactor biosynthesis protein C.				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)																	---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39895297	39895297	+	Silent	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:39895297G>T	uc003opb.2	-	1	159	c.21C>A	c.(19-21)CTC>CTA	p.L7L	MOCS1_uc003opa.2_Silent_p.L7L|MOCS1_uc003opc.2_Silent_p.L7L|MOCS1_uc003opd.2_Intron|MOCS1_uc003ope.2_Intron	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis-step 1 protein	Error:Variant_position_missing_in_Q9NZB8_after_alignment					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)																	---	---	---	---
LRFN2	57497	broad.mit.edu	37	6	40400558	40400558	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:40400558G>T	uc003oph.1	-	2	760	c.295C>A	c.(295-297)CTC>ATC	p.L99I		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III	99	Extracellular (Potential).					cell junction|integral to membrane|postsynaptic membrane				ovary(2)|skin(1)	3	Ovarian(28;0.0418)|Colorectal(47;0.196)																	---	---	---	---
KIAA0240	23506	broad.mit.edu	37	6	42830362	42830362	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42830362C>T	uc003osn.1	+						KIAA0240_uc011duw.1_Intron|KIAA0240_uc003osp.1_Intron	NM_015349	NP_056164			hypothetical protein LOC23506											ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)															---	---	---	---
GNMT	27232	broad.mit.edu	37	6	42931280	42931280	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42931280C>T	uc003otd.2	+	6	730	c.724C>T	c.(724-726)CGG>TGG	p.R242W	uc003ote.1_5'Flank	NM_018960	NP_061833	Q14749	GNMT_HUMAN	glycine N-methyltransferase	242					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity				0	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)													---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43163827	43163827	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43163827C>T	uc003ouk.2	+	10	2484	c.2409C>T	c.(2407-2409)GTC>GTT	p.V803V	CUL9_uc003oul.2_Silent_p.V803V|CUL9_uc010jyk.2_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	p53-associated parkin-like cytoplasmic protein	803					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12																		---	---	---	---
TTBK1	84630	broad.mit.edu	37	6	43251223	43251223	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43251223C>T	uc003ouq.1	+	14	3024	c.2745C>T	c.(2743-2745)GGC>GGT	p.G915G		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	915						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)															---	---	---	---
ABCC10	89845	broad.mit.edu	37	6	43410697	43410697	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43410697C>T	uc003ouy.1	+						ABCC10_uc003ouz.1_Intron|ABCC10_uc010jyo.1_Intron	NM_033450	NP_258261			ATP-binding cassette, sub-family C, member 10							integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)															---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44278802	44278802	+	Silent	SNP	G	A	A	rs78135749	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44278802G>A	uc010jza.1	-	4	681	c.678C>T	c.(676-678)TAC>TAT	p.Y226Y	SPATS1_uc003oxg.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	226					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)													---	---	---	---
TDRD6	221400	broad.mit.edu	37	6	46656982	46656982	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46656982A>G	uc003oyj.2	+	1	1117	c.1117A>G	c.(1117-1119)ACC>GCC	p.T373A	TDRD6_uc010jze.2_Missense_Mutation_p.T367A	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	tudor domain containing 6	373					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			breast(3)|ovary(2)|skin(1)	6			Lung(136;0.192)															---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46824635	46824635	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46824635A>C	uc003oyo.3	-	18	4074	c.3785T>G	c.(3784-3786)ATT>AGT	p.I1262S	GPR116_uc011dwj.1_Missense_Mutation_p.I817S|GPR116_uc011dwk.1_Missense_Mutation_p.I691S|GPR116_uc003oyp.3_Missense_Mutation_p.I1120S|GPR116_uc003oyq.3_Missense_Mutation_p.I1262S|GPR116_uc010jzi.1_Missense_Mutation_p.I934S	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	1262	Helical; Name=7; (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---
GPR116	221395	broad.mit.edu	37	6	46851913	46851913	+	Missense_Mutation	SNP	G	A	A	rs138516675		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:46851913G>A	uc003oyo.3	-	5	713	c.424C>T	c.(424-426)CGT>TGT	p.R142C	GPR116_uc003oyp.3_Missense_Mutation_p.R142C|GPR116_uc003oyq.3_Missense_Mutation_p.R142C|GPR116_uc003oyr.2_Missense_Mutation_p.R142C	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	G-protein coupled receptor 116 precursor	142	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|skin(1)	2			Lung(136;0.192)															---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51524706	51524706	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51524706T>C	uc003pah.1	-	61	10494	c.10218A>G	c.(10216-10218)AAA>AAG	p.K3406K		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	3406	Extracellular (Potential).				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)																	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51920455	51920455	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51920455C>T	uc003pah.1	-	19	2042	c.1766G>A	c.(1765-1767)CGT>CAT	p.R589H	PKHD1_uc003pai.2_Missense_Mutation_p.R589H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	589	Extracellular (Potential).				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	p.R589H(1)		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)																	---	---	---	---
EFHC1	114327	broad.mit.edu	37	6	52355112	52355112	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52355112G>A	uc003pap.3	+	10	2030	c.1815G>A	c.(1813-1815)TCG>TCA	p.S605S	EFHC1_uc011dwv.1_Silent_p.S514S|EFHC1_uc011dww.1_Silent_p.S586S	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	605	EF-hand.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			ovary(2)|skin(1)	3	Lung NSC(77;0.109)																	---	---	---	---
DST	667	broad.mit.edu	37	6	56325048	56325048	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56325048G>A	uc003pdf.2	-	96	16674	c.16646C>T	c.(16645-16647)ACG>ATG	p.T5549M	DST_uc003pcz.3_Missense_Mutation_p.T5371M|DST_uc011dxj.1_Missense_Mutation_p.T5400M|DST_uc011dxk.1_Missense_Mutation_p.T5411M|DST_uc003pcy.3_Missense_Mutation_p.T5045M|DST_uc003pcv.3_Missense_Mutation_p.T167M|DST_uc003pcw.3_Missense_Mutation_p.T128M|DST_uc003pcx.3_Missense_Mutation_p.T91M	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	7444					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56417016	56417016	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56417016G>A	uc003pdf.2	-	55	10245	c.10217C>T	c.(10216-10218)ACG>ATG	p.T3406M	DST_uc003pcz.3_Missense_Mutation_p.T3228M|DST_uc011dxj.1_Missense_Mutation_p.T3257M|DST_uc011dxk.1_Missense_Mutation_p.T3268M|DST_uc003pcy.3_Missense_Mutation_p.T2902M	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	dystonin isoform 2	5314	Spectrin 7.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
DST	667	broad.mit.edu	37	6	56483956	56483956	+	Intron	SNP	G	A	A	rs138869481	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:56483956G>A	uc003pdf.2	-						DST_uc003pcz.3_Intron|DST_uc011dxj.1_Intron|DST_uc011dxk.1_Intron|DST_uc003pcy.3_Intron|DST_uc003pdb.2_Intron|DST_uc003pdc.3_Missense_Mutation_p.R1626C	NM_001144769	NP_001138241			dystonin isoform 2						cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)															---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63990219	63990219	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:63990219T>C	uc003peh.2	-	4	1271	c.1237A>G	c.(1237-1239)ACA>GCA	p.T413A	LGSN_uc003pei.2_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase	413					glutamine biosynthetic process		glutamate-ammonia ligase activity			skin(2)	2					L-Glutamic Acid(DB00142)													---	---	---	---
PTP4A1	7803	broad.mit.edu	37	6	64290032	64290032	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:64290032C>T	uc003pek.2	+	8	1461	c.475C>T	c.(475-477)CGT>TGT	p.R159C	PTP4A1_uc003pel.2_Missense_Mutation_p.R159C	NM_003463	NP_003454	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	159					cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity				0	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)															---	---	---	---
LMBRD1	55788	broad.mit.edu	37	6	70423650	70423650	+	Missense_Mutation	SNP	C	T	T	rs143758103		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70423650C>T	uc003pfa.2	-	9	917	c.802G>A	c.(802-804)GCC>ACC	p.A268T	LMBRD1_uc003pey.2_Missense_Mutation_p.A64T|LMBRD1_uc003pez.2_Missense_Mutation_p.A195T|LMBRD1_uc010kal.2_Missense_Mutation_p.A195T|LMBRD1_uc003pfb.2_RNA	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	liver regeneration p-53 related protein	268	Cytoplasmic (Potential).				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			ovary(1)	1																		---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70964854	70964854	+	Missense_Mutation	SNP	G	A	A	rs141895443		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:70964854G>A	uc003pfg.3	-	23	1769	c.1610C>T	c.(1609-1611)ACG>ATG	p.T537M	COL9A1_uc003pfe.3_Missense_Mutation_p.T110M|COL9A1_uc003pff.3_Missense_Mutation_p.T294M	NM_001851	NP_001842	P20849	CO9A1_HUMAN	alpha 1 type IX collagen isoform 1 precursor	537	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			ovary(4)	4																		---	---	---	---
RIMS1	22999	broad.mit.edu	37	6	73000541	73000541	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:73000541G>A	uc003pga.2	+	25	3791	c.3714G>A	c.(3712-3714)GCG>GCA	p.A1238A	RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Intron|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1238					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)																---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79787212	79787212	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:79787212G>A	uc003pir.2	-	4	368	c.142C>T	c.(142-144)CGC>TGC	p.R48C	PHIP_uc011dyp.1_Missense_Mutation_p.R48C	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	48					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)														---	---	---	---
DOPEY1	23033	broad.mit.edu	37	6	83848112	83848112	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:83848112A>G	uc003pjs.1	+	21	4611	c.4351A>G	c.(4351-4353)ATG>GTG	p.M1451V	DOPEY1_uc011dyy.1_Missense_Mutation_p.M1442V|DOPEY1_uc010kbl.1_Missense_Mutation_p.M1442V|DOPEY1_uc003pjt.2_RNA	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN	dopey family member 1	1451					protein transport					ovary(2)|breast(1)|central_nervous_system(1)	4		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)														---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86329116	86329116	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:86329116C>T	uc003pla.2	-	9	1569	c.1028G>A	c.(1027-1029)CGC>CAC	p.R343H	SYNCRIP_uc003pku.2_Missense_Mutation_p.R343H|SYNCRIP_uc003pkw.2_Missense_Mutation_p.R308H|SYNCRIP_uc003pky.2_Missense_Mutation_p.R245H|SYNCRIP_uc003pkv.2_Missense_Mutation_p.R343H|SYNCRIP_uc003pkx.2_Missense_Mutation_p.R191H|SYNCRIP_uc003pkz.2_Missense_Mutation_p.R308H	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA	343	RRM 3.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			ovary(2)	2		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)														---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87967789	87967789	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:87967789G>C	uc003plm.3	+	8	4483	c.4442G>C	c.(4441-4443)AGT>ACT	p.S1481T		NM_015021	NP_055836	O60281	ZN292_HUMAN	zinc finger protein 292	1481					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)														---	---	---	---
SPACA1	81833	broad.mit.edu	37	6	88767395	88767395	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:88767395C>T	uc003pmn.2	+	3	448	c.331C>T	c.(331-333)CGG>TGG	p.R111W		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1 precursor	111	Extracellular (Potential).					integral to membrane					0		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)														---	---	---	---
GABRR2	2570	broad.mit.edu	37	6	89974265	89974265	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:89974265C>T	uc003pnb.2	-	8	1035	c.1027G>A	c.(1027-1029)GTC>ATC	p.V343I	GABRR2_uc011dzx.1_Missense_Mutation_p.V219I	NM_002043	NP_002034	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) receptor, rho 2	343					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity				0		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)														---	---	---	---
MDN1	23195	broad.mit.edu	37	6	90368550	90368550	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:90368550C>T	uc003pnn.1	-	89	14916	c.14800G>A	c.(14800-14802)GAA>AAA	p.E4934K		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	MDN1, midasin homolog	4934					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)														---	---	---	---
C6orf168	84553	broad.mit.edu	37	6	99771411	99771411	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:99771411G>A	uc003ppj.3	-	4	1015	c.732C>T	c.(730-732)CGC>CGT	p.R244R	C6orf168_uc003ppi.3_Intron	NM_032511	NP_115900	Q5TGI0	CF168_HUMAN	hypothetical protein LOC84553	244										ovary(2)|central_nervous_system(1)	3		all_cancers(76;1.63e-06)|Acute lymphoblastic leukemia(125;5.12e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00898)|Colorectal(196;0.0699)|Lung NSC(302;0.198)		BRCA - Breast invasive adenocarcinoma(108;0.073)														---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101054868	101054868	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101054868G>A	uc003pqk.2	-	31	5211	c.4882C>T	c.(4882-4884)CGA>TGA	p.R1628*		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1628	Helicase C-terminal 2.				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)														---	---	---	---
POPDC3	64208	broad.mit.edu	37	6	105606568	105606568	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105606568T>C	uc003prb.2	-	4	1055	c.653A>G	c.(652-654)TAT>TGT	p.Y218C	uc003pqz.2_Intron|POPDC3_uc003pra.2_RNA	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN	popeye protein 3	218						integral to membrane				skin(3)|ovary(2)	5		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)																---	---	---	---
PREP	5550	broad.mit.edu	37	6	105726225	105726225	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105726225G>A	uc003prc.2	-	15	2130	c.1927C>T	c.(1927-1929)CGC>TGC	p.R643C		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	643					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)													---	---	---	---
SOBP	55084	broad.mit.edu	37	6	107908370	107908370	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107908370C>T	uc003prx.2	+	5	1164	c.660C>T	c.(658-660)TGC>TGT	p.C220C	SOBP_uc003prw.1_Silent_p.C220C	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	220	FCS-type 2.						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)														---	---	---	---
SOBP	55084	broad.mit.edu	37	6	107955624	107955624	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107955624C>T	uc003prx.2	+	6	2080	c.1576C>T	c.(1576-1578)CCG>TCG	p.P526S		NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	526	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)														---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111696826	111696826	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:111696826C>T	uc003puy.3	-	13	3055	c.2732G>A	c.(2731-2733)GGA>GAA	p.G911E	REV3L_uc003pux.3_Missense_Mutation_p.G833E|REV3L_uc003puz.3_Missense_Mutation_p.G833E	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	DNA polymerase zeta	911					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			large_intestine(2)|ovary(2)|skin(2)	6		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)									DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage					---	---	---	---
KPNA5	3841	broad.mit.edu	37	6	117043431	117043431	+	Missense_Mutation	SNP	G	A	A	rs150107300		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:117043431G>A	uc003pxh.2	+	9	1030	c.899G>A	c.(898-900)CGA>CAA	p.R300Q		NM_002269	NP_002260	O15131	IMA5_HUMAN	karyopherin alpha 5	297	ARM 6.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(3)|skin(1)	4		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)														---	---	---	---
C6orf174	387104	broad.mit.edu	37	6	127796980	127796980	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:127796980A>G	uc003qbd.2	-	6	3056	c.2191T>C	c.(2191-2193)TCC>CCC	p.S731P	C6orf174_uc003qbc.2_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	hypothetical protein LOC387104 precursor	731						integral to membrane				breast(3)|ovary(2)|skin(1)	6				GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)														---	---	---	---
MED23	9439	broad.mit.edu	37	6	131915355	131915355	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131915355G>A	uc003qcs.1	-	23	3290	c.3116C>T	c.(3115-3117)CCG>CTG	p.P1039L	MED23_uc003qcq.2_Missense_Mutation_p.P1045L|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Missense_Mutation_p.P680L	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1039					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			ovary(1)|kidney(1)|central_nervous_system(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)														---	---	---	---
ALDH8A1	64577	broad.mit.edu	37	6	135239851	135239851	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:135239851G>A	uc003qew.2	-	7	1219	c.1166C>T	c.(1165-1167)ACG>ATG	p.T389M	ALDH8A1_uc003qex.2_Missense_Mutation_p.T335M|ALDH8A1_uc010kgh.2_Missense_Mutation_p.T167M|ALDH8A1_uc011ecx.1_Missense_Mutation_p.T339M	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8A1 isoform 1	389					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)														---	---	---	---
IL20RA	53832	broad.mit.edu	37	6	137323028	137323028	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:137323028C>T	uc003qhj.2	-	7	1762	c.1329G>A	c.(1327-1329)CCG>CCA	p.P443P	IL20RA_uc011edl.1_Silent_p.P394P|IL20RA_uc003qhk.2_Silent_p.P332P|IL20RA_uc003qhi.2_Silent_p.P175P	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha precursor	443	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(2)|skin(2)	4	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)														---	---	---	---
TNFAIP3	7128	broad.mit.edu	37	6	138199687	138199687	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:138199687G>A	uc003qhr.2	+	7	1171	c.1105G>A	c.(1105-1107)GCC>ACC	p.A369T	TNFAIP3_uc003qhs.2_Missense_Mutation_p.A369T	NM_006290	NP_006281	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	369	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(22)		haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1)	137	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)				D|N|F		marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma								---	---	---	---
HECA	51696	broad.mit.edu	37	6	139488290	139488290	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:139488290C>T	uc003qin.2	+	2	1426	c.1141C>T	c.(1141-1143)CGG>TGG	p.R381W		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	headcase	381					respiratory tube development						0				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)														---	---	---	---
HIVEP2	3097	broad.mit.edu	37	6	143094060	143094060	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:143094060C>T	uc003qjd.2	-	5	2559	c.1816G>A	c.(1816-1818)GTG>ATG	p.V606M		NM_006734	NP_006725	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|skin(2)|central_nervous_system(1)	6				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)														---	---	---	---
PHACTR2	9749	broad.mit.edu	37	6	144086828	144086828	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144086828C>T	uc003qjq.3	+	6	1222	c.1092C>T	c.(1090-1092)CCC>CCT	p.P364P	PHACTR2_uc010khh.2_Silent_p.P284P|PHACTR2_uc010khi.2_Silent_p.P375P|PHACTR2_uc003qjr.3_Silent_p.P295P	NM_014721	NP_055536	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2 isoform 3	364							actin binding|protein phosphatase inhibitor activity			ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)														---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144814587	144814587	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:144814587G>A	uc003qkt.2	+	32	4680	c.4588G>A	c.(4588-4590)GCA>ACA	p.A1530T		NM_007124	NP_009055	P46939	UTRO_HUMAN	utrophin	1530	Spectrin 10.|Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			ovary(4)|pancreas(1)	5		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)														---	---	---	---
SASH1	23328	broad.mit.edu	37	6	148853974	148853974	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:148853974C>T	uc003qme.1	+	14	2081	c.1606C>T	c.(1606-1608)CGG>TGG	p.R536W	SASH1_uc011eeb.1_Missense_Mutation_p.R297W|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	536							protein binding			central_nervous_system(1)	1		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)														---	---	---	---
PPIL4	85313	broad.mit.edu	37	6	149842224	149842224	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149842224C>T	uc003qmo.1	-	10	984	c.954G>A	c.(952-954)TCG>TCA	p.S318S	PPIL4_uc010kic.2_Intron|PPIL4_uc003qmp.1_Silent_p.S318S	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase-like 4	318	RRM.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)														---	---	---	---
LRP11	84918	broad.mit.edu	37	6	150157316	150157316	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:150157316G>T	uc003qng.2	-	5	1481	c.1157C>A	c.(1156-1158)ACT>AAT	p.T386N	LRP11_uc003qnh.1_Missense_Mutation_p.T386N	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein	386	Extracellular (Potential).					integral to membrane	receptor activity				0		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)														---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151161744	151161744	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151161744G>A	uc003qny.1	+	17	4182	c.3870G>A	c.(3868-3870)TCG>TCA	p.S1290S	PLEKHG1_uc011eem.1_Silent_p.S1349S	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G	1290					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)														---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152454426	152454426	+	Silent	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152454426C>A	uc010kiw.2	-	143	26588	c.25986G>T	c.(25984-25986)GTG>GTT	p.V8662V	SYNE1_uc010kiv.2_Silent_p.V3186V|SYNE1_uc003qos.3_Silent_p.V3186V|SYNE1_uc003qot.3_Silent_p.V8614V|SYNE1_uc003qou.3_Silent_p.V8662V|SYNE1_uc003qop.3_Silent_p.V847V|SYNE1_uc011eez.1_Silent_p.V864V|SYNE1_uc003qoq.3_Silent_p.V864V|SYNE1_uc003qor.3_Silent_p.V1585V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8662	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152462385	152462385	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152462385C>A	uc010kiw.2	-	139	25801	c.25199G>T	c.(25198-25200)AGC>ATC	p.S8400I	SYNE1_uc010kiv.2_Missense_Mutation_p.S2924I|SYNE1_uc003qos.3_Missense_Mutation_p.S2924I|SYNE1_uc003qot.3_Missense_Mutation_p.S8352I|SYNE1_uc003qou.3_Missense_Mutation_p.S8400I|SYNE1_uc003qop.3_Missense_Mutation_p.S585I|SYNE1_uc011eez.1_Missense_Mutation_p.S602I|SYNE1_uc003qoq.3_Missense_Mutation_p.S602I|SYNE1_uc003qor.3_Missense_Mutation_p.S1323I	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8400	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152464870	152464870	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152464870C>T	uc010kiw.2	-	138	25609	c.25007G>A	c.(25006-25008)CGA>CAA	p.R8336Q	SYNE1_uc010kiv.2_Missense_Mutation_p.R2860Q|SYNE1_uc003qos.3_Missense_Mutation_p.R2860Q|SYNE1_uc003qot.3_Missense_Mutation_p.R8288Q|SYNE1_uc003qou.3_Missense_Mutation_p.R8336Q|SYNE1_uc003qop.3_Missense_Mutation_p.R521Q|SYNE1_uc011eez.1_Missense_Mutation_p.R538Q|SYNE1_uc003qoq.3_Missense_Mutation_p.R538Q|SYNE1_uc003qor.3_Missense_Mutation_p.R1259Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8336	Potential.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---
CNKSR3	154043	broad.mit.edu	37	6	154727708	154727708	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:154727708C>T	uc003qpy.2	-	13	1953	c.1448G>A	c.(1447-1449)CGG>CAG	p.R483Q		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	483	DUF1170.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)														---	---	---	---
CNKSR3	154043	broad.mit.edu	37	6	154762478	154762478	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:154762478G>A	uc003qpy.2	-	4	960	c.455C>T	c.(454-456)ACG>ATG	p.T152M		NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	152	CRIC.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				ovary(2)|breast(1)|skin(1)	4		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)														---	---	---	---
TFB1M	51106	broad.mit.edu	37	6	155581543	155581543	+	Intron	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155581543T>C	uc003qqj.3	-						TFB1M_uc003qqk.2_Intron	NM_016020	NP_057104			transcription factor B1, mitochondrial						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	DNA binding|protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity			skin(1)	1		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)														---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155776036	155776036	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155776036C>T	uc003qqm.2	-	3	267	c.164G>A	c.(163-165)CGA>CAA	p.R55Q		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	55	Ferric oxidoreductase.|Helical; (Potential).						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			ovary(1)	1		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)														---	---	---	---
SNX9	51429	broad.mit.edu	37	6	158363878	158363878	+	3'UTR	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158363878C>T	uc003qqv.1	+	18						NM_016224	NP_057308			sorting nexin 9						cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding				0		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)														---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158492775	158492775	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158492775G>T	uc003qqx.1	+	15	2157	c.2082G>T	c.(2080-2082)AAG>AAT	p.K694N	SYNJ2_uc003qqw.1_Missense_Mutation_p.K694N|SYNJ2_uc003qqy.1_Missense_Mutation_p.K407N|SYNJ2_uc003qqz.1_Missense_Mutation_p.K311N|SYNJ2_uc003qra.1_Missense_Mutation_p.K37N	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	694	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)														---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158507968	158507968	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158507968C>T	uc003qqx.1	+	23	3365	c.3290C>T	c.(3289-3291)TCG>TTG	p.S1097L	SYNJ2_uc003qqw.1_Missense_Mutation_p.S1097L|SYNJ2_uc003qqy.1_Missense_Mutation_p.S810L|SYNJ2_uc003qqz.1_Missense_Mutation_p.S714L|SYNJ2_uc003qra.1_Missense_Mutation_p.S440L|SYNJ2_uc010kjp.1_5'UTR	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	1097	Catalytic (By similarity).						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)														---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158516709	158516709	+	Silent	SNP	G	A	A	rs138770799	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158516709G>A	uc003qqx.1	+	27	3879	c.3804G>A	c.(3802-3804)CCG>CCA	p.P1268P	SYNJ2_uc003qqy.1_Silent_p.P981P|SYNJ2_uc003qqz.1_Silent_p.P885P|SYNJ2_uc003qra.1_Silent_p.P611P|SYNJ2_uc010kjp.1_Silent_p.P151P	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	1268	Catalytic (By similarity).|Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)														---	---	---	---
SYNJ2	8871	broad.mit.edu	37	6	158516907	158516907	+	Silent	SNP	G	A	A	rs3749847		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158516907G>A	uc003qqx.1	+	27	4077	c.4002G>A	c.(4000-4002)CCG>CCA	p.P1334P	SYNJ2_uc003qqy.1_Silent_p.P1047P|SYNJ2_uc003qqz.1_Silent_p.P951P|SYNJ2_uc003qra.1_Silent_p.P677P|SYNJ2_uc010kjp.1_Silent_p.P217P	NM_003898	NP_003889	O15056	SYNJ2_HUMAN	synaptojanin 2	1334	Catalytic (By similarity).|Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			skin(1)	1				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)														---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158902301	158902301	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158902301C>T	uc003qrf.2	+	8	2823	c.1466C>T	c.(1465-1467)CCG>CTG	p.P489L	TULP4_uc011efo.1_Missense_Mutation_p.P489L|TULP4_uc003qrg.2_Missense_Mutation_p.P489L	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	489					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)														---	---	---	---
TULP4	56995	broad.mit.edu	37	6	158924381	158924381	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158924381C>T	uc003qrf.2	+	13	5043	c.3686C>T	c.(3685-3687)CCG>CTG	p.P1229L	TULP4_uc003qrg.2_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	1229					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)														---	---	---	---
EZR	7430	broad.mit.edu	37	6	159191890	159191890	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159191890G>A	uc003qrt.3	-	9	1211	c.996C>T	c.(994-996)ACC>ACT	p.T332T	EZR_uc011efr.1_5'Flank|EZR_uc011efs.1_Silent_p.T300T|EZR_uc003qru.3_Silent_p.T332T	NM_003379	NP_003370	P15311	EZRI_HUMAN	ezrin	332	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding			ovary(1)	1		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)														---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159653582	159653582	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159653582G>A	uc010kjv.2	+	11	2238	c.2038G>A	c.(2038-2040)GTT>ATT	p.V680I	FNDC1_uc010kjw.1_Missense_Mutation_p.V565I	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	680	Ser-rich.					extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)														---	---	---	---
FNDC1	84624	broad.mit.edu	37	6	159672348	159672348	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:159672348T>C	uc010kjv.2	+	17	5049	c.4849T>C	c.(4849-4851)TAC>CAC	p.Y1617H		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1617						extracellular region				large_intestine(4)|ovary(3)|central_nervous_system(1)	8		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)														---	---	---	---
LPA	4018	broad.mit.edu	37	6	160953680	160953680	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160953680A>G	uc003qtl.2	-	39	5964	c.5844T>C	c.(5842-5844)GGT>GGC	p.G1948G		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	4456	Peptidase S1.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)													---	---	---	---
PLG	5340	broad.mit.edu	37	6	161134009	161134009	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161134009C>T	uc003qtm.3	+							NM_000301	NP_000292			plasminogen						extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			skin(3)|ovary(1)	4				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)													---	---	---	---
MAP3K4	4216	broad.mit.edu	37	6	161470974	161470974	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161470974C>T	uc003qtn.2	+	3	1812	c.1670C>T	c.(1669-1671)GCA>GTA	p.A557V	MAP3K4_uc010kkc.1_Missense_Mutation_p.A557V|MAP3K4_uc003qto.2_Missense_Mutation_p.A557V|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	557					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)														---	---	---	---
RPS6KA2	6196	broad.mit.edu	37	6	166944808	166944808	+	Intron	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:166944808A>G	uc003qvb.1	-						RPS6KA2_uc011ego.1_Intron|RPS6KA2_uc010kkl.1_Intron|RPS6KA2_uc003qvc.1_Intron|RPS6KA2_uc003qvd.1_Intron	NM_021135	NP_066958			ribosomal protein S6 kinase, 90kDa, polypeptide						axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)														---	---	---	---
UNC93A	54346	broad.mit.edu	37	6	167719512	167719512	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167719512C>T	uc003qvq.2	+	6	1125	c.950C>T	c.(949-951)ACG>ATG	p.T317M	UNC93A_uc003qvr.2_Missense_Mutation_p.T275M	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	317						integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)														---	---	---	---
UNC93A	54346	broad.mit.edu	37	6	167728784	167728784	+	Silent	SNP	C	T	T	rs112580447		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:167728784C>T	uc003qvq.2	+	8	1393	c.1218C>T	c.(1216-1218)TGC>TGT	p.C406C	UNC93A_uc003qvr.2_Silent_p.C364C	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	unc-93 homolog A isoform 1	406	Helical; (Potential).					integral to membrane|plasma membrane					0		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)														---	---	---	---
SMOC2	64094	broad.mit.edu	37	6	168910766	168910766	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168910766G>A	uc003qws.1	+	2	276	c.256G>A	c.(256-258)GAC>AAC	p.D86N	SMOC2_uc003qwr.1_Missense_Mutation_p.D86N	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	86	Kazal-like.				signal transduction	basement membrane	calcium ion binding			ovary(1)	1		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)														---	---	---	---
FAM120B	84498	broad.mit.edu	37	6	170657408	170657408	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170657408C>T	uc003qxp.2	+	5	2295	c.2187C>T	c.(2185-2187)GTC>GTT	p.V729V	FAM120B_uc003qxo.1_Silent_p.V729V|FAM120B_uc011ehd.1_Silent_p.V61V|FAM120B_uc010kla.1_RNA	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	729					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			ovary(1)	1		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)														---	---	---	---
ADAP1	11033	broad.mit.edu	37	7	943769	943769	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:943769G>A	uc003sjo.3	-	6	818	c.642C>T	c.(640-642)GAC>GAT	p.D214D	ADAP1_uc003sjm.3_Silent_p.D40D|ADAP1_uc011jvs.1_Silent_p.D119D|ADAP1_uc003sjn.3_Silent_p.D142D|ADAP1_uc010ksc.2_Silent_p.D142D	NM_006869	NP_006860	O75689	ADAP1_HUMAN	centaurin, alpha 1	214	PH 1.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			upper_aerodigestive_tract(1)	1																		---	---	---	---
GPER	2852	broad.mit.edu	37	7	1131734	1131734	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1131734T>C	uc010ksd.1	+	2	759	c.370T>C	c.(370-372)TAC>CAC	p.Y124H	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.Y124H|GPER_uc003ska.1_Missense_Mutation_p.Y124H|GPER_uc003skb.2_Missense_Mutation_p.Y124H	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	G protein-coupled receptor 30	124	Extracellular (Potential).					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			ovary(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)														---	---	---	---
UNCX	340260	broad.mit.edu	37	7	1275553	1275553	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1275553C>T	uc011jvw.1	+	3	536	c.536C>T	c.(535-537)CCG>CTG	p.P179L		NM_001080461	NP_001073930	A6NJT0	UNC4_HUMAN	UNC homeobox	179					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)														---	---	---	---
MICALL2	79778	broad.mit.edu	37	7	1474758	1474758	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1474758G>A	uc003skj.3	-	16	2764	c.2617C>T	c.(2617-2619)CGG>TGG	p.R873W	MICALL2_uc003skh.3_Intron|MICALL2_uc003ski.3_Missense_Mutation_p.R360W	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	MICAL-like 2 isoform 1	873						cytoplasm|cytoskeleton	zinc ion binding			central_nervous_system(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)														---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1539535	1539535	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:1539535G>A	uc003skn.2	-	5	770	c.669C>T	c.(667-669)CCC>CCT	p.P223P	INTS1_uc003skq.2_Silent_p.P223P	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	integrator complex subunit 1	223					snRNA processing	integral to membrane|integrator complex|nuclear membrane					0		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)														---	---	---	---
CHST12	55501	broad.mit.edu	37	7	2472430	2472430	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2472430C>T	uc003smc.2	+	2	291	c.156C>T	c.(154-156)CCC>CCT	p.P52P	CHST12_uc003smd.2_Silent_p.P52P	NM_018641	NP_061111	Q9NRB3	CHSTC_HUMAN	carbohydrate sulfotransferase 12	52	Lumenal (Potential).				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding			kidney(1)	1		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)														---	---	---	---
AMZ1	155185	broad.mit.edu	37	7	2752046	2752046	+	Missense_Mutation	SNP	C	T	T	rs141545439		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2752046C>T	uc003smr.1	+	7	1392	c.1031C>T	c.(1030-1032)CCG>CTG	p.P344L	AMZ1_uc003sms.1_Silent_p.P287P|AMZ1_uc011jwa.1_Missense_Mutation_p.P93L	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	344							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)														---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2963864	2963864	+	Intron	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2963864T>C	uc003smv.2	-							NM_032415	NP_115791			caspase recruitment domain family, member 11						positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)				Mis		DLBCL								---	---	---	---
SDK1	221935	broad.mit.edu	37	7	4169722	4169722	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4169722A>G	uc003smx.2	+	27	4261	c.4122A>G	c.(4120-4122)AAA>AAG	p.K1374K	SDK1_uc010kso.2_Silent_p.K650K|SDK1_uc003smy.2_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	1374					cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)														---	---	---	---
TNRC18	84629	broad.mit.edu	37	7	5391706	5391706	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5391706G>A	uc003soi.3	-	17	5563	c.5214C>T	c.(5212-5214)GAC>GAT	p.D1738D	TNRC18_uc003soj.2_Silent_p.D120D	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1738							DNA binding				0		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)														---	---	---	---
RNF216	54476	broad.mit.edu	37	7	5754755	5754755	+	Missense_Mutation	SNP	C	T	T	rs141012211	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:5754755C>T	uc003soy.1	-	11	1781	c.1591G>A	c.(1591-1593)GCA>ACA	p.A531T	RNF216_uc010ksz.1_Missense_Mutation_p.A153T|RNF216_uc010kta.1_Missense_Mutation_p.A153T|RNF216_uc011jwj.1_Missense_Mutation_p.A153T|RNF216_uc003sox.1_Missense_Mutation_p.A588T	NM_207116	NP_996999	Q9NWF9	RN216_HUMAN	ring finger protein 216 isoform b	531	RING-type 1.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus|nucleus	ligase activity|protein binding|protein binding|zinc ion binding			ovary(3)|breast(2)	5		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)														---	---	---	---
AIMP2	7965	broad.mit.edu	37	7	6063069	6063069	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6063069T>C	uc003spo.2	+	4	823	c.710T>C	c.(709-711)GTA>GCA	p.V237A	EIF2AK1_uc003spp.2_3'UTR|EIF2AK1_uc003spq.2_3'UTR	NM_006303	NP_006294	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting	237	GST C-terminal.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			ovary(1)	1																		---	---	---	---
CYTH3	9265	broad.mit.edu	37	7	6205191	6205191	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6205191C>G	uc003spt.2	-	11	1061	c.957G>C	c.(955-957)GAG>GAC	p.E319D	CYTH3_uc011jws.1_Missense_Mutation_p.E234D	NM_004227	NP_004218	O43739	CYH3_HUMAN	cytohesin 3	320	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity				0																		---	---	---	---
CYTH3	9265	broad.mit.edu	37	7	6210221	6210221	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6210221G>A	uc003spt.2	-	9	872	c.768C>T	c.(766-768)AAC>AAT	p.N256N	CYTH3_uc011jws.1_Silent_p.N171N	NM_004227	NP_004218	O43739	CYH3_HUMAN	cytohesin 3	256					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity				0																		---	---	---	---
DAGLB	221955	broad.mit.edu	37	7	6449878	6449878	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6449878C>T	uc003sqa.2	-	14	1873	c.1703G>A	c.(1702-1704)CGC>CAC	p.R568H	DAGLB_uc003spy.2_Missense_Mutation_p.R114H|DAGLB_uc003spz.2_Missense_Mutation_p.R265H|DAGLB_uc011jwt.1_Missense_Mutation_p.R382H|DAGLB_uc011jwu.1_Missense_Mutation_p.R439H|DAGLB_uc003sqb.2_Missense_Mutation_p.R287H|DAGLB_uc003sqc.2_Missense_Mutation_p.R287H|DAGLB_uc011jwv.1_RNA|DAGLB_uc003sqd.3_Missense_Mutation_p.R527H	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	568	Cytoplasmic (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)														---	---	---	---
DAGLB	221955	broad.mit.edu	37	7	6476037	6476037	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:6476037G>A	uc003sqa.2	-	3	545	c.375C>T	c.(373-375)TGC>TGT	p.C125C	DAGLB_uc011jwt.1_5'Flank|DAGLB_uc011jwu.1_Silent_p.C125C|DAGLB_uc003sqb.2_Intron|DAGLB_uc003sqc.2_Intron|DAGLB_uc011jwv.1_Intron|DAGLB_uc003sqd.3_Silent_p.C84C|DAGLB_uc011jww.1_Intron	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta isoform 1	125	Extracellular (Potential).				lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			ovary(2)|central_nervous_system(1)	3		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)														---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11521425	11521425	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:11521425C>T	uc003ssf.3	-	7	2259	c.2007G>A	c.(2005-2007)GCG>GCA	p.A669A		NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	669	TSP type-1 6.|Extracellular (Potential).					integral to membrane				ovary(3)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)											HNSCC(18;0.044)			---	---	---	---
ITGB8	3696	broad.mit.edu	37	7	20371470	20371470	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20371470T>C	uc003suu.2	+	1	746	c.41T>C	c.(40-42)GTC>GCC	p.V14A	ITGB8_uc011jyh.1_Intron|ITGB8_uc003sut.2_Missense_Mutation_p.V14A	NM_002214	NP_002205	P26012	ITB8_HUMAN	integrin, beta 8 precursor	14					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			skin(3)	3																		---	---	---	---
ABCB5	340273	broad.mit.edu	37	7	20793028	20793028	+	Missense_Mutation	SNP	G	A	A	rs142824450	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20793028G>A	uc003suw.3	+	18	2686	c.2140G>A	c.(2140-2142)GGC>AGC	p.G714S	ABCB5_uc010kuh.2_Missense_Mutation_p.G1159S	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	714	Cytoplasmic (Potential).|ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6																		---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21641034	21641034	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21641034T>G	uc003svc.2	+	18	3477	c.3446T>G	c.(3445-3447)TTT>TGT	p.F1149C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1149	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21934560	21934560	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21934560C>T	uc003svc.2	+	80	13044	c.13013C>T	c.(13012-13014)ACG>ATG	p.T4338M		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4338					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---
HOXA3	3200	broad.mit.edu	37	7	27149773	27149773	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:27149773G>A	uc011jzl.1	-	2	687	c.487C>T	c.(487-489)CGA>TGA	p.R163*	HOXA3_uc011jzk.1_Nonsense_Mutation_p.R5*|HOXA3_uc003syk.2_Nonsense_Mutation_p.R163*	NM_030661	NP_109377	O43365	HXA3_HUMAN	homeobox A3 isoform a	163					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)	2																		---	---	---	---
GARS	2617	broad.mit.edu	37	7	30656804	30656804	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30656804T>C	uc003tbm.2	+	10	1626	c.1269T>C	c.(1267-1269)TCT>TCC	p.S423S		NM_002047	NP_002038	P41250	SYG_HUMAN	glycyl-tRNA synthetase	423					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			ovary(1)	1					Glycine(DB00145)													---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31102893	31102893	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31102893G>A	uc003tca.1	+	2	236	c.13G>A	c.(13-15)GTG>ATG	p.V5M	ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.V5M|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.V5M|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.V5M|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.V5M	NM_001118	NP_001109	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1	5					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			ovary(1)	1																		---	---	---	---
KBTBD2	25948	broad.mit.edu	37	7	32909214	32909214	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:32909214G>A	uc003tdb.2	-	4	2274	c.1615C>T	c.(1615-1617)CGA>TGA	p.R539*	AVL9_uc011kai.1_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	539	Kelch 5.										0			GBM - Glioblastoma multiforme(11;0.0499)															---	---	---	---
BMPER	168667	broad.mit.edu	37	7	34118650	34118650	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:34118650G>A	uc011kap.1	+	12	1374	c.1260G>A	c.(1258-1260)TCG>TCA	p.S420S		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	BMP-binding endothelial regulator precursor	420	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				ovary(2)|central_nervous_system(1)	3																		---	---	---	---
EEPD1	80820	broad.mit.edu	37	7	36338783	36338783	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:36338783C>T	uc003tfa.2	+	8	2318	c.1678C>T	c.(1678-1680)CGA>TGA	p.R560*		NM_030636	NP_085139	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family	560					DNA repair		DNA binding				0																		---	---	---	---
AOAH	313	broad.mit.edu	37	7	36671674	36671674	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:36671674C>T	uc003tfh.3	-	6	890	c.489G>A	c.(487-489)CCG>CCA	p.P163P	AOAH_uc010kxf.2_Silent_p.P163P|AOAH_uc011kba.1_Silent_p.P131P	NM_001637	NP_001628	P28039	AOAH_HUMAN	acyloxyacyl hydrolase precursor	163					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			skin(1)	1																		---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37264587	37264587	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37264587G>A	uc003tfk.1	-	9	905	c.598C>T	c.(598-600)CGG>TGG	p.R200W	ELMO1_uc011kbc.1_Missense_Mutation_p.R104W|ELMO1_uc010kxg.1_Missense_Mutation_p.R200W	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	200					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
ELMO1	9844	broad.mit.edu	37	7	37272712	37272712	+	Silent	SNP	C	T	T	rs150348909	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:37272712C>T	uc003tfk.1	-	8	844	c.537G>A	c.(535-537)GCG>GCA	p.A179A	ELMO1_uc011kbc.1_Silent_p.A83A|ELMO1_uc010kxg.1_Silent_p.A179A	NM_014800	NP_055615	Q92556	ELMO1_HUMAN	engulfment and cell motility 1 isoform 1	179					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6																		---	---	---	---
VPS41	27072	broad.mit.edu	37	7	38803065	38803065	+	Missense_Mutation	SNP	C	T	T	rs144752897		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38803065C>T	uc003tgy.2	-	17	1438	c.1412G>A	c.(1411-1413)AGT>AAT	p.S471N	VPS41_uc003tgz.2_Missense_Mutation_p.S446N|VPS41_uc010kxn.2_Missense_Mutation_p.S382N	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	471					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4																		---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42085067	42085067	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:42085067G>A	uc011kbh.1	-	6	833	c.742C>T	c.(742-744)CGC>TGC	p.R248C	GLI3_uc011kbg.1_Missense_Mutation_p.R189C	NM_000168	NP_000159	P10071	GLI3_HUMAN	GLI-Kruppel family member GLI3	248					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														Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome				---	---	---	---
C7orf25	79020	broad.mit.edu	37	7	42950466	42950466	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:42950466C>T	uc003thw.2	-	2	498	c.34G>A	c.(34-36)GCC>ACC	p.A12T	C7orf25_uc010kxq.2_Missense_Mutation_p.A12T|C7orf25_uc003thx.3_Missense_Mutation_p.A70T|C7orf25_uc010kxr.2_Missense_Mutation_p.A70T	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN	hypothetical protein LOC79020 b	12										skin(1)	1																		---	---	---	---
URGCP	55665	broad.mit.edu	37	7	43917744	43917744	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:43917744G>A	uc003tiw.2	-	6	1375	c.1318C>T	c.(1318-1320)CGG>TGG	p.R440W	URGCP_uc003tiu.2_Missense_Mutation_p.R397W|URGCP_uc003tiv.2_Missense_Mutation_p.R365W|URGCP_uc003tix.2_Missense_Mutation_p.R431W|URGCP_uc003tiy.2_Missense_Mutation_p.R397W|URGCP_uc003tiz.2_Missense_Mutation_p.R397W|URGCP_uc011kbj.1_Missense_Mutation_p.R397W	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	up-regulated gene 4 isoform 3	440					cell cycle	centrosome|nucleus	GTP binding			ovary(2)|liver(1)|skin(1)	4																		---	---	---	---
DBNL	28988	broad.mit.edu	37	7	44098517	44098517	+	Missense_Mutation	SNP	C	T	T	rs112769270		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44098517C>T	uc003tjp.3	+	9	868	c.770C>T	c.(769-771)CCG>CTG	p.P257L	DBNL_uc003tjn.2_Missense_Mutation_p.P129L|DBNL_uc003tjo.3_Missense_Mutation_p.P258L|DBNL_uc003tjr.3_Missense_Mutation_p.P130L|DBNL_uc003tjq.3_Missense_Mutation_p.P266L|DBNL_uc011kbm.1_Missense_Mutation_p.P233L|DBNL_uc011kbn.1_Missense_Mutation_p.P154L|DBNL_uc011kbo.1_Missense_Mutation_p.P158L|DBNL_uc011kbp.1_Missense_Mutation_p.P209L|DBNL_uc011kbq.1_Missense_Mutation_p.P182L|DBNL_uc011kbr.1_Missense_Mutation_p.P206L|DBNL_uc011kbs.1_Missense_Mutation_p.P162L	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	drebrin-like isoform b	257					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			skin(1)	1																		---	---	---	---
AEBP1	165	broad.mit.edu	37	7	44150526	44150526	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44150526C>T	uc003tkb.2	+	13	1805	c.1500C>T	c.(1498-1500)AAC>AAT	p.N500N	AEBP1_uc003tkc.3_Silent_p.N43N|AEBP1_uc003tkd.2_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	adipocyte enhancer binding protein 1 precursor	500	Required for DNA-binding and interaction with NFKBIA (By similarity).|F5/8 type C.|Interaction with MAPK1 and MAPK3 (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---
GCK	2645	broad.mit.edu	37	7	44185241	44185241	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44185241C>T	uc003tkl.2	-	9	1578	c.1108G>A	c.(1108-1110)GCC>ACC	p.A370T	GCK_uc003tkh.1_Missense_Mutation_p.A43T|GCK_uc003tki.1_Missense_Mutation_p.A48T|GCK_uc003tkj.1_Missense_Mutation_p.A369T|GCK_uc003tkk.1_Missense_Mutation_p.A371T	NM_000162	NP_000153	P35557	HXK4_HUMAN	glucokinase isoform 1	370					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			skin(3)|lung(1)	4																		---	---	---	---
NPC1L1	29881	broad.mit.edu	37	7	44556853	44556853	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44556853C>T	uc003tlb.2	-	16	3377	c.3321G>A	c.(3319-3321)CTG>CTA	p.L1107L	NPC1L1_uc003tlc.2_Silent_p.L1080L|NPC1L1_uc011kbw.1_Silent_p.L1034L|NPC1L1_uc003tla.2_Silent_p.L83L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	1107	Cytoplasmic (Potential).				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			ovary(3)|central_nervous_system(1)|skin(1)	5					Ezetimibe(DB00973)													---	---	---	---
DDX56	54606	broad.mit.edu	37	7	44607782	44607782	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44607782C>T	uc003tlg.2	-	12	2067	c.1424G>A	c.(1423-1425)CGG>CAG	p.R475Q	DDX56_uc003tle.2_RNA|DDX56_uc003tlf.2_Missense_Mutation_p.R411Q|DDX56_uc003tlh.2_RNA|DDX56_uc010kyg.2_Missense_Mutation_p.R435Q	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 56	475					rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			upper_aerodigestive_tract(1)	1																		---	---	---	---
MYO1G	64005	broad.mit.edu	37	7	45005749	45005749	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:45005749G>A	uc003tmh.2	-	16	2224	c.2080C>T	c.(2080-2082)CGC>TGC	p.R694C	MYO1G_uc003tmf.2_Missense_Mutation_p.R137C|MYO1G_uc003tmg.2_Missense_Mutation_p.R456C|MYO1G_uc010kym.2_Missense_Mutation_p.R579C|MYO1G_uc003tmi.1_3'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	myosin IG	694						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
TNS3	64759	broad.mit.edu	37	7	47463779	47463779	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47463779G>A	uc003tnv.2	-	10	760	c.393C>T	c.(391-393)GCC>GCT	p.A131A	TNS3_uc003tnw.2_Silent_p.A131A|TNS3_uc010kyo.1_Silent_p.A131A	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	tensin 3	131	Phosphatase tensin-type.					focal adhesion	protein binding			ovary(4)	4																		---	---	---	---
PKD1L1	168507	broad.mit.edu	37	7	47884594	47884594	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:47884594T>C	uc003tny.1	-	33	5236	c.5236A>G	c.(5236-5238)AGC>GGC	p.S1746G		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	polycystin-1L1	1746	Extracellular (Potential).				cell-cell adhesion	integral to membrane				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11																		---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48654929	48654929	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48654929C>T	uc003toq.2	+	59	14818	c.14793C>T	c.(14791-14793)AAC>AAT	p.N4931N	ABCA13_uc010kys.1_Silent_p.N2006N|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Silent_p.N661N	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	ATP binding cassette, sub-family A (ABC1),	4931	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			ovary(5)|central_nervous_system(4)|skin(1)	10																		---	---	---	---
ZPBP	11055	broad.mit.edu	37	7	50097611	50097611	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:50097611C>T	uc003tou.2	-	4	531	c.461G>A	c.(460-462)CGT>CAT	p.R154H	ZPBP_uc011kci.1_Missense_Mutation_p.R80H|ZPBP_uc010kyw.2_Missense_Mutation_p.R153H	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	154					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)																	---	---	---	---
SEPT14	346288	broad.mit.edu	37	7	55910750	55910750	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:55910750C>T	uc003tqz.2	-	5	560	c.443G>A	c.(442-444)CGT>CAT	p.R148H		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	septin 14	148					cell cycle|cell division	septin complex	GTP binding|protein binding				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
MRPS17	51373	broad.mit.edu	37	7	56022814	56022814	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56022814G>A	uc003trd.2	+	3	366	c.336G>A	c.(334-336)TCG>TCA	p.S112S	MRPS17_uc003trb.2_Silent_p.S207S	NM_015969	NP_057053	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17 precursor	112					translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome				0	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
PSPH	5723	broad.mit.edu	37	7	56088813	56088813	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:56088813G>A	uc003trg.2	-	3	456	c.93C>T	c.(91-93)ATC>ATT	p.I31I	PSPH_uc003trh.2_Silent_p.I31I|PSPH_uc003tri.2_Silent_p.I31I|PSPH_uc003trj.2_Silent_p.I60I	NM_004577	NP_004568	P78330	SERB_HUMAN	phosphoserine phosphatase	31					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			ovary(1)|skin(1)	2	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)															---	---	---	---
AUTS2	26053	broad.mit.edu	37	7	70255651	70255651	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:70255651A>T	uc003tvw.3	+	19	4192	c.3449A>T	c.(3448-3450)GAC>GTC	p.D1150V	AUTS2_uc003tvx.3_Missense_Mutation_p.D1126V|AUTS2_uc011keg.1_Missense_Mutation_p.D602V	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2 isoform 1	1150	His-rich.									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)														---	---	---	---
FKBP6	8468	broad.mit.edu	37	7	72744212	72744212	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72744212A>G	uc003tya.2	+	4	457	c.325A>G	c.(325-327)AGG>GGG	p.R109G	FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Missense_Mutation_p.R104G|FKBP6_uc010lbe.1_RNA|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	NM_003602	NP_003593	O75344	FKBP6_HUMAN	FK506 binding protein 6 isoform a	109	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity				0		Lung NSC(55;0.0908)|all_lung(88;0.198)																---	---	---	---
PMS2L3	5387	broad.mit.edu	37	7	75157077	75157077	+	5'UTR	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75157077C>T	uc003udp.2	-	1					PMS2L3_uc003udn.2_Intron|PMS2L3_uc003udq.2_5'UTR|PMS2L3_uc003udr.1_RNA	NM_005395	NP_005386			SubName: Full=Postmeiotic segregation increased 2-like 3; SubName: Full=Postmeiotic segregation increased 2-like 3, isoform CRA_b;												0													Direct_reversal_of_damage|MMR					---	---	---	---
STYXL1	51657	broad.mit.edu	37	7	75630223	75630223	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:75630223G>A	uc003uej.3	-	8	968	c.795C>T	c.(793-795)AAC>AAT	p.N265N	STYXL1_uc003uef.2_Silent_p.N55N|STYXL1_uc011kgf.1_Intron|STYXL1_uc011kgg.1_Intron|STYXL1_uc003ueh.2_Silent_p.N127N|STYXL1_uc003uek.3_Silent_p.N169N|STYXL1_uc003uel.2_Silent_p.N265N|STYXL1_uc003uem.2_Silent_p.N265N|STYXL1_uc010ldg.1_RNA|STYXL1_uc010ldh.1_Silent_p.N265N|STYXL1_uc003uen.1_Silent_p.N249N	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	map kinase phosphatase-like protein MK-STYX	265	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity				0																		---	---	---	---
SEMA3E	9723	broad.mit.edu	37	7	83032029	83032029	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:83032029G>A	uc003uhy.1	-	10	1528	c.1062C>T	c.(1060-1062)AAC>AAT	p.N354N		NM_012431	NP_036563	O15041	SEM3E_HUMAN	semaphorin 3E precursor	354	Sema.				axon guidance	extracellular space|membrane	receptor activity			ovary(3)	3		Medulloblastoma(109;0.109)																---	---	---	---
DBF4	10926	broad.mit.edu	37	7	87530094	87530094	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87530094C>T	uc003ujf.1	+	10	1329	c.825C>T	c.(823-825)GGC>GGT	p.G275G	DBF4_uc003ujh.1_Silent_p.G15G|DBF4_uc003ujg.1_Silent_p.G51G|DBF4_uc011khf.1_Silent_p.G42G	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	activator of S phase kinase	275					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			lung(2)	2	Esophageal squamous(14;0.00202)	Breast(660;0.0334)																---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87808307	87808307	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:87808307C>T	uc003ujn.2	+	27	2437	c.2358C>T	c.(2356-2358)AGC>AGT	p.S786S	ADAM22_uc003ujk.1_Silent_p.S786S|ADAM22_uc003ujl.1_Intron|ADAM22_uc003ujm.2_Intron|ADAM22_uc003ujo.2_Intron|ADAM22_uc003ujp.1_Silent_p.S838S	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22 isoform 1	786	Cytoplasmic (Potential).				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			ovary(4)|skin(2)|lung(1)|kidney(1)	8	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91732083	91732083	+	Missense_Mutation	SNP	G	A	A	rs141856443	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:91732083G>A	uc003ulg.2	+	46	11498	c.11273G>A	c.(11272-11274)CGC>CAC	p.R3758H	AKAP9_uc003ulf.2_Missense_Mutation_p.R3750H|AKAP9_uc003uli.2_Missense_Mutation_p.R3381H|AKAP9_uc003ulj.2_Missense_Mutation_p.R1528H|AKAP9_uc003ull.2_Missense_Mutation_p.R654H	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3762					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.R3762H(1)|p.R3758H(1)		breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)					T	BRAF	papillary thyroid								---	---	---	---
SAMD9	54809	broad.mit.edu	37	7	92731338	92731338	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92731338G>A	uc003umf.2	-	3	4329	c.4073C>T	c.(4072-4074)GCT>GTT	p.A1358V	SAMD9_uc003umg.2_Missense_Mutation_p.A1358V	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1358						cytoplasm				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92762803	92762803	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92762803G>A	uc003umh.1	-	5	3698	c.2482C>T	c.(2482-2484)CGA>TGA	p.R828*	SAMD9L_uc003umj.1_Nonsense_Mutation_p.R828*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.R828*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.R828*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.R828*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.R828*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.R828*|SAMD9L_uc011khx.1_Intron	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	828										ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92765100	92765100	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92765100C>A	uc003umh.1	-	5	1401	c.185G>T	c.(184-186)TGG>TTG	p.W62L	SAMD9L_uc003umj.1_Missense_Mutation_p.W62L|SAMD9L_uc003umi.1_Missense_Mutation_p.W62L|SAMD9L_uc010lfb.1_Missense_Mutation_p.W62L|SAMD9L_uc003umk.1_Missense_Mutation_p.W62L|SAMD9L_uc010lfc.1_Missense_Mutation_p.W62L|SAMD9L_uc010lfd.1_Missense_Mutation_p.W62L|SAMD9L_uc011khx.1_Missense_Mutation_p.W53L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	62	SAM.									ovary(4)	4	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)															---	---	---	---
SLC25A13	10165	broad.mit.edu	37	7	95822392	95822392	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:95822392C>T	uc003uof.3	-	6	763	c.572G>A	c.(571-573)CGC>CAC	p.R191H	SLC25A13_uc003uog.3_Missense_Mutation_p.R191H|SLC25A13_uc011kik.1_Missense_Mutation_p.R83H	NM_014251	NP_055066	Q9UJS0	CMC2_HUMAN	solute carrier family 25, member 13 isoform 2	191	EF-hand 4.				ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			central_nervous_system(3)|skin(1)	4	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)													---	---	---	---
DLX5	1749	broad.mit.edu	37	7	96651486	96651486	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:96651486G>A	uc003uon.2	-						DLX5_uc011kim.1_Missense_Mutation_p.A184V	NM_005221	NP_005212			distal-less homeobox 5						cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			ovary(1)	1	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)																	---	---	---	---
TECPR1	25851	broad.mit.edu	37	7	97862157	97862157	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:97862157G>A	uc003upg.2	-	12	2005	c.1800C>T	c.(1798-1800)TAC>TAT	p.Y600Y	TECPR1_uc003uph.1_Silent_p.Y530Y	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	600						integral to membrane	protein binding			pancreas(1)	1																		---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98491440	98491440	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98491440T>C	uc003upp.2	+	6	595	c.386T>C	c.(385-387)GTT>GCT	p.V129A	TRRAP_uc011kis.1_Missense_Mutation_p.V129A	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	129					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98565270	98565270	+	Silent	SNP	G	A	A	rs55747560		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98565270G>A	uc003upp.2	+	50	7649	c.7440G>A	c.(7438-7440)TCG>TCA	p.S2480S	TRRAP_uc011kis.1_Silent_p.S2462S|TRRAP_uc003upr.2_Silent_p.S2179S	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	2480					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)															---	---	---	---
SPDYE3	441272	broad.mit.edu	37	7	99913460	99913460	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99913460A>G	uc003uug.1	+	2	363	c.123A>G	c.(121-123)TCA>TCG	p.S41S		NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	speedy homolog E3	418											0																		---	---	---	---
ACTL6B	51412	broad.mit.edu	37	7	100247661	100247661	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100247661G>A	uc003uvy.2	-	5	574	c.467C>T	c.(466-468)GCC>GTC	p.A156V	ACTL6B_uc003uvx.1_5'Flank|ACTL6B_uc003uvz.2_RNA	NM_016188	NP_057272	O94805	ACL6B_HUMAN	actin-like 6B	156					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			ovary(1)	1	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)																	---	---	---	---
EPHB4	2050	broad.mit.edu	37	7	100405169	100405169	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100405169C>T	uc003uwn.1	-	13	2643	c.2152G>A	c.(2152-2154)GTG>ATG	p.V718M	EPHB4_uc003uwm.1_Missense_Mutation_p.V625M|EPHB4_uc010lhj.1_Missense_Mutation_p.V718M	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	718	Cytoplasmic (Potential).|Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)																	---	---	---	---
EPHB4	2050	broad.mit.edu	37	7	100411288	100411288	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100411288T>C	uc003uwn.1	-	10	2233	c.1742A>G	c.(1741-1743)TAT>TGT	p.Y581C	EPHB4_uc003uwm.1_Missense_Mutation_p.Y488C|EPHB4_uc010lhj.1_Missense_Mutation_p.Y581C	NM_004444	NP_004435	P54760	EPHB4_HUMAN	EPH receptor B4 precursor	581	Cytoplasmic (Potential).				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15	Lung NSC(181;0.041)|all_lung(186;0.0581)																	---	---	---	---
SLC12A9	56996	broad.mit.edu	37	7	100453339	100453339	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100453339C>T	uc003uwp.2	+	4	470	c.328C>T	c.(328-330)CGC>TGC	p.R110C	SLC12A9_uc003uwo.1_Intron|SLC12A9_uc003uwq.2_Intron|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	solute carrier family 12 (potassium/chloride	110	Cytoplasmic (Potential).					integral to membrane|plasma membrane	cation:chloride symporter activity				0	Lung NSC(181;0.041)|all_lung(186;0.0581)																	---	---	---	---
ACHE	43	broad.mit.edu	37	7	100491048	100491048	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100491048G>A	uc003uxd.2	-	1	962	c.806C>T	c.(805-807)ACG>ATG	p.T269M	ACHE_uc003uxe.2_Missense_Mutation_p.T269M|ACHE_uc003uxf.2_Missense_Mutation_p.T269M|ACHE_uc003uxg.2_Missense_Mutation_p.T269M|ACHE_uc003uxh.2_Missense_Mutation_p.T269M|ACHE_uc003uxi.2_Missense_Mutation_p.T269M|ACHE_uc003uxj.1_Missense_Mutation_p.T388M	NM_000665	NP_000656	P22303	ACES_HUMAN	acetylcholinesterase isoform E4-E6 precursor	269					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			skin(2)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)													---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100694940	100694940	+	Silent	SNP	G	A	A	rs149949866		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:100694940G>A	uc003uxp.1	+	8	12974	c.12921G>A	c.(12919-12921)ACG>ACA	p.T4307T	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	4307	Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)																	---	---	---	---
FBXL13	222235	broad.mit.edu	37	7	102616519	102616519	+	Intron	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:102616519G>T	uc003vaq.2	-						FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|FBXL13_uc003vav.2_Intron	NM_145032	NP_659469			F-box and leucine-rich repeat protein 13 isoform												0																		---	---	---	---
RELN	5649	broad.mit.edu	37	7	103175866	103175866	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103175866G>A	uc003vca.2	-	46	7406	c.7246C>T	c.(7246-7248)CCT>TCT	p.P2416S	RELN_uc010liz.2_Missense_Mutation_p.P2416S	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	2416					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			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---
DOCK4	9732	broad.mit.edu	37	7	111398724	111398724	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:111398724G>A	uc003vfx.2	-	40	4527	c.4258C>T	c.(4258-4260)CGA>TGA	p.R1420*	DOCK4_uc011kml.1_Nonsense_Mutation_p.R301*|DOCK4_uc011kmm.1_Nonsense_Mutation_p.R327*|DOCK4_uc003vfw.2_Nonsense_Mutation_p.R870*|DOCK4_uc003vfy.2_Nonsense_Mutation_p.R1465*	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1420	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4		Acute lymphoblastic leukemia(1;0.0441)																---	---	---	---
KCND2	3751	broad.mit.edu	37	7	119915126	119915126	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:119915126G>A	uc003vjj.1	+	1	1405	c.440G>A	c.(439-441)CGC>CAC	p.R147H		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	147	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)																	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121616899	121616899	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121616899C>T	uc003vjy.2	+	6	1008	c.613C>T	c.(613-615)CGT>TGT	p.R205C	PTPRZ1_uc003vjz.2_Missense_Mutation_p.R205C	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	205	Extracellular (Potential).|Alpha-carbonic anhydrase.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9																		---	---	---	---
SLC13A1	6561	broad.mit.edu	37	7	122809246	122809246	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122809246A>G	uc003vkm.2	-	4	534	c.509T>C	c.(508-510)ATG>ACG	p.M170T	SLC13A1_uc010lks.2_5'UTR	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate	170						integral to membrane|plasma membrane	sodium:sulfate symporter activity			ovary(2)	2					Succinic acid(DB00139)													---	---	---	---
HYAL4	23553	broad.mit.edu	37	7	123516944	123516944	+	Missense_Mutation	SNP	C	T	T	rs150077532	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:123516944C>T	uc003vlc.2	+	5	1819	c.1181C>T	c.(1180-1182)GCG>GTG	p.A394V	HYAL4_uc011knz.1_3'UTR	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	394	Extracellular (Potential).				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			skin(1)	1																		---	---	---	---
POT1	25913	broad.mit.edu	37	7	124493078	124493078	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:124493078G>A	uc003vlm.2	-	10	1418	c.817C>T	c.(817-819)CGG>TGG	p.R273W	POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.R142W|POT1_uc003vln.2_RNA	NM_015450	NP_056265	Q9NUX5	POTE1_HUMAN	protection of telomeres 1 isoform 1	273	DNA binding.				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			central_nervous_system(1)	1																		---	---	---	---
IMPDH1	3614	broad.mit.edu	37	7	128038456	128038456	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128038456C>T	uc011kol.1	-						IMPDH1_uc011kom.1_Intron|IMPDH1_uc003vmt.2_Intron|IMPDH1_uc003vmu.2_Intron|IMPDH1_uc003vmw.2_Intron|IMPDH1_uc011kon.1_Intron|IMPDH1_uc003vmv.2_Intron|IMPDH1_uc003vmx.2_Intron|IMPDH1_uc003vmy.2_Intron	NM_001142573	NP_001136045			inosine monophosphate dehydrogenase 1 isoform e						GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			skin(2)|lung(1)|central_nervous_system(1)	4					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CALU	813	broad.mit.edu	37	7	128394342	128394342	+	Intron	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128394342A>G	uc003vns.2	+						CALU_uc003vnq.2_Missense_Mutation_p.D83G|CALU_uc003vnr.2_Missense_Mutation_p.D83G	NM_001130674	NP_001124146			calumenin isoform b precursor						platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding				0																		---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128441373	128441373	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128441373C>T	uc003vnv.1	+	4	847	c.480C>T	c.(478-480)TCC>TCT	p.S160S	CCDC136_uc003vnu.1_Silent_p.S210S|CCDC136_uc003vnw.1_Silent_p.S160S|CCDC136_uc003vnx.1_5'UTR|CCDC136_uc010llq.1_5'UTR	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	160	Glu-rich.					integral to membrane	protein binding			ovary(2)	2																		---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128475589	128475589	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128475589G>A	uc003vnz.3	+	2	771	c.562G>A	c.(562-564)GGC>AGC	p.G188S	FLNC_uc003voa.3_Missense_Mutation_p.G188S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	188	CH 2.|Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12																		---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128485030	128485030	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128485030G>A	uc003vnz.3	+	21	3720	c.3511G>A	c.(3511-3513)GGT>AGT	p.G1171S	FLNC_uc003voa.3_Missense_Mutation_p.G1171S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	1171	Filamin 10.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12																		---	---	---	---
FLNC	2318	broad.mit.edu	37	7	128498535	128498535	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128498535C>T	uc003vnz.3	+	48	8345	c.8136C>T	c.(8134-8136)GAC>GAT	p.D2712D	FLNC_uc003voa.3_Silent_p.D2679D	NM_001458	NP_001449	Q14315	FLNC_HUMAN	gamma filamin isoform a	2712	Interaction with INPPL1.|Filamin 24.|Self-association site, tail (By similarity).				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1)	12																		---	---	---	---
TMEM209	84928	broad.mit.edu	37	7	129813656	129813656	+	Intron	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129813656G>T	uc003vpn.2	-						TMEM209_uc010lmc.1_Intron	NM_032842	NP_116231			transmembrane protein 209							integral to membrane				ovary(2)|large_intestine(1)	3	Melanoma(18;0.0435)																	---	---	---	---
PLXNA4	91584	broad.mit.edu	37	7	131908289	131908289	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:131908289G>A	uc003vra.3	-	9	2323	c.2094C>T	c.(2092-2094)CCC>CCT	p.P698P		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	698	PSI 2.|Extracellular (Potential).					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---
NUP205	23165	broad.mit.edu	37	7	135302378	135302378	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135302378T>C	uc003vsw.2	+	27	3750	c.3719T>C	c.(3718-3720)GTA>GCA	p.V1240A	NUP205_uc003vsx.2_5'Flank	NM_015135	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1240					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
SLC13A4	26266	broad.mit.edu	37	7	135406244	135406244	+	Missense_Mutation	SNP	C	T	T	rs139276749		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:135406244C>T	uc003vta.2	-	2	816	c.127G>A	c.(127-129)GTG>ATG	p.V43M	SLC13A4_uc003vtb.2_Missense_Mutation_p.V43M|SLC13A4_uc003vtc.1_Missense_Mutation_p.V43M	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate	43						integral to plasma membrane	sodium:sulfate symporter activity				0																		---	---	---	---
TRIM24	8805	broad.mit.edu	37	7	138235817	138235817	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:138235817C>T	uc003vuc.2	+	8	1368	c.1153C>T	c.(1153-1155)CGG>TGG	p.R385W	TRIM24_uc003vub.2_Missense_Mutation_p.R385W	NM_015905	NP_056989	O15164	TIF1A_HUMAN	transcriptional intermediary factor 1 alpha	385					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8																		---	---	---	---
EPHA1	2041	broad.mit.edu	37	7	143090863	143090863	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143090863T>C	uc003wcz.2	-	16	2684	c.2597A>G	c.(2596-2598)GAC>GGC	p.D866G		NM_005232	NP_005223	P21709	EPHA1_HUMAN	ephrin receptor EphA1 precursor	866	Protein kinase.|Cytoplasmic (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			ovary(3)|lung(1)|breast(1)	5	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)																---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147926752	147926752	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:147926752C>T	uc003weu.1	+	20	3778	c.3262C>T	c.(3262-3264)CGA>TGA	p.R1088*		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	1088	Laminin G-like 4.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)												HNSCC(39;0.1)			---	---	---	---
ZNF425	155054	broad.mit.edu	37	7	148801216	148801216	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:148801216C>T	uc003wfj.2	-	4	1820	c.1747G>A	c.(1747-1749)GCG>ACG	p.A583T		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	zinc finger protein 425	583	C2H2-type 14.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(2)|ovary(1)	3	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)															---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149512259	149512259	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149512259G>A	uc010lpk.2	+							NM_198455	NP_940857			SCO-spondin precursor						cell adhesion	extracellular space	peptidase inhibitor activity				0	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)															---	---	---	---
REPIN1	29803	broad.mit.edu	37	7	150068868	150068868	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150068868G>A	uc010lpq.1	+	4	1027	c.538G>A	c.(538-540)GGC>AGC	p.G180S	REPIN1_uc003whd.2_Missense_Mutation_p.G169S|REPIN1_uc010lpr.1_Missense_Mutation_p.G237S|REPIN1_uc003whc.2_Missense_Mutation_p.G180S|REPIN1_uc003whe.2_Missense_Mutation_p.G180S	NM_013400	NP_037532	Q9BWE0	REPI1_HUMAN	replication initiator 1 isoform 1	180	C2H2-type 5.				DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			pancreas(1)	1	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)															---	---	---	---
GIMAP6	474344	broad.mit.edu	37	7	150324881	150324881	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150324881G>A	uc003whn.2	-	3	1229	c.805C>T	c.(805-807)CTG>TTG	p.L269L	GIMAP6_uc003whm.2_Silent_p.L189L	NM_024711	NP_078987	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	269							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)														---	---	---	---
ABCB8	11194	broad.mit.edu	37	7	150737658	150737658	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150737658G>T	uc003wil.3	+	12	1469	c.1376G>T	c.(1375-1377)GGG>GTG	p.G459V	ABCB8_uc010lpw.1_Missense_Mutation_p.G331V|ABCB8_uc010lpx.2_Missense_Mutation_p.G442V|ABCB8_uc011kvd.1_Missense_Mutation_p.G354V|ABCB8_uc003wim.3_Missense_Mutation_p.G237V|ABCB8_uc003wik.3_Missense_Mutation_p.G442V	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B, member 8	459						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
AGAP3	116988	broad.mit.edu	37	7	150815698	150815698	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150815698C>T	uc003wjg.1	+	7	951	c.948C>T	c.(946-948)ATC>ATT	p.I316I	AGAP3_uc003wje.1_Silent_p.I88I|AGAP3_uc003wjf.1_Silent_p.I316I|AGAP3_uc010lpy.1_Silent_p.I316I|AGAP3_uc003wjh.1_Silent_p.I496I|AGAP3_uc003wji.1_5'Flank	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	centaurin, gamma 3 isoform a	280	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|ovary(1)	3																		---	---	---	---
CHPF2	54480	broad.mit.edu	37	7	150932674	150932674	+	Silent	SNP	C	T	T	rs113511143		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150932674C>T	uc003wjr.1	+	2	2317	c.804C>T	c.(802-804)GGC>GGT	p.G268G	CHPF2_uc003wjq.1_Silent_p.G260G|MIR671_hsa-mir-671|MI0003760_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	268	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			ovary(1)	1																		---	---	---	---
SMARCD3	6604	broad.mit.edu	37	7	150939072	150939072	+	Intron	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150939072G>T	uc003wjs.2	-						SMARCD3_uc003wjt.2_Intron|SMARCD3_uc003wju.2_Intron|SMARCD3_uc011kvh.1_Intron|SMARCD3_uc010lqa.1_Intron	NM_001003801	NP_001003801			SWI/SNF related, matrix associated, actin						cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			ovary(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---
RHEB	6009	broad.mit.edu	37	7	151164247	151164247	+	Silent	SNP	G	A	A	rs143352740		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151164247G>A	uc003wkh.1	-	8	926	c.513C>T	c.(511-513)GAC>GAT	p.D171D		NM_005614	NP_005605	Q15382	RHEB_HUMAN	Ras homolog enriched in brain precursor	171					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			large_intestine(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)														---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151880166	151880166	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151880166G>A	uc003wla.2	-	35	5377	c.5158C>T	c.(5158-5160)CAA>TAA	p.Q1720*	MLL3_uc003wkz.2_Nonsense_Mutation_p.Q781*	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1720	Gln-rich.				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)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151896515	151896515	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151896515A>T	uc003wla.2	-	27	4341	c.4122T>A	c.(4120-4122)GAT>GAA	p.D1374E	MLL3_uc003wkz.2_Missense_Mutation_p.D435E	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	1374					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)				N		medulloblastoma								---	---	---	---
MLL3	58508	broad.mit.edu	37	7	151945174	151945174	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151945174G>T	uc003wla.2	-	14	2564	c.2345C>A	c.(2344-2346)TCT>TAT	p.S782Y		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	782					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)				N		medulloblastoma								---	---	---	---
XRCC2	7516	broad.mit.edu	37	7	152346023	152346023	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:152346023G>A	uc003wld.2	-	3	633	c.547C>T	c.(547-549)CTT>TTT	p.L183F		NM_005431	NP_005422	O43543	XRCC2_HUMAN	X-ray repair cross complementing protein 2	183					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			breast(1)|liver(1)	2		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)									Homologous_recombination					---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154672656	154672656	+	Intron	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:154672656A>T	uc003wlk.2	+						DPP6_uc003wli.2_Intron|DPP6_uc003wlm.2_Intron|DPP6_uc011kvq.1_Intron	NM_130797	NP_570629			dipeptidyl-peptidase 6 isoform 1						cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)															---	---	---	---
DPP6	1804	broad.mit.edu	37	7	154677391	154677391	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:154677391A>G	uc003wlk.2	+	22	2311	c.2182A>G	c.(2182-2184)AAT>GAT	p.N728D	DPP6_uc003wli.2_Missense_Mutation_p.N664D|DPP6_uc003wlm.2_Missense_Mutation_p.N666D|DPP6_uc011kvq.1_Missense_Mutation_p.N621D	NM_130797	NP_570629	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6 isoform 1	728	Extracellular (Potential).				cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			pancreas(3)|breast(1)	4	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)															---	---	---	---
NOM1	64434	broad.mit.edu	37	7	156754923	156754923	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:156754923G>A	uc003wmy.2	+	5	1726	c.1711G>A	c.(1711-1713)GTG>ATG	p.V571M	NOM1_uc010lqp.1_Missense_Mutation_p.V20M	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	571					RNA metabolic process	nucleolus	protein binding				0	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)														---	---	---	---
MNX1	3110	broad.mit.edu	37	7	156798526	156798526	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:156798526G>A	uc003wnd.1	-	3	1197	c.894C>T	c.(892-894)CGC>CGT	p.R298R	MNX1_uc003wmz.2_Intron|MNX1_uc003wna.2_Intron|MNX1_uc010lqq.1_Silent_p.R91R|MNX1_uc003wnc.1_Silent_p.R86R|MNX1_uc010lqr.1_RNA	NM_005515	NP_005506	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1 isoform 1	298	Homeobox.				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)										Currarino_syndrome				---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	157387999	157387999	+	Silent	SNP	G	A	A	rs140246794	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:157387999G>A	uc003wno.2	-	17	2548	c.2427C>T	c.(2425-2427)CAC>CAT	p.H809H	PTPRN2_uc003wnp.2_Silent_p.H792H|PTPRN2_uc003wnq.2_Silent_p.H780H|PTPRN2_uc003wnr.2_Silent_p.H771H|PTPRN2_uc011kwa.1_Silent_p.H832H	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	809	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)														---	---	---	---
PTPRN2	5799	broad.mit.edu	37	7	158109560	158109560	+	Silent	SNP	G	A	A	rs144846771	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:158109560G>A	uc003wno.2	-	3	349	c.228C>T	c.(226-228)CCC>CCT	p.P76P	PTPRN2_uc003wnp.2_Silent_p.P59P|PTPRN2_uc003wnq.2_Silent_p.P76P|PTPRN2_uc003wnr.2_Intron|PTPRN2_uc011kwa.1_Silent_p.P99P	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N	76	Extracellular (Potential).					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			ovary(4)|large_intestine(1)|pleura(1)|skin(1)	7	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)														---	---	---	---
ESYT2	57488	broad.mit.edu	37	7	158557481	158557481	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:158557481C>A	uc003wob.1	-	9	1198	c.1132G>T	c.(1132-1134)GGA>TGA	p.G378*	ESYT2_uc003woc.1_Nonsense_Mutation_p.G202*|ESYT2_uc003wod.1_Nonsense_Mutation_p.G378*|ESYT2_uc003woa.1_5'Flank	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	family with sequence similarity 62 (C2 domain	406	C2 1.					integral to membrane|plasma membrane				central_nervous_system(2)|kidney(1)	3																		---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1833852	1833852	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1833852C>T	uc003wpr.2	+	11	1339	c.1161C>T	c.(1159-1161)CCC>CCT	p.P387P	ARHGEF10_uc003wpq.1_Silent_p.P412P|ARHGEF10_uc003wps.2_Silent_p.P349P|ARHGEF10_uc003wpt.2_Silent_p.P263P|ARHGEF10_uc003wpv.2_Silent_p.P120P|ARHGEF10_uc010lre.2_Silent_p.P67P	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	412					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1851509	1851509	+	Silent	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1851509A>C	uc003wpr.2	+	16	1891	c.1713A>C	c.(1711-1713)ACA>ACC	p.T571T	ARHGEF10_uc003wpq.1_Silent_p.T595T|ARHGEF10_uc003wps.2_Silent_p.T533T|ARHGEF10_uc003wpt.2_Silent_p.T447T|ARHGEF10_uc003wpv.2_Silent_p.T304T|ARHGEF10_uc010lre.2_Silent_p.T251T	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	596	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1851558	1851558	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1851558G>A	uc003wpr.2	+	16	1940	c.1762G>A	c.(1762-1764)GAT>AAT	p.D588N	ARHGEF10_uc003wpq.1_Missense_Mutation_p.D612N|ARHGEF10_uc003wps.2_Missense_Mutation_p.D550N|ARHGEF10_uc003wpt.2_Missense_Mutation_p.D464N|ARHGEF10_uc003wpv.2_Missense_Mutation_p.D321N|ARHGEF10_uc010lre.2_Missense_Mutation_p.D268N	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	613					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
ARHGEF10	9639	broad.mit.edu	37	8	1853833	1853833	+	Nonsense_Mutation	SNP	C	T	T	rs138007359		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1853833C>T	uc003wpr.2	+	17	2096	c.1918C>T	c.(1918-1920)CGA>TGA	p.R640*	ARHGEF10_uc003wpq.1_Nonsense_Mutation_p.R664*|ARHGEF10_uc003wps.2_Nonsense_Mutation_p.R602*|ARHGEF10_uc003wpv.2_Nonsense_Mutation_p.R373*|ARHGEF10_uc010lre.2_Nonsense_Mutation_p.R320*	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor 10	665					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)														---	---	---	---
KBTBD11	9920	broad.mit.edu	37	8	1950764	1950764	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:1950764G>A	uc003wpw.3	+	2	2372	c.1406G>A	c.(1405-1407)CGC>CAC	p.R469H		NM_014867	NP_055682	O94819	KBTBB_HUMAN	kelch repeat and BTB (POZ) domain containing 11	469	Kelch 4.									pancreas(1)	1		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.72e-05)|READ - Rectum adenocarcinoma(644;0.0929)|COAD - Colon adenocarcinoma(149;0.134)														---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2005590	2005590	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2005590G>A	uc003wpx.3	+	4	526	c.388G>A	c.(388-390)GCC>ACC	p.A130T	MYOM2_uc011kwi.1_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	myomesin 2	130					muscle contraction	myosin filament	structural constituent of muscle			ovary(4)|central_nervous_system(1)|skin(1)	6		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2813159	2813159	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2813159T>C	uc011kwk.1	-	64	10339	c.9949A>G	c.(9949-9951)ACA>GCA	p.T3317A	CSMD1_uc011kwj.1_Missense_Mutation_p.T2646A|CSMD1_uc010lrg.2_Missense_Mutation_p.T1208A	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3317	Sushi 28.|Extracellular (Potential).					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)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2820881	2820881	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:2820881C>G	uc011kwk.1	-	60	9710	c.9320G>C	c.(9319-9321)GGA>GCA	p.G3107A	CSMD1_uc011kwj.1_Missense_Mutation_p.G2436A|CSMD1_uc010lrg.2_Missense_Mutation_p.G998A	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	3107	Sushi 25.|Extracellular (Potential).					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)														---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3009015	3009015	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:3009015T>G	uc011kwk.1	-	40	6328	c.5938A>C	c.(5938-5940)AGC>CGC	p.S1980R	CSMD1_uc011kwj.1_Missense_Mutation_p.S1372R|CSMD1_uc003wqe.2_Missense_Mutation_p.S1136R|CSMD1_uc010lrg.2_Missense_Mutation_p.S48R	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1 precursor	1980	Extracellular (Potential).|CUB 12.					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)														---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6357451	6357451	+	Splice_Site	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:6357451G>A	uc003wqi.2	+	12	2282	c.2214_splice	c.e12+1	p.P738_splice	ANGPT2_uc003wqj.3_3'UTR|ANGPT2_uc003wqk.3_3'UTR|ANGPT2_uc010lri.2_3'UTR	NM_024596	NP_078872			microcephalin							microtubule organizing center				central_nervous_system(1)|skin(1)	2		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)														---	---	---	---
CLDN23	137075	broad.mit.edu	37	8	8560618	8560618	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:8560618G>A	uc003wsi.2	+	1	953	c.710G>A	c.(709-711)CGC>CAC	p.R237H		NM_194284	NP_919260	Q96B33	CLD23_HUMAN	claudin 23	237	Cytoplasmic (Potential).				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity				0		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)														---	---	---	---
SOX7	83595	broad.mit.edu	37	8	10583396	10583396	+	Missense_Mutation	SNP	C	T	T	rs150061334		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10583396C>T	uc003wtf.2	-	2	1098	c.1019G>A	c.(1018-1020)GGC>GAC	p.G340D	SOX7_uc011kwz.1_Missense_Mutation_p.G392D	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	SRY-box 7	340	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)	1				COAD - Colon adenocarcinoma(149;0.0732)														---	---	---	---
BLK	640	broad.mit.edu	37	8	11400821	11400821	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11400821G>A	uc003wty.2	+	2	669	c.88G>A	c.(88-90)GCC>ACC	p.A30T	BLK_uc003wtz.2_Intron	NM_001715	NP_001706	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	30					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			large_intestine(1)|stomach(1)|ovary(1)	3			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)														---	---	---	---
DLC1	10395	broad.mit.edu	37	8	13356670	13356670	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:13356670T>G	uc003wwm.2	-	2	1355	c.911A>C	c.(910-912)AAC>ACC	p.N304T	DLC1_uc003wwn.2_Missense_Mutation_p.N304T|DLC1_uc011kxy.1_Missense_Mutation_p.N304T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	304					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7																		---	---	---	---
TUSC3	7991	broad.mit.edu	37	8	15519671	15519671	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:15519671G>A	uc003wwt.2	+	5	784	c.574G>A	c.(574-576)GTT>ATT	p.V192I	TUSC3_uc003wwr.2_Missense_Mutation_p.V192I|TUSC3_uc003wws.2_Missense_Mutation_p.V192I|TUSC3_uc003wwu.2_Missense_Mutation_p.V192I|TUSC3_uc003wwv.2_Missense_Mutation_p.V192I|TUSC3_uc003www.2_Missense_Mutation_p.V192I|TUSC3_uc003wwx.2_RNA|TUSC3_uc003wwy.2_Missense_Mutation_p.V192I	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3 isoform a	192					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				ovary(2)|central_nervous_system(1)	3				Colorectal(111;0.113)														---	---	---	---
NAT2	10	broad.mit.edu	37	8	18258091	18258091	+	Missense_Mutation	SNP	C	T	T	rs79050330	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:18258091C>T	uc003wyw.1	+	2	685	c.578C>T	c.(577-579)ACG>ATG	p.T193M		NM_000015	NP_000006	P11245	ARY2_HUMAN	N-acetyltransferase 2	193			T -> M.		xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			ovary(1)|skin(1)	2				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)										Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of				---	---	---	---
PSD3	23362	broad.mit.edu	37	8	18393319	18393319	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:18393319C>T	uc003wza.2	-	16	3181	c.3078G>A	c.(3076-3078)AAG>AAA	p.K1026K	PSD3_uc003wyx.3_Silent_p.K355K|PSD3_uc003wyy.2_Silent_p.K492K|PSD3_uc003wyz.2_Silent_p.K327K	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	1027					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)														---	---	---	---
CSGALNACT1	55790	broad.mit.edu	37	8	19362790	19362790	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:19362790A>C	uc011kyn.1	-	4	1620	c.556T>G	c.(556-558)TCA>GCA	p.S186A	CSGALNACT1_uc011kyo.1_Missense_Mutation_p.S186A|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.S185A|CSGALNACT1_uc003wzh.2_RNA	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate	186	Lumenal (Potential).				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			central_nervous_system(2)|ovary(1)	3				Colorectal(111;0.182)														---	---	---	---
LZTS1	11178	broad.mit.edu	37	8	20110932	20110932	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:20110932C>T	uc003wzr.2	-	2	621	c.510G>A	c.(508-510)GCG>GCA	p.A170A	LZTS1_uc010ltg.1_Silent_p.A170A	NM_021020	NP_066300	Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	170					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)														---	---	---	---
GFRA2	2675	broad.mit.edu	37	8	21608314	21608314	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21608314G>A	uc003wzu.1	-	4	1255	c.580C>T	c.(580-582)CGC>TGC	p.R194C	GFRA2_uc003wzv.1_Missense_Mutation_p.R89C|GFRA2_uc003wzw.1_Missense_Mutation_p.R61C|DOK2_uc003wzx.1_Intron	NM_001495	NP_001486	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2 isoform a	194						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity				0				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)														---	---	---	---
HR	55806	broad.mit.edu	37	8	21973889	21973889	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21973889T>G	uc003xas.2	-	18	4096	c.3431A>C	c.(3430-3432)GAG>GCG	p.E1144A	HR_uc003xat.2_Missense_Mutation_p.E1089A	NM_005144	NP_005135	O43593	HAIR_HUMAN	hairless protein isoform a	1144	JmjC.						DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)														---	---	---	---
LOXL2	4017	broad.mit.edu	37	8	23198655	23198655	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23198655C>T	uc003xdh.1	-	4	932	c.593G>A	c.(592-594)CGC>CAC	p.R198H	uc003xdj.2_RNA|uc003xdi.2_RNA	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2 precursor	198	SRCR 2.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|ovary(1)	3		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)														---	---	---	---
ENTPD4	9583	broad.mit.edu	37	8	23290530	23290530	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23290530C>T	uc003xdl.2	-	13	1924	c.1760G>A	c.(1759-1761)CGC>CAC	p.R587H	ENTPD4_uc011kzu.1_Intron|ENTPD4_uc003xdm.2_Missense_Mutation_p.R579H	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	587	Cytoplasmic (Potential).				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			ovary(1)|kidney(1)	2		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)														---	---	---	---
ADAMDEC1	27299	broad.mit.edu	37	8	24256906	24256906	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:24256906C>T	uc003xdz.2	+	10	1150	c.930C>T	c.(928-930)AGC>AGT	p.S310S	ADAMDEC1_uc010lub.2_Silent_p.S231S|ADAMDEC1_uc011lab.1_Silent_p.S231S	NM_014479	NP_055294	O15204	ADEC1_HUMAN	ADAM-like, decysin 1 isoform 1	310	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			skin(2)	2		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)														---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25181376	25181376	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25181376C>T	uc003xeg.2	+	17	1765	c.1628C>T	c.(1627-1629)TCG>TTG	p.S543L	DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.S257L|DOCK5_uc003xei.2_Missense_Mutation_p.S113L|DOCK5_uc003xej.2_5'Flank	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	543	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)														---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25257520	25257520	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:25257520G>A	uc003xeg.2	+						PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_Intron	NM_024940	NP_079216			dedicator of cytokinesis 5							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(3)	3		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)														---	---	---	---
ADRA1A	148	broad.mit.edu	37	8	26627853	26627853	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26627853C>T	uc003xfh.1	-	2	1650	c.1214G>A	c.(1213-1215)CGT>CAT	p.R405H	ADRA1A_uc003xfc.1_Missense_Mutation_p.R405H|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.R405H|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.R405H	NM_000680	NP_000671	P35348	ADA1A_HUMAN	alpha-1A-adrenergic receptor isoform 1	405	Cytoplasmic (By similarity).				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|ovary(1)|lung(1)|skin(1)	5		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)													---	---	---	---
STMN4	81551	broad.mit.edu	37	8	27098744	27098744	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27098744C>T	uc003xfk.2	-	4	259	c.145G>A	c.(145-147)GAC>AAC	p.D49N	STMN4_uc003xfj.2_Missense_Mutation_p.D76N|STMN4_uc011lai.1_Missense_Mutation_p.D76N|STMN4_uc011laj.1_Missense_Mutation_p.D40N|STMN4_uc011lak.1_Missense_Mutation_p.D76N|STMN4_uc010luo.2_Missense_Mutation_p.D49N			Q9H169	STMN4_HUMAN	RecName: Full=Stathmin-4; AltName: Full=Stathmin-like protein B3;          Short=RB3;	49					intracellular signal transduction					large_intestine(1)|pancreas(1)	2		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)														---	---	---	---
EXTL3	2137	broad.mit.edu	37	8	28575713	28575713	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28575713G>A	uc003xgz.1	+	3	2730	c.2137G>A	c.(2137-2139)GTT>ATT	p.V713I		NM_001440	NP_001431	O43909	EXTL3_HUMAN	exostoses-like 3	713	Lumenal (Potential).					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			skin(2)	2		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)														---	---	---	---
LEPROTL1	23484	broad.mit.edu	37	8	29963354	29963354	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:29963354C>T	uc003xhw.3	+	4	479	c.372C>T	c.(370-372)GAC>GAT	p.D124D	LEPROTL1_uc003xhx.2_Intron	NM_015344	NP_056159	O95214	LERL1_HUMAN	leptin receptor overlapping transcript-like 1	124						integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)														---	---	---	---
TEX15	56154	broad.mit.edu	37	8	30701385	30701385	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:30701385G>A	uc003xil.2	-	1	5149	c.5149C>T	c.(5149-5151)CGA>TGA	p.R1717*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	testis expressed 15	1717										ovary(3)|upper_aerodigestive_tract(2)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)														---	---	---	---
RNF122	79845	broad.mit.edu	37	8	33406951	33406951	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:33406951C>T	uc003xjo.1	-	5	732	c.330G>A	c.(328-330)CCG>CCA	p.P110P		NM_024787	NP_079063	Q9H9V4	RN122_HUMAN	ring finger protein 122	110	RING-type; atypical.					endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding				0				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)														---	---	---	---
GPR124	25960	broad.mit.edu	37	8	37688966	37688966	+	Missense_Mutation	SNP	G	A	A	rs111714720	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:37688966G>A	uc003xkj.2	+	8	1321	c.958G>A	c.(958-960)GTG>ATG	p.V320M	GPR124_uc010lvy.2_Missense_Mutation_p.V320M	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124 precursor	320	Extracellular (Potential).|Ig-like.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|ovary(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)															---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38156990	38156990	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38156990C>T	uc003xli.2	-	15	3248	c.2730G>A	c.(2728-2730)TCG>TCA	p.S910S	WHSC1L1_uc011lbm.1_Silent_p.S910S|WHSC1L1_uc010lwe.2_Intron	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	WHSC1L1 protein isoform long	910	PHD-type 3.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)	1	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)					T	NUP98	AML								---	---	---	---
FGFR1	2260	broad.mit.edu	37	8	38272143	38272143	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:38272143C>T	uc003xlp.2	-	16	2924	c.1982G>A	c.(1981-1983)CGA>CAA	p.R661Q	FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Missense_Mutation_p.R659Q|FGFR1_uc011lbp.1_Missense_Mutation_p.R572Q|FGFR1_uc011lbq.1_Missense_Mutation_p.R570Q|FGFR1_uc010lwk.2_Missense_Mutation_p.R651Q	NM_023110	NP_075598	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1 isoform 1	661	Cytoplasmic (Potential).|Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity			lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1)	15	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)		1	T	BCR|FOP|ZNF198|CEP1	MPD|NHL		Pfeiffer syndrome|Kallman syndrome						---	---	---	---
ADAM32	203102	broad.mit.edu	37	8	39089551	39089551	+	Silent	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:39089551A>C	uc003xmt.3	+	15	1776	c.1531A>C	c.(1531-1533)AGA>CGA	p.R511R	ADAM32_uc011lch.1_Silent_p.R412R|ADAM32_uc003xmu.3_Silent_p.R405R|ADAM32_uc003xmv.2_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	a disintegrin and metalloprotease domain 32	511	Extracellular (Potential).				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)															---	---	---	---
SLC20A2	6575	broad.mit.edu	37	8	42294885	42294885	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42294885C>T	uc010lxl.2	-	8	1839	c.1145G>A	c.(1144-1146)CGA>CAA	p.R382Q	SLC20A2_uc010lxm.2_Missense_Mutation_p.R382Q|SLC20A2_uc003xpe.2_Missense_Mutation_p.R382Q|SLC20A2_uc011lcu.1_Missense_Mutation_p.R184Q	NM_006749	NP_006740	Q08357	S20A2_HUMAN	solute carrier family 20, member 2	382	Cytoplasmic (Potential).				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			ovary(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)															---	---	---	---
SGK196	84197	broad.mit.edu	37	8	42977375	42977375	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:42977375G>A	uc003xpw.2	+	5	667	c.408G>A	c.(406-408)ACG>ACA	p.T136T		NM_032237	NP_115613	Q9H5K3	SG196_HUMAN	protein kinase-like protein SgK196	136	Protein kinase.					integral to membrane	ATP binding|protein kinase activity				0																		---	---	---	---
KIAA0146	23514	broad.mit.edu	37	8	48352956	48352956	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48352956T>C	uc003xqd.2	+	8	958	c.949T>C	c.(949-951)TGT>CGT	p.C317R	KIAA0146_uc011lcz.1_RNA|KIAA0146_uc011lda.1_Missense_Mutation_p.C6R|KIAA0146_uc011ldb.1_Missense_Mutation_p.C317R|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Missense_Mutation_p.C247R|KIAA0146_uc011ldd.1_Missense_Mutation_p.C257R|KIAA0146_uc003xqe.2_5'UTR|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Missense_Mutation_p.C6R|KIAA0146_uc010lxt.2_Missense_Mutation_p.C6R	NM_001080394	NP_001073863	Q14159	K0146_HUMAN	hypothetical protein LOC23514	317											0		Lung NSC(58;0.175)																---	---	---	---
PRKDC	5591	broad.mit.edu	37	8	48696325	48696325	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48696325C>T	uc003xqi.2	-	79	11210	c.11153G>A	c.(11152-11154)CGA>CAA	p.R3718Q	PRKDC_uc003xqj.2_Missense_Mutation_p.R3718Q|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	3718					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)											NHEJ					---	---	---	---
MCM4	4173	broad.mit.edu	37	8	48878898	48878898	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48878898C>T	uc003xqk.1	+	9	1079	c.984C>T	c.(982-984)TGC>TGT	p.C328C	MCM4_uc003xql.1_Silent_p.C328C|MCM4_uc011ldi.1_Silent_p.C315C	NM_182746	NP_877423	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	328					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	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			ovary(2)|skin(2)	4		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)																---	---	---	---
SNAI2	6591	broad.mit.edu	37	8	49832962	49832962	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:49832962G>A	uc003xqp.2	-	2	282	c.118C>T	c.(118-120)CCT>TCT	p.P40S		NM_003068	NP_003059	O43623	SNAI2_HUMAN	snail 2	40					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)																---	---	---	---
ATP6V1H	51606	broad.mit.edu	37	8	54656163	54656163	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:54656163G>A	uc003xrl.2	-	13	1517	c.1365C>T	c.(1363-1365)GCC>GCT	p.A455A	ATP6V1H_uc003xrk.2_Silent_p.A415A|ATP6V1H_uc003xrm.2_Silent_p.A455A|ATP6V1H_uc003xrn.2_Silent_p.A437A|ATP6V1H_uc011ldv.1_Silent_p.A375A|ATP6V1H_uc010lyd.2_Silent_p.A391A	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1	455					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism				0		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)															---	---	---	---
SOX17	64321	broad.mit.edu	37	8	55370926	55370926	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55370926G>A	uc003xsb.3	+	1	432	c.228G>A	c.(226-228)ATG>ATA	p.M76I		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	SRY-box 17	76	HMG box.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			lung(1)	1		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)															---	---	---	---
SDR16C5	195814	broad.mit.edu	37	8	57228626	57228626	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57228626G>T	uc003xsy.1	-	2	919	c.281C>A	c.(280-282)GCC>GAC	p.A94D	SDR16C5_uc010lyk.1_Missense_Mutation_p.A94D|SDR16C5_uc010lyl.1_Missense_Mutation_p.A94D	NM_138969	NP_620419	Q8N3Y7	RDHE2_HUMAN	epidermal retinal dehydrogenase 2	94					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
IMPAD1	54928	broad.mit.edu	37	8	57878873	57878873	+	Missense_Mutation	SNP	G	A	A	rs1046663		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:57878873G>A	uc003xte.3	-	4	968	c.685C>T	c.(685-687)CGC>TGC	p.R229C		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	229						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			ovary(1)	1		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)																---	---	---	---
CYP7A1	1581	broad.mit.edu	37	8	59409213	59409213	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:59409213C>T	uc003xtm.3	-	3	921	c.858G>A	c.(856-858)TCG>TCA	p.S286S		NM_000780	NP_000771	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A,	286					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			ovary(1)	1		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)												Neonatal_Giant_Cell_Hepatitis				---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61757467	61757467	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61757467G>A	uc003xue.2	+	22	5372	c.4895G>A	c.(4894-4896)CGC>CAC	p.R1632H		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1632					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---
ARMC1	55156	broad.mit.edu	37	8	66516786	66516786	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:66516786A>G	uc003xvl.2	-	7	927	c.692T>C	c.(691-693)GTT>GCT	p.V231A	ARMC1_uc011leo.1_Missense_Mutation_p.V129A	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	armadillo repeat-containing protein	231					metal ion transport		metal ion binding			skin(1)	1			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)															---	---	---	---
SGK3	23678	broad.mit.edu	37	8	67753312	67753312	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67753312T>C	uc003xwr.2	+	13	1244	c.945T>C	c.(943-945)TCT>TCC	p.S315S	SGK3_uc003xwp.2_Silent_p.S309S|SGK3_uc003xwt.2_Silent_p.S315S|SGK3_uc003xwu.2_Silent_p.S315S	NM_001033578	NP_001028750	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase 3 isoform	315	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			ovary(1)|large_intestine(1)|lung(1)|breast(1)	4	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
COPS5	10987	broad.mit.edu	37	8	67969636	67969636	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:67969636G>A	uc003xxe.2	-	4	883	c.552C>T	c.(550-552)GGC>GGT	p.G184G	COPS5_uc003xxd.2_Silent_p.G120G|COPS5_uc003xxf.2_Silent_p.G229G|COPS5_uc010lyu.1_RNA|COPS5_uc010lyv.1_Silent_p.G184G	NM_006837	NP_006828	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	184					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			ovary(1)|skin(1)	2	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)															---	---	---	---
ARFGEF1	10565	broad.mit.edu	37	8	68152512	68152512	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:68152512G>T	uc003xxo.1	-	20	3254	c.2864C>A	c.(2863-2865)CCT>CAT	p.P955H	ARFGEF1_uc003xxl.1_Missense_Mutation_p.P409H|ARFGEF1_uc003xxn.1_5'UTR	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	brefeldin A-inhibited guanine	955					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1)	8	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)															---	---	---	---
C8orf34	116328	broad.mit.edu	37	8	69351764	69351764	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:69351764C>T	uc010lyz.2	+	2	149	c.100C>T	c.(100-102)CCT>TCT	p.P34S	C8orf34_uc010lyx.1_Missense_Mutation_p.P34S|C8orf34_uc010lyy.1_Missense_Mutation_p.P34S|C8orf34_uc003xyb.2_Missense_Mutation_p.P9S	NM_052958	NP_443190	Q49A92	CH034_HUMAN	hypothetical protein LOC116328	34					signal transduction		cAMP-dependent protein kinase regulator activity			large_intestine(1)	1			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)															---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70744209	70744209	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:70744209C>T	uc003xyl.2	-	2	1407	c.700G>A	c.(700-702)GAC>AAC	p.D234N	SLCO5A1_uc010lzb.2_Missense_Mutation_p.D234N|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.D234N|SLCO5A1_uc010lzc.2_Missense_Mutation_p.D234N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family,	234	Extracellular (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)															---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71037039	71037039	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71037039C>T	uc003xyn.1	-	20	4140	c.3978G>A	c.(3976-3978)ATG>ATA	p.M1326I	NCOA2_uc011lfb.1_Missense_Mutation_p.M414I	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1326					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)					T	RUNXBP2	AML								---	---	---	---
NCOA2	10499	broad.mit.edu	37	8	71068415	71068415	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:71068415T>C	uc003xyn.1	-	11	2347	c.2185A>G	c.(2185-2187)ACT>GCT	p.T729A		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	729	CASP8AP2-binding (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)	lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1)	16	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)					T	RUNXBP2	AML								---	---	---	---
Unknown	0	broad.mit.edu	37	8	81471656	81471656	+	IGR	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:81471656C>T								ZBTB10 (37048 upstream) : ZNF704 (79113 downstream)																																			---	---	---	---
PAG1	55824	broad.mit.edu	37	8	81897572	81897572	+	Silent	SNP	G	A	A	rs113484085		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:81897572G>A	uc003ybz.2	-	7	1026	c.315C>T	c.(313-315)TAC>TAT	p.Y105Y		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid	105	Cytoplasmic (Potential).			Y->F: No effect on interaction with FYN or CSK.	epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity				0	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)															---	---	---	---
LRRCC1	85444	broad.mit.edu	37	8	86044119	86044119	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:86044119G>A	uc003ycw.2	+	12	2045	c.1891G>A	c.(1891-1893)GTG>ATG	p.V631M	LRRCC1_uc010lzz.1_RNA|LRRCC1_uc010maa.1_Missense_Mutation_p.V332M|LRRCC1_uc003ycx.2_Missense_Mutation_p.V538M|LRRCC1_uc003ycy.2_Missense_Mutation_p.V611M	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	sodium channel associated protein 2 isoform a	631	Potential.				cell division|mitosis	centriole|nucleus					0																		---	---	---	---
OSGIN2	734	broad.mit.edu	37	8	90937477	90937477	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:90937477T>C	uc003yeg.2	+	6	1581	c.1235T>C	c.(1234-1236)TTG>TCG	p.L412S	OSGIN2_uc003yeh.2_Missense_Mutation_p.L456S	NM_004337	NP_004328	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family	412					germ cell development|meiosis						0			BRCA - Breast invasive adenocarcinoma(11;0.0344)															---	---	---	---
CALB1	793	broad.mit.edu	37	8	91072926	91072926	+	Silent	SNP	G	A	A	rs144972242	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:91072926G>A	uc003yel.1	-	10	785	c.603C>T	c.(601-603)GAC>GAT	p.D201D	CALB1_uc011lge.1_Silent_p.D144D	NM_004929	NP_004920	P05937	CALB1_HUMAN	calbindin 1	201	4.|EF-hand 5.					nucleus	calcium ion binding|vitamin D binding			pancreas(1)	1			BRCA - Breast invasive adenocarcinoma(11;0.00953)															---	---	---	---
RUNX1T1	862	broad.mit.edu	37	8	92998374	92998374	+	Silent	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:92998374G>C	uc003yfd.2	-	8	1341	c.1257C>G	c.(1255-1257)GTC>GTG	p.V419V	RUNX1T1_uc003yfc.1_Silent_p.V392V|RUNX1T1_uc003yfe.1_Silent_p.V382V|RUNX1T1_uc010mao.2_Silent_p.V392V|RUNX1T1_uc011lgi.1_Silent_p.V430V|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Silent_p.V382V	NM_175634	NP_783552	Q06455	MTG8_HUMAN	acute myelogenous leukemia 1 translocation 1	419					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16			BRCA - Breast invasive adenocarcinoma(11;0.0141)															---	---	---	---
RBM12B	389677	broad.mit.edu	37	8	94746632	94746632	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:94746632C>T	uc003yfz.2	-	3	2200	c.2007G>A	c.(2005-2007)CGG>CGA	p.R669R		NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	669							nucleotide binding|RNA binding				0	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)															---	---	---	---
TMEM67	91147	broad.mit.edu	37	8	94798500	94798500	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:94798500T>G	uc011lgk.1	+	13	1409	c.1338T>G	c.(1336-1338)GAT>GAG	p.D446E	TMEM67_uc010mat.1_Missense_Mutation_p.D361E|TMEM67_uc010maw.2_Missense_Mutation_p.D152E|TMEM67_uc003yga.3_Missense_Mutation_p.D365E	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	meckelin isoform 1	446					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			ovary(2)	2	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)															---	---	---	---
TP53INP1	94241	broad.mit.edu	37	8	95952411	95952411	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95952411T>C	uc003yhg.2	-	3	534	c.150A>G	c.(148-150)GAA>GAG	p.E50E	C8orf38_uc003yhe.1_Intron|C8orf38_uc003yhf.2_Intron|TP53INP1_uc003yhh.2_Silent_p.E50E	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptosis	PML body					0	Breast(36;8.75e-07)																	---	---	---	---
POP1	10940	broad.mit.edu	37	8	99168279	99168279	+	Missense_Mutation	SNP	C	T	T	rs142902409		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99168279C>T	uc003yij.3	+	15	2159	c.2059C>T	c.(2059-2061)CGC>TGC	p.R687C	POP1_uc011lgv.1_Missense_Mutation_p.R687C|POP1_uc003yik.2_Missense_Mutation_p.R687C	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	687					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			ovary(1)|breast(1)	2	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)															---	---	---	---
STK3	6788	broad.mit.edu	37	8	99735147	99735147	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99735147C>T	uc003yip.2	-						STK3_uc003yio.2_Intron|STK3_uc010mbm.1_Intron	NM_006281	NP_006272			serine/threonine kinase 3						apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			lung(3)|ovary(1)	4	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)														---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100790954	100790954	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:100790954C>T	uc003yiv.2	+	42	7660	c.7549C>T	c.(7549-7551)CCA>TCA	p.P2517S	VPS13B_uc003yiw.2_Missense_Mutation_p.P2492S	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13B isoform 5	2517					protein transport					ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)															---	---	---	---
SNX31	169166	broad.mit.edu	37	8	101601120	101601120	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:101601120G>A	uc003yjr.2	-	11	1217	c.1066C>T	c.(1066-1068)CAG>TAG	p.Q356*	SNX31_uc011lha.1_Nonsense_Mutation_p.Q151*|SNX31_uc011lhb.1_Nonsense_Mutation_p.Q257*	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	sorting nexin 31	356					cell communication|protein transport		phosphatidylinositol binding				0	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)															---	---	---	---
FZD6	8323	broad.mit.edu	37	8	104312357	104312357	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:104312357T>C	uc003ylh.2	+	2	306	c.22T>C	c.(22-24)TTG>CTG	p.L8L	FZD6_uc003yli.2_Silent_p.L8L|FZD6_uc003ylj.2_Silent_p.L8L|FZD6_uc011lhn.1_Intron|FZD6_uc011lho.1_5'UTR|FZD6_uc011lhp.1_5'UTR	NM_003506	NP_003497	O60353	FZD6_HUMAN	frizzled 6 isoform a precursor	8					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|skin(1)	2			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)															---	---	---	---
TRHR	7201	broad.mit.edu	37	8	110099797	110099797	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110099797T>C	uc003ymz.3	+	1	72	c.56T>C	c.(55-57)GTG>GCG	p.V19A		NM_003301	NP_003292	P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	19	Extracellular (Potential).					integral to plasma membrane	thyrotropin-releasing hormone receptor activity			skin(2)|lung(1)	3			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)															---	---	---	---
ENY2	56943	broad.mit.edu	37	8	110348379	110348379	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110348379C>T	uc003ynd.2	+	2	91	c.29C>T	c.(28-30)GCG>GTG	p.A10V	NUDCD1_uc003ynb.3_5'Flank|NUDCD1_uc010mcl.2_5'Flank|ENY2_uc003ync.2_Missense_Mutation_p.A5V	NM_020189	NP_064574	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog	10					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity				0	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)															---	---	---	---
TRPS1	7227	broad.mit.edu	37	8	116599649	116599649	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:116599649T>C	uc003ynz.2	-	4	2699	c.2240A>G	c.(2239-2241)TAC>TGC	p.Y747C	TRPS1_uc011lhy.1_Missense_Mutation_p.Y751C|TRPS1_uc003yny.2_Missense_Mutation_p.Y760C|TRPS1_uc010mcy.2_Missense_Mutation_p.Y747C	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	747	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)											Langer-Giedion_syndrome				---	---	---	---
SLC30A8	169026	broad.mit.edu	37	8	118170074	118170074	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:118170074C>T	uc003yoh.2	+	4	793	c.563C>T	c.(562-564)GCC>GTC	p.A188V	SLC30A8_uc010mcz.2_Missense_Mutation_p.A139V|SLC30A8_uc011lia.1_Missense_Mutation_p.A139V|SLC30A8_uc003yog.2_Missense_Mutation_p.A139V	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 member 8	188	Helical; (Potential).				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			ovary(2)|skin(2)	4	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)															---	---	---	---
DSCC1	79075	broad.mit.edu	37	8	120855846	120855846	+	Intron	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:120855846T>C	uc003yov.2	-							NM_024094	NP_076999			defective in sister chromatid cohesion 1						DNA replication|maintenance of mitotic sister chromatid cohesion|post-translational protein acetylation|regulation of DNA replication	chromatin|chromosome, centromeric region|nucleoplasm	DNA binding|protein binding			pancreas(1)	1	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)															---	---	---	---
COL14A1	7373	broad.mit.edu	37	8	121262895	121262895	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121262895T>C	uc003yox.2	+	22	2907	c.2642T>C	c.(2641-2643)ATT>ACT	p.I881T	COL14A1_uc003yoy.2_Missense_Mutation_p.I559T	NM_021110	NP_066933	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1 precursor	881	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
MTBP	27085	broad.mit.edu	37	8	121463542	121463542	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121463542G>A	uc003ypc.1	+	4	450	c.405G>A	c.(403-405)AGG>AGA	p.R135R	MTBP_uc003ypb.1_Silent_p.R135R|MTBP_uc011lie.1_RNA	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	135					cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
MTBP	27085	broad.mit.edu	37	8	121468864	121468864	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121468864A>G	uc003ypc.1	+	7	746	c.701A>G	c.(700-702)GAC>GGC	p.D234G	MTBP_uc011lie.1_RNA	NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	234					cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
MTBP	27085	broad.mit.edu	37	8	121514817	121514817	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:121514817G>A	uc003ypc.1	+	15	1740	c.1695G>A	c.(1693-1695)TTG>TTA	p.L565L		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53	565	Interaction with MDM2 (By similarity).				cell cycle arrest					skin(2)|ovary(1)	3	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)															---	---	---	---
FAM83A	84985	broad.mit.edu	37	8	124219463	124219463	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124219463G>A	uc003ypv.2	+	5	2854	c.840G>A	c.(838-840)GAG>GAA	p.E280E	FAM83A_uc003ypw.2_Silent_p.E280E|FAM83A_uc003ypy.2_Silent_p.E224E|FAM83A_uc003ypx.2_Silent_p.E280E|FAM83A_uc003ypz.2_Silent_p.E280E	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	hypothetical protein LOC84985 isoform a	280										ovary(3)|skin(1)	4	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)															---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124333419	124333419	+	Intron	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124333419G>T	uc003yqh.3	-						ATAD2_uc011lii.1_Intron|ATAD2_uc003yqi.3_Intron	NM_014109	NP_054828			ATPase family, AAA domain containing 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124346170	124346170	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124346170C>G	uc003yqh.3	-	24	3534	c.3426G>C	c.(3424-3426)GAG>GAC	p.E1142D	ATAD2_uc011lii.1_Missense_Mutation_p.E933D|ATAD2_uc003yqi.3_RNA	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			ovary(2)	2	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)															---	---	---	---
FER1L6	654463	broad.mit.edu	37	8	125110039	125110039	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:125110039G>A	uc003yqw.2	+	37	5004	c.4798G>A	c.(4798-4800)GTG>ATG	p.V1600M	uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6	1600	C2 6.|Cytoplasmic (Potential).					integral to membrane				ovary(5)|skin(5)|central_nervous_system(1)	11	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)															---	---	---	---
ADCY8	114	broad.mit.edu	37	8	132051764	132051764	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:132051764G>A	uc003ytd.3	-	1	1072	c.816C>T	c.(814-816)GGC>GGT	p.G272G	ADCY8_uc010mds.2_Silent_p.G272G	NM_001115	NP_001106	P40145	ADCY8_HUMAN	adenylate cyclase 8	272					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|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			skin(4)|large_intestine(1)|central_nervous_system(1)	6	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)												HNSCC(32;0.087)			---	---	---	---
OC90	729330	broad.mit.edu	37	8	133041402	133041402	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133041402G>A	uc003ytg.2	-	12	1056	c.1056C>T	c.(1054-1056)TGC>TGT	p.C352C	OC90_uc011lix.1_Silent_p.C352C	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	otoconin 90	368	Phospholipase A2-like 2.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			ovary(2)|skin(1)	3	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)															---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133153429	133153429	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133153429C>T	uc003ytj.2	-	10	1637	c.1412G>A	c.(1411-1413)CGT>CAT	p.R471H	KCNQ3_uc010mdt.2_Missense_Mutation_p.R471H	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	471					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)															---	---	---	---
EIF2C2	27161	broad.mit.edu	37	8	141551427	141551427	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:141551427G>A	uc003yvn.2	-	15	1910	c.1870C>T	c.(1870-1872)CGC>TGC	p.R624C	EIF2C2_uc010men.2_Missense_Mutation_p.R547C|EIF2C2_uc010meo.2_Missense_Mutation_p.R624C	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	argonaute 2 isoform 1	624	Piwi.				mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity				0	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)															---	---	---	---
DENND3	22898	broad.mit.edu	37	8	142178431	142178431	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142178431G>A	uc003yvy.2	+	13	2120	c.1842G>A	c.(1840-1842)GCG>GCA	p.A614A	DENND3_uc010mep.2_Silent_p.A575A|DENND3_uc003yvz.1_Silent_p.A298A	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	614										ovary(1)	1	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
PTP4A3	11156	broad.mit.edu	37	8	142432427	142432427	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:142432427G>A	uc003ywg.1	+	1	421	c.87G>A	c.(85-87)ACG>ACA	p.T29T	PTP4A3_uc003ywh.1_Silent_p.T29T|PTP4A3_uc010met.1_Silent_p.T29T	NM_032611	NP_116000	O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	29						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity				0	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)															---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143956469	143956469	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143956469G>A	uc003yxi.2	-	8	1309	c.1302C>T	c.(1300-1302)TCC>TCT	p.S434S	CYP11B1_uc010mex.2_Silent_p.S133S|CYP11B1_uc003yxh.2_Intron|CYP11B1_uc003yxj.2_Intron|CYP11B1_uc010mey.2_Silent_p.S505S	NM_000497	NP_000488	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B,	434					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			ovary(3)	3	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)									Familial_Hyperaldosteronism_type_I				---	---	---	---
EEF1D	1936	broad.mit.edu	37	8	144668426	144668426	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144668426G>A	uc011lki.1	-	3	421	c.152C>T	c.(151-153)GCG>GTG	p.A51V	EEF1D_uc003yyp.1_Intron|EEF1D_uc003yyq.1_Missense_Mutation_p.A467V|EEF1D_uc011lkj.1_Missense_Mutation_p.A416V|EEF1D_uc003yyr.2_Missense_Mutation_p.A417V|EEF1D_uc003yyt.2_Missense_Mutation_p.A417V|EEF1D_uc011lkk.1_Missense_Mutation_p.A51V|EEF1D_uc003yys.2_Missense_Mutation_p.A51V|EEF1D_uc003yyv.2_Intron|EEF1D_uc003yyu.2_Missense_Mutation_p.A51V|EEF1D_uc011lkl.1_Missense_Mutation_p.A51V	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta	51					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			ovary(1)|kidney(1)|skin(1)	3	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)															---	---	---	---
EPPK1	83481	broad.mit.edu	37	8	144945811	144945811	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144945811G>A	uc003zaa.1	-	1	1624	c.1611C>T	c.(1609-1611)TCC>TCT	p.S537S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	epiplakin 1	537						cytoplasm|cytoskeleton	protein binding|structural molecule activity			pancreas(1)|skin(1)	2	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144994535	144994535	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144994535C>T	uc003zaf.1	-	32	10035	c.9865G>A	c.(9865-9867)GTG>ATG	p.V3289M	PLEC_uc003zab.1_Missense_Mutation_p.V3152M|PLEC_uc003zac.1_Missense_Mutation_p.V3156M|PLEC_uc003zad.2_Missense_Mutation_p.V3152M|PLEC_uc003zae.1_Missense_Mutation_p.V3120M|PLEC_uc003zag.1_Missense_Mutation_p.V3130M|PLEC_uc003zah.2_Missense_Mutation_p.V3138M|PLEC_uc003zaj.2_Missense_Mutation_p.V3179M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	3289	Globular 2.|Plectin 10.				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																		---	---	---	---
PLEC	5339	broad.mit.edu	37	8	145007371	145007371	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145007371T>C	uc003zaf.1	-	13	1993	c.1823A>G	c.(1822-1824)TAC>TGC	p.Y608C	PLEC_uc003zab.1_Missense_Mutation_p.Y471C|PLEC_uc003zac.1_Missense_Mutation_p.Y475C|PLEC_uc003zad.2_Missense_Mutation_p.Y471C|PLEC_uc003zae.1_Missense_Mutation_p.Y439C|PLEC_uc003zag.1_Missense_Mutation_p.Y449C|PLEC_uc003zah.2_Missense_Mutation_p.Y457C|PLEC_uc003zaj.2_Missense_Mutation_p.Y498C	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	608	Globular 1.				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																		---	---	---	---
PARP10	84875	broad.mit.edu	37	8	145059213	145059213	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145059213A>G	uc003zal.3	-	5	1065	c.957T>C	c.(955-957)ATT>ATC	p.I319I	PARP10_uc003zak.3_Silent_p.I25I|PARP10_uc011lku.1_Silent_p.I331I|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.I319I|PARP10_uc010mfn.1_Silent_p.I234I|PARP10_uc010mfo.1_3'UTR	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	319						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
C8orf30A	51236	broad.mit.edu	37	8	145193655	145193655	+	Silent	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145193655T>A	uc010mfs.2	+	3	799	c.732T>A	c.(730-732)ATT>ATA	p.I244I	C8orf30A_uc003zbf.2_5'UTR	NM_016458	NP_057542	Q9BTY7	F203A_HUMAN	brain protein 16	244							binding				0	all_cancers(97;3.36e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.8e-41)|Epithelial(56;3.84e-40)|all cancers(56;2.3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---
HEATR7A	727957	broad.mit.edu	37	8	145267944	145267944	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145267944C>T	uc003zbk.3	+						HEATR7A_uc003zbh.3_Nonsense_Mutation_p.R397*|HEATR7A_uc003zbi.3_Nonsense_Mutation_p.R397*|HEATR7A_uc011lla.1_Intron|HEATR7A_uc010mft.2_Intron	NM_032450	NP_115826			HEAT repeat containing 7A isoform 1								binding				0																		---	---	---	---
HSF1	3297	broad.mit.edu	37	8	145535772	145535772	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145535772C>T	uc003zbt.3	+	9	1154	c.984C>T	c.(982-984)ACC>ACT	p.T328T	HSF1_uc003zbu.3_RNA	NM_005526	NP_005517	Q00613	HSF1_HUMAN	heat shock transcription factor 1	328						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)															---	---	---	---
GPT	2875	broad.mit.edu	37	8	145730625	145730625	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145730625G>A	uc011lli.1	+						GPT_uc011llj.1_Intron|GPT_uc003zdh.3_Intron	NM_005309	NP_005300			glutamic pyruvate transaminase						gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			ovary(1)|central_nervous_system(1)	2	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)													---	---	---	---
RECQL4	9401	broad.mit.edu	37	8	145737619	145737619	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145737619C>A	uc003zdj.2	-	19	3176	c.3144G>T	c.(3142-3144)AAG>AAT	p.K1048N		NM_004260	NP_004251	O94761	RECQ4_HUMAN	RecQ protein-like 4	1048					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|lung(1)|skin(1)	4	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)					N|F|S			osteosarcoma|skin basal and sqamous cell		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome				---	---	---	---
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:164038C>G	uc003zga.3	-	5	537	c.431_splice	c.e5-1	p.G144_splice	CBWD1_uc010mgs.2_Splice_Site|CBWD1_uc003zgb.3_Splice_Site_p.G108_splice|CBWD1_uc003zgc.3_Splice_Site_p.G144_splice|CBWD1_uc011llr.1_Splice_Site_p.G108_splice	NM_018491	NP_060961			COBW domain containing 1 isoform 1								ATP binding|protein binding			ovary(1)	1	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	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)														---	---	---	---
KCNV2	169522	broad.mit.edu	37	9	2718724	2718724	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:2718724C>T	uc003zho.1	+	1	1199	c.985C>T	c.(985-987)CGC>TGC	p.R329C		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	329	Cytoplasmic (Potential).					voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(50;0.0257)														---	---	---	---
RFX3	5991	broad.mit.edu	37	9	3257078	3257078	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:3257078A>G	uc003zhr.2	-	15	2039	c.1727T>C	c.(1726-1728)GTG>GCG	p.V576A	RFX3_uc010mhd.2_Missense_Mutation_p.V576A|RFX3_uc003zhs.1_Missense_Mutation_p.V576A	NM_134428	NP_602304	P48380	RFX3_HUMAN	regulatory factor X3 isoform b	576					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)														---	---	---	---
CDC37L1	55664	broad.mit.edu	37	9	4701852	4701852	+	Intron	SNP	T	G	G	rs71497545		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:4701852T>G	uc003zio.2	+							NM_017913	NP_060383			cell division cycle 37 homolog (S.							cytoplasm					0	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)														---	---	---	---
CDC37L1	55664	broad.mit.edu	37	9	4701853	4701853	+	Intron	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:4701853G>T	uc003zio.2	+							NM_017913	NP_060383			cell division cycle 37 homolog (S.							cytoplasm					0	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)														---	---	---	---
UHRF2	115426	broad.mit.edu	37	9	6506085	6506085	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:6506085G>A	uc003zjy.2	+	16	2655	c.2315G>A	c.(2314-2316)CGG>CAG	p.R772Q	UHRF2_uc003zjz.2_RNA|UHRF2_uc003zkb.2_RNA	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains	772	RING-type.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|ovary(1)	3		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)														---	---	---	---
CER1	9350	broad.mit.edu	37	9	14720258	14720258	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:14720258C>T	uc003zlj.2	-	2	679	c.634G>A	c.(634-636)GCC>ACC	p.A212T		NM_005454	NP_005445	O95813	CER1_HUMAN	cerberus 1 precursor	212	CTCK.				BMP signaling pathway	extracellular space	cytokine activity				0				GBM - Glioblastoma multiforme(50;3.16e-06)														---	---	---	---
DENND4C	55667	broad.mit.edu	37	9	19305410	19305410	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19305410G>A	uc003znq.2	+	6	697	c.664G>A	c.(664-666)GCA>ACA	p.A222T	DENND4C_uc011lnc.1_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	222	DENN.					integral to membrane				ovary(1)|skin(1)	2																		---	---	---	---
DDX58	23586	broad.mit.edu	37	9	32485255	32485255	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32485255C>T	uc003zra.2	-	10	1556	c.1398G>A	c.(1396-1398)CGG>CGA	p.R466R	DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Silent_p.R421R|DDX58_uc011lnr.1_Silent_p.R263R|DDX58_uc010mji.2_Silent_p.R395R	NM_014314	NP_055129	O95786	DDX58_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide	466					detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	p.R466W(1)		ovary(2)|liver(1)|pancreas(1)	4			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)														---	---	---	---
TOPORS	10210	broad.mit.edu	37	9	32543961	32543961	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:32543961G>A	uc003zrb.2	-	3	729	c.562C>T	c.(562-564)CGA>TGA	p.R188*	TOPORS_uc003zrc.2_Nonsense_Mutation_p.R121*	NM_005802	NP_005793	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich	188	E3 ubiquitin-protein ligase activity.|Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)														---	---	---	---
NFX1	4799	broad.mit.edu	37	9	33319097	33319097	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33319097C>T	uc003zsq.2	+	9	1939	c.1878C>T	c.(1876-1878)TGC>TGT	p.C626C	SUGT1P1_uc010mjq.1_Intron|NFX1_uc011lnw.1_Silent_p.C626C|NFX1_uc003zso.2_Silent_p.C626C|NFX1_uc003zsp.1_Silent_p.C626C|NFX1_uc010mjr.1_Silent_p.C626C|NFX1_uc003zsr.2_Silent_p.C626C	NM_002504	NP_002495	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	626					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)														---	---	---	---
DNAI1	27019	broad.mit.edu	37	9	34500841	34500841	+	Intron	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34500841A>C	uc003zum.2	+							NM_012144	NP_036276			dynein, axonemal, intermediate chain 1						cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity				0	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)										Kartagener_syndrome		OREG0019152	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
KIAA1045	23349	broad.mit.edu	37	9	34972451	34972451	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34972451G>T	uc003zvq.2	+	3	665	c.487G>T	c.(487-489)GGC>TGC	p.G163C	KIAA1045_uc003zvr.2_Missense_Mutation_p.G163C	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	hypothetical protein LOC23349	163	PHD-type.						calcium ion binding			skin(1)	1			LUSC - Lung squamous cell carcinoma(32;0.00575)															---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35555990	35555990	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35555990A>G	uc003zww.2	+	4	2953	c.2698A>G	c.(2698-2700)AGG>GGG	p.R900G	RUSC2_uc010mkq.2_RNA|RUSC2_uc003zwx.3_Missense_Mutation_p.R900G	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	900						cytosol				ovary(1)	1			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35722156	35722156	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35722156C>T	uc003zxt.2	-	9	1262	c.908G>A	c.(907-909)CGT>CAT	p.R303H		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	303	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
TLN1	7094	broad.mit.edu	37	9	35724274	35724274	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35724274G>A	uc003zxt.2	-	6	923	c.569C>T	c.(568-570)ACG>ATG	p.T190M	TLN1_uc003zxu.3_Missense_Mutation_p.T190M	NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	talin 1	190	FERM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			lung(7)|breast(3)|ovary(2)|central_nervous_system(1)	13	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)															---	---	---	---
GBA2	57704	broad.mit.edu	37	9	35741827	35741827	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35741827G>A	uc003zxw.2	-	4	1152	c.628C>T	c.(628-630)CGC>TGC	p.R210C	GBA2_uc011lpb.1_Missense_Mutation_p.R210C|GBA2_uc011lpc.1_Missense_Mutation_p.R210C|GBA2_uc011lpd.1_Missense_Mutation_p.R216C|GBA2_uc003zxy.1_5'UTR	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	bile acid beta-glucosidase	210	Extracellular (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)															---	---	---	---
NPR2	4882	broad.mit.edu	37	9	35809174	35809174	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:35809174C>A	uc003zyd.2	+	21	3008	c.3008C>A	c.(3007-3009)TCT>TAT	p.S1003Y	NPR2_uc010mlb.2_Missense_Mutation_p.S979Y|SPAG8_uc003zye.2_Intron	NM_003995	NP_003986	P20594	ANPRB_HUMAN	natriuretic peptide receptor B precursor	1003	Cytoplasmic (Potential).				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			ovary(2)|stomach(1)	3	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)													---	---	---	---
RECK	8434	broad.mit.edu	37	9	36060158	36060158	+	Intron	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36060158C>A	uc003zyv.2	+						RECK_uc010mld.2_Intron|RECK_uc003zyu.3_Intron|RECK_uc003zyw.2_Intron|RECK_uc010mle.1_Intron|RECK_uc003zyx.2_Intron	NM_021111	NP_066934			RECK protein precursor							anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)															---	---	---	---
RECK	8434	broad.mit.edu	37	9	36109988	36109988	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36109988C>T	uc003zyv.2	+	15	1886	c.1800C>T	c.(1798-1800)GTC>GTT	p.V600V	RECK_uc003zyw.2_Silent_p.V472V|RECK_uc003zyx.2_RNA	NM_021111	NP_066934	O95980	RECK_HUMAN	RECK protein precursor	600						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			skin(2)|ovary(1)	3			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)															---	---	---	---
GNE	10020	broad.mit.edu	37	9	36229084	36229084	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:36229084C>T	uc010mlh.2	-	6	1219	c.1004G>A	c.(1003-1005)CGG>CAG	p.R335Q	CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.R335Q|GNE_uc011lpl.1_Missense_Mutation_p.R225Q|GNE_uc010mli.2_Missense_Mutation_p.R366Q|GNE_uc010mlj.2_Missense_Mutation_p.R330Q	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	UDP-N-acetylglucosamine-2-epimerase/N-	335	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)															---	---	---	---
ALDH1B1	219	broad.mit.edu	37	9	38397269	38397269	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:38397269C>T	uc004aay.2	+	2	1636	c.1524C>T	c.(1522-1524)GTC>GTT	p.V508V		NM_000692	NP_000683	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1B1 precursor	508					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			skin(1)	1				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)													---	---	---	---
CNTNAP3	79937	broad.mit.edu	37	9	39132956	39132956	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:39132956C>T	uc004abi.2	-	13	2292	c.2053G>A	c.(2053-2055)GGG>AGG	p.G685R	CNTNAP3_uc004abj.2_Missense_Mutation_p.G684R|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.G685R|CNTNAP3_uc011lqs.1_Missense_Mutation_p.G591R|CNTNAP3_uc004abl.1_Missense_Mutation_p.G504R	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	685	Fibrinogen C-terminal.|Extracellular (Potential).				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)														---	---	---	---
CNTNAP3	79937	broad.mit.edu	37	9	39177488	39177488	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:39177488G>T	uc004abi.2	-	6	993	c.754C>A	c.(754-756)CTG>ATG	p.L252M	CNTNAP3_uc004abj.2_Missense_Mutation_p.L252M|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.L252M|CNTNAP3_uc011lqs.1_Missense_Mutation_p.L252M|CNTNAP3_uc004abl.1_Missense_Mutation_p.L164M	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	cell recognition molecule CASPR3 precursor	252	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)														---	---	---	---
ANKRD20A3	441425	broad.mit.edu	37	9	42368576	42368576	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:42368576G>A	uc004acd.2	+	1	274	c.162G>A	c.(160-162)GCG>GCA	p.A54A	ANKRD20A3_uc010mmv.2_Silent_p.A54A	NM_001012419	NP_001012419	Q5VUR7	A20A3_HUMAN	ankyrin repeat domain 20 family, member A3	54											0																		---	---	---	---
PGM5	5239	broad.mit.edu	37	9	70993145	70993145	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:70993145A>G	uc004agr.2	+	2	521	c.292A>G	c.(292-294)ATC>GTC	p.I98V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	98					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2																		---	---	---	---
TRPM3	80036	broad.mit.edu	37	9	73167808	73167808	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:73167808G>A	uc004aid.2	-	23	3734	c.3490C>T	c.(3490-3492)CGA>TGA	p.R1164*	TRPM3_uc004ahu.2_Nonsense_Mutation_p.R1006*|TRPM3_uc004ahv.2_Nonsense_Mutation_p.R966*|TRPM3_uc004ahw.2_Nonsense_Mutation_p.R1036*|TRPM3_uc004ahx.2_Nonsense_Mutation_p.R1023*|TRPM3_uc004ahy.2_Nonsense_Mutation_p.R1026*|TRPM3_uc004ahz.2_Nonsense_Mutation_p.R1013*|TRPM3_uc004aia.2_Nonsense_Mutation_p.R1011*|TRPM3_uc004aib.2_Nonsense_Mutation_p.R1001*|TRPM3_uc004aic.2_Nonsense_Mutation_p.R1164*	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel,	1189	Cytoplasmic (Potential).					integral to membrane	calcium channel activity			ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9																		---	---	---	---
TMC1	117531	broad.mit.edu	37	9	75420336	75420336	+	Silent	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:75420336C>A	uc004aiz.1	+	18	2145	c.1605C>A	c.(1603-1605)ACC>ACA	p.T535T	TMC1_uc010moz.1_Silent_p.T493T|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.T389T|TMC1_uc010mpa.1_Silent_p.T389T	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	535	Cytoplasmic (Potential).				sensory perception of sound	integral to membrane				ovary(1)	1																		---	---	---	---
ANXA1	301	broad.mit.edu	37	9	75774283	75774283	+	Nonsense_Mutation	SNP	C	T	T	rs76459132		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:75774283C>T	uc004ajf.1	+	4	288	c.214C>T	c.(214-216)CGA>TGA	p.R72*	ANXA1_uc004aje.1_Nonsense_Mutation_p.R72*|ANXA1_uc004ajg.1_Nonsense_Mutation_p.R72*	NM_000700	NP_000691	P04083	ANXA1_HUMAN	annexin I	72	Annexin 1.				alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)	2		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)													---	---	---	---
FOXB2	442425	broad.mit.edu	37	9	79634612	79634612	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79634612G>A	uc004ako.1	+	1	42	c.42G>A	c.(40-42)CCG>CCA	p.P14P		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	forkhead box B2	14	Fork-head.				brain development|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																		---	---	---	---
GNA14	9630	broad.mit.edu	37	9	80262590	80262590	+	Silent	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:80262590C>A	uc004aku.2	-	1	643	c.120G>T	c.(118-120)CTG>CTT	p.L40L		NM_004297	NP_004288	O95837	GNA14_HUMAN	G alpha 14	40					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			ovary(2)	2																		---	---	---	---
Unknown	0	broad.mit.edu	37	9	82006669	82006669	+	IGR	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:82006669G>A								None (None upstream) : TLE4 (180209 downstream)																																			---	---	---	---
KIF27	55582	broad.mit.edu	37	9	86482715	86482715	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86482715G>A	uc004ana.2	-	13	2962	c.2818C>T	c.(2818-2820)CAA>TAA	p.Q940*	KIF27_uc010mpw.2_Nonsense_Mutation_p.Q874*|KIF27_uc010mpx.2_Intron	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	940	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5																		---	---	---	---
KIF27	55582	broad.mit.edu	37	9	86506375	86506375	+	Silent	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86506375C>A	uc004ana.2	-	6	1788	c.1644G>T	c.(1642-1644)CTG>CTT	p.L548L	KIF27_uc010mpw.2_Silent_p.L548L|KIF27_uc010mpx.2_Silent_p.L548L	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	kinesin family member 27	548	Potential.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			lung(4)|skin(1)	5																		---	---	---	---
CDK20	23552	broad.mit.edu	37	9	90588857	90588857	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90588857C>A	uc004apr.2	-	2	475	c.169G>T	c.(169-171)GAG>TAG	p.E57*	CDK20_uc004aps.2_Nonsense_Mutation_p.E57*|CDK20_uc004apt.2_Nonsense_Mutation_p.E70*|CDK20_uc004apu.2_Nonsense_Mutation_p.E57*	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	cell cycle related kinase isoform 3	57	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1																		---	---	---	---
BICD2	23299	broad.mit.edu	37	9	95481196	95481196	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95481196C>T	uc004aso.1	-	5	1788	c.1731G>A	c.(1729-1731)GCG>GCA	p.A577A	BICD2_uc004asp.1_Silent_p.A577A	NM_015250	NP_056065	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 isoform 2	577					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			skin(1)	1																		---	---	---	---
PTCH1	5727	broad.mit.edu	37	9	98238356	98238356	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98238356G>A	uc004avk.3	-	12	1876	c.1688C>T	c.(1687-1689)GCG>GTG	p.A563V	PTCH1_uc010mro.2_Missense_Mutation_p.A412V|PTCH1_uc010mrp.2_Missense_Mutation_p.A412V|PTCH1_uc010mrq.2_Missense_Mutation_p.A412V|PTCH1_uc004avl.3_Missense_Mutation_p.A412V|PTCH1_uc010mrr.2_Missense_Mutation_p.A497V|PTCH1_uc004avm.3_Missense_Mutation_p.A562V|PTCH1_uc010mrs.1_Missense_Mutation_p.A231V	NM_000264	NP_000255	Q13635	PTC1_HUMAN	patched isoform L	563	SSD.|Helical; (Potential).				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.A563V(1)		skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)												Basal_Cell_Nevus_syndrome				---	---	---	---
C9orf102	375748	broad.mit.edu	37	9	98691044	98691044	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:98691044A>G	uc004avt.3	+	11	2070	c.1682A>G	c.(1681-1683)GAT>GGT	p.D561G	C9orf102_uc010mrx.1_RNA|C9orf102_uc011lum.1_Missense_Mutation_p.D263G|C9orf102_uc010mry.1_Missense_Mutation_p.D263G|C9orf102_uc010mrz.2_Missense_Mutation_p.D372G|C9orf102_uc004avu.2_5'UTR	NM_001010895	NP_001010895	Q5T890	RAD26_HUMAN	RAD26L hypothetical protein	561	Helicase C-terminal.				DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding				0		Acute lymphoblastic leukemia(62;0.0559)																---	---	---	---
TMOD1	7111	broad.mit.edu	37	9	100328204	100328204	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100328204C>T	uc004axk.1	+	7	906	c.693C>T	c.(691-693)ATC>ATT	p.I231I	TMOD1_uc004axl.1_Silent_p.I231I	NM_003275	NP_003266	P28289	TMOD1_HUMAN	tropomodulin 1	231					muscle filament sliding	cytosol	actin binding				0		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)														---	---	---	---
C9orf156	51531	broad.mit.edu	37	9	100667176	100667176	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100667176G>A	uc004axv.1	-	5	1242	c.1165C>T	c.(1165-1167)CGG>TGG	p.R389W	C9orf156_uc004axw.1_Missense_Mutation_p.R286W|C9orf156_uc004axx.1_Missense_Mutation_p.R243W	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Nef associated protein 1	389					interspecies interaction between organisms		hydrolase activity				0		Acute lymphoblastic leukemia(62;0.158)																---	---	---	---
GABBR2	9568	broad.mit.edu	37	9	101065539	101065539	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:101065539C>T	uc004ays.2	-	16	2552	c.2396G>A	c.(2395-2397)CGA>CAA	p.R799Q		NM_005458	NP_005449	O75899	GABR2_HUMAN	G protein-coupled receptor 51 precursor	799	Potential.|Cytoplasmic (Potential).				negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			ovary(2)|skin(2)	4		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)													---	---	---	---
NIPSNAP3B	55335	broad.mit.edu	37	9	107528697	107528697	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107528697C>T	uc004bci.2	+	2	223	c.152C>T	c.(151-153)GCG>GTG	p.A51V	NIPSNAP3A_uc011lvu.1_Intron|NIPSNAP3B_uc004bcj.1_RNA	NM_018376	NP_060846	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B	51										pancreas(1)|skin(1)	2																		---	---	---	---
SLC44A1	23446	broad.mit.edu	37	9	108126837	108126837	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:108126837C>T	uc004bcn.2	+	10	1310	c.1089C>T	c.(1087-1089)GGC>GGT	p.G363G	SLC44A1_uc010mtk.1_Silent_p.G363G|SLC44A1_uc004bco.1_Silent_p.G155G	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	CDW92 antigen	363	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(3)|ovary(1)	4					Choline(DB00122)													---	---	---	---
KLF4	9314	broad.mit.edu	37	9	110250404	110250404	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:110250404G>T	uc004bdh.2	-	3	865	c.244C>A	c.(244-246)CTA>ATA	p.L82I	KLF4_uc004bdf.1_Missense_Mutation_p.L41I|KLF4_uc004bdg.2_Missense_Mutation_p.L91I	NM_004235	NP_004226	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	91					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(2)|lung(1)	3																		---	---	---	---
PTPN3	5774	broad.mit.edu	37	9	112200417	112200417	+	Silent	SNP	G	A	A	rs148263399		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:112200417G>A	uc004bed.2	-	8	676	c.564C>T	c.(562-564)GTC>GTT	p.V188V	PTPN3_uc004beb.2_Silent_p.V57V|PTPN3_uc004bec.2_Silent_p.V57V|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Silent_p.V188V|PTPN3_uc011lwh.1_Silent_p.V79V	NM_002829	NP_002820	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type	188	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			ovary(3)	3																		---	---	---	---
MUSK	4593	broad.mit.edu	37	9	113562945	113562945	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:113562945G>A	uc004bey.2	+	14	2385	c.2287G>A	c.(2287-2289)GCT>ACT	p.A763T	MUSK_uc004bez.1_Missense_Mutation_p.A343T	NM_005592	NP_005583	O15146	MUSK_HUMAN	skeletal muscle receptor tyrosine kinase	763	Protein kinase.|Cytoplasmic (Potential).				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|ovary(2)|central_nervous_system(1)	6																		---	---	---	---
PRPF4	9128	broad.mit.edu	37	9	116041300	116041300	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116041300G>A	uc004bgx.2	+	3	334	c.284G>A	c.(283-285)CGA>CAA	p.R95Q	PRPF4_uc004bgy.2_Missense_Mutation_p.R94Q	NM_004697	NP_004688	O43172	PRP4_HUMAN	PRP4 pre-mRNA processing factor 4 homolog	95				HISERQAEVLAEFERRKRARQINVST -> ISASDRQKYWL SLREGSEPGRSMFPP (in Ref. 3; AAC02261).		Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			ovary(2)|pancreas(1)	3																		---	---	---	---
RGS3	5998	broad.mit.edu	37	9	116346603	116346603	+	Missense_Mutation	SNP	G	T	T	rs145465954		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116346603G>T	uc004bhq.2	+	21	3120	c.2911G>T	c.(2911-2913)GCC>TCC	p.A971S	RGS3_uc004bhs.2_Missense_Mutation_p.A861S|RGS3_uc004bht.2_Missense_Mutation_p.A690S|RGS3_uc010muy.2_Intron|RGS3_uc004bhv.2_Missense_Mutation_p.A292S|RGS3_uc010muz.1_Missense_Mutation_p.A310S|RGS3_uc004bhw.2_Intron|RGS3_uc011lxh.1_Missense_Mutation_p.A281S|RGS3_uc004bhx.2_Missense_Mutation_p.A292S|RGS3_uc004bhy.1_Missense_Mutation_p.A281S|RGS3_uc004bhz.2_Missense_Mutation_p.A313S	NM_144488	NP_652759	P49796	RGS3_HUMAN	regulator of G-protein signalling 3 isoform 6	971					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			ovary(1)|lung(1)|skin(1)	3																		---	---	---	---
ORM1	5004	broad.mit.edu	37	9	117087107	117087107	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117087107C>T	uc004bik.3	+	4	477	c.366C>T	c.(364-366)CTC>CTT	p.L122L	ORM1_uc011lxo.1_Silent_p.L122L	NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor	122					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)													---	---	---	---
ORM1	5004	broad.mit.edu	37	9	117087171	117087171	+	Missense_Mutation	SNP	G	T	T	rs1126746	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117087171G>T	uc004bik.3	+	4	541	c.430G>T	c.(430-432)GTC>TTC	p.V144F	ORM1_uc011lxo.1_Missense_Mutation_p.V144F	NM_000607	NP_000598	P02763	A1AG1_HUMAN	orosomucoid 1 precursor	144					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding				0		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)													---	---	---	---
ORM2	5005	broad.mit.edu	37	9	117093866	117093866	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117093866T>C	uc004bil.2	+	4	464	c.348T>C	c.(346-348)GTT>GTC	p.V116V	ORM1_uc011lxo.1_Intron	NM_000608	NP_000599	P19652	A1AG2_HUMAN	orosomucoid 2 precursor	116					acute-phase response|regulation of immune system process|transport	extracellular space	binding				0		Myeloproliferative disorder(63;0.163)																---	---	---	---
AKNA	80709	broad.mit.edu	37	9	117143549	117143549	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117143549C>T	uc004biq.3	-	1	200	c.65G>A	c.(64-66)CGG>CAG	p.R22Q	AKNA_uc004bir.3_Missense_Mutation_p.R22Q|AKNA_uc004bis.3_Missense_Mutation_p.R22Q|AKNA_uc010mve.2_Intron|AKNA_uc004biu.1_5'UTR|AKNA_uc004biv.1_Missense_Mutation_p.R22Q|AKNA_uc004biw.1_Missense_Mutation_p.R22Q	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
DFNB31	25861	broad.mit.edu	37	9	117188531	117188531	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:117188531C>T	uc004biz.3	-	4	1775	c.1126G>A	c.(1126-1128)GCC>ACC	p.A376T	DFNB31_uc004bix.2_5'Flank|DFNB31_uc004biy.3_5'UTR|DFNB31_uc004bja.3_Missense_Mutation_p.A376T	NM_015404	NP_056219	Q9P202	WHRN_HUMAN	CASK-interacting protein CIP98 isoform 1	376					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				ovary(4)|central_nervous_system(1)|pancreas(1)	6																		---	---	---	---
DBC1	1620	broad.mit.edu	37	9	121971060	121971060	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:121971060C>T	uc004bkc.2	-	7	1538	c.1082G>A	c.(1081-1083)CGC>CAC	p.R361H		NM_014618	NP_055433	O60477	DBC1_HUMAN	deleted in bladder cancer 1 precursor	361					cell cycle arrest|cell death	cytoplasm	protein binding			skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8																		---	---	---	---
CEP110	11064	broad.mit.edu	37	9	123922460	123922460	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:123922460G>A	uc004bkx.1	+	30	5000	c.4969G>A	c.(4969-4971)GGA>AGA	p.G1657R	CEP110_uc010mvo.1_Missense_Mutation_p.G326R|CEP110_uc004blb.1_Missense_Mutation_p.G326R|CEP110_uc010mvp.1_5'UTR	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	centrosomal protein 110kDa	1657	Potential.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding				0																		---	---	---	---
OR1Q1	158131	broad.mit.edu	37	9	125377645	125377645	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125377645C>T	uc011lyy.1	+	1	629	c.629C>T	c.(628-630)GCT>GTT	p.A210V		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q,	210	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---
OR1B1	347169	broad.mit.edu	37	9	125391435	125391435	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125391435G>A	uc011lyz.1	-	1	380	c.380C>T	c.(379-381)GCC>GTC	p.A127V		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B,	127	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---
CRB2	286204	broad.mit.edu	37	9	126132598	126132598	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126132598C>T	uc004bnx.1	+	7	1358	c.1266C>T	c.(1264-1266)TAC>TAT	p.Y422Y	CRB2_uc004bnw.1_Silent_p.Y422Y	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 precursor	422	Extracellular (Potential).|EGF-like 9.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			ovary(1)	1																		---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126144339	126144339	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126144339C>T	uc004bnz.1	-	22	2635	c.2402G>A	c.(2401-2403)CGC>CAC	p.R801H	DENND1A_uc011lzl.1_Missense_Mutation_p.R619H|DENND1A_uc004bny.1_Missense_Mutation_p.R583H|DENND1A_uc011lzm.1_Missense_Mutation_p.R812H|DENND1A_uc010mwh.1_Missense_Mutation_p.R222H	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	801	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126145997	126145997	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:126145997C>A	uc004bnz.1	-	21	2006	c.1773G>T	c.(1771-1773)AAG>AAT	p.K591N	DENND1A_uc011lzl.1_Missense_Mutation_p.K409N|DENND1A_uc004bny.1_Missense_Mutation_p.K373N|DENND1A_uc011lzm.1_Missense_Mutation_p.K602N|DENND1A_uc010mwh.1_Missense_Mutation_p.K12N	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A isoform 1	591						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			ovary(2)	2																		---	---	---	---
ARPC5L	81873	broad.mit.edu	37	9	127637424	127637424	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:127637424C>T	uc004bpa.3	+	3	479	c.393C>T	c.(391-393)CAC>CAT	p.H131H	ARPC5L_uc011lzq.1_Silent_p.H79H	NM_030978	NP_112240	Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit	131					regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding				0																		---	---	---	---
ANGPTL2	23452	broad.mit.edu	37	9	129870758	129870758	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:129870758G>A	uc004bqr.1	-	2	753	c.253C>T	c.(253-255)CAT>TAT	p.H85Y	RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_Intron	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2 precursor	85	Potential.				multicellular organismal development|signal transduction	extracellular space	receptor binding				0																		---	---	---	---
GARNL3	84253	broad.mit.edu	37	9	130155448	130155448	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130155448C>T	uc011mae.1	+	28	3358	c.2957C>T	c.(2956-2958)GCA>GTA	p.A986V	GARNL3_uc011mad.1_Missense_Mutation_p.A964V|GARNL3_uc010mxi.2_Missense_Mutation_p.A216V	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	986					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			ovary(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
SLC2A8	29988	broad.mit.edu	37	9	130167094	130167094	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130167094C>T	uc004bqu.2	+						SLC2A8_uc010mxj.2_Intron|SLC2A8_uc004bqv.2_5'UTR	NM_014580	NP_055395			solute carrier family 2 (facilitated glucose							cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)	2																		---	---	---	---
FAM129B	64855	broad.mit.edu	37	9	130270248	130270248	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130270248G>A	uc004brh.2	-	13	1754	c.1552C>T	c.(1552-1554)CGG>TGG	p.R518W	FAM129B_uc004bri.2_Missense_Mutation_p.R505W|FAM129B_uc004brj.3_3'UTR	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	hypothetical protein LOC64855 isoform 1	518							protein binding				0																		---	---	---	---
STXBP1	6812	broad.mit.edu	37	9	130438095	130438095	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:130438095G>A	uc004brl.2	+	14	1320	c.1123G>A	c.(1123-1125)GGC>AGC	p.G375S	STXBP1_uc004brk.2_Missense_Mutation_p.G375S	NM_001032221	NP_001027392	P61764	STXB1_HUMAN	syntaxin binding protein 1 isoform b	375					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			skin(1)	1																		---	---	---	---
GOLGA2	2801	broad.mit.edu	37	9	131022430	131022430	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131022430C>T	uc011maw.1	-	18	1729	c.1716G>A	c.(1714-1716)TCG>TCA	p.S572S	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_Silent_p.S45S	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	572	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1																		---	---	---	---
GOLGA2	2801	broad.mit.edu	37	9	131022431	131022431	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131022431G>A	uc011maw.1	-	18	1728	c.1715C>T	c.(1714-1716)TCG>TTG	p.S572L	GOLGA2_uc010mxw.2_Intron|GOLGA2_uc004buh.2_Missense_Mutation_p.S45L	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Golgi autoantigen, golgin subfamily a, 2	572	Potential.					Golgi cisterna membrane	protein binding			ovary(1)	1																		---	---	---	---
SLC27A4	10999	broad.mit.edu	37	9	131105564	131105564	+	Silent	SNP	C	T	T	rs151270996		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131105564C>T	uc004but.2	+	2	437	c.153C>T	c.(151-153)CGC>CGT	p.R51R	SLC27A4_uc004buu.2_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid	51					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding				0																		---	---	---	---
GLE1	2733	broad.mit.edu	37	9	131286073	131286073	+	Missense_Mutation	SNP	G	A	A	rs148746665		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:131286073G>A	uc004bvj.2	+	6	959	c.845G>A	c.(844-846)CGA>CAA	p.R282Q	GLE1_uc004bvi.2_Missense_Mutation_p.R282Q|GLE1_uc010myd.2_Missense_Mutation_p.R28Q	NM_001003722	NP_001003722	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator homolog isoform 1	282					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding				0																		---	---	---	---
USP20	10868	broad.mit.edu	37	9	132632775	132632775	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132632775G>A	uc004bys.2	+	15	1820	c.1609G>A	c.(1609-1611)GTC>ATC	p.V537I	USP20_uc004byr.2_Missense_Mutation_p.V537I|USP20_uc004byt.1_Missense_Mutation_p.V537I	NM_001110303	NP_001103773	Q9Y2K6	UBP20_HUMAN	ubiquitin specific protease 20	537					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)																---	---	---	---
USP20	10868	broad.mit.edu	37	9	132637103	132637103	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132637103C>T	uc004bys.2	+						USP20_uc004byr.2_Intron|USP20_uc004byt.1_Intron	NM_001110303	NP_001103773			ubiquitin specific protease 20						endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			lung(1)|breast(1)	2		Ovarian(14;0.00556)																---	---	---	---
RAPGEF1	2889	broad.mit.edu	37	9	134494506	134494506	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:134494506C>T	uc004cbc.2	-						RAPGEF1_uc004cbb.2_Intron|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Missense_Mutation_p.A654T|RAPGEF1_uc004cbd.2_Intron|RAPGEF1_uc010mzs.1_Intron|RAPGEF1_uc010mzl.1_Missense_Mutation_p.A94T|RAPGEF1_uc010mzo.1_Intron|RAPGEF1_uc010mzp.1_Intron|RAPGEF1_uc010mzq.1_Missense_Mutation_p.A94T|RAPGEF1_uc010mzr.1_Missense_Mutation_p.A95T	NM_005312	NP_005303			guanine nucleotide-releasing factor 2 isoform a						activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			lung(3)|ovary(2)|breast(1)|skin(1)	7		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)														---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135781361	135781361	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135781361G>T	uc004cca.2	-	15	1838	c.1604C>A	c.(1603-1605)CCT>CAT	p.P535H	TSC1_uc004ccb.3_Missense_Mutation_p.P534H|TSC1_uc011mcq.1_Missense_Mutation_p.P484H|TSC1_uc011mcr.1_Intron	NM_000368	NP_000359	Q92574	TSC1_HUMAN	tuberous sclerosis 1 protein isoform 1	535					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1)	14				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)				D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				---	---	---	---
SURF6	6838	broad.mit.edu	37	9	136199028	136199028	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136199028C>T	uc004cdb.3	-	5	841	c.763G>A	c.(763-765)GGC>AGC	p.G255S		NM_006753	NP_006744	O75683	SURF6_HUMAN	surfeit 6	255						granular component	DNA binding|RNA binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05)														---	---	---	---
RPL7A	6130	broad.mit.edu	37	9	136216547	136216547	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:136216547G>A	uc004cde.1	+	3	296	c.266G>A	c.(265-267)CGC>CAC	p.R89H	MED22_uc004cdc.2_5'Flank|MED22_uc004cdd.2_5'Flank|RPL7A_uc004cdf.1_5'UTR|SNORD36B_uc010nai.1_5'Flank|SNORD36A_uc010naj.2_5'Flank|SNORD36C_uc010nak.2_5'Flank	NM_000972	NP_000963	P62424	RL7A_HUMAN	ribosomal protein L7a	89					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome				0				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)														---	---	---	---
KIAA0649	9858	broad.mit.edu	37	9	138376815	138376815	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:138376815C>T	uc004cfr.1	+	4	1008	c.459C>T	c.(457-459)GGC>GGT	p.G153G		NM_014811	NP_055626	Q5T8A7	K0649_HUMAN	1A6/DRIM (down-regulated in metastasis)	153						nucleolus	protein binding			ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06)														---	---	---	---
CARD9	64170	broad.mit.edu	37	9	139264209	139264209	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139264209C>T	uc004chg.3	-	7	1236	c.1070G>A	c.(1069-1071)CGG>CAG	p.R357Q	CARD9_uc011mdw.1_Missense_Mutation_p.R357Q|CARD9_uc011mdx.1_Missense_Mutation_p.R253Q	NM_052813	NP_434700	Q9H257	CARD9_HUMAN	caspase recruitment domain protein 9 isoform 1	357	Potential.				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			pancreas(1)|lung(1)|skin(1)	3		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)														---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139273404	139273404	+	Missense_Mutation	SNP	C	T	T	rs138416365		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139273404C>T	uc004chh.2	-	21	2884	c.2875G>A	c.(2875-2877)GCG>ACG	p.A959T		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex,	959	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity				0		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)														---	---	---	---
SEC16A	9919	broad.mit.edu	37	9	139370120	139370120	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139370120C>T	uc004chx.2	-	3	2257	c.1948G>A	c.(1948-1950)GCC>ACC	p.A650T	SEC16A_uc004chv.3_Missense_Mutation_p.A277T|SEC16A_uc004chw.2_Missense_Mutation_p.A650T|SEC16A_uc010nbn.2_Missense_Mutation_p.A650T|SEC16A_uc010nbo.1_Missense_Mutation_p.A650T	NM_014866	NP_055681	O15027	SC16A_HUMAN	SEC16 homolog A	472					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane					0		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)														---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139395257	139395257	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139395257C>T	uc004chz.2	-	31	5681	c.5681G>A	c.(5680-5682)GGC>GAC	p.G1894D		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	1894	Cytoplasmic (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)				T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139911183	139911183	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:139911183G>A	uc011mem.1	-	19	2911	c.2763C>T	c.(2761-2763)TAC>TAT	p.Y921Y	ABCA2_uc011mel.1_Silent_p.Y922Y|ABCA2_uc004ckl.1_Silent_p.Y852Y|ABCA2_uc004ckm.1_Silent_p.Y952Y|ABCA2_uc004ckn.1_RNA	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A, member 2	921					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)														---	---	---	---
NDOR1	27158	broad.mit.edu	37	9	140108310	140108310	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140108310C>T	uc004clw.2	+	4	501	c.390C>T	c.(388-390)GGC>GGT	p.G130G	NDOR1_uc004clx.2_Silent_p.G130G|NDOR1_uc011mes.1_Silent_p.G130G|NDOR1_uc004cly.2_Silent_p.G130G	NM_014434	NP_055249	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	130	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding				0	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)														---	---	---	---
C9orf167	54863	broad.mit.edu	37	9	140173575	140173575	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140173575C>T	uc004cmn.2	+	2	551	c.434C>T	c.(433-435)GCG>GTG	p.A145V	C9orf167_uc011mew.1_5'Flank	NM_017723	NP_060193	Q9NXH8	CI167_HUMAN	hypothetical protein LOC54863	145					chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity			pancreas(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.07e-05)|Epithelial(140;0.000728)														---	---	---	---
DIP2C	22982	broad.mit.edu	37	10	323321	323321	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:323321G>A	uc001ifp.2	-	37	4705	c.4615C>T	c.(4615-4617)CGA>TGA	p.R1539*		NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C	1539						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)														---	---	---	---
ADARB2	105	broad.mit.edu	37	10	1284257	1284257	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:1284257G>A	uc009xhq.2	-	5	1672	c.1298C>T	c.(1297-1299)GCG>GTG	p.A433V		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2	433	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			large_intestine(2)|central_nervous_system(1)	3		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)														---	---	---	---
PITRM1	10531	broad.mit.edu	37	10	3207490	3207490	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:3207490G>A	uc010qah.1	-	5	506	c.474C>T	c.(472-474)AGC>AGT	p.S158S	PITRM1_uc001igr.1_Silent_p.S190S|PITRM1_uc001igt.1_Silent_p.S190S|PITRM1_uc001igu.1_Silent_p.S182S|PITRM1_uc010qai.1_Silent_p.S161S|PITRM1_uc001igw.1_Silent_p.S190S|uc001igx.1_Intron			E7ES23	E7ES23_HUMAN	SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA;	158					proteolysis		metalloendopeptidase activity|zinc ion binding			pancreas(1)	1																		---	---	---	---
AKR1E2	83592	broad.mit.edu	37	10	4877893	4877893	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:4877893C>T	uc001ihi.2	+	4	466	c.351C>T	c.(349-351)AGC>AGT	p.S117S	AKR1E2_uc001ihl.1_RNA|AKR1E2_uc010qam.1_Silent_p.S78S|AKR1E2_uc001ihh.1_Silent_p.S117S|AKR1E2_uc009xhw.2_Silent_p.S117S|AKR1E2_uc001ihj.2_RNA|AKR1E2_uc001ihk.2_Silent_p.S117S	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	117						cytoplasm	1,5-anhydro-D-fructose reductase activity				0																		---	---	---	---
UCN3	114131	broad.mit.edu	37	10	5416059	5416059	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5416059G>A	uc001ihx.1	+	2	600	c.376G>A	c.(376-378)GTC>ATC	p.V126I		NM_053049	NP_444277	Q969E3	UCN3_HUMAN	urocortin 3 preproprotein	126						extracellular region	hormone activity				0																		---	---	---	---
NET1	10276	broad.mit.edu	37	10	5493826	5493826	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5493826C>T	uc001iia.2	+	4	427	c.289C>T	c.(289-291)CGT>TGT	p.R97C	NET1_uc010qar.1_5'UTR|NET1_uc001iib.2_Missense_Mutation_p.R43C|NET1_uc010qas.1_5'UTR	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	97					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1																		---	---	---	---
IL15RA	3601	broad.mit.edu	37	10	6001754	6001754	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:6001754G>A	uc001iiv.2	-						IL15RA_uc001iiu.2_Intron|IL15RA_uc010qau.1_Intron|IL15RA_uc001iiw.2_Intron|IL15RA_uc001iix.2_Intron|IL15RA_uc001iiy.2_Intron	NM_002189	NP_002180			interleukin 15 receptor, alpha isoform 1						cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity				0																		---	---	---	---
ITIH2	3698	broad.mit.edu	37	10	7763613	7763613	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7763613C>T	uc001ijs.2	+	8	902	c.740C>T	c.(739-741)GCG>GTG	p.A247V		NM_002216	NP_002207	P19823	ITIH2_HUMAN	inter-alpha globulin inhibitor H2 polypeptide	247					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
TAF3	83860	broad.mit.edu	37	10	7866287	7866287	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7866287G>A	uc010qbd.1	+	2	173	c.173G>A	c.(172-174)CGA>CAA	p.R58Q		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	58					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---
TAF3	83860	broad.mit.edu	37	10	8055778	8055778	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:8055778G>A	uc010qbd.1	+	6	2653	c.2653G>A	c.(2653-2655)GAC>AAC	p.D885N		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	RNA polymerase II transcription factor TAFII140	885	PHD-type.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			ovary(1)	1																		---	---	---	---
MCM10	55388	broad.mit.edu	37	10	13213236	13213236	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:13213236C>T	uc001ima.2	+	3	423	c.322C>T	c.(322-324)CGA>TGA	p.R108*	MCM10_uc001imb.2_Nonsense_Mutation_p.R108*|MCM10_uc001imc.2_Nonsense_Mutation_p.R108*	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	108					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16918974	16918974	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16918974C>T	uc001ioo.2	-	57	9080	c.9028G>A	c.(9028-9030)GCT>ACT	p.A3010T	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.A366T	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	3010	CUB 22.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16941114	16941114	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16941114C>T	uc001ioo.2	-	54	8531	c.8479G>A	c.(8479-8481)GAA>AAA	p.E2827K	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.E183K	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2827	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)													---	---	---	---
CACNB2	783	broad.mit.edu	37	10	18690886	18690886	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18690886G>A	uc001ipr.2	+	3	307	c.247G>A	c.(247-249)GAT>AAT	p.D83N	CACNB2_uc009xjz.1_Missense_Mutation_p.D83N|CACNB2_uc001ips.2_Missense_Mutation_p.D83N|CACNB2_uc001ipt.2_Missense_Mutation_p.D83N|CACNB2_uc010qcl.1_RNA|CACNB2_uc001ipu.2_Missense_Mutation_p.D55N|CACNB2_uc001ipv.2_Missense_Mutation_p.D55N|CACNB2_uc009xka.1_Missense_Mutation_p.D55N|CACNB2_uc001ipw.2_Missense_Mutation_p.D28N|CACNB2_uc001ipx.2_Missense_Mutation_p.D28N|CACNB2_uc009xkb.1_Missense_Mutation_p.D29N|CACNB2_uc010qcm.1_Missense_Mutation_p.D29N|CACNB2_uc001ipz.2_Missense_Mutation_p.D29N|CACNB2_uc001ipy.2_Missense_Mutation_p.D29N|CACNB2_uc010qcn.1_Missense_Mutation_p.D35N|CACNB2_uc010qco.1_Missense_Mutation_p.D35N|CACNB2_uc001iqa.2_Missense_Mutation_p.D35N	NM_201596	NP_963890	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2	83					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			large_intestine(1)|central_nervous_system(1)|skin(1)	3					Magnesium Sulfate(DB00653)|Verapamil(DB00661)													---	---	---	---
NSUN6	221078	broad.mit.edu	37	10	18834977	18834977	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:18834977G>A	uc010qcp.1	-	11	1713	c.1295C>T	c.(1294-1296)CCG>CTG	p.P432L	NSUN6_uc001iqb.2_5'Flank	NM_182543	NP_872349	Q8TEA1	NSUN6_HUMAN	NOL1/NOP2/Sun domain family, member 6	432							methyltransferase activity|RNA binding			ovary(2)	2																		---	---	---	---
C10orf67	256815	broad.mit.edu	37	10	23611427	23611427	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:23611427G>T	uc010qcx.1	-	3	436	c.370C>A	c.(370-372)CAA>AAA	p.Q124K		NM_153714	NP_714925	Q8IYJ2	CJ067_HUMAN	hypothetical protein LOC256815	124											0																		---	---	---	---
KIAA1217	56243	broad.mit.edu	37	10	24783528	24783528	+	Silent	SNP	G	A	A	rs143298890		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:24783528G>A	uc001iru.3	+	7	2182	c.1779G>A	c.(1777-1779)GCG>GCA	p.A593A	KIAA1217_uc001irs.2_Silent_p.A513A|KIAA1217_uc001irt.3_Intron|KIAA1217_uc010qcy.1_Intron|KIAA1217_uc010qcz.1_Intron|KIAA1217_uc001irv.1_Intron|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.2_Intron|KIAA1217_uc001irz.2_Intron|KIAA1217_uc001irx.2_Intron|KIAA1217_uc001iry.2_Intron	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	sickle tail isoform 1	593					embryonic skeletal system development	cytoplasm				ovary(5)|skin(2)	7																		---	---	---	---
ARHGAP21	57584	broad.mit.edu	37	10	24880828	24880828	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:24880828C>T	uc001isb.2	-	22	4477	c.3990G>A	c.(3988-3990)ACG>ACA	p.T1330T	ARHGAP21_uc010qdb.1_RNA	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1329	Rho-GAP.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			ovary(7)|pancreas(1)	8																		---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25464598	25464598	+	Silent	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:25464598C>A	uc001isj.2	+	1	309	c.249C>A	c.(247-249)GCC>GCA	p.A83A	LOC100128811_uc010qde.1_Intron	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	83	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8																		---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26508086	26508086	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:26508086A>T	uc001isp.2	+	4	904	c.401A>T	c.(400-402)GAT>GTT	p.D134V	GAD2_uc009xkr.2_Missense_Mutation_p.D134V|GAD2_uc001isq.2_Missense_Mutation_p.D134V	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	134					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)													---	---	---	---
GAD2	2572	broad.mit.edu	37	10	26508097	26508097	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:26508097C>T	uc001isp.2	+	4	915	c.412C>T	c.(412-414)CCT>TCT	p.P138S	GAD2_uc009xkr.2_Missense_Mutation_p.P138S|GAD2_uc001isq.2_Missense_Mutation_p.P138S	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	glutamate decarboxylase 2	138					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|skin(1)	2					L-Glutamic Acid(DB00142)													---	---	---	---
CCDC7	221016	broad.mit.edu	37	10	32762892	32762892	+	Intron	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:32762892C>A	uc001iwj.2	+						CCDC7_uc009xlu.1_Intron|CCDC7_uc001iwk.2_Intron|CCDC7_uc009xlv.2_Intron|CCDC7_uc009xlw.1_Intron|CCDC7_uc009xlx.1_Intron|CCDC7_uc009xly.1_Intron	NM_145023	NP_659460			coiled-coil domain containing 7												0		Breast(68;0.000207)|Prostate(175;0.0107)																---	---	---	---
NRP1	8829	broad.mit.edu	37	10	33495128	33495128	+	Intron	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:33495128T>C	uc001iwx.3	-						NRP1_uc001iwv.3_Intron|NRP1_uc009xlz.2_Intron|NRP1_uc001iww.3_Intron|NRP1_uc001iwy.3_Intron|NRP1_uc001iwz.2_Intron|NRP1_uc001ixa.2_Intron|NRP1_uc001ixb.1_Intron	NM_003873	NP_003864			neuropilin 1 isoform a						axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)													---	---	---	---
PARD3	56288	broad.mit.edu	37	10	34667035	34667035	+	Splice_Site	SNP	C	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:34667035C>G	uc010qej.1	-	10	1400	c.1400_splice	c.e10-1	p.G467_splice	PARD3_uc010qek.1_Splice_Site_p.G467_splice|PARD3_uc010qel.1_Splice_Site_p.G467_splice|PARD3_uc010qem.1_Splice_Site_p.G467_splice|PARD3_uc010qen.1_Splice_Site_p.G467_splice|PARD3_uc010qeo.1_Splice_Site_p.G467_splice|PARD3_uc010qep.1_Splice_Site_p.G423_splice|PARD3_uc010qeq.1_Splice_Site_p.G423_splice|PARD3_uc001ixo.1_Splice_Site_p.G197_splice|PARD3_uc001ixp.1_Splice_Site_p.G332_splice|PARD3_uc001ixq.1_Splice_Site_p.G467_splice|PARD3_uc001ixr.1_Splice_Site_p.G467_splice|PARD3_uc001ixt.1_Splice_Site_p.G288_splice|PARD3_uc001ixu.1_Splice_Site_p.G423_splice|PARD3_uc001ixs.1_Splice_Site_p.G120_splice	NM_019619	NP_062565			partitioning-defective protein 3 homolog						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			ovary(1)	1		Breast(68;0.0707)																---	---	---	---
BMS1	9790	broad.mit.edu	37	10	43288456	43288456	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:43288456C>T	uc001jaj.2	+	8	1311	c.953C>T	c.(952-954)GCT>GTT	p.A318V		NM_014753	NP_055568	Q14692	BMS1_HUMAN	BMS1-like, ribosome assembly protein	318					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			ovary(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
ANUBL1	93550	broad.mit.edu	37	10	46121631	46121631	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:46121631C>T	uc001jcp.3	-	7	1882	c.1640G>A	c.(1639-1641)CGG>CAG	p.R547Q	ANUBL1_uc001jcl.3_Missense_Mutation_p.R67Q|ANUBL1_uc001jcm.3_Missense_Mutation_p.R547Q|ANUBL1_uc009xmu.2_Missense_Mutation_p.R473Q|ANUBL1_uc001jcn.3_Missense_Mutation_p.R473Q|ANUBL1_uc001jco.3_Intron	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN	AN1, ubiquitin-like, homolog	547							zinc ion binding				0																		---	---	---	---
SYT15	83849	broad.mit.edu	37	10	46961987	46961987	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:46961987G>A	uc001jea.2	-	8	1402	c.1249C>T	c.(1249-1251)CGC>TGC	p.R417C	SYT15_uc001jdz.2_Intron|SYT15_uc001jeb.2_Missense_Mutation_p.R295C|SYT15_uc010qfp.1_RNA	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	synaptotagmin XV isoform a	417	Cytoplasmic (Potential).					integral to membrane|plasma membrane					0																		---	---	---	---
MAPK8	5599	broad.mit.edu	37	10	49618095	49618095	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:49618095G>T	uc009xnz.2	+	5	558	c.334G>T	c.(334-336)GAT>TAT	p.D112Y	MAPK8_uc001jgl.2_Missense_Mutation_p.D112Y|MAPK8_uc001jgm.2_Missense_Mutation_p.D112Y|MAPK8_uc001jgo.2_Missense_Mutation_p.D112Y|MAPK8_uc009xoa.2_Missense_Mutation_p.D112Y|MAPK8_uc001jgn.2_Missense_Mutation_p.D112Y|MAPK8_uc010qgk.1_Missense_Mutation_p.D112Y|MAPK8_uc001jgp.2_Missense_Mutation_p.D112Y|MAPK8_uc001jgq.2_Missense_Mutation_p.D112Y	NM_139047	NP_620635	P45983	MK08_HUMAN	mitogen-activated protein kinase 8 isoform JNK1	112	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|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|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1)	8		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)														---	---	---	---
NCOA4	8031	broad.mit.edu	37	10	51580588	51580588	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:51580588T>C	uc001jis.3	+	3	377	c.174T>C	c.(172-174)CGT>CGC	p.R58R	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|NCOA4_uc009xon.2_Silent_p.R74R|NCOA4_uc010qhd.1_Silent_p.R74R|NCOA4_uc010qhe.1_5'UTR|NCOA4_uc010qhf.1_Intron|NCOA4_uc001jit.2_Silent_p.R58R|NCOA4_uc009xoo.2_Silent_p.R58R	NM_001145263	NP_001138735	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4 isoform 3	58					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			central_nervous_system(1)|kidney(1)	2								T	RET	papillary thyroid 								---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55913038	55913038	+	Missense_Mutation	SNP	C	T	T	rs140516168	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55913038C>T	uc001jju.1	-	14	2001	c.1606G>A	c.(1606-1608)GCA>ACA	p.A536T	PCDH15_uc010qhq.1_Missense_Mutation_p.A541T|PCDH15_uc010qhr.1_Missense_Mutation_p.A536T|PCDH15_uc010qhs.1_Missense_Mutation_p.A548T|PCDH15_uc010qht.1_Missense_Mutation_p.A543T|PCDH15_uc010qhu.1_Missense_Mutation_p.A536T|PCDH15_uc001jjv.1_Missense_Mutation_p.A514T|PCDH15_uc010qhv.1_Missense_Mutation_p.A536T|PCDH15_uc010qhw.1_Missense_Mutation_p.A499T|PCDH15_uc010qhx.1_Missense_Mutation_p.A536T|PCDH15_uc010qhy.1_Missense_Mutation_p.A541T|PCDH15_uc010qhz.1_Missense_Mutation_p.A536T|PCDH15_uc010qia.1_Missense_Mutation_p.A514T|PCDH15_uc010qib.1_Missense_Mutation_p.A514T|PCDH15_uc001jjw.2_Missense_Mutation_p.A536T	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD1-4 precursor	536	Cadherin 5.|Extracellular (Potential).				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13		Melanoma(3;0.117)|Lung SC(717;0.238)													HNSCC(58;0.16)			---	---	---	---
PHYHIPL	84457	broad.mit.edu	37	10	60936660	60936660	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:60936660C>A	uc001jkk.3	+	1	313	c.47C>A	c.(46-48)CCC>CAC	p.P16H	PHYHIPL_uc001jkl.3_5'UTR|PHYHIPL_uc001jkm.3_5'Flank	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting	16											0																		---	---	---	---
DNA2	1763	broad.mit.edu	37	10	70204681	70204681	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70204681C>G	uc001jof.2	-	8	1475	c.1475G>C	c.(1474-1476)AGC>ACC	p.S492T	DNA2_uc001jog.1_Missense_Mutation_p.S406T|DNA2_uc001joh.1_RNA	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	DNA replication helicase 2 homolog	406					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base				0																		---	---	---	---
TET1	80312	broad.mit.edu	37	10	70451193	70451193	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:70451193C>T	uc001jok.3	+	12	6538	c.6033C>T	c.(6031-6033)ATC>ATT	p.I2011I		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	CXXC finger 6	2011					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			ovary(5)|lung(2)|prostate(1)|breast(1)	9																		---	---	---	---
SAR1A	56681	broad.mit.edu	37	10	71921671	71921671	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:71921671T>A	uc010qjh.1	-	3	204	c.1A>T	c.(1-3)ATG>TTG	p.M1L	SAR1A_uc010qji.1_Missense_Mutation_p.M1L|SAR1A_uc010qjj.1_Intron	NM_001142648	NP_001136120	Q9NR31	SAR1A_HUMAN	SAR1a gene homolog 1	1					ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity				0																		---	---	---	---
KIAA1274	27143	broad.mit.edu	37	10	72292382	72292382	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72292382C>T	uc001jrd.3	+	6	920	c.639C>T	c.(637-639)CAC>CAT	p.H213H		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	KIAA1274	213										ovary(2)|central_nervous_system(1)	3																		---	---	---	---
ADAMTS14	140766	broad.mit.edu	37	10	72468410	72468410	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:72468410G>A	uc001jrh.2	+	4	746	c.746G>A	c.(745-747)CGG>CAG	p.R249Q	ADAMTS14_uc001jrg.2_Missense_Mutation_p.R249Q	NM_080722	NP_542453	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1	249					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(5)|upper_aerodigestive_tract(1)	6																		---	---	---	---
C10orf54	64115	broad.mit.edu	37	10	73521520	73521520	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:73521520G>A	uc001jsd.2	-	2	487	c.346C>T	c.(346-348)CGC>TGC	p.R116C	CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_5'UTR|C10orf54_uc009xqm.2_Intron|C10orf54_uc001jsf.1_Missense_Mutation_p.R116C	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	platelet receptor Gi24 precursor	116	Ig-like.|Extracellular (Potential).					integral to membrane	receptor activity			ovary(1)|breast(1)|central_nervous_system(1)	3																		---	---	---	---
P4HA1	5033	broad.mit.edu	37	10	74813170	74813170	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:74813170C>T	uc010qka.1	-	7	976	c.642G>A	c.(640-642)GCG>GCA	p.A214A	P4HA1_uc001jtg.2_Silent_p.A214A|P4HA1_uc001jth.2_Silent_p.A214A|P4HA1_uc010qkb.1_Silent_p.A214A|P4HA1_uc001jti.2_RNA	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha I subunit isoform 2	214	TPR.					endoplasmic reticulum lumen|mitochondrion	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			ovary(1)	1	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)													---	---	---	---
TTC18	118491	broad.mit.edu	37	10	75051670	75051670	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75051670C>A	uc009xrc.2	-	18	2204	c.2083G>T	c.(2083-2085)GCC>TCC	p.A695S	TTC18_uc001jty.2_Missense_Mutation_p.A695S|TTC18_uc001jtv.3_5'Flank|TTC18_uc001jtw.3_5'Flank|TTC18_uc001jtx.2_Missense_Mutation_p.A76S	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	695	TPR 2.						binding			ovary(2)|central_nervous_system(1)	3	Prostate(51;0.0119)																	---	---	---	---
SYNPO2L	79933	broad.mit.edu	37	10	75406755	75406755	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75406755C>A	uc001jut.3	-	4	2807	c.2655G>T	c.(2653-2655)CAG>CAT	p.Q885H	SYNPO2L_uc001jus.3_Missense_Mutation_p.Q661H	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	885	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)																	---	---	---	---
SYNPO2L	79933	broad.mit.edu	37	10	75407677	75407677	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75407677G>A	uc001jut.3	-	4	1885	c.1733C>T	c.(1732-1734)TCC>TTC	p.S578F	SYNPO2L_uc001jus.3_Missense_Mutation_p.S354F	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	synaptopodin 2-like isoform a	578	Pro-rich.					cytoplasm|cytoskeleton	actin binding			ovary(1)	1	Prostate(51;0.0112)																	---	---	---	---
KIAA0913	23053	broad.mit.edu	37	10	75554008	75554008	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75554008G>A	uc009xrl.2	+	13	2761	c.2729G>A	c.(2728-2730)CGG>CAG	p.R910Q	KIAA0913_uc001jve.2_Missense_Mutation_p.R910Q|KIAA0913_uc001jvf.2_Missense_Mutation_p.R910Q|KIAA0913_uc001jvh.2_RNA|KIAA0913_uc001jvi.2_Missense_Mutation_p.R333Q|KIAA0913_uc010qkr.1_Missense_Mutation_p.R333Q|KIAA0913_uc001jvj.2_Missense_Mutation_p.R333Q	NM_015037	NP_055852	A7E2V4	K0913_HUMAN	hypothetical protein LOC23053	910							zinc ion binding			breast(1)	1	Prostate(51;0.0112)																	---	---	---	---
VCL	7414	broad.mit.edu	37	10	75849850	75849850	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75849850C>T	uc001jwd.2	+	10	1340	c.1246C>T	c.(1246-1248)CGG>TGG	p.R416W	VCL_uc009xrr.2_Missense_Mutation_p.R165W|VCL_uc010qky.1_Missense_Mutation_p.R323W|VCL_uc001jwe.2_Missense_Mutation_p.R416W|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	416	N-terminal globular head.|3 X 112 AA tandem repeats.|2.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)																	---	---	---	---
VCL	7414	broad.mit.edu	37	10	75864999	75864999	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75864999C>T	uc001jwd.2	+	16	2416	c.2322C>T	c.(2320-2322)TCC>TCT	p.S774S	VCL_uc009xrr.2_Silent_p.S523S|VCL_uc010qky.1_Silent_p.S681S|VCL_uc001jwe.2_Silent_p.S774S|VCL_uc010qkz.1_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	vinculin isoform meta-VCL	774	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	kidney(4)|ovary(1)|central_nervous_system(1)	6	Prostate(51;0.0112)																	---	---	---	---
MYST4	23522	broad.mit.edu	37	10	76735912	76735912	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:76735912G>A	uc001jwn.1	+	8	2310	c.1817G>A	c.(1816-1818)TGG>TAG	p.W606*	MYST4_uc001jwm.1_Intron|MYST4_uc001jwo.1_Intron|MYST4_uc001jwp.1_Intron	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	MYST histone acetyltransferase (monocytic	606	Negatively regulates HAT activity.				histone H3 acetylation|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 factor binding|zinc ion binding			central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1)	16	all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964)							T	CREBBP	AML								---	---	---	---
DLG5	9231	broad.mit.edu	37	10	79576791	79576791	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:79576791G>A	uc001jzk.2	-	19	3918	c.3848C>T	c.(3847-3849)CCG>CTG	p.P1283L	DLG5_uc001jzi.2_Missense_Mutation_p.P38L|DLG5_uc001jzj.2_Missense_Mutation_p.P698L|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.P887L	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	discs large homolog 5	1283					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			ovary(5)|breast(3)	8	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)															---	---	---	---
PPIF	10105	broad.mit.edu	37	10	81113511	81113511	+	Silent	SNP	C	T	T	rs145071461		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:81113511C>T	uc001kai.2	+	6	622	c.537C>T	c.(535-537)GAC>GAT	p.D179D	PPIF_uc001kaj.2_Missense_Mutation_p.T154M	NM_005729	NP_005720	P30405	PPIF_HUMAN	peptidylprolyl isomerase F precursor	179	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			skin(1)	1	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)													---	---	---	---
MAT1A	4143	broad.mit.edu	37	10	82033595	82033595	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:82033595T>C	uc001kbw.2	-	9	1385	c.1130A>G	c.(1129-1131)TAC>TGC	p.Y377C		NM_000429	NP_000420	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	377					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity				0			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)													---	---	---	---
TSPAN14	81619	broad.mit.edu	37	10	82280575	82280575	+	3'UTR	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:82280575C>A	uc001kcj.3	+	9					TSPAN14_uc009xss.2_3'UTR|TSPAN14_uc001kci.3_3'UTR	NM_030927	NP_112189			tetraspanin 14 isoform 1							integral to membrane				ovary(1)|central_nervous_system(1)	2			Colorectal(32;0.229)															---	---	---	---
LRIT1	26103	broad.mit.edu	37	10	85997427	85997427	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:85997427G>A	uc001kcz.1	-	2	160	c.138C>T	c.(136-138)AAC>AAT	p.N46N		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	retina specific protein PAL	46	Lumenal (Potential).|LRRNT.					integral to endoplasmic reticulum membrane					0																		---	---	---	---
LIPF	8513	broad.mit.edu	37	10	90427430	90427430	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:90427430T>A	uc001kfg.1	+	3	376	c.210T>A	c.(208-210)AAT>AAA	p.N70K	LIPF_uc009xtk.2_Missense_Mutation_p.N70K|LIPF_uc001kfh.1_Missense_Mutation_p.N80K|LIPF_uc010qmt.1_Missense_Mutation_p.N80K|LIPF_uc010qmu.1_Missense_Mutation_p.N70K	NM_004190	NP_004181	P07098	LIPG_HUMAN	lipase, gastric precursor	70					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity				0		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)														---	---	---	---
MYOF	26509	broad.mit.edu	37	10	95126257	95126257	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95126257C>T	uc001kin.2	-	26	2768	c.2645G>A	c.(2644-2646)CGT>CAT	p.R882H	MYOF_uc001kio.2_Missense_Mutation_p.R869H|MYOF_uc009xue.2_RNA	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	myoferlin isoform a	882	Cytoplasmic (Potential).				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			ovary(3)|breast(1)	4																		---	---	---	---
CCNJ	54619	broad.mit.edu	37	10	97816658	97816658	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:97816658G>A	uc001klm.2	+	4	840	c.481G>A	c.(481-483)GAA>AAA	p.E161K	uc001klg.1_Intron|uc001klj.1_Intron|uc009xvb.1_Intron|CCNJ_uc010qoq.1_Missense_Mutation_p.E161K|CCNJ_uc001kln.2_Missense_Mutation_p.E161K	NM_019084	NP_061957	Q5T5M9	CCNJ_HUMAN	cyclin J isoform 2	161						nucleus				ovary(1)	1				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)														---	---	---	---
TLL2	7093	broad.mit.edu	37	10	98144338	98144338	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98144338G>A	uc001kml.1	-							NM_012465	NP_036597			tolloid-like 2 precursor						cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)														---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98287884	98287884	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:98287884C>T	uc001kmm.3	-	12	1662	c.1445G>A	c.(1444-1446)GGC>GAC	p.G482D	TM9SF3_uc010qot.1_Missense_Mutation_p.G482D	NM_020123	NP_064508	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3 precursor	482	Helical; (Potential).					integral to membrane	binding				0		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)														---	---	---	---
UBTD1	80019	broad.mit.edu	37	10	99329961	99329961	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99329961C>T	uc001knv.1	+	3	558	c.365C>T	c.(364-366)CCG>CTG	p.P122L	ANKRD2_uc001knw.2_5'Flank|ANKRD2_uc009xvu.2_5'Flank	NM_024954	NP_079230	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	122											0		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)														---	---	---	---
PI4K2A	55361	broad.mit.edu	37	10	99361607	99361607	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99361607C>T	uc010qoy.1	+						DHDPSL_uc001kny.2_Intron|DHDPSL_uc001knz.2_Intron	NM_018425	NP_060895			phosphatidylinositol 4-kinase type 2 alpha						phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			lung(1)|skin(1)	2		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)														---	---	---	---
CRTAC1	55118	broad.mit.edu	37	10	99677301	99677301	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:99677301G>A	uc001kou.1	-	5	1027	c.671C>T	c.(670-672)GCG>GTG	p.A224V	CRTAC1_uc001kov.2_Missense_Mutation_p.A213V|CRTAC1_uc001kot.1_Missense_Mutation_p.A14V	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1 precursor	224						proteinaceous extracellular matrix	calcium ion binding			ovary(4)|pancreas(1)	5		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)														---	---	---	---
PDZD7	79955	broad.mit.edu	37	10	102778061	102778061	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102778061C>T	uc001kso.1	-						PDZD7_uc001ksn.2_Intron	NM_024895	NP_079171			PDZ domain containing 7							cilium|nucleus	protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)														---	---	---	---
PDZD7	79955	broad.mit.edu	37	10	102782103	102782103	+	Silent	SNP	G	A	A	rs137967850	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102782103G>A	uc001kso.1	-	5	797	c.582C>T	c.(580-582)TGC>TGT	p.C194C	PDZD7_uc001ksn.2_Silent_p.C194C	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	194						cilium|nucleus	protein binding			ovary(1)|breast(1)|central_nervous_system(1)	3				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)														---	---	---	---
LBX1	10660	broad.mit.edu	37	10	102988373	102988373	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:102988373G>A	uc001ksx.2	-	1	345	c.200C>T	c.(199-201)GCG>GTG	p.A67V	uc010qpy.1_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	ladybird homeobox 1	67				LTPFSIEDILNKPSVRRSYSLCGAAHLLAAADKHAQGGLP -> YAVQHRGHPQQAVRAEKLLAAWGGAPAGRRGQARAGRL A (in Ref. 1; CAA62342).	muscle organ development		sequence-specific DNA binding				0		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)														---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919661	103919661	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103919661A>G	uc001kuo.2	+	8	1103	c.868A>G	c.(868-870)AGT>GGT	p.S290G	NOLC1_uc001kup.2_Missense_Mutation_p.S300G|NOLC1_uc001kuq.2_Missense_Mutation_p.S291G|NOLC1_uc009xxb.1_Missense_Mutation_p.S9G|NOLC1_uc001kur.2_Missense_Mutation_p.S9G	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	290	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)														---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103922020	103922020	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:103922020C>T	uc001kuo.2	+	13	2329	c.2094C>T	c.(2092-2094)AGC>AGT	p.S698S	NOLC1_uc001kup.2_Silent_p.S708S|NOLC1_uc001kuq.2_Silent_p.S699S|NOLC1_uc009xxb.1_Silent_p.S417S|NOLC1_uc001kur.2_Silent_p.S417S	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	698					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)														---	---	---	---
TRIM8	81603	broad.mit.edu	37	10	104416970	104416970	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104416970G>A	uc001kvz.2	+	6	1638	c.1515G>A	c.(1513-1515)CCG>CCA	p.P505P		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	tripartite motif-containing 8	505						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			ovary(1)	1		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)														---	---	---	---
PDCD11	22984	broad.mit.edu	37	10	105178301	105178301	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105178301C>T	uc001kwy.1	+	15	2103	c.2016C>T	c.(2014-2016)CAC>CAT	p.H672H		NM_014976	NP_055791	Q14690	RRP5_HUMAN	programmed cell death 11	672	S1 motif 7.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)														---	---	---	---
NEURL	9148	broad.mit.edu	37	10	105331561	105331561	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:105331561C>T	uc001kxh.2	+	3	1041	c.631C>T	c.(631-633)CGG>TGG	p.R211W		NM_004210	NP_004201	O76050	NEU1A_HUMAN	neuralized-like	211	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding				0				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)														---	---	---	---
NRAP	4892	broad.mit.edu	37	10	115350647	115350647	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115350647A>G	uc001laj.2	-	40	4810	c.4646T>C	c.(4645-4647)TTC>TCC	p.F1549S	NRAP_uc009xyb.2_Missense_Mutation_p.F302S|NRAP_uc001lak.2_Missense_Mutation_p.F1514S|NRAP_uc001lal.3_Missense_Mutation_p.F1549S	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1549	Nebulin 41.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)														---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123970690	123970690	+	Silent	SNP	C	T	T	rs148585687		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123970690C>T	uc001lfv.2	+	9	7110	c.6750C>T	c.(6748-6750)AGC>AGT	p.S2250S	TACC2_uc001lfw.2_Silent_p.S396S|TACC2_uc009xzx.2_Silent_p.S2205S|TACC2_uc010qtv.1_Silent_p.S2254S|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Silent_p.S328S|TACC2_uc001lga.2_Silent_p.S328S|TACC2_uc009xzy.2_Silent_p.S328S|TACC2_uc001lgb.2_Silent_p.S285S|TACC2_uc010qtw.1_Silent_p.S345S	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2250						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)																---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123970735	123970735	+	Silent	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123970735G>T	uc001lfv.2	+	9	7155	c.6795G>T	c.(6793-6795)CTG>CTT	p.L2265L	TACC2_uc001lfw.2_Silent_p.L411L|TACC2_uc009xzx.2_Silent_p.L2220L|TACC2_uc010qtv.1_Silent_p.L2269L|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Silent_p.L343L|TACC2_uc001lga.2_Silent_p.L343L|TACC2_uc009xzy.2_Silent_p.L343L|TACC2_uc001lgb.2_Silent_p.L300L|TACC2_uc010qtw.1_Silent_p.L360L	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2265						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)																---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123996964	123996964	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:123996964C>T	uc001lfv.2	+	17	8542	c.8182C>T	c.(8182-8184)CGC>TGC	p.R2728C	TACC2_uc001lfw.2_Missense_Mutation_p.R874C|TACC2_uc009xzx.2_Missense_Mutation_p.R2606C|TACC2_uc010qtv.1_Missense_Mutation_p.R2655C|TACC2_uc001lfx.2_Missense_Mutation_p.R355C|TACC2_uc001lfy.2_Missense_Mutation_p.R351C|TACC2_uc001lfz.2_Missense_Mutation_p.R806C|TACC2_uc001lga.2_Missense_Mutation_p.R776C|TACC2_uc009xzy.2_Missense_Mutation_p.R788C|TACC2_uc001lgb.2_Missense_Mutation_p.R686C	NM_206862	NP_996744	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing	2728						microtubule organizing center|nucleus	nuclear hormone receptor binding			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)																---	---	---	---
C10orf137	26098	broad.mit.edu	37	10	127442350	127442350	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:127442350T>C	uc001liq.1	+	24	3774	c.3481T>C	c.(3481-3483)TCT>CCT	p.S1161P	C10orf137_uc001lio.1_Missense_Mutation_p.S1127P|C10orf137_uc001lip.1_Missense_Mutation_p.S865P|C10orf137_uc001lis.1_Missense_Mutation_p.S487P|C10orf137_uc001lit.1_Missense_Mutation_p.S71P	NM_015608	NP_056423	Q3B7T1	EDRF1_HUMAN	erythroid differentiation-related factor 1	1161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			ovary(5)|large_intestine(3)|lung(2)	10		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)																---	---	---	---
MKI67	4288	broad.mit.edu	37	10	129910073	129910073	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:129910073A>T	uc001lke.2	-	11	2291	c.2096T>A	c.(2095-2097)GTG>GAG	p.V699E	MKI67_uc001lkf.2_Missense_Mutation_p.V339E|MKI67_uc009yav.1_Missense_Mutation_p.V274E|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	antigen identified by monoclonal antibody Ki-67	699					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			ovary(4)|central_nervous_system(2)|skin(1)	7		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)																---	---	---	---
LRRC27	80313	broad.mit.edu	37	10	134161674	134161674	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134161674C>T	uc010quw.1	+	6	935	c.740C>T	c.(739-741)GCG>GTG	p.A247V	LRRC27_uc001llf.2_Missense_Mutation_p.A247V|LRRC27_uc010quv.1_Missense_Mutation_p.A247V|LRRC27_uc001llg.2_RNA|LRRC27_uc001lli.2_Missense_Mutation_p.A247V|LRRC27_uc001llj.2_Missense_Mutation_p.A185V|LRRC27_uc001llk.3_Missense_Mutation_p.A120V	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27 isoform a	247										ovary(1)	1		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)														---	---	---	---
DEAF1	10522	broad.mit.edu	37	11	678719	678719	+	Silent	SNP	C	T	T	rs140525006		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:678719C>T	uc001lqq.1	-	9	1923	c.1230G>A	c.(1228-1230)GCG>GCA	p.A410A	DEAF1_uc009ycf.1_RNA	NM_021008	NP_066288	O75398	DEAF1_HUMAN	deformed epidermal autoregulatory factor 1	410	Pro-rich.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding				0		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)														---	---	---	---
RPLP2	6181	broad.mit.edu	37	11	812818	812818	+	Silent	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:812818A>C	uc001lrq.1	+	5	435	c.330A>C	c.(328-330)GGA>GGC	p.G110G	RPLP2_uc001lrr.1_Silent_p.G110G	NM_001004	NP_000995	P05387	RLA2_HUMAN	ribosomal protein P2	110					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|structural constituent of ribosome				0		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---
DNHD1	144132	broad.mit.edu	37	11	6591961	6591961	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:6591961C>T	uc001mdw.3	+	42	13783	c.13219C>T	c.(13219-13221)CGA>TGA	p.R4407*	DNHD1_uc001mea.3_Nonsense_Mutation_p.R676*|DNHD1_uc001meb.2_3'UTR|DNHD1_uc001mec.2_Nonsense_Mutation_p.R675*|DNHD1_uc010rao.1_Nonsense_Mutation_p.R665*|DNHD1_uc009yfg.2_Nonsense_Mutation_p.R32*	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1 isoform 1	4407					microtubule-based movement	dynein complex	microtubule motor activity			ovary(2)	2		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)														---	---	---	---
ASCL3	56676	broad.mit.edu	37	11	8959399	8959399	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:8959399G>A	uc001mhd.1	-	2	370	c.310C>T	c.(310-312)CAG>TAG	p.Q104*		NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN	ASCL3	103	Basic motif.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding				0				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)														---	---	---	---
ZNF143	7702	broad.mit.edu	37	11	9500019	9500019	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9500019G>A	uc001mhr.2	+	6	574	c.456G>A	c.(454-456)CCG>CCA	p.P152P	ZNF143_uc009yfu.2_Silent_p.P151P|ZNF143_uc010rby.1_Silent_p.P121P	NM_003442	NP_003433	P52747	ZN143_HUMAN	zinc finger protein 143	152					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding				0				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)														---	---	---	---
AMPD3	272	broad.mit.edu	37	11	10508902	10508902	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10508902C>T	uc001mio.1	+	6	1265	c.930C>T	c.(928-930)AAC>AAT	p.N310N	AMPD3_uc010rbz.1_Silent_p.N151N|AMPD3_uc001min.1_Silent_p.N319N|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Silent_p.N317N|AMPD3_uc009yfy.2_Silent_p.N310N	NM_001025389	NP_001020560	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3 isoform 1B	310			N -> K (in AMPDDE).		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)														---	---	---	---
BTBD10	84280	broad.mit.edu	37	11	13435172	13435172	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:13435172C>T	uc001mkz.2	-	6	970	c.713G>A	c.(712-714)CGT>CAT	p.R238H	BTBD10_uc010rcl.1_Missense_Mutation_p.R246H|BTBD10_uc001mla.2_Missense_Mutation_p.R222H|BTBD10_uc009ygn.2_RNA|BTBD10_uc010rcm.1_Missense_Mutation_p.R190H|BTBD10_uc010rcn.1_Missense_Mutation_p.R207H|BTBD10_uc009ygo.2_Missense_Mutation_p.R190H	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	K+ channel tetramerization protein	238	BTB.					nucleus					0				Epithelial(150;0.0214)														---	---	---	---
PDE3B	5140	broad.mit.edu	37	11	14889180	14889180	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:14889180T>C	uc001mln.2	+	15	3368	c.3015T>C	c.(3013-3015)GCT>GCC	p.A1005A	PDE3B_uc010rcr.1_Silent_p.A954A	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	phosphodiesterase 3B	1005	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding				0																		---	---	---	---
USH1C	10083	broad.mit.edu	37	11	17553007	17553007	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:17553007G>A	uc001mnf.2	-	3	296	c.187C>T	c.(187-189)CGG>TGG	p.R63W	USH1C_uc001mne.2_Missense_Mutation_p.R63W|USH1C_uc009yhb.2_Missense_Mutation_p.R63W|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.R27W	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	harmonin isoform a	63					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			ovary(1)	1																		---	---	---	---
C11orf41	25758	broad.mit.edu	37	11	33667548	33667548	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33667548G>A	uc001mup.3	+	16	4977	c.4853G>A	c.(4852-4854)CGC>CAC	p.R1618H		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	1612						integral to membrane				ovary(2)	2																		---	---	---	---
CD44	960	broad.mit.edu	37	11	35219744	35219744	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35219744T>G	uc001mvu.2	+	7	1307	c.873T>G	c.(871-873)AGT>AGG	p.S291R	CD44_uc001mvv.2_Missense_Mutation_p.S248R|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Intron|CD44_uc010ret.1_Intron|CD44_uc010reu.1_5'UTR	NM_000610	NP_000601	P16070	CD44_HUMAN	CD44 antigen isoform 1 precursor	291	Extracellular (Potential).|Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)													---	---	---	---
CD44	960	broad.mit.edu	37	11	35229754	35229754	+	Splice_Site	SNP	G	A	A	rs141953333		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:35229754G>A	uc001mvu.2	+	12	1950	c.1516_splice	c.e12+1	p.Q506_splice	CD44_uc001mvv.2_Splice_Site_p.Q463_splice|CD44_uc001mvw.2_Splice_Site_p.Q257_splice|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Splice_Site_p.Q70_splice|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Splice_Site_p.Q34_splice	NM_000610	NP_000601			CD44 antigen isoform 1 precursor						cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			pancreas(1)	1	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)													---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46818455	46818455	+	Silent	SNP	G	A	A	rs147577269	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:46818455G>A	uc001ndi.1	-	12	1484	c.1374C>T	c.(1372-1374)GCC>GCT	p.A458A	CKAP5_uc009ylg.1_Silent_p.A344A|CKAP5_uc001ndj.1_Silent_p.A458A	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	colonic and hepatic tumor over-expressed protein	458	HEAT 3.				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding			ovary(1)|skin(1)	2																		---	---	---	---
AGBL2	79841	broad.mit.edu	37	11	47732018	47732018	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47732018C>T	uc001ngg.2	-	3	243	c.143G>A	c.(142-144)CGG>CAG	p.R48Q	AGBL2_uc010rhq.1_Missense_Mutation_p.R48Q|AGBL2_uc001ngh.1_Missense_Mutation_p.R48Q	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	48					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2																		---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47801897	47801897	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47801897C>T	uc001ngm.2	-	35	4304	c.4219G>A	c.(4219-4221)GCA>ACA	p.A1407T	NUP160_uc009ylw.2_RNA	NM_015231	NP_056046	Q12769	NU160_HUMAN	nucleoporin 160kDa	1407					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7																		---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51411679	51411679	+	Silent	SNP	G	A	A	rs150805171	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:51411679G>A	uc001nhi.1	-	1	717	c.717C>T	c.(715-717)TCC>TCT	p.S239S		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A,	239	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3		all_lung(304;0.236)																---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579400	55579400	+	Missense_Mutation	SNP	C	T	T	rs144467940	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55579400C>T	uc001nhw.1	+	1	458	c.458C>T	c.(457-459)ACG>ATG	p.T153M		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	153	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)																---	---	---	---
OR5AP2	338675	broad.mit.edu	37	11	56409526	56409526	+	Silent	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56409526T>A	uc001njb.1	-	1	390	c.390A>T	c.(388-390)GCA>GCT	p.A130A		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	130	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
OR5AP2	338675	broad.mit.edu	37	11	56409551	56409551	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56409551G>C	uc001njb.1	-	1	365	c.365C>G	c.(364-366)GCC>GGC	p.A122G		NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP,	122	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---
APLNR	187	broad.mit.edu	37	11	57004212	57004212	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57004212C>T	uc001njo.2	-	1	716	c.267G>A	c.(265-267)ACG>ACA	p.T89T	APLNR_uc001njn.3_RNA	NM_005161	NP_005152	P35414	APJ_HUMAN	apelin receptor	89	Helical; Name=2; (Potential).					integral to plasma membrane	G-protein coupled receptor activity			lung(5)|ovary(1)	6																		---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57077112	57077112	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57077112C>T	uc001njr.2	-	5	3385	c.3073G>A	c.(3073-3075)GGG>AGG	p.G1025R	TNKS1BP1_uc001njs.2_Missense_Mutation_p.G1025R|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.G476R	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	tankyrase 1-binding protein 1	1025	Gly-rich.|Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			skin(1)	1		all_epithelial(135;0.21)																---	---	---	---
SLC43A3	29015	broad.mit.edu	37	11	57185284	57185284	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57185284C>T	uc001nkg.2	-	8	1018	c.608G>A	c.(607-609)CGC>CAC	p.R203H	PRG2_uc001nke.2_Missense_Mutation_p.R102H|SLC43A3_uc001nkh.2_Missense_Mutation_p.R203H|SLC43A3_uc010rjr.1_Missense_Mutation_p.R216H|SLC43A3_uc009yme.2_Missense_Mutation_p.R203H|SLC43A3_uc001nki.2_Missense_Mutation_p.R203H|SLC43A3_uc009ymf.1_Missense_Mutation_p.R203H|SLC43A3_uc010rjs.1_Missense_Mutation_p.R203H|SLC43A3_uc009ymg.1_Missense_Mutation_p.R216H	NM_014096	NP_054815	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	203	Helical; (Potential).				transmembrane transport	integral to membrane				central_nervous_system(1)	1																		---	---	---	---
SERPING1	710	broad.mit.edu	37	11	57373534	57373534	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57373534G>A	uc001nkp.1	+	5	928	c.737G>A	c.(736-738)AGC>AAC	p.S246N	SERPING1_uc001nkq.1_Missense_Mutation_p.S246N|SERPING1_uc010rju.1_Missense_Mutation_p.S194N|SERPING1_uc010rjv.1_Missense_Mutation_p.S251N|SERPING1_uc001nkr.1_Missense_Mutation_p.S246N|SERPING1_uc009ymi.1_Missense_Mutation_p.S246N|SERPING1_uc009ymj.1_Missense_Mutation_p.S246N|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_000053	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G, member 1	246					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)	1														Hereditary_Angioedema				---	---	---	---
CTNND1	1500	broad.mit.edu	37	11	57578863	57578863	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:57578863G>A	uc001nmc.3	+						CTNND1_uc001nlh.1_Intron|CTNND1_uc001nlu.3_Intron|CTNND1_uc001nlt.3_Intron|CTNND1_uc001nls.3_Intron|CTNND1_uc001nlw.3_Intron|CTNND1_uc001nmf.3_Intron|CTNND1_uc001nmd.3_Intron|CTNND1_uc001nlk.3_Intron|CTNND1_uc001nme.3_Intron|CTNND1_uc001nll.3_Intron|CTNND1_uc001nmg.3_Intron|CTNND1_uc001nlj.3_Intron|CTNND1_uc001nlr.3_Intron|CTNND1_uc001nlp.3_Intron|CTNND1_uc001nlx.3_Intron|CTNND1_uc001nlz.3_Intron|CTNND1_uc009ymn.2_Intron|CTNND1_uc001nlm.3_Intron|CTNND1_uc001nly.3_Intron|CTNND1_uc001nmb.3_Intron|CTNND1_uc001nma.3_Intron|CTNND1_uc001nmi.3_Intron|CTNND1_uc001nmh.3_Intron|CTNND1_uc001nlq.3_Intron|CTNND1_uc001nln.3_Intron|CTNND1_uc001nli.3_Intron|CTNND1_uc001nlo.3_Intron|CTNND1_uc001nlv.3_Intron	NM_001085458	NP_001078927			catenin, delta 1 isoform 1ABC						adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(4)|ovary(1)|kidney(1)	6		all_epithelial(135;0.155)																---	---	---	---
GLYATL2	219970	broad.mit.edu	37	11	58604560	58604560	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58604560G>A	uc001nnd.3	-	5	535	c.404C>T	c.(403-405)CCG>CTG	p.P135L	GLYATL2_uc009ymq.2_Missense_Mutation_p.P135L	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	135						mitochondrion	glycine N-acyltransferase activity			ovary(1)|skin(1)	2		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)													---	---	---	---
DTX4	23220	broad.mit.edu	37	11	58972233	58972233	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58972233G>A	uc001nns.2	+	9	1968	c.1711G>A	c.(1711-1713)GTC>ATC	p.V571I	DTX4_uc001nnr.2_Missense_Mutation_p.V465I	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	deltex 4 homolog	571					Notch signaling pathway	cytoplasm	zinc ion binding			lung(2)|central_nervous_system(1)	3		all_epithelial(135;0.125)																---	---	---	---
MS4A15	219995	broad.mit.edu	37	11	60540962	60540962	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60540962G>A	uc009ynf.1	+						MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_Intron|MS4A15_uc009yng.1_Intron	NM_001098835	NP_001092305			membrane-spanning 4-domains, subfamily A, member							integral to membrane	receptor activity			lung(1)	1																		---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61079550	61079550	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61079550C>T	uc001nrc.3	-	17	2302	c.2076G>A	c.(2074-2076)GCG>GCA	p.A692A	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Silent_p.A692A	NM_001923	NP_001914	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1	692	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			ovary(2)|lung(1)|central_nervous_system(1)	4													NER					---	---	---	---
C11orf66	220004	broad.mit.edu	37	11	61254449	61254449	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61254449C>T	uc001nru.1	+	10	989	c.864C>T	c.(862-864)AGC>AGT	p.S288S	C11orf66_uc009ynq.1_Silent_p.S268S	NM_145017	NP_659454	Q7Z5V6	CK066_HUMAN	IIIG9 protein	288										ovary(1)	1																		---	---	---	---
FADS3	3995	broad.mit.edu	37	11	61646251	61646251	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61646251G>A	uc001nsm.2	-	4	744	c.591C>T	c.(589-591)CAC>CAT	p.H197H	FADS3_uc001nsn.2_Silent_p.H73H	NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	197	Cytoplasmic (Potential).				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			ovary(1)|pancreas(1)	2																		---	---	---	---
SCGB1A1	7356	broad.mit.edu	37	11	62186576	62186576	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62186576C>T	uc001ntj.2	+	1	54	c.9C>T	c.(7-9)CTC>CTT	p.L3L		NM_003357	NP_003348	P11684	UTER_HUMAN	secretoglobin, family 1A, member 1	3					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity				0																		---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62292852	62292852	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62292852C>T	uc001ntl.2	-	5	9337	c.9037G>A	c.(9037-9039)GTT>ATT	p.V3013I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	3013					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)																---	---	---	---
AHNAK	79026	broad.mit.edu	37	11	62301276	62301276	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62301276C>T	uc001ntl.2	-	5	913	c.613G>A	c.(613-615)GTG>ATG	p.V205M	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	205					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)																---	---	---	---
EML3	256364	broad.mit.edu	37	11	62376423	62376423	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62376423G>A	uc001ntu.1	-						EML3_uc001ntr.1_Intron|EML3_uc001nts.1_Intron|EML3_uc001ntt.1_Intron|EML3_uc010rly.1_Intron|EML3_uc009yny.1_Intron	NM_153265	NP_694997			echinoderm microtubule associated protein like							cytoplasm|microtubule	protein binding			ovary(1)	1																		---	---	---	---
LRRN4CL	221091	broad.mit.edu	37	11	62455516	62455516	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62455516G>A	uc001nun.2	-	2	772	c.465C>T	c.(463-465)GCC>GCT	p.A155A		NM_203422	NP_981967	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like precursor	155	Fibronectin type-III.|Extracellular (Potential).					integral to membrane					0																		---	---	---	---
RTN3	10313	broad.mit.edu	37	11	63517468	63517468	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63517468G>A	uc001nxq.2	+	4	2723	c.2536G>A	c.(2536-2538)GAT>AAT	p.D846N	RTN3_uc001nxo.2_Missense_Mutation_p.D50N|RTN3_uc001nxm.2_Missense_Mutation_p.D69N|RTN3_uc001nxn.2_Missense_Mutation_p.D827N|RTN3_uc001nxp.2_Missense_Mutation_p.D50N|RTN3_uc009yov.2_Missense_Mutation_p.D734N|RTN3_uc010rmt.1_RNA|RTN3_uc010rmu.1_Missense_Mutation_p.D50N	NM_201428	NP_958831	O95197	RTN3_HUMAN	reticulon 3 isoform b	846	Reticulon.				apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				ovary(1)	1																		---	---	---	---
C11orf84	144097	broad.mit.edu	37	11	63586362	63586362	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63586362C>T	uc001nxt.2	+	5	1058	c.822C>T	c.(820-822)TTC>TTT	p.F274F		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	hypothetical protein LOC144097	274											0																		---	---	---	---
STIP1	10963	broad.mit.edu	37	11	63965439	63965439	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:63965439G>A	uc001nyk.1	+	8	1163	c.1016G>A	c.(1015-1017)TGC>TAC	p.C339Y	STIP1_uc010rnb.1_Missense_Mutation_p.C315Y	NM_006819	NP_006810	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	339					axon guidance|response to stress	Golgi apparatus|nucleus				ovary(2)|liver(1)	3																		---	---	---	---
GPR137	56834	broad.mit.edu	37	11	64056781	64056781	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64056781C>T	uc001nzg.1	+	8	1506	c.1198C>T	c.(1198-1200)CTC>TTC	p.L400F	GPR137_uc010rni.1_Missense_Mutation_p.L458F|GPR137_uc001nzf.2_3'UTR|GPR137_uc001nzi.2_3'UTR|GPR137_uc010rnj.1_3'UTR|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.3_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_020155	NP_064540	Q96N19	G137A_HUMAN	G protein-coupled receptor 137	400	Cytoplasmic (Potential).					integral to membrane				central_nervous_system(1)	1																		---	---	---	---
RPS6KA4	8986	broad.mit.edu	37	11	64129375	64129375	+	Silent	SNP	G	A	A	rs150496845		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64129375G>A	uc001oae.2	+	8	890	c.807G>A	c.(805-807)GCG>GCA	p.A269A	RPS6KA4_uc001oad.2_Silent_p.A269A|RPS6KA4_uc010rnl.1_Silent_p.A206A|RPS6KA4_uc001oaf.2_Silent_p.A269A|RPS6KA4_uc009ypp.2_Silent_p.A269A	NM_003942	NP_003933	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	269	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			lung(3)|ovary(1)|breast(1)	5																		---	---	---	---
RPS6KA4	8986	broad.mit.edu	37	11	64138137	64138137	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64138137C>T	uc001oae.2	+	16	2143	c.2060C>T	c.(2059-2061)ACG>ATG	p.T687M	RPS6KA4_uc001oad.2_Missense_Mutation_p.T681M|RPS6KA4_uc010rnl.1_Missense_Mutation_p.T624M|RPS6KA4_uc001oaf.2_Missense_Mutation_p.T680M|RPS6KA4_uc009ypp.2_Missense_Mutation_p.T439M	NM_003942	NP_003933	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide	687					axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			lung(3)|ovary(1)|breast(1)	5																		---	---	---	---
RASGRP2	10235	broad.mit.edu	37	11	64507150	64507150	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64507150C>T	uc009ypu.2	-	7	881	c.654G>A	c.(652-654)CCG>CCA	p.P218P	RASGRP2_uc001oat.2_Silent_p.P120P|RASGRP2_uc001oau.2_Silent_p.P73P|RASGRP2_uc009ypv.2_Silent_p.P218P|RASGRP2_uc009ypw.2_Silent_p.P218P	NM_001098671	NP_001092141	Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2	218	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity				0																		---	---	---	---
PYGM	5837	broad.mit.edu	37	11	64518061	64518061	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64518061G>A	uc001oax.3	-						PYGM_uc001oay.3_Intron	NM_005609	NP_005600			muscle glycogen phosphorylase isoform 1						glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)													---	---	---	---
SF1	7536	broad.mit.edu	37	11	64534544	64534544	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64534544C>T	uc001obb.1	-	12	1787	c.1410G>A	c.(1408-1410)ATG>ATA	p.M470I	SF1_uc010rnm.1_Missense_Mutation_p.M162I|SF1_uc010rnn.1_Missense_Mutation_p.M444I|SF1_uc001oaz.1_Missense_Mutation_p.M595I|SF1_uc001oba.1_Missense_Mutation_p.M470I|SF1_uc001obc.1_Missense_Mutation_p.M470I|SF1_uc001obd.1_Missense_Mutation_p.A472T|SF1_uc001obe.1_Missense_Mutation_p.A357T|SF1_uc010rno.1_Missense_Mutation_p.M355I	NM_004630	NP_004621	Q15637	SF01_HUMAN	splicing factor 1 isoform 1	470	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			ovary(1)|breast(1)|skin(1)	3																		---	---	---	---
CDC42BPG	55561	broad.mit.edu	37	11	64597185	64597185	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64597185G>A	uc001obs.3	-	30	3725	c.3725C>T	c.(3724-3726)GCC>GTC	p.A1242V		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1242	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4																		---	---	---	---
CDC42BPG	55561	broad.mit.edu	37	11	64597675	64597675	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64597675G>A	uc001obs.3	-	29	3358	c.3358C>T	c.(3358-3360)CGC>TGC	p.R1120C		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1120	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4																		---	---	---	---
CDC42BPG	55561	broad.mit.edu	37	11	64602006	64602006	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64602006G>A	uc001obs.3	-	19	2219	c.2219C>T	c.(2218-2220)TCG>TTG	p.S740L		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	740	Potential.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			lung(3)|central_nervous_system(1)	4																		---	---	---	---
EHD1	10938	broad.mit.edu	37	11	64622105	64622105	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64622105G>A	uc001obu.1	-	5	1560	c.1305C>T	c.(1303-1305)GAC>GAT	p.D435D	EHD1_uc001obt.1_Silent_p.D118D|EHD1_uc001obv.1_Silent_p.D435D|EHD1_uc010rnq.1_Silent_p.D449D	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	435				D -> H (in Ref. 1; AAB81204).	blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding				0																		---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64662837	64662837	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64662837C>T	uc001obx.2	-	40	5620	c.5505G>A	c.(5503-5505)GCG>GCA	p.A1835A	uc009ypx.2_5'Flank|ATG2A_uc001obw.2_Silent_p.A600A	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1835							protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
ATG2A	23130	broad.mit.edu	37	11	64665443	64665443	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64665443C>T	uc001obx.2	-	35	4977	c.4862G>A	c.(4861-4863)CGC>CAC	p.R1621H	ATG2A_uc001obw.2_Missense_Mutation_p.R386H	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1621							protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
TM7SF2	7108	broad.mit.edu	37	11	64883015	64883015	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64883015C>T	uc001oct.2	+	9	1188	c.1041C>T	c.(1039-1041)CGC>CGT	p.R347R	TM7SF2_uc010rny.1_Silent_p.R231R|TM7SF2_uc001ocu.2_Silent_p.R320R|TM7SF2_uc001ocv.2_Silent_p.R368R|uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	347					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			ovary(1)	1																		---	---	---	---
CAPN1	823	broad.mit.edu	37	11	64953530	64953530	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64953530C>T	uc009yqd.1	+						CAPN1_uc001odf.1_Intron|CAPN1_uc001odg.1_Intron|CAPN1_uc010roa.1_Intron	NM_005186	NP_005177			calpain 1, large subunit						positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			ovary(1)	1		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)														---	---	---	---
EHBP1L1	254102	broad.mit.edu	37	11	65347604	65347604	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65347604G>A	uc001oeo.3	+	5	630	c.365G>A	c.(364-366)CGC>CAC	p.R122H	EHBP1L1_uc001oep.1_5'Flank	NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	tangerin	122										central_nervous_system(1)	1																		---	---	---	---
SIPA1	6494	broad.mit.edu	37	11	65408617	65408617	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65408617C>T	uc001ofb.2	+	2	392	c.225C>T	c.(223-225)CAC>CAT	p.H75H	SIPA1_uc010rom.1_Silent_p.H75H|SIPA1_uc001ofd.2_Silent_p.H75H	NM_006747	NP_006738	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated protein	75					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																		---	---	---	---
KAT5	10524	broad.mit.edu	37	11	65482089	65482089	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65482089C>T	uc001ofi.2	+	8	965	c.715C>T	c.(715-717)CGG>TGG	p.R239W	KAT5_uc001ofj.2_Missense_Mutation_p.R187W|KAT5_uc001ofk.2_Missense_Mutation_p.R272W|KAT5_uc010roo.1_Missense_Mutation_p.R220W|KAT5_uc001ofl.2_Missense_Mutation_p.R28W	NM_006388	NP_006379	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5 isoform 2	239					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity				0																		---	---	---	---
SART1	9092	broad.mit.edu	37	11	65746292	65746292	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65746292C>T	uc001ogl.2	+	19	2383	c.2291C>T	c.(2290-2292)ACG>ATG	p.T764M		NM_005146	NP_005137	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T	764					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				ovary(1)	1																		---	---	---	---
KLC2	64837	broad.mit.edu	37	11	66032646	66032646	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66032646G>A	uc010rov.1	+	11	1517	c.1274G>A	c.(1273-1275)CGC>CAC	p.R425H	KLC2_uc010row.1_Missense_Mutation_p.R425H|KLC2_uc009yra.2_Intron|KLC2_uc001ohb.2_Missense_Mutation_p.R425H|KLC2_uc010rox.1_Missense_Mutation_p.R348H|KLC2_uc001ohc.2_Missense_Mutation_p.R425H|KLC2_uc001ohd.2_Missense_Mutation_p.R348H|KLC2_uc001ohe.1_Missense_Mutation_p.R286H	NM_001134775	NP_001128247	Q9H0B6	KLC2_HUMAN	kinesin light chain 2 isoform 1	425					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding				0																OREG0021098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PELI3	246330	broad.mit.edu	37	11	66243148	66243148	+	Missense_Mutation	SNP	C	T	T	rs145732233	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66243148C>T	uc001oic.3	+	8	1084	c.920C>T	c.(919-921)GCG>GTG	p.A307V	PELI3_uc001oid.3_Missense_Mutation_p.A283V|PELI3_uc001oie.3_Missense_Mutation_p.A158V	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	307						cytosol	protein binding			ovary(1)	1																		---	---	---	---
PELI3	246330	broad.mit.edu	37	11	66243489	66243489	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66243489G>A	uc001oic.3	+	8	1425	c.1261G>A	c.(1261-1263)GTC>ATC	p.V421I	PELI3_uc001oid.3_Missense_Mutation_p.V397I|PELI3_uc001oie.3_Missense_Mutation_p.V272I	NM_145065	NP_659502	Q8N2H9	PELI3_HUMAN	pellino 3 alpha isoform 1	421						cytosol	protein binding			ovary(1)	1																		---	---	---	---
PC	5091	broad.mit.edu	37	11	66620737	66620737	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66620737G>A	uc001ojn.1	-	11	1535	c.1486C>T	c.(1486-1488)CGG>TGG	p.R496W	PC_uc001ojo.1_Missense_Mutation_p.R496W|PC_uc001ojp.1_Missense_Mutation_p.R496W	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	496					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)													---	---	---	---
PC	5091	broad.mit.edu	37	11	66638798	66638798	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66638798C>T	uc001ojn.1	-	4	524	c.475G>A	c.(475-477)GCC>ACC	p.A159T	PC_uc001ojo.1_Missense_Mutation_p.A159T|PC_uc001ojp.1_Missense_Mutation_p.A159T	NM_022172	NP_071504	P11498	PYC_HUMAN	pyruvate carboxylase precursor	159	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			ovary(2)|lung(1)|kidney(1)	4		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)													---	---	---	---
ADRBK1	156	broad.mit.edu	37	11	67049844	67049844	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67049844C>T	uc009yrn.1	+						ADRBK1_uc009yrm.1_Intron	NM_001619	NP_001610			beta-adrenergic receptor kinase 1						activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			large_intestine(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)													---	---	---	---
ANKRD13D	338692	broad.mit.edu	37	11	67059125	67059125	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67059125G>T	uc001okc.1	+	6	699	c.188G>T	c.(187-189)CGG>CTG	p.R63L	ANKRD13D_uc001okd.1_Missense_Mutation_p.R150L|ANKRD13D_uc001oke.1_Missense_Mutation_p.R63L	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	63										ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)															---	---	---	---
RPS6KB2	6199	broad.mit.edu	37	11	67200859	67200859	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67200859A>G	uc001old.2	+	10	929	c.847A>G	c.(847-849)AGG>GGG	p.R283G	RPS6KB2_uc001olf.2_Missense_Mutation_p.R83G|RPS6KB2_uc001olg.2_Missense_Mutation_p.R283G|RPS6KB2_uc009yrq.2_Missense_Mutation_p.R83G|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_Intron|RPS6KB2_uc009yrr.2_Missense_Mutation_p.R114G	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	283	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)															---	---	---	---
RPS6KB2	6199	broad.mit.edu	37	11	67200902	67200902	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67200902G>A	uc001old.2	+	10	972	c.890G>A	c.(889-891)CGG>CAG	p.R297Q	RPS6KB2_uc001olf.2_Missense_Mutation_p.R97Q|RPS6KB2_uc001olg.2_Missense_Mutation_p.R297Q|RPS6KB2_uc009yrq.2_Missense_Mutation_p.R97Q|RPS6KB2_uc001ole.2_RNA|RPS6KB2_uc001olh.2_Intron|RPS6KB2_uc009yrr.2_Missense_Mutation_p.R128Q	NM_003952	NP_003943	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide	297	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			ovary(2)|central_nervous_system(2)|stomach(1)|lung(1)|salivary_gland(1)	7			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)															---	---	---	---
GSTP1	2950	broad.mit.edu	37	11	67353933	67353933	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67353933C>T	uc001omf.2	+	7	767	c.518C>T	c.(517-519)GCG>GTG	p.A173V	GSTP1_uc001omg.1_Missense_Mutation_p.A154V	NM_000852	NP_000843	P09211	GSTP1_HUMAN	glutathione transferase	173	GST C-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding			ovary(1)	1					Ethacrynic acid(DB00903)|Glutathione(DB00143)													---	---	---	---
LRP5	4041	broad.mit.edu	37	11	68177535	68177535	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68177535G>A	uc001ont.2	+	10	2320	c.2245G>A	c.(2245-2247)GGG>AGG	p.G749R	LRP5_uc009ysg.2_Missense_Mutation_p.G159R	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	749	LDL-receptor class B 12.|Beta-propeller 3.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7																		---	---	---	---
LRP5	4041	broad.mit.edu	37	11	68183972	68183972	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68183972C>T	uc001ont.2	+	13	3079	c.3004C>T	c.(3004-3006)CGA>TGA	p.R1002*	LRP5_uc009ysg.2_Nonsense_Mutation_p.R412*	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1002	Beta-propeller 4.|LDL-receptor class B 16.|Extracellular (Potential).				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7																		---	---	---	---
LRP5	4041	broad.mit.edu	37	11	68216420	68216420	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68216420C>A	uc001ont.2	+	23	4805	c.4730C>A	c.(4729-4731)CCC>CAC	p.P1577H	LRP5_uc009ysg.2_Missense_Mutation_p.P987H	NM_002335	NP_002326	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein	1577	PPPSP motif C.|Cytoplasmic (Potential).|Pro-rich.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7																		---	---	---	---
MTL5	9633	broad.mit.edu	37	11	68517738	68517738	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68517738C>T	uc001ooc.2	-	2	531	c.391G>A	c.(391-393)GCG>ACG	p.A131T	MTL5_uc001ood.1_Missense_Mutation_p.A131T|MTL5_uc009ysi.1_Missense_Mutation_p.A131T|MTL5_uc001ooe.2_Missense_Mutation_p.A131T	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific isoform	131					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			ovary(2)|breast(1)	3	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)															---	---	---	---
ANO1	55107	broad.mit.edu	37	11	69951904	69951904	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:69951904G>A	uc001opj.2	+						ANO1_uc001opk.1_Intron|ANO1_uc001opl.1_Intron|ANO1_uc010rqk.1_5'Flank	NM_018043	NP_060513			anoctamin 1, calcium activated chloride channel						multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			ovary(1)|pancreas(1)	2																		---	---	---	---
CTTN	2017	broad.mit.edu	37	11	70279830	70279830	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70279830C>T	uc001opv.3	+						CTTN_uc001opu.2_Intron|CTTN_uc001opw.3_Intron|CTTN_uc010rqm.1_Intron|CTTN_uc001opx.2_Intron	NM_005231	NP_005222			cortactin isoform a							cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)														---	---	---	---
CTTN	2017	broad.mit.edu	37	11	70281703	70281703	+	3'UTR	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70281703G>A	uc001opv.3	+	18					CTTN_uc001opu.2_Missense_Mutation_p.R544Q|CTTN_uc001opw.3_3'UTR|CTTN_uc010rqm.1_Missense_Mutation_p.R265Q|CTTN_uc001opx.2_3'UTR	NM_005231	NP_005222			cortactin isoform a							cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)														---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70331846	70331846	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70331846T>C	uc001oqc.2	-	21	4630	c.4552A>G	c.(4552-4554)ACC>GCC	p.T1518A	SHANK2_uc010rqn.1_Missense_Mutation_p.T930A|SHANK2_uc001opz.2_Missense_Mutation_p.T923A|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1139					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)															---	---	---	---
SHANK2	22941	broad.mit.edu	37	11	70332491	70332491	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70332491T>C	uc001oqc.2	-	21	3985	c.3907A>G	c.(3907-3909)ATG>GTG	p.M1303V	SHANK2_uc010rqn.1_Missense_Mutation_p.M715V|SHANK2_uc001opz.2_Missense_Mutation_p.M708V|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	924					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)															---	---	---	---
FOLR2	2350	broad.mit.edu	37	11	71929783	71929783	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71929783G>A	uc009ytd.2	+						FOLR2_uc009yte.2_Intron|FOLR2_uc001ose.3_Intron|FOLR2_uc009ytf.2_Intron	NM_001113534	NP_001107006			folate receptor 2 precursor						folic acid transport	anchored to membrane|extracellular region|membrane fraction|plasma membrane	folic acid binding|receptor activity			breast(2)|ovary(1)	3					Folic Acid(DB00158)													---	---	---	---
STARD10	10809	broad.mit.edu	37	11	72470300	72470300	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:72470300C>T	uc001osy.2	-	3	625	c.334G>A	c.(334-336)GCT>ACT	p.A112T	ARAP1_uc001osv.2_Intron|STARD10_uc001osz.3_Missense_Mutation_p.A112T|STARD10_uc001ota.2_Missense_Mutation_p.A66T|STARD10_uc001otb.2_Missense_Mutation_p.A112T	NM_006645	NP_006636	Q9Y365	PCTL_HUMAN	START domain containing 10	112	START.										0			BRCA - Breast invasive adenocarcinoma(5;7.08e-07)															---	---	---	---
ARHGEF17	9828	broad.mit.edu	37	11	73021101	73021101	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:73021101C>T	uc001otu.2	+	1	1439	c.1418C>T	c.(1417-1419)ACG>ATG	p.T473M		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	473					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																		---	---	---	---
TMEM135	65084	broad.mit.edu	37	11	87006867	87006867	+	Splice_Site	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:87006867T>C	uc001pch.2	+	7	574	c.551_splice	c.e7+2	p.R184_splice	TMEM135_uc010rtt.1_Splice_Site_p.R45_splice|TMEM135_uc001pci.2_Splice_Site_p.R162_splice	NM_022918	NP_075069			transmembrane protein 135							integral to membrane					0		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92534487	92534487	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:92534487C>T	uc001pdj.3	+	9	8325	c.8308C>T	c.(8308-8310)CGC>TGC	p.R2770C		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	FAT tumor suppressor homolog 3	2770	Extracellular (Potential).|Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)	5		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)													TCGA Ovarian(4;0.039)			---	---	---	---
GPR83	10888	broad.mit.edu	37	11	94113925	94113925	+	Missense_Mutation	SNP	C	T	T	rs149566608	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94113925C>T	uc001pet.2	-	4	834	c.662G>A	c.(661-663)CGC>CAC	p.R221H		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83 precursor	221	Extracellular (Potential).					integral to membrane|plasma membrane	neuropeptide Y receptor activity			central_nervous_system(2)|ovary(1)	3		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)																---	---	---	---
KDM4D	55693	broad.mit.edu	37	11	94731569	94731569	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:94731569G>A	uc001pfe.2	+	3	1865	c.1033G>A	c.(1033-1035)GTG>ATG	p.V345M		NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	jumonji domain containing 2D	345					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen				0																		---	---	---	---
PGR	5241	broad.mit.edu	37	11	100999400	100999400	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:100999400G>A	uc001pgh.2	-	1	1145	c.402C>T	c.(400-402)TGC>TGT	p.C134C	PGR_uc001pgi.2_Silent_p.C134C|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	progesterone receptor	134	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)													---	---	---	---
BIRC3	330	broad.mit.edu	37	11	102195710	102195710	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102195710T>C	uc001pgx.2	+	3	692	c.470T>C	c.(469-471)TTG>TCG	p.L157S		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	baculoviral IAP repeat-containing protein 3	157					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(3)|skin(1)	4	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)				T	MALT1	MALT								---	---	---	---
MMP10	4319	broad.mit.edu	37	11	102642733	102642733	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102642733G>A	uc001phg.1	-							NM_002425	NP_002416			matrix metalloproteinase 10 preproprotein						collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)														---	---	---	---
MMP10	4319	broad.mit.edu	37	11	102650238	102650238	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102650238T>C	uc001phg.1	-	2	366	c.344A>G	c.(343-345)TAC>TGC	p.Y115C		NM_002425	NP_002416	P09238	MMP10_HUMAN	matrix metalloproteinase 10 preproprotein	115					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			kidney(1)|lung(1)|breast(1)|central_nervous_system(1)	4	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)														---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102743616	102743616	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102743616C>A	uc001phk.2	-	2	374	c.329G>T	c.(328-330)AGG>ATG	p.R110M		NM_002426	NP_002417	P39900	MMP12_HUMAN	matrix metalloproteinase 12 preproprotein	110					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding				0		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)													---	---	---	---
DDI1	414301	broad.mit.edu	37	11	103908686	103908686	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103908686C>T	uc001phr.2	+	1	1379	c.1136C>T	c.(1135-1137)TCT>TTT	p.S379F	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	379					proteolysis		aspartic-type endopeptidase activity			large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)														---	---	---	---
ELMOD1	55531	broad.mit.edu	37	11	107518326	107518326	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:107518326C>T	uc010rvs.1	+	7	957	c.553C>T	c.(553-555)CAG>TAG	p.Q185*	ELMOD1_uc001pjm.2_Nonsense_Mutation_p.Q185*|ELMOD1_uc010rvt.1_Nonsense_Mutation_p.Q179*	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1 isoform 1	185	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)														---	---	---	---
ELMOD1	55531	broad.mit.edu	37	11	107535878	107535878	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:107535878G>A	uc010rvs.1	+	12	1364	c.960G>A	c.(958-960)GCG>GCA	p.A320A	ELMOD1_uc001pjm.2_Silent_p.A312A|ELMOD1_uc010rvt.1_Silent_p.A314A	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1 isoform 1	320					phagocytosis	cytoskeleton	GTPase activator activity				0		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)														---	---	---	---
PPP2R1B	5519	broad.mit.edu	37	11	111612776	111612776	+	Splice_Site	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111612776C>A	uc001plx.1	-	14	1873	c.1789_splice	c.e14+1	p.V597_splice	PPP2R1B_uc001plw.1_Splice_Site_p.V597_splice|PPP2R1B_uc010rwi.1_Splice_Site_p.V533_splice|PPP2R1B_uc010rwj.1_Splice_Site_p.V436_splice|PPP2R1B_uc010rwk.1_Splice_Site_p.V552_splice|PPP2R1B_uc010rwl.1_Splice_Site_p.V470_splice	NM_002716	NP_002707			beta isoform of regulatory subunit A, protein								protein binding				0		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)														---	---	---	---
BCO2	83875	broad.mit.edu	37	11	112050109	112050109	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:112050109G>A	uc001pnf.2	+	2	314	c.197G>A	c.(196-198)CGG>CAG	p.R66Q	BCO2_uc001pne.1_Intron|BCO2_uc001png.2_Missense_Mutation_p.R66Q|BCO2_uc001pnh.2_Missense_Mutation_p.R32Q|BCO2_uc010rwt.1_Intron|BCO2_uc009yyn.2_Missense_Mutation_p.R32Q|BCO2_uc001pni.2_Missense_Mutation_p.R32Q	NM_031938	NP_114144	Q9BYV7	BCDO2_HUMAN	beta-carotene dioxygenase 2 isoform a	66					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																		---	---	---	---
APOA5	116519	broad.mit.edu	37	11	116661100	116661100	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:116661100C>T	uc001ppr.2	-	3	853	c.845G>A	c.(844-846)CGC>CAC	p.R282H	ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.R282H|APOA5_uc009yzf.2_Missense_Mutation_p.R282H|APOA5_uc009yzg.2_Missense_Mutation_p.R308H	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN	apolipoprotein AV precursor	282					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding				0	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)														---	---	---	---
RNF214	257160	broad.mit.edu	37	11	117110519	117110519	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117110519T>C	uc001pqt.2	+	4	666	c.621T>C	c.(619-621)ACT>ACC	p.T207T	RNF214_uc001pqu.2_Silent_p.T207T|RNF214_uc010rxf.1_Silent_p.T52T	NM_207343	NP_997226	Q8ND24	RN214_HUMAN	ring finger protein 214	207							zinc ion binding				0	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)														---	---	---	---
MPZL2	10205	broad.mit.edu	37	11	118130803	118130803	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118130803C>T	uc001psn.2	-	4	691	c.550G>A	c.(550-552)GCC>ACC	p.A184T	MPZL2_uc001pso.2_Missense_Mutation_p.A184T|MPZL2_uc001psp.1_Missense_Mutation_p.A184T	NM_005797	NP_005788	O60487	MPZL2_HUMAN	myelin protein zero-like 2 precursor	184	Cytoplasmic (Potential).				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				skin(1)	1	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;3.04e-05)														---	---	---	---
ARCN1	372	broad.mit.edu	37	11	118454555	118454555	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118454555G>A	uc001ptq.2	+	4	640	c.479G>A	c.(478-480)CGT>CAT	p.R160H	ARCN1_uc009zah.2_Intron|ARCN1_uc010ryg.1_Missense_Mutation_p.R72H|ARCN1_uc009zag.2_Missense_Mutation_p.R201H	NM_001655	NP_001646	P48444	COPD_HUMAN	archain isoform 1	160					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)														---	---	---	---
HYOU1	10525	broad.mit.edu	37	11	118923438	118923438	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118923438G>A	uc001puu.2	-	9	1091	c.898C>T	c.(898-900)CGG>TGG	p.R300W	HYOU1_uc001put.2_Missense_Mutation_p.R265W|HYOU1_uc010ryu.1_Missense_Mutation_p.R320W|HYOU1_uc010ryv.1_Missense_Mutation_p.R189W|HYOU1_uc001pux.3_Missense_Mutation_p.R300W|HYOU1_uc010ryw.1_RNA|HYOU1_uc001puw.1_Missense_Mutation_p.R300W	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1 precursor	300						endoplasmic reticulum lumen	ATP binding|protein binding				0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)														---	---	---	---
VPS11	55823	broad.mit.edu	37	11	118942339	118942339	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118942339G>A	uc010ryx.1	+	6	712	c.670G>A	c.(670-672)GTG>ATG	p.V224M	VPS11_uc010ryy.1_Missense_Mutation_p.V70M	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11	224					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			ovary(2)|central_nervous_system(1)	3	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)														---	---	---	---
HMBS	3145	broad.mit.edu	37	11	118963179	118963179	+	Silent	SNP	C	T	T	rs114025170	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118963179C>T	uc001puz.1	+	11	874	c.717C>T	c.(715-717)CAC>CAT	p.H239H	HMBS_uc009zao.1_3'UTR|HMBS_uc001pvc.1_Silent_p.H184H|HMBS_uc009zap.1_Silent_p.H222H|HMBS_uc001pva.1_Intron|HMBS_uc001pvb.1_Silent_p.H208H|HMBS_uc001pvd.1_Silent_p.H222H|HMBS_uc001pve.1_Intron|HMBS_uc001pvf.1_Silent_p.H222H	NM_000190	NP_000181	P08397	HEM3_HUMAN	hydroxymethylbilane synthase isoform 1	239					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity				0	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)										Porphyria_Acute_Intermittent				---	---	---	---
PDZD3	79849	broad.mit.edu	37	11	119058109	119058109	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119058109G>A	uc001pwb.2	+	3	1183	c.659G>A	c.(658-660)CGG>CAG	p.R220Q	PDZD3_uc001pvy.2_Missense_Mutation_p.R154Q|PDZD3_uc001pvz.2_Missense_Mutation_p.R154Q|PDZD3_uc010rzd.1_Missense_Mutation_p.R141Q|PDZD3_uc001pwa.2_5'UTR			Q86UT5	NHRF4_HUMAN	RecName: Full=Na(+)/H(+) exchange regulatory cofactor NHE-RF4;          Short=NHERF-4; AltName: Full=PDZ domain-containing protein 3; AltName: Full=PDZ domain-containing protein 2; AltName: Full=Intestinal and kidney-enriched PDZ protein; AltName: Full=Sodium-hydrogen exchanger regulatory factor 4;	220					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)	1	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)														---	---	---	---
PVRL1	5818	broad.mit.edu	37	11	119549159	119549159	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:119549159G>A	uc001pwv.2	-	2	568	c.396C>T	c.(394-396)GGC>GGT	p.G132G	PVRL1_uc001pwu.1_Silent_p.G132G|PVRL1_uc001pww.2_Silent_p.G132G	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 isoform 1	132	Extracellular (Potential).|Ig-like V-type.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity				0		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)														---	---	---	---
TMEM136	219902	broad.mit.edu	37	11	120200762	120200762	+	Silent	SNP	C	T	T	rs111667856		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120200762C>T	uc001pxh.1	+	3	339	c.276C>T	c.(274-276)TGC>TGT	p.C92C	TMEM136_uc001pxg.2_Intron|TMEM136_uc010rzm.1_Intron|TMEM136_uc001pxj.2_Silent_p.C114C|TMEM136_uc009zas.1_5'UTR|TMEM136_uc001pxi.1_5'UTR	NM_174926	NP_777586	Q6ZRR5	TM136_HUMAN	transmembrane protein 136	92	TLC.|Helical; (Potential).					integral to membrane				ovary(1)	1		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)														---	---	---	---
SORL1	6653	broad.mit.edu	37	11	121458822	121458822	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121458822G>A	uc001pxx.2	+	28	3988	c.3908G>A	c.(3907-3909)CGC>CAC	p.R1303H	SORL1_uc010rzp.1_Missense_Mutation_p.R149H|SORL1_uc010rzq.1_5'Flank	NM_003105	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor containing LDLR class	1303	Extracellular (Potential).|LDL-receptor class A 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)														---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123900949	123900949	+	Missense_Mutation	SNP	C	T	T	rs150048996		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123900949C>T	uc001pzp.1	+	1	620	c.620C>T	c.(619-621)TCG>TTG	p.S207L		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	207	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)														---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123901012	123901012	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123901012G>A	uc001pzp.1	+	1	683	c.683G>A	c.(682-684)CGC>CAC	p.R228H		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	228	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)														---	---	---	---
OR10G8	219869	broad.mit.edu	37	11	123901055	123901055	+	Silent	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123901055C>A	uc001pzp.1	+	1	726	c.726C>A	c.(724-726)TCC>TCA	p.S242S		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	242	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)														---	---	---	---
Unknown	0	broad.mit.edu	37	11	124120777	124120777	+	IGR	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124120777G>A								OR8G2 (24467 upstream) : OR8D1 (58960 downstream)																																			---	---	---	---
OR8D1	283159	broad.mit.edu	37	11	124180456	124180456	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124180456G>A	uc010sag.1	-	1	207	c.207C>T	c.(205-207)GTC>GTT	p.V69V		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D,	69	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)														---	---	---	---
OR8A1	390275	broad.mit.edu	37	11	124440462	124440462	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124440462C>T	uc010san.1	+	1	498	c.498C>T	c.(496-498)TAC>TAT	p.Y166Y		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A,	166	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)														---	---	---	---
ESAM	90952	broad.mit.edu	37	11	124623849	124623849	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124623849G>A	uc001qav.3	-	7	1039	c.866C>T	c.(865-867)GCC>GTC	p.A289V	VSIG2_uc001qas.2_5'Flank|VSIG2_uc001qat.2_5'Flank|ESAM_uc010sao.1_Intron|ESAM_uc001qau.3_Missense_Mutation_p.A216V|ESAM_uc001qaw.3_RNA|ESAM_uc001qax.3_RNA|ESAM_uc009zbi.2_Missense_Mutation_p.P288S	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule precursor	289	Cytoplasmic (Potential).				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction					0	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)														---	---	---	---
FEZ1	9638	broad.mit.edu	37	11	125325904	125325904	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125325904G>A	uc001qbx.2	-	6	918	c.766C>T	c.(766-768)CGC>TGC	p.R256C	FEZ1_uc001qbw.2_Missense_Mutation_p.R46C|FEZ1_uc010sbc.1_Missense_Mutation_p.R227C	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	zygin 1 isoform 1	256	Potential.				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)														---	---	---	---
DCPS	28960	broad.mit.edu	37	11	126213223	126213223	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:126213223G>A	uc001qdp.2	+	5	987	c.658G>A	c.(658-660)GCC>ACC	p.A220T	uc001qdq.1_Intron	NM_014026	NP_054745	Q96C86	DCPS_HUMAN	mRNA decapping enzyme	220					deadenylation-dependent decapping of nuclear-transcribed mRNA|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	exoribonuclease activity|protein binding				0	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00949)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.0604)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.08)														---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129800997	129800997	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:129800997G>A	uc001qfm.2	-	11	1676	c.1444C>T	c.(1444-1446)CAC>TAC	p.H482Y	PRDM10_uc001qfj.2_Missense_Mutation_p.H396Y|PRDM10_uc001qfk.2_Missense_Mutation_p.H396Y|PRDM10_uc001qfl.2_Missense_Mutation_p.H396Y|PRDM10_uc010sbx.1_Missense_Mutation_p.H396Y|PRDM10_uc001qfn.2_Missense_Mutation_p.H482Y|PRDM10_uc009zct.1_Missense_Mutation_p.H514Y	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	PR domain containing 10 isoform 1	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)														---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133790169	133790169	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133790169C>T	uc001qgx.3	-	18	3682	c.3451G>A	c.(3451-3453)GAG>AAG	p.E1151K		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1151	Pro-rich.|Cytoplasmic (Potential).					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)														---	---	---	---
IGSF9B	22997	broad.mit.edu	37	11	133806075	133806075	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133806075C>T	uc001qgx.3	-	6	925	c.694G>A	c.(694-696)GTC>ATC	p.V232I	IGSF9B_uc001qgy.1_Missense_Mutation_p.V74I	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	232	Extracellular (Potential).|Ig-like 3.					integral to membrane|plasma membrane					0	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)														---	---	---	---
B3GAT1	27087	broad.mit.edu	37	11	134253993	134253993	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134253993G>A	uc001qhq.2	-	4	463	c.202C>T	c.(202-204)CGC>TGC	p.R68C	B3GAT1_uc001qhr.2_Missense_Mutation_p.R68C|B3GAT1_uc010scv.1_Missense_Mutation_p.R81C	NM_018644	NP_061114	Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1	68	Lumenal (Potential).				carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			ovary(1)	1	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)														---	---	---	---
IQSEC3	440073	broad.mit.edu	37	12	248347	248347	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:248347C>T	uc001qhw.1	+	1	915	c.909C>T	c.(907-909)TCC>TCT	p.S303S	IQSEC3_uc001qhu.1_Silent_p.S303S|IQSEC3_uc001qht.1_Silent_p.S388S|uc001qhv.1_Intron	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	606					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)														---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	422354	422354	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:422354C>T	uc001qif.1	-	20	3267	c.2904G>A	c.(2902-2904)AGG>AGA	p.R968R	KDM5A_uc001qie.1_Silent_p.R968R|KDM5A_uc010sdn.1_Silent_p.R927R	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	968					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3								T 	NUP98	AML								---	---	---	---
KDM5A	5927	broad.mit.edu	37	12	463370	463370	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:463370G>A	uc001qif.1	-	8	1264	c.901C>T	c.(901-903)CGG>TGG	p.R301W	KDM5A_uc001qie.1_Missense_Mutation_p.R301W|KDM5A_uc010sdn.1_Missense_Mutation_p.R260W|KDM5A_uc010sdo.1_Intron	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	retinoblastoma binding protein 2 isoform 1	301	PHD-type 1.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)|ovary(1)	3								T 	NUP98	AML								---	---	---	---
PARP11	57097	broad.mit.edu	37	12	3938135	3938135	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:3938135T>G	uc001qmk.1	-	2	243	c.188A>C	c.(187-189)AAC>ACC	p.N63T	PARP11_uc001qml.2_Missense_Mutation_p.N70T|PARP11_uc009zef.2_RNA|PARP11_uc001qmm.2_Intron|PARP11_uc001qmn.2_Intron	NM_020367	NP_065100	Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11	63	WWE.						NAD+ ADP-ribosyltransferase activity			ovary(1)|central_nervous_system(1)	2			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)															---	---	---	---
ANO2	57101	broad.mit.edu	37	12	5674753	5674753	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:5674753C>T	uc001qnm.2	-	25	2770	c.2698G>A	c.(2698-2700)GCC>ACC	p.A900T		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	anoctamin 2	905	Extracellular (Potential).					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			ovary(4)|large_intestine(2)|central_nervous_system(1)	7																		---	---	---	---
SCNN1A	6337	broad.mit.edu	37	12	6457297	6457297	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6457297C>T	uc001qnx.2	-	13	2041	c.1752G>A	c.(1750-1752)CTG>CTA	p.L584L	SCNN1A_uc001qnv.2_Silent_p.L284L|SCNN1A_uc001qnw.2_Silent_p.L643L|SCNN1A_uc010sfb.1_Silent_p.L607L	NM_001038	NP_001029	P37088	SCNNA_HUMAN	sodium channel, nonvoltage-gated 1 alpha isoform	584	Cytoplasmic (By similarity).				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding				0					Amiloride(DB00594)|Triamterene(DB00384)													---	---	---	---
NCAPD2	9918	broad.mit.edu	37	12	6619670	6619670	+	Intron	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6619670T>C	uc001qoo.2	+						NCAPD2_uc009zen.1_Intron|NCAPD2_uc010sfd.1_Intron|SCARNA10_uc009zeo.1_RNA	NM_014865	NP_055680			non-SMC condensin I complex, subunit D2						cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5																		---	---	---	---
NCAPD2	9918	broad.mit.edu	37	12	6619909	6619909	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6619909G>A	uc001qoo.2	+	5	423	c.377G>A	c.(376-378)CGT>CAT	p.R126H	NCAPD2_uc009zen.1_Intron|NCAPD2_uc010sfd.1_Missense_Mutation_p.R81H	NM_014865	NP_055680	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	126	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			ovary(2)|lung(1)|breast(1)|kidney(1)	5																		---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6709063	6709063	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6709063C>T	uc001qpo.2	-	10	1522	c.1358G>A	c.(1357-1359)CGG>CAG	p.R453Q	CHD4_uc001qpn.2_Missense_Mutation_p.R446Q|CHD4_uc001qpp.2_Missense_Mutation_p.R450Q	NM_001273	NP_001264	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	453	PHD-type 2.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2																		---	---	---	---
TPI1	7167	broad.mit.edu	37	12	6978285	6978285	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6978285G>A	uc001qrk.2	+	3	300	c.262G>A	c.(262-264)GGA>AGA	p.G88R	TPI1_uc010sfo.1_Missense_Mutation_p.G6R	NM_000365	NP_000356	P60174	TPIS_HUMAN	triosephosphate isomerase 1 isoform 1	88					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity				0																OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ACSM4	341392	broad.mit.edu	37	12	7480936	7480936	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7480936C>T	uc001qsx.1	+	13	1710	c.1710C>T	c.(1708-1710)AAC>AAT	p.N570N		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	570					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding				0																		---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7527057	7527057	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7527057G>A	uc001qsy.2	-	13	3416	c.3390C>T	c.(3388-3390)GAC>GAT	p.D1130D	CD163L1_uc010sge.1_Silent_p.D1140D	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	1130	SRCR 10.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11																		---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7527911	7527911	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7527911A>G	uc001qsy.2	-	11	2993	c.2967T>C	c.(2965-2967)TGT>TGC	p.C989C	CD163L1_uc010sge.1_Silent_p.C999C	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	scavenger receptor cysteine-rich type 1	989	SRCR 9.|Extracellular (Potential).					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			ovary(8)|skin(2)|central_nervous_system(1)	11																		---	---	---	---
FAM90A1	55138	broad.mit.edu	37	12	8375278	8375278	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:8375278C>T	uc001qui.2	-	7	1094	c.535G>A	c.(535-537)GTC>ATC	p.V179I	FAM90A1_uc001quh.2_Missense_Mutation_p.V179I	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	hypothetical protein LOC55138	179							nucleic acid binding|zinc ion binding			ovary(1)	1				Kidney(36;0.0866)														---	---	---	---
PZP	5858	broad.mit.edu	37	12	9346768	9346768	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9346768C>T	uc001qvl.2	-	11	1188	c.1159G>A	c.(1159-1161)GCC>ACC	p.A387T	PZP_uc009zgl.2_Missense_Mutation_p.A256T	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5																		---	---	---	---
PZP	5858	broad.mit.edu	37	12	9354947	9354947	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:9354947C>T	uc001qvl.2	-	4	477	c.448G>A	c.(448-450)GTG>ATG	p.V150M	PZP_uc009zgl.2_Missense_Mutation_p.V19M	NM_002864	NP_002855			pregnancy-zone protein precursor											ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5																		---	---	---	---
CSDA	8531	broad.mit.edu	37	12	10865878	10865878	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10865878G>A	uc001qyt.2	-	5	748	c.505C>T	c.(505-507)CGT>TGT	p.R169C	CSDA_uc001qyu.2_Missense_Mutation_p.R169C	NM_003651	NP_003642	P16989	DBPA_HUMAN	cold shock domain protein A isoform a	169					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			ovary(2)|lung(1)|large_intestine(1)	4	Glioma(1;0.155)																	---	---	---	---
TAS2R8	50836	broad.mit.edu	37	12	10959062	10959062	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10959062T>C	uc010shh.1	-	1	518	c.518A>G	c.(517-519)CAT>CGT	p.H173R		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	173	Extracellular (Potential).				sensory perception of taste	integral to membrane	taste receptor activity			ovary(2)	2																		---	---	---	---
KIAA1467	57613	broad.mit.edu	37	12	13229019	13229019	+	Silent	SNP	G	A	A	rs142402487		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13229019G>A	uc001rbi.2	+	11	1607	c.1584G>A	c.(1582-1584)GCG>GCA	p.A528A	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	528						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)														---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13715904	13715904	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13715904G>A	uc001rbt.2	-	13	4447	c.4268C>T	c.(4267-4269)GCC>GTC	p.A1423V		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	1423	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			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---
ATF7IP	55729	broad.mit.edu	37	12	14589054	14589054	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14589054C>T	uc001rbw.2	+	4	1818	c.1660C>T	c.(1660-1662)CGA>TGA	p.R554*	ATF7IP_uc010shs.1_Nonsense_Mutation_p.R553*|ATF7IP_uc001rbu.2_Nonsense_Mutation_p.R554*|ATF7IP_uc001rbv.1_Nonsense_Mutation_p.R553*|ATF7IP_uc001rbx.2_Nonsense_Mutation_p.R553*|ATF7IP_uc010sht.1_Nonsense_Mutation_p.R554*|ATF7IP_uc001rby.3_Nonsense_Mutation_p.R554*|ATF7IP_uc001rca.2_Nonsense_Mutation_p.R554*	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting	554	Glu-rich.|Nuclear localization signal (By similarity).				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			lung(3)|ovary(1)|skin(1)	5																		---	---	---	---
WBP11	51729	broad.mit.edu	37	12	14949857	14949857	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:14949857G>A	uc001rci.2	-	5	432	c.271C>T	c.(271-273)CGT>TGT	p.R91C		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	91	Potential.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			ovary(1)|lung(1)	2																		---	---	---	---
RECQL	5965	broad.mit.edu	37	12	21644581	21644581	+	Missense_Mutation	SNP	G	A	A	rs145067169		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21644581G>A	uc001rex.2	-	4	434	c.86C>T	c.(85-87)ACG>ATG	p.T29M	RECQL_uc001rey.2_Missense_Mutation_p.T29M	NM_032941	NP_116559	P46063	RECQ1_HUMAN	RecQ protein-like	29					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			ovary(1)|lung(1)	2													Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---
KCNJ8	3764	broad.mit.edu	37	12	21926413	21926413	+	Silent	SNP	C	T	T	rs147347094		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21926413C>T	uc001rff.2	-	2	476	c.138G>A	c.(136-138)GCG>GCA	p.A46A		NM_004982	NP_004973	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel J8	46	Cytoplasmic (By similarity).					voltage-gated potassium channel complex					0					Levosimendan(DB00922)											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
KCNJ8	3764	broad.mit.edu	37	12	21926484	21926484	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:21926484G>A	uc001rff.2	-	2	405	c.67C>T	c.(67-69)CGC>TGC	p.R23C		NM_004982	NP_004973	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel J8	23	Cytoplasmic (By similarity).					voltage-gated potassium channel complex					0					Levosimendan(DB00922)											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
LRMP	4033	broad.mit.edu	37	12	25232353	25232353	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:25232353A>G	uc001rgh.2	+	7	1127	c.93A>G	c.(91-93)TTA>TTG	p.L31L	LRMP_uc001rgg.1_RNA|LRMP_uc010sja.1_Silent_p.L31L|LRMP_uc010sjb.1_5'UTR|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Silent_p.L31L|LRMP_uc010sjd.1_5'UTR	NM_006152	NP_006143	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	87	Cytoplasmic (Potential).				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)																	---	---	---	---
RASSF8	11228	broad.mit.edu	37	12	26217526	26217526	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26217526G>T	uc001rgx.2	+	3	420	c.199G>T	c.(199-201)GGG>TGG	p.G67W	RASSF8_uc001rgy.2_Missense_Mutation_p.G67W|RASSF8_uc001rgz.2_Missense_Mutation_p.G67W|RASSF8_uc009zjd.1_Missense_Mutation_p.G67W|RASSF8_uc009zje.1_Missense_Mutation_p.G67W	NM_007211	NP_009142	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family	67	Ras-associating.				signal transduction						0	Colorectal(261;0.0847)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26634090	26634090	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26634090G>A	uc001rhg.2	-	43	6514	c.6097C>T	c.(6097-6099)CGA>TGA	p.R2033*	ITPR2_uc009zjg.1_Nonsense_Mutation_p.R184*	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	2033	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)																	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26714893	26714893	+	Intron	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26714893A>G	uc001rhg.2	-							NM_002223	NP_002214			inositol 1,4,5-triphosphate receptor, type 2						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)																	---	---	---	---
STK38L	23012	broad.mit.edu	37	12	27450697	27450697	+	Missense_Mutation	SNP	A	G	G	rs147758452		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:27450697A>G	uc001rhr.2	+	2	243	c.44A>G	c.(43-45)AAC>AGC	p.N15S	STK38L_uc001rhs.2_RNA|STK38L_uc010sjm.1_Intron	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	15					intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|kidney(1)	5	Colorectal(261;0.0847)																	---	---	---	---
DDX11	1663	broad.mit.edu	37	12	31244731	31244731	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31244731G>C	uc001rjt.1	+	10	1419	c.1168G>C	c.(1168-1170)GTG>CTG	p.V390L	DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.V390L|DDX11_uc001rjs.1_Missense_Mutation_p.V390L|DDX11_uc001rju.1_Missense_Mutation_p.V68L|DDX11_uc001rjv.1_Missense_Mutation_p.V390L|DDX11_uc001rjw.1_Missense_Mutation_p.V364L|DDX11_uc001rjx.1_Missense_Mutation_p.V68L|DDX11_uc009zjn.1_RNA	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	390	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)														Multiple Myeloma(12;0.14)			---	---	---	---
DDX11	1663	broad.mit.edu	37	12	31244773	31244773	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31244773G>A	uc001rjt.1	+	10	1461	c.1210G>A	c.(1210-1212)GGC>AGC	p.G404S	DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.G404S|DDX11_uc001rjs.1_Missense_Mutation_p.G404S|DDX11_uc001rju.1_Missense_Mutation_p.G82S|DDX11_uc001rjv.1_Missense_Mutation_p.G404S|DDX11_uc001rjw.1_Missense_Mutation_p.G378S|DDX11_uc001rjx.1_Missense_Mutation_p.G82S|DDX11_uc009zjn.1_RNA	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	404	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)														Multiple Myeloma(12;0.14)			---	---	---	---
DNM1L	10059	broad.mit.edu	37	12	32893374	32893374	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:32893374G>A	uc001rld.2	+	18	2077	c.1916G>A	c.(1915-1917)CGG>CAG	p.R639Q	DNM1L_uc001rle.2_Missense_Mutation_p.R613Q|DNM1L_uc001rlf.2_Missense_Mutation_p.R602Q|DNM1L_uc010skh.1_Missense_Mutation_p.R705Q|DNM1L_uc001rlg.2_Missense_Mutation_p.R694Q|DNM1L_uc001rlh.2_Missense_Mutation_p.R681Q|DNM1L_uc010ski.1_Missense_Mutation_p.R436Q	NM_012062	NP_036192	O00429	DNM1L_HUMAN	dynamin 1-like isoform 1	639	Interaction with GSK3B.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			ovary(1)|pancreas(1)	2	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)																	---	---	---	---
SYT10	341359	broad.mit.edu	37	12	33532867	33532867	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:33532867C>T	uc001rll.1	-	6	1697	c.1400G>A	c.(1399-1401)TGC>TAC	p.C467Y	SYT10_uc009zju.1_Missense_Mutation_p.C277Y	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	467	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(1)|skin(1)	2	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)																	---	---	---	---
C12orf40	283461	broad.mit.edu	37	12	40044126	40044126	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:40044126G>A	uc001rmc.2	+	7	823	c.656G>A	c.(655-657)CGA>CAA	p.R219Q	C12orf40_uc009zjv.1_RNA	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	hypothetical protein LOC283461	219										ovary(6)	6																		---	---	---	---
CNTN1	1272	broad.mit.edu	37	12	41422874	41422874	+	Silent	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:41422874A>C	uc001rmm.1	+	23	2946	c.2833A>C	c.(2833-2835)AGA>CGA	p.R945R	CNTN1_uc001rmn.1_Silent_p.R934R	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	contactin 1 isoform 1 precursor	945	Fibronectin type-III 4.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				lung(4)|ovary(3)|large_intestine(1)|skin(1)	9	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)																---	---	---	---
ANO6	196527	broad.mit.edu	37	12	45816814	45816814	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:45816814C>T	uc001roo.2	+	19	2830	c.2495C>T	c.(2494-2496)GCA>GTA	p.A832V	ANO6_uc010sld.1_Missense_Mutation_p.A832V|ANO6_uc010sle.1_Missense_Mutation_p.A832V|ANO6_uc010slf.1_Missense_Mutation_p.A853V|ANO6_uc010slg.1_Missense_Mutation_p.A814V	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN	anoctamin 6 isoform a	832	Helical; (Potential).				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			ovary(1)|kidney(1)	2																		---	---	---	---
SLC38A4	55089	broad.mit.edu	37	12	47170743	47170743	+	Missense_Mutation	SNP	G	A	A	rs147575073		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:47170743G>A	uc001rpi.2	-	13	1517	c.1118C>T	c.(1117-1119)ACG>ATG	p.T373M	SLC38A4_uc001rpj.2_Missense_Mutation_p.T373M	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	373	Helical; (Potential).				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			ovary(2)|central_nervous_system(1)|skin(1)	4	Lung SC(27;0.192)|Renal(347;0.236)																	---	---	---	---
COL2A1	1280	broad.mit.edu	37	12	48393747	48393747	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48393747C>T	uc001rqu.2	-	2	428	c.247G>A	c.(247-249)GGA>AGA	p.G83R	COL2A1_uc001rqv.2_Intron	NM_001844	NP_001835	P02458	CO2A1_HUMAN	collagen, type II, alpha 1 isoform 1 precursor	83	VWFC.				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)													---	---	---	---
SENP1	29843	broad.mit.edu	37	12	48440801	48440801	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48440801A>G	uc001rqx.2	-	16	2182	c.1736T>C	c.(1735-1737)TTT>TCT	p.F579S	SENP1_uc001rqw.2_Missense_Mutation_p.F579S|SENP1_uc001rqy.2_Missense_Mutation_p.F380S|SENP1_uc001rqz.2_Missense_Mutation_p.F380S|SENP1_uc009zkx.2_Missense_Mutation_p.F579S	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	sentrin/SUMO-specific protease 1	579	Protease.				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			pancreas(2)|lung(1)	3		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)																---	---	---	---
PFKM	5213	broad.mit.edu	37	12	48529151	48529151	+	Silent	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48529151C>A	uc001rrc.2	+	10	1091	c.921C>A	c.(919-921)GCC>GCA	p.A307A	PFKM_uc001rra.1_5'UTR|PFKM_uc001rrb.1_Silent_p.A378A|PFKM_uc001rrd.2_5'UTR|PFKM_uc001rre.1_Silent_p.A307A|PFKM_uc001rrg.1_Intron	NM_000289	NP_000280	P08237	K6PF_HUMAN	phosphofructokinase, muscle	307					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4																		---	---	---	---
CACNB3	784	broad.mit.edu	37	12	49220151	49220151	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49220151G>A	uc001rsl.1	+	10	945	c.744G>A	c.(742-744)GCG>GCA	p.A248A	CACNB3_uc010sly.1_Silent_p.A235A|CACNB3_uc010slz.1_Silent_p.A247A|CACNB3_uc001rsk.1_Silent_p.A95A	NM_000725	NP_000716	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3	248					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity				0					Verapamil(DB00661)													---	---	---	---
MCRS1	10445	broad.mit.edu	37	12	49958367	49958367	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49958367C>T	uc001ruk.1	-	6	645	c.454G>A	c.(454-456)GAC>AAC	p.D152N	MCRS1_uc001rui.1_Missense_Mutation_p.D165N|MCRS1_uc001ruj.1_Missense_Mutation_p.D139N|MCRS1_uc001rul.1_Missense_Mutation_p.D152N|MCRS1_uc009zlj.1_5'UTR|MCRS1_uc001rum.1_Missense_Mutation_p.D139N|MCRS1_uc001run.1_Missense_Mutation_p.D152N	NM_006337	NP_006328	Q96EZ8	MCRS1_HUMAN	microspherule protein 1 isoform 1	152					DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			large_intestine(1)	1																		---	---	---	---
NCKAP5L	57701	broad.mit.edu	37	12	50186646	50186646	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50186646G>T	uc009zlk.2	-	11	3666	c.3464C>A	c.(3463-3465)CCA>CAA	p.P1155Q	NCKAP5L_uc001rvc.3_Missense_Mutation_p.P359Q|NCKAP5L_uc001rvb.2_Missense_Mutation_p.P748Q	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1151	Pro-rich.									central_nervous_system(1)	1																		---	---	---	---
BCDIN3D	144233	broad.mit.edu	37	12	50232398	50232398	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50232398T>G	uc001rvh.2	-	2	677	c.635A>C	c.(634-636)AAG>ACG	p.K212T	LOC100286844_uc010smm.1_RNA|LOC100286844_uc001rvg.2_RNA|LOC100286844_uc010smn.1_RNA	NM_181708	NP_859059	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	212	Bin3-type SAM.						methyltransferase activity			ovary(1)	1																		---	---	---	---
KRT7	3855	broad.mit.edu	37	12	52629114	52629114	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52629114G>A	uc001saa.1	+	2	627	c.500G>A	c.(499-501)CGG>CAG	p.R167Q	KRT7_uc009zmf.1_Missense_Mutation_p.R167Q	NM_005556	NP_005547	P08729	K2C7_HUMAN	keratin 7	167	Rod.|Coil 1B.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity				0				BRCA - Breast invasive adenocarcinoma(357;0.105)														---	---	---	---
KRT85	3891	broad.mit.edu	37	12	52757945	52757945	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52757945G>A	uc001sag.2	-	4	813	c.693C>T	c.(691-693)GAC>GAT	p.D231D		NM_002283	NP_002274	P78386	KRT85_HUMAN	keratin 85	231	Rod.|Coil 1B.				epidermis development	keratin filament	protein binding|structural molecule activity			ovary(1)	1	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)														---	---	---	---
KRT72	140807	broad.mit.edu	37	12	52981619	52981619	+	Missense_Mutation	SNP	G	A	A	rs140024110	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:52981619G>A	uc001sar.2	-	7	1192	c.1106C>T	c.(1105-1107)ACG>ATG	p.T369M	KRT72_uc001saq.2_Missense_Mutation_p.T369M|KRT72_uc010sns.1_Missense_Mutation_p.T327M|KRT72_uc010snt.1_Missense_Mutation_p.T181M	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN	keratin 72 isoform 1	369	Coil 2.|Rod.					keratin filament	structural molecule activity			ovary(5)|pancreas(1)	6				BRCA - Breast invasive adenocarcinoma(357;0.195)														---	---	---	---
TENC1	23371	broad.mit.edu	37	12	53449006	53449006	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53449006C>T	uc001sbp.2	+	8	694	c.559C>T	c.(559-561)CGC>TGC	p.R187C	uc001sbk.1_5'Flank|TENC1_uc001sbl.2_Missense_Mutation_p.R63C|TENC1_uc001sbm.2_Missense_Mutation_p.R197C|TENC1_uc001sbn.2_Missense_Mutation_p.R197C|TENC1_uc001sbo.1_Missense_Mutation_p.R187C	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	187	Phosphatase tensin-type.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2																		---	---	---	---
TENC1	23371	broad.mit.edu	37	12	53453017	53453017	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53453017C>T	uc001sbp.2	+	18	1727	c.1592C>T	c.(1591-1593)CCG>CTG	p.P531L	TENC1_uc001sbl.2_Missense_Mutation_p.P407L|TENC1_uc001sbn.2_Missense_Mutation_p.P541L|TENC1_uc001sbq.2_Missense_Mutation_p.P26L|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.P26L|TENC1_uc001sbs.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	531	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2																		---	---	---	---
MFSD5	84975	broad.mit.edu	37	12	53647601	53647601	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53647601A>G	uc001sci.1	+	2	1173	c.982A>G	c.(982-984)ATG>GTG	p.M328V	MFSD5_uc001sch.1_Missense_Mutation_p.M435V	NM_032889	NP_116278	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing	328	Helical; (Potential).				transport	integral to membrane				skin(2)|ovary(1)	3																		---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53878889	53878889	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53878889C>T	uc001sdm.1	-	7	1089	c.991G>A	c.(991-993)GTG>ATG	p.V331M	MAP3K12_uc001sdn.1_Missense_Mutation_p.V364M	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	331	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5																		---	---	---	---
SMUG1	23583	broad.mit.edu	37	12	54576089	54576089	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54576089C>G	uc001sff.1	-	4	733	c.604G>C	c.(604-606)GTG>CTG	p.V202L	SMUG1_uc001sfa.1_RNA|SMUG1_uc001sfe.1_3'UTR|SMUG1_uc001sfg.1_Missense_Mutation_p.V202L|SMUG1_uc009znf.1_Missense_Mutation_p.V202L|SMUG1_uc001sfb.3_Intron|SMUG1_uc001sfc.3_Intron|SMUG1_uc001sfd.3_Intron	NM_014311	NP_055126	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional	202					depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity				0													BER_DNA_glycosylases					---	---	---	---
GPR84	53831	broad.mit.edu	37	12	54757083	54757083	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54757083T>C	uc001sfu.2	-	2	643	c.553A>G	c.(553-555)ATC>GTC	p.I185V		NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	185	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)	2																		---	---	---	---
ITGA5	3678	broad.mit.edu	37	12	54799470	54799470	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54799470C>T	uc001sga.2	-	11	1062	c.994G>A	c.(994-996)GCC>ACC	p.A332T	ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA	NM_002205	NP_002196	P08648	ITA5_HUMAN	integrin alpha 5 precursor	332	Extracellular (Potential).|FG-GAP 5.				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																		---	---	---	---
ZC3H10	84872	broad.mit.edu	37	12	56514975	56514975	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56514975G>A	uc001sjp.1	+	3	818	c.629G>A	c.(628-630)CGG>CAG	p.R210Q		NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	210							nucleic acid binding|zinc ion binding				0			OV - Ovarian serous cystadenocarcinoma(18;0.12)															---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56565506	56565506	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56565506G>A	uc001skb.2	-	20	2155	c.2049C>T	c.(2047-2049)GTC>GTT	p.V683V	SMARCC2_uc001skd.2_Silent_p.V714V|SMARCC2_uc001ska.2_Silent_p.V714V|SMARCC2_uc001skc.2_Silent_p.V713V|SMARCC2_uc010sqf.1_Silent_p.V603V	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	683					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)															---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56572248	56572248	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56572248A>G	uc001skb.2	-	14	1356	c.1250T>C	c.(1249-1251)GTG>GCG	p.V417A	SMARCC2_uc001skd.2_Missense_Mutation_p.V417A|SMARCC2_uc001ska.2_Missense_Mutation_p.V417A|SMARCC2_uc001skc.2_Missense_Mutation_p.V417A|SMARCC2_uc010sqf.1_Missense_Mutation_p.V306A	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	417					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)															---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56572298	56572298	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56572298C>T	uc001skb.2	-	14	1306	c.1200G>A	c.(1198-1200)ACG>ACA	p.T400T	SMARCC2_uc001skd.2_Silent_p.T400T|SMARCC2_uc001ska.2_Silent_p.T400T|SMARCC2_uc001skc.2_Silent_p.T400T|SMARCC2_uc010sqf.1_Silent_p.T289T	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	SWI/SNF-related matrix-associated	400					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6			OV - Ovarian serous cystadenocarcinoma(18;0.123)															---	---	---	---
ANKRD52	283373	broad.mit.edu	37	12	56639313	56639313	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56639313T>C	uc001skm.3	-	21	2342	c.2252A>G	c.(2251-2253)GAC>GGC	p.D751G		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	751							protein binding			ovary(2)	2																		---	---	---	---
STAT2	6773	broad.mit.edu	37	12	56750261	56750261	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56750261C>T	uc001slc.2	-	2	173	c.95G>A	c.(94-96)CGA>CAA	p.R32Q	STAT2_uc001sld.2_Missense_Mutation_p.R32Q|STAT2_uc010sqn.1_Missense_Mutation_p.R32Q	NM_005419	NP_005410	P52630	STAT2_HUMAN	signal transducer and activator of transcription	32					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			ovary(1)|lung(1)|kidney(1)	3																		---	---	---	---
ATP5B	506	broad.mit.edu	37	12	57032994	57032994	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57032994C>T	uc001slr.2	-	9	1490	c.1385G>A	c.(1384-1386)CGT>CAT	p.R462H	BAZ2A_uc001slq.1_5'Flank|BAZ2A_uc010sqr.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	mitochondrial ATP synthase beta subunit	462					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			ovary(1)	1																		---	---	---	---
NAB2	4665	broad.mit.edu	37	12	57486315	57486315	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57486315C>T	uc001smz.2	+	3	1420	c.1042C>T	c.(1042-1044)CGC>TGC	p.R348C		NM_005967	NP_005958	Q15742	NAB2_HUMAN	NGFI-A binding protein 2	348	NCD2.				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57573928	57573928	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57573928C>T	uc001snd.2	+							NM_002332	NP_002323			low density lipoprotein-related protein 1						aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57587452	57587452	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57587452C>T	uc001snd.2	+	47	8254	c.7788C>T	c.(7786-7788)GAC>GAT	p.D2596D	MIR1228_hsa-mir-1228|MI0006318_5'Flank	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	2596	Extracellular (Potential).|LDL-receptor class A 12.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57587805	57587805	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57587805G>A	uc001snd.2	+						MIR1228_hsa-mir-1228|MI0006318_5'Flank	NM_002332	NP_002323			low density lipoprotein-related protein 1						aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57601868	57601868	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57601868C>T	uc001snd.2	+	77	12373	c.11907C>T	c.(11905-11907)GCC>GCT	p.A3969A		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	3969	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---
SHMT2	6472	broad.mit.edu	37	12	57626076	57626076	+	Splice_Site	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57626076G>A	uc001snf.1	+	5	604	c.594_splice	c.e5+1	p.N198_splice	SHMT2_uc001sng.1_Splice_Site_p.N94_splice|SHMT2_uc001snh.1_Splice_Site_p.N37_splice|SHMT2_uc009zpk.1_Splice_Site_p.N198_splice|SHMT2_uc001sni.1_Splice_Site_p.N177_splice|SHMT2_uc010srg.1_Splice_Site_p.N207_splice|SHMT2_uc001snj.1_Splice_Site_p.T93_splice|SHMT2_uc010srh.1_Splice_Site_p.N177_splice|SHMT2_uc001snk.1_Splice_Site_p.T93_splice|SHMT2_uc010sri.1_Splice_Site_p.N177_splice|SHMT2_uc001snl.2_Splice_Site_p.T93_splice|SHMT2_uc010srj.1_5'Flank	NM_005412	NP_005403			serine hydroxymethyltransferase 2							microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			ovary(1)|central_nervous_system(1)	2					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)													---	---	---	---
ARHGAP9	64333	broad.mit.edu	37	12	57868256	57868256	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57868256C>T	uc001sod.2	-	18	2196	c.2003G>A	c.(2002-2004)CGT>CAT	p.R668H	ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Missense_Mutation_p.R394H|ARHGAP9_uc001soa.2_Missense_Mutation_p.R267H|ARHGAP9_uc001sob.2_Missense_Mutation_p.R578H|ARHGAP9_uc001soc.2_Missense_Mutation_p.R578H|ARHGAP9_uc001soe.1_Missense_Mutation_p.R657H	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9 isoform 1	597	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			lung(1)	1			GBM - Glioblastoma multiforme(3;3.37e-34)															---	---	---	---
DDIT3	1649	broad.mit.edu	37	12	57910804	57910804	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57910804C>A	uc001soi.2	-	4	478	c.298G>T	c.(298-300)GGG>TGG	p.G100W	MARS_uc001sof.1_Intron|DDIT3_uc009zps.2_Missense_Mutation_p.G123W|DDIT3_uc009zpt.2_Missense_Mutation_p.G123W	NM_004083	NP_004074	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	100					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		FUS/DDIT3(623)|EWSR1/DDIT3(43)	soft_tissue(666)|large_intestine(1)|central_nervous_system(1)|lung(1)|skin(1)|ovary(1)	671								T	FUS	liposarcoma								---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57970115	57970115	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57970115C>T	uc001sor.1	+	19	2360	c.2152C>T	c.(2152-2154)CGG>TGG	p.R718W	KIF5A_uc010srr.1_Missense_Mutation_p.R629W	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	718					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3																		---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57971834	57971834	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57971834G>A	uc001sor.1	+	22	2612	c.2404G>A	c.(2404-2406)GTT>ATT	p.V802I	KIF5A_uc010srr.1_Missense_Mutation_p.V713I	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	kinesin family member 5A	802					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			ovary(2)|skin(1)	3																		---	---	---	---
AVPR1A	552	broad.mit.edu	37	12	63541204	63541204	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:63541204T>C	uc001sro.1	-	2	3166	c.1192A>G	c.(1192-1194)ACG>GCG	p.T398A		NM_000706	NP_000697	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	398	Cytoplasmic (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity				0			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)													---	---	---	---
C12orf66	144577	broad.mit.edu	37	12	64587771	64587771	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64587771G>A	uc001srw.3	-	3	1248	c.1189C>T	c.(1189-1191)CGC>TGC	p.R397C	C12orf66_uc009zql.2_Missense_Mutation_p.R344C	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	397										ovary(1)	1																		---	---	---	---
C12orf66	144577	broad.mit.edu	37	12	64588374	64588374	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:64588374G>C	uc001srw.3	-	3	645	c.586C>G	c.(586-588)CAT>GAT	p.H196D	C12orf66_uc009zql.2_Missense_Mutation_p.H143D	NM_152440	NP_689653	Q96MD2	CL066_HUMAN	hypothetical protein LOC144577	196										ovary(1)	1																		---	---	---	---
RASSF3	283349	broad.mit.edu	37	12	65082237	65082237	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:65082237C>T	uc001ssd.2	+						RASSF3_uc009zqn.2_Intron|RASSF3_uc001sse.2_Intron	NM_178169	NP_835463			Ras association (RalGDS/AF-6) domain family						signal transduction	cytoplasm|microtubule	identical protein binding				0			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)														---	---	---	---
MDM2	4193	broad.mit.edu	37	12	69222698	69222698	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:69222698C>T	uc001sui.2	+	8	958	c.671C>T	c.(670-672)ACG>ATG	p.T224M	MDM2_uc009zri.2_Missense_Mutation_p.T179M|MDM2_uc009zqx.2_Missense_Mutation_p.T169M|MDM2_uc009zqw.2_Intron|MDM2_uc001suk.2_Intron|MDM2_uc009zqy.1_Missense_Mutation_p.T213M|MDM2_uc001sun.3_Intron|MDM2_uc009zqz.2_Missense_Mutation_p.T218M|MDM2_uc009zra.2_Intron|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_Intron|MDM2_uc009zrc.2_Intron|MDM2_uc009zre.2_Intron|MDM2_uc009zrf.2_Intron|MDM2_uc001suo.2_Intron|MDM2_uc009zrg.2_Intron|MDM2_uc009zrh.2_Intron	NM_002392	NP_002383	Q00987	MDM2_HUMAN	mouse double minute 2 homolog isoform MDM2	218	ARF-binding.|Interaction with MTBP (By similarity).|Interaction with PYHIN1.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)|central_nervous_system(1)	3	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)					A		sarcoma|glioma|colorectal|other								---	---	---	---
TBC1D15	64786	broad.mit.edu	37	12	72312239	72312239	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:72312239G>A	uc001swu.2	+	15	1636	c.1627G>A	c.(1627-1629)GAC>AAC	p.D543N	TBC1D15_uc010stt.1_Missense_Mutation_p.D512N|TBC1D15_uc001swv.2_Missense_Mutation_p.D526N|TBC1D15_uc001sww.2_Missense_Mutation_p.D275N	NM_022771	NP_073608	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15 isoform 1	521	Rab-GAP TBC.						protein binding|Rab GTPase activator activity				0																		---	---	---	---
KITLG	4254	broad.mit.edu	37	12	88912486	88912486	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:88912486T>G	uc001tav.2	-	4	534	c.351A>C	c.(349-351)GAA>GAC	p.E117D	KITLG_uc009zsn.2_Missense_Mutation_p.E45D|KITLG_uc001taw.2_Missense_Mutation_p.E117D|KITLG_uc009zso.1_Intron	NM_000899	NP_000890	P21583	SCF_HUMAN	KIT ligand isoform b precursor	117	Extracellular (Potential).				cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			ovary(1)	1														Testicular_Cancer_Familial_Clustering_of				---	---	---	---
UHRF1BP1L	23074	broad.mit.edu	37	12	100452762	100452762	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:100452762G>A	uc001tgq.2	-	14	2522	c.2293C>T	c.(2293-2295)CGG>TGG	p.R765W	UHRF1BP1L_uc001tgp.2_Missense_Mutation_p.R415W	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	UHRF1 (ICBP90) binding protein 1-like isoform a	765										ovary(2)	2																		---	---	---	---
UTP20	27340	broad.mit.edu	37	12	101774925	101774925	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101774925G>T	uc001tia.1	+	58	7748	c.7592G>T	c.(7591-7593)AGT>ATT	p.S2531I		NM_014503	NP_055318	O75691	UTP20_HUMAN	down-regulated in metastasis	2531					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			ovary(2)|breast(2)	4																		---	---	---	---
GNPTAB	79158	broad.mit.edu	37	12	102179952	102179952	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102179952G>A	uc001tit.2	-	5	588	c.409C>T	c.(409-411)CCA>TCA	p.P137S	GNPTAB_uc001tiu.1_Missense_Mutation_p.P137S|GNPTAB_uc001tiv.3_5'UTR	NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	137					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2																		---	---	---	---
PAH	5053	broad.mit.edu	37	12	103260410	103260410	+	Missense_Mutation	SNP	C	T	T	rs5030843		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:103260410C>T	uc001tjq.1	-	6	945	c.473G>A	c.(472-474)CGG>CAG	p.R158Q	PAH_uc010swc.1_Missense_Mutation_p.R158Q	NM_000277	NP_000268	P00439	PH4H_HUMAN	phenylalanine hydroxylase	158			R -> W (in PKU).|R -> Q (in PKU; haplotypes 1,2,4,7,16, 28).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			ovary(4)	4					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)													---	---	---	---
HSP90B1	7184	broad.mit.edu	37	12	104335416	104335416	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104335416C>T	uc001tkb.1	+	10	1345	c.1240C>T	c.(1240-1242)CGC>TGC	p.R414C	HSP90B1_uc010swg.1_Missense_Mutation_p.R79C|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	heat shock protein 90kDa beta, member 1	414					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			ovary(2)|skin(1)	3					Rifabutin(DB00615)													---	---	---	---
C12orf45	121053	broad.mit.edu	37	12	105388285	105388285	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:105388285G>A	uc001tlb.2	+	4	402	c.369G>A	c.(367-369)TCG>TCA	p.S123S		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	hypothetical protein LOC121053	123											0																		---	---	---	---
POLR3B	55703	broad.mit.edu	37	12	106853057	106853057	+	Silent	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:106853057T>G	uc001tlp.2	+	22	2703	c.2481T>G	c.(2479-2481)CTT>CTG	p.L827L	POLR3B_uc001tlq.2_Silent_p.L769L	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN	DNA-directed RNA polymerase III B isoform 1	827					innate immune response|positive regulation of 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	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---
CMKLR1	1240	broad.mit.edu	37	12	108685895	108685895	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:108685895A>G	uc009zuw.2	-	3	1036	c.845T>C	c.(844-846)CTA>CCA	p.L282P	CMKLR1_uc001tmw.2_Missense_Mutation_p.L282P|CMKLR1_uc001tmv.2_Missense_Mutation_p.L280P|CMKLR1_uc009zuv.2_Missense_Mutation_p.L282P	NM_001142345	NP_001135817	Q99788	CML1_HUMAN	chemokine-like receptor 1 isoform a	282	Helical; Name=6; (Potential).				chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			lung(3)|ovary(1)|pancreas(1)	5																		---	---	---	---
SSH1	54434	broad.mit.edu	37	12	109181948	109181948	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109181948G>A	uc001tnm.2	-	15	3053	c.2966C>T	c.(2965-2967)ACG>ATG	p.T989M	SSH1_uc001tnl.2_Missense_Mutation_p.T677M	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	989	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4																		---	---	---	---
SSH1	54434	broad.mit.edu	37	12	109182915	109182915	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109182915G>A	uc001tnm.2	-	15	2086	c.1999C>T	c.(1999-2001)CGA>TGA	p.R667*	SSH1_uc001tnl.2_Nonsense_Mutation_p.R355*	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	slingshot 1 isoform 1	667					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(4)	4																		---	---	---	---
DAO	1610	broad.mit.edu	37	12	109278977	109278977	+	Splice_Site	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109278977G>A	uc001tnr.3	+	2	347	c.194_splice	c.e2+1	p.A65_splice	DAO_uc001tnq.3_Splice_Site_p.A65_splice|DAO_uc009zvb.2_Splice_Site|DAO_uc001tns.3_Splice_Site	NM_001917	NP_001908			D-amino-acid oxidase						glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			ovary(1)|skin(1)	2																		---	---	---	---
SVOP	55530	broad.mit.edu	37	12	109332674	109332674	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109332674C>T	uc010sxh.1	-	8	998	c.826G>A	c.(826-828)GCC>ACC	p.A276T		NM_018711	NP_061181	Q8N4V2	SVOP_HUMAN	SV2 related protein	276	Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity				0																		---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109924288	109924288	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:109924288T>A	uc001top.2	+	6	958	c.355T>A	c.(355-357)TCC>ACC	p.S119T	UBE3B_uc001toq.2_Missense_Mutation_p.S119T|UBE3B_uc001tol.1_Missense_Mutation_p.S119T|UBE3B_uc001tom.2_Missense_Mutation_p.S119T|UBE3B_uc001ton.2_Missense_Mutation_p.S119T|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.S119T|UBE3B_uc001tor.2_Missense_Mutation_p.S119T	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	119					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			ovary(2)|lung(2)	4																		---	---	---	---
GIT2	9815	broad.mit.edu	37	12	110371863	110371863	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110371863G>A	uc001tps.2	-	19	2196	c.2031C>T	c.(2029-2031)CAC>CAT	p.H677H	TCHP_uc001tpo.1_Intron|GIT2_uc001tpr.2_Intron|GIT2_uc001tpq.2_Silent_p.H647H|GIT2_uc001tpv.2_Silent_p.H599H|GIT2_uc001tpu.2_Silent_p.H597H|GIT2_uc001tpt.2_Silent_p.H549H|GIT2_uc010sxu.1_Silent_p.H585H	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	677					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1																OREG0022113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
ATP2A2	488	broad.mit.edu	37	12	110765359	110765359	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110765359G>A	uc001tqk.3	+	8	1195	c.632G>A	c.(631-633)GGT>GAT	p.G211D	ATP2A2_uc001tql.3_Missense_Mutation_p.G211D|ATP2A2_uc010sxy.1_Missense_Mutation_p.G184D	NM_170665	NP_733765	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, slow twitch 2 isoform	211	Cytoplasmic (By similarity).		G -> D (in DD; severe form).		ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			ovary(3)|skin(1)	4																		---	---	---	---
ATXN2	6311	broad.mit.edu	37	12	111953972	111953972	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:111953972C>T	uc001tsj.2	-	10	2003	c.1841G>A	c.(1840-1842)CGC>CAC	p.R614H	ATXN2_uc001tsh.2_Missense_Mutation_p.R349H|ATXN2_uc001tsi.2_Missense_Mutation_p.R325H|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsm.1_Missense_Mutation_p.R349H	NM_002973	NP_002964	Q99700	ATX2_HUMAN	ataxin 2	614	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			ovary(1)|breast(1)	2																		---	---	---	---
NAA25	80018	broad.mit.edu	37	12	112528572	112528572	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:112528572A>C	uc001ttm.2	-	3	261	c.241T>G	c.(241-243)TCA>GCA	p.S81A	NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.S53A|NAA25_uc009zwa.1_Missense_Mutation_p.S81A	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	mitochondrial distribution and morphology 20	81	TPR 3.					cytoplasm	protein binding			ovary(1)|breast(1)|pancreas(1)	3																		---	---	---	---
RPH3A	22895	broad.mit.edu	37	12	113328684	113328684	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113328684C>T	uc010syl.1	+	19	2013	c.1651C>T	c.(1651-1653)CGT>TGT	p.R551C	RPH3A_uc001ttz.2_Missense_Mutation_p.R551C|RPH3A_uc001tty.2_Missense_Mutation_p.R547C|RPH3A_uc009zwe.1_Missense_Mutation_p.R546C|RPH3A_uc010sym.1_Missense_Mutation_p.R502C|RPH3A_uc001tua.2_Missense_Mutation_p.R311C	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog isoform 1	551					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			ovary(3)|central_nervous_system(2)|skin(2)	7				BRCA - Breast invasive adenocarcinoma(302;0.00453)														---	---	---	---
OAS1	4938	broad.mit.edu	37	12	113354353	113354353	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113354353C>T	uc001tud.2	+	4	800	c.694C>T	c.(694-696)CTG>TTG	p.L232L	OAS1_uc010syn.1_Silent_p.L231L|OAS1_uc010syo.1_3'UTR|OAS1_uc001tub.2_Silent_p.L232L|OAS1_uc001tuc.2_Silent_p.L232L|OAS1_uc009zwf.2_Silent_p.L231L	NM_016816	NP_058132	P00973	OAS1_HUMAN	2',5'-oligoadenylate synthetase 1 isoform 1	232					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			ovary(2)	2																		---	---	---	---
OAS3	4940	broad.mit.edu	37	12	113405786	113405786	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113405786G>A	uc001tug.2	+	14	2998	c.2911G>A	c.(2911-2913)GGG>AGG	p.G971R		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	2'-5'oligoadenylate synthetase 3	971	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			central_nervous_system(1)	1																		---	---	---	---
DTX1	1840	broad.mit.edu	37	12	113496004	113496004	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113496004C>T	uc001tuk.1	+	1	343	c.7C>T	c.(7-9)CGG>TGG	p.R3W		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	3					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
DTX1	1840	broad.mit.edu	37	12	113531347	113531347	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113531347T>C	uc001tuk.1	+	4	1343	c.1007T>C	c.(1006-1008)ATG>ACG	p.M336T		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	deltex homolog 1	336	Pro-rich.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			lung(2)|ovary(1)|central_nervous_system(1)	4																		---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113553730	113553730	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113553730C>T	uc001tum.1	-						RASAL1_uc010syp.1_Intron|RASAL1_uc001tul.2_Intron|RASAL1_uc001tun.1_Intron|RASAL1_uc010syq.1_Intron|RASAL1_uc001tuo.3_Intron|RASAL1_uc010syr.1_Intron	NM_004658	NP_004649			RAS protein activator like 1						intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			ovary(2)|skin(2)	4																		---	---	---	---
DDX54	79039	broad.mit.edu	37	12	113603449	113603449	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113603449C>T	uc001tup.2	-	14	1747	c.1719G>A	c.(1717-1719)GCG>GCA	p.A573A	DDX54_uc001tuq.3_Silent_p.A573A	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	573					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																		---	---	---	---
C12orf52	84934	broad.mit.edu	37	12	113629577	113629577	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113629577A>G	uc001tur.1	+	4	1233	c.765A>G	c.(763-765)CCA>CCG	p.P255P	C12orf52_uc009zwg.1_Silent_p.P252P|C12orf52_uc001tus.1_Silent_p.P255P|C12orf52_uc001tut.1_Silent_p.P279P	NM_032848	NP_116237	Q96K30	RITA_HUMAN	hypothetical protein LOC84934	255	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding				0																		---	---	---	---
IQCD	115811	broad.mit.edu	37	12	113633672	113633672	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113633672G>A	uc001tuu.2	-	3	924	c.752C>T	c.(751-753)GCT>GTT	p.A251V		NM_138451	NP_612460	Q96DY2	IQCD_HUMAN	IQ motif containing D	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(1)	1																		---	---	---	---
TPCN1	53373	broad.mit.edu	37	12	113733834	113733834	+	Missense_Mutation	SNP	G	A	A	rs144203904	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113733834G>A	uc001tuw.2	+	28	2701	c.2404G>A	c.(2404-2406)GCC>ACC	p.A802T	TPCN1_uc001tux.2_Missense_Mutation_p.A874T|TPCN1_uc010syu.1_RNA	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	802	Cytoplasmic (Potential).					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			skin(2)|ovary(1)	3																		---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116399182	116399182	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:116399182G>A	uc001tvw.2	-	31	6577	c.6522C>T	c.(6520-6522)AAC>AAT	p.N2174N		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2174					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)														---	---	---	---
MED13L	23389	broad.mit.edu	37	12	116429759	116429759	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:116429759G>A	uc001tvw.2	-	17	3055	c.3000C>T	c.(2998-3000)AAC>AAT	p.N1000N		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1000					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	8	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)														---	---	---	---
FBXO21	23014	broad.mit.edu	37	12	117584029	117584029	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117584029G>A	uc001twk.2	-	12	1789	c.1750C>T	c.(1750-1752)CGC>TGC	p.R584C	FBXO21_uc001twj.2_Missense_Mutation_p.R577C|FBXO21_uc009zwq.2_Missense_Mutation_p.R517C	NM_033624	NP_296373	O94952	FBX21_HUMAN	F-box only protein 21 isoform 1	584					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)														---	---	---	---
FBXO21	23014	broad.mit.edu	37	12	117595667	117595667	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117595667C>T	uc001twk.2	-						FBXO21_uc001twj.2_Intron|FBXO21_uc009zwq.2_Intron|FBXO21_uc001twl.1_Intron	NM_033624	NP_296373			F-box only protein 21 isoform 1						ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)														---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117723956	117723956	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117723956G>A	uc001twm.1	-	6	1929	c.1243C>T	c.(1243-1245)CGG>TGG	p.R415W		NM_000620	NP_000611	P29475	NOS1_HUMAN	nitric oxide synthase 1, neuronal	415					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)													---	---	---	---
NOS1	4842	broad.mit.edu	37	12	117749264	117749264	+	Intron	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:117749264C>A	uc001twm.1	-							NM_000620	NP_000611			nitric oxide synthase 1, neuronal						multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			ovary(3)|skin(3)|pancreas(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)													---	---	---	---
CIT	11113	broad.mit.edu	37	12	120156546	120156546	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120156546G>T	uc001txi.1	-	30	3888	c.3835C>A	c.(3835-3837)CTT>ATT	p.L1279I	CIT_uc001txh.1_Missense_Mutation_p.L798I|CIT_uc001txj.1_Missense_Mutation_p.L1321I	NM_007174	NP_009105	O14578	CTRO_HUMAN	citron	1279	Potential.|Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)														---	---	---	---
RAB35	11021	broad.mit.edu	37	12	120536951	120536951	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120536951G>A	uc001txm.1	-	4	380	c.235C>T	c.(235-237)CGG>TGG	p.R79W	RAB35_uc010szg.1_5'UTR|RAB35_uc009zww.1_5'UTR|RAB35_uc010szh.1_Missense_Mutation_p.R79W	NM_006861	NP_006852	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	79					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding				0	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)														---	---	---	---
MSI1	4440	broad.mit.edu	37	12	120784005	120784005	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120784005G>A	uc001tye.1	-	13	1044	c.980C>T	c.(979-981)TCG>TTG	p.S327L		NM_002442	NP_002433	O43347	MSI1H_HUMAN	musashi 1	327					nervous system development	cytoplasm|nucleus	nucleotide binding			central_nervous_system(2)|breast(1)	3	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---
C12orf43	64897	broad.mit.edu	37	12	121442280	121442280	+	Silent	SNP	G	A	A	rs139203717		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121442280G>A	uc001tzh.1	-	6	488	c.465C>T	c.(463-465)GAC>GAT	p.D155D	C12orf43_uc009zxa.1_Silent_p.D186D|C12orf43_uc010szo.1_Silent_p.D114D|C12orf43_uc010szp.1_Silent_p.D145D|C12orf43_uc001tzi.1_Silent_p.D156D	NM_022895	NP_075046	Q96C57	CL043_HUMAN	hypothetical protein LOC64897	155											0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---
VPS37B	79720	broad.mit.edu	37	12	123351700	123351700	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123351700C>T	uc001udl.2	-	4	924	c.821G>A	c.(820-822)CGG>CAG	p.R274Q		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37B	274	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane					0	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)														---	---	---	---
SNRNP35	11066	broad.mit.edu	37	12	123950395	123950395	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:123950395G>A	uc001ufb.1	+	2	424	c.308G>A	c.(307-309)CGT>CAT	p.R103H	SNRNP35_uc010tar.1_Missense_Mutation_p.R108H|SNRNP35_uc009zxz.2_Missense_Mutation_p.R108H|SNRNP35_uc001ufc.1_Intron	NM_022717	NP_073208	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	103	RRM.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding				0																		---	---	---	---
UBC	7316	broad.mit.edu	37	12	125398244	125398244	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125398244T>A	uc001ugs.3	-	2	522	c.74A>T	c.(73-75)AAT>ATT	p.N25I	UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.N25I|UBC_uc001ugt.2_Missense_Mutation_p.N25I|UBC_uc001ugv.2_Missense_Mutation_p.N25I|UBC_uc001ugw.2_5'UTR|UBC_uc009zyf.1_RNA	NM_021009	NP_066289	P0CG48	UBC_HUMAN	ubiquitin C	25	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			ovary(2)	2	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)														---	---	---	---
DHX37	57647	broad.mit.edu	37	12	125438714	125438714	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125438714G>A	uc001ugy.2	-	19	2596	c.2497C>T	c.(2497-2499)CGG>TGG	p.R833W	DHX37_uc001ugz.1_5'Flank	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	833							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			skin(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)														---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130926716	130926716	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130926716G>A	uc001uil.2	-	8	1294	c.1130C>T	c.(1129-1131)TCG>TTG	p.S377L	RIMBP2_uc001uim.2_Missense_Mutation_p.S285L|RIMBP2_uc001uin.1_Missense_Mutation_p.S36L	NM_015347	NP_056162	O15034	RIMB2_HUMAN	RIM-binding protein 2	377	Fibronectin type-III 1.					cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)														---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130963448	130963448	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:130963448G>A	uc001uil.2	-						RIMBP2_uc001uim.2_Intron	NM_015347	NP_056162			RIM-binding protein 2							cell junction|synapse				upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)														---	---	---	---
SFRS8	6433	broad.mit.edu	37	12	132238955	132238955	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132238955C>T	uc001uja.1	+	9	1505	c.1365C>T	c.(1363-1365)GAC>GAT	p.D455D	SFRS8_uc010tbn.1_Silent_p.D455D|SFRS8_uc001ujb.1_Silent_p.D248D|SFRS8_uc001uiz.1_Silent_p.D329D	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	455					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)														---	---	---	---
MMP17	4326	broad.mit.edu	37	12	132326280	132326280	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132326280C>T	uc001ujc.1	+	5	917	c.818C>T	c.(817-819)CCG>CTG	p.P273L	MMP17_uc001ujd.1_Missense_Mutation_p.P189L	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	273					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)														---	---	---	---
MMP17	4326	broad.mit.edu	37	12	132329675	132329675	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132329675C>T	uc001ujc.1	+	7	1080	c.981C>T	c.(979-981)GAC>GAT	p.D327D	MMP17_uc001ujd.1_Silent_p.D243D	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	matrix metalloproteinase 17 preproprotein	327					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)														---	---	---	---
ULK1	8408	broad.mit.edu	37	12	132399752	132399752	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132399752C>T	uc001uje.2	+	17	1766	c.1498C>T	c.(1498-1500)CGG>TGG	p.R500W		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	500					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)														---	---	---	---
ULK1	8408	broad.mit.edu	37	12	132402081	132402081	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132402081C>T	uc001uje.2	+	22	2576	c.2308C>T	c.(2308-2310)CGC>TGC	p.R770C		NM_003565	NP_003556	O75385	ULK1_HUMAN	Unc-51-like kinase 1	770					autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)														---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547129	132547129	+	Silent	SNP	G	A	A	rs138819442	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132547129G>A	uc001ujn.2	+	46	8252	c.8217G>A	c.(8215-8217)CAG>CAA	p.Q2739Q	EP400_uc001ujl.2_Silent_p.Q2738Q|EP400_uc001ujm.2_Silent_p.Q2658Q|EP400_uc001ujp.2_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	E1A binding protein p400	2775	Poly-Gln.|Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)														---	---	---	---
DDX51	317781	broad.mit.edu	37	12	132624481	132624481	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:132624481C>T	uc001ujy.3	-							NM_175066	NP_778236			DEAD (Asp-Glu-Ala-Asp) box polypeptide 51						rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			lung(1)|pancreas(1)	2	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)														---	---	---	---
PGAM5	192111	broad.mit.edu	37	12	133291446	133291446	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133291446G>A	uc009zyv.2	+	2	221	c.194G>A	c.(193-195)CGA>CAA	p.R65Q	PGAM5_uc010tbr.1_RNA|PGAM5_uc001uku.2_Missense_Mutation_p.R65Q	NM_138575	NP_612642	Q96HS1	PGAM5_HUMAN	phosphoglycerate mutase family member 5	65						integral to membrane|mitochondrial outer membrane	phosphoprotein phosphatase activity				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.89e-08)|Epithelial(86;1.14e-07)|all cancers(50;3.57e-06)														---	---	---	---
ANKLE2	23141	broad.mit.edu	37	12	133331277	133331277	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:133331277G>A	uc001ukx.2	-	2	691	c.624C>T	c.(622-624)GAC>GAT	p.D208D	ANKLE2_uc001uky.3_Silent_p.D146D	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	208						cytoplasm|integral to membrane|nuclear envelope					0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)														---	---	---	---
MPHOSPH8	54737	broad.mit.edu	37	13	20216355	20216355	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20216355A>G	uc001umh.2	+	2	323	c.314A>G	c.(313-315)GAA>GGA	p.E105G	MPHOSPH8_uc001umf.1_Missense_Mutation_p.E105G|MPHOSPH8_uc001umg.2_Missense_Mutation_p.E105G	NM_017520	NP_059990	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	105	Chromo.				cell cycle	cytoplasm|nucleus					0		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)														---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20426165	20426165	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20426165T>A	uc010tcn.1	-	3	421	c.156A>T	c.(154-156)GAA>GAT	p.E52D	ZMYM5_uc001umm.1_Translation_Start_Site|ZMYM5_uc001umn.2_Missense_Mutation_p.E52D|ZMYM5_uc001umo.2_Missense_Mutation_p.E52D	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	zinc finger protein 237 isoform 3	52						nucleus	zinc ion binding				0		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)														---	---	---	---
ZMYM2	7750	broad.mit.edu	37	13	20567633	20567633	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:20567633C>T	uc001umr.2	+	4	719	c.421C>T	c.(421-423)CGA>TGA	p.R141*	ZMYM2_uc001umq.2_Nonsense_Mutation_p.R141*|ZMYM2_uc001ums.2_Nonsense_Mutation_p.R141*|ZMYM2_uc001umt.2_Nonsense_Mutation_p.R141*|ZMYM2_uc009zzn.1_Nonsense_Mutation_p.R163*	NM_003453	NP_003444	Q9UBW7	ZMYM2_HUMAN	zinc finger protein 198	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			lung(3)|ovary(2)|prostate(1)	6		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)														---	---	---	---
SKA3	221150	broad.mit.edu	37	13	21746558	21746558	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:21746558T>C	uc001unt.2	-	3	345	c.251A>G	c.(250-252)GAA>GGA	p.E84G	SKA3_uc001unv.2_Missense_Mutation_p.E2G|SKA3_uc001unu.2_Missense_Mutation_p.E84G	NM_145061	NP_659498	Q8IX90	SKA3_HUMAN	SKA3	84					cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytoplasm|spindle microtubule	protein binding				0																		---	---	---	---
FGF9	2254	broad.mit.edu	37	13	22255181	22255181	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:22255181G>A	uc001uog.2	+	2	1115	c.278G>A	c.(277-279)GGC>GAC	p.G93D		NM_002010	NP_002001	P31371	FGF9_HUMAN	fibroblast growth factor 9 precursor	93					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding				0		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)														---	---	---	---
PARP4	143	broad.mit.edu	37	13	25017846	25017846	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25017846C>T	uc001upl.2	-	28	3495	c.3389G>A	c.(3388-3390)CGA>CAA	p.R1130Q		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1130					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)|skin(1)	4		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)														---	---	---	---
FAM123A	219287	broad.mit.edu	37	13	25745465	25745465	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25745465G>A	uc001uqb.2	-	1	393	c.293C>T	c.(292-294)ACG>ATG	p.T98M	FAM123A_uc001uqa.2_Missense_Mutation_p.T98M|FAM123A_uc001uqc.2_Missense_Mutation_p.T98M	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	hypothetical protein LOC219287 isoform 1	98	Gly-rich.									ovary(2)|large_intestine(1)|lung(1)	4		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)														---	---	---	---
WASF3	10810	broad.mit.edu	37	13	27256954	27256954	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:27256954G>A	uc001uqv.2	+	9	1419	c.1194G>A	c.(1192-1194)CCG>CCA	p.P398P	WASF3_uc001uqw.2_Silent_p.P395P	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	398	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			pancreas(1)	1	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)														---	---	---	---
USP12	219333	broad.mit.edu	37	13	27690720	27690720	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:27690720G>A	uc001uqy.2	-	2	315	c.62C>T	c.(61-63)TCG>TTG	p.S21L		NM_182488	NP_872294	O75317	UBP12_HUMAN	ubiquitin thiolesterase 12	21					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)	1		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32758750	32758750	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32758750G>A	uc001utx.2	+	25	3564	c.3068G>A	c.(3067-3069)CGA>CAA	p.R1023Q	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1023					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)														---	---	---	---
FRY	10129	broad.mit.edu	37	13	32808830	32808830	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:32808830G>A	uc001utx.2	+	42	6143	c.5647G>A	c.(5647-5649)GCA>ACA	p.A1883T	FRY_uc010tdw.1_RNA	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	furry homolog	1883					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)														---	---	---	---
PDS5B	23047	broad.mit.edu	37	13	33273992	33273992	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33273992G>A	uc010abf.2	+	16	1884	c.1726G>A	c.(1726-1728)GCT>ACT	p.A576T	PDS5B_uc010abg.2_RNA	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog	576					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			ovary(2)|lung(1)|pancreas(1)	4		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)														---	---	---	---
STARD13	90627	broad.mit.edu	37	13	33704015	33704015	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:33704015G>A	uc001uuw.2	-	5	925	c.799C>T	c.(799-801)CGA>TGA	p.R267*	STARD13_uc001uuu.2_Nonsense_Mutation_p.R259*|STARD13_uc001uuv.2_Nonsense_Mutation_p.R149*|STARD13_uc001uux.2_Nonsense_Mutation_p.R232*|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Nonsense_Mutation_p.R252*	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain	267					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			ovary(2)|pancreas(1)|skin(1)	4	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)														---	---	---	---
DCLK1	9201	broad.mit.edu	37	13	36700037	36700037	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:36700037G>A	uc001uvf.2	-	2	471	c.238C>T	c.(238-240)CGG>TGG	p.R80W		NM_004734	NP_004725	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	80	Doublecortin 1.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			stomach(6)|ovary(2)|skin(1)	9		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)														---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39425239	39425239	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39425239G>T	uc001uwv.2	+	10	7045	c.6736G>T	c.(6736-6738)GCT>TCT	p.A2246S	FREM2_uc001uww.2_Missense_Mutation_p.A332S	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	2246	Extracellular (Potential).|Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)														---	---	---	---
GTF2F2	2963	broad.mit.edu	37	13	45781604	45781604	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:45781604G>A	uc001uzw.2	+	5	510	c.350G>A	c.(349-351)CGA>CAA	p.R117Q	GTF2F2_uc001uzv.2_Missense_Mutation_p.R117Q	NM_004128	NP_004119	P13984	T2FB_HUMAN	general transcription factor IIF, polypeptide 2,	117					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	microtubule cytoskeleton|transcription factor TFIIF complex	ATP binding|ATP-dependent helicase activity|DNA binding|protein binding				0		Lung NSC(96;0.00115)|Prostate(109;0.00578)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000647)														---	---	---	---
RB1	5925	broad.mit.edu	37	13	48936983	48936983	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:48936983C>T	uc001vcb.2	+	8	917	c.751C>T	c.(751-753)CGA>TGA	p.R251*	RB1_uc010acs.1_RNA|RB1_uc010act.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	251					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(5)|p.R251*(3)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			---	---	---	---
KPNA3	3839	broad.mit.edu	37	13	50306789	50306789	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:50306789G>A	uc001vdj.2	-	5	654	c.239C>T	c.(238-240)GCC>GTC	p.A80V		NM_002267	NP_002258	O00505	IMA3_HUMAN	karyopherin alpha 3	80	ARM 1; truncated.				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity				0		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)														---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60498968	60498968	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:60498968G>A	uc001vht.2	-	18	2330	c.2111C>T	c.(2110-2112)TCG>TTG	p.S704L	DIAPH3_uc001vhu.2_Missense_Mutation_p.S441L|DIAPH3_uc001vhv.2_Missense_Mutation_p.S282L	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	diaphanous homolog 3 isoform a	704	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			ovary(2)	2		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)														---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67477675	67477675	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:67477675C>T	uc001vik.2	-	3	3791	c.3099G>A	c.(3097-3099)ACG>ACA	p.T1033T	PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Intron|PCDH9_uc010thl.1_Silent_p.T1033T	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	protocadherin 9 isoform 1 precursor	1033	Cytoplasmic (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|pancreas(1)|skin(1)	6		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)														---	---	---	---
KLHL1	57626	broad.mit.edu	37	13	70293601	70293601	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:70293601C>A	uc001vip.2	-	9	2709	c.1915G>T	c.(1915-1917)GGT>TGT	p.G639C	KLHL1_uc010thm.1_Missense_Mutation_p.G578C	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	kelch-like 1 protein	639	Kelch 4.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding				0		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)														---	---	---	---
C13orf34	79866	broad.mit.edu	37	13	73303213	73303213	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:73303213T>A	uc001viv.1	+	2	254	c.135T>A	c.(133-135)TTT>TTA	p.F45L	C13orf37_uc001viu.2_5'Flank|C13orf34_uc010thq.1_5'UTR|C13orf34_uc010aen.1_Missense_Mutation_p.F120L|C13orf34_uc010thr.1_Nonsense_Mutation_p.L11*|C13orf34_uc001viw.1_Missense_Mutation_p.F45L	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN	aurora borealis	45					cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding				0		Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.000227)														---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75900464	75900464	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:75900464C>T	uc001vjl.1	-	10	2249	c.1902G>A	c.(1900-1902)CCG>CCA	p.P634P	TBC1D4_uc010aer.2_Silent_p.P634P|TBC1D4_uc010aes.2_Silent_p.P634P	NM_014832	NP_055647	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	634						cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)														---	---	---	---
TBC1D4	9882	broad.mit.edu	37	13	75933898	75933898	+	Intron	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:75933898T>A	uc001vjl.1	-						TBC1D4_uc010aer.2_Intron|TBC1D4_uc010aes.2_Intron	NM_014832	NP_055647			TBC1 domain family, member 4							cytoplasm	Rab GTPase activator activity			ovary(4)|central_nervous_system(1)|skin(1)	6		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)														---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77799624	77799624	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77799624G>A	uc001vkf.2	-	20	2780	c.2689C>T	c.(2689-2691)CGA>TGA	p.R897*	MYCBP2_uc010aev.2_Nonsense_Mutation_p.R301*	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	897	RCC1 3.				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)														---	---	---	---
SLITRK5	26050	broad.mit.edu	37	13	88329083	88329083	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:88329083G>A	uc001vln.2	+	2	1659	c.1440G>A	c.(1438-1440)CTG>CTA	p.L480L	SLITRK5_uc010tic.1_Silent_p.L239L	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	480	Extracellular (Potential).					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)																	---	---	---	---
DZIP1	22873	broad.mit.edu	37	13	96293698	96293698	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:96293698G>A	uc001vmk.2	-	5	1300	c.448C>T	c.(448-450)CGC>TGC	p.R150C	DZIP1_uc001vml.2_Missense_Mutation_p.R150C|DZIP1_uc001vmn.2_Missense_Mutation_p.R139C	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	DAZ interacting protein 1 isoform 2	150					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)															---	---	---	---
UGGT2	55757	broad.mit.edu	37	13	96665656	96665656	+	Missense_Mutation	SNP	C	T	T	rs142967468		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:96665656C>T	uc001vmt.2	-	5	735	c.565G>A	c.(565-567)GAA>AAA	p.E189K	UGGT2_uc010afo.2_RNA|UGGT2_uc001vmv.2_Missense_Mutation_p.E189K|UGGT2_uc010afp.2_Missense_Mutation_p.E189K	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	UDP-glucose ceramide glucosyltransferase-like 2	189					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			ovary(2)|central_nervous_system(1)	3																		---	---	---	---
MBNL2	10150	broad.mit.edu	37	13	98009776	98009776	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:98009776A>G	uc010aft.2	+	6	1661	c.845A>G	c.(844-846)CAA>CGA	p.Q282R	MBNL2_uc001vmz.2_Missense_Mutation_p.Q282R|MBNL2_uc001vna.2_Missense_Mutation_p.Q282R|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Missense_Mutation_p.Q127R|MBNL2_uc001vnc.2_Missense_Mutation_p.Q15R	NM_144778	NP_659002	Q5VZF2	MBNL2_HUMAN	muscleblind-like 2 isoform 1	282					mRNA processing|regulation of RNA splicing|RNA splicing	cytoplasm|nucleus	RNA binding|zinc ion binding				0	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.218)															---	---	---	---
DOCK9	23348	broad.mit.edu	37	13	99520175	99520175	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:99520175G>A	uc001vnt.2	-						DOCK9_uc001vnw.2_Intron|DOCK9_uc001vnv.1_Intron|DOCK9_uc010tir.1_Intron|DOCK9_uc010tis.1_Intron|DOCK9_uc010tit.1_Intron|DOCK9_uc010tiq.1_Intron|DOCK9_uc010afu.1_Intron	NM_015296	NP_056111			dedicator of cytokinesis 9 isoform a						blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			central_nervous_system(1)	1	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101287179	101287179	+	Silent	SNP	G	A	A	rs138758332		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101287179G>A	uc001vou.2	-	11	1489	c.1329C>T	c.(1327-1329)GCC>GCT	p.A443A	TMTC4_uc001vot.2_Silent_p.A462A|TMTC4_uc010tja.1_Silent_p.A332A|TMTC4_uc001vov.1_Silent_p.A188A|TMTC4_uc001vow.1_Silent_p.A226A	NM_001079669	NP_001073137	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat	443	Helical; (Potential).					integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
TMTC4	84899	broad.mit.edu	37	13	101289965	101289965	+	Intron	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:101289965A>T	uc001vou.2	-						TMTC4_uc001vot.2_Intron|TMTC4_uc010tja.1_Intron|TMTC4_uc001vov.1_Missense_Mutation_p.S2T|TMTC4_uc001vow.1_Intron	NM_001079669	NP_001073137			transmembrane and tetratricopeptide repeat							integral to membrane	binding			ovary(2)|breast(1)	3	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)																	---	---	---	---
NALCN	259232	broad.mit.edu	37	13	102029262	102029262	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:102029262G>A	uc001vox.1	-						NALCN_uc001voy.2_Intron|NALCN_uc001voz.2_Intron|NALCN_uc001vpa.2_Intron	NM_052867	NP_443099			voltage gated channel like 1							integral to membrane	sodium channel activity|voltage-gated ion channel activity			ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)																	---	---	---	---
KDELC1	79070	broad.mit.edu	37	13	103449325	103449325	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:103449325C>A	uc001vpq.3	-	2	601	c.217G>T	c.(217-219)GTG>TTG	p.V73L	KDELC1_uc001vpr.3_5'UTR|BIVM_uc001vps.2_5'Flank|BIVM_uc010agc.2_5'Flank	NM_024089	NP_076994	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1 precursor	73	Filamin.					endoplasmic reticulum lumen				ovary(1)	1	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)																	---	---	---	---
ARHGEF7	8874	broad.mit.edu	37	13	111935585	111935585	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:111935585G>A	uc001vrs.2	+	17	2138	c.1888G>A	c.(1888-1890)GGC>AGC	p.G630S	ARHGEF7_uc001vrr.2_Missense_Mutation_p.G609S|ARHGEF7_uc001vrt.2_Missense_Mutation_p.G580S|ARHGEF7_uc010tjn.1_RNA|ARHGEF7_uc001vru.1_Missense_Mutation_p.G452S|ARHGEF7_uc001vrv.3_Missense_Mutation_p.G452S|ARHGEF7_uc001vrw.3_Missense_Mutation_p.G452S|ARHGEF7_uc001vrx.3_Missense_Mutation_p.G452S|ARHGEF7_uc010tjo.1_Missense_Mutation_p.G527S|ARHGEF7_uc010tjp.1_Missense_Mutation_p.G374S|ARHGEF7_uc001vry.1_Missense_Mutation_p.G46S|uc001vrz.1_5'Flank	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	PAK-interacting exchange factor beta isoform c	630					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)															---	---	---	---
TUBGCP3	10426	broad.mit.edu	37	13	113213653	113213653	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113213653G>A	uc001vse.1	-	4	500	c.313C>T	c.(313-315)CGC>TGC	p.R105C	TUBGCP3_uc010tjq.1_Missense_Mutation_p.R105C|TUBGCP3_uc001vsf.2_Missense_Mutation_p.R105C|TUBGCP3_uc001vsg.1_Missense_Mutation_p.R105C	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	105					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)	1	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)																	---	---	---	---
ADPRHL1	113622	broad.mit.edu	37	13	114088045	114088045	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114088045G>A	uc001vtq.1	-						ADPRHL1_uc001vtp.1_Intron	NM_138430	NP_612439			ADP-ribosylhydrolase like 1 isoform 1						protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)															---	---	---	---
DCUN1D2	55208	broad.mit.edu	37	13	114113678	114113678	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:114113678G>T	uc001vtr.1	-	6	688	c.649C>A	c.(649-651)CTG>ATG	p.L217M	DCUN1D2_uc001vts.1_RNA|DCUN1D2_uc010agw.1_Missense_Mutation_p.L84M	NM_001014283	NP_001014305	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain	217	DCUN1.										0	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)															---	---	---	---
ZNF828	283489	broad.mit.edu	37	13	115091245	115091245	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:115091245C>T	uc010ahb.2	+	3	2257	c.1928C>T	c.(1927-1929)GCG>GTG	p.A643V	ZNF828_uc001vuv.2_Missense_Mutation_p.A643V|ZNF828_uc010tko.1_Missense_Mutation_p.A643V	NM_001164144	NP_001157616	Q96JM3	ZN828_HUMAN	zinc finger protein 828	643	Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding			ovary(2)	2	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_epithelial(44;0.122)|all_lung(25;0.123)	BRCA - Breast invasive adenocarcinoma(86;0.104)	OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197)														---	---	---	---
OR4M1	441670	broad.mit.edu	37	14	20248864	20248864	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20248864G>A	uc010tku.1	+	1	383	c.383G>A	c.(382-384)CGA>CAA	p.R128Q		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M,	128	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
OR4K2	390431	broad.mit.edu	37	14	20344587	20344587	+	Missense_Mutation	SNP	A	G	G	rs74036118	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20344587A>G	uc001vwh.1	+	1	161	c.161A>G	c.(160-162)CAC>CGC	p.H54R		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K,	54	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(2)	4	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---
RNASE11	122651	broad.mit.edu	37	14	21052301	21052301	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21052301G>A	uc010ahv.2	-	2	518	c.333C>T	c.(331-333)AAC>AAT	p.N111N	RNASE11_uc010ahx.2_Silent_p.N111N|RNASE11_uc010ahw.2_Silent_p.N111N|RNASE11_uc001vxs.2_Silent_p.N111N	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	111						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			ovary(3)	3	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)														---	---	---	---
METTL3	56339	broad.mit.edu	37	14	21968680	21968680	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:21968680C>T	uc001wbc.2	-	6	1353	c.1261G>A	c.(1261-1263)GTA>ATA	p.V421I	METTL3_uc001wbb.2_Missense_Mutation_p.V266I	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	methyltransferase like 3	421					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			pancreas(1)|skin(1)	2	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)														---	---	---	---
OR10G3	26533	broad.mit.edu	37	14	22038380	22038380	+	Missense_Mutation	SNP	G	A	A	rs148153211	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22038380G>A	uc010tmb.1	-	1	496	c.496C>T	c.(496-498)CGC>TGC	p.R166C		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G,	166	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|central_nervous_system(1)	2	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)														---	---	---	---
Unknown	0	broad.mit.edu	37	14	22749037	22749037	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:22749037G>A	uc001wbw.2	+						uc010aja.1_Intron|uc010tmk.1_Intron|uc010tmo.1_Intron|uc001wco.2_Intron|uc010aje.1_Intron|uc001wcp.2_Intron|uc001wcr.1_Intron|uc001wcs.1_Intron|uc010ajf.1_Intron|uc010ajg.1_Intron|uc001wcx.3_Intron|uc001wdd.2_Intron|uc010ajj.1_Intron|uc001wde.1_Intron|uc001wdf.2_Intron|uc010ajk.1_Intron|uc001wdg.1_Intron|uc010ajl.1_Intron|uc001wdj.2_Intron|uc010ajo.1_Intron|uc010ajp.1_Intron|uc010tmr.1_Missense_Mutation_p.A2T					SubName: Full=Alpha-chain C region; Flags: Fragment;																														---	---	---	---
RNF31	55072	broad.mit.edu	37	14	24618732	24618732	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24618732G>A	uc001wmn.1	+	6	998	c.749G>A	c.(748-750)CGT>CAT	p.R250H	PSME2_uc001wmj.2_5'Flank|PSME2_uc001wmk.2_5'Flank|RNF31_uc001wml.1_Missense_Mutation_p.R99H|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.R65H|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.2_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	250	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)														---	---	---	---
RNF31	55072	broad.mit.edu	37	14	24626606	24626606	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24626606C>T	uc001wmn.1	+	15	2850	c.2601C>T	c.(2599-2601)AAC>AAT	p.N867N	RNF31_uc001wml.1_Silent_p.N716N|RNF31_uc010alg.1_Silent_p.N626N|RNF31_uc001wmo.1_Silent_p.N334N|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_Silent_p.N51N	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	ring finger protein 31	867	IBR-type 2.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(1)|ovary(1)	2				GBM - Glioblastoma multiforme(265;0.00861)														---	---	---	---
REC8	9985	broad.mit.edu	37	14	24647327	24647327	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24647327C>T	uc001wmr.2	+	14	1322	c.895C>T	c.(895-897)CGC>TGC	p.R299C	REC8_uc001wms.2_Missense_Mutation_p.R299C	NM_005132	NP_005123	O95072	REC8_HUMAN	REC8 homolog	299	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm					0				GBM - Glioblastoma multiforme(265;0.00839)														---	---	---	---
RABGGTA	5875	broad.mit.edu	37	14	24738722	24738722	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24738722G>A	uc001wof.2	-	5	1028	c.606C>T	c.(604-606)CGC>CGT	p.R202R	RABGGTA_uc001woe.2_RNA|RABGGTA_uc001wog.2_Silent_p.R202R|RABGGTA_uc001woh.2_RNA|RABGGTA_uc001woi.2_RNA	NM_004581	NP_004572	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase alpha	202					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding				0				GBM - Glioblastoma multiforme(265;0.0184)														---	---	---	---
C14orf21	161424	broad.mit.edu	37	14	24773247	24773247	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24773247G>A	uc001wol.1	+	8	1474	c.1411G>A	c.(1411-1413)GTG>ATG	p.V471M	C14orf21_uc001wom.1_Missense_Mutation_p.V22M	NM_174913	NP_777573	Q86U38	CN021_HUMAN	hypothetical protein LOC161424	471							RNA binding			breast(2)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(265;0.0185)														---	---	---	---
ADCY4	196883	broad.mit.edu	37	14	24801132	24801132	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24801132G>A	uc001wov.2	-	4	537	c.531C>T	c.(529-531)AAC>AAT	p.N177N	ADCY4_uc001wow.2_Silent_p.N177N|ADCY4_uc010toh.1_Translation_Start_Site|ADCY4_uc001wox.2_Silent_p.N177N|ADCY4_uc001woy.2_Silent_p.N177N	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	177	Helical; (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)												OREG0022624	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
NFATC4	4776	broad.mit.edu	37	14	24843636	24843636	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24843636C>T	uc001wpc.2	+	6	2158	c.1837C>T	c.(1837-1839)CCA>TCA	p.P613S	NFATC4_uc010tok.1_Missense_Mutation_p.P676S|NFATC4_uc010tol.1_Missense_Mutation_p.P676S|NFATC4_uc010alr.2_Missense_Mutation_p.P676S|NFATC4_uc010als.2_3'UTR|NFATC4_uc010tom.1_Missense_Mutation_p.P626S|NFATC4_uc010ton.1_Missense_Mutation_p.P626S|NFATC4_uc010too.1_Missense_Mutation_p.P626S|NFATC4_uc010alt.2_Missense_Mutation_p.P645S|NFATC4_uc010top.1_Missense_Mutation_p.P645S|NFATC4_uc010toq.1_Missense_Mutation_p.P645S|NFATC4_uc010alu.2_3'UTR|NFATC4_uc010tor.1_Missense_Mutation_p.P613S|NFATC4_uc010tos.1_Missense_Mutation_p.P543S|NFATC4_uc010tot.1_Missense_Mutation_p.P601S|NFATC4_uc010tou.1_Missense_Mutation_p.P543S|NFATC4_uc010tov.1_Missense_Mutation_p.P601S|NFATC4_uc010tow.1_Missense_Mutation_p.P543S|NFATC4_uc010alv.2_Missense_Mutation_p.P601S|NFATC4_uc010tox.1_Missense_Mutation_p.P543S|NFATC4_uc001wpd.2_Missense_Mutation_p.P148S|NFATC4_uc010toy.1_Missense_Mutation_p.P148S|NFATC4_uc010toz.1_Missense_Mutation_p.P148S|NFATC4_uc010tpa.1_5'UTR|NFATC4_uc010tpb.1_5'UTR	NM_004554	NP_004545	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells,	613	IPT/TIG.				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)														---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30135384	30135384	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:30135384C>T	uc001wqh.2	-	3	615	c.434G>A	c.(433-435)CGT>CAT	p.R145H		NM_002742	NP_002733	Q15139	KPCD1_HUMAN	protein kinase D1	145					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			lung(3)|large_intestine(2)|ovary(2)|skin(1)	8	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)														---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36230206	36230206	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36230206G>A	uc001wti.2	-	6	767	c.376C>T	c.(376-378)CGG>TGG	p.R126W	RALGAPA1_uc001wtj.2_Missense_Mutation_p.R126W|RALGAPA1_uc010tpv.1_Missense_Mutation_p.R126W|RALGAPA1_uc010tpw.1_Missense_Mutation_p.R126W|RALGAPA1_uc001wtk.1_5'UTR	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1	126					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			ovary(3)|breast(1)	4																		---	---	---	---
CLEC14A	161198	broad.mit.edu	37	14	38724080	38724080	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:38724080G>A	uc001wum.1	-	1	1495	c.1148C>T	c.(1147-1149)ACG>ATG	p.T383M		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	383	Extracellular (Potential).					integral to membrane	sugar binding			ovary(3)|skin(1)	4	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)														---	---	---	---
MIA2	117153	broad.mit.edu	37	14	39717065	39717065	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:39717065G>A	uc001wux.2	+	4	1481	c.1287G>A	c.(1285-1287)ACG>ACA	p.T429T	MIA2_uc010amy.1_Silent_p.T360T	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	429						extracellular region				ovary(1)|breast(1)	2	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)														---	---	---	---
FANCM	57697	broad.mit.edu	37	14	45645327	45645327	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:45645327C>A	uc001wwd.3	+	14	3469	c.3370C>A	c.(3370-3372)CCA>ACA	p.P1124T	FANCM_uc010anf.2_Missense_Mutation_p.P1098T|FANCM_uc001wwe.3_Missense_Mutation_p.P660T|FANCM_uc010ang.2_Missense_Mutation_p.P338T	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1124					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			ovary(3)|lung(2)|breast(2)	7													Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
L2HGDH	79944	broad.mit.edu	37	14	50734515	50734515	+	Silent	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:50734515G>T	uc001wxu.2	-	8	1099	c.1020C>A	c.(1018-1020)CCC>CCA	p.P340P	L2HGDH_uc010tqn.1_Silent_p.P340P|L2HGDH_uc010tqo.1_Silent_p.P340P	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase precursor	340					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			ovary(2)	2	all_epithelial(31;0.000599)|Breast(41;0.0102)																	---	---	---	---
TXNDC16	57544	broad.mit.edu	37	14	52937396	52937396	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:52937396T>C	uc001wzs.2	-	15	1764	c.1315A>G	c.(1315-1317)ACA>GCA	p.T439A	TXNDC16_uc010tqu.1_Missense_Mutation_p.T434A|TXNDC16_uc010aoe.2_RNA	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16 isoform 1	439	Thioredoxin.				cell redox homeostasis	extracellular region					0	Breast(41;0.0716)																	---	---	---	---
DAAM1	23002	broad.mit.edu	37	14	59789836	59789836	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:59789836G>A	uc001xdz.1	+	6	792	c.667G>A	c.(667-669)GTG>ATG	p.V223M	DAAM1_uc001xea.1_Missense_Mutation_p.V223M|DAAM1_uc001xeb.1_Missense_Mutation_p.V223M	NM_014992	NP_055807	Q9Y4D1	DAAM1_HUMAN	dishevelled-associated activator of	223	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			ovary(1)	1				OV - Ovarian serous cystadenocarcinoma(108;0.165)														---	---	---	---
GPR135	64582	broad.mit.edu	37	14	59930747	59930747	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:59930747G>A	uc010apj.2	-	1	1313	c.1198C>T	c.(1198-1200)CGC>TGC	p.R400C	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	400	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)														---	---	---	---
GPR135	64582	broad.mit.edu	37	14	59931429	59931429	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:59931429C>T	uc010apj.2	-	1	631	c.516G>A	c.(514-516)GCG>GCA	p.A172A	GPR135_uc001xed.2_RNA	NM_022571	NP_072093	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	172	Helical; Name=5; (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity				0				OV - Ovarian serous cystadenocarcinoma(108;0.134)														---	---	---	---
PRKCH	5583	broad.mit.edu	37	14	61923899	61923899	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61923899C>T	uc001xfn.2	+	8	1271	c.966C>T	c.(964-966)CTC>CTT	p.L322L	PRKCH_uc010tsa.1_Silent_p.L161L	NM_006255	NP_006246	P24723	KPCL_HUMAN	protein kinase C, eta	322					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)												OREG0022720	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
PLEKHG3	26030	broad.mit.edu	37	14	65194559	65194559	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65194559C>T	uc001xho.1	+	2	479	c.210C>T	c.(208-210)AAC>AAT	p.N70N	PLEKHG3_uc001xhn.1_Silent_p.N70N|PLEKHG3_uc001xhp.2_Silent_p.N70N|PLEKHG3_uc010aqh.1_5'Flank	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	70					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)														---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65260238	65260238	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65260238C>T	uc001xht.2	-	13	2197	c.2143G>A	c.(2143-2145)GAG>AAG	p.E715K	SPTB_uc001xhr.2_Missense_Mutation_p.E715K|SPTB_uc001xhs.2_Missense_Mutation_p.E715K|SPTB_uc001xhu.2_Missense_Mutation_p.E715K	NM_000347	NP_000338	P11277	SPTB1_HUMAN	spectrin beta isoform b	715	Spectrin 5.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)														---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71205092	71205092	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71205092T>G	uc001xmm.2	-	8	1714	c.1714A>C	c.(1714-1716)ACC>CCC	p.T572P	MAP3K9_uc010ttk.1_Missense_Mutation_p.T309P|MAP3K9_uc001xmk.2_Missense_Mutation_p.T314P|MAP3K9_uc001xml.2_Missense_Mutation_p.T572P	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	572					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)														---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71206776	71206776	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71206776C>T	uc001xmm.2	-	7	1673	c.1673G>A	c.(1672-1674)CGC>CAC	p.R558H	MAP3K9_uc010ttk.1_Missense_Mutation_p.R295H|MAP3K9_uc001xmk.2_Missense_Mutation_p.R252H|MAP3K9_uc001xml.2_Missense_Mutation_p.R558H	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	558					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)														---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71209088	71209088	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71209088T>G	uc001xmm.2	-	6	1547	c.1547A>C	c.(1546-1548)AAC>ACC	p.N516T	MAP3K9_uc010ttk.1_Missense_Mutation_p.N253T|MAP3K9_uc001xmk.2_Missense_Mutation_p.N210T|MAP3K9_uc001xml.2_Missense_Mutation_p.N516T	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	516				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)														---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71227784	71227784	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71227784C>T	uc001xmm.2	-	3	936	c.936G>A	c.(934-936)ACG>ACA	p.T312T	MAP3K9_uc010ttk.1_Silent_p.T49T|MAP3K9_uc001xmk.2_Silent_p.T6T|MAP3K9_uc001xml.2_Silent_p.T312T	NM_033141	NP_149132	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase	312	Protein kinase.			T->A: Loss of threonine phosphorylation. Strongly impairs JNK activation.	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)														---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72139238	72139238	+	Silent	SNP	G	A	A	rs142798928		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:72139238G>A	uc001xms.2	+	9	3351	c.3003G>A	c.(3001-3003)GCG>GCA	p.A1001A	SIPA1L1_uc001xmt.2_Silent_p.A1001A|SIPA1L1_uc001xmu.2_Silent_p.A1001A|SIPA1L1_uc001xmv.2_Silent_p.A1001A|SIPA1L1_uc010ttm.1_Silent_p.A476A	NM_015556	NP_056371	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like	1001	PDZ.				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)														---	---	---	---
MLH3	27030	broad.mit.edu	37	14	75509072	75509072	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75509072C>T	uc001xrd.1	-						MLH3_uc001xre.1_Intron|MLH3_uc010tuy.1_Intron	NM_001040108	NP_001035197			mutL homolog 3 isoform 1						mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.00688)									MMR					---	---	---	---
TMEM63C	57156	broad.mit.edu	37	14	77708714	77708714	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77708714C>T	uc001xtf.2	+	14	1301	c.1089C>T	c.(1087-1089)GTC>GTT	p.V363V	TMEM63C_uc010asq.1_Silent_p.V363V	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	363						integral to membrane					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)														---	---	---	---
POMT2	29954	broad.mit.edu	37	14	77746241	77746241	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77746241C>T	uc001xti.2	-	18	2017	c.1816G>A	c.(1816-1818)GCC>ACC	p.A606T	POMT2_uc001xth.1_Missense_Mutation_p.A304T	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	606	Helical; (Potential).				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			ovary(1)	1			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)														---	---	---	---
C14orf145	145508	broad.mit.edu	37	14	81209453	81209453	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81209453C>T	uc001xux.2	-	18	2943	c.2772G>A	c.(2770-2772)GAG>GAA	p.E924E	C14orf145_uc010asz.1_RNA	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	924	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)														---	---	---	---
TSHR	7253	broad.mit.edu	37	14	81575006	81575006	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81575006G>A	uc001xvd.1	+						TSHR_uc001xvc.2_Missense_Mutation_p.R248H|TSHR_uc010tvs.1_Missense_Mutation_p.R269H	NM_000369	NP_000360			thyroid stimulating hormone receptor isoform 1						cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1)	299				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 						---	---	---	---
STON2	85439	broad.mit.edu	37	14	81743649	81743649	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81743649G>A	uc010tvu.1	-	4	2207	c.2006C>T	c.(2005-2007)GCG>GTG	p.A669V	STON2_uc001xvk.1_Missense_Mutation_p.A669V|STON2_uc010tvt.1_Missense_Mutation_p.A466V	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	stonin 2	669	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			skin(3)|pancreas(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.0348)														---	---	---	---
C14orf102	55051	broad.mit.edu	37	14	90752830	90752830	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:90752830G>A	uc001xyi.1	-	12	3196	c.3165C>T	c.(3163-3165)GAC>GAT	p.D1055D	C14orf102_uc010atp.1_Silent_p.D560D|C14orf102_uc001xyj.1_Silent_p.D824D|C14orf102_uc001xyk.1_Silent_p.D247D	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	hypothetical protein LOC55051 isoform 1	1055							protein binding			ovary(2)|lung(1)	3		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)														---	---	---	---
TTC7B	145567	broad.mit.edu	37	14	91084274	91084274	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91084274T>C	uc001xyp.2	-	16	1989	c.1867A>G	c.(1867-1869)AGT>GGT	p.S623G	TTC7B_uc001xyo.2_Missense_Mutation_p.S50G|TTC7B_uc010ats.2_RNA	NM_001010854	NP_001010854	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	623							binding			ovary(2)	2		Melanoma(154;0.222)																---	---	---	---
GPR68	8111	broad.mit.edu	37	14	91700968	91700968	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:91700968C>T	uc001xzg.2	-	2	768	c.427G>A	c.(427-429)GTG>ATG	p.V143M	GPR68_uc001xzh.2_Missense_Mutation_p.V153M	NM_003485	NP_003476	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	143	Helical; Name=4; (Potential).				inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)	1		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)														---	---	---	---
CATSPERB	79820	broad.mit.edu	37	14	92159484	92159484	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92159484G>A	uc001xzs.1	-	9	957	c.817C>T	c.(817-819)CGC>TGC	p.R273C		NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	cation channel, sperm-associated, beta	273					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(2)|skin(2)|ovary(1)	5		all_cancers(154;0.0663)|all_epithelial(191;0.236)																---	---	---	---
GOLGA5	9950	broad.mit.edu	37	14	93299610	93299610	+	Silent	SNP	C	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93299610C>G	uc001yaz.1	+	10	2045	c.1863C>G	c.(1861-1863)CGC>CGG	p.R621R	GOLGA5_uc001yba.1_Silent_p.R18R	NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Golgi autoantigen, golgin subfamily a, 5	621	Cytoplasmic (Potential).|Potential.				Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			ovary(2)|lung(1)	3		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)				T	RET	papillary thyroid								---	---	---	---
OTUB2	78990	broad.mit.edu	37	14	94512115	94512115	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:94512115G>A	uc001yci.2	+	6	712	c.552G>A	c.(550-552)TCG>TCA	p.S184S		NM_023112	NP_075601	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	184	OTU.				cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity				0		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)														---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96770925	96770925	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96770925C>T	uc001yfi.2	-	32	5114	c.4749G>A	c.(4747-4749)TCG>TCA	p.S1583S		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	ATG2 autophagy related 2 homolog B	1583										ovary(1)|kidney(1)|skin(1)	3		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)														---	---	---	---
SETD3	84193	broad.mit.edu	37	14	99865307	99865307	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:99865307C>T	uc001ygc.2	-	13	1664	c.1494G>A	c.(1492-1494)CCG>CCA	p.P498P		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	SET domain containing 3 isoform a	498					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity				0		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)																---	---	---	---
CYP46A1	10858	broad.mit.edu	37	14	100165852	100165852	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100165852C>T	uc001ygo.2	+	4	332	c.332C>T	c.(331-333)GCG>GTG	p.A111V	CYP46A1_uc001ygn.1_Missense_Mutation_p.A73V	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46	111					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity				0		Melanoma(154;0.0866)|all_epithelial(191;0.179)																---	---	---	---
DEGS2	123099	broad.mit.edu	37	14	100615561	100615561	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100615561G>A	uc001ygx.2	-	2	657	c.569C>T	c.(568-570)ACG>ATG	p.T190M		NM_206918	NP_996801	Q6QHC5	DEGS2_HUMAN	degenerative spermatocyte homolog 2, lipid	190					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity				0		Melanoma(154;0.212)																---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102478440	102478440	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102478440G>A	uc001yks.2	+	33	7011	c.6847G>A	c.(6847-6849)GTG>ATG	p.V2283M		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	2283	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102516461	102516461	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:102516461G>A	uc001yks.2	+	77	13902	c.13738G>A	c.(13738-13740)GCC>ACC	p.A4580T		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	cytoplasmic dynein 1 heavy chain 1	4580					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			ovary(7)|central_nervous_system(2)|pancreas(1)	10																		---	---	---	---
TRAF3	7187	broad.mit.edu	37	14	103342016	103342016	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103342016G>A	uc001ymc.1	+	5	706	c.353G>A	c.(352-354)CGG>CAG	p.R118Q	TRAF3_uc001yme.1_Missense_Mutation_p.R118Q|TRAF3_uc001ymd.1_Missense_Mutation_p.R118Q|TRAF3_uc010txy.1_Missense_Mutation_p.R118Q	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3 isoform 1	118					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)														---	---	---	---
CKB	1152	broad.mit.edu	37	14	103988481	103988481	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103988481G>A	uc001ynf.1	-	3	307	c.227C>T	c.(226-228)GCG>GTG	p.A76V	CKB_uc001yne.1_5'Flank|CKB_uc010awr.1_Missense_Mutation_p.A7V	NM_001823	NP_001814	P12277	KCRB_HUMAN	brain creatine kinase	76	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity				0		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)													---	---	---	---
SIVA1	10572	broad.mit.edu	37	14	105222982	105222982	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105222982C>T	uc001yph.2	+	3	424	c.355C>T	c.(355-357)CGA>TGA	p.R119*	INF2_uc010tyi.1_Intron|SIVA1_uc010tyj.1_Nonsense_Mutation_p.R119*|SIVA1_uc001ypg.1_3'UTR|SIVA1_uc001ypi.2_Nonsense_Mutation_p.R54*	NM_006427	NP_006418	O15304	SIVA_HUMAN	CD27-binding (Siva) protein isoform 1	119	Interaction with coxsackievirus B3 VP2.				activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding				0		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)														---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105414483	105414483	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105414483C>T	uc010axc.1	-	7	7425	c.7305G>A	c.(7303-7305)ACG>ACA	p.T2435T	AHNAK2_uc001ypx.2_Silent_p.T2335T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2435						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)															---	---	---	---
CDCA4	55038	broad.mit.edu	37	14	105477987	105477987	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105477987G>A	uc001yqa.2	-	2	376	c.280C>T	c.(280-282)CGC>TGC	p.R94C	CDCA4_uc001yqb.2_Missense_Mutation_p.R94C	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	cell division cycle associated 4	94						nucleus				ovary(1)	1		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)														---	---	---	---
CRIP2	1397	broad.mit.edu	37	14	105944597	105944597	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105944597G>A	uc001yrd.1	+						CRIP2_uc010tyr.1_Intron|CRIP2_uc001yrc.2_Intron|CRIP2_uc001yre.1_Intron|CRIP2_uc001yrf.1_Intron|CRIP2_uc001yrg.2_Intron|CRIP2_uc001yrh.1_5'Flank	NM_001312	NP_001303			cysteine-rich protein 2								zinc ion binding				0		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)														---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	106110437	106110437	+	RNA	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:106110437C>T	uc010tyt.1	-	3641		c.60932G>A			uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_RNA					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	107282956	107282956	+	RNA	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:107282956C>A	uc010tyt.1	-	2		c.110G>T			uc001ytb.1_Missense_Mutation_p.G63W					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
ADAM6	8755	broad.mit.edu	37	14	107283035	107283035	+	RNA	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:107283035T>C	uc010tyt.1	-	1		c.53A>G			uc001ytb.1_Silent_p.S36S					Parts of antibodies, mostly variable regions.												0																		---	---	---	---
SNORD116-4	100033416	broad.mit.edu	37	15	25342807	25342807	+	Intron	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:25342807C>A	uc001yxh.1	+						SNORD116-4_uc001yxm.1_Intron|IPW_uc001yxn.3_Intron|SNORD116-28_uc001yxy.2_Intron|IPW_uc001yyb.3_Intron|uc001yyd.2_Intron|SNORD116-25_uc001yyk.2_5'Flank|SNORD116-26_uc001yyl.2_5'Flank					Homo sapiens clone kid4 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.												0																		---	---	---	---
GABRA5	2558	broad.mit.edu	37	15	27193302	27193302	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:27193302C>A	uc001zbd.1	+	12	1650	c.1311C>A	c.(1309-1311)TTC>TTA	p.F437L	GABRA5_uc001zbe.1_RNA	NM_000810	NP_000801	P31644	GBRA5_HUMAN	gamma-aminobutyric acid A receptor, alpha 5	437	Helical; (Potential).				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			ovary(1)	1		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28326980	28326980	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28326980G>A	uc001zbh.3	-	2	151	c.41C>T	c.(40-42)GCG>GTG	p.A14V	OCA2_uc010ayv.2_Missense_Mutation_p.A14V	NM_000275	NP_000266	Q04671	P_HUMAN	oculocutaneous albinism II	14	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)										Oculocutaneous_Albinism				---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28474693	28474693	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:28474693A>G	uc001zbj.2	-	33	5139	c.5033T>C	c.(5032-5034)CTG>CCG	p.L1678P		NM_004667	NP_004658	O95714	HERC2_HUMAN	hect domain and RLD 2	1678					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33765563	33765563	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33765563C>T	uc001zhi.2	+						RYR3_uc010bar.2_Intron	NM_001036	NP_001027			ryanodine receptor 3						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)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33938666	33938666	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:33938666G>A	uc001zhi.2	+	29	3950	c.3880G>A	c.(3880-3882)GTC>ATC	p.V1294I	RYR3_uc010bar.2_Missense_Mutation_p.V1294I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	1294	4 X approximate repeats.|B30.2/SPRY 3.|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)														---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34118461	34118461	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34118461C>T	uc001zhi.2	+	83	11225	c.11155C>T	c.(11155-11157)CGG>TGG	p.R3719W	RYR3_uc010bar.2_Missense_Mutation_p.R3714W	NM_001036	NP_001027	Q15413	RYR3_HUMAN	ryanodine receptor 3	3719					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)														---	---	---	---
CHRM5	1133	broad.mit.edu	37	15	34354946	34354946	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:34354946A>G	uc001zhk.1	+	3	698	c.28A>G	c.(28-30)ACC>GCC	p.T10A	CHRM5_uc001zhl.1_Missense_Mutation_p.T10A	NM_012125	NP_036257	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	10	Extracellular (By similarity).				cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			ovary(1)|central_nervous_system(1)	2		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)											OREG0023033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
AQR	9716	broad.mit.edu	37	15	35235290	35235290	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:35235290G>A	uc001ziv.2	-							NM_014691	NP_055506			aquarius							catalytic step 2 spliceosome	RNA binding			large_intestine(1)	1		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)														---	---	---	---
BUB1B	701	broad.mit.edu	37	15	40494792	40494792	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40494792C>A	uc001zkx.3	+	14	1843	c.1631C>A	c.(1630-1632)CCT>CAT	p.P544H	BUB1B_uc010ucl.1_Missense_Mutation_p.P412H	NM_001211	NP_001202	O60566	BUB1B_HUMAN	budding uninhibited by benzimidazoles 1 beta	544					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			stomach(2)|ovary(1)|kidney(1)	4		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)				Mis|N|F|S			rhabdomyosarcoma			Mosaic_Variegated_Aneuploidy_Syndrome				---	---	---	---
VPS18	57617	broad.mit.edu	37	15	41191818	41191818	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41191818A>G	uc001zne.2	+	4	1141	c.802A>G	c.(802-804)AGT>GGT	p.S268G		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18	268					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			ovary(2)|large_intestine(1)	3		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)														---	---	---	---
MAPKBP1	23005	broad.mit.edu	37	15	42115755	42115755	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42115755C>T	uc001zok.3	+	30	4013	c.3727C>T	c.(3727-3729)CGG>TGG	p.R1243W	MAPKBP1_uc001zoj.3_Missense_Mutation_p.R1237W|MAPKBP1_uc010bcj.2_Missense_Mutation_p.R744W|MAPKBP1_uc010bci.2_Intron|MAPKBP1_uc010udb.1_Missense_Mutation_p.R1076W|MAPKBP1_uc010bck.2_Missense_Mutation_p.R454W|MAPKBP1_uc010bcl.2_Missense_Mutation_p.R744W	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein	1243										central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)														---	---	---	---
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42137955	42137955	+	Missense_Mutation	SNP	C	T	T	rs140808455		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42137955C>T	uc010bco.2	+	15	1578	c.1477C>T	c.(1477-1479)CGC>TGC	p.R493C	JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.R724C|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.R724C|JMJD7-PLA2G4B_uc001zoq.3_Missense_Mutation_p.R194C|JMJD7-PLA2G4B_uc001zor.1_Missense_Mutation_p.R194C	NM_001114633	NP_001108105	P0C869	PA24B_HUMAN	phospholipase A2, group IVB	493	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			large_intestine(1)	1																		---	---	---	---
SPTBN5	51332	broad.mit.edu	37	15	42162711	42162711	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42162711G>A	uc001zos.2	-	30	5723	c.5390C>T	c.(5389-5391)GCG>GTG	p.A1797V		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1832	Spectrin 14.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				ovary(1)|central_nervous_system(1)	2		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)														---	---	---	---
EHD4	30844	broad.mit.edu	37	15	42193248	42193248	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:42193248C>T	uc001zot.2	-	6	1284	c.1221G>A	c.(1219-1221)ACG>ACA	p.T407T		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	EH-domain containing 4	407					endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			ovary(2)	2		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)														---	---	---	---
TTBK2	146057	broad.mit.edu	37	15	43067378	43067378	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43067378C>T	uc001zqo.2	-	13	2392	c.1953G>A	c.(1951-1953)ACG>ACA	p.T651T	TTBK2_uc010bcy.2_Silent_p.T582T	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	651					cell death		ATP binding|protein serine/threonine kinase activity			ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1)	7		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)														---	---	---	---
CCNDBP1	23582	broad.mit.edu	37	15	43483809	43483809	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43483809G>T	uc001zqv.2	+	8	1027	c.796G>T	c.(796-798)GGG>TGG	p.G266W	CCNDBP1_uc001zqu.2_Missense_Mutation_p.G138W|CCNDBP1_uc010bdc.2_Missense_Mutation_p.G266W|CCNDBP1_uc010bdb.2_Missense_Mutation_p.G138W|CCNDBP1_uc010udl.1_Missense_Mutation_p.G105W|CCNDBP1_uc001zqw.2_RNA|CCNDBP1_uc001zqx.2_Missense_Mutation_p.G138W|CCNDBP1_uc010bdd.2_Missense_Mutation_p.G138W|CCNDBP1_uc001zqy.2_Missense_Mutation_p.G138W	NM_012142	NP_036274	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1 isoform 1	266	Interaction with TCF3.|Interaction with RPLP0.				cell cycle	cytoplasm|nucleus	protein binding			ovary(1)|kidney(1)	2		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)														---	---	---	---
TGM5	9333	broad.mit.edu	37	15	43544999	43544999	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43544999G>A	uc001zrd.1	-	6	828	c.820C>T	c.(820-822)CGC>TGC	p.R274C	TGM5_uc001zre.1_Missense_Mutation_p.R192C	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	274					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)													---	---	---	---
TGM7	116179	broad.mit.edu	37	15	43571937	43571937	+	Missense_Mutation	SNP	G	A	A	rs143155861	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43571937G>A	uc001zrf.1	-	10	1569	c.1564C>T	c.(1564-1566)CGG>TGG	p.R522W		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	transglutaminase 7	522					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)													---	---	---	---
ZSCAN29	146050	broad.mit.edu	37	15	43661137	43661137	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43661137T>G	uc001zrk.1	-	2	654	c.507A>C	c.(505-507)AAA>AAC	p.K169N	ZSCAN29_uc001zrj.1_Missense_Mutation_p.K49N|ZSCAN29_uc010bdf.1_Missense_Mutation_p.K168N|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Missense_Mutation_p.K168N|ZSCAN29_uc001zrm.2_Missense_Mutation_p.K168N|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	zinc finger protein 690	169					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1		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;8.97e-07)														---	---	---	---
STRC	161497	broad.mit.edu	37	15	43896937	43896937	+	Silent	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43896937C>A	uc001zsf.2	-	20	4116	c.4038G>T	c.(4036-4038)CTG>CTT	p.L1346L	STRC_uc010bdl.2_Silent_p.L573L|STRC_uc001zse.2_5'UTR	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	stereocilin precursor	1346					sensory perception of sound	cell surface					0		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)														---	---	---	---
DUOX2	50506	broad.mit.edu	37	15	45386840	45386840	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45386840G>A	uc010bea.2	-	33	4648	c.4445C>T	c.(4444-4446)ACG>ATG	p.T1482M	DUOX2_uc001zun.2_Missense_Mutation_p.T1482M	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	dual oxidase 2 precursor	1482	Cytoplasmic (Potential).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			ovary(2)|skin(2)|pancreas(1)	5		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)														---	---	---	---
DUOX1	53905	broad.mit.edu	37	15	45444210	45444210	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45444210C>A	uc001zus.1	+	25	3499	c.3153C>A	c.(3151-3153)TTC>TTA	p.F1051L	DUOX1_uc001zut.1_Missense_Mutation_p.F1051L|DUOX1_uc010bee.1_Missense_Mutation_p.F431L|DUOX1_uc001zuu.2_Missense_Mutation_p.F193L	NM_017434	NP_059130	Q9NRD9	DUOX1_HUMAN	dual oxidase 1 precursor	1051	Helical; (Potential).|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			ovary(5)|skin(2)|breast(1)	8		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)														---	---	---	---
C15orf21	283651	broad.mit.edu	37	15	45847976	45847976	+	RNA	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:45847976G>A	uc010beg.1	+	6		c.971G>A			C15orf21_uc010beh.1_RNA|C15orf21_uc010bei.1_RNA|C15orf21_uc010bej.1_RNA|C15orf21_uc001zvm.1_RNA|C15orf21_uc001zvn.1_RNA					Homo sapiens cDNA FLJ39426 fis, clone PROST2000505.												0		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;3.03e-17)|GBM - Glioblastoma multiforme(94;7.36e-07)				T	ETV1	prostate								---	---	---	---
FBN1	2200	broad.mit.edu	37	15	48780614	48780614	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:48780614G>A	uc001zwx.1	-	26	3487	c.3159C>T	c.(3157-3159)TGC>TGT	p.C1053C		NM_000138	NP_000129	P35555	FBN1_HUMAN	fibrillin 1 precursor	1053	EGF-like 15; calcium-binding.		C -> R (in MFS).		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)														---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51778359	51778359	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51778359C>T	uc002abf.2	-	23	5618	c.5393G>A	c.(5392-5394)CGT>CAT	p.R1798H	DMXL2_uc010ufy.1_Missense_Mutation_p.R1798H|DMXL2_uc010bfa.2_Missense_Mutation_p.R1162H	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1798						cell junction|synaptic vesicle membrane	Rab GTPase binding			ovary(6)|skin(3)	9				all cancers(107;0.00494)														---	---	---	---
PYGO1	26108	broad.mit.edu	37	15	55838476	55838476	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:55838476C>T	uc010bfl.1	-	3	1061	c.1005G>A	c.(1003-1005)TCG>TCA	p.S335S	PYGO1_uc002adf.1_Silent_p.S335S	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	pygopus homolog 1	335					Wnt receptor signaling pathway	nucleus	zinc ion binding			ovary(1)|skin(1)	2				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)														---	---	---	---
RNF111	54778	broad.mit.edu	37	15	59358996	59358996	+	Missense_Mutation	SNP	C	T	T	rs111330212	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59358996C>T	uc002afv.2	+	6	1679	c.1400C>T	c.(1399-1401)ACG>ATG	p.T467M	RNF111_uc002afs.2_Missense_Mutation_p.T467M|RNF111_uc002aft.2_Missense_Mutation_p.T467M|RNF111_uc002afu.2_Missense_Mutation_p.T467M|RNF111_uc002afw.2_Missense_Mutation_p.T467M|RNF111_uc002afx.2_Translation_Start_Site	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	ring finger protein 111	467					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(2)	2				all cancers(107;0.194)														---	---	---	---
BNIP2	663	broad.mit.edu	37	15	59963459	59963459	+	Nonsense_Mutation	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:59963459A>T	uc010uhc.1	-	7	996	c.993T>A	c.(991-993)TAT>TAA	p.Y331*	BNIP2_uc002agi.3_5'Flank|BNIP2_uc010uhb.1_Nonsense_Mutation_p.Y272*	NM_004330	NP_004321	Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kD interacting protein 2	210	CRAL-TRIO.				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			ovary(1)	1																		---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62217710	62217710	+	Missense_Mutation	SNP	G	A	A	rs146858303	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:62217710G>A	uc002agz.2	-	53	6628	c.6554C>T	c.(6553-6555)ACG>ATG	p.T2185M	VPS13C_uc002aha.2_Missense_Mutation_p.T2142M|VPS13C_uc002ahb.1_Missense_Mutation_p.T2185M|VPS13C_uc002ahc.1_Missense_Mutation_p.T2142M	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13C protein isoform 2A	2185					protein localization					ovary(2)	2																		---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63031668	63031668	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63031668C>T	uc002alb.3	+	28	3809	c.3809C>T	c.(3808-3810)GCT>GTT	p.A1270V	TLN2_uc002alc.3_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1270					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63047743	63047743	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63047743G>A	uc002alb.3	+	34	4489	c.4489G>A	c.(4489-4491)GCC>ACC	p.A1497T	TLN2_uc002alc.3_5'UTR	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	talin 2	1497					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11																		---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63950833	63950833	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63950833C>T	uc002amp.2	-	48	9657	c.9509G>A	c.(9508-9510)CGT>CAT	p.R3170H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	3170					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																		---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63972271	63972271	+	Intron	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63972271A>G	uc002amp.2	-							NM_003922	NP_003913			hect domain and RCC1-like domain 1						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																		---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63984649	63984649	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:63984649C>T	uc002amp.2	-	31	5939	c.5791G>A	c.(5791-5793)GAA>AAA	p.E1931K		NM_003922	NP_003913	Q15751	HERC1_HUMAN	hect domain and RCC1-like domain 1	1931					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																		---	---	---	---
CSNK1G1	53944	broad.mit.edu	37	15	64495365	64495365	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64495365G>A	uc002anf.2	-	10	1503	c.1023C>T	c.(1021-1023)CAC>CAT	p.H341H	CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Silent_p.H341H|CSNK1G1_uc002anh.1_Silent_p.H341H|CSNK1G1_uc002anj.2_Silent_p.H323H	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	341					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity				0																		---	---	---	---
TRIP4	9325	broad.mit.edu	37	15	64716345	64716345	+	Missense_Mutation	SNP	C	T	T	rs141545012	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64716345C>T	uc002anm.2	+	10	1517	c.1474C>T	c.(1474-1476)CGT>TGT	p.R492C		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	492					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			ovary(1)|kidney(1)|skin(1)	3																		---	---	---	---
OAZ2	4947	broad.mit.edu	37	15	64982608	64982608	+	RNA	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64982608G>A	uc002anp.2	-	3		c.534C>T								Homo sapiens ornithine decarboxylase antizyme 2 (OAZ2) mRNA, complete cds.						polyamine metabolic process|regulation of cellular amino acid metabolic process	cytosol|nucleus	ornithine decarboxylase inhibitor activity|protein binding				0					L-Ornithine(DB00129)													---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65681620	65681620	+	Splice_Site	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65681620A>G	uc002aou.1	-	14	2746	c.2536_splice	c.e14+1	p.R846_splice	IGDCC4_uc002aot.1_Splice_Site_p.R434_splice	NM_020962	NP_066013			immunoglobulin superfamily, DCC subclass, member							integral to membrane|plasma membrane				ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	65983356	65983356	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:65983356A>G	uc002aph.2	-	22	3822	c.3444T>C	c.(3442-3444)CGT>CGC	p.R1148R	DENND4A_uc002api.2_Silent_p.R1191R|DENND4A_uc002apj.3_Silent_p.R1148R	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	1148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4																		---	---	---	---
MEGF11	84465	broad.mit.edu	37	15	66273116	66273116	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66273116C>T	uc002apm.2	-	7	903	c.762G>A	c.(760-762)ACG>ACA	p.T254T	MEGF11_uc002apl.2_Silent_p.T179T|MEGF11_uc002apn.1_Silent_p.T254T	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	254	EGF-like 4.					basolateral plasma membrane|integral to membrane				pancreas(1)	1																		---	---	---	---
ITGA11	22801	broad.mit.edu	37	15	68606107	68606107	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68606107C>T	uc002ari.2	-						ITGA11_uc010bib.2_Intron	NM_001004439	NP_001004439			integrin, alpha 11 precursor						cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)													---	---	---	---
TLE3	7090	broad.mit.edu	37	15	70356794	70356794	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:70356794G>A	uc002asm.2	-	8	1712	c.593C>T	c.(592-594)GCG>GTG	p.A198V	TLE3_uc002ask.2_Missense_Mutation_p.A142V|TLE3_uc002asl.2_Missense_Mutation_p.A203V|TLE3_uc010ukd.1_Missense_Mutation_p.A191V|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Missense_Mutation_p.A198V|TLE3_uc002asn.2_Missense_Mutation_p.A198V|TLE3_uc002asp.2_Missense_Mutation_p.A198V|TLE3_uc002aso.2_Missense_Mutation_p.A198V	NM_005078	NP_005069	Q04726	TLE3_HUMAN	transducin-like enhancer protein 3 isoform a	198	Gly/Pro-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|protein binding			lung(2)	2																		---	---	---	---
MYO9A	4649	broad.mit.edu	37	15	72119141	72119141	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72119141C>T	uc002atl.3	-	42	7900	c.7427G>A	c.(7426-7428)GGC>GAC	p.G2476D	MYO9A_uc002atj.2_Missense_Mutation_p.G407D|MYO9A_uc002atk.2_Missense_Mutation_p.G1271D	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	myosin IXA	2476	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			ovary(1)|pancreas(1)|skin(1)	3																		---	---	---	---
CELF6	60677	broad.mit.edu	37	15	72580692	72580692	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:72580692A>G	uc002auh.2	-	11	1585	c.1275T>C	c.(1273-1275)GCT>GCC	p.A425A	uc002aug.2_Intron|CELF6_uc002auk.3_RNA|CELF6_uc010biv.1_RNA|CELF6_uc010biw.2_Silent_p.A312A|CELF6_uc010ukl.1_Silent_p.A288A|CELF6_uc010ukm.1_Silent_p.A398A|CELF6_uc002aui.2_Silent_p.A531A|CELF6_uc002auj.2_Silent_p.A312A	NM_052840	NP_443072	Q96J87	CELF6_HUMAN	bruno-like 6, RNA binding protein	425	RRM 3.				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding			large_intestine(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
PML	5371	broad.mit.edu	37	15	74315212	74315212	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74315212G>A	uc002awv.2	+	3	786	c.646G>A	c.(646-648)GCG>ACG	p.A216T	PML_uc002awm.2_Missense_Mutation_p.A216T|PML_uc002awl.2_Missense_Mutation_p.A216T|PML_uc002awj.1_Missense_Mutation_p.A216T|PML_uc002awk.2_Missense_Mutation_p.A216T|PML_uc002awn.2_Missense_Mutation_p.A216T|PML_uc002awo.2_Missense_Mutation_p.A216T|PML_uc002awp.2_Missense_Mutation_p.A216T|PML_uc002awq.2_Missense_Mutation_p.A216T|PML_uc002awr.2_Missense_Mutation_p.A216T|PML_uc002aws.2_Missense_Mutation_p.A216T|PML_uc002awt.2_Missense_Mutation_p.A216T|PML_uc002awu.2_Missense_Mutation_p.A216T|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.A131T|PML_uc002awx.2_5'UTR|PML_uc002awy.2_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	promyelocytic leukemia protein isoform 1	216	B box-type 2.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5								T	RARA|PAX5	APL|ALL								---	---	---	---
PML	5371	broad.mit.edu	37	15	74327978	74327978	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74327978C>T	uc002awv.2	+						PML_uc002awm.2_3'UTR|PML_uc002awl.2_3'UTR|PML_uc002awj.1_3'UTR|PML_uc002awk.2_Nonsense_Mutation_p.R726*|PML_uc002awn.2_3'UTR|PML_uc002awo.2_Nonsense_Mutation_p.R678*|PML_uc002awp.2_Intron|PML_uc002awq.2_Intron|PML_uc002awr.2_Intron|PML_uc002aws.2_Intron|PML_uc002awt.2_Intron|PML_uc002awu.2_Intron|PML_uc010ule.1_Intron|PML_uc002awx.2_3'UTR|PML_uc002awy.2_Nonsense_Mutation_p.R155*	NM_033238	NP_150241			promyelocytic leukemia protein isoform 1						cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5								T	RARA|PAX5	APL|ALL								---	---	---	---
PML	5371	broad.mit.edu	37	15	74328197	74328197	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74328197C>T	uc002awv.2	+						PML_uc002awm.2_3'UTR|PML_uc002awl.2_3'UTR|PML_uc002awj.1_3'UTR|PML_uc002awk.2_Missense_Mutation_p.P799S|PML_uc002awn.2_3'UTR|PML_uc002awo.2_Missense_Mutation_p.P751S|PML_uc002awp.2_Intron|PML_uc002awq.2_Intron|PML_uc002awr.2_Intron|PML_uc002aws.2_Intron|PML_uc002awt.2_Intron|PML_uc002awu.2_Intron|PML_uc010ule.1_Intron|PML_uc002awx.2_3'UTR|PML_uc002awy.2_Missense_Mutation_p.P228S	NM_033238	NP_150241			promyelocytic leukemia protein isoform 1						cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding			central_nervous_system(2)|kidney(2)|breast(1)	5								T	RARA|PAX5	APL|ALL								---	---	---	---
CCDC33	80125	broad.mit.edu	37	15	74588232	74588232	+	Silent	SNP	G	A	A	rs117429899	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74588232G>A	uc002axo.2	+	11	1627	c.1233G>A	c.(1231-1233)ACG>ACA	p.T411T	CCDC33_uc002axp.2_Silent_p.T233T	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33 isoform 1	614							protein binding			ovary(3)|skin(2)	5																		---	---	---	---
CLK3	1198	broad.mit.edu	37	15	74922173	74922173	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:74922173C>T	uc010uln.1	+	13	2327	c.1866C>T	c.(1864-1866)GGC>GGT	p.G622G	CLK3_uc002ayg.3_Silent_p.G474G|CLK3_uc002ayh.3_Silent_p.G253G|CLK3_uc002ayj.3_Silent_p.G451G|CLK3_uc002ayk.3_Silent_p.G401G|CLK3_uc002ayl.3_Silent_p.G307G	NM_001130028	NP_001123500	P49761	CLK3_HUMAN	CDC-like kinase 3 isoform a	622						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)	2																		---	---	---	---
CSPG4	1464	broad.mit.edu	37	15	75980151	75980151	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75980151G>T	uc002baw.2	-	3	3348	c.3255C>A	c.(3253-3255)GAC>GAA	p.D1085E		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4 precursor	1085	Interaction with COL5A1 (By similarity).|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|CSPG 6.				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			ovary(2)|pancreas(1)	3																		---	---	---	---
IREB2	3658	broad.mit.edu	37	15	78755308	78755308	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78755308C>T	uc002bdr.2	+	3	313	c.151C>T	c.(151-153)CGA>TGA	p.R51*	IREB2_uc010unb.1_Translation_Start_Site|IREB2_uc002bdq.2_Nonsense_Mutation_p.R51*	NM_004136	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	51							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding				0				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)														---	---	---	---
AGPHD1	123688	broad.mit.edu	37	15	78825820	78825820	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:78825820C>T	uc010unc.1	+	5	1043	c.930C>T	c.(928-930)TGC>TGT	p.C310C	AGPHD1_uc010ble.2_Intron	NM_001013619	NP_001013641	A2RU49	AGPD1_HUMAN	aminoglycoside phosphotransferase domain	310						cytoplasm	kinase activity				0																		---	---	---	---
RASGRF1	5923	broad.mit.edu	37	15	79296445	79296445	+	Silent	SNP	G	A	A	rs144984287	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:79296445G>A	uc002beq.2	-	16	2571	c.2196C>T	c.(2194-2196)CGC>CGT	p.R732R	RASGRF1_uc002bep.2_Silent_p.R716R|RASGRF1_uc010blm.1_Silent_p.R641R|RASGRF1_uc002ber.3_Silent_p.R716R|RASGRF1_uc010unh.1_Silent_p.R127R|RASGRF1_uc002beo.2_5'UTR	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Ras protein-specific guanine	732	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			skin(4)|ovary(1)|central_nervous_system(1)	6																		---	---	---	---
KIAA1199	57214	broad.mit.edu	37	15	81229191	81229191	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81229191C>T	uc002bfw.1	+	23	3446	c.3186C>T	c.(3184-3186)CCC>CCT	p.P1062P	KIAA1199_uc010unn.1_Silent_p.P1062P	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	1062										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3																		---	---	---	---
MESDC2	23184	broad.mit.edu	37	15	81271690	81271690	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81271690C>T	uc002bfy.1	-	3	648	c.575G>A	c.(574-576)GGC>GAC	p.G192D	MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_Intron	NM_015154	NP_055969	Q14696	MESD_HUMAN	mesoderm development candidate 2	192	Escort domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum					0																		---	---	---	---
STARD5	80765	broad.mit.edu	37	15	81605643	81605643	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81605643C>T	uc002bgm.2	-	6	680	c.596G>A	c.(595-597)CGG>CAG	p.R199Q	STARD5_uc002bgn.2_Missense_Mutation_p.R92Q	NM_181900	NP_871629	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer protein 5	199	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			ovary(1)	1																		---	---	---	---
EFTUD1	79631	broad.mit.edu	37	15	82450185	82450185	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:82450185G>A	uc002bgt.1	-	17	2068	c.1899C>T	c.(1897-1899)CTC>CTT	p.L633L	EFTUD1_uc002bgs.1_Silent_p.L4L|EFTUD1_uc002bgu.1_Silent_p.L582L	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain	633					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			ovary(1)	1																		---	---	---	---
SH3GL3	6457	broad.mit.edu	37	15	84287033	84287033	+	Silent	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:84287033T>G	uc002bjw.2	+	9	1233	c.1038T>G	c.(1036-1038)CCT>CCG	p.P346P	SH3GL3_uc002bjx.2_Silent_p.P277P|SH3GL3_uc002bju.2_Silent_p.P354P|SH3GL3_uc002bjv.2_RNA	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	346					central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			pancreas(1)|central_nervous_system(1)|skin(1)	3																		---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84611421	84611421	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:84611421C>T	uc002bjz.3	+	18	2415	c.2191C>T	c.(2191-2193)CTG>TTG	p.L731L	ADAMTSL3_uc010bmt.1_Silent_p.L731L|ADAMTSL3_uc010bmu.1_Silent_p.L731L	NM_207517	NP_997400	P82987	ATL3_HUMAN	ADAMTS-like 3 precursor	731	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27			BRCA - Breast invasive adenocarcinoma(143;0.211)															---	---	---	---
ZSCAN2	54993	broad.mit.edu	37	15	85164376	85164376	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85164376G>A	uc002bkr.2	+	3	1176	c.950G>A	c.(949-951)AGG>AAG	p.R317K	ZSCAN2_uc010bmz.1_Missense_Mutation_p.R315K|ZSCAN2_uc010bna.2_Missense_Mutation_p.R167K|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	zinc finger protein 29 isoform 1	317	C2H2-type 4.				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)														---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85383049	85383049	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85383049G>A	uc002ble.2	+	5	1312	c.1145G>A	c.(1144-1146)CGC>CAC	p.R382H		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	382					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
ALPK3	57538	broad.mit.edu	37	15	85383150	85383150	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85383150C>T	uc002ble.2	+	5	1413	c.1246C>T	c.(1246-1248)CGC>TGC	p.R416C		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	416					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---
AGBL1	123624	broad.mit.edu	37	15	86800191	86800191	+	Silent	SNP	C	A	A	rs150851131	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86800191C>A	uc002blz.1	+	7	785	c.705C>A	c.(703-705)GCC>GCA	p.A235A		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	235					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding				0																		---	---	---	---
ACAN	176	broad.mit.edu	37	15	89414619	89414619	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89414619A>T	uc010upo.1	+	14	7327	c.6953A>T	c.(6952-6954)GAG>GTG	p.E2318V	ACAN_uc010upp.1_Missense_Mutation_p.E2280V|ACAN_uc002bna.2_RNA	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	aggrecan isoform 2 precursor	2318					cell adhesion		hyaluronic acid binding|sugar binding			ovary(2)|central_nervous_system(1)	3	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)															---	---	---	---
HAPLN3	145864	broad.mit.edu	37	15	89424613	89424613	+	Silent	SNP	G	A	A	rs143849630	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89424613G>A	uc002bnc.2	-	3	596	c.468C>T	c.(466-468)AGC>AGT	p.S156S	HAPLN3_uc002bne.2_RNA|HAPLN3_uc002bnd.2_Silent_p.S218S	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	156	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding				0	Lung NSC(78;0.0392)|all_lung(78;0.077)																	---	---	---	---
FANCI	55215	broad.mit.edu	37	15	89828432	89828432	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:89828432C>T	uc010bnp.1	+	18	1894	c.1804C>T	c.(1804-1806)CGA>TGA	p.R602*	FANCI_uc002bnm.1_Nonsense_Mutation_p.R602*|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Nonsense_Mutation_p.R423*|FANCI_uc002bnq.1_Nonsense_Mutation_p.R15*	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I isoform	602					cell cycle|DNA repair	nucleoplasm	protein binding			ovary(2)	2	Lung NSC(78;0.0472)|all_lung(78;0.089)												Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
SEMA4B	10509	broad.mit.edu	37	15	90771715	90771715	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90771715G>A	uc002boy.2	+	15	2637	c.2354G>A	c.(2353-2355)CGA>CAA	p.R785Q	SEMA4B_uc002boz.2_Missense_Mutation_p.R785Q|SEMA4B_uc010uqd.1_Missense_Mutation_p.R623Q|SEMA4B_uc002bpa.2_Missense_Mutation_p.R623Q|SEMA4B_uc010bnv.1_Intron	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)															---	---	---	---
ZNF774	342132	broad.mit.edu	37	15	90904335	90904335	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:90904335C>T	uc002bpk.3	+	4	1458	c.1272C>T	c.(1270-1272)ATC>ATT	p.I424I		NM_001004309	NP_001004309	Q6NX45	ZN774_HUMAN	zinc finger protein 774	424	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331)		BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)															---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	91035845	91035845	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91035845C>T	uc002bpl.1	+	35	4631	c.4530C>T	c.(4528-4530)TAC>TAT	p.Y1510Y	IQGAP1_uc010uqg.1_Silent_p.Y131Y	NM_003870	NP_003861	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1510	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)															---	---	---	---
BLM	641	broad.mit.edu	37	15	91292843	91292843	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91292843G>A	uc002bpr.2	+	3	442	c.345G>A	c.(343-345)CCG>CCA	p.P115P	BLM_uc010uqh.1_Silent_p.P115P|BLM_uc010uqi.1_5'UTR|BLM_uc010bnx.2_Silent_p.P115P	NM_000057	NP_000048	P54132	BLM_HUMAN	Bloom syndrome protein	115					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			ovary(3)|skin(2)|breast(1)	6	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)					Mis|N|F			leukemia|lymphoma|skin squamous cell |other cancers		Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Bloom_syndrome				---	---	---	---
FES	2242	broad.mit.edu	37	15	91430230	91430230	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91430230C>T	uc002bpv.2	+	4	523	c.427C>T	c.(427-429)CGA>TGA	p.R143*	FES_uc010uqj.1_Nonsense_Mutation_p.R85*|FES_uc010uqk.1_Nonsense_Mutation_p.R125*|FES_uc002bpw.2_RNA|FES_uc010bny.2_Nonsense_Mutation_p.R85*|FES_uc002bpx.2_Nonsense_Mutation_p.R143*|FES_uc002bpy.2_Nonsense_Mutation_p.R85*	NM_002005	NP_001996	P07332	FES_HUMAN	feline sarcoma oncogene isoform 1	143	Potential.|Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
MAN2A2	4122	broad.mit.edu	37	15	91448606	91448606	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91448606C>T	uc010bnz.2	+	3	373	c.258C>T	c.(256-258)CCC>CCT	p.P86P	MAN2A2_uc010boa.2_Silent_p.P128P|MAN2A2_uc002bqc.2_Silent_p.P86P|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	86	Lumenal (Potential).				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			large_intestine(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)															---	---	---	---
VPS33B	26276	broad.mit.edu	37	15	91553068	91553068	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:91553068C>T	uc002bqp.1	-	6	720	c.366G>A	c.(364-366)GCG>GCA	p.A122A	VPS33B_uc002bqq.1_Silent_p.A31A|VPS33B_uc010uqu.1_Silent_p.A95A	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33B (yeast homolog))	122					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			ovary(2)	2	Lung NSC(78;0.0987)|all_lung(78;0.175)																	---	---	---	---
CHD2	1106	broad.mit.edu	37	15	93482924	93482924	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:93482924G>A	uc002bsp.2	+	7	1243	c.668G>A	c.(667-669)CGT>CAT	p.R223H	CHD2_uc002bsm.1_Missense_Mutation_p.R223H|CHD2_uc002bsn.2_Missense_Mutation_p.R223H|CHD2_uc002bso.1_Missense_Mutation_p.R223H|CHD2_uc010urb.1_Missense_Mutation_p.R236H	NM_001271	NP_001262	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	223					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			ovary(1)|skin(1)	2	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)															---	---	---	---
NR2F2	7026	broad.mit.edu	37	15	96880779	96880779	+	Silent	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:96880779C>A	uc010uri.1	+	3	2397	c.1173C>A	c.(1171-1173)CCC>CCA	p.P391P	NR2F2_uc002btp.2_Silent_p.P258P|NR2F2_uc010urj.1_Silent_p.P238P|NR2F2_uc010urk.1_Silent_p.P238P	NM_021005	NP_066285	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	391	Interaction with ZFPM2 (By similarity).|Important for dimerization.|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			ovary(2)|breast(1)	3	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)															---	---	---	---
IGF1R	3480	broad.mit.edu	37	15	99440008	99440008	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:99440008G>A	uc002bul.2	+	4	1026	c.976G>A	c.(976-978)GGT>AGT	p.G326S	IGF1R_uc010urq.1_Missense_Mutation_p.G326S|IGF1R_uc010bon.2_Missense_Mutation_p.G326S	NM_000875	NP_000866	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor precursor	326					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)													---	---	---	---
C15orf51	196968	broad.mit.edu	37	15	100339971	100339971	+	RNA	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:100339971G>A	uc010urx.1	-	4		c.956C>T			C15orf51_uc010ury.1_RNA|uc002bvp.2_5'Flank|C15orf51_uc010urz.1_RNA|uc002bvq.2_5'Flank|uc002bvt.1_5'Flank	NR_003260				Homo sapiens cDNA FLJ43799 fis, clone TESTI4000288.												0																		---	---	---	---
LASS3	204219	broad.mit.edu	37	15	101042044	101042044	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101042044G>A	uc002bvz.2	-	4	513	c.11C>T	c.(10-12)ACG>ATG	p.T4M	LASS3_uc002bwa.2_Missense_Mutation_p.T15M|LASS3_uc002bwb.2_Missense_Mutation_p.T4M	NM_178842	NP_849164	Q8IU89	CERS3_HUMAN	LAG1 longevity assurance homolog 3	4						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity			ovary(2)|pancreas(1)|skin(1)	4	Lung NSC(78;0.0018)|all_lung(78;0.00278)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000867)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)															---	---	---	---
LRRK1	79705	broad.mit.edu	37	15	101549173	101549173	+	Silent	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:101549173C>A	uc002bwr.2	+	7	1213	c.894C>A	c.(892-894)CCC>CCA	p.P298P	LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	298	LRR 1.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)													OREG0023521	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
NPRL3	8131	broad.mit.edu	37	16	139794	139794	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:139794G>A	uc002cfr.2	-	12	1367	c.1268C>T	c.(1267-1269)CCG>CTG	p.P423L	NPRL3_uc010uua.1_RNA|NPRL3_uc002cfp.1_RNA|NPRL3_uc002cfq.2_Missense_Mutation_p.P244L|NPRL3_uc010uub.1_Missense_Mutation_p.P398L|NPRL3_uc010uuc.1_Missense_Mutation_p.P345L|NPRL3_uc002cfs.1_Missense_Mutation_p.P398L	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	conserved gene telomeric to alpha globin cluster	423							protein binding			ovary(1)	1																		---	---	---	---
ITFG3	83986	broad.mit.edu	37	16	314861	314861	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:314861C>T	uc002cgf.2	+	13	1694	c.1499C>T	c.(1498-1500)CCG>CTG	p.P500L	ITFG3_uc002cgg.2_Missense_Mutation_p.P500L|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.2_Missense_Mutation_p.P500L	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	500	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)																---	---	---	---
RGS11	8786	broad.mit.edu	37	16	321227	321227	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:321227G>A	uc002cgj.1	-	12	840	c.837C>T	c.(835-837)GAC>GAT	p.D279D	RGS11_uc002cgi.1_Silent_p.D258D|RGS11_uc010bqs.1_Silent_p.D268D|RGS11_uc002cgk.1_Silent_p.D95D	NM_183337	NP_899180	O94810	RGS11_HUMAN	regulator of G-protein signalling 11 isoform 1	279	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			lung(1)|pancreas(1)	2		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)																---	---	---	---
RHOT2	89941	broad.mit.edu	37	16	720500	720500	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:720500C>T	uc002cip.2	+	8	550	c.483C>T	c.(481-483)TAC>TAT	p.Y161Y	RHOT2_uc002ciq.2_Silent_p.Y54Y|RHOT2_uc010bqy.2_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	161	Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)																---	---	---	---
RHOT2	89941	broad.mit.edu	37	16	722106	722106	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:722106C>T	uc002cip.2	+	14	1187	c.1120C>T	c.(1120-1122)CGG>TGG	p.R374W	RHOT2_uc002ciq.2_Missense_Mutation_p.R267W|RHOT2_uc010bqy.2_Missense_Mutation_p.R153W	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	374	Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)																---	---	---	---
WDR24	84219	broad.mit.edu	37	16	737600	737600	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:737600G>A	uc002ciz.1	-	2	1381	c.621C>T	c.(619-621)AAC>AAT	p.N207N		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	WD repeat domain 24	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(1)|central_nervous_system(1)	2		Hepatocellular(780;0.0218)																---	---	---	---
FAM173A	65990	broad.mit.edu	37	16	772358	772358	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:772358G>A	uc002cje.2	+	5	626	c.509G>A	c.(508-510)CGC>CAC	p.R170H		NM_023933	NP_076422	Q9BQD7	F173A_HUMAN	hypothetical protein LOC65990	170						integral to membrane				pancreas(1)	1																		---	---	---	---
CHTF18	63922	broad.mit.edu	37	16	847947	847947	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:847947G>A	uc002cke.3	+	22	2963	c.2900G>A	c.(2899-2901)CGC>CAC	p.R967H	CHTF18_uc002ckf.3_Missense_Mutation_p.R995H|CHTF18_uc010brf.2_Missense_Mutation_p.R549H|CHTF18_uc002ckg.3_Missense_Mutation_p.R485H	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor	967					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			kidney(1)	1		Hepatocellular(780;0.00335)																---	---	---	---
TPSD1	23430	broad.mit.edu	37	16	1306689	1306689	+	Splice_Site	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1306689G>A	uc002clb.1	+	2	263	c.254_splice	c.e2+1	p.P85_splice	TPSD1_uc010brm.1_Splice_Site_p.P23_splice	NM_012217	NP_036349			tryptase delta 1 precursor						proteolysis	extracellular region	serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)																---	---	---	---
CLCN7	1186	broad.mit.edu	37	16	1502843	1502843	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1502843G>A	uc002clv.2	-	15	1376	c.1266C>T	c.(1264-1266)GCC>GCT	p.A422A	CLCN7_uc002clw.2_Silent_p.A398A	NM_001287	NP_001278	P51798	CLCN7_HUMAN	chloride channel 7 isoform a	422	Helical; (By similarity).					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Hepatocellular(780;0.0893)																---	---	---	---
PTX4	390667	broad.mit.edu	37	16	1537873	1537873	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1537873C>T	uc010uvf.1	-	2	225	c.225G>A	c.(223-225)GCG>GCA	p.A75A		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	neuronal pentraxin II-like	80						extracellular region	metal ion binding				0																		---	---	---	---
TELO2	9894	broad.mit.edu	37	16	1545568	1545568	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1545568G>A	uc002cly.2	+	3	848	c.557G>A	c.(556-558)CGC>CAC	p.R186H	TELO2_uc010uvg.1_Missense_Mutation_p.R186H	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	TEL2, telomere maintenance 2, homolog	186						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding				0		Hepatocellular(780;0.219)																---	---	---	---
IFT140	9742	broad.mit.edu	37	16	1633330	1633330	+	Missense_Mutation	SNP	C	T	T	rs149642543		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1633330C>T	uc002cmb.2	-	12	1779	c.1417G>A	c.(1417-1419)GCG>ACG	p.A473T	IFT140_uc002clz.2_Missense_Mutation_p.A124T	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	intraflagellar transport 140	473										ovary(3)|pancreas(1)|skin(1)	5		Hepatocellular(780;0.219)																---	---	---	---
CRAMP1L	57585	broad.mit.edu	37	16	1710020	1710020	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1710020G>A	uc010uvh.1	+	10	2369	c.2369G>A	c.(2368-2370)CGC>CAC	p.R790H	CRAMP1L_uc002cmf.2_RNA	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Crm, cramped-like	790						nucleus	DNA binding				0																		---	---	---	---
SPSB3	90864	broad.mit.edu	37	16	1828000	1828000	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1828000G>A	uc002cmr.2	-	4	575	c.542C>T	c.(541-543)ACG>ATG	p.T181M	SPSB3_uc002cms.2_Missense_Mutation_p.T53M|SPSB3_uc002cmt.2_Missense_Mutation_p.T53M|SPSB3_uc002cmu.2_Missense_Mutation_p.T181M|SPSB3_uc002cmv.2_Missense_Mutation_p.T53M|SPSB3_uc010uvm.1_3'UTR	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box	181	B30.2/SPRY.				intracellular signal transduction						0																		---	---	---	---
IGFALS	3483	broad.mit.edu	37	16	1841082	1841082	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1841082A>C	uc002cmy.2	-	2	1418	c.1337T>G	c.(1336-1338)CTC>CGC	p.L446R	IGFALS_uc010uvn.1_Missense_Mutation_p.L484R|IGFALS_uc010uvo.1_Missense_Mutation_p.L80R	NM_004970	NP_004961	P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid	446	LRR 16.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding				0																		---	---	---	---
HAGH	3029	broad.mit.edu	37	16	1867159	1867159	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:1867159C>T	uc002cna.2	-						HAGH_uc002cmz.2_Intron|HAGH_uc010uvp.1_Intron|HAGH_uc002cnb.1_Intron	NM_005326	NP_005317			hydroxyacylglutathione hydrolase isoform 1						glutathione biosynthetic process	cytoplasm|mitochondrial matrix|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			ovary(1)	1		Hepatocellular(780;0.00335)			Glutathione(DB00143)													---	---	---	---
ZNF598	90850	broad.mit.edu	37	16	2049492	2049492	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2049492C>T	uc002cof.1	-						ZNF598_uc002coe.1_Intron	NM_178167	NP_835461			zinc finger protein 598							intracellular	zinc ion binding			lung(1)|breast(1)	2																		---	---	---	---
ZNF598	90850	broad.mit.edu	37	16	2050479	2050479	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2050479G>T	uc002cof.1	-	10	1220	c.1205C>A	c.(1204-1206)CCC>CAC	p.P402H	ZNF598_uc002coe.1_5'UTR	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN	zinc finger protein 598	402						intracellular	zinc ion binding			lung(1)|breast(1)	2																		---	---	---	---
TSC2	7249	broad.mit.edu	37	16	2121606	2121606	+	Silent	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2121606C>A	uc002con.2	+	18	2041	c.1935C>A	c.(1933-1935)GTC>GTA	p.V645V	TSC2_uc010bsd.2_Silent_p.V645V|TSC2_uc002coo.2_Silent_p.V645V|TSC2_uc010uvv.1_Silent_p.V608V|TSC2_uc010uvw.1_Silent_p.V596V|TSC2_uc002cop.2_Silent_p.V445V	NM_000548	NP_000539	P49815	TSC2_HUMAN	tuberous sclerosis 2 isoform 1	645					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10		Hepatocellular(780;0.0202)						D|Mis|N|F|S			hamartoma|renal cell			Tuberous_Sclerosis				---	---	---	---
TRAF7	84231	broad.mit.edu	37	16	2223566	2223566	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2223566G>A	uc002cow.2	+							NM_032271	NP_115647			TNF receptor-associated factor 7						activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3																		---	---	---	---
TBC1D24	57465	broad.mit.edu	37	16	2546268	2546268	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2546268G>A	uc002cql.2	+	2	259	c.119G>A	c.(118-120)CGC>CAC	p.R40H	TBC1D24_uc002cqk.2_Missense_Mutation_p.R40H|TBC1D24_uc002cqm.2_Missense_Mutation_p.R40H|TBC1D24_uc010bsm.2_5'Flank	NM_020705	NP_065756	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	40					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity				0																		---	---	---	---
AMDHD2	51005	broad.mit.edu	37	16	2577803	2577803	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2577803C>T	uc002cqq.2	+	5	542	c.445C>T	c.(445-447)CGG>TGG	p.R149W	AMDHD2_uc002cqp.2_Missense_Mutation_p.R149W|AMDHD2_uc010uwc.1_Missense_Mutation_p.R149W|AMDHD2_uc010uwd.1_5'UTR	NM_015944	NP_057028	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2 isoform 1	149					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			skin(2)|large_intestine(1)|breast(1)	4																		---	---	---	---
FLYWCH1	84256	broad.mit.edu	37	16	2979879	2979879	+	Missense_Mutation	SNP	G	A	A	rs112444415		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:2979879G>A	uc002csd.2	+	3	556	c.193G>A	c.(193-195)GTC>ATC	p.V65I	FLYWCH1_uc002csb.2_Missense_Mutation_p.V65I|FLYWCH1_uc002csc.2_Missense_Mutation_p.V65I	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1 isoform a	65						nucleus	DNA binding|metal ion binding				0																		---	---	---	---
CLDN6	9074	broad.mit.edu	37	16	3065782	3065782	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3065782G>A	uc002csu.3	-	2	301	c.241C>T	c.(241-243)CGT>TGT	p.R81C		NM_021195	NP_067018	P56747	CLD6_HUMAN	claudin 6	81	Extracellular (Potential).				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity				0																		---	---	---	---
ZNF263	10127	broad.mit.edu	37	16	3340004	3340004	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3340004G>A	uc002cuq.2	+	6	1830	c.1498G>A	c.(1498-1500)GCT>ACT	p.A500T	ZNF263_uc010uww.1_Missense_Mutation_p.A148T|ZNF263_uc002cur.2_Missense_Mutation_p.A148T	NM_005741	NP_005732	O14978	ZN263_HUMAN	zinc finger protein 263	500	C2H2-type 4.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(3)|ovary(1)	4																		---	---	---	---
TRAP1	10131	broad.mit.edu	37	16	3714425	3714425	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3714425C>T	uc002cvt.3	-	13	1508	c.1419G>A	c.(1417-1419)TCG>TCA	p.S473S	TRAP1_uc002cvs.2_Silent_p.S264S|TRAP1_uc010uxf.1_Silent_p.S420S|uc002cvu.2_RNA	NM_016292	NP_057376	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1 precursor	473					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(1)	1		Ovarian(90;0.0261)																---	---	---	---
GLIS2	84662	broad.mit.edu	37	16	4382338	4382338	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4382338G>A	uc002cwc.1	+	1	114	c.57G>A	c.(55-57)GCG>GCA	p.A19A		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	19					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding				0																		---	---	---	---
CORO7	79585	broad.mit.edu	37	16	4457512	4457512	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4457512C>A	uc002cwh.3	-	5	597	c.477G>T	c.(475-477)CAG>CAT	p.Q159H	CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.Q159H|CORO7_uc002cwg.3_Intron|CORO7_uc010uxh.1_Missense_Mutation_p.Q141H|CORO7_uc010uxi.1_Intron|CORO7_uc002cwi.1_Intron|CORO7_uc010uxj.1_Intron|CORO7_uc010btp.1_Intron|CORO7_uc010btr.1_RNA	NM_024535	NP_078811	P57737	CORO7_HUMAN	coronin 7	159	WD 2.					cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction					0																		---	---	---	---
ANKS3	124401	broad.mit.edu	37	16	4776971	4776971	+	Intron	SNP	G	A	A	rs142047315	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4776971G>A	uc002cxj.1	-						ANKS3_uc002cxi.1_Intron|ANKS3_uc002cxk.2_Intron|ANKS3_uc002cxl.2_Intron|ANKS3_uc010uxs.1_Intron|ANKS3_uc002cxm.2_Intron	NM_133450	NP_597707			ankyrin repeat and sterile alpha motif domain												0																		---	---	---	---
ZNF500	26048	broad.mit.edu	37	16	4802835	4802835	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4802835C>T	uc002cxp.1	-	6	1232	c.985G>A	c.(985-987)GAA>AAA	p.E329K	ZNF500_uc002cxo.1_Missense_Mutation_p.E121K|ZNF500_uc010uxt.1_Missense_Mutation_p.E329K	NM_021646	NP_067678	O60304	ZN500_HUMAN	zinc finger protein 500	329	C2H2-type 1.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)|skin(1)	3																		---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4903054	4903054	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4903054C>T	uc002cyb.2	+	2	475	c.136C>T	c.(136-138)CGG>TGG	p.R46W	UBN1_uc010uxw.1_Missense_Mutation_p.R46W|UBN1_uc002cyc.2_Missense_Mutation_p.R46W	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	46	Sufficient for interaction with HIRA.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2																		---	---	---	---
PPL	5493	broad.mit.edu	37	16	4933850	4933850	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4933850C>T	uc002cyd.1	-	22	4896	c.4806G>A	c.(4804-4806)GCG>GCA	p.A1602A		NM_002705	NP_002696	O60437	PEPL_HUMAN	periplakin	1602	Potential.				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			ovary(4)|central_nervous_system(1)|skin(1)	6																		---	---	---	---
C16orf68	79091	broad.mit.edu	37	16	8738424	8738424	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8738424A>G	uc002cyz.2	+	10	1297	c.1021A>G	c.(1021-1023)ACA>GCA	p.T341A	C16orf68_uc002cza.2_Missense_Mutation_p.T285A|C16orf68_uc002czb.2_5'Flank	NM_024109	NP_077014	Q9BUU2	MET22_HUMAN	hypothetical protein LOC79091	341							methyltransferase activity				0																		---	---	---	---
TMEM186	25880	broad.mit.edu	37	16	8889849	8889849	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8889849C>T	uc002cze.2	-	2	636	c.602G>A	c.(601-603)CGT>CAT	p.R201H	PMM2_uc002czf.3_5'Flank|PMM2_uc010uyf.1_5'Flank|PMM2_uc010uyg.1_5'Flank|PMM2_uc010uyh.1_5'Flank|PMM2_uc010buj.2_5'Flank|PMM2_uc010uyi.1_5'Flank|PMM2_uc010uye.1_5'Flank	NM_015421	NP_056236	Q96B77	TM186_HUMAN	transmembrane protein 186	201						integral to membrane|mitochondrion		p.R201H(1)		ovary(1)	1																		---	---	---	---
CARHSP1	23589	broad.mit.edu	37	16	8953080	8953080	+	Missense_Mutation	SNP	C	T	T	rs2231705		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8953080C>T	uc002czh.1	-	2	456	c.106G>A	c.(106-108)GGC>AGC	p.G36S	PMM2_uc002czg.1_Intron|CARHSP1_uc002czi.1_Missense_Mutation_p.G36S	NM_001042476	NP_001035941	Q9Y2V2	CHSP1_HUMAN	calcium-regulated heat-stable protein 1	36					intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding				0																		---	---	---	---
USP7	7874	broad.mit.edu	37	16	8996253	8996253	+	Silent	SNP	G	A	A	rs140316737		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8996253G>A	uc002czl.2	-	17	2125	c.1926C>T	c.(1924-1926)GCC>GCT	p.A642A	USP7_uc010uyk.1_Silent_p.A543A|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.A543A|USP7_uc002czk.2_Silent_p.A626A|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	642	Interaction with ICP0/VMW110.				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																		---	---	---	---
USP7	7874	broad.mit.edu	37	16	8998369	8998369	+	Silent	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8998369G>T	uc002czl.2	-	15	1826	c.1627C>A	c.(1627-1629)CGA>AGA	p.R543R	USP7_uc010uyk.1_Silent_p.R444R|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Silent_p.R444R|USP7_uc002czk.2_Silent_p.R527R|USP7_uc010uyl.1_RNA	NM_003470	NP_003461	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7	543					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																		---	---	---	---
RSL1D1	26156	broad.mit.edu	37	16	11933826	11933826	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11933826C>T	uc002dbp.1	-	8	945	c.872G>A	c.(871-873)CGA>CAA	p.R291Q	RSL1D1_uc010buv.1_Missense_Mutation_p.R290Q|RSL1D1_uc010uyw.1_Missense_Mutation_p.R71Q|RSL1D1_uc010buw.2_RNA	NM_015659	NP_056474	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	291	Potential.				regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome				0																		---	---	---	---
NPIP	9284	broad.mit.edu	37	16	15045883	15045883	+	3'UTR	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15045883G>C	uc002dcy.3	+	8					NPIP_uc002dcx.3_RNA	NM_006985	NP_008916			nuclear pore complex interacting protein						mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore					0																		---	---	---	---
NDE1	54820	broad.mit.edu	37	16	15788102	15788102	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15788102C>T	uc002ddt.1	+	6	827	c.784C>T	c.(784-786)CGG>TGG	p.R262W	NDE1_uc010uzy.1_Missense_Mutation_p.R262W|NDE1_uc002dds.2_Missense_Mutation_p.R262W|NDE1_uc002ddu.1_Missense_Mutation_p.R199W	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	nuclear distribution gene E homolog 1	262	Interaction with CENPF (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			ovary(1)	1																		---	---	---	---
TMC5	79838	broad.mit.edu	37	16	19492724	19492724	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19492724G>A	uc002dgc.3	+	15	3049	c.2300G>A	c.(2299-2301)GGC>GAC	p.G767D	TMC5_uc010vaq.1_Missense_Mutation_p.G715D|TMC5_uc002dgb.3_Missense_Mutation_p.G767D|TMC5_uc010var.1_Missense_Mutation_p.G767D|TMC5_uc002dgd.1_Missense_Mutation_p.G521D|TMC5_uc002dge.3_Missense_Mutation_p.G521D|TMC5_uc002dgf.3_Missense_Mutation_p.G450D|TMC5_uc002dgg.3_Missense_Mutation_p.G408D	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5 isoform a	767	Cytoplasmic (Potential).					integral to membrane				skin(1)	1																		---	---	---	---
DNAH3	55567	broad.mit.edu	37	16	20996750	20996750	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20996750G>A	uc010vbe.1	-	48	7314	c.7314C>T	c.(7312-7314)AGC>AGT	p.S2438S	DNAH3_uc010vbd.1_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2438	ATP (Potential).|AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18				GBM - Glioblastoma multiforme(48;0.207)														---	---	---	---
TMEM159	57146	broad.mit.edu	37	16	21185430	21185430	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21185430T>G	uc002dif.3	+	4	726	c.365T>G	c.(364-366)GTA>GGA	p.V122G	TMEM159_uc002dig.3_RNA|TMEM159_uc010vbf.1_Missense_Mutation_p.V146G|TMEM159_uc002dih.3_Missense_Mutation_p.V122G	NM_020422	NP_065155	Q96B96	TM159_HUMAN	transmembrane protein 159	122	Helical; (Potential).					integral to membrane				ovary(1)	1				GBM - Glioblastoma multiforme(48;0.0972)														---	---	---	---
ZP2	7783	broad.mit.edu	37	16	21213561	21213561	+	Missense_Mutation	SNP	C	T	T	rs144403520		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21213561C>T	uc002dii.2	-	11	1151	c.1151G>A	c.(1150-1152)AGC>AAC	p.S384N	ZP2_uc010bwn.1_Missense_Mutation_p.S423N	NM_003460	NP_003451	Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 preproprotein	384	Extracellular (Potential).|ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			central_nervous_system(2)|ovary(1)	3				GBM - Glioblastoma multiforme(48;0.0573)														---	---	---	---
USP31	57478	broad.mit.edu	37	16	23079454	23079454	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23079454C>T	uc002dll.2	-	16	3972	c.3972G>A	c.(3970-3972)CCG>CCA	p.P1324P	USP31_uc002dlk.2_Silent_p.P596P|USP31_uc010vca.1_Silent_p.P627P|USP31_uc010bxm.2_Silent_p.P612P	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	1324					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1)	10				GBM - Glioblastoma multiforme(48;0.0187)														---	---	---	---
GGA2	23062	broad.mit.edu	37	16	23504692	23504692	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23504692A>C	uc002dlq.2	-	4	416	c.340T>G	c.(340-342)TTG>GTG	p.L114V	GGA2_uc010bxo.1_RNA	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	ADP-ribosylation factor binding protein 2	114	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	p.L114L(1)		ovary(1)|central_nervous_system(1)	2				GBM - Glioblastoma multiforme(48;0.0386)														---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24788435	24788435	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24788435G>A	uc002dmm.2	+	5	459	c.345G>A	c.(343-345)CCG>CCA	p.P115P	TNRC6A_uc010bxs.2_5'UTR	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	115	Gln-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			ovary(2)	2				GBM - Glioblastoma multiforme(48;0.0394)														---	---	---	---
SULT1A2	6799	broad.mit.edu	37	16	28606997	28606997	+	Splice_Site	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28606997C>A	uc002dqg.1	-	3	500	c.149_splice	c.e3-1	p.G50_splice	uc010vct.1_Intron|SULT1A2_uc002dqh.1_Splice_Site_p.G50_splice	NM_177528	NP_803564			sulfotransferase family, cytosolic, 1A,						3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0																		---	---	---	---
SULT1A1	6817	broad.mit.edu	37	16	28619925	28619925	+	Splice_Site	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28619925C>A	uc002dqi.2	-	2	622	c.149_splice	c.e2-1	p.G50_splice	uc010vct.1_Intron|SULT1A1_uc002dqj.2_Splice_Site_p.G50_splice|SULT1A1_uc002dqk.2_Splice_Site_p.G50_splice|SULT1A1_uc002dql.2_Splice_Site_p.G50_splice|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Splice_Site_p.G141_splice|SULT1A1_uc002dqo.2_Splice_Site_p.G50_splice|SULT1A1_uc002dqp.2_Splice_Site_p.G50_splice	NM_177534	NP_803878			sulfotransferase family, cytosolic, 1A,						3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity				0																		---	---	---	---
TUFM	7284	broad.mit.edu	37	16	28857350	28857350	+	Missense_Mutation	SNP	G	A	A	rs11542261		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:28857350G>A	uc002drh.2	-	2	269	c.130C>T	c.(130-132)CGC>TGC	p.R44C	uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	41						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			ovary(1)	1																		---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29994385	29994385	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29994385G>A	uc002dva.1	+						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Intron|TAOK2_uc002dvc.1_Intron|TAOK2_uc010bzm.1_Missense_Mutation_p.C338Y|TAOK2_uc002dvd.1_Intron	NM_016151	NP_057235			TAO kinase 2 isoform 2						actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---
TAOK2	9344	broad.mit.edu	37	16	29996571	29996571	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:29996571C>T	uc002dva.1	+	14	2243	c.1460C>T	c.(1459-1461)GCG>GTG	p.A487V	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Missense_Mutation_p.A487V|TAOK2_uc002dvc.1_Missense_Mutation_p.A487V|TAOK2_uc010bzm.1_Missense_Mutation_p.A494V|TAOK2_uc002dvd.1_Missense_Mutation_p.A314V	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	TAO kinase 2 isoform 2	487	Potential.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			ovary(1)	1																		---	---	---	---
SEPHS2	22928	broad.mit.edu	37	16	30455815	30455815	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30455815G>A	uc010ves.1	-	2	1410	c.1234C>T	c.(1234-1236)CGA>TGA	p.R412*	SEPHS2_uc002dyh.1_Nonsense_Mutation_p.R355*|SEPHS2_uc010vet.1_Nonsense_Mutation_p.R294*	NM_012248	NP_036380	Q99611	SPS2_HUMAN	selenophosphate synthetase 2	412					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(2)	2																		---	---	---	---
ZNF764	92595	broad.mit.edu	37	16	30566704	30566704	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30566704C>T	uc002dyq.2	-	3	1119	c.1038G>A	c.(1036-1038)CCG>CCA	p.P346P	ZNF764_uc002dyr.1_Silent_p.P345P	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	zinc finger protein 764	346	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF764	92595	broad.mit.edu	37	16	30566822	30566822	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30566822C>T	uc002dyq.2	-	3	1001	c.920G>A	c.(919-921)CGC>CAC	p.R307H	ZNF764_uc002dyr.1_Missense_Mutation_p.R306H	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	zinc finger protein 764	307	C2H2-type 5.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
ZNF785	146540	broad.mit.edu	37	16	30594308	30594308	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30594308C>T	uc002dyw.1	-	3	869	c.791G>A	c.(790-792)CGC>CAC	p.R264H	uc002dyu.2_RNA|ZNF785_uc002dyv.1_Missense_Mutation_p.R249H|ZNF785_uc010vez.1_Missense_Mutation_p.R229H	NM_152458	NP_689671	A8K8V0	ZN785_HUMAN	zinc finger protein 785	264	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30732215	30732215	+	Missense_Mutation	SNP	G	A	A	rs141288104		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30732215G>A	uc002dze.1	+	20	3554	c.3169G>A	c.(3169-3171)GGG>AGG	p.G1057R	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.G914R|SRCAP_uc010bzz.1_Missense_Mutation_p.G627R	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1057	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)															---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30734042	30734042	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30734042C>A	uc002dze.1	+	23	4250	c.3865C>A	c.(3865-3867)CTC>ATC	p.L1289I	SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Intron|SRCAP_uc010bzz.1_Missense_Mutation_p.L859I	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	1289	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)															---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30744600	30744600	+	Splice_Site	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30744600G>A	uc002dze.1	+	28	6513	c.6128_splice	c.e28-1	p.G2043_splice	SRCAP_uc002dzf.2_Splice_Site|SRCAP_uc002dzg.1_Splice_Site_p.G1838_splice	NM_006662	NP_006653			Snf2-related CBP activator protein						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)															---	---	---	---
RNF40	9810	broad.mit.edu	37	16	30785352	30785352	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30785352C>T	uc002dzq.2	+	20	3046	c.2923C>T	c.(2923-2925)CGC>TGC	p.R975C	RNF40_uc010caa.2_Missense_Mutation_p.R974C|RNF40_uc010cab.2_Missense_Mutation_p.R875C|RNF40_uc010vfa.1_Missense_Mutation_p.R307C|RNF40_uc002dzr.2_Missense_Mutation_p.R975C|RNF40_uc010vfb.1_Missense_Mutation_p.R667C	NM_014771	NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40	975	RING-type.				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)	1			Colorectal(24;0.198)															---	---	---	---
ORAI3	93129	broad.mit.edu	37	16	30964716	30964716	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30964716G>A	uc002eac.2	+	2	645	c.439G>A	c.(439-441)GTG>ATG	p.V147M		NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator	147						integral to membrane	protein binding				0																OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
SETD1A	9739	broad.mit.edu	37	16	30990970	30990970	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30990970G>A	uc002ead.1	+	14	4549	c.3863G>A	c.(3862-3864)CGC>CAC	p.R1288H		NM_014712	NP_055527	O15047	SET1A_HUMAN	SET domain containing 1A	1288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			ovary(2)|skin(1)	3																		---	---	---	---
ZNF668	79759	broad.mit.edu	37	16	31072900	31072900	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31072900G>A	uc010caf.2	-	3	1706	c.1349C>T	c.(1348-1350)GCG>GTG	p.A450V	ZNF668_uc002eao.2_Missense_Mutation_p.A450V	NM_024706	NP_078982	Q96K58	ZN668_HUMAN	zinc finger protein 668	450					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)	4																		---	---	---	---
PRSS53	339105	broad.mit.edu	37	16	31099137	31099137	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31099137G>A	uc002eaq.2	-	2	69	c.69C>T	c.(67-69)GCC>GCT	p.A23A	PRSS53_uc002ear.2_5'UTR	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	polyserase 3 precursor	23					proteolysis	extracellular region	serine-type endopeptidase activity				0																		---	---	---	---
TRIM72	493829	broad.mit.edu	37	16	31230743	31230743	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31230743G>A	uc002ebn.1	+	4	849	c.620G>A	c.(619-621)CGG>CAG	p.R207Q	PYDC1_uc002ebo.2_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	tripartite motif-containing 72	207					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding				0																		---	---	---	---
ARMC5	79798	broad.mit.edu	37	16	31470964	31470964	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31470964T>C	uc002ecc.2	+	1	648	c.119T>C	c.(118-120)CTG>CCG	p.L40P	ARMC5_uc010vfn.1_Missense_Mutation_p.L135P|ARMC5_uc010vfo.1_Missense_Mutation_p.L72P|ARMC5_uc002eca.3_Missense_Mutation_p.L40P|ARMC5_uc010vfp.1_Missense_Mutation_p.L40P|ARMC5_uc002ecb.2_Missense_Mutation_p.L40P	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5 isoform a	40							binding			pancreas(1)	1																		---	---	---	---
SLC5A2	6524	broad.mit.edu	37	16	31501450	31501450	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31501450G>A	uc002ecf.3	+	13	1710	c.1691G>A	c.(1690-1692)CGG>CAG	p.R564Q	SLC5A2_uc010car.2_RNA|C16orf58_uc002ecg.2_5'Flank|C16orf58_uc002ech.1_3'UTR|C16orf58_uc002eci.1_3'UTR	NM_003041	NP_003032	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose	564	Cytoplasmic (Potential).				carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			ovary(1)	1																		---	---	---	---
NETO2	81831	broad.mit.edu	37	16	47117523	47117523	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:47117523G>A	uc002eer.1	-	9	1572	c.1187C>T	c.(1186-1188)CCT>CTT	p.P396L	NETO2_uc002eeq.1_Missense_Mutation_p.P131L|NETO2_uc010vgf.1_Missense_Mutation_p.P253L	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	396	Cytoplasmic (Potential).					integral to membrane	receptor activity				0		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)													HNSCC(25;0.065)			---	---	---	---
ABCC11	85320	broad.mit.edu	37	16	48232052	48232052	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:48232052C>T	uc002eff.1	-	15	2567	c.2217G>A	c.(2215-2217)TCG>TCA	p.S739S	ABCC11_uc002efg.1_Silent_p.S739S|ABCC11_uc002efh.1_Silent_p.S739S|ABCC11_uc010vgk.1_RNA	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C, member 11	739	Cytoplasmic (Potential).					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(3)|skin(2)|central_nervous_system(1)	6		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)												Cerumen_Type				---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49670971	49670971	+	Missense_Mutation	SNP	C	T	T	rs148732968		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49670971C>T	uc002efs.2	-	5	2390	c.2092G>A	c.(2092-2094)GAC>AAC	p.D698N	ZNF423_uc010vgn.1_Missense_Mutation_p.D581N	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	698	C2H2-type 16.				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)																---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51174641	51174641	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:51174641G>A	uc010vgs.1	-	2	1523	c.1492C>T	c.(1492-1494)CGC>TGC	p.R498C	SALL1_uc010vgr.1_Missense_Mutation_p.R401C|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	498	C2H2-type 2.				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)															---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57060074	57060074	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57060074G>A	uc002ekk.1	+	6	1444	c.1219G>A	c.(1219-1221)GCA>ACA	p.A407T	NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.A212T|NLRC5_uc002ekl.2_Missense_Mutation_p.A212T|NLRC5_uc002ekm.2_Missense_Mutation_p.A212T|NLRC5_uc010ccr.1_RNA	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	nucleotide-binding oligomerization domains 27	407	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			ovary(4)|skin(2)|breast(1)	7		all_neural(199;0.225)																---	---	---	---
GPR114	221188	broad.mit.edu	37	16	57596318	57596318	+	Silent	SNP	C	T	T	rs115132653	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57596318C>T	uc002elx.3	+	3	172	c.87C>T	c.(85-87)AGC>AGT	p.S29S	GPR114_uc010vhr.1_Silent_p.S29S|GPR114_uc002ely.2_Silent_p.S29S	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114 precursor	29	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)	1																		---	---	---	---
GPR56	9289	broad.mit.edu	37	16	57689781	57689781	+	Intron	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57689781T>C	uc002emb.2	+						GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_Intron|GPR56_uc002emc.2_Intron|GPR56_uc002emf.2_Intron|GPR56_uc010vhs.1_Intron|GPR56_uc002emd.2_Intron|GPR56_uc002eme.2_Intron|GPR56_uc010vht.1_Intron|GPR56_uc002emg.3_Intron|GPR56_uc010vhu.1_Intron	NM_005682	NP_005673			G protein-coupled receptor 56 isoform a						brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity				0																		---	---	---	---
KIFC3	3801	broad.mit.edu	37	16	57794729	57794729	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57794729C>T	uc002emp.2	-	16	2338	c.2141G>A	c.(2140-2142)CGC>CAC	p.R714H	KIFC3_uc010vhw.1_Missense_Mutation_p.R612H|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Missense_Mutation_p.R575H|KIFC3_uc010vhx.1_Missense_Mutation_p.R572H|KIFC3_uc010cdf.2_Missense_Mutation_p.R575H|KIFC3_uc002emo.3_Missense_Mutation_p.R575H|KIFC3_uc010vhy.1_Missense_Mutation_p.R656H|KIFC3_uc002emq.2_Missense_Mutation_p.R714H|KIFC3_uc010vhz.1_Missense_Mutation_p.R736H	NM_005550	NP_005541	Q9BVG8	KIFC3_HUMAN	kinesin family member C3 isoform 1	714					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			central_nervous_system(2)|ovary(1)	3		all_neural(199;0.224)																---	---	---	---
ZNF319	57567	broad.mit.edu	37	16	58031068	58031068	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58031068C>A	uc002emx.1	-	2	1725	c.1102G>T	c.(1102-1104)GAG>TAG	p.E368*		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
PRSS54	221191	broad.mit.edu	37	16	58324952	58324952	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58324952C>T	uc002enf.2	-	4	569	c.174G>A	c.(172-174)TCG>TCA	p.S58S	PRSS54_uc002eng.2_Silent_p.S58S|PRSS54_uc010vie.1_Intron	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	plasma kallikrein-like protein 4 precursor	58	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3																		---	---	---	---
CNOT1	23019	broad.mit.edu	37	16	58582512	58582512	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58582512C>T	uc002env.2	-						CNOT1_uc002enw.2_Intron|CNOT1_uc002enu.3_Intron|CNOT1_uc002enx.2_Intron|CNOT1_uc010vik.1_Intron|SNORA46_uc002eny.1_RNA	NM_016284	NP_057368			CCR4-NOT transcription complex, subunit 1						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				ovary(4)|central_nervous_system(2)	6				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)														---	---	---	---
CES3	23491	broad.mit.edu	37	16	66998516	66998516	+	Intron	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66998516A>G	uc002eqt.2	+						CES3_uc010cdz.2_Intron|CES3_uc010cea.2_Intron|CES3_uc010viw.1_5'Flank	NM_024922	NP_079198			carboxylesterase 3 precursor							endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			ovary(3)|central_nervous_system(2)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)														---	---	---	---
CES8	283848	broad.mit.edu	37	16	67042892	67042892	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67042892G>A	uc002eqv.2	+	12	1366	c.1323G>A	c.(1321-1323)GGG>GGA	p.G441G	CES8_uc010vix.1_Missense_Mutation_p.G444E|CES8_uc002eqw.2_Missense_Mutation_p.G417E|CES8_uc002eqy.2_Silent_p.G413G|CES8_uc002eqx.2_Silent_p.G317G|CES8_uc010viy.1_Missense_Mutation_p.G350E|CES8_uc010viz.1_Silent_p.G413G|CES8_uc002eqz.2_RNA	NM_173815	NP_776176	Q5XG92	EST4A_HUMAN	carboxylesterase 8 (putative)	511						extracellular region	carboxylesterase activity				0																		---	---	---	---
EXOC3L	283849	broad.mit.edu	37	16	67221173	67221173	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67221173G>A	uc002erx.1	-	5	1236	c.995C>T	c.(994-996)GCG>GTG	p.A332V	EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_Intron|EXOC3L_uc002ery.1_Missense_Mutation_p.A276V|EXOC3L_uc010vje.1_Missense_Mutation_p.A271V	NM_178516	NP_848611	Q86VI1	EX3L1_HUMAN	exocyst complex component 3-like	332	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)														---	---	---	---
PLEKHG4	25894	broad.mit.edu	37	16	67322226	67322226	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67322226G>A	uc002eso.3	+	19	5912	c.3377G>A	c.(3376-3378)CGC>CAC	p.R1126H	PLEKHG4_uc002esp.3_Missense_Mutation_p.R933H|PLEKHG4_uc002esq.3_Missense_Mutation_p.R1126H|PLEKHG4_uc010cef.2_Missense_Mutation_p.R1126H|PLEKHG4_uc002ess.3_Missense_Mutation_p.R1126H|PLEKHG4_uc010ceg.2_Missense_Mutation_p.R1045H	NM_015432	NP_056247	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G	1126					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)|pancreas(1)	2				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)														---	---	---	---
PSKH1	5681	broad.mit.edu	37	16	67942751	67942751	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67942751C>T	uc002euv.2	+	2	269	c.99C>T	c.(97-99)GAC>GAT	p.D33D	PSKH1_uc010cet.2_Silent_p.D33D	NM_006742	NP_006733	P11801	KPSH1_HUMAN	protein serine kinase H1	33						endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity				0		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)														---	---	---	---
NFATC3	4775	broad.mit.edu	37	16	68156559	68156559	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68156559G>A	uc002evo.1	+	2	983	c.773G>A	c.(772-774)AGG>AAG	p.R258K	NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.R258K|NFATC3_uc002evm.1_Missense_Mutation_p.R258K|NFATC3_uc002evn.1_Missense_Mutation_p.R258K|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells,	258	3 X SP repeats.				inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	3		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)														---	---	---	---
SMPD3	55512	broad.mit.edu	37	16	68404954	68404954	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68404954C>T	uc002ewa.2	-	3	1553	c.1131G>A	c.(1129-1131)CAG>CAA	p.Q377Q	SMPD3_uc010cfe.2_Silent_p.Q377Q|SMPD3_uc010vlh.1_Silent_p.Q377Q	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	377	Lumenal (Potential).				cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			skin(1)	1		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)													---	---	---	---
TMCO7	79613	broad.mit.edu	37	16	68893837	68893837	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68893837A>G	uc002ewi.3	+	2	157	c.145A>G	c.(145-147)ACT>GCT	p.T49A	TMCO7_uc002ewh.2_Missense_Mutation_p.T49A	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	transmembrane and coiled-coil domains 7	49						integral to membrane	binding				0		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)														---	---	---	---
HAS3	3038	broad.mit.edu	37	16	69143442	69143442	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69143442C>T	uc010cfh.2	+	2	368	c.144C>T	c.(142-144)TAC>TAT	p.Y48Y	HAS3_uc002ewk.2_Silent_p.Y48Y|HAS3_uc010vlk.1_Silent_p.Y48Y|HAS3_uc002ewl.2_Silent_p.Y48Y	NM_005329	NP_005320	O00219	HAS3_HUMAN	hyaluronan synthase 3 isoform a	48	Helical; Name=2; (Potential).				carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity				0		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)														---	---	---	---
ST3GAL2	6483	broad.mit.edu	37	16	70432300	70432300	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:70432300G>A	uc002eyw.2	-	1	2242	c.134C>T	c.(133-135)ACG>ATG	p.T45M	ST3GAL2_uc002eyx.2_Missense_Mutation_p.T45M	NM_006927	NP_008858	Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase	45	Lumenal (Potential).				amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			ovary(1)	1		Ovarian(137;0.0694)																---	---	---	---
CHST4	10164	broad.mit.edu	37	16	71570700	71570700	+	Silent	SNP	C	T	T	rs143274002		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71570700C>T	uc002fan.2	+	2	301	c.120C>T	c.(118-120)CCC>CCT	p.P40P	CHST4_uc002fao.2_Silent_p.P40P	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O)	40	Lumenal (Potential).				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity				0																		---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72845839	72845839	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72845839G>A	uc002fck.2	-	6	4301	c.3628C>T	c.(3628-3630)CGA>TGA	p.R1210*	ZFHX3_uc002fcl.2_Nonsense_Mutation_p.R296*	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	1210					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)																---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72993280	72993280	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72993280G>A	uc002fck.2	-	2	1438	c.765C>T	c.(763-765)TGC>TGT	p.C255C	ZFHX3_uc002fcl.2_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3 isoform A	255					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)																---	---	---	---
PSMD7	5713	broad.mit.edu	37	16	74338254	74338254	+	Silent	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74338254A>T	uc002fcq.2	+	6	624	c.492A>T	c.(490-492)GCA>GCT	p.A164A	PSMD7_uc010vmr.1_Silent_p.A87A	NM_002811	NP_002802	P51665	PSD7_HUMAN	proteasome 26S non-ATPase subunit 7	164					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				0																		---	---	---	---
GLG1	2734	broad.mit.edu	37	16	74537581	74537581	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:74537581G>A	uc002fcy.3	-	4	672	c.622C>T	c.(622-624)CGA>TGA	p.R208*	GLG1_uc002fcx.2_Nonsense_Mutation_p.R208*|GLG1_uc002fcw.3_Nonsense_Mutation_p.R197*|GLG1_uc002fcz.3_5'UTR	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN	golgi apparatus protein 1 isoform 3	208	Cys-rich GLG1 2.|Extracellular (Potential).					Golgi membrane|integral to membrane	receptor binding			ovary(1)|breast(1)	2																		---	---	---	---
BCAR1	9564	broad.mit.edu	37	16	75263717	75263717	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75263717C>T	uc002fdv.2	-	7	2428	c.2305G>A	c.(2305-2307)GTG>ATG	p.V769M	BCAR1_uc002fdt.2_Missense_Mutation_p.V222M|BCAR1_uc002fdu.2_Missense_Mutation_p.V559M|BCAR1_uc010cgu.2_Missense_Mutation_p.V758M|BCAR1_uc010vna.1_Missense_Mutation_p.V767M|BCAR1_uc010vnb.1_Missense_Mutation_p.V815M|BCAR1_uc002fdw.2_Missense_Mutation_p.V769M|BCAR1_uc010vnc.1_Missense_Mutation_p.V621M|BCAR1_uc010vnd.1_Missense_Mutation_p.V787M|BCAR1_uc002fdx.2_Missense_Mutation_p.V787M	NM_014567	NP_055382	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	769	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)														---	---	---	---
KARS	3735	broad.mit.edu	37	16	75669879	75669879	+	Silent	SNP	C	T	T	rs143003475		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:75669879C>T	uc002feq.2	-	5	648	c.600G>A	c.(598-600)CCG>CCA	p.P200P	KARS_uc002fer.2_Silent_p.P228P|KARS_uc002fes.2_Silent_p.P44P|KARS_uc010cgz.2_Silent_p.P44P	NM_005548	NP_005539	Q15046	SYK_HUMAN	lysyl-tRNA synthetase isoform 2	200					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			ovary(2)	2					L-Lysine(DB00123)													---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76523682	76523682	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:76523682C>T	uc002feu.1	+	15	2367	c.1982C>T	c.(1981-1983)GCC>GTC	p.A661V	CNTNAP4_uc002fev.1_Missense_Mutation_p.A525V|CNTNAP4_uc010chb.1_Missense_Mutation_p.A588V|CNTNAP4_uc002fex.1_Missense_Mutation_p.A664V|CNTNAP4_uc002few.2_Missense_Mutation_p.A636V	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	cell recognition protein CASPR4 isoform 1	661	Extracellular (Potential).|Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			ovary(1)|pancreas(1)	2																		---	---	---	---
ADAMTS18	170692	broad.mit.edu	37	16	77356245	77356245	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77356245G>A	uc002ffc.3	-	14	2570	c.2151C>T	c.(2149-2151)GAC>GAT	p.D717D	ADAMTS18_uc010chc.1_Silent_p.D305D|ADAMTS18_uc002ffe.1_Silent_p.D413D	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	717	Cys-rich.				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																		---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81142159	81142159	+	Intron	SNP	C	T	T	rs138630803	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81142159C>T	uc002fgh.1	-						PKD1L2_uc002fgf.1_Intron|PKD1L2_uc002fgg.1_Intron	NM_052892	NP_443124			polycystin 1-like 2 isoform a						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81145769	81145769	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81145769G>A	uc002fgh.1	-	42	6983	c.6983C>T	c.(6982-6984)GCG>GTG	p.A2328V	PKD1L2_uc002fgf.1_Missense_Mutation_p.A128V|PKD1L2_uc002fgg.1_RNA	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	polycystin 1-like 2 isoform a	2328	Helical; (Potential).				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
CMIP	80790	broad.mit.edu	37	16	81694495	81694495	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:81694495G>A	uc002fgp.2	+	6	760	c.688G>A	c.(688-690)GCT>ACT	p.A230T	CMIP_uc002fgq.1_Missense_Mutation_p.A136T|CMIP_uc010vnq.1_Missense_Mutation_p.A43T|CMIP_uc002fgr.1_Missense_Mutation_p.A77T	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	c-Maf-inducing protein isoform C-mip	196						cytoplasm|nucleus					0																		---	---	---	---
MLYCD	23417	broad.mit.edu	37	16	83948686	83948686	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:83948686G>A	uc002fgz.2	+	5	1094	c.1074G>A	c.(1072-1074)TCG>TCA	p.S358S		NM_012213	NP_036345	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase precursor	358					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity				0																		---	---	---	---
SLC38A8	146167	broad.mit.edu	37	16	84070450	84070450	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84070450A>G	uc002fhg.1	-	2	245	c.245T>C	c.(244-246)GTC>GCC	p.V82A		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	82					amino acid transport|sodium ion transport	integral to membrane					0																		---	---	---	---
USP10	9100	broad.mit.edu	37	16	84812551	84812551	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:84812551G>A	uc002fii.2	+	14	2402	c.2260G>A	c.(2260-2262)GTC>ATC	p.V754I	USP10_uc010voe.1_Missense_Mutation_p.V758I|USP10_uc010vof.1_Missense_Mutation_p.V316I|USP10_uc002fij.2_Missense_Mutation_p.V280I	NM_005153	NP_005144	Q14694	UBP10_HUMAN	ubiquitin specific protease 10	754					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity				0																		---	---	---	---
KIAA0182	23199	broad.mit.edu	37	16	85689448	85689448	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:85689448G>A	uc002fix.2	+	6	988	c.914G>A	c.(913-915)CGC>CAC	p.R305H	KIAA0182_uc002fiw.2_Missense_Mutation_p.R201H|KIAA0182_uc002fiy.2_Missense_Mutation_p.R232H	NM_014615	NP_055430	Q14687	GSE1_HUMAN	genetic suppressor element 1 isoform 1	305							protein binding			large_intestine(3)|ovary(1)|skin(1)	5																		---	---	---	---
COX4I1	1327	broad.mit.edu	37	16	85838591	85838591	+	Missense_Mutation	SNP	G	A	A	rs149461099	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:85838591G>A	uc002fje.2	+	3	286	c.122G>A	c.(121-123)CGG>CAG	p.R41Q	COX4I1_uc002fjf.2_Missense_Mutation_p.R41Q|COX4I1_uc002fjg.1_Missense_Mutation_p.R41Q|COX4I1_uc010vom.1_5'UTR	NM_001861	NP_001852	P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1	41					respiratory electron transport chain	mitochondrial inner membrane|nucleus	cytochrome-c oxidase activity|protein binding			lung(1)	1		Renal(780;0.228)																---	---	---	---
MTHFSD	64779	broad.mit.edu	37	16	86565672	86565672	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:86565672C>T	uc002fjn.2	-	8	1148	c.1097G>A	c.(1096-1098)CGC>CAC	p.R366H	MTHFSD_uc010voo.1_Missense_Mutation_p.R346H|MTHFSD_uc002fjo.2_Missense_Mutation_p.R203H|MTHFSD_uc002fjm.2_Missense_Mutation_p.R365H|MTHFSD_uc010vop.1_Missense_Mutation_p.R203H|MTHFSD_uc010voq.1_Missense_Mutation_p.R365H|MTHFSD_uc010vor.1_Missense_Mutation_p.R366H	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain	366	RRM.				folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding				0																		---	---	---	---
ZC3H18	124245	broad.mit.edu	37	16	88643558	88643558	+	Silent	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88643558G>T	uc002fky.2	+	2	227	c.27G>T	c.(25-27)CGG>CGT	p.R9R	ZC3H18_uc010voy.1_Silent_p.R9R|ZC3H18_uc010voz.1_Silent_p.R9R|ZC3H18_uc010vpa.1_Silent_p.R9R	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	9						nucleus	nucleic acid binding|zinc ion binding			skin(1)	1				BRCA - Breast invasive adenocarcinoma(80;0.0542)														---	---	---	---
CBFA2T3	863	broad.mit.edu	37	16	88945800	88945800	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:88945800G>A	uc002fmm.1	-	11	1726	c.1540C>T	c.(1540-1542)CGC>TGC	p.R514C	CBFA2T3_uc002fml.1_Missense_Mutation_p.R428C|CBFA2T3_uc002fmk.1_Missense_Mutation_p.R13C	NM_005187	NP_005178	O75081	MTG16_HUMAN	myeloid translocation gene on chromosome 16	514	Potential.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0275)				T	RUNX1	AML								---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89350037	89350037	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89350037C>T	uc002fmx.1	-	9	3374	c.2913G>A	c.(2911-2913)GCG>GCA	p.A971A	ANKRD11_uc002fmy.1_Silent_p.A971A|ANKRD11_uc002fnc.1_Silent_p.A971A|ANKRD11_uc002fnb.1_Silent_p.A928A	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	971	Lys-rich.			A -> V (in Ref. 1; AAR25661 and 2; AAS45544).		nucleus				ovary(4)|large_intestine(1)|central_nervous_system(1)	6		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)														---	---	---	---
FANCA	2175	broad.mit.edu	37	16	89805603	89805603	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:89805603C>T	uc002fou.1	-	41	4147	c.4105G>A	c.(4105-4107)GTG>ATG	p.V1369M	ZNF276_uc010ciq.2_3'UTR|ZNF276_uc002foq.3_3'UTR|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_3'UTR|ZNF276_uc010cis.2_3'UTR|ZNF276_uc002fos.3_3'UTR|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_3'UTR|FANCA_uc010vpn.1_Missense_Mutation_p.V1369M	NM_000135	NP_000126	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A isoform	1369					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)				D|Mis|N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---
DEF8	54849	broad.mit.edu	37	16	90016024	90016024	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:90016024G>A	uc002fpn.1	+	2	240	c.151G>A	c.(151-153)GCG>ACG	p.A51T	DEF8_uc002fpl.2_Intron|DEF8_uc002fpm.2_Intron|DEF8_uc002fpo.1_Intron|DEF8_uc002fpp.1_Intron|DEF8_uc010vpq.1_Intron|DEF8_uc010vpr.1_Intron	NM_207514	NP_997397	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 isoform 1	51					intracellular signal transduction		zinc ion binding			central_nervous_system(1)	1		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)														---	---	---	---
DBNDD1	79007	broad.mit.edu	37	16	90075744	90075744	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:90075744G>A	uc002fqf.1	-	2	314	c.126C>T	c.(124-126)GTC>GTT	p.V42V	DBNDD1_uc002fqe.1_Silent_p.V62V|DBNDD1_uc002fqg.1_RNA	NM_001042610	NP_001036075	Q9H9R9	DBND1_HUMAN	dysbindin (dystrobrevin binding protein 1)	42						cytoplasm					0		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0275)														---	---	---	---
VPS53	55275	broad.mit.edu	37	17	559148	559148	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:559148G>A	uc002frn.2	-	6	565	c.418C>T	c.(418-420)CGC>TGC	p.R140C	VPS53_uc002frk.2_Intron|VPS53_uc010cjo.1_Missense_Mutation_p.R140C|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.R111C|VPS53_uc002fro.2_Translation_Start_Site|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	140	Potential.				protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)														---	---	---	---
VPS53	55275	broad.mit.edu	37	17	559154	559154	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:559154C>T	uc002frn.2	-	6	559	c.412G>A	c.(412-414)GCC>ACC	p.A138T	VPS53_uc002frk.2_Intron|VPS53_uc010cjo.1_Missense_Mutation_p.A138T|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.A109T|VPS53_uc002fro.2_5'UTR|VPS53_uc010cjp.1_Intron	NM_018289	NP_060759	Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 isoform 2	138	Potential.				protein transport	endosome membrane|Golgi apparatus					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)														---	---	---	---
MYO1C	4641	broad.mit.edu	37	17	1377960	1377960	+	Missense_Mutation	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1377960T>A	uc002fsp.2	-	17	1961	c.1741A>T	c.(1741-1743)ATT>TTT	p.I581F	MYO1C_uc002fsn.2_Missense_Mutation_p.I562F|MYO1C_uc002fso.2_Missense_Mutation_p.I546F|MYO1C_uc010vqj.1_Missense_Mutation_p.I546F|MYO1C_uc010vqk.1_Missense_Mutation_p.I557F	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN	myosin IC isoform a	581	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity				0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)														---	---	---	---
INPP5K	51763	broad.mit.edu	37	17	1399650	1399650	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1399650C>T	uc002fsr.2	-	10	1537	c.1148G>A	c.(1147-1149)GGG>GAG	p.G383E	INPP5K_uc002fss.2_Missense_Mutation_p.G307E|INPP5K_uc002fsq.2_Missense_Mutation_p.G307E|INPP5K_uc010cjr.2_Missense_Mutation_p.G307E|INPP5K_uc010vql.1_Missense_Mutation_p.G291E|INPP5K_uc010vqm.1_Missense_Mutation_p.G287E	NM_016532	NP_057616	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K isoform	383	Required for ruffle localization.				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding				0																		---	---	---	---
SLC43A2	124935	broad.mit.edu	37	17	1489235	1489235	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1489235C>T	uc002fsv.2	-	10	1278	c.1189G>A	c.(1189-1191)GAG>AAG	p.E397K	SLC43A2_uc002fsu.2_Missense_Mutation_p.E401K|SLC43A2_uc002fsw.2_Missense_Mutation_p.E397K|SLC43A2_uc002fsx.2_Missense_Mutation_p.E397K	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	solute carrier family 43, member 2	397					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane					0				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)														---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1538542	1538542	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1538542C>T	uc002fsz.1	-	11	2053	c.2003G>A	c.(2002-2004)CGG>CAG	p.R668Q	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Missense_Mutation_p.R582Q	NM_003693	NP_003684	Q14162	SREC_HUMAN	scavenger receptor class F, member 1 isoform 1	668	Gly-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)														---	---	---	---
PRPF8	10594	broad.mit.edu	37	17	1578462	1578462	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:1578462A>G	uc002fte.2	-	20	3158	c.3044T>C	c.(3043-3045)GTC>GCC	p.V1015A		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	1015						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)														---	---	---	---
SMG6	23293	broad.mit.edu	37	17	2203723	2203723	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2203723A>G	uc002fub.1	-	2	379	c.324T>C	c.(322-324)GGT>GGC	p.G108G	SMG6_uc002fud.1_Silent_p.G77G	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Smg-6 homolog, nonsense mediated mRNA decay	108					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																		---	---	---	---
SGSM2	9905	broad.mit.edu	37	17	2275534	2275534	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2275534G>A	uc002fun.3	+	13	1668	c.1493G>A	c.(1492-1494)CGG>CAG	p.R498Q	SGSM2_uc002fum.3_Missense_Mutation_p.R543Q|SGSM2_uc010vqw.1_Missense_Mutation_p.R498Q|SGSM2_uc002fuo.2_Missense_Mutation_p.R86Q	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN	RUN and TBC1 domain containing 1 isoform 2	498						intracellular	Rab GTPase activator activity				0				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)														---	---	---	---
KIAA0664	23277	broad.mit.edu	37	17	2600023	2600023	+	Silent	SNP	G	A	A	rs116982968	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2600023G>A	uc002fuy.1	-	11	2147	c.2061C>T	c.(2059-2061)GAC>GAT	p.D687D	KIAA0664_uc002fux.1_Silent_p.D619D|KIAA0664_uc010ckc.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	hypothetical protein LOC23277	687							binding			breast(2)	2																		---	---	---	---
OR1A2	26189	broad.mit.edu	37	17	3100941	3100941	+	Silent	SNP	G	A	A	rs80273100		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3100941G>A	uc002fvd.1	+	1	129	c.129G>A	c.(127-129)CTG>CTA	p.L43L		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(2)	2																		---	---	---	---
ZZEF1	23140	broad.mit.edu	37	17	3921213	3921213	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3921213G>A	uc002fxe.2	-	47	7622	c.7558C>T	c.(7558-7560)CGG>TGG	p.R2520W	ZZEF1_uc002fxg.1_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	zinc finger, ZZ type with EF hand domain 1	2520							calcium ion binding|zinc ion binding			ovary(2)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
MYBBP1A	10514	broad.mit.edu	37	17	4451585	4451585	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4451585G>A	uc002fyb.3	-	12	1639	c.1577C>T	c.(1576-1578)ACG>ATG	p.T526M	MYBBP1A_uc002fxz.3_Missense_Mutation_p.T526M	NM_014520	NP_055335	Q9BQG0	MBB1A_HUMAN	MYB binding protein 1a isoform 2	526	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			ovary(1)|skin(1)	2																		---	---	---	---
ALOX15	246	broad.mit.edu	37	17	4535278	4535278	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4535278G>A	uc002fyh.2	-	13	1729	c.1715C>T	c.(1714-1716)ACG>ATG	p.T572M	ALOX15_uc010vsd.1_Missense_Mutation_p.T533M|ALOX15_uc010vse.1_Missense_Mutation_p.T594M	NM_001140	NP_001131	P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	572	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)													---	---	---	---
ARRB2	409	broad.mit.edu	37	17	4621918	4621918	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4621918G>A	uc002fyj.2	+	10	946	c.718G>A	c.(718-720)GCC>ACC	p.A240T	ARRB2_uc002fyk.2_Missense_Mutation_p.A225T|ARRB2_uc002fyl.2_Missense_Mutation_p.A240T|ARRB2_uc010vsg.1_Missense_Mutation_p.A261T|ARRB2_uc002fym.2_Missense_Mutation_p.A225T|ARRB2_uc002fyn.2_Missense_Mutation_p.A48T|ARRB2_uc010ckq.2_Missense_Mutation_p.A48T|ARRB2_uc002fyo.2_Missense_Mutation_p.A48T	NM_004313	NP_004304	P32121	ARRB2_HUMAN	arrestin, beta 2 isoform 1	240	Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding				0																		---	---	---	---
RNF167	26001	broad.mit.edu	37	17	4848102	4848102	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4848102G>A	uc002fzq.2	+	11	1260	c.844G>A	c.(844-846)GAA>AAA	p.E282K	RNF167_uc002fzr.2_Missense_Mutation_p.E282K|RNF167_uc002fzs.2_Missense_Mutation_p.E282K|RNF167_uc002fzt.2_Missense_Mutation_p.E282K|RNF167_uc002fzu.2_Missense_Mutation_p.E281K|RNF167_uc002fzv.2_Missense_Mutation_p.E247K|RNF167_uc002fzx.2_Missense_Mutation_p.E246K|RNF167_uc002fzy.2_Missense_Mutation_p.E81K	NM_015528	NP_056343	Q9H6Y7	RN167_HUMAN	ring finger protein 167 precursor	282					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---
CAMTA2	23125	broad.mit.edu	37	17	4872938	4872938	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4872938C>T	uc002gah.1	-	19	3356	c.3248G>A	c.(3247-3249)CGG>CAG	p.R1083Q	SPAG7_uc002gad.2_5'Flank|SPAG7_uc002gae.2_5'Flank|SPAG7_uc002gaf.2_5'Flank|CAMTA2_uc010cku.1_Missense_Mutation_p.R1106Q|CAMTA2_uc002gag.1_Missense_Mutation_p.R1082Q|CAMTA2_uc002gai.1_Missense_Mutation_p.R1085Q	NM_015099	NP_055914	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	1083					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																		---	---	---	---
INCA1	388324	broad.mit.edu	37	17	4892783	4892783	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4892783C>T	uc002gaj.2	-	6	787	c.335G>A	c.(334-336)CGG>CAG	p.R112Q	CAMTA2_uc010cku.1_5'Flank|CAMTA2_uc002gag.1_5'Flank|CAMTA2_uc002gah.1_5'Flank|CAMTA2_uc002gai.1_5'Flank|CAMTA2_uc010vsu.1_5'Flank|INCA1_uc002gak.2_Missense_Mutation_p.R112Q|INCA1_uc002gal.2_Missense_Mutation_p.R97Q|INCA1_uc002gam.2_Missense_Mutation_p.R97Q	NM_213726	NP_998891	Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein	112						nucleus					0																		---	---	---	---
DERL2	51009	broad.mit.edu	37	17	5383798	5383798	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:5383798G>A	uc002gcc.1	-	5	448	c.432C>T	c.(430-432)TTC>TTT	p.F144F		NM_016041	NP_057125	Q9GZP9	DERL2_HUMAN	Der1-like domain family, member 2	144	Cytoplasmic (Potential).				endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding				0																		---	---	---	---
WSCD1	23302	broad.mit.edu	37	17	6023841	6023841	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6023841C>T	uc010cli.2	+	9	1967	c.1588C>T	c.(1588-1590)CGG>TGG	p.R530W	WSCD1_uc002gcn.2_Missense_Mutation_p.R530W|WSCD1_uc002gco.2_Missense_Mutation_p.R530W|WSCD1_uc010clj.2_Missense_Mutation_p.R221W	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	WSC domain containing 1	530						integral to membrane	sulfotransferase activity				0																		---	---	---	---
PITPNM3	83394	broad.mit.edu	37	17	6371643	6371643	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6371643C>T	uc002gdd.3	-	14	1943	c.1792G>A	c.(1792-1794)GTG>ATG	p.V598M	PITPNM3_uc010cln.2_Missense_Mutation_p.V562M|PITPNM3_uc010clm.2_Missense_Mutation_p.V81M|PITPNM3_uc002gdc.3_Missense_Mutation_p.V189M	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	PITPNM family member 3 isoform 1	598					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)														---	---	---	---
SLC16A11	162515	broad.mit.edu	37	17	6945061	6945061	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6945061G>A	uc002gei.1	-	4	1691	c.1353C>T	c.(1351-1353)CCC>CCT	p.P451P		NM_153357	NP_699188	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	451	Extracellular (Potential).					integral to membrane|plasma membrane	symporter activity			ovary(1)	1																		---	---	---	---
PHF23	79142	broad.mit.edu	37	17	7140010	7140010	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7140010G>A	uc002gfa.2	-	4	463	c.236C>T	c.(235-237)TCG>TTG	p.S79L	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.1_Intron|PHF23_uc010cma.2_5'UTR	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	79							zinc ion binding				0																		---	---	---	---
NEURL4	84461	broad.mit.edu	37	17	7225177	7225177	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7225177G>A	uc002gga.1	-						NEURL4_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|NEURL4_uc002ggb.1_Intron|NEURL4_uc002ggc.1_Intron	NM_032442	NP_115818			neuralized homolog 4 isoform 1								protein binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
NEURL4	84461	broad.mit.edu	37	17	7226287	7226287	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7226287G>A	uc002gga.1	-	15	2580	c.2573C>T	c.(2572-2574)TCG>TTG	p.S858L	NEURL4_uc002ggb.1_Missense_Mutation_p.S858L|NEURL4_uc002ggc.1_Missense_Mutation_p.S204L	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	858	NHR 4.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
SPEM1	374768	broad.mit.edu	37	17	7324658	7324658	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7324658G>A	uc002ggv.2	+	3	689	c.664G>A	c.(664-666)GGT>AGT	p.G222S	FGF11_uc010vtw.1_Intron	NM_199339	NP_955371	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	222					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane					0		Prostate(122;0.173)																---	---	---	---
POLR2A	5430	broad.mit.edu	37	17	7399276	7399276	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7399276C>T	uc002ghf.3	+	2	344	c.110C>T	c.(109-111)ACG>ATG	p.T37M	POLR2A_uc002ghe.2_Missense_Mutation_p.T37M	NM_000937	NP_000928	P24928	RPB1_HUMAN	DNA-directed RNA polymerase II A	37					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			pancreas(1)	1		Prostate(122;0.173)																---	---	---	---
SENP3	26168	broad.mit.edu	37	17	7468002	7468002	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7468002G>A	uc002ghm.2	+	3	1049	c.776G>A	c.(775-777)CGC>CAC	p.R259H	EIF4A1_uc002gho.1_5'Flank|SENP3_uc002ghn.1_Missense_Mutation_p.R94H	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific protease 3	259					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			ovary(1)|central_nervous_system(1)	2		Prostate(122;0.157)																---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	A	A	rs121913343		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7577121G>A	uc002gim.2	-	8	1011	c.817C>T	c.(817-819)CGT>TGT	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	273	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579365	7579365	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7579365C>T	uc002gim.2	-	4	516	c.322G>A	c.(322-324)GGT>AGT	p.G108S	TP53_uc002gig.1_Missense_Mutation_p.G108S|TP53_uc002gih.2_Missense_Mutation_p.G108S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.G108S|TP53_uc010cni.1_Missense_Mutation_p.G108S|TP53_uc002gij.2_Missense_Mutation_p.G108S|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.G69S|TP53_uc010cnk.1_Missense_Mutation_p.G123S	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	108	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		G -> D (in a sporadic cancer; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(7)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.G108del(2)|p.V73fs*9(1)|p.G108fs*41(1)|p.G105_T125del21(1)|p.G108S(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G108D(1)|p.G108fs*15(1)|p.Y107fs*38(1)|p.G108G(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)			111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---
EFNB3	1949	broad.mit.edu	37	17	7612612	7612612	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7612612T>C	uc002gis.2	+	5	1138	c.741T>C	c.(739-741)GGT>GGC	p.G247G		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	ephrin-B3 precursor	247	Helical; (Potential).				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			ovary(1)	1		all_cancers(10;1.14e-06)|Prostate(122;0.081)																---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7661859	7661859	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7661859C>T	uc002giu.1	+	13	2112	c.2098C>T	c.(2098-2100)CGT>TGT	p.R700C		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	700	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7674180	7674180	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7674180C>T	uc002giu.1	+	26	4305	c.4291C>T	c.(4291-4293)CGC>TGC	p.R1431C		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1431	TPR 1.|Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7683501	7683501	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7683501G>A	uc002giu.1	+	36	5763	c.5749G>A	c.(5749-5751)GAA>AAA	p.E1917K		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	1917	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7752883	7752883	+	Missense_Mutation	SNP	C	T	T	rs144716770		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7752883C>T	uc002giw.1	+	11	3653	c.3277C>T	c.(3277-3279)CGC>TGC	p.R1093C	KDM6B_uc002gix.2_Missense_Mutation_p.R395C	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1093					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|pancreas(1)	2																		---	---	---	---
TRAPPC1	58485	broad.mit.edu	37	17	7834358	7834358	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7834358G>A	uc002gjo.1	-	3	396	c.280C>T	c.(280-282)CGA>TGA	p.R94*	KCNAB3_uc002gjm.1_5'Flank|KCNAB3_uc010vul.1_5'Flank|CNTROB_uc002gjp.2_5'Flank|CNTROB_uc002gjq.2_5'Flank	NM_021210	NP_067033	Q9Y5R8	TPPC1_HUMAN	trafficking protein particle complex 1	94					ER to Golgi vesicle-mediated transport	endoplasmic reticulum					0		Prostate(122;0.173)																---	---	---	---
GUCY2D	3000	broad.mit.edu	37	17	7918329	7918329	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7918329C>T	uc002gjt.2	+	14	2803	c.2729C>T	c.(2728-2730)ACA>ATA	p.T910I		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	910	Guanylate cyclase.|Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)																---	---	---	---
MFSD6L	162387	broad.mit.edu	37	17	8701099	8701099	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8701099T>C	uc002glp.1	-	1	1488	c.1340A>G	c.(1339-1341)TAC>TGC	p.Y447C		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing	447	Helical; (Potential).					integral to membrane				central_nervous_system(1)	1																		---	---	---	---
PIK3R5	23533	broad.mit.edu	37	17	8794082	8794082	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:8794082G>A	uc002glt.2	-	7	697	c.630C>T	c.(628-630)GAC>GAT	p.D210D	PIK3R5_uc010vuz.1_Silent_p.D210D|PIK3R5_uc002glu.3_Intron|PIK3R5_uc010coa.1_Silent_p.D210D|PIK3R5_uc010cob.1_Translation_Start_Site	NM_014308	NP_055123	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	210					platelet activation	cytosol|membrane|nucleus				breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
RCVRN	5957	broad.mit.edu	37	17	9808264	9808264	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:9808264G>A	uc002gme.1	-	1	421	c.234C>T	c.(232-234)GAC>GAT	p.D78D		NM_002903	NP_002894	P35243	RECO_HUMAN	recoverin	78	EF-hand 2.|1; low affinity (By similarity).				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity				0																		---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10216651	10216651	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10216651G>A	uc002gmk.1	-	30	4095	c.4005C>T	c.(4003-4005)CAC>CAT	p.H1335H		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1335	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6																		---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10354660	10354660	+	Missense_Mutation	SNP	C	T	T	rs138779851		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10354660C>T	uc002gmn.2	-	28	3959	c.3848G>A	c.(3847-3849)CGT>CAT	p.R1283H	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1283	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13																		---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10536067	10536067	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10536067C>T	uc002gmq.1	-	33	4759	c.4682G>A	c.(4681-4683)CGA>CAA	p.R1561Q		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1561	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7																		---	---	---	---
MYH3	4621	broad.mit.edu	37	17	10538859	10538859	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10538859C>T	uc002gmq.1	-	29	4074	c.3997G>A	c.(3997-3999)GCC>ACC	p.A1333T		NM_002470	NP_002461	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle,	1333	Potential.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|central_nervous_system(2)|pancreas(1)	7																		---	---	---	---
C17orf48	56985	broad.mit.edu	37	17	10608653	10608653	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10608653A>G	uc002gmt.2	+	2	485	c.410A>G	c.(409-411)CAT>CGT	p.H137R	C17orf48_uc002gmu.2_RNA|C17orf48_uc002gmv.2_RNA|C17orf48_uc010vvg.1_Missense_Mutation_p.H137R	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol pyrophosphatase	137							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding				0																		---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11790241	11790241	+	Missense_Mutation	SNP	G	A	A	rs138333222		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11790241G>A	uc002gne.2	+	57	11139	c.11071G>A	c.(11071-11073)GAC>AAC	p.D3691N	DNAH9_uc010coo.2_Missense_Mutation_p.D2985N|DNAH9_uc002gnf.2_Missense_Mutation_p.D3N|DNAH9_uc010vvh.1_Missense_Mutation_p.D44N	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3691					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)														---	---	---	---
ZNF286A	57335	broad.mit.edu	37	17	15619679	15619679	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15619679C>G	uc010cot.2	+	6	1037	c.641C>G	c.(640-642)TCT>TGT	p.S214C	ZNF286A_uc002goz.3_Missense_Mutation_p.S102C|ZNF286A_uc010vwa.1_Missense_Mutation_p.S214C|ZNF286A_uc002gpa.2_Missense_Mutation_p.S214C	NM_001130842	NP_001124314	Q9HBT8	Z286A_HUMAN	zinc finger protein 286	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)														---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17699661	17699661	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17699661A>G	uc002grm.2	+	3	3868	c.3399A>G	c.(3397-3399)TCA>TCG	p.S1133S	RAI1_uc002grn.1_Silent_p.S1133S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1133						cytoplasm|nucleus	zinc ion binding			central_nervous_system(1)|skin(1)	2				READ - Rectum adenocarcinoma(1115;0.0276)														---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18022482	18022482	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18022482G>A	uc010vxh.1	+	2	706	c.368G>A	c.(367-369)CGC>CAC	p.R123H		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	123	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)																	---	---	---	---
MYO15A	51168	broad.mit.edu	37	17	18051508	18051508	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18051508C>T	uc010vxh.1	+	30	7013	c.6675C>T	c.(6673-6675)GAC>GAT	p.D2225D		NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	myosin XV	2225	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9	all_neural(463;0.228)																	---	---	---	---
SHMT1	6470	broad.mit.edu	37	17	18244038	18244038	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:18244038C>T	uc002gta.2	-						SHMT1_uc002gsz.2_Intron|SHMT1_uc002gtb.2_Intron|SHMT1_uc010cqb.2_Intron|SHMT1_uc010vxt.1_Intron|SHMT1_uc002gtd.1_Intron|SHMT1_uc010vxu.1_Silent_p.A203A	NM_004169	NP_004160			serine hydroxymethyltransferase 1 (soluble)						carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			ovary(1)	1					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)													---	---	---	---
EPN2	22905	broad.mit.edu	37	17	19237344	19237344	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19237344G>A	uc002gvd.3	+	11	2151	c.1703G>A	c.(1702-1704)CGG>CAG	p.R568Q	EPN2_uc002gve.3_Missense_Mutation_p.R511Q|EPN2_uc002gvf.3_Missense_Mutation_p.R283Q|EPN2_uc010vyo.1_Missense_Mutation_p.R276Q|EPN2_uc010vyp.1_Missense_Mutation_p.R504Q|EPN2_uc010vyq.1_Missense_Mutation_p.R505Q|EPN2_uc002gvh.1_Intron|EPN2_uc002gvj.3_Intron	NM_014964	NP_055779	O95208	EPN2_HUMAN	epsin 2 isoform b	568	6 X 3 AA repeats of [DE]-P-W.|3 X 3 AA repeats of N-P-F.				endocytosis		lipid binding			skin(1)	1	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)																	---	---	---	---
MAPK7	5598	broad.mit.edu	37	17	19284526	19284526	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19284526G>A	uc002gvn.2	+	4	1390	c.1004G>A	c.(1003-1005)CGC>CAC	p.R335H	MAPK7_uc002gvo.2_Missense_Mutation_p.R196H|MAPK7_uc002gvq.2_Missense_Mutation_p.R335H|MAPK7_uc002gvp.2_Missense_Mutation_p.R335H	NM_139033	NP_620602	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7 isoform 1	335	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)																	---	---	---	---
ULK2	9706	broad.mit.edu	37	17	19720162	19720162	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19720162T>C	uc002gwm.3	-	13	1505	c.996A>G	c.(994-996)CTA>CTG	p.L332L	ULK2_uc002gwn.2_Silent_p.L332L	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	332					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)																	---	---	---	---
C17orf103	256302	broad.mit.edu	37	17	21146754	21146754	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:21146754G>A	uc010vzx.1	-							NM_152914	NP_690878			transcript expressed during hematopoiesis 2												0																		---	---	---	---
NOS2	4843	broad.mit.edu	37	17	26084327	26084327	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26084327G>A	uc002gzu.2	-	27	3671	c.3407C>T	c.(3406-3408)GCG>GTG	p.A1136V		NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	1136					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)											OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
NOS2	4843	broad.mit.edu	37	17	26105953	26105953	+	Silent	SNP	G	A	A	rs151070816		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26105953G>A	uc002gzu.2	-	10	1398	c.1134C>T	c.(1132-1134)ATC>ATT	p.I378I	NOS2_uc010crh.1_Silent_p.I378I|NOS2_uc010wab.1_Silent_p.I378I	NM_000625	NP_000616	P35228	NOS2_HUMAN	nitric oxide synthase 2A	378					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			skin(2)|ovary(1)|breast(1)	4					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)													---	---	---	---
NLK	51701	broad.mit.edu	37	17	26370267	26370267	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26370267C>T	uc010crj.2	+	1	580	c.368C>T	c.(367-369)GCG>GTG	p.A123V	NLK_uc010cri.1_RNA	NM_016231	NP_057315	Q9UBE8	NLK_HUMAN	nemo like kinase	123					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding			ovary(1)|lung(1)|central_nervous_system(1)	3	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)														---	---	---	---
VTN	7448	broad.mit.edu	37	17	26696542	26696542	+	Missense_Mutation	SNP	A	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26696542A>C	uc002hbc.2	-	3	664	c.515T>G	c.(514-516)CTC>CGC	p.L172R	SARM1_uc010wah.1_Intron|SEBOX_uc010crk.1_5'Flank|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	vitronectin precursor	172	Hemopexin-like 1.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			ovary(1)|kidney(1)	2	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)													---	---	---	---
SPAG5	10615	broad.mit.edu	37	17	26919486	26919486	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26919486C>T	uc002hbq.2	-	3	868	c.776G>A	c.(775-777)CGT>CAT	p.R259H	SGK494_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	259					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			central_nervous_system(1)	1	Lung NSC(42;0.00431)																	---	---	---	---
FLOT2	2319	broad.mit.edu	37	17	27211256	27211256	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27211256G>A	uc002hdc.2	-	3	332	c.209C>T	c.(208-210)ACG>ATG	p.T70M		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	flotillin 2	70					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction					0	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)															---	---	---	---
DHRS13	147015	broad.mit.edu	37	17	27225700	27225700	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27225700C>T	uc002hde.3	-	5	1020	c.893G>A	c.(892-894)CGG>CAG	p.R298Q	FLOT2_uc002hdc.2_5'Flank|DHRS13_uc002hdd.3_Missense_Mutation_p.R248Q|DHRS13_uc010wba.1_Missense_Mutation_p.R217Q|uc002hdf.2_RNA	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	dehydrogenase/reductase (SDR family) member 13	298						extracellular region	binding|oxidoreductase activity				0	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)															---	---	---	---
MYO18A	399687	broad.mit.edu	37	17	27416998	27416998	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27416998G>A	uc002hdt.1	-	37	5665	c.5507C>T	c.(5506-5508)ACG>ATG	p.T1836M	MYO18A_uc010wbc.1_Missense_Mutation_p.T1369M|MYO18A_uc002hds.2_Missense_Mutation_p.T1378M|MYO18A_uc010csa.1_Missense_Mutation_p.T1799M|MYO18A_uc002hdu.1_Missense_Mutation_p.T1836M	NM_078471	NP_510880	Q92614	MY18A_HUMAN	myosin 18A isoform a	1836	Potential.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity				0			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)															---	---	---	---
MYO1D	4642	broad.mit.edu	37	17	30965803	30965803	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:30965803A>G	uc002hho.1	-	20	2658	c.2646T>C	c.(2644-2646)CGT>CGC	p.R882R	MYO1D_uc002hhp.1_Silent_p.R882R	NM_015194	NP_056009	O94832	MYO1D_HUMAN	myosin ID	882						myosin complex	actin binding|ATP binding|calmodulin binding			large_intestine(1)|ovary(1)|central_nervous_system(1)	3			BRCA - Breast invasive adenocarcinoma(9;0.0362)															---	---	---	---
TMEM98	26022	broad.mit.edu	37	17	31258553	31258553	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:31258553A>T	uc002hhq.2	+	3	465	c.7A>T	c.(7-9)ACT>TCT	p.T3S	TMEM98_uc002hhr.2_Missense_Mutation_p.T3S	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	3						endoplasmic reticulum|integral to membrane					0		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)															---	---	---	---
TMEM98	26022	broad.mit.edu	37	17	31258602	31258602	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:31258602C>T	uc002hhq.2	+	3	514	c.56C>T	c.(55-57)TCG>TTG	p.S19L	TMEM98_uc002hhr.2_Missense_Mutation_p.S19L	NM_015544	NP_056359	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	19	Helical; (Potential).					endoplasmic reticulum|integral to membrane					0		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)															---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32964376	32964376	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:32964376C>T	uc002hif.2	+	10	2408	c.2080C>T	c.(2080-2082)CGC>TGC	p.R694C		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	694	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)														---	---	---	---
LIG3	3980	broad.mit.edu	37	17	33319650	33319650	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33319650C>T	uc002hik.1	+	8	1502	c.1394C>T	c.(1393-1395)CCG>CTG	p.P465L	LIG3_uc002hij.2_Missense_Mutation_p.P465L|LIG3_uc010cth.1_Missense_Mutation_p.P474L	NM_013975	NP_039269	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent isoform alpha	465					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9		Ovarian(249;0.17)			Bleomycin(DB00290)								Other_BER_factors					---	---	---	---
NLE1	54475	broad.mit.edu	37	17	33464020	33464020	+	Silent	SNP	G	A	A	rs139216593	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33464020G>A	uc002hiy.1	-	7	856	c.828C>T	c.(826-828)GAC>GAT	p.D276D	NLE1_uc010ctn.1_Translation_Start_Site|NLE1_uc002hiz.1_Translation_Start_Site	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Notchless gene homolog isoform a	276	WD 4.					nucleolus				breast(3)|ovary(1)	4		Ovarian(249;0.17)																---	---	---	---
SLFN5	162394	broad.mit.edu	37	17	33592375	33592375	+	Missense_Mutation	SNP	C	T	T	rs144048266		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33592375C>T	uc002hjf.3	+	5	2261	c.2144C>T	c.(2143-2145)GCA>GTA	p.A715V	SLFN5_uc010wcg.1_3'UTR	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	schlafen family member 5	715					cell differentiation		ATP binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)														---	---	---	---
LYZL6	57151	broad.mit.edu	37	17	34266362	34266362	+	Translation_Start_Site	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34266362C>A	uc002hkj.1	-	1	149	c.-1G>T	c.(-3-1)AAGGA>AATGA		LYZL6_uc002hkk.1_Translation_Start_Site	NM_020426	NP_065159			lysozyme-like 6 precursor						cell wall macromolecule catabolic process	extracellular region	lysozyme activity				0				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---
CCL18	6362	broad.mit.edu	37	17	34391748	34391748	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34391748G>A	uc002hku.2	+	1	106	c.46G>A	c.(46-48)GCC>ACC	p.A16T		NM_002988	NP_002979	P55774	CCL18_HUMAN	small inducible cytokine A18 precursor	16					cell-cell signaling|chemotaxis|immune response|inflammatory response|response to biotic stimulus|signal transduction	extracellular space	chemokine activity				0		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)														---	---	---	---
GGNBP2	79893	broad.mit.edu	37	17	34937873	34937873	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34937873C>T	uc002hnb.2	+	9	1369	c.1120C>T	c.(1120-1122)CGC>TGC	p.R374C	GGNBP2_uc002hna.2_Missense_Mutation_p.R374C|GGNBP2_uc002hnc.1_Missense_Mutation_p.R203C	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	374					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)														---	---	---	---
AATF	26574	broad.mit.edu	37	17	35413944	35413944	+	Missense_Mutation	SNP	G	A	A	rs114527666	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35413944G>A	uc002hni.2	+	12	1914	c.1663G>A	c.(1663-1665)GAC>AAC	p.D555N	AATF_uc002hnj.2_RNA	NM_012138	NP_036270	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	555					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity				0		Breast(25;0.00607)																---	---	---	---
ACACA	31	broad.mit.edu	37	17	35601610	35601610	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35601610G>A	uc002hnm.2	-	21	2716	c.2525C>T	c.(2524-2526)ACG>ATG	p.T842M	ACACA_uc002hnk.2_Missense_Mutation_p.T764M|ACACA_uc002hnl.2_Missense_Mutation_p.T784M|ACACA_uc002hnn.2_Missense_Mutation_p.T842M|ACACA_uc002hno.2_Missense_Mutation_p.T879M|ACACA_uc010cuz.2_Missense_Mutation_p.T842M	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	842					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)													---	---	---	---
ACACA	31	broad.mit.edu	37	17	35615209	35615209	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:35615209A>G	uc002hnm.2	-	13	1667	c.1476T>C	c.(1474-1476)TTT>TTC	p.F492F	ACACA_uc002hnk.2_Silent_p.F414F|ACACA_uc002hnl.2_Silent_p.F434F|ACACA_uc002hnn.2_Silent_p.F492F|ACACA_uc002hno.2_Silent_p.F529F|ACACA_uc010cuz.2_Silent_p.F492F	NM_198836	NP_942133	Q13085	ACACA_HUMAN	acetyl-Coenzyme A carboxylase alpha isoform 2	492	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			large_intestine(1)|ovary(1)	2		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)													---	---	---	---
MLLT6	4302	broad.mit.edu	37	17	36874180	36874180	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36874180T>C	uc002hqi.3	+	12	1929	c.1916T>C	c.(1915-1917)CTC>CCC	p.L639P	MLLT6_uc002hqj.2_Missense_Mutation_p.L74P|MLLT6_uc002hqk.3_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	639					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|prostate(1)|lung(1)|skin(1)	6	Breast(7;4.43e-21)							T	MLL	AL								---	---	---	---
STAC2	342667	broad.mit.edu	37	17	37370565	37370565	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37370565G>A	uc002hrs.2	-	8	1081	c.862C>T	c.(862-864)CGG>TGG	p.R288W	STAC2_uc010cvt.2_Missense_Mutation_p.R146W	NM_198993	NP_945344	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	288					intracellular signal transduction		metal ion binding			pancreas(1)	1																		---	---	---	---
MED24	9862	broad.mit.edu	37	17	38182435	38182435	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38182435C>T	uc002htt.2	-	19	2272	c.1959G>A	c.(1957-1959)GAG>GAA	p.E653E	MED24_uc010wer.1_5'Flank|MED24_uc010wes.1_Silent_p.E513E|MED24_uc010wet.1_Intron|MED24_uc002hts.2_Silent_p.E678E|MED24_uc002htu.2_Silent_p.E640E|MED24_uc010cwn.2_Silent_p.E640E|MED24_uc010weu.1_Silent_p.E563E|MED24_uc010wev.1_Silent_p.E603E|MED24_uc010wew.1_Silent_p.E594E|SNORD124_uc010wey.1_5'Flank	NM_014815	NP_055630	O75448	MED24_HUMAN	mediator complex subunit 24 isoform 1	653					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|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			ovary(1)	1	Colorectal(19;0.000442)																	---	---	---	---
MSL1	339287	broad.mit.edu	37	17	38282638	38282638	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38282638G>A	uc002hub.2	+	2	387	c.368G>A	c.(367-369)CGG>CAG	p.R123Q	MSL1_uc002hua.3_Missense_Mutation_p.R61Q|MSL1_uc002huc.2_Missense_Mutation_p.R61Q	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN	hampin	324					histone H4-K16 acetylation	MSL complex					0																		---	---	---	---
WIPF2	147179	broad.mit.edu	37	17	38420997	38420997	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38420997C>A	uc002hug.1	+	5	809	c.569C>A	c.(568-570)CCC>CAC	p.P190H	WIPF2_uc002huh.1_Missense_Mutation_p.P40H|WIPF2_uc010cww.1_Missense_Mutation_p.P40H|WIPF2_uc002hui.1_Missense_Mutation_p.P190H|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Missense_Mutation_p.P190H	NM_133264	NP_573571	Q8TF74	WIPF2_HUMAN	WIRE protein	190						cytoplasm|cytoskeleton	actin binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3															HNSCC(43;0.11)			---	---	---	---
WIPF2	147179	broad.mit.edu	37	17	38433330	38433330	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38433330C>T	uc002hug.1	+						WIPF2_uc002huh.1_Intron|WIPF2_uc010cww.1_Intron|WIPF2_uc002hui.1_Intron|WIPF2_uc010cwx.1_Intron|WIPF2_uc010cwy.1_Intron	NM_133264	NP_573571			WIRE protein							cytoplasm|cytoskeleton	actin binding			upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3															HNSCC(43;0.11)			---	---	---	---
RARA	5914	broad.mit.edu	37	17	38487581	38487581	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38487581G>A	uc002huk.1	+	2	566	c.111G>A	c.(109-111)CCG>CCA	p.P37P	RARA_uc002hul.3_Silent_p.P37P|RARA_uc010wfe.1_Silent_p.P37P	NM_000964	NP_000955	P10276	RARA_HUMAN	retinoic acid receptor, alpha isoform 1	37	Modulating.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)			T	PML|ZNF145|TIF1|NUMA1|NPM1	APL								---	---	---	---
KRTAP4-4	84616	broad.mit.edu	37	17	39316773	39316773	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39316773C>T	uc002hwc.2	-	1	211	c.171G>A	c.(169-171)AGG>AGA	p.R57R		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	keratin associated protein 4.4	57	8.|26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)															---	---	---	---
KRT33A	3883	broad.mit.edu	37	17	39506942	39506942	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39506942G>A	uc002hwk.1	-	1	115	c.78C>T	c.(76-78)TGC>TGT	p.C26C		NM_004138	NP_004129	O76009	KT33A_HUMAN	keratin 33A	26	Head.					intermediate filament	protein binding|structural molecule activity				0		Breast(137;0.000496)																---	---	---	---
KAT2A	2648	broad.mit.edu	37	17	40266961	40266961	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40266961A>T	uc002hyx.2	-	13	2028	c.1968T>A	c.(1966-1968)AAT>AAA	p.N656K	DHX58_uc002hyv.3_5'Flank|DHX58_uc002hyw.3_5'Flank|DHX58_uc010wgf.1_5'Flank	NM_021078	NP_066564	Q92830	KAT2A_HUMAN	general control of amino acid synthesis 5-like	656	N-acetyltransferase.				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																		---	---	---	---
STAT5B	6777	broad.mit.edu	37	17	40369449	40369449	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40369449G>A	uc002hzh.2	-	10	1372	c.1203C>T	c.(1201-1203)TGC>TGT	p.C401C		NM_012448	NP_036580	P51692	STA5B_HUMAN	signal transducer and activator of transcription	401					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			ovary(3)|lung(2)|skin(1)	6		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)													---	---	---	---
PSMC3IP	29893	broad.mit.edu	37	17	40729486	40729486	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40729486C>T	uc002iai.2	-	2	171	c.128G>A	c.(127-129)GGC>GAC	p.G43D	PSMC3IP_uc002iaj.2_5'UTR|PSMC3IP_uc002iak.2_Missense_Mutation_p.G43D|PSMC3IP_uc010wgn.1_5'UTR|PSMC3IP_uc010wgo.1_RNA|PSMC3IP_uc010wgp.1_RNA	NM_016556	NP_057640	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein isoform 2	43					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)														---	---	---	---
TUBG1	7283	broad.mit.edu	37	17	40764454	40764454	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40764454C>T	uc002ian.2	+	5	807	c.409C>T	c.(409-411)CTG>TTG	p.L137L		NM_001070	NP_001061	P23258	TBG1_HUMAN	tubulin, gamma 1	137					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			ovary(1)	1		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)														---	---	---	---
WNK4	65266	broad.mit.edu	37	17	40947807	40947807	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40947807G>A	uc002ibj.2	+	16	3208	c.3187G>A	c.(3187-3189)GGG>AGG	p.G1063R	WNK4_uc010wgx.1_Missense_Mutation_p.G727R|CCDC56_uc010wgz.1_Missense_Mutation_p.R151C	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1063					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			ovary(3)|skin(3)|stomach(1)	7		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)														---	---	---	---
AOC3	8639	broad.mit.edu	37	17	41004568	41004568	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41004568A>G	uc002ibv.2	+	1	1368	c.1208A>G	c.(1207-1209)GAC>GGC	p.D403G		NM_003734	NP_003725	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3 precursor	403	Extracellular (Potential).				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			central_nervous_system(2)|ovary(1)|skin(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)													---	---	---	---
VAT1	10493	broad.mit.edu	37	17	41170095	41170095	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41170095T>C	uc002icm.1	-	3	844	c.724A>G	c.(724-726)ACG>GCG	p.T242A	VAT1_uc010cyw.1_Missense_Mutation_p.T108A|VAT1_uc010whk.1_Missense_Mutation_p.T174A	NM_006373	NP_006364	Q99536	VAT1_HUMAN	vesicle amine transport protein 1	242						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding				0		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)														---	---	---	---
HDAC5	10014	broad.mit.edu	37	17	42171000	42171000	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42171000C>A	uc002ifd.1	-	4	508	c.297G>T	c.(295-297)CAG>CAT	p.Q99H	HDAC5_uc002ife.1_Missense_Mutation_p.Q99H|HDAC5_uc002iff.1_Missense_Mutation_p.Q100H|HDAC5_uc010czp.1_Missense_Mutation_p.Q99H|HDAC5_uc002ifh.2_Missense_Mutation_p.Q99H	NM_005474	NP_005465	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5 isoform 1	99					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	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			ovary(1)	1		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)														---	---	---	---
C17orf65	339201	broad.mit.edu	37	17	42254027	42254027	+	3'UTR	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42254027G>T	uc002ifn.2	-	4					ASB16_uc002ifl.1_Intron|ASB16_uc002ifm.1_Intron	NM_178542	NP_848637			hypothetical protein LOC339201												0		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)														---	---	---	---
SLC4A1	6521	broad.mit.edu	37	17	42337820	42337820	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42337820C>T	uc002igf.3	-	6	586	c.437G>A	c.(436-438)CGG>CAG	p.R146Q	SLC4A1_uc002igg.3_Missense_Mutation_p.R146Q	NM_000342	NP_000333	P02730	B3AT_HUMAN	solute carrier family 4, anion exchanger, member	146	Cytoplasmic.				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)														---	---	---	---
SLC25A39	51629	broad.mit.edu	37	17	42398592	42398592	+	Silent	SNP	G	A	A	rs146803643	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42398592G>A	uc002ign.2	-	8	679	c.525C>T	c.(523-525)ACC>ACT	p.T175T	SLC25A39_uc002igm.2_Silent_p.T167T|SLC25A39_uc002igo.2_Silent_p.T167T|SLC25A39_uc010wiw.1_Silent_p.T152T|SLC25A39_uc010czu.2_Silent_p.T43T|SLC25A39_uc010wix.1_3'UTR|SLC25A39_uc010wiy.1_3'UTR	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39 isoform a	175	Solcar 2.|Helical; Name=3; (Potential).				heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				upper_aerodigestive_tract(1)	1		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)														---	---	---	---
GPATCH8	23131	broad.mit.edu	37	17	42477060	42477060	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42477060G>A	uc002igw.1	-	8	2449	c.2385C>T	c.(2383-2385)TGC>TGT	p.C795C	GPATCH8_uc002igv.1_Silent_p.C717C|GPATCH8_uc010wiz.1_Silent_p.C717C	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	795						intracellular	nucleic acid binding|zinc ion binding			ovary(2)|kidney(1)|skin(1)	4		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)														---	---	---	---
FZD2	2535	broad.mit.edu	37	17	42636577	42636577	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:42636577G>A	uc002igx.1	+	1	1653	c.1521G>A	c.(1519-1521)CCG>CCA	p.P507P		NM_001466	NP_001457	Q14332	FZD2_HUMAN	frizzled 2 precursor	507	Extracellular (Potential).				axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			ovary(2)|lung(1)	3		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)														---	---	---	---
NMT1	4836	broad.mit.edu	37	17	43175800	43175800	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43175800G>A	uc002ihz.2	+	7	782	c.764G>A	c.(763-765)CGT>CAT	p.R255H	NMT1_uc002iia.2_RNA	NM_021079	NP_066565	P30419	NMT1_HUMAN	N-myristoyltransferase 1	255					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity				0		Prostate(33;0.155)																---	---	---	---
FMNL1	752	broad.mit.edu	37	17	43314658	43314658	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43314658G>A	uc002iin.2	+	8	934	c.734G>A	c.(733-735)AGC>AAC	p.S245N		NM_005892	NP_005883	O95466	FMNL_HUMAN	formin-like 1	245	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			pancreas(1)	1																		---	---	---	---
ARHGAP27	201176	broad.mit.edu	37	17	43481991	43481991	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43481991G>A	uc002iix.2	-	4	731	c.282C>T	c.(280-282)TCC>TCT	p.S94S	ARHGAP27_uc010dak.2_Intron|ARHGAP27_uc010wjl.1_Silent_p.S235S	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27 isoform a	435	WW 3.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding				0	Renal(3;0.0405)																	---	---	---	---
KIAA1267	284058	broad.mit.edu	37	17	44108975	44108975	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:44108975C>T	uc002ikb.2	-	14	3270	c.3185G>A	c.(3184-3186)CGC>CAC	p.R1062H	KIAA1267_uc002ikc.2_Missense_Mutation_p.R1062H|KIAA1267_uc002ikd.2_Missense_Mutation_p.R1062H|KIAA1267_uc010dav.2_Missense_Mutation_p.R1061H|KIAA1267_uc010wkb.1_Missense_Mutation_p.R393H|KIAA1267_uc010wkc.1_Missense_Mutation_p.R330H	NM_015443	NP_056258	Q7Z3B3	K1267_HUMAN	hypothetical protein LOC284058	1062						MLL1 complex	protein binding			skin(2)	2		Melanoma(429;0.211)																---	---	---	---
GOSR2	9570	broad.mit.edu	37	17	45008537	45008537	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45008537G>A	uc002ila.2	+	3	240	c.167G>A	c.(166-168)AGC>AAC	p.S56N	GOSR2_uc010wkh.1_Missense_Mutation_p.S56N|GOSR2_uc002iky.2_Missense_Mutation_p.S56N|GOSR2_uc002ikz.2_Missense_Mutation_p.S56N	NM_004287	NP_004278	O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2 isoform A	56	Cytoplasmic (Potential).				cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(9;0.102)															---	---	---	---
NPEPPS	9520	broad.mit.edu	37	17	45669318	45669318	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45669318C>T	uc002ilr.3	+						NPEPPS_uc010wkt.1_Intron|NPEPPS_uc010wku.1_Intron|NPEPPS_uc010wkv.1_5'UTR	NM_006310	NP_006301			aminopeptidase puromycin sensitive						proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding				0																		---	---	---	---
SCRN2	90507	broad.mit.edu	37	17	45917699	45917699	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45917699C>T	uc002imd.2	-	3	340	c.214G>A	c.(214-216)GCT>ACT	p.A72T	SCRN2_uc002imc.2_Missense_Mutation_p.A80T|SCRN2_uc002imf.2_Missense_Mutation_p.A72T|SCRN2_uc002ime.2_RNA	NM_138355	NP_612364	Q96FV2	SCRN2_HUMAN	secernin 2 isoform 1	72					proteolysis		dipeptidase activity			ovary(1)	1																		---	---	---	---
PNPO	55163	broad.mit.edu	37	17	46023331	46023331	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46023331G>T	uc002imo.2	+	5	675	c.522G>T	c.(520-522)CAG>CAT	p.Q174H	PNPO_uc010wkz.1_Missense_Mutation_p.Q156H|PNPO_uc010wla.1_Missense_Mutation_p.Q79H|PNPO_uc010wlb.1_Intron	NM_018129	NP_060599	Q9NVS9	PNPO_HUMAN	pyridoxine 5'-phosphate oxidase	174	FMN.				pyridoxine biosynthetic process	cytosol	FMN binding|pyridoxamine-phosphate oxidase activity				0					Pyridoxal Phosphate(DB00114)													---	---	---	---
NGFR	4804	broad.mit.edu	37	17	47583814	47583814	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47583814G>A	uc002ioz.3	+	3	487	c.362G>A	c.(361-363)CGC>CAC	p.R121H		NM_002507	NP_002498	P08138	TNR16_HUMAN	nerve growth factor receptor precursor	121	TNFR-Cys 3.|Extracellular (Potential).				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				ovary(1)|lung(1)	2	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)																	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47684663	47684663	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:47684663C>A	uc010dbk.2	-	9	1418	c.786G>T	c.(784-786)AAG>AAT	p.K262N	SPOP_uc002ipb.2_Missense_Mutation_p.K262N|SPOP_uc002ipc.2_Missense_Mutation_p.K262N|SPOP_uc002ipd.2_Missense_Mutation_p.K262N|SPOP_uc002ipe.2_Missense_Mutation_p.K262N|SPOP_uc002ipf.2_Missense_Mutation_p.K262N|SPOP_uc002ipg.2_Missense_Mutation_p.K262N	NM_003563	NP_003554	O43791	SPOP_HUMAN	speckle-type POZ protein	262	BTB.				mRNA processing	nucleus	protein binding			prostate(2)|ovary(2)|lung(2)	6															Prostate(2;0.17)			---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48266814	48266814	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48266814C>T	uc002iqm.2	-	39	2879	c.2753G>A	c.(2752-2754)CGT>CAT	p.R918H		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	918	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta						---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48275325	48275325	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48275325G>A	uc002iqm.2	-	8	753	c.627C>T	c.(625-627)GGC>GGT	p.G209G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	alpha 1 type I collagen preproprotein	209	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(372)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382					Collagenase(DB00048)|Palifermin(DB00039)			T	PDGFB|USP6	dermatofibrosarcoma protuberans|aneurysmal bone cyst 		Osteogenesis imperfecta				OREG0024560	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CACNA1G	8913	broad.mit.edu	37	17	48701260	48701260	+	Intron	SNP	T	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48701260T>A	uc002irk.1	+						CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Intron|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Intron|CACNA1G_uc002irq.1_Intron|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Intron|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002iru.1_Intron|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Intron|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002ise.1_Intron|CACNA1G_uc002isf.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron	NM_018896	NP_061496			voltage-dependent calcium channel alpha 1G						axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(1)	1	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)													---	---	---	---
WFIKKN2	124857	broad.mit.edu	37	17	48918374	48918374	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:48918374G>A	uc002isv.3	+	2	2419	c.1725G>A	c.(1723-1725)TTG>TTA	p.L575L	WFIKKN2_uc010dbu.2_Silent_p.L482L	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	WFIKKN2 protein	575						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)															---	---	---	---
SPAG9	9043	broad.mit.edu	37	17	49052278	49052278	+	Missense_Mutation	SNP	C	T	T	rs142387747		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:49052278C>T	uc002itc.2	-	28	3763	c.3554G>A	c.(3553-3555)CGT>CAT	p.R1185H	SPAG9_uc002itb.2_Missense_Mutation_p.R1171H|SPAG9_uc002itd.2_Missense_Mutation_p.R1175H|SPAG9_uc002ita.2_Missense_Mutation_p.R1041H	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	sperm associated antigen 9 isoform 1	1185					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				lung(4)|breast(1)	5			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)															---	---	---	---
EPX	8288	broad.mit.edu	37	17	56280505	56280505	+	Missense_Mutation	SNP	G	A	A	rs149971221	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56280505G>A	uc002ivq.2	+	11	1858	c.1772G>A	c.(1771-1773)CGG>CAG	p.R591Q		NM_000502	NP_000493	P11678	PERE_HUMAN	eosinophil peroxidase preproprotein	591					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			ovary(2)	2																		---	---	---	---
MPO	4353	broad.mit.edu	37	17	56355357	56355357	+	Silent	SNP	G	A	A	rs142018618		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56355357G>A	uc002ivu.1	-	7	1212	c.1035C>T	c.(1033-1035)AGC>AGT	p.S345S		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	345					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)													---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56572432	56572432	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56572432C>A	uc002iwj.2	-	16	3181	c.3071G>T	c.(3070-3072)AGG>ATG	p.R1024M		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1024	Potential.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
MTMR4	9110	broad.mit.edu	37	17	56573381	56573381	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56573381C>T	uc002iwj.2	-	16	2232	c.2122G>A	c.(2122-2124)GCA>ACA	p.A708T		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	708						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			skin(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56657025	56657025	+	Splice_Site	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56657025C>A	uc010dcz.1	-	21	3494	c.3376_splice	c.e21+1	p.G1126_splice	TEX14_uc002iwr.1_Splice_Site_p.G1120_splice|TEX14_uc002iws.1_Splice_Site_p.G1080_splice|TEX14_uc010dda.1_Splice_Site_p.G860_splice	NM_198393	NP_938207			testis expressed sequence 14 isoform a							cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
TEX14	56155	broad.mit.edu	37	17	56737991	56737991	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:56737991C>T	uc010dcz.1	-						TEX14_uc002iwr.1_Intron|TEX14_uc002iws.1_Intron|TEX14_uc010dda.1_Intron|TEX14_uc010wnz.1_Missense_Mutation_p.D324N	NM_198393	NP_938207			testis expressed sequence 14 isoform a							cytoplasm	ATP binding|protein kinase activity			stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1)	17	Medulloblastoma(34;0.127)|all_neural(34;0.237)																	---	---	---	---
TMEM49	81671	broad.mit.edu	37	17	57816291	57816291	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57816291A>G	uc002ixu.3	+	5	670	c.397A>G	c.(397-399)ACC>GCC	p.T133A	TMEM49_uc010wog.1_5'UTR|TMEM49_uc010woh.1_Missense_Mutation_p.T133A|TMEM49_uc010woi.1_Missense_Mutation_p.T36A|TMEM49_uc010woj.1_Intron	NM_030938	NP_112200	Q96GC9	VMP1_HUMAN	transmembrane protein 49	133	Extracellular (Potential).				autophagy|cell adhesion	endoplasmic reticulum|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane|vacuolar membrane					0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;1.15e-09)|all cancers(12;1.15e-08)															---	---	---	---
BCAS3	54828	broad.mit.edu	37	17	59067459	59067459	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59067459G>A	uc002iyv.3	+	15	1458	c.1349G>A	c.(1348-1350)CGA>CAA	p.R450Q	BCAS3_uc010wow.1_Missense_Mutation_p.R237Q|BCAS3_uc002iyu.3_Missense_Mutation_p.R450Q|BCAS3_uc002iyw.3_Missense_Mutation_p.R446Q|BCAS3_uc002iyx.1_Missense_Mutation_p.R265Q|BCAS3_uc002iyy.3_Missense_Mutation_p.R221Q|BCAS3_uc002iyz.3_Missense_Mutation_p.R4Q|BCAS3_uc002iza.3_Missense_Mutation_p.R4Q	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3 isoform 1	450						nucleus				ovary(2)|central_nervous_system(2)|skin(1)	5			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)															---	---	---	---
TBX4	9496	broad.mit.edu	37	17	59557341	59557341	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59557341G>A	uc002izi.2	+						TBX4_uc010ddo.2_Intron|TBX4_uc010woy.1_Intron	NM_018488	NP_060958			T-box 4						leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2																		---	---	---	---
METTL2A	339175	broad.mit.edu	37	17	60522244	60522244	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60522244G>A	uc002izv.2	+	7	874	c.856G>A	c.(856-858)GGG>AGG	p.G286R	METTL2A_uc002izw.2_Missense_Mutation_p.G150R	NM_181725	NP_859076	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	286							methyltransferase activity				0			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)															---	---	---	---
TANC2	26115	broad.mit.edu	37	17	61498030	61498030	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61498030C>T	uc002jal.3	+	25	4710	c.4687C>T	c.(4687-4689)CGC>TGC	p.R1563C	TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.R674C	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and	1563							binding			ovary(2)	2																		---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62018341	62018341	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62018341C>A	uc002jds.1	-	24	5378	c.5301G>T	c.(5299-5301)GAG>GAT	p.E1767D		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	1767					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)													---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62026852	62026852	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62026852C>T	uc002jds.1	-	15	2967	c.2890G>A	c.(2890-2892)GTC>ATC	p.V964I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	voltage-gated sodium channel type 4 alpha	964					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(1)|pancreas(1)|skin(1)	3					Lamotrigine(DB00555)													---	---	---	---
AXIN2	8313	broad.mit.edu	37	17	63532595	63532595	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:63532595G>T	uc002jfi.2	-	8	2273	c.1984C>A	c.(1984-1986)CTG>ATG	p.L662M	AXIN2_uc002jfh.2_Missense_Mutation_p.L597M	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	axin 2	662					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			central_nervous_system(1)|skin(1)	2														Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome				---	---	---	---
PRKCA	5578	broad.mit.edu	37	17	64685129	64685129	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:64685129C>T	uc002jfp.1	+	8	926	c.882C>T	c.(880-882)GAC>GAT	p.D294D	PRKCA_uc002jfo.1_Silent_p.D165D	NM_002737	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	294					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)													---	---	---	---
CACNG5	27091	broad.mit.edu	37	17	64880774	64880774	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:64880774C>T	uc010wqi.1	+	5	803	c.566C>T	c.(565-567)ACG>ATG	p.T189M	CACNG5_uc002jfr.2_Missense_Mutation_p.T189M|CACNG5_uc010wqj.1_Missense_Mutation_p.T189M	NM_145811	NP_665810	Q9UF02	CCG5_HUMAN	voltage-dependent calcium channel gamma-5	189	Helical; (Potential).				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			pancreas(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)															---	---	---	---
CACNG4	27092	broad.mit.edu	37	17	65026895	65026895	+	Silent	SNP	G	A	A	rs145850219		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65026895G>A	uc002jft.1	+	4	774	c.759G>A	c.(757-759)TCG>TCA	p.S253S		NM_014405	NP_055220	Q9UBN1	CCG4_HUMAN	voltage-dependent calcium channel gamma-4	253	Cytoplasmic (Potential).				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)	1	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)															---	---	---	---
PITPNC1	26207	broad.mit.edu	37	17	65683305	65683305	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:65683305G>A	uc002jgc.2	+						PITPNC1_uc002jgb.2_Intron	NM_012417	NP_036549			phosphatidylinositol transfer protein,						signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			skin(1)	1	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)															---	---	---	---
ABCA8	10351	broad.mit.edu	37	17	66873710	66873710	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66873710G>A	uc002jhp.2	-	31	4208	c.4029C>T	c.(4027-4029)TAC>TAT	p.Y1343Y	ABCA8_uc002jhq.2_Silent_p.Y1383Y|ABCA8_uc010wqq.1_Silent_p.Y1378Y	NM_007168	NP_009099	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A member 8	1343	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(2)|skin(1)	3	Breast(10;4.56e-13)																	---	---	---	---
ABCA9	10350	broad.mit.edu	37	17	67047247	67047247	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67047247G>A	uc002jhu.2	-	2	164	c.21C>T	c.(19-21)AGC>AGT	p.S7S	ABCA9_uc010dez.2_Silent_p.S7S|ABCA9_uc002jhv.2_Silent_p.S7S	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A, member 9	7					transport	integral to membrane	ATP binding|ATPase activity			ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)	6	Breast(10;1.47e-12)																	---	---	---	---
KCNJ16	3773	broad.mit.edu	37	17	68128528	68128528	+	Silent	SNP	C	T	T	rs141954099		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:68128528C>T	uc002jin.2	+	5	786	c.300C>T	c.(298-300)GGC>GGT	p.G100G	KCNJ16_uc002jio.2_Silent_p.G100G|KCNJ16_uc002jip.2_Silent_p.G100G|KCNJ16_uc002jiq.2_Silent_p.G132G	NM_018658	NP_061128	Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel J16	100	Extracellular (By similarity).				synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Breast(10;2.96e-09)																	---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71410842	71410842	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:71410842G>A	uc010dfm.2	-	18	2425	c.2425C>T	c.(2425-2427)CGC>TGC	p.R809C	SDK2_uc010dfn.2_Missense_Mutation_p.R488C	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	sidekick 2	809	Fibronectin type-III 3.|Extracellular (Potential).				cell adhesion	integral to membrane				ovary(2)	2																		---	---	---	---
BTBD17	388419	broad.mit.edu	37	17	72352847	72352847	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72352847C>T	uc002jkn.2	-	3	1386	c.1386G>A	c.(1384-1386)CTG>CTA	p.L462L		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17 precursor	462						extracellular region					0																		---	---	---	---
GPRC5C	55890	broad.mit.edu	37	17	72436546	72436546	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72436546A>G	uc002jks.2	+	1	670	c.631A>G	c.(631-633)ATG>GTG	p.M211V	GPRC5C_uc002jkp.2_Missense_Mutation_p.M256V|GPRC5C_uc002jkq.2_Intron|GPRC5C_uc002jkr.2_Missense_Mutation_p.M223V|GPRC5C_uc002jkt.2_Missense_Mutation_p.M211V|GPRC5C_uc002jku.2_5'Flank	NM_018653	NP_061123	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor family C, group 5,	211	Helical; Name=5; (Potential).					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			ovary(2)|prostate(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
CD300C	10871	broad.mit.edu	37	17	72540925	72540925	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72540925C>A	uc002jky.1	-	2	584	c.223G>T	c.(223-225)GCA>TCA	p.A75S		NM_006678	NP_006669	Q08708	CLM6_HUMAN	CD300C antigen precursor	75	Extracellular (Potential).|Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity				0																		---	---	---	---
SLC16A5	9121	broad.mit.edu	37	17	73096200	73096200	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73096200G>A	uc002jmr.2	+	5	814	c.442G>A	c.(442-444)GTC>ATC	p.V148I	SLC16A5_uc002jms.1_Missense_Mutation_p.V148I|SLC16A5_uc002jmt.2_Missense_Mutation_p.V148I|SLC16A5_uc002jmu.2_Missense_Mutation_p.V148I|SLC16A5_uc010wrt.1_Missense_Mutation_p.V188I	NM_004695	NP_004686	O15375	MOT6_HUMAN	solute carrier family 16, member 5	148	Helical; (Potential).				organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)	1	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)													---	---	---	---
GGA3	23163	broad.mit.edu	37	17	73237565	73237565	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73237565G>A	uc002jni.1	-	10	871	c.862C>T	c.(862-864)CGG>TGG	p.R288W	GGA3_uc002jnj.1_Missense_Mutation_p.R255W|GGA3_uc010wrw.1_Missense_Mutation_p.R166W|GGA3_uc002jnk.1_Missense_Mutation_p.R216W|GGA3_uc010wrx.1_Missense_Mutation_p.R166W|GGA3_uc010wry.1_Missense_Mutation_p.R216W	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	ADP-ribosylation factor binding protein 3	288	GAT.|Binds to ARF1 (in long isoform).				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			ovary(1)|breast(1)	2			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)															---	---	---	---
CASKIN2	57513	broad.mit.edu	37	17	73498689	73498689	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73498689G>A	uc002joc.2	-	18	3016	c.2466C>T	c.(2464-2466)ACC>ACT	p.T822T	CASKIN2_uc010wsc.1_Silent_p.T740T	NM_020753	NP_065804	Q8WXE0	CSKI2_HUMAN	cask-interacting protein 2 isoform a	822	Pro-rich.					cytoplasm				pancreas(1)	1	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---
RECQL5	9400	broad.mit.edu	37	17	73627237	73627237	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73627237A>G	uc010dgl.2	-	10	1697	c.1541T>C	c.(1540-1542)CTG>CCG	p.L514P	RECQL5_uc010dgk.2_Missense_Mutation_p.L487P|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	RecQ protein-like 5 isoform 1	514					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			kidney(3)	3	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)										Other_identified_genes_with_known_or_suspected_DNA_repair_function					---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73723516	73723516	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73723516C>T	uc002jpg.2	+	4	381	c.194C>T	c.(193-195)GCG>GTG	p.A65V	ITGB4_uc002jph.2_Missense_Mutation_p.A65V|ITGB4_uc010dgo.2_Missense_Mutation_p.A65V|ITGB4_uc002jpi.3_Missense_Mutation_p.A65V|ITGB4_uc010dgp.1_Missense_Mutation_p.A65V|ITGB4_uc002jpj.2_Missense_Mutation_p.A65V	NM_000213	NP_000204	P16144	ITB4_HUMAN	integrin beta 4 isoform 1 precursor	65	PSI.|Extracellular (Potential).				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			lung(4)	4	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)															---	---	---	---
UNC13D	201294	broad.mit.edu	37	17	73832710	73832710	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:73832710C>T	uc002jpp.2	-	14	1621	c.1241G>A	c.(1240-1242)CGC>CAC	p.R414H	UNC13D_uc010wsk.1_Missense_Mutation_p.R414H|UNC13D_uc002jpq.1_Missense_Mutation_p.R64H|UNC13D_uc010dgq.1_Missense_Mutation_p.R210H	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	unc-13 homolog D	414	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			upper_aerodigestive_tract(1)|skin(1)	2			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)											Familial_Hemophagocytic_Lymphohistiocytosis				---	---	---	---
QRICH2	84074	broad.mit.edu	37	17	74289677	74289677	+	Silent	SNP	G	A	A	rs149890857		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74289677G>A	uc002jrd.1	-	4	813	c.633C>T	c.(631-633)CCC>CCT	p.P211P	QRICH2_uc010wsz.1_Silent_p.P137P|QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	211							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---
Unknown	0	broad.mit.edu	37	17	76482323	76482323	+	IGR	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76482323C>T								DNAH17 (13467 upstream) : CYTH1 (187808 downstream)																																			---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76547694	76547694	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76547694G>A	uc002jvv.1	-	12	1526	c.1420C>T	c.(1420-1422)CGA>TGA	p.R474*						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)															---	---	---	---
DNAH17	8632	broad.mit.edu	37	17	76557929	76557929	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76557929G>A	uc002jvv.1	-	8	915	c.809C>T	c.(808-810)GCG>GTG	p.A270V						RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;											ovary(6)|breast(2)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)															---	---	---	---
LGALS3BP	3959	broad.mit.edu	37	17	76968461	76968461	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76968461G>A	uc002jwh.2	-	6	1134	c.955C>T	c.(955-957)CTG>TTG	p.L319L	LGALS3BP_uc002jwi.2_Silent_p.L125L|LGALS3BP_uc010dhr.2_Silent_p.L125L	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	galectin 3 binding protein	319	BACK.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			central_nervous_system(3)|ovary(1)	4			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)															---	---	---	---
C1QTNF1	114897	broad.mit.edu	37	17	77044096	77044096	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:77044096G>A	uc002jwp.2	+	4	1112	c.772G>A	c.(772-774)GCC>ACC	p.A258T	C1QTNF1_uc002jwq.2_Missense_Mutation_p.A176T|C1QTNF1_uc002jwr.3_Missense_Mutation_p.A268T|C1QTNF1_uc002jws.2_Missense_Mutation_p.A258T|C1QTNF1_uc002jwt.2_Missense_Mutation_p.A356T	NM_030968	NP_112230	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	258	C1q.					collagen				ovary(1)	1			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)															---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78318681	78318681	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78318681G>A	uc002jyh.1	+	4	988	c.765G>A	c.(763-765)ACG>ACA	p.T255T		NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	ring finger protein 213	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment										ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1)	21	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)															---	---	---	---
RPTOR	57521	broad.mit.edu	37	17	78811718	78811718	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:78811718G>A	uc002jyt.1	+						RPTOR_uc010wuf.1_Intron|RPTOR_uc010wug.1_Intron	NM_020761	NP_065812			raptor isoform 1						cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			lung(4)|urinary_tract(1)|ovary(1)	6																		---	---	---	---
AATK	9625	broad.mit.edu	37	17	79095756	79095756	+	Silent	SNP	G	A	A	rs55881512		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79095756G>A	uc010dia.2	-	11	2060	c.1980C>T	c.(1978-1980)GGC>GGT	p.G660G	AATK_uc010dhz.2_RNA	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	660						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)															---	---	---	---
BAHCC1	57597	broad.mit.edu	37	17	79411837	79411837	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79411837G>A	uc002kaf.2	+	6	2656	c.2656G>A	c.(2656-2658)GCC>ACC	p.A886T	BAHCC1_uc002kae.2_Missense_Mutation_p.A85T	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	BAH domain and coiled-coil containing 1	886	Pro-rich.						DNA binding			ovary(1)	1	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)															---	---	---	---
HGS	9146	broad.mit.edu	37	17	79662032	79662032	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79662032G>A	uc002kbg.2	+	13	1131	c.1054G>A	c.(1054-1056)GTG>ATG	p.V352M		NM_004712	NP_004703	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine	352	Interaction with SNX1 (By similarity).|Pro-rich.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)															---	---	---	---
NOTUM	147111	broad.mit.edu	37	17	79914789	79914789	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79914789G>A	uc010wvg.1	-	7	1129	c.857C>T	c.(856-858)GCG>GTG	p.A286V		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog precursor	286						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)															---	---	---	---
FASN	2194	broad.mit.edu	37	17	80044375	80044375	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80044375C>T	uc002kdu.2	-	22	3604	c.3487G>A	c.(3487-3489)GGA>AGA	p.G1163R	FASN_uc002kdw.1_Missense_Mutation_p.G379R	NM_004104	NP_004095	P49327	FAS_HUMAN	fatty acid synthase	1163					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(1)	1	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)													---	---	---	---
C17orf101	79701	broad.mit.edu	37	17	80361850	80361850	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80361850G>A	uc002keu.1	-	7	763	c.662C>T	c.(661-663)ACG>ATG	p.T221M	C17orf101_uc002ket.1_Missense_Mutation_p.T221M|C17orf101_uc010dip.1_RNA	NM_024648	NP_078924	Q6PK18	CQ101_HUMAN	hypothetical protein LOC79701 isoform 1	221	Fe2OG dioxygenase.|Lumenal (Potential).					integral to membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(1)	1																		---	---	---	---
TBCD	6904	broad.mit.edu	37	17	80765497	80765497	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:80765497C>T	uc002kfz.2	+	11	1231	c.1101C>T	c.(1099-1101)GTC>GTT	p.V367V	TBCD_uc002kfx.1_Silent_p.V350V|TBCD_uc002kfy.1_Silent_p.V367V	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	beta-tubulin cofactor D	367	HEAT 1.				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity				0	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)															---	---	---	---
DLGAP1	9229	broad.mit.edu	37	18	3534216	3534216	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3534216G>A	uc002kmf.2	-	7	2522	c.2455C>T	c.(2455-2457)CGG>TGG	p.R819W	DLGAP1_uc010wyz.1_Missense_Mutation_p.R819W|DLGAP1_uc002kme.1_Missense_Mutation_p.R517W|DLGAP1_uc010dkn.2_Missense_Mutation_p.R527W|DLGAP1_uc010wyw.1_Missense_Mutation_p.R525W|DLGAP1_uc010wyx.1_Missense_Mutation_p.R541W|DLGAP1_uc010wyy.1_Missense_Mutation_p.R503W|DLGAP1_uc002kmg.2_Missense_Mutation_p.R517W	NM_004746	NP_004737	O14490	DLGP1_HUMAN	discs large homolog-associated protein 1 isoform	819					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				ovary(2)|pancreas(1)|skin(1)	4		Colorectal(8;0.0257)																---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5397138	5397138	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5397138G>A	uc002kmt.1	-	18	2846	c.2760C>T	c.(2758-2760)GCC>GCT	p.A920A	EPB41L3_uc010wzh.1_Silent_p.A751A|EPB41L3_uc002kmu.1_Silent_p.A698A|EPB41L3_uc010dkq.1_Silent_p.A589A|EPB41L3_uc002kms.1_Silent_p.A155A|EPB41L3_uc010wze.1_Silent_p.A225A|EPB41L3_uc010wzf.1_Silent_p.A217A|EPB41L3_uc010wzg.1_Silent_p.A192A|EPB41L3_uc010dkr.2_Silent_p.A312A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	920	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5																		---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5397409	5397409	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5397409G>A	uc002kmt.1	-	18	2575	c.2489C>T	c.(2488-2490)ACG>ATG	p.T830M	EPB41L3_uc010wzh.1_Missense_Mutation_p.T661M|EPB41L3_uc002kmu.1_Missense_Mutation_p.T608M|EPB41L3_uc010dkq.1_Missense_Mutation_p.T499M|EPB41L3_uc002kms.1_Missense_Mutation_p.T65M|EPB41L3_uc010wze.1_Missense_Mutation_p.T135M|EPB41L3_uc010wzf.1_Missense_Mutation_p.T127M|EPB41L3_uc010wzg.1_Missense_Mutation_p.T102M|EPB41L3_uc010dkr.2_Missense_Mutation_p.T222M	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	830	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5																		---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5428378	5428378	+	Silent	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5428378G>T	uc002kmt.1	-	9	1085	c.999C>A	c.(997-999)GCC>GCA	p.A333A	EPB41L3_uc010wzh.1_Silent_p.A333A|EPB41L3_uc002kmu.1_Silent_p.A333A|EPB41L3_uc010dkq.1_Silent_p.A224A|EPB41L3_uc010dks.1_Silent_p.A355A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	333	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5																		---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6977842	6977842	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6977842G>C	uc002knm.2	-	44	6323	c.6229C>G	c.(6229-6231)CAA>GAA	p.Q2077E	LAMA1_uc010wzj.1_Missense_Mutation_p.Q1553E	NM_005559	NP_005550	P25391	LAMA1_HUMAN	laminin, alpha 1 precursor	2077	Domain II and I.				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)													---	---	---	---
PPP4R1	9989	broad.mit.edu	37	18	9563518	9563518	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9563518C>T	uc002koe.1	-	12	1722	c.1604G>A	c.(1603-1605)CGT>CAT	p.R535H	PPP4R1_uc002kof.2_Translation_Start_Site|PPP4R1_uc010wzo.1_Missense_Mutation_p.R381H|PPP4R1_uc002kod.1_Missense_Mutation_p.R518H|PPP4R1_uc010wzp.1_RNA	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	535	HEAT 10.				protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			skin(1)	1																		---	---	---	---
MPPE1	65258	broad.mit.edu	37	18	11884458	11884458	+	Missense_Mutation	SNP	G	A	A	rs151247671	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:11884458G>A	uc002kqf.2	-	11	1818	c.1177C>T	c.(1177-1179)CGT>TGT	p.R393C	MPPE1_uc002kqn.2_Missense_Mutation_p.R330C|MPPE1_uc002kqg.2_RNA|MPPE1_uc002kqh.2_RNA|MPPE1_uc002kqi.2_RNA|MPPE1_uc002kqj.2_Missense_Mutation_p.R394C|MPPE1_uc002kqk.2_Missense_Mutation_p.R371C|MPPE1_uc002kql.2_Missense_Mutation_p.R394C|MPPE1_uc002kqm.2_Missense_Mutation_p.R330C	NM_023075	NP_075563	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1 precursor	393	Di-lysine motif.			KRK->ARA: Affects subcellular localization.	ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity				0																		---	---	---	---
C18orf19	125228	broad.mit.edu	37	18	13666696	13666696	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:13666696C>T	uc010dlh.2	-	5	1034	c.602G>A	c.(601-603)CGG>CAG	p.R201Q	C18orf19_uc010dlg.2_Missense_Mutation_p.G164S|C18orf19_uc010dli.2_Missense_Mutation_p.R201Q|C18orf19_uc002ksj.3_Missense_Mutation_p.R201Q|C18orf19_uc010dlj.2_RNA	NM_001098801	NP_001092271	Q96ND0	CR019_HUMAN	hypothetical protein LOC125228	201	DUF1279.					integral to membrane				breast(2)	2																		---	---	---	---
ESCO1	114799	broad.mit.edu	37	18	19154745	19154745	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:19154745G>A	uc002kth.1	-	4	994	c.60C>T	c.(58-60)GAC>GAT	p.D20D	ESCO1_uc002kti.1_RNA	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	establishment of cohesion 1 homolog 1	20					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding				0																		---	---	---	---
KCTD1	284252	broad.mit.edu	37	18	24039773	24039773	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:24039773G>A	uc002kvw.2	-	4	986	c.426C>T	c.(424-426)TGC>TGT	p.C142C	KCTD1_uc010xbj.1_Silent_p.C750C|KCTD1_uc010xbk.1_Silent_p.C142C|KCTD1_uc002kvy.2_Silent_p.C60C	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	potassium channel tetramerisation domain	142					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			ovary(1)	1	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)															---	---	---	---
KIAA1012	22878	broad.mit.edu	37	18	29470763	29470763	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29470763G>A	uc002kxc.3	-	12	2027	c.1663C>T	c.(1663-1665)CCC>TCC	p.P555S	KIAA1012_uc002kxb.3_Missense_Mutation_p.P501S|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Missense_Mutation_p.P555S	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	555					ER to Golgi vesicle-mediated transport	cis-Golgi network					0																		---	---	---	---
C18orf34	374864	broad.mit.edu	37	18	30804828	30804828	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:30804828C>T	uc002kxn.2	-	16	1871	c.1729G>A	c.(1729-1731)GCC>ACC	p.A577T	C18orf34_uc010dme.1_Missense_Mutation_p.A91T|C18orf34_uc010xbr.1_Missense_Mutation_p.A577T|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.A577T|C18orf34_uc002kxp.2_Missense_Mutation_p.A577T	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	hypothetical protein LOC374864 isoform 1	577										ovary(1)	1																		---	---	---	---
CELF4	56853	broad.mit.edu	37	18	34853049	34853049	+	Silent	SNP	G	A	A	rs140525001		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:34853049G>A	uc002lae.2	-	7	1275	c.879C>T	c.(877-879)GCC>GCT	p.A293A	CELF4_uc010dnd.1_Silent_p.A291A|CELF4_uc002lag.2_Silent_p.A283A|CELF4_uc002laf.2_Silent_p.A288A|CELF4_uc002lai.2_Silent_p.A278A|CELF4_uc002lah.1_Silent_p.A18A|CELF4_uc002laj.1_Missense_Mutation_p.R129C	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	bruno-like 4, RNA binding protein isoform 1	293	Sufficient for RNA-binding and MSE- dependent splicing activity.|Ala-rich.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			ovary(2)	2																		---	---	---	---
RIT2	6014	broad.mit.edu	37	18	40503663	40503663	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:40503663G>A	uc002lav.2	-	4	473	c.300C>T	c.(298-300)TCC>TCT	p.S100S	RIT2_uc010dnf.2_Silent_p.S100S	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	100					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			ovary(1)	1																		---	---	---	---
PIAS2	9063	broad.mit.edu	37	18	44401028	44401028	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44401028T>C	uc002lck.2	-	12	1674	c.1516A>G	c.(1516-1518)ATG>GTG	p.M506V	PIAS2_uc010dnp.2_Missense_Mutation_p.M204V|PIAS2_uc002lcl.2_Missense_Mutation_p.M506V|PIAS2_uc010xda.1_Missense_Mutation_p.M204V	NM_004671	NP_004662	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT X isoform	506					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			ovary(2)|breast(1)|skin(1)	4																		---	---	---	---
KATNAL2	83473	broad.mit.edu	37	18	44595966	44595966	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44595966G>A	uc002lco.2	+	10	981	c.787G>A	c.(787-789)GTT>ATT	p.V263I	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Missense_Mutation_p.V190I	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	335						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4																		---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47811527	47811527	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47811527G>A	uc002leq.3	-	7	1490	c.757C>T	c.(757-759)CGC>TGC	p.R253C	CXXC1_uc002lep.3_Missense_Mutation_p.R110C|CXXC1_uc002ler.3_Missense_Mutation_p.R253C|CXXC1_uc010doy.2_Missense_Mutation_p.R253C|CXXC1_uc002les.2_Missense_Mutation_p.R253C	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	CXXC finger 1 (PHD domain) isoform 2	253					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---
DCC	1630	broad.mit.edu	37	18	50278490	50278490	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:50278490G>A	uc002lfe.1	+	2	745	c.158G>A	c.(157-159)CGG>CAG	p.R53Q	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	netrin receptor DCC precursor	53	Extracellular (Potential).|Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)														---	---	---	---
MBD2	8932	broad.mit.edu	37	18	51691001	51691001	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:51691001G>A	uc002lfg.1	-	5	1230	c.1001C>T	c.(1000-1002)GCG>GTG	p.A334V		NM_003927	NP_003918	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2 isoform 1	334					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding				0				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)													---	---	---	---
NEDD4L	23327	broad.mit.edu	37	18	56052755	56052755	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56052755C>T	uc002lgy.2	+						NEDD4L_uc002lgz.2_Intron|NEDD4L_uc002lgx.2_Intron|NEDD4L_uc010xee.1_Intron|NEDD4L_uc002lhc.2_Intron|NEDD4L_uc002lhd.2_Intron|NEDD4L_uc002lhb.2_Intron|NEDD4L_uc002lhe.2_Intron|NEDD4L_uc002lhf.2_Intron|NEDD4L_uc002lhg.2_Intron|NEDD4L_uc002lhh.2_Intron|NEDD4L_uc010dpn.2_Intron	NM_001144967	NP_001138439			neural precursor cell expressed, developmentally						cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			lung(4)	4																		---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56204775	56204775	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56204775C>T	uc002lhj.3	-	5	2858	c.2644G>A	c.(2644-2646)GGC>AGC	p.G882S	ALPK2_uc002lhk.1_Missense_Mutation_p.G213S	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	882							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14																		---	---	---	---
RNF152	220441	broad.mit.edu	37	18	59483219	59483219	+	Missense_Mutation	SNP	C	T	T	rs146680520		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59483219C>T	uc002lih.1	-	2	890	c.478G>A	c.(478-480)GTG>ATG	p.V160M		NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	ring finger protein 152	160					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)	1		Colorectal(73;0.186)																---	---	---	---
BCL2	596	broad.mit.edu	37	18	60985399	60985399	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:60985399C>T	uc002lit.1	-	2	994	c.501G>A	c.(499-501)TCG>TCA	p.S167S	BCL2_uc002liu.1_Silent_p.S167S|BCL2_uc002liv.1_Silent_p.S167S	NM_000633	NP_000624	P10415	BCL2_HUMAN	B-cell lymphoma protein 2 alpha isoform	167					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)	1		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)			T	IGH@	NHL|CLL								---	---	---	---
SERPINB13	5275	broad.mit.edu	37	18	61264399	61264399	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:61264399C>T	uc002ljc.2	+	8	1146	c.978C>T	c.(976-978)TAC>TAT	p.Y326Y	SERPINB13_uc002ljd.2_Silent_p.Y190Y|SERPINB13_uc010xep.1_Silent_p.Y335Y|SERPINB13_uc010xeq.1_Silent_p.Y147Y|SERPINB13_uc010xer.1_Silent_p.Y147Y	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	serine (or cysteine) proteinase inhibitor, clade	326					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			ovary(1)	1																		---	---	---	---
CDH7	1005	broad.mit.edu	37	18	63548083	63548083	+	Nonsense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:63548083C>T	uc002ljz.2	+	12	2636	c.2311C>T	c.(2311-2313)CGA>TGA	p.R771*	CDH7_uc002lkb.2_Nonsense_Mutation_p.R771*	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2 preproprotein	771	Cytoplasmic (Potential).				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|pancreas(1)|skin(1)	4		Esophageal squamous(42;0.129)																---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64176286	64176286	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:64176286C>A	uc002lkc.1	-	11	1912	c.1774G>T	c.(1774-1776)GGA>TGA	p.G592*	CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Intron	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	cadherin 19, type 2 preproprotein	592	Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(1)|skin(1)	2		Esophageal squamous(42;0.0132)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67755229	67755229	+	Missense_Mutation	SNP	C	T	T	rs75356692	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67755229C>T	uc002lkp.2	-	31	4366	c.4298G>A	c.(4297-4299)CGG>CAG	p.R1433Q	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.R521Q	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	1433							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
RTTN	25914	broad.mit.edu	37	18	67833395	67833395	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:67833395A>G	uc002lkp.2	-	14	1900	c.1832T>C	c.(1831-1833)CTA>CCA	p.L611P	RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_5'UTR	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	rotatin	611							binding			ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1)	8		Esophageal squamous(42;0.129)																---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72345057	72345057	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72345057T>C	uc002llw.2	+	1	2139	c.2082T>C	c.(2080-2082)GGT>GGC	p.G694G	ZNF407_uc010xfc.1_Silent_p.G694G|ZNF407_uc010dqu.1_Silent_p.G694G|ZNF407_uc002llu.2_Silent_p.G693G	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)														---	---	---	---
ZNF516	9658	broad.mit.edu	37	18	74154389	74154389	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74154389C>T	uc010dqx.1	-	2	857	c.622G>A	c.(622-624)GCG>ACG	p.A208T	ZNF516_uc002lme.2_RNA	NM_014643	NP_055458	Q92618	ZN516_HUMAN	zinc finger protein 516	208	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)														---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74593458	74593458	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74593458G>A	uc002lmi.2	+	9	1599	c.1401G>A	c.(1399-1401)CCG>CCA	p.P467P	ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Silent_p.P467P	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	467					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)														---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74607053	74607053	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74607053G>A	uc002lmi.2	+	10	1694	c.1496G>A	c.(1495-1497)CGC>CAC	p.R499H	ZNF236_uc002lmj.2_RNA	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	zinc finger protein 236	499	C2H2-type 10.				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)	4		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)														---	---	---	---
GALR1	2587	broad.mit.edu	37	18	74962969	74962969	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:74962969C>T	uc002lms.3	+	1	962	c.465C>T	c.(463-465)GGC>GGT	p.G155G		NM_001480	NP_001471	P47211	GALR1_HUMAN	galanin receptor 1	155	Helical; Name=4; (Potential).				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			lung(1)	1		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)														---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76752284	76752284	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:76752284C>T	uc002lmt.2	+	2	293	c.293C>T	c.(292-294)TCG>TTG	p.S98L	SALL3_uc010dra.2_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	98					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)														---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76754820	76754820	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:76754820C>T	uc002lmt.2	+	2	2829	c.2829C>T	c.(2827-2829)GCC>GCT	p.A943A	SALL3_uc010dra.2_Silent_p.A550A	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	943					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)														---	---	---	---
C19orf21	126353	broad.mit.edu	37	19	757886	757886	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:757886C>T	uc002lpo.2	+	2	1023	c.940C>T	c.(940-942)CGG>TGG	p.R314W		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	hypothetical protein LOC126353	314										upper_aerodigestive_tract(1)	1		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
CSNK1G2	1455	broad.mit.edu	37	19	1978933	1978933	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1978933C>T	uc002lul.3	+	7	1046	c.523C>T	c.(523-525)CGC>TGC	p.R175C	CSNK1G2_uc010dsu.2_Missense_Mutation_p.R127C	NM_001319	NP_001310	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	175	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			stomach(1)	1		Ovarian(11;2.11e-07)|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)														---	---	---	---
ZNF555	148254	broad.mit.edu	37	19	2853436	2853436	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2853436G>T	uc002lwo.2	+	4	1462	c.1373G>T	c.(1372-1374)GGG>GTG	p.G458V	ZNF555_uc002lwn.3_Missense_Mutation_p.G457V	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	458	C2H2-type 11.				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)														---	---	---	---
ZNF555	148254	broad.mit.edu	37	19	2853909	2853909	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2853909A>G	uc002lwo.2	+	4	1935	c.1846A>G	c.(1846-1848)AGA>GGA	p.R616G	ZNF555_uc002lwn.3_Missense_Mutation_p.R615G	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	616					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)														---	---	---	---
NCLN	56926	broad.mit.edu	37	19	3204576	3204576	+	Silent	SNP	C	T	T	rs145485457	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3204576C>T	uc002lxi.2	+	9	1189	c.1035C>T	c.(1033-1035)GCC>GCT	p.A345A	NCLN_uc002lxh.1_RNA|NCLN_uc002lxj.1_RNA|NCLN_uc002lxk.2_5'UTR	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	nicalin precursor	345	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)														---	---	---	---
CELF5	60680	broad.mit.edu	37	19	3251010	3251010	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3251010G>C	uc002lxm.2	+	2	324	c.287G>C	c.(286-288)AGG>ACG	p.R96T	CELF5_uc002lxl.1_Missense_Mutation_p.R96T|CELF5_uc010dtj.1_Missense_Mutation_p.R96T|CELF5_uc010xhg.1_5'UTR	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	bruno-like 5, RNA binding protein	96	RRM 1.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			ovary(2)	2																		---	---	---	---
C19orf28	126321	broad.mit.edu	37	19	3546063	3546063	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3546063G>A	uc002lxz.2	-						C19orf28_uc002lxw.2_Intron|C19orf28_uc002lxx.2_Intron|C19orf28_uc002lxy.2_Intron	NM_174983	NP_778148			hypothetical protein LOC126321 isoform c						transmembrane transport	integral to membrane				breast(1)|pancreas(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18)												OREG0025153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
EEF2	1938	broad.mit.edu	37	19	3979814	3979814	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3979814T>C	uc002lze.2	-	10	1680	c.1597A>G	c.(1597-1599)ATG>GTG	p.M533V		NM_001961	NP_001952	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	533						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
PIAS4	51588	broad.mit.edu	37	19	4033135	4033135	+	Silent	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4033135C>A	uc002lzg.2	+	8	955	c.945C>A	c.(943-945)ATC>ATA	p.I315I		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	315	SP-RING-type.				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			pancreas(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---
CCDC94	55702	broad.mit.edu	37	19	4251122	4251122	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4251122G>A	uc002lzv.3	+	3	257	c.224G>A	c.(223-225)CGC>CAC	p.R75H		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	75											0				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)														---	---	---	---
FEM1A	55527	broad.mit.edu	37	19	4793005	4793005	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:4793005G>A	uc002mbf.2	+	1	1278	c.1139G>A	c.(1138-1140)CGC>CAC	p.R380H	uc002mbg.1_RNA	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a	380					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)														---	---	---	---
KDM4B	23030	broad.mit.edu	37	19	5110672	5110672	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5110672G>A	uc002mbq.3	+	10	1184	c.958G>A	c.(958-960)GTG>ATG	p.V320M	KDM4B_uc010xil.1_Missense_Mutation_p.V320M|KDM4B_uc010xim.1_Missense_Mutation_p.V320M|KDM4B_uc002mbr.3_Missense_Mutation_p.V78M	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	320					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1																		---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5215293	5215293	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5215293G>A	uc002mbv.2	-						PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Intron|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841			protein tyrosine phosphatase, receptor type,						cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)														---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5225808	5225808	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5225808C>T	uc002mbv.2	-	17	2658	c.2424G>A	c.(2422-2424)ACG>ACA	p.T808T	PTPRS_uc002mbu.1_Intron|PTPRS_uc010xin.1_Intron|PTPRS_uc002mbw.2_Silent_p.T786T|PTPRS_uc002mbx.2_Intron|PTPRS_uc002mby.2_Intron	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type,	808	Fibronectin type-III 5.|Extracellular (Potential).				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			large_intestine(2)|ovary(1)|central_nervous_system(1)	4				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)														---	---	---	---
SAFB	6294	broad.mit.edu	37	19	5661786	5661786	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5661786G>A	uc002mcf.2	+	15	2173	c.2120G>A	c.(2119-2121)CGG>CAG	p.R707Q	SAFB_uc002mcg.2_Missense_Mutation_p.R707Q|SAFB_uc002mce.3_Missense_Mutation_p.R706Q|SAFB_uc010xir.1_Missense_Mutation_p.R706Q|SAFB_uc010xis.1_Missense_Mutation_p.R638Q|SAFB_uc010xit.1_Missense_Mutation_p.R549Q|SAFB_uc010xiu.1_Missense_Mutation_p.R506Q	NM_002967	NP_002958	Q15424	SAFB1_HUMAN	scaffold attachment factor B	707	Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			ovary(1)|liver(1)|skin(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)														---	---	---	---
C3	718	broad.mit.edu	37	19	6707512	6707512	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6707512C>T	uc002mfm.2	-	16	2074	c.2012G>A	c.(2011-2013)CGT>CAT	p.R671H		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	671					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)														---	---	---	---
SH2D3A	10045	broad.mit.edu	37	19	6760665	6760665	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6760665G>A	uc002mft.2	-	3	597	c.403C>T	c.(403-405)CGG>TGG	p.R135W	SH2D3A_uc010xjg.1_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	135					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(2)	2																		---	---	---	---
LRRC8E	80131	broad.mit.edu	37	19	7964277	7964277	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7964277G>A	uc002mir.2	+	3	971	c.870G>A	c.(868-870)ACG>ACA	p.T290T		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member	290						integral to membrane				lung(1)|pancreas(1)	2																		---	---	---	---
SNAPC2	6618	broad.mit.edu	37	19	7987660	7987660	+	3'UTR	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7987660G>A	uc002miw.1	+	5					SNAPC2_uc002mix.1_RNA	NM_003083	NP_003074			small nuclear RNA activating complex,						snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
HNRNPM	4670	broad.mit.edu	37	19	8553714	8553714	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:8553714C>T	uc010dwe.2	+	16	2249	c.2169C>T	c.(2167-2169)GAC>GAT	p.D723D	HNRNPM_uc010dwd.2_Silent_p.D684D|HNRNPM_uc002mka.2_Silent_p.D588D|HNRNPM_uc002mkb.1_RNA	NM_005968	NP_005959	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	723	RRM 3.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding				0																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9026243	9026243	+	Missense_Mutation	SNP	C	T	T	rs75003158	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9026243C>T	uc002mkp.2	-	14	36947	c.36743G>A	c.(36742-36744)CGT>CAT	p.R12248H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	12250	SEA 2.|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																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9063743	9063743	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9063743T>C	uc002mkp.2	-	3	23907	c.23703A>G	c.(23701-23703)GCA>GCG	p.A7901A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7903	Ser-rich.|Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9066225	9066225	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9066225A>T	uc002mkp.2	-	3	21425	c.21221T>A	c.(21220-21222)CTC>CAC	p.L7074H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	7076	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																		---	---	---	---
OR7D2	162998	broad.mit.edu	37	19	9296685	9296685	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9296685C>T	uc002mkz.1	+	1	416	c.228C>T	c.(226-228)TGC>TGT	p.C76C		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D,	76	Extracellular (Potential).				regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---
PPAN-P2RY11	692312	broad.mit.edu	37	19	10220616	10220616	+	Silent	SNP	G	A	A	rs143244427		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10220616G>A	uc002mna.2	+	7	618	c.618G>A	c.(616-618)GCG>GCA	p.A206A	PPAN-P2RY11_uc010xla.1_Silent_p.A206A|P2RY11_uc002mnc.2_5'Flank|PPAN_uc002mmz.1_Silent_p.A206A|PPAN_uc002mnb.1_Silent_p.A153A	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	PPAN-P2RY11 protein	206	Brix.				RNA splicing	nucleolus	protein binding			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)															---	---	---	---
ICAM1	3383	broad.mit.edu	37	19	10394744	10394744	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10394744C>T	uc002mnq.2	+	4	992	c.673C>T	c.(673-675)CGG>TGG	p.R225W	ICAM1_uc010xle.1_Intron|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1 precursor	225	Extracellular (Potential).				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)													---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10597388	10597388	+	Silent	SNP	G	A	A	rs139000421		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10597388G>A	uc002moq.1	-	6	1971	c.1815C>T	c.(1813-1815)GGC>GGT	p.G605G	KEAP1_uc002mop.1_Silent_p.G264G|KEAP1_uc002mor.1_Silent_p.G605G	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	605	Kelch 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			lung(12)|breast(3)|ovary(1)|pancreas(1)	17			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)															---	---	---	---
DNM2	1785	broad.mit.edu	37	19	10909172	10909172	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10909172A>G	uc002mps.1	+	11	1510	c.1346A>G	c.(1345-1347)TAC>TGC	p.Y449C	DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.Y449C|DNM2_uc002mpv.1_Missense_Mutation_p.Y449C|DNM2_uc002mpu.1_Missense_Mutation_p.Y449C|DNM2_uc010dxl.1_Missense_Mutation_p.Y449C|DNM2_uc002mpw.2_Missense_Mutation_p.Y182C	NM_001005361	NP_001005361	P50570	DYN2_HUMAN	dynamin 2 isoform 2	449					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)															---	---	---	---
LDLR	3949	broad.mit.edu	37	19	11233905	11233905	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11233905C>T	uc002mqk.3	+	15	2364	c.2196C>T	c.(2194-2196)AGC>AGT	p.S732S	LDLR_uc010xlk.1_Silent_p.S732S|LDLR_uc010xll.1_Silent_p.S691S|LDLR_uc010xlm.1_Silent_p.S585S|LDLR_uc010xln.1_Silent_p.S554S|LDLR_uc010xlo.1_Silent_p.S564S	NM_000527	NP_000518	P01130	LDLR_HUMAN	low density lipoprotein receptor precursor	732	Clustered O-linked oligosaccharides.|Extracellular (Potential).				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)													---	---	---	---
KANK2	25959	broad.mit.edu	37	19	11287398	11287398	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11287398G>A	uc010dxv.2	-	9	2174	c.1616C>T	c.(1615-1617)CCG>CTG	p.P539L	KANK2_uc002mqm.2_Missense_Mutation_p.P547L|KANK2_uc002mqo.3_Missense_Mutation_p.P539L|KANK2_uc002mqp.1_Missense_Mutation_p.P348L	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	ankyrin repeat domain 25 isoform 1	539											0																		---	---	---	---
DOCK6	57572	broad.mit.edu	37	19	11343992	11343992	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11343992G>A	uc002mqs.3	-	22	2646	c.2605C>T	c.(2605-2607)CGC>TGC	p.R869C	DOCK6_uc010xlq.1_Missense_Mutation_p.R173C	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	869					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			ovary(2)|skin(1)	3																		---	---	---	---
ELAVL3	1995	broad.mit.edu	37	19	11577463	11577463	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11577463G>A	uc002mry.1	-	2	569	c.189C>T	c.(187-189)GGC>GGT	p.G63G	ELAVL3_uc002mrx.1_Silent_p.G63G	NM_001420	NP_001411	Q14576	ELAV3_HUMAN	ELAV-like protein 3 isoform 1	63	RRM 1.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding			ovary(1)|breast(1)|skin(1)	3																		---	---	---	---
ZNF799	90576	broad.mit.edu	37	19	12502776	12502776	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12502776G>A	uc010dyt.2	-	4	586	c.436C>T	c.(436-438)CGT>TGT	p.R146C	ZNF799_uc002mts.3_Intron	NM_001080821	NP_001074290	Q96GE5	ZN799_HUMAN	zinc finger protein 799	146	C2H2-type 1; degenerate.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|ovary(2)|skin(1)	6																		---	---	---	---
MAN2B1	4125	broad.mit.edu	37	19	12774210	12774210	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12774210G>A	uc002mub.2	-	6	906	c.830C>T	c.(829-831)CCG>CTG	p.P277L	MAN2B1_uc010dyv.1_Missense_Mutation_p.P277L	NM_000528	NP_000519	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	277					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			ovary(4)|central_nervous_system(2)	6																		---	---	---	---
DAND5	199699	broad.mit.edu	37	19	13084419	13084419	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13084419G>A	uc002mwc.1	+	2	584	c.541G>A	c.(541-543)GAG>AAG	p.E181K	DAND5_uc010dyz.1_3'UTR	NM_152654	NP_689867	Q8N907	DAND5_HUMAN	dante precursor	181	CTCK.					extracellular region				ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)															---	---	---	---
NACC1	112939	broad.mit.edu	37	19	13246070	13246070	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13246070C>A	uc002mwm.2	+	2	217	c.49C>A	c.(49-51)CTG>ATG	p.L17M		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	transcriptional repressor NAC1	17					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body					0																		---	---	---	---
CACNA1A	773	broad.mit.edu	37	19	13386663	13386663	+	Splice_Site	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13386663C>T	uc010dze.2	-	24	4228	c.3992_splice	c.e24+1	p.T1331_splice	CACNA1A_uc010xnd.1_Intron|CACNA1A_uc002mwx.3_Intron|CACNA1A_uc010dzc.2_Splice_Site_p.T856_splice|CACNA1A_uc002mwy.3_Splice_Site_p.T1330_splice|CACNA1A_uc010xne.1_Splice_Site_p.T859_splice	NM_001127221	NP_001120693			calcium channel, alpha 1A subunit isoform 3						cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			large_intestine(2)	2			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)													---	---	---	---
MIR181C	406957	broad.mit.edu	37	19	13985588	13985588	+	RNA	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13985588G>A	hsa-mir-181c|MI0000271	+			c.76G>A			uc010xnh.1_RNA|MIR181D_hsa-mir-181d|MI0003139_5'Flank|uc010dzg.1_5'Flank|NANOS3_uc002mxj.3_5'Flank																	0																		---	---	---	---
CC2D1A	54862	broad.mit.edu	37	19	14031642	14031642	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14031642C>T	uc002mxo.2	+	14	1847	c.1548C>T	c.(1546-1548)GAC>GAT	p.D516D	CC2D1A_uc002mxp.2_Silent_p.D516D|CC2D1A_uc010dzh.2_Silent_p.D85D|CC2D1A_uc002mxq.1_Silent_p.D161D	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	516	Potential.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity				0			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)															---	---	---	---
RFX1	5989	broad.mit.edu	37	19	14074439	14074439	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14074439G>A	uc002mxv.2	-	18	2753	c.2481C>T	c.(2479-2481)GGC>GGT	p.G827G		NM_002918	NP_002909	P22670	RFX1_HUMAN	regulatory factor X1	827	Necessary for dimerization.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			lung(1)|pancreas(1)	2			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)															---	---	---	---
GIPC1	10755	broad.mit.edu	37	19	14593574	14593574	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14593574C>T	uc002myt.2	-	4	485	c.215G>A	c.(214-216)CGC>CAC	p.R72H	GIPC1_uc002myu.2_Missense_Mutation_p.R72H|GIPC1_uc002myv.2_Intron|GIPC1_uc002myw.2_Intron|GIPC1_uc002myx.2_Missense_Mutation_p.R72H|GIPC1_uc002myy.2_Intron	NM_005716	NP_005707	O14908	GIPC1_HUMAN	regulator of G-protein signalling 19 interacting	72					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding				0																		---	---	---	---
ZNF333	84449	broad.mit.edu	37	19	14805828	14805828	+	Missense_Mutation	SNP	G	A	A	rs141404811	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:14805828G>A	uc002mzn.2	+	3	144	c.10G>A	c.(10-12)GTC>ATC	p.V4I	ZNF333_uc010dzq.2_Missense_Mutation_p.V4I|ZNF333_uc002mzk.3_5'UTR|ZNF333_uc002mzl.3_Missense_Mutation_p.V4I|ZNF333_uc002mzm.2_Missense_Mutation_p.V4I|ZNF333_uc010dzr.1_RNA	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	zinc finger protein 333	4	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
ILVBL	10994	broad.mit.edu	37	19	15226182	15226182	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15226182C>T	uc002nam.2	-	16	1901	c.1780G>A	c.(1780-1782)GAG>AAG	p.E594K	ILVBL_uc010xof.1_Missense_Mutation_p.E235K|ILVBL_uc010dzw.2_Missense_Mutation_p.E487K	NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	594						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			ovary(2)	2																		---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15289758	15289758	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15289758C>T	uc002nan.2	-						NOTCH3_uc002nao.1_Intron	NM_000435	NP_000426			Notch homolog 3 precursor						Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)															---	---	---	---
AKAP8L	26993	broad.mit.edu	37	19	15508372	15508372	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15508372C>T	uc002naw.1	-	11	1463	c.1364G>A	c.(1363-1365)GGC>GAC	p.G455D	AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.G394D	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	455						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---
PGLYRP2	114770	broad.mit.edu	37	19	15582776	15582776	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15582776G>A	uc002nbf.3	-	3	1401	c.1268C>T	c.(1267-1269)ACG>ATG	p.T423M	PGLYRP2_uc002nbg.3_Missense_Mutation_p.T423M	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2 precursor	423					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			ovary(3)	3																		---	---	---	---
OR10H2	26538	broad.mit.edu	37	19	15839443	15839443	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15839443C>T	uc002nbm.2	+	1	610	c.590C>T	c.(589-591)GCC>GTC	p.A197V		NM_013939	NP_039227	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H,	197	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)																	---	---	---	---
CYP4F11	57834	broad.mit.edu	37	19	16025104	16025104	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16025104G>A	uc002nbu.2	-						CYP4F11_uc010eab.1_Intron|CYP4F11_uc002nbt.2_Intron	NM_001128932	NP_001122404			cytochrome P450 family 4 subfamily F polypeptide						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1																		---	---	---	---
CYP4F11	57834	broad.mit.edu	37	19	16034771	16034771	+	Missense_Mutation	SNP	G	A	A	rs144938795		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16034771G>A	uc002nbu.2	-	7	805	c.769C>T	c.(769-771)CGC>TGC	p.R257C	CYP4F11_uc010eab.1_Missense_Mutation_p.R257C|CYP4F11_uc002nbt.2_Missense_Mutation_p.R257C	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	257					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1																		---	---	---	---
TPM4	7171	broad.mit.edu	37	19	16192765	16192765	+	Missense_Mutation	SNP	G	A	A	rs11539578		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16192765G>A	uc002ndj.2	+	2	416	c.175G>A	c.(175-177)GTT>ATT	p.V59I	TPM4_uc002ndi.2_Missense_Mutation_p.V95I|TPM4_uc002ndk.1_5'UTR	NM_003290	NP_003281	P67936	TPM4_HUMAN	tropomyosin 4 isoform 2	59	By similarity.			V -> F (in Ref. 5; AAH02827).	cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	soft_tissue(10)|haematopoietic_and_lymphoid_tissue(2)|breast(1)	13								T	ALK	ALCL								---	---	---	---
AP1M1	8907	broad.mit.edu	37	19	16314282	16314282	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16314282C>T	uc002ndu.2	+	2	228	c.55C>T	c.(55-57)CGG>TGG	p.R19W	AP1M1_uc002ndv.2_Missense_Mutation_p.R19W|AP1M1_uc010xpd.1_Missense_Mutation_p.R19W	NM_032493	NP_115882	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	19					cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			ovary(3)|breast(1)	4																		---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16976300	16976300	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16976300C>T	uc002ney.1	+	12	1573	c.1559C>T	c.(1558-1560)CCG>CTG	p.P520L	SIN3B_uc002nez.1_Missense_Mutation_p.P488L|SIN3B_uc010xpi.1_Missense_Mutation_p.P78L	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	520	Interaction with SDS3 and HDAC1 (By similarity).|Interaction with NCOR1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
SIN3B	23309	broad.mit.edu	37	19	16986963	16986963	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16986963G>A	uc002ney.1	+	16	2800	c.2786G>A	c.(2785-2787)CGC>CAC	p.R929H	SIN3B_uc002nez.1_Missense_Mutation_p.R897H|SIN3B_uc010xpi.1_Missense_Mutation_p.R487H|SIN3B_uc010eaj.1_5'Flank	NM_015260	NP_056075	O75182	SIN3B_HUMAN	SIN3 homolog B, transcription regulator	929					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---
CPAMD8	27151	broad.mit.edu	37	19	17036131	17036131	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17036131G>A	uc002nfb.2	-	26	3595	c.3563C>T	c.(3562-3564)CCG>CTG	p.P1188L		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain	1141						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13																		---	---	---	---
NR2F6	2063	broad.mit.edu	37	19	17343253	17343253	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17343253G>A	uc002nfq.2	-	4	1245	c.1123C>T	c.(1123-1125)CGC>TGC	p.R375C		NM_005234	NP_005225	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	375	Important for dimerization (By similarity).|Ligand-binding (By similarity).				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding				0																		---	---	---	---
NR2F6	2063	broad.mit.edu	37	19	17343353	17343353	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17343353C>T	uc002nfq.2	-	4	1145	c.1023G>A	c.(1021-1023)GCG>GCA	p.A341A		NM_005234	NP_005225	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	341	Important for dimerization (By similarity).|Ligand-binding (By similarity).				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding				0																		---	---	---	---
MAP1S	55201	broad.mit.edu	37	19	17844226	17844226	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17844226C>T	uc002nhe.1	+	6	3022	c.3013C>T	c.(3013-3015)CGT>TGT	p.R1005C	MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.R253C|MAP1S_uc010xpv.1_Missense_Mutation_p.R979C	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	BPY2 interacting protein 1	1005	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			central_nervous_system(1)	1																		---	---	---	---
FCHO1	23149	broad.mit.edu	37	19	17885236	17885236	+	Missense_Mutation	SNP	G	A	A	rs141405200		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:17885236G>A	uc010ebb.2	+	12	1058	c.869G>A	c.(868-870)CGC>CAC	p.R290H	FCHO1_uc002nhg.3_Missense_Mutation_p.R290H|FCHO1_uc002nhh.2_Missense_Mutation_p.R290H|FCHO1_uc010xpw.1_Missense_Mutation_p.R240H|FCHO1_uc010ebc.1_Missense_Mutation_p.R297H	NM_001161358	NP_001154830	O14526	FCHO1_HUMAN	FCH domain only 1 isoform b	290										breast(1)	1																		---	---	---	---
PIK3R2	5296	broad.mit.edu	37	19	18273783	18273783	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18273783C>T	uc002nia.1	+	10	1628	c.1116C>T	c.(1114-1116)GGC>GGT	p.G372G	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	372	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6																		---	---	---	---
KIAA1683	80726	broad.mit.edu	37	19	18378235	18378235	+	Missense_Mutation	SNP	C	T	T	rs111708098	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18378235C>T	uc002nin.2	-	3	331	c.115G>A	c.(115-117)GCT>ACT	p.A39T	KIAA1683_uc010ebn.2_Missense_Mutation_p.A39T|KIAA1683_uc010xqe.1_5'UTR	NM_025249	NP_079525	Q9H0B3	K1683_HUMAN	KIAA1683 isoform b	39						mitochondrion				ovary(2)	2																		---	---	---	---
LSM4	25804	broad.mit.edu	37	19	18420513	18420513	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18420513G>A	uc002niq.2	-	4	474	c.303C>T	c.(301-303)GGC>GGT	p.G101G		NM_012321	NP_036453	Q9Y4Z0	LSM4_HUMAN	U6 snRNA-associated Sm-like protein 4	101					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|mRNA processing|RNA splicing	cytosol|U6 snRNP	protein binding|RNA binding				0																		---	---	---	---
COMP	1311	broad.mit.edu	37	19	18897454	18897454	+	Missense_Mutation	SNP	C	T	T	rs144953891		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:18897454C>T	uc002nke.2	-	11	1178	c.1142G>A	c.(1141-1143)CGC>CAC	p.R381H	COMP_uc002nkd.2_Missense_Mutation_p.R348H|COMP_uc010xqj.1_Missense_Mutation_p.R328H	NM_000095	NP_000086	P49747	COMP_HUMAN	cartilage oligomeric matrix protein precursor	381	TSP type-3 4.				anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding				0																		---	---	---	---
HOMER3	9454	broad.mit.edu	37	19	19049618	19049618	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19049618C>T	uc002nku.2	-	2	743	c.90G>A	c.(88-90)GCG>GCA	p.A30A	HOMER3_uc010eby.2_Silent_p.A30A|HOMER3_uc010ebz.2_Silent_p.A30A|HOMER3_uc002nkw.2_Silent_p.A30A|HOMER3_uc002nkv.2_Silent_p.A30A	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homer, neuronal immediate early gene, 3 isoform	30	WH1.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding				0			Epithelial(12;0.0107)															---	---	---	---
SFRS14	10147	broad.mit.edu	37	19	19115211	19115211	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19115211C>T	uc002nkx.2	-	7	2841	c.2695G>A	c.(2695-2697)GAT>AAT	p.D899N	SFRS14_uc002nkz.1_Missense_Mutation_p.D913N|SFRS14_uc002nla.1_Missense_Mutation_p.D899N|SFRS14_uc002nlb.2_Missense_Mutation_p.D899N|SFRS14_uc010xqk.1_Missense_Mutation_p.D668N	NM_014884	NP_055699	Q8IX01	SUGP2_HUMAN	splicing factor, arginine/serine-rich 14	899	Asp/Glu-rich.				mRNA processing|RNA splicing	nucleus	RNA binding				0			OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161)															---	---	---	---
SF4	57794	broad.mit.edu	37	19	19390106	19390106	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19390106C>T	uc002nmh.2	-	10	1446	c.1444G>A	c.(1444-1446)GGC>AGC	p.G482S	SF4_uc002nmf.2_Missense_Mutation_p.G32S|SF4_uc002nmg.2_Missense_Mutation_p.G32S|SF4_uc002nmi.2_Missense_Mutation_p.G272S|SF4_uc002nmj.2_Missense_Mutation_p.G272S|SF4_uc002nme.2_Missense_Mutation_p.G32S	NM_172231	NP_757386	Q8IWZ8	SUGP1_HUMAN	splicing factor 4	482					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding				0																		---	---	---	---
CILP2	148113	broad.mit.edu	37	19	19655452	19655452	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19655452G>A	uc002nmv.3	+	8	2183	c.2098G>A	c.(2098-2100)GAG>AAG	p.E700K	CILP2_uc002nmw.3_Missense_Mutation_p.E706K	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	700						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			ovary(1)	1																		---	---	---	---
ZNF257	113835	broad.mit.edu	37	19	22271354	22271354	+	Missense_Mutation	SNP	C	T	T	rs17853619		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22271354C>T	uc010ecx.2	+	4	971	c.802C>T	c.(802-804)CGG>TGG	p.R268W	ZNF257_uc010ecy.2_Missense_Mutation_p.R236W	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	268	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_lung(12;0.0961)|Lung NSC(12;0.103)																---	---	---	---
DPY19L3	147991	broad.mit.edu	37	19	32930729	32930729	+	Silent	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:32930729G>C	uc002ntg.2	+	8	944	c.768G>C	c.(766-768)CTG>CTC	p.L256L	DPY19L3_uc002nth.1_Silent_p.L256L|DPY19L3_uc002nti.1_RNA	NM_207325	NP_997208	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3	256	Helical; (Potential).					integral to membrane				ovary(4)	4	Esophageal squamous(110;0.162)																	---	---	---	---
ANKRD27	84079	broad.mit.edu	37	19	33098606	33098606	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33098606C>T	uc002ntn.1	-	23	2464	c.2308G>A	c.(2308-2310)GCA>ACA	p.A770T		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	770	ANK 8.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			ovary(2)|skin(2)|pancreas(1)	5	Esophageal squamous(110;0.137)																	---	---	---	---
GPI	2821	broad.mit.edu	37	19	34857702	34857702	+	Silent	SNP	C	T	T	rs150838903		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:34857702C>T	uc002nvg.1	+	3	331	c.228C>T	c.(226-228)GGC>GGT	p.G76G	GPI_uc002nvf.2_Silent_p.G115G|GPI_uc010xrv.1_Silent_p.G115G|GPI_uc010xrw.1_Silent_p.G76G|GPI_uc010edl.1_Silent_p.G76G|GPI_uc002nvh.1_Silent_p.G380G	NM_000175	NP_000166	P06744	G6PI_HUMAN	glucose phosphate isomerase	76					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			ovary(1)|kidney(1)	2	Esophageal squamous(110;0.162)																	---	---	---	---
SCGBL	284402	broad.mit.edu	37	19	35085142	35085142	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:35085142T>C	uc002nvn.2	-	2	206	c.184A>G	c.(184-186)AAT>GAT	p.N62D		NM_001025591	NP_001020762	Q4G0G5	SCGBL_HUMAN	secretoglobin-like precursor	62						extracellular region	binding				0																		---	---	---	---
ZBTB32	27033	broad.mit.edu	37	19	36206418	36206418	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36206418C>T	uc002oay.2	+						ZBTB32_uc002oaz.2_Intron|MLL4_uc010eei.2_5'Flank	NM_014383	NP_055198			zinc finger and BTB domain containing 32						DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			ovary(1)|skin(1)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
PRODH2	58510	broad.mit.edu	37	19	36291029	36291029	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36291029C>T	uc002obx.1	-	11	1540	c.1522G>A	c.(1522-1524)GTG>ATG	p.V508M	uc002obw.1_5'Flank	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	508					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
PRODH2	58510	broad.mit.edu	37	19	36297695	36297695	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36297695G>A	uc002obx.1	-	7	962	c.944C>T	c.(943-945)GCG>GTG	p.A315V		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	kidney and liver proline oxidase 1	315					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			ovary(2)	2	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
APLP1	333	broad.mit.edu	37	19	36362259	36362259	+	Intron	SNP	C	T	T	rs139816810	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36362259C>T	uc002oce.2	+						APLP1_uc010xsz.1_Intron|APLP1_uc002ocf.2_Intron|APLP1_uc002ocg.2_Intron|APLP1_uc010xta.1_Intron	NM_005166	NP_005157			amyloid precursor-like protein 1 isoform 2						apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			ovary(2)	2	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---
CLIP3	25999	broad.mit.edu	37	19	36510207	36510207	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36510207G>A	uc010eeq.1	-	7	1202	c.920C>T	c.(919-921)ACG>ATG	p.T307M	uc002ocy.2_Silent_p.P40P|CLIP3_uc002ocz.1_Missense_Mutation_p.T307M	NM_015526	NP_056341	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	307					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36594488	36594488	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36594488C>T	uc002odc.2	+	30	3834	c.3743C>T	c.(3742-3744)TCG>TTG	p.S1248L	WDR62_uc002odd.2_Missense_Mutation_p.S1253L	NM_173636	NP_775907	O43379	WDR62_HUMAN	WD repeat domain 62 isoform 2	1248					cerebral cortex development	nucleus					0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---
ZFP82	284406	broad.mit.edu	37	19	36896513	36896513	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36896513T>G	uc002ody.1	-	4	433	c.198A>C	c.(196-198)AAA>AAC	p.K66N		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	zinc finger protein 82 homolog	66	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---
CATSPERG	57828	broad.mit.edu	37	19	38861304	38861304	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38861304G>A	uc002oih.3	+	29	3439	c.3352G>A	c.(3352-3354)GCC>ACC	p.A1118T	CATSPERG_uc002oig.3_Missense_Mutation_p.A1078T|CATSPERG_uc002oif.3_Missense_Mutation_p.A758T|CATSPERG_uc010efw.2_RNA	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	cation channel, sperm-associated, gamma	1118	Cytoplasmic (Potential).				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				ovary(1)|skin(1)	2																		---	---	---	---
SAMD4B	55095	broad.mit.edu	37	19	39860699	39860699	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39860699G>A	uc002olb.2	+	6	1636	c.601G>A	c.(601-603)GTG>ATG	p.V201M	SAMD4B_uc002ola.2_Missense_Mutation_p.V201M	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	201							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)															---	---	---	---
SUPT5H	6829	broad.mit.edu	37	19	39962263	39962263	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39962263C>T	uc002olo.3	+	20	2022	c.1843C>T	c.(1843-1845)CGC>TGC	p.R615C	SUPT5H_uc002olp.3_Missense_Mutation_p.R615C|SUPT5H_uc002olq.3_Missense_Mutation_p.R611C|SUPT5H_uc002oln.3_Missense_Mutation_p.R615C|SUPT5H_uc002olr.3_Missense_Mutation_p.R615C|SUPT5H_uc002ols.1_Missense_Mutation_p.R238C|SUPT5H_uc010egp.1_5'UTR	NM_001111020	NP_001104490	O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog isoform a	615	KOW 4.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			ovary(3)|pancreas(1)	4	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)															---	---	---	---
TIMM50	92609	broad.mit.edu	37	19	39973790	39973790	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39973790G>A	uc002olu.1	+	4	749	c.616G>A	c.(616-618)GAC>AAC	p.D206N	TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_5'Flank	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50	103	Mitochondrial intermembrane (Potential).				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			ovary(1)	1	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)															---	---	---	---
FCGBP	8857	broad.mit.edu	37	19	40368809	40368809	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40368809G>A	uc002omp.3	-	28	12547	c.12539C>T	c.(12538-12540)GCA>GTA	p.A4180V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein precursor	4180	VWFD 10.					extracellular region	protein binding			ovary(4)|skin(4)|central_nervous_system(1)	9	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)															---	---	---	---
ZNF546	339327	broad.mit.edu	37	19	40520374	40520374	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40520374C>T	uc002oms.2	+	7	1453	c.1197C>T	c.(1195-1197)TAC>TAT	p.Y399Y	ZNF546_uc002omt.2_Silent_p.Y373Y	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	zinc finger protein 546	399	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|breast(1)|skin(1)	3	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)																	---	---	---	---
PLD3	23646	broad.mit.edu	37	19	40882551	40882551	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:40882551C>T	uc002onm.3	+	11	1453	c.1055C>T	c.(1054-1056)GCC>GTC	p.A352V	PLD3_uc002onj.3_Missense_Mutation_p.A352V|PLD3_uc002onk.3_Missense_Mutation_p.A352V|PLD3_uc002onl.3_Missense_Mutation_p.A352V|PLD3_uc002onn.2_Missense_Mutation_p.A352V	NM_001031696	NP_001026866	Q8IV08	PLD3_HUMAN	phospholipase D3	352	Lumenal (Potential).				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			skin(2)|ovary(1)	3			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)															---	---	---	---
CEACAM21	90273	broad.mit.edu	37	19	42091829	42091829	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42091829G>A	uc002ore.3	+	5	927	c.831G>A	c.(829-831)CAG>CAA	p.Q277Q	CEACAM21_uc002orc.1_RNA|CEACAM21_uc002ord.1_RNA|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Silent_p.Q276Q	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion	277	Cytoplasmic (Potential).					integral to membrane				ovary(1)	1																		---	---	---	---
ATP1A3	478	broad.mit.edu	37	19	42482414	42482414	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42482414G>A	uc002osg.2	-	13	1849	c.1695C>T	c.(1693-1695)GAC>GAT	p.D565D	ATP1A3_uc010xwf.1_Silent_p.D576D|ATP1A3_uc010xwg.1_Silent_p.D535D|ATP1A3_uc010xwh.1_Silent_p.D578D|ATP1A3_uc002osh.2_Silent_p.D565D	NM_152296	NP_689509	P13637	AT1A3_HUMAN	Na+/K+ -ATPase alpha 3 subunit	565	Cytoplasmic (Potential).				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			ovary(1)|pancreas(1)	2																		---	---	---	---
GRIK5	2901	broad.mit.edu	37	19	42510873	42510873	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42510873G>A	uc002osj.1	-	15	1996	c.1961C>T	c.(1960-1962)TCG>TTG	p.S654L	GRIK5_uc002osi.1_Missense_Mutation_p.S226L	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	glutamate receptor KA2 precursor	654	Extracellular (Potential).					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity				0		Prostate(69;0.059)			L-Glutamic Acid(DB00142)													---	---	---	---
TMEM145	284339	broad.mit.edu	37	19	42818487	42818487	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42818487C>T	uc002otk.1	+	2	236	c.184C>T	c.(184-186)CGC>TGC	p.R62C		NM_173633	NP_775904	Q8NBT3	TM145_HUMAN	transmembrane protein 145	62						integral to membrane					0		Prostate(69;0.00682)																---	---	---	---
PSG3	5671	broad.mit.edu	37	19	43244496	43244496	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43244496G>A	uc002oue.2	-	1	173	c.41C>T	c.(40-42)ACC>ATC	p.T14I	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG3_uc010eil.2_Missense_Mutation_p.T36I	NM_021016	NP_066296	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	14					defense response|female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)																---	---	---	---
PSG6	5675	broad.mit.edu	37	19	43411249	43411249	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43411249C>T	uc002ovj.1	-	5	1117	c.1065G>A	c.(1063-1065)GCG>GCA	p.A355A	PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Silent_p.A362A|PSG6_uc002ovi.2_Silent_p.A356A|PSG6_uc010xwk.1_Silent_p.A195A|PSG11_uc002ovk.1_Silent_p.A354A|PSG6_uc002ove.1_Silent_p.A145A|PSG6_uc002ovf.1_Silent_p.A262A|PSG6_uc002ovg.1_Silent_p.A355A	NM_002782	NP_002773	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6 isoform	355	Ig-like C2-type 3.				female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00899)																---	---	---	---
ZNF230	7773	broad.mit.edu	37	19	44514757	44514757	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44514757T>C	uc002oyb.1	+	5	817	c.566T>C	c.(565-567)GTT>GCT	p.V189A		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	189	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.0352)																---	---	---	---
ZNF223	7766	broad.mit.edu	37	19	44570344	44570344	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44570344C>T	uc002oyf.1	+	5	616	c.363C>T	c.(361-363)AGC>AGT	p.S121S	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)																---	---	---	---
ZNF223	7766	broad.mit.edu	37	19	44571192	44571192	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44571192A>G	uc002oyf.1	+	5	1464	c.1211A>G	c.(1210-1212)GAC>GGC	p.D404G	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	404	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)																---	---	---	---
CLPTM1	1209	broad.mit.edu	37	19	45480725	45480725	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45480725G>A	uc002pai.2	+						CLPTM1_uc010ejv.1_Intron|CLPTM1_uc010xxf.1_Intron|CLPTM1_uc010xxg.1_Intron	NM_001294	NP_001285			cleft lip and palate associated transmembrane						cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				ovary(1)	1		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)														---	---	---	---
MARK4	57787	broad.mit.edu	37	19	45766418	45766418	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45766418G>A	uc002pbb.1	+	3	305	c.300G>A	c.(298-300)CTG>CTA	p.L100L	MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.L100L|MARK4_uc002pbc.1_5'Flank			Q96L34	MARK4_HUMAN	RecName: Full=MAP/microtubule affinity-regulating kinase 4;          EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1;	100	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			central_nervous_system(2)|large_intestine(1)	3		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)														---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46307526	46307526	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46307526T>G	uc002pdm.2	-	3	1780	c.1637A>C	c.(1636-1638)CAG>CCG	p.Q546P	RSPH6A_uc002pdl.2_Missense_Mutation_p.Q282P	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	radial spokehead-like 1	546	Glu-rich.					intracellular				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
NANOS2	339345	broad.mit.edu	37	19	46417555	46417555	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46417555C>T	uc002pdu.2	-	1	482	c.397G>A	c.(397-399)GGA>AGA	p.G133R		NM_001029861	NP_001025032	P60321	NANO2_HUMAN	nanos homolog 2	133					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding				0		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)														---	---	---	---
CCDC61	729440	broad.mit.edu	37	19	46498681	46498681	+	Splice_Site	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46498681A>G	uc002pdw.2	+	2	81	c.81_splice	c.e2-2	p.R27_splice		NM_001080402	NP_001073871			coiled-coil domain containing 61											ovary(1)	1		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)														---	---	---	---
CALM3	808	broad.mit.edu	37	19	47111779	47111779	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47111779G>T	uc002pew.2	+	4	399	c.219G>T	c.(217-219)ATG>ATT	p.M73I	CALM3_uc010ekp.2_Missense_Mutation_p.M37I|CALM3_uc010xyc.1_Missense_Mutation_p.M73I	NM_005184	NP_005175	P62158	CALM_HUMAN	calmodulin 3	73	EF-hand 2.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			ovary(1)	1		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)													---	---	---	---
STRN4	29888	broad.mit.edu	37	19	47228739	47228739	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47228739G>A	uc002pfl.2	-	10	1448	c.1415C>T	c.(1414-1416)ACG>ATG	p.T472M	STRN4_uc002pfm.2_Missense_Mutation_p.T479M|STRN4_uc010xyf.1_RNA|STRN4_uc010xyg.1_RNA	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN	zinedin isoform 1	472	WD 1.					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)														---	---	---	---
ZC3H4	23211	broad.mit.edu	37	19	47570247	47570247	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47570247C>T	uc002pga.3	-	15	3316	c.3278G>A	c.(3277-3279)CGG>CAG	p.R1093Q	ZC3H4_uc002pgb.1_RNA	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1093							nucleic acid binding|zinc ion binding			skin(4)|ovary(2)	6		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)														---	---	---	---
SLC8A2	6543	broad.mit.edu	37	19	47969281	47969281	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47969281G>A	uc002pgx.2	-	2	658	c.380C>T	c.(379-381)ACG>ATG	p.T127M	SLC8A2_uc010xyq.1_Intron|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Missense_Mutation_p.T127M	NM_015063	NP_055878	Q9UPR5	NAC2_HUMAN	solute carrier family 8 member 2 precursor	127	Cytoplasmic (Potential).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			skin(3)|ovary(1)	4		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)														---	---	---	---
SULT2B1	6820	broad.mit.edu	37	19	49100183	49100183	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49100183G>A	uc002pjl.2	+						SULT2B1_uc002pjm.2_Intron	NM_177973	NP_814444			sulfotransferase family, cytosolic, 2B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			skin(1)	1		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)														---	---	---	---
NTN5	126147	broad.mit.edu	37	19	49167960	49167960	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49167960G>A	uc002pkb.2	-	3	792	c.696C>T	c.(694-696)GGC>GGT	p.G232G	SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|NTN5_uc002pkc.2_Silent_p.G232G	NM_145807	NP_665806	Q8WTR8	NET5_HUMAN	netrin 5 precursor	232	Laminin EGF-like 2.					extracellular region				large_intestine(1)|pancreas(1)	2																		---	---	---	---
TBC1D17	79735	broad.mit.edu	37	19	50388000	50388000	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50388000C>T	uc002pqo.2	+	13	1581	c.1429C>T	c.(1429-1431)CTC>TTC	p.L477F	TBC1D17_uc010ybg.1_Missense_Mutation_p.L444F|TBC1D17_uc002pqp.2_Missense_Mutation_p.L128F|TBC1D17_uc002pqq.1_RNA|TBC1D17_uc002pqr.2_Missense_Mutation_p.L128F|TBC1D17_uc002pqs.2_RNA	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	477	Rab-GAP TBC.					intracellular	Rab GTPase activator activity				0		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)														---	---	---	---
IL4I1	259307	broad.mit.edu	37	19	50397516	50397516	+	Intron	SNP	G	A	A	rs73934059		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50397516G>A	uc002pqt.1	-						IL4I1_uc002pqv.1_Intron|IL4I1_uc010eno.1_Intron|IL4I1_uc002pqw.1_Intron|IL4I1_uc002pqu.1_Intron	NM_152899	NP_690863			interleukin 4 induced 1 isoform 1 precursor							lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)														---	---	---	---
IL4I1	259307	broad.mit.edu	37	19	50397580	50397580	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50397580C>T	uc002pqt.1	-	5	590	c.512G>A	c.(511-513)CGT>CAT	p.R171H	IL4I1_uc002pqv.1_Missense_Mutation_p.R180H|IL4I1_uc010eno.1_Missense_Mutation_p.R179H|IL4I1_uc002pqw.1_Missense_Mutation_p.R179H|IL4I1_uc002pqu.1_Missense_Mutation_p.R193H	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1 isoform 1 precursor	171						lysosome	L-amino-acid oxidase activity			lung(1)|ovary(1)|prostate(1)	3		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)														---	---	---	---
ATF5	22809	broad.mit.edu	37	19	50436176	50436176	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50436176C>T	uc010enq.1	+	4	1243	c.676C>T	c.(676-678)CGC>TGC	p.R226C	ATF5_uc002prd.2_Missense_Mutation_p.R226C	NM_012068	NP_036200	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	226	Basic motif.				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			skin(2)	2		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)														---	---	---	---
ZNF473	25888	broad.mit.edu	37	19	50548669	50548669	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50548669C>T	uc002prn.2	+	5	1206	c.969C>T	c.(967-969)AAC>AAT	p.N323N	ZNF473_uc002prm.2_Silent_p.N323N|ZNF473_uc010ybo.1_Silent_p.N311N	NM_001006656	NP_001006657	Q8WTR7	ZN473_HUMAN	zinc finger protein 473	323	Interaction with SLBP/pre-mRNA complex.|C2H2-type 3.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			ovary(1)|central_nervous_system(1)	2		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)														---	---	---	---
C19orf41	126123	broad.mit.edu	37	19	50666245	50666245	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50666245C>T	uc002prp.1	-	1	294	c.207G>A	c.(205-207)GCG>GCA	p.A69A		NM_152358	NP_689571	Q6UXV1	IZUM2_HUMAN	hypothetical protein LOC126123 precursor	69	Extracellular (Potential).					integral to membrane					0		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052)														---	---	---	---
MYBPC2	4606	broad.mit.edu	37	19	50957548	50957548	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:50957548C>T	uc002psf.2	+	18	1987	c.1936C>T	c.(1936-1938)CGC>TGC	p.R646C		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	646	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)														---	---	---	---
C19orf75	284369	broad.mit.edu	37	19	51767344	51767344	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51767344G>A	uc002pwb.1	+	2	399	c.18G>A	c.(16-18)CAG>CAA	p.Q6Q	C19orf75_uc010eov.1_RNA|C19orf75_uc010ycw.1_Silent_p.Q6Q	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	hypothetical protein LOC284369	6						integral to membrane				ovary(1)|pancreas(1)	2																		---	---	---	---
ZNF836	162962	broad.mit.edu	37	19	52659206	52659206	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:52659206G>A	uc010ydi.1	-	5	2104	c.1730C>T	c.(1729-1731)ACG>ATG	p.T577M	ZNF836_uc010ydj.1_Missense_Mutation_p.T577M	NM_001102657	NP_001096127	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---
ZNF415	55786	broad.mit.edu	37	19	53612860	53612860	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53612860A>G	uc002qax.2	-	7	931	c.582T>C	c.(580-582)CAT>CAC	p.H194H	ZNF415_uc002qat.2_Silent_p.H158H|ZNF415_uc002qaw.2_Silent_p.H146H|ZNF415_uc010yds.1_Silent_p.H146H|ZNF415_uc010ydt.1_Silent_p.H146H|ZNF415_uc002qau.2_Silent_p.H133H|ZNF415_uc002qav.2_Silent_p.H158H|ZNF415_uc002qba.2_5'UTR|ZNF415_uc002qay.2_Silent_p.H133H|ZNF415_uc002qaz.2_Silent_p.H194H	NR_028343		Q09FC8	ZN415_HUMAN	RecName: Full=Zinc finger protein 415;	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			ovary(1)	1				GBM - Glioblastoma multiforme(134;0.0191)														---	---	---	---
ZNF347	84671	broad.mit.edu	37	19	53645180	53645180	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53645180G>A	uc002qbb.1	-	5	970	c.901C>T	c.(901-903)CGT>TGT	p.R301C	ZNF347_uc010eql.1_Missense_Mutation_p.R302C|ZNF347_uc002qbc.1_Missense_Mutation_p.R302C	NM_032584	NP_115973	Q96SE7	ZN347_HUMAN	zinc finger protein 347	301	C2H2-type 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				GBM - Glioblastoma multiforme(134;0.0179)														---	---	---	---
ZNF813	126017	broad.mit.edu	37	19	53994312	53994312	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53994312T>C	uc002qbu.2	+	4	954	c.826T>C	c.(826-828)TGT>CGT	p.C276R	ZNF813_uc010eqq.1_Intron	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	276	C2H2-type 3.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)														---	---	---	---
TFPT	29844	broad.mit.edu	37	19	54611543	54611543	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54611543G>A	uc010yej.1	-	5	838	c.432C>T	c.(430-432)GGC>GGT	p.G144G		NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner	144					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding				0	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)							T	TCF3	pre-B ALL								---	---	---	---
CNOT3	4849	broad.mit.edu	37	19	54646870	54646870	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54646870G>A	uc002qdj.1	+	3	352	c.41G>A	c.(40-42)TGC>TAC	p.C14Y	CNOT3_uc010yel.1_Missense_Mutation_p.C14Y|CNOT3_uc002qdi.2_5'UTR|CNOT3_uc002qdk.1_Missense_Mutation_p.C14Y|CNOT3_uc010ere.1_5'Flank	NM_014516	NP_055331	O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	14					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)																	---	---	---	---
LILRB2	10288	broad.mit.edu	37	19	54783463	54783463	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54783463G>T	uc002qfb.2	-	5	661	c.395C>A	c.(394-396)CCT>CAT	p.P132H	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.P132H|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.P132H|LILRB2_uc010yet.1_Missense_Mutation_p.P16H|LILRB2_uc010yeu.1_RNA	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	132	Extracellular (Potential).|Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			skin(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---
LILRA5	353514	broad.mit.edu	37	19	54822684	54822684	+	Nonsense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54822684C>A	uc002qfe.2	-	5	832	c.712G>T	c.(712-714)GGA>TGA	p.G238*	LILRA5_uc002qff.2_Nonsense_Mutation_p.G226*|LILRA5_uc010yev.1_Nonsense_Mutation_p.G238*|LILRA5_uc010yew.1_Nonsense_Mutation_p.G226*|LILRA5_uc002qfh.1_Missense_Mutation_p.G226C|LILRA5_uc002qfg.1_Missense_Mutation_p.G238C	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor subfamily	238	Extracellular (Potential).				innate immune response	extracellular region|integral to membrane	receptor activity			upper_aerodigestive_tract(1)	1	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---
LAIR1	3903	broad.mit.edu	37	19	54866902	54866902	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54866902G>A	uc002qfk.1	-	10	1149	c.839C>T	c.(838-840)ACG>ATG	p.T280M	LAIR1_uc002qfl.1_Missense_Mutation_p.T263M|LAIR1_uc002qfm.1_Missense_Mutation_p.T279M|LAIR1_uc002qfn.1_Missense_Mutation_p.T262M|LAIR1_uc010yex.1_Missense_Mutation_p.T273M|LAIR1_uc002qfo.2_Missense_Mutation_p.T262M	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like	280	Cytoplasmic (Potential).|ITIM motif 2.					integral to membrane|plasma membrane	protein binding|receptor activity			ovary(4)	4	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)														---	---	---	---
TNNT1	7138	broad.mit.edu	37	19	55652654	55652654	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55652654C>T	uc002qjb.3	-	8	298	c.209G>A	c.(208-210)CGC>CAC	p.R70H	TNNT1_uc002qiz.3_5'UTR|TNNT1_uc002qja.3_5'UTR|TNNT1_uc002qjc.3_Missense_Mutation_p.R70H|TNNT1_uc002qje.3_Missense_Mutation_p.R59H|TNNT1_uc002qjd.3_Missense_Mutation_p.R59H|TNNT1_uc002qjf.2_Missense_Mutation_p.R66H	NM_003283	NP_003274	P13805	TNNT1_HUMAN	troponin T1, skeletal, slow isoform a	70					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)												OREG0025677	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
HSPBP1	23640	broad.mit.edu	37	19	55785912	55785912	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55785912G>A	uc002qjx.2	-	3	742	c.632C>T	c.(631-633)GCG>GTG	p.A211V	HSPBP1_uc002qjy.2_Missense_Mutation_p.A165V|HSPBP1_uc002qkb.2_Missense_Mutation_p.A165V|HSPBP1_uc002qka.2_Missense_Mutation_p.A165V|HSPBP1_uc002qkd.2_Missense_Mutation_p.A165V|HSPBP1_uc002qkc.2_Missense_Mutation_p.A165V	NM_012267	NP_036399	Q9NZL4	HPBP1_HUMAN	hsp70-interacting protein	168	ARM 1.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding				0			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)														---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55823276	55823276	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55823276C>T	uc002qkg.2	+						BRSK1_uc002qkf.2_Intron|BRSK1_uc002qkh.2_Intron	NM_032430	NP_115806			BR serine/threonine kinase 1						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)														---	---	---	---
EPN1	29924	broad.mit.edu	37	19	56189998	56189998	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56189998C>T	uc002qlw.2	+	2	347	c.5C>T	c.(4-6)TCG>TTG	p.S2L	EPN1_uc002qlv.2_Missense_Mutation_p.S2L|EPN1_uc010etd.2_Missense_Mutation_p.S2L|EPN1_uc002qlx.2_Missense_Mutation_p.S113L	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN	epsin 1 isoform b	2					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding				0		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)														---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56443465	56443465	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56443465A>G	uc010ygg.1	-	1	238	c.213T>C	c.(211-213)CTT>CTC	p.L71L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	71	DAPIN.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)														---	---	---	---
ZNF582	147948	broad.mit.edu	37	19	56901845	56901845	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56901845G>A	uc002qmz.1	-	3	194	c.35C>T	c.(34-36)GCC>GTC	p.A12V	ZNF582_uc002qmy.2_Missense_Mutation_p.A43V	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	zinc finger protein 582	12	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)|large_intestine(1)	4		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)														---	---	---	---
ZNF667	63934	broad.mit.edu	37	19	56953616	56953616	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56953616C>T	uc002qnd.2	-	5	910	c.748G>A	c.(748-750)GGG>AGG	p.G250R	ZNF667_uc010etl.2_Missense_Mutation_p.G32R|ZNF667_uc002qne.2_Missense_Mutation_p.G250R|ZNF667_uc010etm.2_Missense_Mutation_p.G193R	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	zinc finger protein 667	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)														---	---	---	---
ZNF71	58491	broad.mit.edu	37	19	57133303	57133303	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57133303C>T	uc002qnm.3	+	3	886	c.648C>T	c.(646-648)TGC>TGT	p.C216C		NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	216	C2H2-type 4.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)														---	---	---	---
ZNF772	400720	broad.mit.edu	37	19	57984945	57984945	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57984945G>A	uc002qot.2	-	5	1428	c.1167C>T	c.(1165-1167)CAC>CAT	p.H389H	ZNF547_uc002qpm.3_Intron|ZNF772_uc010ygy.1_Silent_p.H348H|ZNF772_uc010ygz.1_Silent_p.H277H|ZNF772_uc010yha.1_Silent_p.H335H|ZNF772_uc002qou.2_Silent_p.H277H	NM_001024596	NP_001019767	Q68DY9	ZN772_HUMAN	zinc finger protein 772 isoform 1	389	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)														---	---	---	---
ZNF773	374928	broad.mit.edu	37	19	58016049	58016049	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58016049G>A	uc002qox.2	+	2	198	c.58G>A	c.(58-60)GTG>ATG	p.V20M	ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Missense_Mutation_p.V19M|ZNF773_uc002qoz.2_RNA	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	zinc finger protein 773	20	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)														---	---	---	---
ZNF587	84914	broad.mit.edu	37	19	58371174	58371174	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58371174C>T	uc002qql.2	+	3	1532	c.1394C>T	c.(1393-1395)GCG>GTG	p.A465V	ZNF587_uc002qqb.2_Missense_Mutation_p.A422V|ZNF587_uc010yhh.1_Missense_Mutation_p.A422V|ZNF587_uc002qqi.1_Missense_Mutation_p.A422V|ZNF587_uc002qqj.1_RNA|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.1_Missense_Mutation_p.A464V	NM_032828	NP_116217	Q96SQ5	ZN587_HUMAN	zinc finger protein 587	465	C2H2-type 10.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)														---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58564970	58564970	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58564970C>T	uc002qrc.1	+	6	1025	c.778C>T	c.(778-780)CGC>TGC	p.R260C		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	260					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)														---	---	---	---
ZNF135	7694	broad.mit.edu	37	19	58574815	58574815	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58574815A>G	uc010yhq.1	+	4	258	c.162A>G	c.(160-162)GGA>GGG	p.G54G	ZNF135_uc002qre.2_Silent_p.G54G|ZNF135_uc002qrd.1_Silent_p.G12G|ZNF135_uc002qrf.2_Silent_p.G12G|ZNF135_uc002qrg.2_Silent_p.G12G|ZNF135_uc010yhr.1_5'UTR	NM_003436	NP_003427	B4DHH9	B4DHH9_HUMAN	zinc finger protein 135 isoform 2	54					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)														---	---	---	---
ZNF584	201514	broad.mit.edu	37	19	58921369	58921369	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58921369C>T	uc002qsp.2	+	2	532	c.80C>T	c.(79-81)TCC>TTC	p.S27F	ZNF584_uc010yia.1_Intron|ZNF584_uc002qsr.2_Intron|ZNF584_uc010yib.1_Missense_Mutation_p.S19F	NM_173548	NP_775819	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)														---	---	---	---
SNRPB	6628	broad.mit.edu	37	20	2446420	2446420	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2446420G>A	uc002wfz.1	-	3	364	c.201C>T	c.(199-201)CTC>CTT	p.L67L	SNRPB_uc002wga.1_Silent_p.L67L|SNRPB_uc010zpv.1_5'UTR|SNRPB_uc002wgb.2_Silent_p.L67L|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptide B/B'	67					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding			ovary(1)	1																		---	---	---	---
NOP56	10528	broad.mit.edu	37	20	2636396	2636396	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2636396C>T	uc002wgh.2	+						NOP56_uc010zpy.1_Intron|NOP56_uc002wgi.2_Intron|NOP56_uc002wgm.1_Intron|SNORD86_uc010gaq.1_5'Flank|SNORD56_uc010gar.2_5'Flank|SNORD57_uc002wgo.1_5'Flank	NM_006392	NP_006383			nucleolar protein 5A						rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			ovary(1)|pancreas(1)	2																		---	---	---	---
CPXM1	56265	broad.mit.edu	37	20	2774829	2774829	+	3'UTR	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2774829G>A	uc002wgu.2	-	14					CPXM1_uc010gas.2_3'UTR	NM_019609	NP_062555			carboxypeptidase X, member 1 precursor						cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			ovary(2)|skin(2)	4																		---	---	---	---
FAM113A	64773	broad.mit.edu	37	20	2818988	2818988	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2818988C>T	uc002wgz.1	-	6	1228	c.731G>A	c.(730-732)CGG>CAG	p.R244Q	FAM113A_uc002whb.1_Missense_Mutation_p.R95Q|FAM113A_uc002wha.1_Missense_Mutation_p.R95Q|FAM113A_uc010zqa.1_Missense_Mutation_p.R91Q|FAM113A_uc002whc.1_Missense_Mutation_p.R193Q|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	hypothetical protein LOC64773	244	His-rich.						hydrolase activity|protein binding			ovary(2)	2																		---	---	---	---
ADAM33	80332	broad.mit.edu	37	20	3649607	3649607	+	3'UTR	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3649607C>T	uc002wit.2	-	22					ADAM33_uc002wiq.1_3'UTR|ADAM33_uc002wir.1_3'UTR|ADAM33_uc002wis.2_3'UTR|ADAM33_uc002wiu.2_3'UTR	NM_025220	NP_079496			ADAM metallopeptidase domain 33 isoform alpha						proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			large_intestine(2)|ovary(1)|skin(1)	4																		---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3672109	3672109	+	Missense_Mutation	SNP	G	A	A	rs147117268		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3672109G>A	uc002wja.2	-	17	4469	c.4469C>T	c.(4468-4470)GCG>GTG	p.A1490V	SIGLEC1_uc002wjb.1_Missense_Mutation_p.A129V|SIGLEC1_uc002wiz.3_Missense_Mutation_p.A1490V	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	1490	Ig-like C2-type 15.|Extracellular (Potential).				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.A1490A(1)		pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10																		---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3683941	3683941	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3683941C>T	uc002wja.2	-	5	1131	c.1131G>A	c.(1129-1131)CTG>CTA	p.L377L	SIGLEC1_uc002wiz.3_Silent_p.L377L|SIGLEC1_uc002wjc.2_Silent_p.L288L	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	sialoadhesin precursor	377	Extracellular (Potential).|Ig-like C2-type 3.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10																		---	---	---	---
SLC23A2	9962	broad.mit.edu	37	20	4864313	4864313	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:4864313C>T	uc002wlg.1	-	9	1174	c.799G>A	c.(799-801)GGG>AGG	p.G267R	SLC23A2_uc010zqr.1_Intron|SLC23A2_uc002wlh.1_Missense_Mutation_p.G267R|SLC23A2_uc002wli.2_Missense_Mutation_p.G266R	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (nucleobase	267	Helical; (Potential).				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			ovary(2)	2																		---	---	---	---
LRRN4	164312	broad.mit.edu	37	20	6022502	6022502	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:6022502G>A	uc002wmo.2	-	5	1613	c.1389C>T	c.(1387-1389)CCC>CCT	p.P463P		NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4 precursor	463	Extracellular (Potential).					integral to membrane				skin(3)	3																		---	---	---	---
ANKRD5	63926	broad.mit.edu	37	20	10025143	10025143	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:10025143C>T	uc002wno.2	+	5	1041	c.648C>T	c.(646-648)AAC>AAT	p.N216N	uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Silent_p.N216N|ANKRD5_uc010gbz.2_Silent_p.N27N	NM_022096	NP_071379	Q9NU02	ANKR5_HUMAN	ankyrin repeat domain protein 5	216							calcium ion binding			ovary(1)|breast(1)	2																		---	---	---	---
BTBD3	22903	broad.mit.edu	37	20	11900496	11900496	+	Intron	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:11900496T>C	uc002wnz.2	+						BTBD3_uc002wny.2_Intron|BTBD3_uc002woa.2_Intron|BTBD3_uc010zrf.1_Intron|BTBD3_uc010zrg.1_Intron|BTBD3_uc010zrh.1_Intron	NM_014962	NP_055777			BTB/POZ domain containing protein 3 isoform a											ovary(2)|central_nervous_system(1)	3																		---	---	---	---
SPTLC3	55304	broad.mit.edu	37	20	13052982	13052982	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13052982C>T	uc002wod.1	+	3	671	c.382C>T	c.(382-384)CGG>TGG	p.R128W		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base	128					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups				0					Pyridoxal Phosphate(DB00114)													---	---	---	---
ISM1	140862	broad.mit.edu	37	20	13269281	13269281	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13269281C>T	uc010gce.1	+	4	744	c.738C>T	c.(736-738)TAC>TAT	p.Y246Y	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	isthmin 1 homolog precursor	246	TSP type-1.					extracellular region					0																		---	---	---	---
C20orf7	79133	broad.mit.edu	37	20	13797201	13797201	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13797201C>T	uc002wom.2	+						C20orf7_uc002won.2_Intron|C20orf7_uc002woo.2_Intron|uc002wop.2_5'Flank	NM_024120	NP_077025			hypothetical protein LOC79133 isoform 1						mitochondrial respiratory chain complex I assembly	extrinsic to mitochondrial inner membrane	methyltransferase activity				0		Myeloproliferative disorder(85;0.00878)																---	---	---	---
KIF16B	55614	broad.mit.edu	37	20	16254045	16254045	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:16254045C>A	uc002wpg.1	-	26	3965	c.3807G>T	c.(3805-3807)AGG>AGT	p.R1269S	KIF16B_uc002wpe.1_Missense_Mutation_p.R621S|KIF16B_uc002wpf.1_Missense_Mutation_p.R610S|KIF16B_uc010gch.1_Missense_Mutation_p.R1218S	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	kinesin-like motor protein C20orf23	1269	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8																		---	---	---	---
BFSP1	631	broad.mit.edu	37	20	17489623	17489623	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:17489623G>A	uc002wpo.2	-	5	685	c.646C>T	c.(646-648)CGG>TGG	p.R216W	BFSP1_uc002wpp.2_Missense_Mutation_p.R91W|BFSP1_uc010zrn.1_Missense_Mutation_p.R77W|BFSP1_uc010zro.1_Missense_Mutation_p.R77W	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	filensin isoform 1	216	Rod.|Coil 2.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)	1																		---	---	---	---
GGTLC1	92086	broad.mit.edu	37	20	23966583	23966583	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:23966583C>T	uc002wts.2	-	4	466	c.333G>A	c.(331-333)CCG>CCA	p.P111P	GGTLC1_uc002wtu.2_Silent_p.P111P	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	111							gamma-glutamyltransferase activity			ovary(1)	1																		---	---	---	---
FOXS1	2307	broad.mit.edu	37	20	30432975	30432975	+	Missense_Mutation	SNP	C	T	T	rs149951103		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30432975C>T	uc002wwt.1	-	1	446	c.371G>A	c.(370-372)CGG>CAG	p.R124Q		NM_004118	NP_004109	O43638	FOXS1_HUMAN	forkhead box S1	124					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|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			ovary(1)	1																		---	---	---	---
TTLL9	164395	broad.mit.edu	37	20	30497598	30497598	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30497598G>A	uc010gdx.1	+	6	630	c.377G>A	c.(376-378)CGT>CAT	p.R126H	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	126	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
TTLL9	164395	broad.mit.edu	37	20	30507704	30507704	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30507704G>A	uc010gdx.1	+	7	795	c.542G>A	c.(541-543)CGT>CAT	p.R181H	TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_Intron|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Intron|TTLL9_uc010ztp.1_Intron|TTLL9_uc010ztq.1_RNA	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	181	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			ovary(2)	2			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30720866	30720866	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30720866C>T	uc002wxj.2	+	2	301	c.66C>T	c.(64-66)AGC>AGT	p.S22S	TM9SF4_uc010ztr.1_5'UTR|TM9SF4_uc010zts.1_5'UTR|TM9SF4_uc002wxk.2_Silent_p.S5S	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	22						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)															---	---	---	---
TM9SF4	9777	broad.mit.edu	37	20	30749115	30749115	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30749115G>A	uc002wxj.2	+	17	1961	c.1726G>A	c.(1726-1728)GGG>AGG	p.G576R	TM9SF4_uc010zts.1_Missense_Mutation_p.G483R|TM9SF4_uc002wxk.2_Missense_Mutation_p.G559R|TM9SF4_uc010gdz.2_Missense_Mutation_p.G455R	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	576	Helical; (Potential).					integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)															---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31022934	31022934	+	Missense_Mutation	SNP	G	A	A	rs138624526		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31022934G>A	uc002wxs.2	+	12	2845	c.2419G>A	c.(2419-2421)GTT>ATT	p.V807I	ASXL1_uc010geb.2_Missense_Mutation_p.V698I	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	807					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248								F|N|Mis		MDS|CMML								---	---	---	---
ASXL1	171023	broad.mit.edu	37	20	31023718	31023718	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31023718G>A	uc002wxs.2	+	12	3629	c.3203G>A	c.(3202-3204)CGA>CAA	p.R1068Q	ASXL1_uc010geb.2_Missense_Mutation_p.R959Q	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	1068					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.R1068*(2)		haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248								F|N|Mis		MDS|CMML								---	---	---	---
BPIL1	80341	broad.mit.edu	37	20	31600673	31600673	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31600673C>T	uc002wyj.2	+	4	462	c.268C>T	c.(268-270)CGC>TGC	p.R90C		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	bactericidal/permeability-increasing	90						extracellular region	lipid binding			skin(2)|large_intestine(1)|ovary(1)	4																		---	---	---	---
FAM83C	128876	broad.mit.edu	37	20	33875137	33875137	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33875137C>T	uc010zux.1	-	4	1563	c.1445G>A	c.(1444-1446)CGA>CAA	p.R482Q	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.R137Q	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	482										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)															---	---	---	---
C20orf117	140710	broad.mit.edu	37	20	35438426	35438426	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35438426G>A	uc002xgd.1	-	7	2155	c.1828C>T	c.(1828-1830)CGA>TGA	p.R610*	C20orf117_uc002xge.1_RNA	NM_199181	NP_954650	O94964	K0889_HUMAN	hypothetical protein LOC140710 isoform 2	610											0		Myeloproliferative disorder(115;0.00874)																---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36848128	36848128	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:36848128G>A	uc002xhy.1	-	11	2732	c.2460C>T	c.(2458-2460)GAC>GAT	p.D820D	KIAA1755_uc002xhv.1_5'Flank|KIAA1755_uc002xhw.1_5'Flank|KIAA1755_uc002xhx.1_Silent_p.D98D	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	hypothetical protein LOC85449	820										ovary(4)|pancreas(1)	5		Myeloproliferative disorder(115;0.00874)																---	---	---	---
ACTR5	79913	broad.mit.edu	37	20	37400240	37400240	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37400240C>T	uc002xjd.2	+	9	1630	c.1605C>T	c.(1603-1605)TAC>TAT	p.Y535Y		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog	535					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding				0		Myeloproliferative disorder(115;0.00878)																---	---	---	---
PPP1R16B	26051	broad.mit.edu	37	20	37536484	37536484	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37536484C>T	uc002xje.2	+	9	1123	c.934C>T	c.(934-936)CTG>TTG	p.L312L	PPP1R16B_uc010ggc.2_Silent_p.L270L	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	protein phosphatase 1 regulatory inhibitor	312					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3		Myeloproliferative disorder(115;0.00878)																---	---	---	---
FAM83D	81610	broad.mit.edu	37	20	37580403	37580403	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:37580403G>A	uc002xjg.2	+	4	1129	c.1088G>A	c.(1087-1089)CGG>CAG	p.R363Q		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	hypothetical protein LOC81610	333					cell division|mitosis	cytoplasm|spindle pole				ovary(3)	3		Myeloproliferative disorder(115;0.00878)																---	---	---	---
TOP1	7150	broad.mit.edu	37	20	39713178	39713178	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39713178C>T	uc002xjl.2	+	8	830	c.584C>T	c.(583-585)CCG>CTG	p.P195L	TOP1_uc010gge.1_RNA	NM_003286	NP_003277	P11387	TOP1_HUMAN	DNA topoisomerase I	195	Lys-rich.				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(3)|ovary(2)|central_nervous_system(1)|kidney(1)	7		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)			T	NUP98	AML*								---	---	---	---
PLCG1	5335	broad.mit.edu	37	20	39788291	39788291	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39788291G>A	uc002xjp.1	+	2	384	c.263G>A	c.(262-264)CGG>CAG	p.R88Q	PLCG1_uc002xjo.1_Missense_Mutation_p.R88Q	NM_182811	NP_877963	P19174	PLCG1_HUMAN	phospholipase C, gamma 1 isoform b	88	PH 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			lung(3)|breast(3)|skin(2)	8		Myeloproliferative disorder(115;0.00878)																---	---	---	---
ZHX3	23051	broad.mit.edu	37	20	39833083	39833083	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:39833083G>A	uc002xjs.1	-	3	852	c.474C>T	c.(472-474)AGC>AGT	p.S158S	ZHX3_uc002xjq.1_Silent_p.S158S|ZHX3_uc002xjr.1_Silent_p.S158S|ZHX3_uc002xjt.1_Silent_p.S158S|ZHX3_uc002xju.1_Silent_p.S158S|ZHX3_uc002xjv.1_Silent_p.S158S|ZHX3_uc002xjw.1_Silent_p.S158S|ZHX3_uc010ggg.1_Silent_p.S158S	NM_015035	NP_055850	Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	158					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|pancreas(1)|skin(1)	3		Myeloproliferative disorder(115;0.00425)																---	---	---	---
JPH2	57158	broad.mit.edu	37	20	42747263	42747263	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42747263C>T	uc002xli.1	-	3	2043	c.1170G>A	c.(1168-1170)AGG>AGA	p.R390R		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	390	Ala-rich.|Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---
JPH2	57158	broad.mit.edu	37	20	42788616	42788616	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42788616C>T	uc002xli.1	-	2	1684	c.811G>A	c.(811-813)GAG>AAG	p.E271K		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	junctophilin 2 isoform 1	271	Cytoplasmic (Potential).				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane					0		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---
C20orf111	51526	broad.mit.edu	37	20	42826091	42826091	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:42826091C>T	uc002xlk.2	-	4	617	c.480G>A	c.(478-480)GAG>GAA	p.E160E		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	oxidative stress responsive 1	160											0		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---
SERINC3	10955	broad.mit.edu	37	20	43129822	43129822	+	Missense_Mutation	SNP	C	T	T	rs146451210		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43129822C>T	uc002xme.2	-	9	1309	c.1175G>A	c.(1174-1176)CGG>CAG	p.R392Q	SERINC3_uc002xmf.1_Missense_Mutation_p.R392Q|SERINC3_uc010ggs.1_Missense_Mutation_p.R385Q|SERINC3_uc010zwp.1_Missense_Mutation_p.R337Q	NM_198941	NP_945179	Q13530	SERC3_HUMAN	tumor differentially expressed protein 1	392	Extracellular (Potential).					integral to membrane|plasma membrane	protein binding			skin(3)	3		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)															---	---	---	---
ZSWIM1	90204	broad.mit.edu	37	20	44512444	44512444	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44512444C>T	uc010ghi.2	+	2	1326	c.1213C>T	c.(1213-1215)CGC>TGC	p.R405C	ZSWIM1_uc010zxh.1_Missense_Mutation_p.R278C	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	405	SWIM-type.						zinc ion binding			skin(1)	1		Myeloproliferative disorder(115;0.028)																---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44685204	44685204	+	Splice_Site	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44685204G>A	uc010zxl.1	+	23	3255	c.3179_splice	c.e23+1	p.P1060_splice	SLC12A5_uc002xrb.2_Splice_Site_p.P1037_splice	NM_001134771	NP_001128243			solute carrier family 12 (potassium-chloride						potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)													---	---	---	---
SLC12A5	57468	broad.mit.edu	37	20	44685838	44685838	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44685838C>T	uc010zxl.1	+	25	3300	c.3224C>T	c.(3223-3225)ACG>ATG	p.T1075M	SLC12A5_uc002xrb.2_Missense_Mutation_p.T1052M	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium-chloride	1075	Cytoplasmic (Potential).				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)													---	---	---	---
CDH22	64405	broad.mit.edu	37	20	44806829	44806829	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44806829G>A	uc002xrm.2	-	10	2072	c.1671C>T	c.(1669-1671)ACC>ACT	p.T557T	CDH22_uc010ghk.1_Silent_p.T557T	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	557	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)																---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45192105	45192105	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:45192105G>A	uc002xsf.1	-	12	1618	c.1580C>T	c.(1579-1581)ACG>ATG	p.T527M	SLC13A3_uc010ghn.1_Missense_Mutation_p.T496M|SLC13A3_uc010zxw.1_Missense_Mutation_p.T477M|SLC13A3_uc002xsg.1_Missense_Mutation_p.T480M|SLC13A3_uc010gho.1_Missense_Mutation_p.T445M|SLC13A3_uc010zxx.1_Missense_Mutation_p.T429M|SLC13A3_uc002xse.1_Missense_Mutation_p.T18M|SLC13A3_uc010ghm.1_Missense_Mutation_p.T114M|SLC13A3_uc010zxv.1_Missense_Mutation_p.T112M	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	solute carrier family 13 member 3 isoform a	527	Cytoplasmic (Potential).					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			ovary(1)	1		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)													---	---	---	---
SULF2	55959	broad.mit.edu	37	20	46331303	46331303	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:46331303C>T	uc002xto.2	-	4	857	c.527G>A	c.(526-528)CGG>CAG	p.R176Q	SULF2_uc002xtr.2_Missense_Mutation_p.R176Q|SULF2_uc002xtq.2_Missense_Mutation_p.R176Q|SULF2_uc010ghv.1_Missense_Mutation_p.R176Q	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	sulfatase 2 isoform a precursor	176					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			ovary(2)|breast(2)|pancreas(1)|skin(1)	6																		---	---	---	---
ATP9A	10079	broad.mit.edu	37	20	50273505	50273505	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50273505C>T	uc002xwg.1	-	14	1478	c.1478G>A	c.(1477-1479)CGC>CAC	p.R493H	ATP9A_uc010gih.1_Missense_Mutation_p.R357H|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	493	Cytoplasmic (Potential).				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			ovary(4)	4																		---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50406728	50406728	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50406728G>A	uc002xwh.3	-	2	2395	c.2294C>T	c.(2293-2295)TCG>TTG	p.S765L	SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	sal-like 4	765					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2																		---	---	---	---
AURKA	6790	broad.mit.edu	37	20	54961464	54961464	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:54961464G>A	uc002xxd.1	-	5	734	c.168C>T	c.(166-168)CGC>CGT	p.R56R	AURKA_uc002xxe.1_Silent_p.R56R|AURKA_uc002xxf.1_Silent_p.R56R|AURKA_uc002xxg.1_Silent_p.R56R|AURKA_uc002xxh.1_Silent_p.R56R|AURKA_uc002xxi.1_Silent_p.R56R|AURKA_uc002xxj.1_Silent_p.R56R|AURKA_uc002xxk.1_Silent_p.R56R|AURKA_uc010zzd.1_Intron	NM_198433	NP_940835	O14965	AURKA_HUMAN	serine/threonine protein kinase 6	56					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8			Colorectal(105;0.202)															---	---	---	---
ZBP1	81030	broad.mit.edu	37	20	56179814	56179814	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:56179814C>T	uc002xyo.2	-	8	1386	c.1105G>A	c.(1105-1107)GCA>ACA	p.A369T	ZBP1_uc010gjm.2_Missense_Mutation_p.A368T|ZBP1_uc002xyp.2_Missense_Mutation_p.A294T	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1 isoform a	369						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			ovary(2)	2	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)															---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57484421	57484421	+	Missense_Mutation	SNP	G	A	A	rs121913495		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57484421G>A	uc002xzw.2	+	8	2816	c.2531G>A	c.(2530-2532)CGT>CAT	p.R844H	GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R142H|GNAS_uc002xzx.2_Missense_Mutation_p.R142H|GNAS_uc010gjr.2_Missense_Mutation_p.R92H|GNAS_uc002xzy.2_Missense_Mutation_p.R127H|GNAS_uc002yaa.2_Missense_Mutation_p.R187H|GNAS_uc010zzt.1_Missense_Mutation_p.R202H|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R92H|GNAS_uc002yae.2_Missense_Mutation_p.R126H	NM_080425	NP_536350	P63092	GNAS2_HUMAN	GNAS complex locus XLas	201	GTP (By similarity).		R -> L (in non-MAS endocrine tumors).|R -> S (in AIMAH, pituitary tumor and polyostotic fibrous dysplasia).|R -> H (in MAS, somatotrophinoma and AIMAH).|R -> G (in MAS).		activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.R201H(37)|p.R201L(1)|p.R844H(1)		pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)					Mis		pituitary adenoma		McCune-Albright syndrome; pseudohypoparathyroidism|type IA		3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome	TSP Lung(22;0.16)			---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57767105	57767105	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:57767105C>T	uc002yan.2	+	1	1031	c.1031C>T	c.(1030-1032)TCG>TTG	p.S344L		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	344						intracellular	nucleic acid binding|zinc ion binding			skin(13)|ovary(1)	14	all_lung(29;0.0085)																	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58330401	58330401	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:58330401G>A	uc002yau.2	+	4	990	c.523G>A	c.(523-525)GCC>ACC	p.A175T	PHACTR3_uc002yat.2_Missense_Mutation_p.A172T|PHACTR3_uc010zzw.1_Missense_Mutation_p.A134T|PHACTR3_uc002yav.2_Missense_Mutation_p.A134T|PHACTR3_uc002yaw.2_Missense_Mutation_p.A134T|PHACTR3_uc002yax.2_Missense_Mutation_p.A134T	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3 isoform 1	175						nuclear matrix	actin binding|protein phosphatase inhibitor activity			ovary(2)|pancreas(1)	3	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)															---	---	---	---
OSBPL2	9885	broad.mit.edu	37	20	60856153	60856153	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60856153C>T	uc002yck.1	+	8	916	c.714C>T	c.(712-714)TGC>TGT	p.C238C	OSBPL2_uc002ycl.1_Silent_p.C226C|OSBPL2_uc011aah.1_Silent_p.C146C|OSBPL2_uc002ycm.1_Silent_p.C50C	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	oxysterol-binding protein-like protein 2 isoform	238					lipid transport		lipid binding			ovary(1)|central_nervous_system(1)	2	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)															---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60886548	60886548	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:60886548C>T	uc002ycq.2	-	72	9918	c.9851G>A	c.(9850-9852)GGC>GAC	p.G3284D		NM_005560	NP_005551	O15230	LAMA5_HUMAN	laminin alpha 5 precursor	3284	Laminin G-like 3.				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)													---	---	---	---
C20orf200	253868	broad.mit.edu	37	20	61143777	61143777	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61143777G>A	uc002ycz.1	-	3	562	c.71C>T	c.(70-72)ACG>ATG	p.T24M	C20orf200_uc002ycy.2_RNA	NM_152757	NP_689970			hypothetical protein LOC253868												0	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)															---	---	---	---
SLCO4A1	28231	broad.mit.edu	37	20	61288414	61288414	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61288414C>T	uc002ydb.1	+	2	813	c.608C>T	c.(607-609)GCG>GTG	p.A203V	SLCO4A1_uc002ydc.1_RNA	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family	203	Extracellular (Potential).				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			ovary(1)	1	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)															---	---	---	---
COL9A3	1299	broad.mit.edu	37	20	61461755	61461755	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61461755G>A	uc002ydm.2	+	23	1208	c.1205G>A	c.(1204-1206)CGA>CAA	p.R402Q		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	402	Triple-helical region 3 (COL3).		R -> Q.		axon guidance	collagen type IX					0	Breast(26;5.68e-08)																	---	---	---	---
EEF1A2	1917	broad.mit.edu	37	20	62120472	62120472	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62120472C>T	uc002yfd.1	-	6	1164	c.1063G>A	c.(1063-1065)GCC>ACC	p.A355T	EEF1A2_uc002yfe.1_Missense_Mutation_p.A355T|EEF1A2_uc010gkg.1_Intron	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha	355						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity				0	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)															---	---	---	---
RTEL1	51750	broad.mit.edu	37	20	62324311	62324311	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62324311G>A	uc002yfu.1	+	29	3149	c.2806G>A	c.(2806-2808)GGC>AGC	p.G936S	RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Missense_Mutation_p.G936S|RTEL1_uc011abd.1_Missense_Mutation_p.G960S|RTEL1_uc011abe.1_Missense_Mutation_p.G713S|RTEL1_uc002yfw.2_RNA|RTEL1_uc002yfx.1_Missense_Mutation_p.G181S|TNFRSF6B_uc002yfy.2_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	936					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding				0	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)															---	---	---	---
ZNF512B	57473	broad.mit.edu	37	20	62593712	62593712	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62593712G>C	uc002yhl.1	-	14	2233	c.2179C>G	c.(2179-2181)CCA>GCA	p.P727A		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	zinc finger protein 512B	727					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)																	---	---	---	---
MYT1	4661	broad.mit.edu	37	20	62848432	62848432	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62848432C>T	uc002yii.2	+	11	2008	c.1644C>T	c.(1642-1644)TTC>TTT	p.F548F	MYT1_uc002yih.2_Silent_p.F250F|MYT1_uc002yij.2_Silent_p.F180F	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	548					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)																	---	---	---	---
APP	351	broad.mit.edu	37	21	27394295	27394295	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:27394295G>A	uc002ylz.2	-	6	926	c.726C>T	c.(724-726)GCC>GCT	p.A242A	APP_uc010glk.2_Silent_p.A237A|APP_uc002yma.2_Silent_p.A242A|APP_uc011ach.1_Silent_p.A186A|APP_uc002ymb.2_Silent_p.A242A|APP_uc010glj.2_Silent_p.A186A|APP_uc011aci.1_Silent_p.A207A|APP_uc011acj.1_Silent_p.A242A	NM_000484	NP_000475	P05067	A4_HUMAN	amyloid beta A4 protein isoform a precursor	242	Extracellular (Potential).|Asp/Glu-rich (acidic).				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			ovary(1)	1		Breast(209;0.00295)																---	---	---	---
ADAMTS5	11096	broad.mit.edu	37	21	28302347	28302347	+	Missense_Mutation	SNP	T	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:28302347T>G	uc002ymg.2	-	7	2812	c.2083A>C	c.(2083-2085)AAT>CAT	p.N695H		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1	695	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4																		---	---	---	---
KRTAP27-1	643812	broad.mit.edu	37	21	31709603	31709603	+	Silent	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31709603G>T	uc002ynx.1	-	1	410	c.384C>A	c.(382-384)GCC>GCA	p.A128A		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	128						intermediate filament				ovary(2)	2																		---	---	---	---
KRTAP13-4	284827	broad.mit.edu	37	21	31802630	31802630	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31802630C>T	uc011acw.1	+	1	37	c.37C>T	c.(37-39)CGC>TGC	p.R13C		NM_181600	NP_853631	Q3LI77	KR134_HUMAN	keratin associated protein 13-4	13						intermediate filament					0																		---	---	---	---
KRTAP20-2	337976	broad.mit.edu	37	21	32007651	32007651	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:32007651C>T	uc011adg.1	+	1	69	c.69C>T	c.(67-69)GGC>GGT	p.G23G		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	23						intermediate filament				central_nervous_system(1)	1																		---	---	---	---
OLIG1	116448	broad.mit.edu	37	21	34443010	34443010	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34443010C>T	uc002yqz.2	+	1	561	c.458C>T	c.(457-459)ACG>ATG	p.T153M		NM_138983	NP_620450	Q8TAK6	OLIG1_HUMAN	oligodendrocyte transcription factor 1	153	Helix-loop-helix motif.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)	1																		---	---	---	---
SON	6651	broad.mit.edu	37	21	34931600	34931600	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34931600C>T	uc002yse.1	+	5	6435	c.6386C>T	c.(6385-6387)TCG>TTG	p.S2129L	SON_uc002ysc.2_Missense_Mutation_p.S2129L|SON_uc002ysd.2_Missense_Mutation_p.S1120L|SON_uc002ysf.1_Missense_Mutation_p.S157L|SON_uc002ysg.2_Missense_Mutation_p.S1120L	NM_138927	NP_620305	P18583	SON_HUMAN	SON DNA-binding protein isoform F	2129					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			ovary(4)|skin(2)	6																		---	---	---	---
ITSN1	6453	broad.mit.edu	37	21	35147078	35147078	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:35147078C>T	uc002yta.1	+	13	1619	c.1351C>T	c.(1351-1353)CGG>TGG	p.R451W	DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.R451W|ITSN1_uc010gmg.2_Missense_Mutation_p.R414W|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.R451W|ITSN1_uc010gmi.2_Missense_Mutation_p.R414W|ITSN1_uc010gmj.2_Missense_Mutation_p.R335W|ITSN1_uc002ysy.2_Missense_Mutation_p.R451W|ITSN1_uc002ysx.2_Missense_Mutation_p.R414W|ITSN1_uc002ytb.1_Missense_Mutation_p.R451W|ITSN1_uc002ytc.1_Missense_Mutation_p.R451W|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.R414W|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.R451W|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Missense_Mutation_p.R385W	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	intersectin 1 isoform ITSN-l	451	Potential.|KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			ovary(3)|skin(1)	4																		---	---	---	---
DOPEY2	9980	broad.mit.edu	37	21	37571375	37571375	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:37571375A>G	uc002yvg.2	+	3	225	c.146A>G	c.(145-147)CAG>CGG	p.Q49R	DOPEY2_uc011aeb.1_Missense_Mutation_p.Q49R	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	pad-1-like	49					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				ovary(1)|central_nervous_system(1)	2																		---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40636521	40636521	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40636521G>C	uc002yxk.1	-	17	1889	c.1750C>G	c.(1750-1752)CCT>GCT	p.P584A	BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.P584A|BRWD1_uc010goe.1_Intron|BRWD1_uc010gof.1_Missense_Mutation_p.P37A|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.P304A	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)																---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41457607	41457607	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41457607C>T	uc002yyq.1	-	23	4506	c.4054G>A	c.(4054-4056)GAA>AAA	p.E1352K	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	1352	Extracellular (Potential).|Ig-like C2-type 10.				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)																---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41648130	41648130	+	Silent	SNP	C	T	T	rs139291190	by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:41648130C>T	uc002yyq.1	-	11	2702	c.2250G>A	c.(2248-2250)TCG>TCA	p.S750S	DSCAM_uc002yyr.1_RNA	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule isoform	750	Extracellular (Potential).|Ig-like C2-type 8.				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)																---	---	---	---
FAM3B	54097	broad.mit.edu	37	21	42694901	42694901	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:42694901C>T	uc002yzb.1	+	2	217	c.71C>T	c.(70-72)TCG>TTG	p.S24L	FAM3B_uc002yza.2_RNA|FAM3B_uc002yzc.1_Intron|FAM3B_uc002yzd.1_Missense_Mutation_p.S47L|FAM3B_uc011aeq.1_Missense_Mutation_p.S38L	NM_058186	NP_478066	P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	24					apoptosis|insulin secretion	extracellular space	cytokine activity				0		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)																---	---	---	---
C2CD2	25966	broad.mit.edu	37	21	43338273	43338273	+	Missense_Mutation	SNP	C	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43338273C>G	uc002yzw.2	-	5	903	c.661G>C	c.(661-663)GGT>CGT	p.G221R	C2CD2_uc002yzu.2_Missense_Mutation_p.G53R|C2CD2_uc002yzv.2_Missense_Mutation_p.G66R|C2CD2_uc002yzx.1_Missense_Mutation_p.G66R	NM_015500	NP_056315	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2 isoform	221						cytosol|extracellular region|nucleus				ovary(1)	1																		---	---	---	---
ZNF295	49854	broad.mit.edu	37	21	43412172	43412172	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	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																		---	---	---	---
ABCG1	9619	broad.mit.edu	37	21	43714712	43714712	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43714712G>A	uc002zaq.2	+	14	1856	c.1750G>A	c.(1750-1752)GTC>ATC	p.V584I	ABCG1_uc002zan.2_Missense_Mutation_p.V574I|ABCG1_uc002zam.2_Missense_Mutation_p.V550I|ABCG1_uc002zao.2_Missense_Mutation_p.V569I|ABCG1_uc002zap.2_Missense_Mutation_p.V572I|ABCG1_uc002zar.2_Missense_Mutation_p.V583I|ABCG1_uc011aev.1_Missense_Mutation_p.V595I|ABCG1_uc010gpb.1_Missense_Mutation_p.R224H	NM_004915	NP_004906	P45844	ABCG1_HUMAN	ATP-binding cassette sub-family G member 1	584	ABC transmembrane type-2.|Helical; (Potential).				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)													---	---	---	---
ABCG1	9619	broad.mit.edu	37	21	43714779	43714779	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:43714779C>T	uc002zaq.2	+						ABCG1_uc002zan.2_Intron|ABCG1_uc002zam.2_Intron|ABCG1_uc002zao.2_Intron|ABCG1_uc002zap.2_Intron|ABCG1_uc002zar.2_Intron|ABCG1_uc011aev.1_Intron|ABCG1_uc010gpb.1_Silent_p.G246G	NM_004915	NP_004906			ATP-binding cassette sub-family G member 1						amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			ovary(2)|central_nervous_system(1)	3					Adenosine triphosphate(DB00171)													---	---	---	---
NDUFV3	4731	broad.mit.edu	37	21	44329139	44329139	+	3'UTR	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44329139C>T	uc002zcn.2	+	3					NDUFV3_uc002zcm.2_3'UTR	NM_001001503	NP_001001503			NADH-ubiquinone oxidoreductase flavoprotein 3						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			ovary(2)	2				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)													---	---	---	---
CBS	875	broad.mit.edu	37	21	44480586	44480586	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:44480586G>A	uc002zcu.2	-	12	1355	c.1110C>T	c.(1108-1110)TGC>TGT	p.C370C	CBS_uc002zcs.1_Silent_p.C265C|CBS_uc002zct.2_Silent_p.C370C|CBS_uc002zcw.3_Silent_p.C370C|CBS_uc002zcv.2_Silent_p.C370C|CBS_uc002zcx.2_5'UTR	NM_000071	NP_000062	P35520	CBS_HUMAN	cystathionine-beta-synthase	370			C -> Y (in CBSD).		cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding				0					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)													---	---	---	---
RRP1	8568	broad.mit.edu	37	21	45217944	45217944	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45217944C>T	uc002zds.2	+	8	867	c.774C>T	c.(772-774)GAC>GAT	p.D258D	RRP1_uc011aez.1_Silent_p.D258D|RRP1_uc010gpk.1_Silent_p.D108D|RRP1_uc010gpl.1_Silent_p.D156D|RRP1_uc010gpm.1_Silent_p.D125D	NM_003683	NP_003674	P56182	RRP1_HUMAN	ribosomal RNA processing 1 homolog	258					rRNA processing	nucleolus|preribosome, small subunit precursor					0				COAD - Colon adenocarcinoma(84;0.00753)|Colorectal(79;0.0157)|STAD - Stomach adenocarcinoma(101;0.171)														---	---	---	---
PWP2	5822	broad.mit.edu	37	21	45548015	45548015	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45548015G>A	uc002zeb.2	+	18	2433	c.2343G>A	c.(2341-2343)GCG>GCA	p.A781A		NM_005049	NP_005040	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog	781						cytoplasm|nucleolus	signal transducer activity			pancreas(1)	1				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)														---	---	---	---
C21orf33	8209	broad.mit.edu	37	21	45560144	45560144	+	Silent	SNP	C	T	T	rs143689872		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45560144C>T	uc002zec.3	+	5	527	c.441C>T	c.(439-441)GCC>GCT	p.A147A	C21orf33_uc002zed.3_Intron	NM_004649	NP_004640	P30042	ES1_HUMAN	es1 protein isoform Ia precursor	147						mitochondrion				ovary(1)	1				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)														---	---	---	---
KRTAP10-5	386680	broad.mit.edu	37	21	45999796	45999796	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45999796G>A	uc002zfl.1	-	1	686	c.660C>T	c.(658-660)TCC>TCT	p.S220S	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	keratin associated protein 10-5	220	22 X 5 AA repeats of C-C-X(3).					keratin filament					0																		---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46875743	46875743	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46875743C>T	uc011afs.1	+	1	320	c.299C>T	c.(298-300)CCG>CTG	p.P100L	COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Missense_Mutation_p.P100L	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	100					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)														---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46875780	46875780	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46875780C>T	uc011afs.1	+	1	357	c.336C>T	c.(334-336)GCC>GCT	p.A112A	COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Silent_p.A112A	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	112					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)														---	---	---	---
COL18A1	80781	broad.mit.edu	37	21	46924418	46924418	+	Missense_Mutation	SNP	G	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46924418G>C	uc011afs.1	+	33	4082	c.4061G>C	c.(4060-4062)GGC>GCC	p.G1354A	COL18A1_uc002zhg.2_Missense_Mutation_p.G939A|COL18A1_uc002zhi.2_Missense_Mutation_p.G1119A|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.2_5'UTR|COL18A1_uc002zhk.2_5'Flank	NM_130444	NP_569711	P39060	COIA1_HUMAN	alpha 1 type XVIII collagen isoform 3 precursor	1357	Triple-helical region 9 (COL9).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			central_nervous_system(1)	1				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)														---	---	---	---
COL6A1	1291	broad.mit.edu	37	21	47422235	47422235	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47422235G>A	uc002zhu.1	+	32	2272	c.2170G>A	c.(2170-2172)GCC>ACC	p.A724T	COL6A1_uc010gqd.1_Missense_Mutation_p.A55T|COL6A1_uc002zhv.1_Missense_Mutation_p.A55T|COL6A1_uc002zhw.1_5'Flank	NM_001848	NP_001839	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1 precursor	724	VWFA 2.|C-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)													---	---	---	---
C21orf56	84221	broad.mit.edu	37	21	47581876	47581876	+	Missense_Mutation	SNP	C	T	T	rs146221890		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47581876C>T	uc011afu.1	-	4	1712	c.650G>A	c.(649-651)CGG>CAG	p.R217Q	C21orf56_uc002zii.2_Missense_Mutation_p.R63Q	NM_001142854	NP_001136326	Q9H0A9	CU056_HUMAN	hypothetical protein LOC84221 isoform 1	217							protein binding	p.R63Q(1)		skin(1)	1	Breast(49;0.214)			Colorectal(79;0.241)														---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47693430	47693430	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47693430C>T	uc002zir.1	-	7	2104	c.2068G>A	c.(2068-2070)GAG>AAG	p.E690K		NM_003906	NP_003897	O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3	690					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			large_intestine(2)|lung(1)|ovary(1)|skin(1)	5	Breast(49;0.112)																	---	---	---	---
PCNT	5116	broad.mit.edu	37	21	47831963	47831963	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47831963G>A	uc002zji.3	+	28	6083	c.5976G>A	c.(5974-5976)CCG>CCA	p.P1992P	PCNT_uc002zjj.2_Silent_p.P1874P	NM_006031	NP_006022	O95613	PCNT_HUMAN	pericentrin	1992					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			ovary(4)|breast(2)|pancreas(2)	8	Breast(49;0.112)																	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47957385	47957385	+	Silent	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47957385C>A	uc002zjo.2	+	15	1917	c.1734C>A	c.(1732-1734)GTC>GTA	p.V578V	DIP2A_uc011afy.1_Silent_p.V514V|DIP2A_uc011afz.1_Silent_p.V574V|DIP2A_uc002zjl.2_Silent_p.V578V|DIP2A_uc002zjm.2_Silent_p.V578V|DIP2A_uc010gql.2_Silent_p.V535V|DIP2A_uc002zjn.2_Silent_p.V578V|DIP2A_uc002zjp.1_Silent_p.V323V|DIP2A_uc002zjq.2_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	578					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)														---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17072886	17072886	+	Silent	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17072886G>T	uc002zlp.1	-	1	815	c.555C>A	c.(553-555)GCC>GCA	p.A185A		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	T-complex protein 1	185					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			ovary(1)	1	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)																---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18364065	18364065	+	Intron	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18364065C>T	uc002zng.3	-						MICAL3_uc011agl.1_Intron|MICAL3_uc002znh.2_Intron|MICAL3_uc002znj.1_Intron|MICAL3_uc002znk.1_Intron|MICAL3_uc002znl.1_Intron|MICAL3_uc002znm.2_Intron|MICAL3_uc010grf.2_Missense_Mutation_p.R749Q	NM_015241	NP_056056			microtubule associated monoxygenase, calponin							cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding				0		all_epithelial(15;0.198)		Lung(27;0.0427)														---	---	---	---
CLTCL1	8218	broad.mit.edu	37	22	19187362	19187362	+	Intron	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19187362G>A	uc002zpb.2	-						CLTCL1_uc011agv.1_Intron|CLTCL1_uc011agw.1_Intron|CLTCL1_uc011agt.1_Intron|CLTCL1_uc011agu.1_Intron|CLTCL1_uc010grm.1_Intron|CLTCL1_uc002zpe.2_Intron|CLTCL1_uc002zpd.1_Intron	NM_007098	NP_009029			clathrin, heavy polypeptide-like 1 isoform 1						anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			ovary(4)|central_nervous_system(1)	5	Colorectal(54;0.0993)							T	?	ALCL								---	---	---	---
LZTR1	8216	broad.mit.edu	37	22	21351028	21351028	+	Missense_Mutation	SNP	C	T	T	rs141161152		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21351028C>T	uc002zto.2	+	19	2366	c.2263C>T	c.(2263-2265)CGG>TGG	p.R755W	LZTR1_uc002ztn.2_Missense_Mutation_p.R714W|LZTR1_uc011ahy.1_Missense_Mutation_p.R736W|LZTR1_uc002ztp.2_Missense_Mutation_p.R61W	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	755					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			ovary(2)|lung(2)	4	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)															---	---	---	---
CABIN1	23523	broad.mit.edu	37	22	24530314	24530314	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24530314T>C	uc002zzi.1	+	29	4805	c.4678T>C	c.(4678-4680)TGG>CGG	p.W1560R	CABIN1_uc002zzj.1_Missense_Mutation_p.W1481R|CABIN1_uc002zzl.1_Missense_Mutation_p.W1560R	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1560					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---
UPB1	51733	broad.mit.edu	37	22	24891361	24891361	+	5'UTR	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24891361G>A	uc003aaf.2	+	1					UPB1_uc003aae.2_5'UTR|UPB1_uc011ajt.1_5'UTR|C22orf45_uc003aad.1_5'Flank	NM_016327	NP_057411			beta-ureidopropionase						pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			ovary(2)	2	Colorectal(2;0.0339)																	---	---	---	---
C22orf36	388886	broad.mit.edu	37	22	24982177	24982177	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24982177G>A	uc003aaq.2	-	4	654	c.625C>T	c.(625-627)CGC>TGC	p.R209C	GGT1_uc003aan.1_Intron|C22orf36_uc003aao.2_RNA|C22orf36_uc003aap.2_RNA	NM_207644	NP_997527	Q2VPJ9	LRC6X_HUMAN	hypothetical protein LOC388886	209	LRR 2.										0																		---	---	---	---
SGSM1	129049	broad.mit.edu	37	22	25264776	25264776	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:25264776G>A	uc003abg.2	+	12	1402	c.1245G>A	c.(1243-1245)ACG>ACA	p.T415T	SGSM1_uc003abh.2_Silent_p.T415T|SGSM1_uc010guu.1_Silent_p.T415T|SGSM1_uc003abj.2_Silent_p.T415T|SGSM1_uc003abi.1_Silent_p.T390T	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	415						Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5																		---	---	---	---
SGSM1	129049	broad.mit.edu	37	22	25297852	25297852	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:25297852T>C	uc003abg.2	+	21	2985	c.2828T>C	c.(2827-2829)GTG>GCG	p.V943A	SGSM1_uc003abh.2_Missense_Mutation_p.V882A|SGSM1_uc010guu.1_Missense_Mutation_p.V888A|SGSM1_uc003abj.2_Missense_Mutation_p.V827A|SGSM1_uc003abi.1_Missense_Mutation_p.V863A	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	RUN and TBC1 domain containing 2 isoform 1	943	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			ovary(2)|central_nervous_system(2)|pancreas(1)	5																		---	---	---	---
LIF	3976	broad.mit.edu	37	22	30639980	30639980	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30639980G>A	uc003agz.2	-	3	381	c.269C>T	c.(268-270)CCG>CTG	p.P90L	LIF_uc011aks.1_Silent_p.P30P|uc003aha.2_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	leukemia inhibitory factor (cholinergic	90					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding				0			Epithelial(10;0.171)															---	---	---	---
MORC2	22880	broad.mit.edu	37	22	31342444	31342444	+	Intron	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31342444G>T	uc003aje.1	-							NM_014941	NP_055756			MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---
PLA2G3	50487	broad.mit.edu	37	22	31534698	31534698	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:31534698C>T	uc003aka.2	-	2	731	c.602G>A	c.(601-603)CGA>CAA	p.R201Q		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III precursor	201	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity				0																		---	---	---	---
PISD	23761	broad.mit.edu	37	22	32015676	32015676	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32015676G>A	uc003alm.3	-	8	1159	c.1152C>T	c.(1150-1152)TTC>TTT	p.F384F	PISD_uc003alk.2_Silent_p.F350F|PISD_uc003all.2_3'UTR|PISD_uc011alr.1_Silent_p.F349F|PISD_uc003aln.3_Silent_p.F346F	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	384					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(2)|ovary(1)	3					Phosphatidylserine(DB00144)													---	---	---	---
LARGE	9215	broad.mit.edu	37	22	33712182	33712182	+	Missense_Mutation	SNP	C	T	T	rs139603473		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:33712182C>T	uc003and.3	-	12	1919	c.1340G>A	c.(1339-1341)CGG>CAG	p.R447Q	LARGE_uc011amd.1_Missense_Mutation_p.R246Q|LARGE_uc003ane.3_Missense_Mutation_p.R447Q|LARGE_uc010gwp.2_Missense_Mutation_p.R395Q|LARGE_uc011ame.1_Missense_Mutation_p.R379Q|LARGE_uc011amf.1_Missense_Mutation_p.R447Q|LARGE_uc010gwq.1_RNA	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	447	Lumenal (Potential).				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(1;0.219)																---	---	---	---
C22orf33	339669	broad.mit.edu	37	22	37387314	37387314	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:37387314C>A	uc003aqf.2	-	6	895	c.749G>T	c.(748-750)CGG>CTG	p.R250L	C22orf33_uc003aqe.2_Missense_Mutation_p.R165L	NM_001163857	NP_001157329	O43247	EAN57_HUMAN	hypothetical protein LOC339669 isoform 1	250											0																		---	---	---	---
Unknown	0	broad.mit.edu	37	22	38421669	38421669	+	IGR	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38421669G>A								POLR2F (37328 upstream) : PICK1 (31593 downstream)																																			---	---	---	---
CSNK1E	1454	broad.mit.edu	37	22	38690489	38690489	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38690489G>A	uc003avj.2	-	8	1198	c.937C>T	c.(937-939)CGC>TGC	p.R313C	CSNK1E_uc003avk.2_Missense_Mutation_p.R313C|CSNK1E_uc003avl.1_RNA|CSNK1E_uc003avm.1_Missense_Mutation_p.R313C|CSNK1E_uc003avn.1_Translation_Start_Site|CSNK1E_uc003avo.2_Missense_Mutation_p.R313C	NM_152221	NP_689407	P49674	KC1E_HUMAN	casein kinase 1 epsilon	313					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Melanoma(58;0.045)																	---	---	---	---
SUN2	25777	broad.mit.edu	37	22	39146907	39146907	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39146907G>A	uc003awh.1	-	5	704	c.420C>T	c.(418-420)TAC>TAT	p.Y140Y	SUN2_uc011anz.1_Silent_p.Y175Y|SUN2_uc011aoa.1_Intron|SUN2_uc003awi.1_Silent_p.Y140Y|SUN2_uc010gxq.1_Silent_p.Y140Y|SUN2_uc010gxr.1_Silent_p.Y140Y|SUN2_uc010gxs.1_Silent_p.Y140Y	NM_015374	NP_056189	Q9UH99	SUN2_HUMAN	unc-84 homolog B	140	Nuclear.|Ser-rich.				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			large_intestine(1)|skin(1)	2																		---	---	---	---
APOBEC3B	9582	broad.mit.edu	37	22	39388141	39388141	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39388141G>A	uc003awo.1	+	7	1175	c.1121G>A	c.(1120-1122)CGG>CAG	p.R374Q	APOBEC3A_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.R349Q|APOBEC3B_uc003awq.1_RNA|APOBEC3D_uc011aod.1_Intron|APOBEC3D_uc011aoe.1_Intron|APOBEC3D_uc011aof.1_Intron	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic	374					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			ovary(1)	1	Melanoma(58;0.04)																	---	---	---	---
ATF4	468	broad.mit.edu	37	22	39918438	39918438	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39918438G>A	uc003axz.2	+	3	1167	c.887G>A	c.(886-888)CGC>CAC	p.R296H	ATF4_uc011aol.1_Missense_Mutation_p.R208H|ATF4_uc003aya.2_Missense_Mutation_p.R296H	NM_182810	NP_877962	P18848	ATF4_HUMAN	activating transcription factor 4	296	Basic motif.|				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	Melanoma(58;0.04)																	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41551082	41551082	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41551082C>T	uc003azl.3	+	17	3621	c.3226C>T	c.(3226-3228)CGT>TGT	p.R1076C		NM_001429	NP_001420	Q09472	EP300_HUMAN	E1A binding protein p300	1076	Bromo.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64								T| N|F|Mis|O	MLL|RUNXBP2	colorectal|breast|pancreatic|AML|ALL|DLBCL				Rubinstein-Taybi_syndrome				---	---	---	---
ZC3H7B	23264	broad.mit.edu	37	22	41721836	41721836	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41721836G>A	uc003azw.2	+	4	415	c.199G>A	c.(199-201)GAC>AAC	p.D67N	ZC3H7B_uc003azv.1_Missense_Mutation_p.D67N|ZC3H7B_uc010gyl.1_Intron	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	67	TPR 1.				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---
PRR5	55615	broad.mit.edu	37	22	45132994	45132994	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45132994C>T	uc003bfb.1	+	8	1306	c.1034C>T	c.(1033-1035)CCG>CTG	p.P345L	PRR5_uc003bew.1_Missense_Mutation_p.P336L|PRR5_uc003bex.1_Missense_Mutation_p.P250L|PRR5_uc010gzt.1_Missense_Mutation_p.P368L|PRR5_uc010gzu.1_Missense_Mutation_p.P309L|PRR5_uc003bey.1_Missense_Mutation_p.P336L|PRR5_uc003bez.1_Missense_Mutation_p.P250L|PRR5-ARHGAP8_uc003bfc.2_Intron|PRR5-ARHGAP8_uc003bfd.2_Intron|PRR5-ARHGAP8_uc011aqi.1_Intron|PRR5-ARHGAP8_uc011aqj.1_Intron|PRR5_uc003bfa.1_Missense_Mutation_p.P238L|PRR5_uc003bfe.1_RNA|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5_uc003bfh.1_Missense_Mutation_p.P244L	NM_181333	NP_851850	P85299	PRR5_HUMAN	proline rich 5 (renal) isoform 1	345					cell cycle					skin(1)	1		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)														---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46835250	46835250	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46835250G>A	uc003bhw.1	-	3	4242	c.4242C>T	c.(4240-4242)AAC>AAT	p.N1414N		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1414	Extracellular (Potential).|EGF-like 3; calcium-binding.				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)														---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46860057	46860057	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46860057C>T	uc003bhw.1	-	2	3730	c.3730G>A	c.(3730-3732)GTC>ATC	p.V1244I		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	cadherin EGF LAG seven-pass G-type receptor 1	1244	Extracellular (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)														---	---	---	---
TUBGCP6	85378	broad.mit.edu	37	22	50656200	50656200	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50656200G>A	uc003bkb.1	-	25	5937	c.5425C>T	c.(5425-5427)CGC>TGC	p.R1809C	TUBGCP6_uc003bka.1_Missense_Mutation_p.R879C|TUBGCP6_uc010har.1_Missense_Mutation_p.R1801C|TUBGCP6_uc010has.1_RNA	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1809					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			ovary(2)|central_nervous_system(2)	4		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)														---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50717119	50717119	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50717119C>T	uc003bkv.3	-	29	4659	c.4553G>A	c.(4552-4554)CGT>CAT	p.R1518H	PLXNB2_uc003bkt.1_Missense_Mutation_p.R310H|PLXNB2_uc003bku.1_Missense_Mutation_p.R503H	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1518	Cytoplasmic (Potential).				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)														---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50720108	50720108	+	Missense_Mutation	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50720108A>G	uc003bkv.3	-	21	3515	c.3409T>C	c.(3409-3411)TGC>CGC	p.C1137R	PLXNB2_uc003bkt.1_5'UTR|PLXNB2_uc003bku.1_Missense_Mutation_p.C122R	NM_012401	NP_036533	O15031	PLXB2_HUMAN	plexin B2 precursor	1137	Extracellular (Potential).				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)														---	---	---	---
SAPS2	9701	broad.mit.edu	37	22	50877078	50877078	+	Missense_Mutation	SNP	G	A	A	rs148234883		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50877078G>A	uc003blb.1	+	20	2437	c.2015G>A	c.(2014-2016)CGT>CAT	p.R672H	SAPS2_uc003bky.1_Missense_Mutation_p.R645H|SAPS2_uc003bkz.1_Missense_Mutation_p.R645H|SAPS2_uc003blc.2_Missense_Mutation_p.R672H|SAPS2_uc003bla.1_Missense_Mutation_p.R646H|SAPS2_uc003bld.1_Missense_Mutation_p.R204H	NM_014678	NP_055493	O75170	PP6R2_HUMAN	SAPS domain family, member 2	672						cytoplasm|intracellular membrane-bounded organelle	protein binding				0		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;0.222)														---	---	---	---
CPT1B	1375	broad.mit.edu	37	22	51014750	51014750	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:51014750C>T	uc003bmk.3	-	5	738	c.576G>A	c.(574-576)GTG>GTA	p.V192V	CPT1B_uc003bml.2_Silent_p.V192V|CPT1B_uc003bmm.2_Silent_p.V192V|CPT1B_uc003bmo.2_Silent_p.V192V|CPT1B_uc011asa.1_Silent_p.V158V|CPT1B_uc003bmn.2_Silent_p.V192V|CPT1B_uc011asb.1_Silent_p.V192V|CHKB-CPT1B_uc003bmp.2_5'UTR	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B isoform a	192	Cytoplasmic (Potential).				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			ovary(1)|central_nervous_system(1)	2		all_cancers(38;8.8e-15)|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)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)												OREG0026685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---
CD99	4267	broad.mit.edu	37	X	2609862	2609862	+	Intron	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2609862G>T	uc004cqm.2	+						CD99_uc010nda.2_Intron|CD99_uc004cqn.2_Intron|CD99_uc004cqo.2_Intron	NM_002414	NP_002405			CD99 antigen isoform a precursor						cell adhesion	cytoplasm|integral to plasma membrane				skin(1)	1																		---	---	---	---
ARSE	415	broad.mit.edu	37	X	2867386	2867386	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:2867386C>T	uc004crc.3	-	6	1063	c.813G>A	c.(811-813)ACG>ACA	p.T271T	ARSE_uc011mhi.1_Silent_p.T217T|ARSE_uc011mhh.1_Silent_p.T296T	NM_000047	NP_000038	P51690	ARSE_HUMAN	arylsulfatase E precursor	271					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			ovary(1)|central_nervous_system(1)	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)																---	---	---	---
FAM9A	171482	broad.mit.edu	37	X	8766403	8766403	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:8766403G>A	uc004csg.2	-	4	449	c.338C>T	c.(337-339)ACG>ATG	p.T113M		NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	113						nucleolus					0		Hepatocellular(5;0.219)																---	---	---	---
FRMPD4	9758	broad.mit.edu	37	X	12708311	12708311	+	Intron	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12708311A>G	uc004cuz.1	+						FRMPD4_uc011mij.1_Intron	NM_014728	NP_055543			FERM and PDZ domain containing 4						positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1)	13																		---	---	---	---
GPM6B	2824	broad.mit.edu	37	X	13801529	13801529	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:13801529G>A	uc004cvz.2	-	3	651	c.360C>T	c.(358-360)CAC>CAT	p.H120H	GPM6B_uc004cvx.2_Silent_p.H101H|GPM6B_uc011min.1_Silent_p.H34H|GPM6B_uc004cwa.2_Silent_p.H101H|GPM6B_uc004cvw.2_Silent_p.H160H|GPM6B_uc011mim.1_Silent_p.H134H|GPM6B_uc004cvy.2_Silent_p.H160H	NM_005278	NP_005269	Q13491	GPM6B_HUMAN	glycoprotein M6B isoform 3	120					cell differentiation|nervous system development	integral to membrane					0																		---	---	---	---
RAI2	10742	broad.mit.edu	37	X	17818801	17818801	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17818801C>T	uc004cyf.2	-	3	1900	c.1330G>A	c.(1330-1332)GAA>AAA	p.E444K	RAI2_uc004cyg.2_Missense_Mutation_p.E444K|RAI2_uc010nfa.2_Missense_Mutation_p.E444K|RAI2_uc004cyh.3_Missense_Mutation_p.E444K|RAI2_uc011miy.1_Missense_Mutation_p.E394K	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	444					embryo development					ovary(1)|breast(1)	2	Hepatocellular(33;0.183)																	---	---	---	---
POLA1	5422	broad.mit.edu	37	X	24833131	24833131	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:24833131G>A	uc004dbl.2	+	30	3337	c.3314G>A	c.(3313-3315)CGG>CAG	p.R1105Q		NM_016937	NP_058633	P09884	DPOLA_HUMAN	DNA-directed DNA polymerase alpha 1	1105					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			ovary(2)|skin(1)	3					Clofarabine(DB00631)|Fludarabine(DB01073)													---	---	---	---
FAM47B	170062	broad.mit.edu	37	X	34961351	34961351	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34961351C>A	uc004ddi.1	+	1	421	c.403C>A	c.(403-405)CCC>ACC	p.P135T		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	135										ovary(3)|breast(1)	4																		---	---	---	---
CXorf22	170063	broad.mit.edu	37	X	35969308	35969308	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:35969308G>A	uc004ddj.2	+	5	776	c.717G>A	c.(715-717)CAG>CAA	p.Q239Q	CXorf22_uc010ngv.2_RNA	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	hypothetical protein LOC170063	239										large_intestine(1)|lung(1)|ovary(1)	3																		---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47040964	47040964	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47040964C>T	uc004dhf.2	+	14	1873	c.1494C>T	c.(1492-1494)CGC>CGT	p.R498R	RBM10_uc004dhg.2_Silent_p.R420R|RBM10_uc004dhh.2_Silent_p.R497R|RBM10_uc010nhq.2_Silent_p.R421R|RBM10_uc004dhi.2_Silent_p.R563R	NM_005676	NP_005667	P98175	RBM10_HUMAN	RNA binding motif protein 10 isoform 1	498					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			ovary(1)|large_intestine(1)|prostate(1)|breast(1)|pancreas(1)	5																		---	---	---	---
WAS	7454	broad.mit.edu	37	X	48547071	48547071	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48547071G>A	uc004dkm.3	+	10	1011	c.954G>A	c.(952-954)CCG>CCA	p.P318P		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	318	Poly-Pro.				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)						Mis|N|F|S			lymphoma			Wiskott-Aldrich_syndrome				---	---	---	---
GNL3L	54552	broad.mit.edu	37	X	54578159	54578159	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:54578159G>A	uc004dth.1	+	11	1161	c.1022G>A	c.(1021-1023)CGC>CAC	p.R341H	GNL3L_uc004dti.2_RNA	NM_019067	NP_061940	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3	341					ribosome biogenesis	nucleolus	GTP binding			ovary(1)	1																		---	---	---	---
FAM123B	139285	broad.mit.edu	37	X	63411093	63411093	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:63411093C>T	uc004dvo.2	-	2	2347	c.2074G>A	c.(2074-2076)GAG>AAG	p.E692K		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	692					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(40)		kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1)	112																		---	---	---	---
ZC4H2	55906	broad.mit.edu	37	X	64140025	64140025	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64140025G>A	uc004dvu.2	-	3	422	c.334C>T	c.(334-336)CGC>TGC	p.R112C	ZC4H2_uc004dvv.2_Missense_Mutation_p.R89C|ZC4H2_uc011mov.1_Missense_Mutation_p.R89C|ZC4H2_uc011mow.1_Missense_Mutation_p.R112C|ZC4H2_uc004dvw.1_Missense_Mutation_p.R112C	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	112							metal ion binding|protein binding			ovary(1)	1																		---	---	---	---
EDA	1896	broad.mit.edu	37	X	69243069	69243069	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69243069C>T	uc004dxs.2	+	3	746	c.504C>T	c.(502-504)GGC>GGT	p.G168G	EDA_uc004dxr.2_Silent_p.G168G|EDA_uc011mpj.1_Silent_p.G168G	NM_001399	NP_001390	Q92838	EDA_HUMAN	ectodysplasin A isoform EDA-A1	168	Extracellular (Potential).				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			ovary(2)|large_intestine(1)	3																		---	---	---	---
OTUD6A	139562	broad.mit.edu	37	X	69282415	69282415	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:69282415G>A	uc004dxu.1	+	1	75	c.41G>A	c.(40-42)CGC>CAC	p.R14H		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	14										lung(1)|skin(1)	2																		---	---	---	---
MED12	9968	broad.mit.edu	37	X	70360629	70360629	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70360629G>A	uc004dyy.2	+	42	6388	c.6189G>A	c.(6187-6189)CAG>CAA	p.Q2063Q	MED12_uc004dyz.2_Silent_p.Q2062Q|MED12_uc004dza.2_Silent_p.Q1913Q|MED12_uc010nla.2_Silent_p.Q692Q	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	2063	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)																	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70460933	70460933	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70460933C>T	uc004dzh.1	-	25	4033	c.3946G>A	c.(3946-3948)GAT>AAT	p.D1316N	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.D1316N|ZMYM3_uc004dzj.1_Missense_Mutation_p.D1304N	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	1316					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)																	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433309	72433309	+	Missense_Mutation	SNP	A	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:72433309A>T	uc004ebi.2	-	1	1376	c.1020T>A	c.(1018-1020)AAT>AAA	p.N340K	NAP1L2_uc011mqj.1_Missense_Mutation_p.N198K	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	340					nucleosome assembly	chromatin assembly complex				lung(1)	1	Renal(35;0.156)																	---	---	---	---
ARMCX6	54470	broad.mit.edu	37	X	100871578	100871578	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100871578C>T	uc004ehx.2	-	3	378	c.33G>A	c.(31-33)GCG>GCA	p.A11A	ARMCX6_uc004ehy.2_Silent_p.A11A	NM_019007	NP_061880	Q7L4S7	ARMX6_HUMAN	armadillo repeat containing, X-linked 6	11	Helical; (Potential).					integral to membrane					0																		---	---	---	---
ACSL4	2182	broad.mit.edu	37	X	108904809	108904809	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:108904809C>T	uc004eoi.2	-	15	2276	c.1771G>A	c.(1771-1773)GCA>ACA	p.A591T	ACSL4_uc004eoj.2_Missense_Mutation_p.A550T|ACSL4_uc004eok.2_Missense_Mutation_p.A550T	NM_022977	NP_075266	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	591	Cytoplasmic (Potential).				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			large_intestine(1)|lung(1)|ovary(1)	3					Icosapent(DB00159)|Troglitazone(DB00197)													---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110497632	110497632	+	Splice_Site	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:110497632C>T	uc004epc.1	-	3	334	c.166_splice	c.e3-1	p.D56_splice	CAPN6_uc011msu.1_Splice_Site	NM_014289	NP_055104			calpain 6						microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6																		---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118222370	118222370	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118222370G>A	uc004era.3	-	11	2823	c.2823C>T	c.(2821-2823)TCC>TCT	p.S941S		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	941										ovary(4)|skin(1)	5																		---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118222628	118222628	+	Silent	SNP	A	G	G			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118222628A>G	uc004era.3	-	11	2565	c.2565T>C	c.(2563-2565)AGT>AGC	p.S855S		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	hypothetical protein LOC57481	855										ovary(4)|skin(1)	5																		---	---	---	---
UBE2A	7319	broad.mit.edu	37	X	118715482	118715482	+	Missense_Mutation	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:118715482T>C	uc004erl.2	+	4	340	c.164T>C	c.(163-165)CTT>CCT	p.L55P	UBE2A_uc004erm.2_Intron|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA|UBE2A_uc004erp.2_5'UTR	NM_003336	NP_003327	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A isoform 1	55					histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity				0													Direct_reversal_of_damage|Rad6_pathway					---	---	---	---
RHOXF1	158800	broad.mit.edu	37	X	119243191	119243191	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119243191G>A	uc004esk.1	-	3	589	c.514C>T	c.(514-516)CGT>TGT	p.R172C	uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Rhox homeobox family, member 1	172					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119680456	119680456	+	Silent	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:119680456G>A	uc004esw.2	-	6	1283	c.846C>T	c.(844-846)AGC>AGT	p.S282S	CUL4B_uc010nqq.2_5'UTR|CUL4B_uc004esv.2_Silent_p.S264S	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	cullin 4B isoform 1	282					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			lung(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---
GPR119	139760	broad.mit.edu	37	X	129518496	129518496	+	Missense_Mutation	SNP	G	A	A	rs5975187	byFrequency;by1000genomes	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129518496G>A	uc011muv.1	-	1	926	c.926C>T	c.(925-927)TCG>TTG	p.S309L		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	309	Cytoplasmic (Potential).					integral to membrane|plasma membrane	lipid binding			ovary(2)	2																		---	---	---	---
GPR119	139760	broad.mit.edu	37	X	129518542	129518542	+	Missense_Mutation	SNP	C	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129518542C>A	uc011muv.1	-	1	880	c.880G>T	c.(880-882)GCC>TCC	p.A294S		NM_178471	NP_848566	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	294	Cytoplasmic (Potential).					integral to membrane|plasma membrane	lipid binding			ovary(2)	2																		---	---	---	---
FRMD7	90167	broad.mit.edu	37	X	131214290	131214290	+	Nonsense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:131214290G>A	uc004ewn.2	-	10	1088	c.910C>T	c.(910-912)CGA>TGA	p.R304*	FRMD7_uc011muy.1_Nonsense_Mutation_p.R289*	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	304					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
FHL1	2273	broad.mit.edu	37	X	135288662	135288662	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135288662G>A	uc004ezo.2	+	2	171	c.71G>A	c.(70-72)GGC>GAC	p.G24D	FHL1_uc010nrz.2_Missense_Mutation_p.G24D|FHL1_uc004ezm.2_RNA|FHL1_uc004ezl.2_Missense_Mutation_p.G24D|FHL1_uc004ezq.2_Missense_Mutation_p.G24D|FHL1_uc011mvy.1_Missense_Mutation_p.G24D|FHL1_uc011mvz.1_Missense_Mutation_p.G24D|FHL1_uc004ezn.2_Missense_Mutation_p.G24D|FHL1_uc011mwa.1_Missense_Mutation_p.G53D|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Missense_Mutation_p.G40D|FHL1_uc004ezr.2_5'Flank	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	four and a half LIM domains 1 isoform 1	24	C4-type (Potential).				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding				0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
ARHGEF6	9459	broad.mit.edu	37	X	135750258	135750258	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135750258C>T	uc004fab.2	-	22	2723	c.2261G>A	c.(2260-2262)CGG>CAG	p.R754Q	ARHGEF6_uc011mwd.1_Missense_Mutation_p.R627Q|ARHGEF6_uc011mwe.1_Missense_Mutation_p.R600Q	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	754					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---
SPANXN2	494119	broad.mit.edu	37	X	142795351	142795351	+	Silent	SNP	T	C	C			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:142795351T>C	uc004fbz.2	-	2	1081	c.327A>G	c.(325-327)TCA>TCG	p.S109S		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	SPANX-N2 protein	109										ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144905393	144905393	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:144905393C>T	uc004fcd.2	+	5	2440	c.1450C>T	c.(1450-1452)CGG>TGG	p.R484W	SLITRK2_uc010nsp.2_Missense_Mutation_p.R484W|SLITRK2_uc010nso.2_Missense_Mutation_p.R484W|SLITRK2_uc011mwq.1_Missense_Mutation_p.R484W|SLITRK2_uc011mwr.1_Missense_Mutation_p.R484W|SLITRK2_uc011mws.1_Missense_Mutation_p.R484W|SLITRK2_uc004fcg.2_Missense_Mutation_p.R484W|SLITRK2_uc011mwt.1_Missense_Mutation_p.R484W	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2 precursor	484	Extracellular (Potential).|LRR 11.					integral to membrane				ovary(5)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
AFF2	2334	broad.mit.edu	37	X	148044334	148044334	+	Missense_Mutation	SNP	G	A	A	rs140927355	byFrequency	TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:148044334G>A	uc004fcp.2	+	13	3259	c.2780G>A	c.(2779-2781)CGC>CAC	p.R927H	AFF2_uc004fcq.2_Missense_Mutation_p.R917H|AFF2_uc004fcr.2_Missense_Mutation_p.R888H|AFF2_uc011mxb.1_Missense_Mutation_p.R892H|AFF2_uc004fcs.2_Missense_Mutation_p.R894H|AFF2_uc011mxc.1_Missense_Mutation_p.R568H	NM_002025	NP_002016	P51816	AFF2_HUMAN	fragile X mental retardation 2	927					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			ovary(3)|pancreas(2)	5	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
GPR50	9248	broad.mit.edu	37	X	150348665	150348665	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150348665G>A	uc010ntg.1	+	2	745	c.610G>A	c.(610-612)GTG>ATG	p.V204M	uc004fes.1_5'Flank|GPR50_uc011myc.1_Missense_Mutation_p.V204M	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	204	Helical; Name=5; (Potential).				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150840827	150840827	+	Missense_Mutation	SNP	G	A	A	rs41302166		TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:150840827G>A	uc004fev.3	+	14	1942	c.1610G>A	c.(1609-1611)CGG>CAG	p.R537Q		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	PAS domain containing 1	537	Lys-rich.					nucleus	signal transducer activity			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
GABRA3	2556	broad.mit.edu	37	X	151336738	151336738	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151336738G>A	uc010ntk.1	-	10	1681	c.1441C>T	c.(1441-1443)CGG>TGG	p.R481W		NM_000808	NP_000799	P34903	GBRA3_HUMAN	gamma-aminobutyric acid A receptor, alpha 3	481					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			ovary(1)	1	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)													---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152137958	152137958	+	Missense_Mutation	SNP	G	A	A			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152137958G>A	uc010ntv.1	+	21	1938	c.1901G>A	c.(1900-1902)CGT>CAT	p.R634H	ZNF185_uc011myg.1_Missense_Mutation_p.R666H|ZNF185_uc011myh.1_Missense_Mutation_p.R637H|ZNF185_uc011myi.1_Missense_Mutation_p.R605H|ZNF185_uc011myj.1_Missense_Mutation_p.R575H|ZNF185_uc011myk.1_Missense_Mutation_p.R635H|ZNF185_uc004fgw.3_Missense_Mutation_p.R413H|ZNF185_uc004fgu.2_Missense_Mutation_p.R263H|ZNF185_uc004fgv.2_Missense_Mutation_p.R331H|ZNF185_uc004fgx.2_Missense_Mutation_p.R272H	NM_007150	NP_009081	O15231	ZN185_HUMAN	zinc finger protein 185	634	LIM zinc-binding.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			ovary(3)	3	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
HCFC1	3054	broad.mit.edu	37	X	153225598	153225598	+	Missense_Mutation	SNP	G	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153225598G>T	uc004fjp.2	-	8	1627	c.1099C>A	c.(1099-1101)CCA>ACA	p.P367T		NM_005334	NP_005325	P51610	HCFC1_HUMAN	host cell factor 1	367					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			ovary(2)	2	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---
TKTL1	8277	broad.mit.edu	37	X	153551557	153551557	+	Silent	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153551557C>T	uc004fkg.2	+	9	1377	c.1191C>T	c.(1189-1191)GAC>GAT	p.D397D	TKTL1_uc011mzl.1_Silent_p.D391D|TKTL1_uc011mzm.1_Silent_p.D193D|TKTL1_uc004fkh.2_Silent_p.D341D	NM_012253	NP_036385	P51854	TKTL1_HUMAN	transketolase-like 1 isoform a	397					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			ovary(3)|skin(1)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---
F8	2157	broad.mit.edu	37	X	154158281	154158281	+	Missense_Mutation	SNP	C	T	T			TCGA-CG-4460-01	TCGA-CG-4460-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154158281C>T	uc004fmt.2	-	14	3955	c.3784G>A	c.(3784-3786)GCA>ACA	p.A1262T		NM_000132	NP_000123	P00451	FA8_HUMAN	coagulation factor VIII isoform a precursor	1262	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)													---	---	---	---
