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	dataset	MUTSIG_Significant_Genes	type	classification	start	end	gene	chr	ref_allele	tum_allele1	tum_allele2	context_orig	context65	gene_name	newbase	categ	categ_ignoring_null_categ
GDF10	2662	broad.mit.edu	37	10	48429340	48429341	+	Missense_Mutation	DNP	GG	CT	CT			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:48429340_48429341GG>CT	uc001jfb.2	-	2	1001_1002	c.545_546CC>AG	c.(544-546)GCC>GAG	p.A182E	GDF10_uc009xnp.2_Missense_Mutation_p.A181E|GDF10_uc009xnq.1_Missense_Mutation_p.A182E	NM_004962	NP_004953	P55107	BMP3B_HUMAN	growth differentiation factor 10 precursor	182					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			lung(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	DNP	48429340	48429341	6579	10	GG	CT	CT	47	47	GDF10	CT	3	3
CTAGE1	64693	broad.mit.edu	37	18	19996472	19996473	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:19996472_19996473CC>AA	uc002ktv.1	-	1	1406_1407	c.1302_1303GG>TT	c.(1300-1305)TCGGCA>TCTTCA	p.A435S		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	435						integral to membrane				ovary(1)	1	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)																	---	---	---	---	capture		Missense_Mutation	DNP	19996472	19996473	4151	18	CC	AA	AA	26	26	CTAGE1	AA	2	2
LZTR1	8216	broad.mit.edu	37	22	21347115	21347116	+	Missense_Mutation	DNP	TG	CT	CT			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21347115_21347116TG>CT	uc002zto.2	+	11	1285_1286	c.1182_1183TG>CT	c.(1180-1185)GCTGTC>GCCTTC	p.V395F	LZTR1_uc002ztn.2_Missense_Mutation_p.V354F|LZTR1_uc011ahy.1_Missense_Mutation_p.V376F|LZTR1_uc010gsr.1_Missense_Mutation_p.V266F	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	395					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)															---	---	---	---	capture		Missense_Mutation	DNP	21347115	21347116	9514	22	TG	CT	CT	55	55	LZTR1	CT	4	4
PLXNA4	91584	broad.mit.edu	37	7	132192291	132192292	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:132192291_132192292CC>AA	uc003vra.3	-	2	1390_1391	c.1161_1162GG>TT	c.(1159-1164)AAGGTG>AATTTG	p.387_388KV>NL	PLXNA4_uc003vrc.2_Missense_Mutation_p.387_388KV>NL|PLXNA4_uc003vrb.2_Missense_Mutation_p.387_388KV>NL	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	plexin A4 isoform 1	387_388	Extracellular (Potential).|Sema.					integral to membrane|intracellular|plasma membrane				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	DNP	132192291	132192292	12548	7	CC	AA	AA	18	18	PLXNA4	AA	2	2
CSMD3	114788	broad.mit.edu	37	8	113301700	113301700	+	Frame_Shift_Del	DEL	C	-	-			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113301700delC	uc003ynu.2	-	57	9201	c.9042delG	c.(9040-9042)GGGfs	p.G3014fs	CSMD3_uc003yns.2_Frame_Shift_Del_p.G2216fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.G2974fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.G2845fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3014	Sushi 21.|Extracellular (Potential).					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)			---	---	---	---	capture_indel		Frame_Shift_Del	DEL	113301700	113301700	4087	8	C	-	-	18	18	CSMD3	-	5	5
SLC35E2	9906	broad.mit.edu	37	1	1666215	1666215	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1666215C>A	uc001aib.1	-	5	1062	c.646G>T	c.(646-648)GCT>TCT	p.A216S	SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|SLC35E2_uc001ahy.2_Missense_Mutation_p.A216S|SLC35E2_uc001ahz.2_Missense_Mutation_p.A216S	NM_182838	NP_878258	P0CK97	S35E2_HUMAN	solute carrier family 35, member E2	216						integral to membrane				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;5.61e-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;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)														---	---	---	---	capture		Missense_Mutation	SNP	1666215	1666215	15082	1	C	A	A	25	25	SLC35E2	A	2	2
NPHP4	261734	broad.mit.edu	37	1	5964865	5964865	+	Splice_Site	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:5964865C>A	uc001alq.1	-	16	2222	c.1956_splice	c.e16-1	p.R652_splice	NPHP4_uc001als.1_Splice_Site|NPHP4_uc009vlt.1_Splice_Site|NPHP4_uc001alt.1_Splice_Site|NPHP4_uc009vlu.1_Splice_Site	NM_015102	NP_055917			nephroretinin						actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			pancreas(1)	1	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Splice_Site	SNP	5964865	5964865	10985	1	C	A	A	32	32	NPHP4	A	5	2
RNF207	388591	broad.mit.edu	37	1	6272764	6272764	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6272764G>C	uc001amg.2	+	15	1679	c.1505G>C	c.(1504-1506)CGA>CCA	p.R502P	RNF207_uc010nzp.1_RNA	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	ring finger protein 207	502	Potential.					intracellular	zinc ion binding				0	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-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;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|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;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)														---	---	---	---	capture		Missense_Mutation	SNP	6272764	6272764	13952	1	G	C	C	37	37	RNF207	C	3	3
SPATA21	374955	broad.mit.edu	37	1	16748415	16748415	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16748415G>C	uc001ayn.2	-	4	569	c.86C>G	c.(85-87)GCA>GGA	p.A29G	SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Intron	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	29							calcium ion binding			ovary(2)|breast(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)														---	---	---	---	capture		Missense_Mutation	SNP	16748415	16748415	15515	1	G	C	C	46	46	SPATA21	C	3	3
NBPF1	55672	broad.mit.edu	37	1	16902793	16902793	+	Silent	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16902793C>A	uc009vos.1	-	19	2976	c.2088G>T	c.(2086-2088)CTG>CTT	p.L696L	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Silent_p.L154L|NBPF1_uc010oce.1_Silent_p.L425L	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	hypothetical protein LOC55672	696						cytoplasm					0				UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)														---	---	---	---	capture		Silent	SNP	16902793	16902793	10588	1	C	A	A	21	21	NBPF1	A	2	2
HSPG2	3339	broad.mit.edu	37	1	22165442	22165442	+	Silent	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22165442C>T	uc001bfj.2	-	74	10066	c.10026G>A	c.(10024-10026)AGG>AGA	p.R3342R	HSPG2_uc009vqd.2_Silent_p.R3343R	NM_005529	NP_005520	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2 precursor	3342	Ig-like C2-type 19.				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)													---	---	---	---	capture		Silent	SNP	22165442	22165442	7730	1	C	T	T	22	22	HSPG2	T	2	2
LAPTM5	7805	broad.mit.edu	37	1	31206716	31206716	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:31206716G>T	uc001bsc.2	-	8	839	c.748C>A	c.(748-750)CCA>ACA	p.P250T		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	250	Pro-rich.				transport	integral to plasma membrane|lysosomal membrane					0		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Missense_Mutation	SNP	31206716	31206716	8949	1	G	T	T	43	43	LAPTM5	T	2	2
CCDC28B	79140	broad.mit.edu	37	1	32669966	32669966	+	Nonsense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32669966C>T	uc001bul.1	+	4	643	c.511C>T	c.(511-513)CAG>TAG	p.Q171*	CCDC28B_uc001buk.2_Nonsense_Mutation_p.Q171*|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	171	Potential.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)																---	---	---	---	capture		Nonsense_Mutation	SNP	32669966	32669966	2925	1	C	T	T	21	21	CCDC28B	T	5	2
ZNF362	149076	broad.mit.edu	37	1	33745931	33745931	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33745931G>T	uc001bxc.1	+	5	726	c.556G>T	c.(556-558)GGC>TGC	p.G186C		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)																---	---	---	---	capture		Missense_Mutation	SNP	33745931	33745931	18460	1	G	T	T	47	47	ZNF362	T	2	2
C1orf94	84970	broad.mit.edu	37	1	34663142	34663142	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:34663142G>T	uc001bxs.3	+	2	466	c.67G>T	c.(67-69)GCC>TCC	p.A23S	C1orf94_uc001bxt.2_Missense_Mutation_p.A213S	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN	hypothetical protein LOC84970 isoform b	23							protein binding				0		Myeloproliferative disorder(586;0.0393)																---	---	---	---	capture		Missense_Mutation	SNP	34663142	34663142	2147	1	G	T	T	46	46	C1orf94	T	2	2
GJB4	127534	broad.mit.edu	37	1	35226920	35226920	+	Missense_Mutation	SNP	G	T	T	rs80358212		TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35226920G>T	uc001bxv.1	+	2	435	c.65G>T	c.(64-66)CGC>CTC	p.R22L	GJB4_uc001bxw.3_Missense_Mutation_p.R22L	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4	22	Helical; (Potential).				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)																---	---	---	---	capture		Missense_Mutation	SNP	35226920	35226920	6678	1	G	T	T	38	38	GJB4	T	1	1
TIE1	7075	broad.mit.edu	37	1	43775071	43775071	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43775071A>T	uc001ciu.2	+	9	1280	c.1201A>T	c.(1201-1203)ATT>TTT	p.I401F	TIE1_uc010okd.1_Missense_Mutation_p.I401F|TIE1_uc010oke.1_Missense_Mutation_p.I356F|TIE1_uc009vwq.2_Missense_Mutation_p.I357F|TIE1_uc010okf.1_Missense_Mutation_p.I46F|TIE1_uc010okg.1_Missense_Mutation_p.I46F|TIE1_uc010okc.1_Missense_Mutation_p.H309L	NM_005424	NP_005415	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and	401	Ig-like C2-type 2.|Extracellular (Potential).				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---	capture		Missense_Mutation	SNP	43775071	43775071	16421	1	A	T	T	8	8	TIE1	T	4	4
EPS15	2060	broad.mit.edu	37	1	51912683	51912683	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:51912683C>A	uc001csq.1	-	10	838	c.746G>T	c.(745-747)CGT>CTT	p.R249L	EPS15_uc009vyz.1_Missense_Mutation_p.R249L	NM_001981	NP_001972	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway	249	EH 3.|EF-hand 2.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding			lung(1)|kidney(1)	2								T	MLL	ALL								---	---	---	---	capture		Missense_Mutation	SNP	51912683	51912683	5385	1	C	A	A	19	19	EPS15	A	1	1
USP24	23358	broad.mit.edu	37	1	55563371	55563371	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:55563371G>C	uc001cyg.3	-	45	5135	c.5135C>G	c.(5134-5136)ACC>AGC	p.T1712S		NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	ubiquitin specific protease 24	1872					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			ovary(6)|kidney(6)|breast(1)	13																		---	---	---	---	capture		Missense_Mutation	SNP	55563371	55563371	17618	1	G	C	C	44	44	USP24	C	3	3
SGIP1	84251	broad.mit.edu	37	1	67147845	67147845	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:67147845G>T	uc001dcr.2	+	15	1325	c.1108G>T	c.(1108-1110)GTA>TTA	p.V370L	SGIP1_uc010opd.1_Intron|SGIP1_uc001dcs.2_Intron|SGIP1_uc001dct.2_Intron|SGIP1_uc009wat.2_Missense_Mutation_p.V137L	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	370	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	67147845	67147845	14697	1	G	T	T	48	48	SGIP1	T	2	2
ZZZ3	26009	broad.mit.edu	37	1	78097596	78097596	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78097596C>A	uc001dhq.2	-	5	1920	c.1444G>T	c.(1444-1446)GAT>TAT	p.D482Y	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.D482Y|ZZZ3_uc001dhp.2_Missense_Mutation_p.D482Y	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	78097596	78097596	18862	1	C	A	A	32	32	ZZZ3	A	2	2
EPHX4	253152	broad.mit.edu	37	1	92528829	92528829	+	Missense_Mutation	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:92528829A>G	uc001don.2	+	7	1179	c.1075A>G	c.(1075-1077)AGA>GGA	p.R359G		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	abhydrolase domain containing 7	359						integral to membrane	hydrolase activity			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	92528829	92528829	5375	1	A	G	G	3	3	EPHX4	G	4	4
ABCA4	24	broad.mit.edu	37	1	94463498	94463498	+	Silent	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:94463498C>T	uc001dqh.2	-	48	6752	c.6648G>A	c.(6646-6648)GCG>GCA	p.A2216A		NM_000350	NP_000341	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A member 4	2216	Cytoplasmic.		A -> V.		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)														---	---	---	---	capture		Silent	SNP	94463498	94463498	35	1	C	T	T	31	31	ABCA4	T	1	1
ZNF687	57592	broad.mit.edu	37	1	151262644	151262644	+	Missense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151262644C>T	uc001exq.2	+	7	3109	c.3011C>T	c.(3010-3012)TCC>TTC	p.S1004F	ZNF687_uc009wmo.2_Missense_Mutation_p.S1004F|ZNF687_uc009wmp.2_Missense_Mutation_p.S1004F	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	1004	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			central_nervous_system(3)|ovary(1)	4	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)															---	---	---	---	capture		Missense_Mutation	SNP	151262644	151262644	18687	1	C	T	T	30	30	ZNF687	T	2	2
LCE2B	26239	broad.mit.edu	37	1	152659545	152659545	+	Missense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152659545C>T	uc001fai.2	+	2	280	c.226C>T	c.(226-228)CAC>TAC	p.H76Y		NM_014357	NP_055172	O14633	LCE2B_HUMAN	late cornified envelope 2B	76	Cys-rich.				keratinization					ovary(1)|skin(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---	capture		Missense_Mutation	SNP	152659545	152659545	8989	1	C	T	T	21	21	LCE2B	T	2	2
IQGAP3	128239	broad.mit.edu	37	1	156521502	156521502	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156521502C>A	uc001fpf.2	-	15	1804	c.1729G>T	c.(1729-1731)GCC>TCC	p.A577S	IQGAP3_uc009wsb.1_Missense_Mutation_p.A534S	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	577					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)																	---	---	---	---	capture		Missense_Mutation	SNP	156521502	156521502	8119	1	C	A	A	26	26	IQGAP3	A	2	2
SLAMF7	57823	broad.mit.edu	37	1	160719865	160719865	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160719865G>T	uc001fwq.2	+	3	646	c.631G>T	c.(631-633)GCC>TCC	p.A211S	SLAMF7_uc010pjn.1_Missense_Mutation_p.A104S|SLAMF7_uc001fws.2_Missense_Mutation_p.A104S|SLAMF7_uc001fwr.2_Missense_Mutation_p.A211S|SLAMF7_uc010pjo.1_Intron|SLAMF7_uc010pjp.1_Missense_Mutation_p.A104S|SLAMF7_uc010pjq.1_Intron|SLAMF7_uc010pjr.1_Missense_Mutation_p.A104S	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	211	Extracellular (Potential).				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			skin(2)|ovary(1)	3	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)															---	---	---	---	capture		Missense_Mutation	SNP	160719865	160719865	14864	1	G	T	T	46	46	SLAMF7	T	2	2
F11R	50848	broad.mit.edu	37	1	160990843	160990843	+	Silent	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160990843G>C	uc009wtt.2	-	1	291	c.21C>G	c.(19-21)GTC>GTG	p.V7V	F11R_uc010pjv.1_Silent_p.V7V|F11R_uc001fxe.3_Silent_p.V7V|F11R_uc009wtu.2_Silent_p.V7V|F11R_uc010pjw.1_Intron|F11R_uc001fxf.3_Silent_p.V7V	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	F11 receptor precursor	7					blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				ovary(2)	2	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)															---	---	---	---	capture		Silent	SNP	160990843	160990843	5532	1	G	C	C	37	37	F11R	C	3	3
ARHGAP30	257106	broad.mit.edu	37	1	161022516	161022516	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161022516G>T	uc001fxl.2	-	7	1082	c.736C>A	c.(736-738)CCC>ACC	p.P246T	ARHGAP30_uc001fxk.2_Missense_Mutation_p.P246T|ARHGAP30_uc001fxm.2_Missense_Mutation_p.P92T|ARHGAP30_uc009wtx.2_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.P92T	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30 isoform 1	246					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)															---	---	---	---	capture		Missense_Mutation	SNP	161022516	161022516	891	1	G	T	T	42	42	ARHGAP30	T	2	2
ASTN1	460	broad.mit.edu	37	1	176905450	176905450	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176905450G>A	uc001glc.2	-	15	2646	c.2434C>T	c.(2434-2436)CGG>TGG	p.R812W	ASTN1_uc001glb.1_Missense_Mutation_p.R812W|ASTN1_uc001gld.1_Missense_Mutation_p.R812W|ASTN1_uc009wwx.1_Missense_Mutation_p.R812W	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	820					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15																		---	---	---	---	capture		Missense_Mutation	SNP	176905450	176905450	1083	1	G	A	A	39	39	ASTN1	A	1	1
SEC16B	89866	broad.mit.edu	37	1	177902716	177902716	+	Missense_Mutation	SNP	T	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:177902716T>C	uc001gli.1	-	21	2717	c.2627A>G	c.(2626-2628)AAG>AGG	p.K876R	SEC16B_uc001glk.1_Missense_Mutation_p.K553R|SEC16B_uc009wwy.1_Missense_Mutation_p.K431R|SEC16B_uc001glh.1_Missense_Mutation_p.K535R|SEC16B_uc009wwz.1_Missense_Mutation_p.K535R|SEC16B_uc001glj.1_Missense_Mutation_p.K877R	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	leucine zipper transcription regulator 2	876					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				ovary(3)|central_nervous_system(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	177902716	177902716	14473	1	T	C	C	56	56	SEC16B	C	4	4
CDC73	79577	broad.mit.edu	37	1	193099325	193099325	+	Nonsense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:193099325A>T	uc001gtb.2	+	3	502	c.259A>T	c.(259-261)AGA>TGA	p.R87*		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	parafibromin	87					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				---	---	---	---	capture		Nonsense_Mutation	SNP	193099325	193099325	3214	1	A	T	T	15	15	CDC73	T	5	4
ELF3	1999	broad.mit.edu	37	1	201983144	201983144	+	Silent	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:201983144G>A	uc001gxg.3	+	7	4185	c.993G>A	c.(991-993)CGG>CGA	p.R331R	ELF3_uc001gxi.3_Silent_p.R331R|ELF3_uc001gxh.3_Silent_p.R331R	NM_004433	NP_004424	P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription	331	ETS.				epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity				0																		---	---	---	---	capture		Silent	SNP	201983144	201983144	5246	1	G	A	A	43	43	ELF3	A	2	2
FMOD	2331	broad.mit.edu	37	1	203317314	203317314	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:203317314G>A	uc001gzr.2	-	2	221	c.85C>T	c.(85-87)CAC>TAC	p.H29Y	FMOD_uc010pqi.1_RNA	NM_002023	NP_002014	Q06828	FMOD_HUMAN	fibromodulin precursor	29					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				ovary(2)|breast(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.171)															---	---	---	---	capture		Missense_Mutation	SNP	203317314	203317314	6201	1	G	A	A	47	47	FMOD	A	2	2
MIA3	375056	broad.mit.edu	37	1	222802777	222802777	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:222802777G>T	uc001hnl.2	+	4	2224	c.2215G>T	c.(2215-2217)GCA>TCA	p.A739S	MIA3_uc009xea.1_Missense_Mutation_p.A575S	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	739	Extracellular (Potential).				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)														---	---	---	---	capture		Missense_Mutation	SNP	222802777	222802777	9955	1	G	T	T	46	46	MIA3	T	2	2
NVL	4931	broad.mit.edu	37	1	224475681	224475681	+	Silent	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:224475681C>T	uc001hok.2	-	14	1633	c.1590G>A	c.(1588-1590)AGG>AGA	p.R530R	NVL_uc001hol.2_Silent_p.R424R|NVL_uc010pvd.1_Silent_p.R439R|NVL_uc010pve.1_Silent_p.R341R|NVL_uc010pvf.1_RNA	NM_002533	NP_002524	O15381	NVL_HUMAN	nuclear VCP-like isoform 1	530						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			skin(2)	2				GBM - Glioblastoma multiforme(131;0.00501)														---	---	---	---	capture		Silent	SNP	224475681	224475681	11185	1	C	T	T	26	26	NVL	T	2	2
NUP133	55746	broad.mit.edu	37	1	229619809	229619809	+	Missense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229619809T>A	uc001htn.2	-	12	1676	c.1584A>T	c.(1582-1584)CAA>CAT	p.Q528H		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	528					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)																---	---	---	---	capture		Missense_Mutation	SNP	229619809	229619809	11159	1	T	A	A	52	52	NUP133	A	4	4
WDR64	128025	broad.mit.edu	37	1	241901755	241901755	+	Missense_Mutation	SNP	A	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:241901755A>C	uc001hze.1	+	10	1462	c.1255A>C	c.(1255-1257)ATG>CTG	p.M419L	WDR64_uc001hzf.1_Missense_Mutation_p.M139L			B1ANS9	WDR64_HUMAN	RecName: Full=WD repeat-containing protein 64;	419	WD 5.									skin(1)	1	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)															---	---	---	---	capture		Missense_Mutation	SNP	241901755	241901755	17888	1	A	C	C	16	16	WDR64	C	4	4
MAP1LC3C	440738	broad.mit.edu	37	1	242159509	242159509	+	Missense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242159509T>A	uc001hzk.2	-	4	475	c.400A>T	c.(400-402)AGG>TGG	p.R134W		NM_001004343	NP_001004343	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3	134					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(106;0.0188)															---	---	---	---	capture		Missense_Mutation	SNP	242159509	242159509	9616	1	T	A	A	55	55	MAP1LC3C	A	4	4
OR2T33	391195	broad.mit.edu	37	1	248436938	248436938	+	Missense_Mutation	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248436938A>G	uc010pzi.1	-	1	179	c.179T>C	c.(178-180)CTC>CCC	p.L60P		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T,	60	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|ovary(1)	2	all_cancers(71;0.000124)|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;0.0245)															---	---	---	---	capture		Missense_Mutation	SNP	248436938	248436938	11430	1	A	G	G	11	11	OR2T33	G	4	4
OR2T11	127077	broad.mit.edu	37	1	248789591	248789591	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248789591G>A	uc001ier.1	-	1	839	c.839C>T	c.(838-840)CCC>CTC	p.P280L		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T,	280	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(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)															---	---	---	---	capture		Missense_Mutation	SNP	248789591	248789591	11424	1	G	A	A	43	43	OR2T11	A	2	2
SFMBT2	57713	broad.mit.edu	37	10	7262489	7262489	+	Missense_Mutation	SNP	C	A	A	rs144518591		TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:7262489C>A	uc009xio.1	-	11	1305	c.1214G>T	c.(1213-1215)AGT>ATT	p.S405I	SFMBT2_uc001ijn.1_Missense_Mutation_p.S405I|SFMBT2_uc010qay.1_Intron	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	405	MBT 4.				regulation of transcription, DNA-dependent	nucleus				ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	7262489	7262489	14647	10	C	A	A	20	20	SFMBT2	A	2	2
CUBN	8029	broad.mit.edu	37	10	16942801	16942801	+	Missense_Mutation	SNP	C	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:16942801C>G	uc001ioo.2	-	53	8285	c.8233G>C	c.(8233-8235)GAC>CAC	p.D2745H	CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.D101H	NM_001081	NP_001072	O60494	CUBN_HUMAN	cubilin precursor	2745	CUB 20.				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)													---	---	---	---	capture		Missense_Mutation	SNP	16942801	16942801	4211	10	C	G	G	30	30	CUBN	G	3	3
CUL2	8453	broad.mit.edu	37	10	35333790	35333790	+	Silent	SNP	A	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:35333790A>C	uc001ixv.2	-	7	723	c.513T>G	c.(511-513)CGT>CGG	p.R171R	CUL2_uc009xma.2_Silent_p.R40R|CUL2_uc010qer.1_Silent_p.R190R|CUL2_uc001ixw.2_Silent_p.R171R|CUL2_uc010qes.1_Silent_p.R108R	NM_003591	NP_003582	Q13617	CUL2_HUMAN	cullin 2	171					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			ovary(3)	3																		---	---	---	---	capture		Silent	SNP	35333790	35333790	4215	10	A	C	C	6	6	CUL2	C	4	4
ANKRD30A	91074	broad.mit.edu	37	10	37422844	37422844	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:37422844C>A	uc001iza.1	+	5	549	c.450C>A	c.(448-450)TGC>TGA	p.C150*		NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	206	ANK 5.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(7)|breast(1)|skin(1)	9																		---	---	---	---	capture		Nonsense_Mutation	SNP	37422844	37422844	663	10	C	A	A	25	25	ANKRD30A	A	5	2
MSMB	4477	broad.mit.edu	37	10	51556783	51556783	+	Missense_Mutation	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:51556783A>G	uc001jiq.2	+	3	174	c.142A>G	c.(142-144)ATA>GTA	p.I48V	PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron|MSMB_uc001jir.2_Intron	NM_002443	NP_002434	P08118	MSMB_HUMAN	beta-microseminoprotein isoform a precursor	48						extracellular space|nucleus				ovary(2)	2														Hereditary_Prostate_Cancer				---	---	---	---	capture		Missense_Mutation	SNP	51556783	51556783	10276	10	A	G	G	4	4	MSMB	G	4	4
PCDH15	65217	broad.mit.edu	37	10	55568916	55568916	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:55568916A>T	uc010qhs.1	-	37	5304	c.4909T>A	c.(4909-4911)TCT>ACT	p.S1637T	PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.S1630T|PCDH15_uc010qhu.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	protocadherin 15 isoform CD2-1 precursor	Error:Variant_position_missing_in_Q96QU1_after_alignment					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)			---	---	---	---	capture		Missense_Mutation	SNP	55568916	55568916	11931	10	A	T	T	11	11	PCDH15	T	4	4
KCNMA1	3778	broad.mit.edu	37	10	78713682	78713682	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:78713682C>A	uc001jxn.2	-	21	2538	c.2361G>T	c.(2359-2361)AGG>AGT	p.R787S	KCNMA1_uc001jxj.2_Missense_Mutation_p.R733S|KCNMA1_uc001jxk.1_Missense_Mutation_p.R405S|KCNMA1_uc009xrt.1_Missense_Mutation_p.R578S|KCNMA1_uc001jxl.1_Missense_Mutation_p.R412S|KCNMA1_uc001jxo.2_Missense_Mutation_p.R729S|KCNMA1_uc001jxm.2_Missense_Mutation_p.R729S|KCNMA1_uc001jxq.2_Missense_Mutation_p.R732S	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	large conductance calcium-activated potassium	787	Cytoplasmic (Potential).				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			pancreas(2)|ovary(1)	3	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)													---	---	---	---	capture		Missense_Mutation	SNP	78713682	78713682	8378	10	C	A	A	26	26	KCNMA1	A	2	2
PTEN	5728	broad.mit.edu	37	10	89711893	89711893	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89711893C>A	uc001kfb.2	+	7	1542	c.511C>A	c.(511-513)CAG>AAG	p.Q171K		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	171	Phosphatase tensin-type.			Q->A,E: 75% reduction in phosphatase activity towards PtdIns(3,4,5)P3.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Q171*(9)|p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.Y27_N212>Y(2)|p.Q171P(2)|p.Y27fs*1(2)|p.Q171E(2)|p.V166fs*10(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.Q171H(1)|p.S170fs*8(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)			31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	89711893	89711893	13192	10	C	A	A	29	29	PTEN	A	2	2
CYP17A1	1586	broad.mit.edu	37	10	104590602	104590602	+	Missense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:104590602T>A	uc001kwg.2	-	8	1556	c.1384A>T	c.(1384-1386)AGG>TGG	p.R462W	C10orf26_uc009xxg.1_RNA	NM_000102	NP_000093	P05093	CP17A_HUMAN	cytochrome P450, family 17	462					androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity				0		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	NADH(DB00157)|Progesterone(DB00396)													---	---	---	---	capture		Missense_Mutation	SNP	104590602	104590602	4312	10	T	A	A	54	54	CYP17A1	A	4	4
NRAP	4892	broad.mit.edu	37	10	115412757	115412757	+	Silent	SNP	G	A	A	rs138386465		TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115412757G>A	uc001laj.2	-	6	671	c.507C>T	c.(505-507)AGC>AGT	p.S169S	NRAP_uc001lak.2_Silent_p.S169S|NRAP_uc001lal.3_Silent_p.S169S	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	169						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.S169R(1)		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)														---	---	---	---	capture		Silent	SNP	115412757	115412757	11043	10	G	A	A	34	34	NRAP	A	2	2
EBF3	253738	broad.mit.edu	37	10	131757215	131757215	+	Silent	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:131757215G>C	uc001lki.1	-	5	527	c.468C>G	c.(466-468)ACC>ACG	p.T156T		NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	156	C5-type (Potential).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)														---	---	---	---	capture		Silent	SNP	131757215	131757215	5068	10	G	C	C	43	43	EBF3	C	3	3
EBF3	253738	broad.mit.edu	37	10	131761760	131761760	+	Silent	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:131761760G>A	uc001lki.1	-	2	221	c.162C>T	c.(160-162)TTC>TTT	p.F54F	EBF3_uc010qur.1_Silent_p.F40F	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	early B-cell factor 3	54					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|pancreas(1)	2		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)														---	---	---	---	capture		Silent	SNP	131761760	131761760	5068	10	G	A	A	37	37	EBF3	A	1	1
TH	7054	broad.mit.edu	37	11	2190926	2190926	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:2190926C>A	uc001lvq.2	-	3	378	c.359G>T	c.(358-360)AGG>ATG	p.R120M	TH_uc001lvp.2_Missense_Mutation_p.R116M|TH_uc001lvr.2_Missense_Mutation_p.R89M|TH_uc010qxj.1_Missense_Mutation_p.R93M|TH_uc001lvs.2_Missense_Mutation_p.R89M|TH_uc001lvt.2_Missense_Mutation_p.R93M|TH_uc009ydh.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	tyrosine hydroxylase isoform a	120					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity				0		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)													---	---	---	---	capture		Missense_Mutation	SNP	2190926	2190926	16366	11	C	A	A	24	24	TH	A	2	2
OR51T1	401665	broad.mit.edu	37	11	4903764	4903764	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4903764A>T	uc010qyp.1	+	1	716	c.716A>T	c.(715-717)GAC>GTC	p.D239V		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T,	212	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|large_intestine(1)	3		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	4903764	4903764	11516	11	A	T	T	10	10	OR51T1	T	4	4
OR56A3	390083	broad.mit.edu	37	11	5968758	5968758	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5968758A>T	uc010qzt.1	+	1	182	c.182A>T	c.(181-183)CAG>CTG	p.Q61L		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	61	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	5968758	5968758	11544	11	A	T	T	7	7	OR56A3	T	4	4
ANO5	203859	broad.mit.edu	37	11	22257761	22257761	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:22257761G>A	uc001mqi.2	+	8	1018	c.701G>A	c.(700-702)AGG>AAG	p.R234K	ANO5_uc001mqj.2_Missense_Mutation_p.R233K	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	anoctamin 5 isoform a	234	Cytoplasmic (Potential).					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			central_nervous_system(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	22257761	22257761	708	11	G	A	A	35	35	ANO5	A	2	2
ACCSL	390110	broad.mit.edu	37	11	44072153	44072153	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:44072153G>A	uc001mxw.1	+	3	672	c.616G>A	c.(616-618)GAT>AAT	p.D206N	ACCSL_uc009ykr.2_Missense_Mutation_p.D25N	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase	206							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			ovary(5)	5																		---	---	---	---	capture		Missense_Mutation	SNP	44072153	44072153	135	11	G	A	A	45	45	ACCSL	A	2	2
OR4C12	283093	broad.mit.edu	37	11	50003673	50003673	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:50003673A>T	uc010ria.1	-	1	365	c.365T>A	c.(364-366)GTG>GAG	p.V122E		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C,	122	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	50003673	50003673	11452	11	A	T	T	6	6	OR4C12	T	4	4
OR4C15	81309	broad.mit.edu	37	11	55322725	55322725	+	Missense_Mutation	SNP	C	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55322725C>G	uc010rig.1	+	1	943	c.943C>G	c.(943-945)CCA>GCA	p.P315A		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C,	261	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2															HNSCC(20;0.049)			---	---	---	---	capture		Missense_Mutation	SNP	55322725	55322725	11454	11	C	G	G	30	30	OR4C15	G	3	3
OR5D14	219436	broad.mit.edu	37	11	55563693	55563693	+	Missense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55563693T>A	uc010rim.1	+	1	662	c.662T>A	c.(661-663)GTT>GAT	p.V221D		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D,	221	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3		all_epithelial(135;0.196)																---	---	---	---	capture		Missense_Mutation	SNP	55563693	55563693	11565	11	T	A	A	60	60	OR5D14	A	4	4
OR8K5	219453	broad.mit.edu	37	11	55927656	55927656	+	Silent	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55927656G>A	uc010rja.1	-	1	138	c.138C>T	c.(136-138)ATC>ATT	p.I46I		NM_001004058	NP_001004058	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|pancreas(1)|skin(1)	4	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)																---	---	---	---	capture		Silent	SNP	55927656	55927656	11656	11	G	A	A	45	45	OR8K5	A	2	2
OR9G9	504191	broad.mit.edu	37	11	56468292	56468292	+	Silent	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56468292G>A	uc010rjn.1	+	1	429	c.429G>A	c.(427-429)CTG>CTA	p.L143L		NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN	olfactory receptor, family 9, subfamily G,	143	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Silent	SNP	56468292	56468292	11663	11	G	A	A	47	47	OR9G9	A	2	2
LPXN	9404	broad.mit.edu	37	11	58294964	58294964	+	Missense_Mutation	SNP	T	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58294964T>C	uc001nmw.2	-	9	1269	c.1124A>G	c.(1123-1125)TAT>TGT	p.Y375C	LPXN_uc009ymp.2_Missense_Mutation_p.Y245C|LPXN_uc010rkj.1_Missense_Mutation_p.Y380C|LPXN_uc010rkk.1_Missense_Mutation_p.Y355C	NM_004811	NP_004802	O60711	LPXN_HUMAN	leupaxin isoform 2	375	LIM zinc-binding 4.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			ovary(1)	1		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)																---	---	---	---	capture		Missense_Mutation	SNP	58294964	58294964	9302	11	T	C	C	49	49	LPXN	C	4	4
GLYATL1	92292	broad.mit.edu	37	11	58723225	58723225	+	Missense_Mutation	SNP	G	T	T	rs139684537		TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:58723225G>T	uc001nnf.2	+	8	1010	c.634G>T	c.(634-636)GGC>TGC	p.G212C	uc001nng.1_Intron|GLYATL1_uc001nnh.1_Missense_Mutation_p.G243C|GLYATL1_uc001nni.1_Missense_Mutation_p.G212C|GLYATL1_uc001nnj.1_Missense_Mutation_p.G212C			Q969I3	GLYL1_HUMAN	SubName: Full=Glycine acyltransferase family-C; SubName: Full=Glycine-N-acyltransferase-like 1, isoform CRA_a;	212						mitochondrion	glycine N-acyltransferase activity			ovary(1)	1					Glycine(DB00145)													---	---	---	---	capture		Missense_Mutation	SNP	58723225	58723225	6748	11	G	T	T	39	39	GLYATL1	T	1	1
MS4A3	932	broad.mit.edu	37	11	59837686	59837686	+	Missense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:59837686T>A	uc001nom.2	+	7	753	c.625T>A	c.(625-627)TCA>ACA	p.S209T	MS4A3_uc001non.2_Missense_Mutation_p.S163T|MS4A3_uc001noo.2_Missense_Mutation_p.S86T	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member	209	Cytoplasmic (Potential).					endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			ovary(2)|skin(1)	3		all_epithelial(135;0.245)																---	---	---	---	capture		Missense_Mutation	SNP	59837686	59837686	10254	11	T	A	A	54	54	MS4A3	A	4	4
C11orf9	745	broad.mit.edu	37	11	61539172	61539172	+	Missense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61539172T>A	uc001nsc.1	+	6	1037	c.941T>A	c.(940-942)ATT>AAT	p.I314N	C11orf9_uc001nse.1_Missense_Mutation_p.I305N	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	myelin gene regulatory factor isoform 2	314	NDT80.|Pro-rich.				central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	61539172	61539172	1711	11	T	A	A	52	52	C11orf9	A	4	4
TUT1	64852	broad.mit.edu	37	11	62342867	62342867	+	Nonsense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62342867C>T	uc001nto.2	-	9	2476	c.2438G>A	c.(2437-2439)TGG>TAG	p.W813*	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank|EEF1G_uc001ntn.1_5'Flank|TUT1_uc001ntp.1_Nonsense_Mutation_p.W309*	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6	775					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																		---	---	---	---	capture		Nonsense_Mutation	SNP	62342867	62342867	17336	11	C	T	T	21	21	TUT1	T	5	2
ATG2A	23130	broad.mit.edu	37	11	64677243	64677243	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64677243G>C	uc001obx.2	-	14	2132	c.2017C>G	c.(2017-2019)CTG>GTG	p.L673V		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	673							protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	64677243	64677243	1112	11	G	C	C	34	34	ATG2A	C	3	3
ATG2A	23130	broad.mit.edu	37	11	64679608	64679608	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64679608G>T	uc001obx.2	-	8	1151	c.1036C>A	c.(1036-1038)CCC>ACC	p.P346T		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	346							protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	64679608	64679608	1112	11	G	T	T	42	42	ATG2A	T	2	2
EIF1AD	84285	broad.mit.edu	37	11	65767582	65767582	+	Silent	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:65767582C>T	uc001ogm.1	-	3	423	c.138G>A	c.(136-138)GGG>GGA	p.G46G	EIF1AD_uc001ogn.1_Silent_p.G46G|BANF1_uc001ogo.2_5'Flank|BANF1_uc001ogp.2_5'Flank	NM_032325	NP_115701	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A	46	S1-like.					nucleus	translation initiation factor activity				0																		---	---	---	---	capture		Silent	SNP	65767582	65767582	5180	11	C	T	T	26	26	EIF1AD	T	2	2
DHCR7	1717	broad.mit.edu	37	11	71155063	71155063	+	Silent	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:71155063G>C	uc001oqk.2	-	4	547	c.297C>G	c.(295-297)CTC>CTG	p.L99L	DHCR7_uc001oql.2_Silent_p.L99L	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	99			L -> P (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			ovary(1)|liver(1)	2					NADH(DB00157)									Smith-Lemli-Opitz_syndrome				---	---	---	---	capture		Silent	SNP	71155063	71155063	4656	11	G	C	C	33	33	DHCR7	C	3	3
MOGAT2	80168	broad.mit.edu	37	11	75431154	75431154	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:75431154A>T	uc010rru.1	+	2	209	c.209A>T	c.(208-210)CAC>CTC	p.H70L	MOGAT2_uc001oww.1_Missense_Mutation_p.H70L|MOGAT2_uc010rrv.1_5'UTR	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	70					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			ovary(2)	2	Ovarian(111;0.103)																	---	---	---	---	capture		Missense_Mutation	SNP	75431154	75431154	10086	11	A	T	T	6	6	MOGAT2	T	4	4
CTSC	1075	broad.mit.edu	37	11	88033701	88033701	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:88033701G>C	uc001pck.3	-	5	855	c.754C>G	c.(754-756)CAA>GAA	p.Q252E	CTSC_uc001pcl.3_Missense_Mutation_p.Q104E	NM_001814	NP_001805	P53634	CATC_HUMAN	cathepsin C isoform a preproprotein	252			Q -> L (in PLS).		immune response	lysosome	cysteine-type endopeptidase activity				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)																---	---	---	---	capture		Missense_Mutation	SNP	88033701	88033701	4190	11	G	C	C	47	47	CTSC	C	3	3
FOLH1B	219595	broad.mit.edu	37	11	89429876	89429876	+	Silent	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89429876A>T	uc001pda.2	+	13	1648	c.1122A>T	c.(1120-1122)CCA>CCT	p.P374P		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B	374					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			ovary(3)|skin(2)|central_nervous_system(1)	6																		---	---	---	---	capture		Silent	SNP	89429876	89429876	6222	11	A	T	T	7	7	FOLH1B	T	4	4
MAML2	84441	broad.mit.edu	37	11	95825700	95825700	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:95825700C>A	uc001pfw.1	-	2	2780	c.1495G>T	c.(1495-1497)GGG>TGG	p.G499W		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	499					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								---	---	---	---	capture		Missense_Mutation	SNP	95825700	95825700	9589	11	C	A	A	21	21	MAML2	A	2	2
DDI1	414301	broad.mit.edu	37	11	103908335	103908335	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:103908335G>T	uc001phr.2	+	1	1028	c.785G>T	c.(784-786)GGC>GTC	p.G262V	PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	DDI1, DNA-damage inducible 1, homolog 1	262					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)														---	---	---	---	capture		Missense_Mutation	SNP	103908335	103908335	4499	11	G	T	T	42	42	DDI1	T	2	2
GUCY1A2	2977	broad.mit.edu	37	11	106810492	106810492	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:106810492A>T	uc001pjg.1	-	4	1290	c.900T>A	c.(898-900)AAT>AAA	p.N300K	GUCY1A2_uc010rvo.1_Missense_Mutation_p.N300K|GUCY1A2_uc009yxn.1_Missense_Mutation_p.N300K	NM_000855	NP_000846	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	300					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			large_intestine(3)|lung(2)|pancreas(2)|ovary(1)	8		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)														---	---	---	---	capture		Missense_Mutation	SNP	106810492	106810492	7173	11	A	T	T	16	16	GUCY1A2	T	4	4
MLL	4297	broad.mit.edu	37	11	118368740	118368740	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118368740C>A	uc001pta.2	+	21	5768	c.5745C>A	c.(5743-5745)GAC>GAA	p.D1915E	MLL_uc001ptb.2_Missense_Mutation_p.D1918E	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	1915					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)				T|O	MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB	AML|ALL								---	---	---	---	capture		Missense_Mutation	SNP	118368740	118368740	10010	11	C	A	A	19	19	MLL	A	1	1
TMEM25	84866	broad.mit.edu	37	11	118403023	118403023	+	Missense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118403023T>A	uc010rye.1	+	3	403	c.229T>A	c.(229-231)TCA>ACA	p.S77T	TMEM25_uc010ryd.1_Missense_Mutation_p.S77T|TMEM25_uc001ptk.3_Missense_Mutation_p.S77T|TMEM25_uc001pth.2_Missense_Mutation_p.S77T|TMEM25_uc009zad.2_Missense_Mutation_p.S77T|TMEM25_uc001pti.2_Intron|TMEM25_uc010ryf.1_Missense_Mutation_p.S77T|TMEM25_uc001ptl.2_Missense_Mutation_p.S77T|TMEM25_uc001ptm.2_Missense_Mutation_p.S77T|TMEM25_uc001ptn.2_Missense_Mutation_p.S77T	NM_032780	NP_116169	Q86YD3	TMM25_HUMAN	transmembrane protein 25 isoform 1	77	Extracellular (Potential).|Ig-like.					extracellular region|integral to membrane|plasma membrane					0	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)														---	---	---	---	capture		Missense_Mutation	SNP	118403023	118403023	16689	11	T	A	A	54	54	TMEM25	A	4	4
POU2F3	25833	broad.mit.edu	37	11	120176496	120176496	+	Splice_Site	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:120176496T>A	uc001pxc.2	+	8	871	c.769_splice	c.e8+2	p.E257_splice	POU2F3_uc010rzk.1_Splice_Site_p.E211_splice|POU2F3_uc010rzl.1_Splice_Site_p.E187_splice|POU2F3_uc001pxe.1_Splice_Site_p.E42_splice	NM_014352	NP_055167			POU transcription factor						negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			ovary(1)|skin(1)	2		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)														---	---	---	---	capture		Splice_Site	SNP	120176496	120176496	12703	11	T	A	A	57	57	POU2F3	A	5	4
TECTA	7007	broad.mit.edu	37	11	121023771	121023771	+	Silent	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:121023771C>A	uc010rzo.1	+	12	4287	c.4287C>A	c.(4285-4287)TCC>TCA	p.S1429S		NM_005422	NP_005413	O75443	TECTA_HUMAN	tectorin alpha precursor	1429					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix				breast(6)|ovary(2)|skin(2)	10	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)														---	---	---	---	capture		Silent	SNP	121023771	121023771	16274	11	C	A	A	23	23	TECTA	A	1	1
OR8D4	338662	broad.mit.edu	37	11	123777196	123777196	+	Missense_Mutation	SNP	C	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123777196C>G	uc010saa.1	+	1	58	c.58C>G	c.(58-60)CAA>GAA	p.Q20E		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D,	20	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		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;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)														---	---	---	---	capture		Missense_Mutation	SNP	123777196	123777196	11644	11	C	G	G	17	17	OR8D4	G	3	3
ADAMTS8	11095	broad.mit.edu	37	11	130284617	130284617	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:130284617C>A	uc001qgg.3	-	5	1733	c.1375G>T	c.(1375-1377)GAT>TAT	p.D459Y	ADAMTS8_uc001qgf.2_5'Flank	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1	459	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)	1	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)														---	---	---	---	capture		Missense_Mutation	SNP	130284617	130284617	273	11	C	A	A	30	30	ADAMTS8	A	2	2
IGSF9B	22997	broad.mit.edu	37	11	133791226	133791226	+	Silent	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133791226G>A	uc001qgx.3	-	18	2625	c.2394C>T	c.(2392-2394)GAC>GAT	p.D798D		NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	798	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)														---	---	---	---	capture		Silent	SNP	133791226	133791226	7907	11	G	A	A	40	40	IGSF9B	A	1	1
GPR162	27239	broad.mit.edu	37	12	6933072	6933072	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:6933072G>A	uc001qqw.1	+	2	543	c.8G>A	c.(7-9)CGG>CAG	p.R3Q	GPR162_uc010sfn.1_Missense_Mutation_p.R3Q|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	G protein-coupled receptor 162 isoform 2	3	Extracellular (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	6933072	6933072	6941	12	G	A	A	39	39	GPR162	A	1	1
ACSM4	341392	broad.mit.edu	37	12	7459250	7459250	+	Missense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:7459250C>T	uc001qsx.1	+	2	323	c.323C>T	c.(322-324)CCC>CTC	p.P108L		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	108					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	7459250	7459250	187	12	C	T	T	22	22	ACSM4	T	2	2
TAS2R19	259294	broad.mit.edu	37	12	11174518	11174518	+	Missense_Mutation	SNP	T	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11174518T>C	uc010shj.1	-	1	653	c.653A>G	c.(652-654)GAT>GGT	p.D218G	PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron	NM_176888	NP_795369	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	218	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	11174518	11174518	16092	12	T	C	C	50	50	TAS2R19	C	4	4
ZCRB1	85437	broad.mit.edu	37	12	42706889	42706889	+	Missense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:42706889C>T	uc001rmz.2	-	8	843	c.634G>A	c.(634-636)GAG>AAG	p.E212K	PPHLN1_uc001rmy.2_Intron	NM_033114	NP_149105	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	212					mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			skin(1)	1	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)														---	---	---	---	capture		Missense_Mutation	SNP	42706889	42706889	18184	12	C	T	T	29	29	ZCRB1	T	2	2
KRT79	338785	broad.mit.edu	37	12	53227899	53227899	+	Missense_Mutation	SNP	T	C	C	rs112108733	byFrequency	TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53227899T>C	uc001sbb.2	-	1	179	c.146A>G	c.(145-147)CAC>CGC	p.H49R		NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	keratin 6L	49	Head.					keratin filament	structural molecule activity			ovary(2)|skin(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	53227899	53227899	8807	12	T	C	C	59	59	KRT79	C	4	4
SUOX	6821	broad.mit.edu	37	12	56398187	56398187	+	Silent	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56398187G>C	uc001six.2	+	6	1340	c.1014G>C	c.(1012-1014)CGG>CGC	p.R338R	SUOX_uc001siy.2_Silent_p.R338R|SUOX_uc001siz.2_Silent_p.R338R|SUOX_uc001sja.2_Silent_p.R338R	NM_000456	NP_000447	P51687	SUOX_HUMAN	sulfite oxidase precursor	338	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity				0			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)															---	---	---	---	capture		Silent	SNP	56398187	56398187	15915	12	G	C	C	43	43	SUOX	C	3	3
LRRC10	376132	broad.mit.edu	37	12	70003884	70003884	+	Silent	SNP	T	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:70003884T>C	uc001svc.2	-	1	1059	c.735A>G	c.(733-735)CCA>CCG	p.P245P		NM_201550	NP_963844	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	245						nucleus					0	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)															---	---	---	---	capture		Silent	SNP	70003884	70003884	9340	12	T	C	C	55	55	LRRC10	C	4	4
BEST3	144453	broad.mit.edu	37	12	70048965	70048965	+	Missense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:70048965T>A	uc001svg.2	-	10	1956	c.1729A>T	c.(1729-1731)AAC>TAC	p.N577Y	BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.N364Y|BEST3_uc010stm.1_Missense_Mutation_p.N471Y	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	vitelliform macular dystrophy 2-like 3 isoform	577	Cytoplasmic (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)															---	---	---	---	capture		Missense_Mutation	SNP	70048965	70048965	1429	12	T	A	A	63	63	BEST3	A	4	4
SPIC	121599	broad.mit.edu	37	12	101873438	101873438	+	Missense_Mutation	SNP	C	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101873438C>G	uc001tid.2	+	4	335	c.176C>G	c.(175-177)ACA>AGA	p.T59R	SPIC_uc009zua.2_5'UTR|SPIC_uc010svp.1_Missense_Mutation_p.T58R	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	59						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	101873438	101873438	15563	12	C	G	G	17	17	SPIC	G	3	3
TBX5	6910	broad.mit.edu	37	12	114823354	114823354	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114823354C>A	uc001tvo.2	-	7	1177	c.682G>T	c.(682-684)GAG>TAG	p.E228*	TBX5_uc001tvp.2_Nonsense_Mutation_p.E228*|TBX5_uc001tvq.2_Nonsense_Mutation_p.E178*|TBX5_uc010syv.1_Nonsense_Mutation_p.E228*	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	228	T-box.				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)														---	---	---	---	capture		Nonsense_Mutation	SNP	114823354	114823354	16187	12	C	A	A	29	29	TBX5	A	5	2
TBX5	6910	broad.mit.edu	37	12	114836513	114836513	+	Silent	SNP	G	A	A	rs142293206		TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:114836513G>A	uc001tvo.2	-	5	870	c.375C>T	c.(373-375)GGC>GGT	p.G125G	TBX5_uc001tvp.2_Silent_p.G125G|TBX5_uc001tvq.2_Silent_p.G75G|TBX5_uc010syv.1_Silent_p.G125G	NM_181486	NP_852259	Q99593	TBX5_HUMAN	T-box 5 isoform 1	125	T-box.				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			ovary(6)|pancreas(1)|skin(1)	8	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)														---	---	---	---	capture		Silent	SNP	114836513	114836513	16187	12	G	A	A	46	46	TBX5	A	2	2
RNF10	9921	broad.mit.edu	37	12	120972765	120972765	+	Missense_Mutation	SNP	A	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:120972765A>C	uc001typ.3	+	1	634	c.151A>C	c.(151-153)AAG>CAG	p.K51Q	RNF10_uc010szk.1_RNA	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	ring finger protein 10	51	Ser-rich.				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			upper_aerodigestive_tract(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---	capture		Missense_Mutation	SNP	120972765	120972765	13899	12	A	C	C	5	5	RNF10	C	4	4
SPPL3	121665	broad.mit.edu	37	12	121206828	121206828	+	Silent	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:121206828G>A	uc001tzd.2	-	7	1018	c.537C>T	c.(535-537)GCC>GCT	p.A179A	SPPL3_uc009zwz.2_Silent_p.A179A|SPPL3_uc001tzc.2_Silent_p.A9A	NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	signal peptide peptidase 3	180	Helical; (Potential).					integral to membrane	aspartic-type endopeptidase activity				0	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)																	---	---	---	---	capture		Silent	SNP	121206828	121206828	15603	12	G	A	A	35	35	SPPL3	A	2	2
NCOR2	9612	broad.mit.edu	37	12	124968189	124968189	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124968189G>A	uc010tba.1	-	3	481	c.364C>T	c.(364-366)CCC>TCC	p.P122S	NCOR2_uc010tay.1_Missense_Mutation_p.P122S|NCOR2_uc010taz.1_Missense_Mutation_p.P122S|NCOR2_uc010tbb.1_Missense_Mutation_p.P122S|NCOR2_uc010tbc.1_Missense_Mutation_p.P122S|NCOR2_uc001ugj.1_Missense_Mutation_p.P122S|NCOR2_uc001ugk.1_Missense_Mutation_p.P122S|uc001ugl.2_5'Flank	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	122					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			skin(3)|ovary(1)	4	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)														---	---	---	---	capture		Missense_Mutation	SNP	124968189	124968189	10635	12	G	A	A	44	44	NCOR2	A	2	2
BRI3BP	140707	broad.mit.edu	37	12	125509609	125509609	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:125509609G>C	uc001uha.1	+	3	532	c.389G>C	c.(388-390)GGC>GCC	p.G130A		NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN	BRI3-binding protein	130	Helical; (Potential).					integral to membrane|mitochondrial outer membrane				ovary(1)	1	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)														---	---	---	---	capture		Missense_Mutation	SNP	125509609	125509609	1544	12	G	C	C	42	42	BRI3BP	C	3	3
EFHA1	221154	broad.mit.edu	37	13	22140935	22140935	+	Splice_Site	SNP	C	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:22140935C>G	uc001uof.2	-	2	380	c.358_splice	c.e2+1	p.R120_splice		NM_152726	NP_689939			EF-hand domain family, member A1								calcium ion binding				0		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)														---	---	---	---	capture		Splice_Site	SNP	22140935	22140935	5131	13	C	G	G	19	19	EFHA1	G	5	3
COG6	57511	broad.mit.edu	37	13	40263924	40263924	+	Missense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:40263924T>A	uc001uxh.2	+	11	1137	c.1037T>A	c.(1036-1038)GTT>GAT	p.V346D	COG6_uc001uxi.2_Missense_Mutation_p.V294D|COG6_uc010acb.2_Missense_Mutation_p.V346D	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6 isoform	346					protein transport	Golgi membrane|Golgi transport complex				kidney(1)|skin(1)	2		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)														---	---	---	---	capture		Missense_Mutation	SNP	40263924	40263924	3800	13	T	A	A	60	60	COG6	A	4	4
RB1	5925	broad.mit.edu	37	13	49030426	49030426	+	Nonsense_Mutation	SNP	C	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49030426C>G	uc001vcb.2	+	19	2067	c.1901C>G	c.(1900-1902)TCA>TGA	p.S634*		NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	634	Pocket; binds T and E1A.|Spacer.				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.?(6)		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)			---	---	---	---	capture		Nonsense_Mutation	SNP	49030426	49030426	13559	13	C	G	G	29	29	RB1	G	5	3
F10	2159	broad.mit.edu	37	13	113798324	113798324	+	Missense_Mutation	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113798324A>G	uc001vsx.2	+	6	719	c.662A>G	c.(661-663)AAC>AGC	p.N221S	F10_uc010agq.1_RNA|F10_uc001vsy.2_Missense_Mutation_p.N221S|F10_uc001vsz.2_Missense_Mutation_p.N221S	NM_000504	NP_000495	P00742	FA10_HUMAN	coagulation factor X preproprotein	221					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)													---	---	---	---	capture		Missense_Mutation	SNP	113798324	113798324	5530	13	A	G	G	2	2	F10	G	4	4
OR11H12	440153	broad.mit.edu	37	14	19378028	19378028	+	Silent	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:19378028G>A	uc010tkp.1	+	1	435	c.435G>A	c.(433-435)TTG>TTA	p.L145L		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H,	145	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---	capture		Silent	SNP	19378028	19378028	11333	14	G	A	A	46	46	OR11H12	A	2	2
OR4Q3	441669	broad.mit.edu	37	14	20215938	20215938	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20215938G>T	uc010tkt.1	+	1	352	c.352G>T	c.(352-354)GTC>TTC	p.V118F		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q,	118	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)	3	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)														---	---	---	---	capture		Missense_Mutation	SNP	20215938	20215938	11491	14	G	T	T	36	36	OR4Q3	T	2	2
MYH6	4624	broad.mit.edu	37	14	23873974	23873974	+	Silent	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23873974G>T	uc001wjv.2	-	7	655	c.588C>A	c.(586-588)GCC>GCA	p.A196A	MYH6_uc010akp.1_Silent_p.A196A	NM_002471	NP_002462	P13533	MYH6_HUMAN	myosin heavy chain 6	196	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			pancreas(2)|ovary(1)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)														---	---	---	---	capture		Silent	SNP	23873974	23873974	10433	14	G	T	T	47	47	MYH6	T	2	2
RGS6	9628	broad.mit.edu	37	14	72985064	72985064	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:72985064G>T	uc001xna.3	+	15	1620	c.1097G>T	c.(1096-1098)TGG>TTG	p.W366L	RGS6_uc010ttn.1_Missense_Mutation_p.W366L|RGS6_uc001xmx.3_Missense_Mutation_p.W366L|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.W366L|RGS6_uc010ttp.1_Missense_Mutation_p.W297L|RGS6_uc001xmz.1_Missense_Mutation_p.W227L	NM_004296	NP_004287	P49758	RGS6_HUMAN	regulator of G-protein signalling 6	366	RGS.				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			upper_aerodigestive_tract(1)|lung(1)|skin(1)	3				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)														---	---	---	---	capture		Missense_Mutation	SNP	72985064	72985064	13783	14	G	T	T	47	47	RGS6	T	2	2
FAM161B	145483	broad.mit.edu	37	14	74413274	74413274	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74413274G>T	uc001xpd.1	-	2	195	c.89C>A	c.(88-90)GCA>GAA	p.A30E		NM_152445	NP_689658			hypothetical protein LOC145483											ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	74413274	74413274	5677	14	G	T	T	46	46	FAM161B	T	2	2
C14orf115	55237	broad.mit.edu	37	14	74825298	74825298	+	Silent	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:74825298C>T	uc001xpw.3	+	2	2003	c.1812C>T	c.(1810-1812)TCC>TCT	p.S604S		NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	hypothetical protein LOC55237	604					transposition, DNA-mediated		DNA binding|transposase activity				0				BRCA - Breast invasive adenocarcinoma(234;0.00147)														---	---	---	---	capture		Silent	SNP	74825298	74825298	1788	14	C	T	T	21	21	C14orf115	T	2	2
MLH3	27030	broad.mit.edu	37	14	75516158	75516158	+	Missense_Mutation	SNP	C	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75516158C>G	uc001xrd.1	-	2	417	c.201G>C	c.(199-201)GAG>GAC	p.E67D	MLH3_uc001xre.1_Missense_Mutation_p.E67D|MLH3_uc010tuy.1_RNA	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	67					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					---	---	---	---	capture		Missense_Mutation	SNP	75516158	75516158	10008	14	C	G	G	32	32	MLH3	G	3	3
FOXN3	1112	broad.mit.edu	37	14	89878560	89878560	+	Silent	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:89878560G>T	uc001xxo.3	-	2	398	c.261C>A	c.(259-261)GTC>GTA	p.V87V	FOXN3_uc001xxn.3_Silent_p.V87V|FOXN3_uc010atk.2_Silent_p.V87V|FOXN3_uc001xxp.2_Silent_p.V87V	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	checkpoint suppressor 1 isoform 1	87					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|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|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			skin(2)|ovary(1)	3																		---	---	---	---	capture		Silent	SNP	89878560	89878560	6267	14	G	T	T	41	41	FOXN3	T	2	2
SLC24A4	123041	broad.mit.edu	37	14	92900300	92900300	+	Nonsense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:92900300C>T	uc001yak.2	+	3	259	c.235C>T	c.(235-237)CAG>TAG	p.Q79*	SLC24A4_uc001yai.2_Nonsense_Mutation_p.Q32*|SLC24A4_uc010twm.1_Nonsense_Mutation_p.Q96*|SLC24A4_uc001yaj.2_Nonsense_Mutation_p.Q79*	NM_153646	NP_705932	Q8NFF2	NCKX4_HUMAN	solute carrier family 24 member 4 isoform 1	96	Extracellular (Potential).					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(2)|ovary(1)	3		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)														---	---	---	---	capture		Nonsense_Mutation	SNP	92900300	92900300	14965	14	C	T	T	17	17	SLC24A4	T	5	2
C14orf177	283598	broad.mit.edu	37	14	99183497	99183497	+	Silent	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:99183497T>A	uc001yfz.1	+	4	683	c.264T>A	c.(262-264)TCT>TCA	p.S88S		NM_182560	NP_872366	Q52M58	CN177_HUMAN	hypothetical protein LOC283598	88											0		Melanoma(154;0.128)																---	---	---	---	capture		Silent	SNP	99183497	99183497	1809	14	T	A	A	54	54	C14orf177	A	4	4
CDC42BPB	9578	broad.mit.edu	37	14	103412890	103412890	+	Silent	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103412890C>A	uc001ymi.1	-	28	3895	c.3663G>T	c.(3661-3663)CTG>CTT	p.L1221L	CDC42BPB_uc001ymj.1_Silent_p.L323L	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	1221					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)														---	---	---	---	capture		Silent	SNP	103412890	103412890	3201	14	C	A	A	29	29	CDC42BPB	A	2	2
CYFIP1	23191	broad.mit.edu	37	15	22999410	22999410	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:22999410G>C	uc001yus.2	+	29	3386	c.3282G>C	c.(3280-3282)GAG>GAC	p.E1094D	CYFIP1_uc001yut.2_Missense_Mutation_p.E1094D|CYFIP1_uc001yuu.2_Missense_Mutation_p.E663D|CYFIP1_uc001yuv.2_Missense_Mutation_p.E288D	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1 isoform	1094					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			ovary(4)|pancreas(3)|liver(1)|skin(1)	9		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)														---	---	---	---	capture		Missense_Mutation	SNP	22999410	22999410	4302	15	G	C	C	35	35	CYFIP1	C	3	3
MKRN3	7681	broad.mit.edu	37	15	23811738	23811738	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23811738G>T	uc001ywh.3	+	1	1285	c.809G>T	c.(808-810)GGG>GTG	p.G270V	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.G270V	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	270	Makorin-type Cys-His.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			lung(6)|large_intestine(2)|ovary(2)	10		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)														---	---	---	---	capture		Missense_Mutation	SNP	23811738	23811738	9998	15	G	T	T	43	43	MKRN3	T	2	2
IVD	3712	broad.mit.edu	37	15	40702942	40702942	+	Silent	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:40702942C>T	uc001zls.3	+	4	745	c.411C>T	c.(409-411)ATC>ATT	p.I137I	IVD_uc001zlq.2_Silent_p.I107I	NM_002225	NP_002216	P26440	IVD_HUMAN	isovaleryl Coenzyme A dehydrogenase isoform 1	134					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			ovary(1)	1		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)														---	---	---	---	capture		Silent	SNP	40702942	40702942	8232	15	C	T	T	29	29	IVD	T	2	2
SCG3	29106	broad.mit.edu	37	15	51984508	51984508	+	Silent	SNP	T	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:51984508T>C	uc002abh.2	+	7	1251	c.843T>C	c.(841-843)TAT>TAC	p.Y281Y	SCG3_uc010ufz.1_Silent_p.Y49Y	NM_013243	NP_037375	Q8WXD2	SCG3_HUMAN	secretogranin III isoform 1 precursor	281					platelet activation|platelet degranulation	extracellular region|stored secretory granule				ovary(1)	1				all cancers(107;0.00488)														---	---	---	---	capture		Silent	SNP	51984508	51984508	14373	15	T	C	C	51	51	SCG3	C	4	4
MEGF11	84465	broad.mit.edu	37	15	66223281	66223281	+	Missense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66223281C>T	uc002apm.2	-	11	1429	c.1288G>A	c.(1288-1290)GGA>AGA	p.G430R	MEGF11_uc002apl.2_Missense_Mutation_p.G355R|MEGF11_uc002apn.1_Missense_Mutation_p.G430R	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11 precursor	430	EGF-like 7.					basolateral plasma membrane|integral to membrane				pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	66223281	66223281	9850	15	C	T	T	22	22	MEGF11	T	2	2
MSLNL	401827	broad.mit.edu	37	16	825561	825561	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:825561C>A	uc002cjz.1	-	5	1200	c.1200G>T	c.(1198-1200)AGG>AGT	p.R400S		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell adhesion	integral to membrane				breast(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	825561	825561	10275	16	C	A	A	22	22	MSLNL	A	2	2
ABCC1	4363	broad.mit.edu	37	16	16170234	16170234	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16170234G>T	uc010bvi.2	+	15	2139	c.1964G>T	c.(1963-1965)AGG>ATG	p.R655M	ABCC1_uc010bvj.2_Missense_Mutation_p.R655M|ABCC1_uc010bvk.2_Missense_Mutation_p.R655M|ABCC1_uc010bvl.2_Missense_Mutation_p.R655M|ABCC1_uc010bvm.2_Missense_Mutation_p.R655M|ABCC1_uc002del.3_Missense_Mutation_p.R539M	NM_004996	NP_004987	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C, member 1	655	ABC transporter 1.|Cytoplasmic.				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)													---	---	---	---	capture		Missense_Mutation	SNP	16170234	16170234	50	16	G	T	T	35	35	ABCC1	T	2	2
ACSM1	116285	broad.mit.edu	37	16	20702439	20702439	+	Silent	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20702439A>T	uc002dhm.1	-	1	140	c.72T>A	c.(70-72)CCT>CCA	p.P24P	ACSM1_uc002dhn.1_RNA|ACSM1_uc010bwg.1_Silent_p.P24P	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member	24					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	20702439	20702439	183	16	A	T	T	3	3	ACSM1	T	4	4
DNAH3	55567	broad.mit.edu	37	16	21030989	21030989	+	Silent	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:21030989G>T	uc010vbe.1	-	41	5979	c.5979C>A	c.(5977-5979)CCC>CCA	p.P1993P		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1993					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)														---	---	---	---	capture		Silent	SNP	21030989	21030989	4786	16	G	T	T	47	47	DNAH3	T	2	2
PRKCB	5579	broad.mit.edu	37	16	23999892	23999892	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:23999892A>T	uc002dmd.2	+	3	466	c.269A>T	c.(268-270)GAC>GTC	p.D90V	PRKCB_uc002dme.2_Missense_Mutation_p.D90V	NM_212535	NP_997700	P05771	KPCB_HUMAN	protein kinase C, beta isoform 1	90					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1)	9					Vitamin E(DB00163)													---	---	---	---	capture		Missense_Mutation	SNP	23999892	23999892	12951	16	A	T	T	10	10	PRKCB	T	4	4
NETO2	81831	broad.mit.edu	37	16	47117149	47117149	+	Missense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:47117149T>A	uc002eer.1	-	9	1946	c.1561A>T	c.(1561-1563)ATA>TTA	p.I521L	NETO2_uc002eeq.1_Missense_Mutation_p.I256L|NETO2_uc010vgf.1_Missense_Mutation_p.I378L	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	neuropilin- and tolloid-like protein 2	521	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)			---	---	---	---	capture		Missense_Mutation	SNP	47117149	47117149	10739	16	T	A	A	51	51	NETO2	A	4	4
ZNF423	23090	broad.mit.edu	37	16	49672234	49672234	+	Missense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:49672234C>T	uc002efs.2	-	5	1127	c.829G>A	c.(829-831)GAG>AAG	p.E277K	ZNF423_uc010vgn.1_Missense_Mutation_p.E160K	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	277	C2H2-type 6.				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)																---	---	---	---	capture		Missense_Mutation	SNP	49672234	49672234	18491	16	C	T	T	30	30	ZNF423	T	2	2
SALL1	6299	broad.mit.edu	37	16	51172639	51172639	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:51172639G>T	uc010vgs.1	-	2	3525	c.3494C>A	c.(3493-3495)ACT>AAT	p.T1165N	SALL1_uc010vgr.1_Missense_Mutation_p.T1068N|SALL1_uc010cbv.2_Intron	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	sal-like 1 isoform a	1165	C2H2-type 9.				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)															---	---	---	---	capture		Missense_Mutation	SNP	51172639	51172639	14290	16	G	T	T	36	36	SALL1	T	2	2
C16orf48	84080	broad.mit.edu	37	16	67700143	67700143	+	Silent	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:67700143C>T	uc002etw.1	-	2	394	c.111G>A	c.(109-111)GCG>GCA	p.A37A	C16orf48_uc002etv.1_5'Flank|C16orf48_uc010cem.1_Silent_p.A37A|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.2_5'Flank|C16orf86_uc002etz.2_5'Flank	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	hypothetical protein LOC84080	37						microtubule cytoskeleton	protein binding				0		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)														---	---	---	---	capture		Silent	SNP	67700143	67700143	1868	16	C	T	T	27	27	C16orf48	T	1	1
BCL6B	255877	broad.mit.edu	37	17	6927751	6927751	+	Silent	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:6927751C>T	uc002geg.2	+	4	490	c.433C>T	c.(433-435)CTG>TTG	p.L145L	BCL6B_uc010clt.1_Silent_p.L145L	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B (zinc finger	145	Pro-rich.					nucleus	zinc ion binding			skin(1)	1																		---	---	---	---	capture		Silent	SNP	6927751	6927751	1398	17	C	T	T	24	24	BCL6B	T	2	2
MYH1	4619	broad.mit.edu	37	17	10411234	10411234	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10411234G>A	uc002gmo.2	-	17	2031	c.1937C>T	c.(1936-1938)TCT>TTT	p.S646F	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	646	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21																		---	---	---	---	capture		Missense_Mutation	SNP	10411234	10411234	10424	17	G	A	A	33	33	MYH1	A	2	2
NCOR1	9611	broad.mit.edu	37	17	16097825	16097825	+	Missense_Mutation	SNP	T	A	A	rs73281920	by1000genomes	TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:16097825T>A	uc002gpo.2	-	2	299	c.59A>T	c.(58-60)TAT>TTT	p.Y20F	NCOR1_uc002gpn.2_Missense_Mutation_p.Y20F|NCOR1_uc002gpp.1_Missense_Mutation_p.Y20F|NCOR1_uc002gpr.2_Missense_Mutation_p.Y20F|NCOR1_uc002gps.1_Missense_Mutation_p.Y20F|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.Y20F|NCOR1_uc010cpa.1_Missense_Mutation_p.Y20F|NCOR1_uc002gpu.2_Missense_Mutation_p.Y20F	NM_006311	NP_006302	O75376	NCOR1_HUMAN	nuclear receptor co-repressor 1	20	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)														---	---	---	---	capture		Missense_Mutation	SNP	16097825	16097825	10634	17	T	A	A	49	49	NCOR1	A	4	4
TMEM132E	124842	broad.mit.edu	37	17	32964687	32964687	+	Silent	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:32964687G>T	uc002hif.2	+	10	2719	c.2391G>T	c.(2389-2391)CTG>CTT	p.L797L		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	transmembrane protein 132E precursor	797	Extracellular (Potential).					integral to membrane				central_nervous_system(1)	1				BRCA - Breast invasive adenocarcinoma(366;0.231)														---	---	---	---	capture		Silent	SNP	32964687	32964687	16580	17	G	T	T	47	47	TMEM132E	T	2	2
DHX58	79132	broad.mit.edu	37	17	40260052	40260052	+	Silent	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40260052C>A	uc002hyw.3	-	7	976	c.753G>T	c.(751-753)CGG>CGT	p.R251R	DHX58_uc002hyv.3_RNA|DHX58_uc010wgf.1_Silent_p.R244R	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	RNA helicase LGP2	251					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)														---	---	---	---	capture		Silent	SNP	40260052	40260052	4693	17	C	A	A	30	30	DHX58	A	2	2
NBR1	4077	broad.mit.edu	37	17	41362019	41362019	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:41362019A>T	uc010czd.2	+	21	2967	c.2827A>T	c.(2827-2829)AAT>TAT	p.N943Y	NBR1_uc010diz.2_Missense_Mutation_p.N943Y|NBR1_uc010whv.1_Missense_Mutation_p.N943Y|NBR1_uc010whw.1_3'UTR|TMEM106A_uc002idn.1_5'Flank|TMEM106A_uc010why.1_5'Flank|TMEM106A_uc010cze.1_5'Flank|TMEM106A_uc010whz.1_5'Flank	NM_031862	NP_114068	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	943	UBA.				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			skin(1)	1		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)														---	---	---	---	capture		Missense_Mutation	SNP	41362019	41362019	10599	17	A	T	T	5	5	NBR1	T	4	4
PRR11	55771	broad.mit.edu	37	17	57275130	57275130	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57275130G>T	uc002ixf.1	+	9	1073	c.994G>T	c.(994-996)GCC>TCC	p.A332S	PRR11_uc002ixg.1_RNA	NM_018304	NP_060774	Q96HE9	PRR11_HUMAN	proline rich 11	332										ovary(2)	2	Medulloblastoma(34;0.0922)|all_neural(34;0.101)																	---	---	---	---	capture		Missense_Mutation	SNP	57275130	57275130	13026	17	G	T	T	42	42	PRR11	T	2	2
MYOM1	8736	broad.mit.edu	37	18	3067412	3067412	+	Missense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:3067412C>T	uc002klp.2	-	38	5240	c.4906G>A	c.(4906-4908)GTG>ATG	p.V1636M	MYOM1_uc002klq.2_Missense_Mutation_p.V1540M	NM_003803	NP_003794	P52179	MYOM1_HUMAN	myomesin 1 isoform a	1636	Ig-like C2-type 5.					striated muscle myosin thick filament	structural constituent of muscle			ovary(3)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	3067412	3067412	10486	18	C	T	T	19	19	MYOM1	T	1	1
EPB41L3	23136	broad.mit.edu	37	18	5416379	5416379	+	Splice_Site	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5416379T>A	uc002kmt.1	-	13	1593	c.1507_splice	c.e13-1	p.S503_splice	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439			erythrocyte membrane protein band 4.1-like 3						cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			ovary(5)	5																		---	---	---	---	capture		Splice_Site	SNP	5416379	5416379	5347	18	T	A	A	55	55	EPB41L3	A	5	4
LAMA1	284217	broad.mit.edu	37	18	6993639	6993639	+	Splice_Site	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6993639C>T	uc002knm.2	-	35	5102	c.5008_splice	c.e35+1	p.E1670_splice	LAMA1_uc010wzj.1_Splice_Site_p.E1146_splice	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)													---	---	---	---	capture		Splice_Site	SNP	6993639	6993639	8928	18	C	T	T	18	18	LAMA1	T	5	2
TXNDC2	84203	broad.mit.edu	37	18	9887052	9887052	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9887052G>C	uc002koi.3	+	2	1025	c.576G>C	c.(574-576)GAG>GAC	p.E192D	TXNDC2_uc010wzq.1_Intron|TXNDC2_uc002koh.3_Missense_Mutation_p.E125D	NM_001098529	NP_001091999	Q86VQ3	TXND2_HUMAN	thioredoxin domain-containing 2 isoform 2	192	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.|6.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	9887052	9887052	17353	18	G	C	C	35	35	TXNDC2	C	3	3
TTR	7276	broad.mit.edu	37	18	29175121	29175121	+	Missense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29175121C>T	uc002kwx.3	+	3	375	c.239C>T	c.(238-240)ACT>ATT	p.T80I		NM_000371	NP_000362	P02766	TTHY_HUMAN	transthyretin precursor	80			T -> A (in AMYL-TTR; amyloid polyneuropathy and cardiomyopathy).		transport	cytoplasm	hormone activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)													---	---	---	---	capture		Missense_Mutation	SNP	29175121	29175121	17293	18	C	T	T	20	20	TTR	T	2	2
KIAA1012	22878	broad.mit.edu	37	18	29453429	29453429	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29453429G>A	uc002kxc.3	-	14	2390	c.2026C>T	c.(2026-2028)CGG>TGG	p.R676W	KIAA1012_uc002kxb.3_Missense_Mutation_p.R622W|KIAA1012_uc002kxd.3_RNA	NM_014939	NP_055754	Q9Y2L5	TPPC8_HUMAN	hypothetical protein LOC22878	676					ER to Golgi vesicle-mediated transport	cis-Golgi network					0																		---	---	---	---	capture		Missense_Mutation	SNP	29453429	29453429	8511	18	G	A	A	40	40	KIAA1012	A	1	1
ASXL3	80816	broad.mit.edu	37	18	31263479	31263479	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:31263479C>A	uc010dmg.1	+	8	881	c.826C>A	c.(826-828)CCT>ACT	p.P276T	ASXL3_uc002kxq.2_5'UTR	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			ovary(2)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	31263479	31263479	1087	18	C	A	A	18	18	ASXL3	A	2	2
SHC2	25759	broad.mit.edu	37	19	425217	425217	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:425217C>A	uc002loq.3	-	10	1189	c.1189G>T	c.(1189-1191)GGC>TGC	p.G397C	SHC2_uc002lop.3_Missense_Mutation_p.G138C	NM_012435	NP_036567	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing)	397	CH1.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol					0		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture		Missense_Mutation	SNP	425217	425217	14763	19	C	A	A	23	23	SHC2	A	1	1
ZFR2	23217	broad.mit.edu	37	19	3819124	3819124	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:3819124G>A	uc002lyw.2	-	12	1862	c.1850C>T	c.(1849-1851)GCA>GTA	p.A617V		NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2 isoform 1	617						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)														---	---	---	---	capture		Missense_Mutation	SNP	3819124	3819124	18250	19	G	A	A	46	46	ZFR2	A	2	2
DUS3L	56931	broad.mit.edu	37	19	5788169	5788169	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5788169G>C	uc002mdc.2	-	5	1058	c.961C>G	c.(961-963)CGA>GGA	p.R321G	DUS3L_uc002mdd.2_Missense_Mutation_p.R79G|DUS3L_uc010duk.2_5'UTR|DUS3L_uc010xiw.1_RNA	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like isoform 1	321					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	5788169	5788169	4992	19	G	C	C	39	39	DUS3L	C	3	3
MUC16	94025	broad.mit.edu	37	19	9075135	9075135	+	Nonsense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9075135G>C	uc002mkp.2	-	3	12515	c.12311C>G	c.(12310-12312)TCA>TGA	p.S4104*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	4106	Thr-rich.|Extracellular (Potential).|Ser-rich.				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																		---	---	---	---	capture		Nonsense_Mutation	SNP	9075135	9075135	10367	19	G	C	C	45	45	MUC16	C	5	3
KEAP1	9817	broad.mit.edu	37	19	10610211	10610211	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10610211C>A	uc002moq.1	-	2	655	c.499G>T	c.(499-501)GTT>TTT	p.V167F	KEAP1_uc002mor.1_Missense_Mutation_p.V167F	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	167			V -> F (in a lung adenocarcinoma patient).		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)															---	---	---	---	capture		Missense_Mutation	SNP	10610211	10610211	8447	19	C	A	A	19	19	KEAP1	A	1	1
RGL3	57139	broad.mit.edu	37	19	11510615	11510615	+	Silent	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11510615C>T	uc002mrp.2	-	16	1726	c.1662G>A	c.(1660-1662)GGG>GGA	p.G554G	RGL3_uc002mrn.2_Silent_p.G318G|RGL3_uc002mrm.2_Silent_p.G318G|RGL3_uc002mro.2_Silent_p.G560G	NM_001035223	NP_001030300	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation	554	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	11510615	11510615	13751	19	C	T	T	18	18	RGL3	T	2	2
ECSIT	51295	broad.mit.edu	37	19	11624938	11624938	+	Silent	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:11624938G>C	uc002msb.2	-	3	329	c.195C>G	c.(193-195)CCC>CCG	p.P65P	ECSIT_uc002msa.1_5'Flank|ECSIT_uc010dyc.1_Silent_p.P65P|ECSIT_uc010dyd.2_Silent_p.P65P|ECSIT_uc010xma.1_Intron	NM_016581	NP_057665	Q9BQ95	ECSIT_HUMAN	evolutionarily conserved signaling intermediate	65					innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	11624938	11624938	5087	19	G	C	C	47	47	ECSIT	C	3	3
ZNF20	7568	broad.mit.edu	37	19	12243921	12243921	+	Silent	SNP	T	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12243921T>C	uc002mtf.1	-	4	1223	c.1080A>G	c.(1078-1080)ACA>ACG	p.T360T	ZNF20_uc002mte.1_Silent_p.T325T|ZNF20_uc002mtg.1_Silent_p.T360T	NM_021143	NP_066966	P17024	ZNF20_HUMAN	zinc finger protein 20	360	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	12243921	12243921	18352	19	T	C	C	59	59	ZNF20	C	4	4
ZNF136	7695	broad.mit.edu	37	19	12297702	12297702	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12297702G>T	uc002mti.2	+	4	609	c.509G>T	c.(508-510)TGT>TTT	p.C170F	ZNF136_uc010xmh.1_Missense_Mutation_p.C104F	NM_003437	NP_003428	P52737	ZN136_HUMAN	zinc finger protein 136	170	C2H2-type 2.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	12297702	12297702	18317	19	G	T	T	48	48	ZNF136	T	2	2
CACNA1A	773	broad.mit.edu	37	19	13397745	13397745	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:13397745G>T	uc010dze.2	-	20	3364	c.3128C>A	c.(3127-3129)CCC>CAC	p.P1043H	CACNA1A_uc010dzc.2_Missense_Mutation_p.P568H|CACNA1A_uc002mwy.3_Missense_Mutation_p.P1042H|CACNA1A_uc010xne.1_Missense_Mutation_p.P571H	NM_001127221	NP_001120693	O00555	CAC1A_HUMAN	calcium channel, alpha 1A subunit isoform 3	1043	Cytoplasmic (Potential).				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)													---	---	---	---	capture		Missense_Mutation	SNP	13397745	13397745	2654	19	G	T	T	43	43	CACNA1A	T	2	2
OR7C2	26658	broad.mit.edu	37	19	15052439	15052439	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15052439C>A	uc010xoc.1	+	1	139	c.139C>A	c.(139-141)CTG>ATG	p.L47M		NM_012377	NP_036509	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C,	47	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	Ovarian(108;0.203)																	---	---	---	---	capture		Missense_Mutation	SNP	15052439	15052439	11629	19	C	A	A	24	24	OR7C2	A	2	2
ZNF708	7562	broad.mit.edu	37	19	21476912	21476912	+	Missense_Mutation	SNP	C	A	A	rs112819776	by1000genomes	TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:21476912C>A	uc002npq.1	-	4	1054	c.856G>T	c.(856-858)GGC>TGC	p.G286C	ZNF708_uc002npr.1_Missense_Mutation_p.G222C|ZNF708_uc010ecs.1_Missense_Mutation_p.G222C	NM_021269	NP_067092	P17019	ZN708_HUMAN	zinc finger protein 708	286	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(4)|skin(2)	6																		---	---	---	---	capture		Missense_Mutation	SNP	21476912	21476912	18708	19	C	A	A	21	21	ZNF708	A	2	2
ZNF254	9534	broad.mit.edu	37	19	24309708	24309708	+	Silent	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:24309708A>G	uc002nru.2	+	4	1040	c.906A>G	c.(904-906)GCA>GCG	p.A302A	ZNF254_uc010xrk.1_Silent_p.A217A	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	302	C2H2-type 4.				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)																---	---	---	---	capture		Silent	SNP	24309708	24309708	18389	19	A	G	G	8	8	ZNF254	G	4	4
SLC7A9	11136	broad.mit.edu	37	19	33349399	33349399	+	Silent	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33349399A>G	uc002ntv.3	-	9	1041	c.924T>C	c.(922-924)TTT>TTC	p.F308F	SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Silent_p.F308F|SLC7A9_uc002ntw.3_Silent_p.F99F	NM_001126335	NP_001119807	P82251	BAT1_HUMAN	solute carrier family 7, member 9	308	Helical; (Potential).				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			skin(1)	1	Esophageal squamous(110;0.137)				L-Cystine(DB00138)													---	---	---	---	capture		Silent	SNP	33349399	33349399	15202	19	A	G	G	5	5	SLC7A9	G	4	4
GPATCH1	55094	broad.mit.edu	37	19	33600724	33600724	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:33600724A>T	uc002nug.1	+	11	1701	c.1387A>T	c.(1387-1389)AGG>TGG	p.R463W		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	463						catalytic step 2 spliceosome	nucleic acid binding			skin(1)	1	Esophageal squamous(110;0.137)																	---	---	---	---	capture		Missense_Mutation	SNP	33600724	33600724	6864	19	A	T	T	7	7	GPATCH1	T	4	4
RBM42	79171	broad.mit.edu	37	19	36122095	36122095	+	Silent	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36122095C>T	uc002oan.2	+	3	412	c.336C>T	c.(334-336)CCC>CCT	p.P112P	RBM42_uc010xsx.1_Silent_p.P112P|RBM42_uc010eef.2_Silent_p.P112P|RBM42_uc002oao.2_Silent_p.P112P|RBM42_uc002oap.2_Silent_p.P112P|RBM42_uc002oaq.2_Silent_p.P112P|RBM42_uc010eeg.2_Silent_p.P112P	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	112						cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)															---	---	---	---	capture		Silent	SNP	36122095	36122095	13598	19	C	T	T	21	21	RBM42	T	2	2
SPRED3	399473	broad.mit.edu	37	19	38885282	38885282	+	Splice_Site	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38885282G>T	uc002oim.2	+	4	428	c.424_splice	c.e4-1	p.S142_splice		NM_001042522	NP_001035987			sprouty-related, EVH1 domain containing 3						multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---	capture		Splice_Site	SNP	38885282	38885282	15607	19	G	T	T	36	36	SPRED3	T	5	2
BCKDHA	593	broad.mit.edu	37	19	41916685	41916685	+	Silent	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41916685G>A	uc002oqq.2	+	2	281	c.252G>A	c.(250-252)CGG>CGA	p.R84R	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Silent_p.R118R|BCKDHA_uc002oqp.1_5'UTR|BCKDHA_uc002oqr.2_Silent_p.R84R|BCKDHA_uc010xvz.1_Silent_p.R62R	NM_000709	NP_000700	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha	84					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding				0																		---	---	---	---	capture		Silent	SNP	41916685	41916685	1380	19	G	A	A	42	42	BCKDHA	A	2	2
ZNF574	64763	broad.mit.edu	37	19	42583881	42583881	+	Missense_Mutation	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42583881A>G	uc002osm.3	+	2	1292	c.1123A>G	c.(1123-1125)ACA>GCA	p.T375A	ZNF574_uc002osk.3_Missense_Mutation_p.T465A	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	zinc finger protein 574	375	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		Prostate(69;0.059)																---	---	---	---	capture		Missense_Mutation	SNP	42583881	42583881	18601	19	A	G	G	6	6	ZNF574	G	4	4
PSG7	5676	broad.mit.edu	37	19	43441184	43441184	+	Missense_Mutation	SNP	C	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43441184C>G	uc002ovl.3	-	1	147	c.45G>C	c.(43-45)TGG>TGC	p.W15C	PSG3_uc002ouf.2_5'Flank|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.W15C	NM_002783	NP_002774	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7	15					female pregnancy	extracellular region					0		Prostate(69;0.00682)																---	---	---	---	capture		Missense_Mutation	SNP	43441184	43441184	13113	19	C	G	G	30	30	PSG7	G	3	3
SYMPK	8189	broad.mit.edu	37	19	46328429	46328429	+	Silent	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46328429C>A	uc002pdn.2	-	18	2735	c.2490G>T	c.(2488-2490)CCG>CCT	p.P830P	SYMPK_uc002pdo.1_Silent_p.P830P|SYMPK_uc002pdp.1_Silent_p.P830P	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	symplekin	830					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)														---	---	---	---	capture		Silent	SNP	46328429	46328429	15960	19	C	A	A	23	23	SYMPK	A	1	1
PNMAL1	55228	broad.mit.edu	37	19	46973039	46973039	+	Silent	SNP	A	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46973039A>C	uc002peq.3	-	2	1560	c.1254T>G	c.(1252-1254)TCT>TCG	p.S418S	PNMAL1_uc002per.3_Intron	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	418											0		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)														---	---	---	---	capture		Silent	SNP	46973039	46973039	12584	19	A	C	C	15	15	PNMAL1	C	4	4
PNMAL2	57469	broad.mit.edu	37	19	46998649	46998649	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46998649C>A	uc002pes.2	-	1	521	c.74G>T	c.(73-75)GGC>GTC	p.G25V	uc002peu.1_3'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	PNMA-like 2	25										central_nervous_system(1)	1		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)														---	---	---	---	capture		Missense_Mutation	SNP	46998649	46998649	12585	19	C	A	A	26	26	PNMAL2	A	2	2
ZC3H4	23211	broad.mit.edu	37	19	47575963	47575963	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47575963G>A	uc002pga.3	-	12	1486	c.1448C>T	c.(1447-1449)GCC>GTC	p.A483V	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	483							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)														---	---	---	---	capture		Missense_Mutation	SNP	47575963	47575963	18158	19	G	A	A	42	42	ZC3H4	A	2	2
GPR77	27202	broad.mit.edu	37	19	47844663	47844663	+	Missense_Mutation	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47844663A>G	uc010ela.1	+	2	825	c.607A>G	c.(607-609)ATC>GTC	p.I203V	GPR77_uc002pgk.1_Missense_Mutation_p.I203V	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	G protein-coupled receptor 77	203	Helical; Name=5; (Potential).				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			ovary(1)	1		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)														---	---	---	---	capture		Missense_Mutation	SNP	47844663	47844663	6984	19	A	G	G	8	8	GPR77	G	4	4
ACPT	93650	broad.mit.edu	37	19	51298356	51298356	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51298356G>A	uc002pta.1	+	11	1222	c.1222G>A	c.(1222-1224)GGG>AGG	p.G408R		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	testicular acid phosphatase precursor	408	Helical; (Potential).					integral to membrane	acid phosphatase activity				0		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)														---	---	---	---	capture		Missense_Mutation	SNP	51298356	51298356	169	19	G	A	A	43	43	ACPT	A	2	2
ZNF28	7576	broad.mit.edu	37	19	53303427	53303427	+	Silent	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53303427C>T	uc002qad.2	-	4	1791	c.1671G>A	c.(1669-1671)GAG>GAA	p.E557E	ZNF28_uc002qac.2_Silent_p.E504E|ZNF28_uc010eqe.2_Silent_p.E503E	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	557	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)														---	---	---	---	capture		Silent	SNP	53303427	53303427	18405	19	C	T	T	32	32	ZNF28	T	2	2
ZNF28	7576	broad.mit.edu	37	19	53303938	53303938	+	Missense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53303938T>A	uc002qad.2	-	4	1280	c.1160A>T	c.(1159-1161)GAA>GTA	p.E387V	ZNF28_uc002qac.2_Missense_Mutation_p.E334V|ZNF28_uc010eqe.2_Missense_Mutation_p.E333V	NM_006969	NP_008900	P17035	ZNF28_HUMAN	zinc finger protein 28	387	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)	1				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)														---	---	---	---	capture		Missense_Mutation	SNP	53303938	53303938	18405	19	T	A	A	62	62	ZNF28	A	4	4
ZSCAN5B	342933	broad.mit.edu	37	19	56701832	56701832	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56701832G>T	uc010ygh.1	-	4	852	c.852C>A	c.(850-852)AGC>AGA	p.S284R		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	284					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	56701832	56701832	18843	19	G	T	T	38	38	ZSCAN5B	T	1	1
ZNF835	90485	broad.mit.edu	37	19	57175947	57175947	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57175947G>A	uc010ygo.1	-	2	686	c.686C>T	c.(685-687)ACG>ATG	p.T229M	ZNF835_uc010ygn.1_Missense_Mutation_p.T207M	NM_001005850	NP_001005850			zinc finger protein 835											pancreas(3)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	57175947	57175947	18785	19	G	A	A	40	40	ZNF835	A	1	1
ZNF497	162968	broad.mit.edu	37	19	58867836	58867836	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:58867836G>A	uc002qsh.1	-	3	1355	c.1166C>T	c.(1165-1167)GCC>GTC	p.A389V	A1BG_uc002qsd.3_5'Flank|A1BG_uc002qsf.1_Intron|ZNF497_uc002qsi.1_Missense_Mutation_p.A389V|uc002qsj.1_5'Flank|uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	389	C2H2-type 11.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)	2		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)														---	---	---	---	capture		Missense_Mutation	SNP	58867836	58867836	18540	19	G	A	A	42	42	ZNF497	A	2	2
GCKR	2646	broad.mit.edu	37	2	27730846	27730846	+	Missense_Mutation	SNP	A	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27730846A>C	uc002rky.2	+	15	1309	c.1243A>C	c.(1243-1245)AAC>CAC	p.N415H	GCKR_uc010ezd.2_Missense_Mutation_p.N413H|GCKR_uc010ylu.1_Missense_Mutation_p.N225H	NM_001486	NP_001477	Q14397	GCKR_HUMAN	glucokinase regulatory protein	415	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			ovary(2)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	27730846	27730846	6560	2	A	C	C	5	5	GCKR	C	4	4
VIT	5212	broad.mit.edu	37	2	37041330	37041330	+	Silent	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37041330G>C	uc002rpl.2	+	16	2129	c.1908G>C	c.(1906-1908)GTG>GTC	p.V636V	VIT_uc002rpm.2_Silent_p.V614V|VIT_uc010ezv.2_Silent_p.V592V|VIT_uc010ezw.2_Silent_p.V593V	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	vitrin	621	VWFA 2.					proteinaceous extracellular matrix				ovary(1)|pancreas(1)	2		all_hematologic(82;0.248)																---	---	---	---	capture		Silent	SNP	37041330	37041330	17738	2	G	C	C	45	45	VIT	C	3	3
DYNC2LI1	51626	broad.mit.edu	37	2	44023055	44023055	+	Silent	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44023055G>T	uc002rtk.2	+	7	630	c.534G>T	c.(532-534)CCG>CCT	p.P178P	DYNC2LI1_uc002rtj.2_Silent_p.P178P|DYNC2LI1_uc002rtl.2_Silent_p.P179P|DYNC2LI1_uc010ynz.1_Silent_p.P52P	NM_016008	NP_057092	Q8TCX1	DC2L1_HUMAN	dynein 2 light intermediate chain isoform 1	178						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			ovary(1)	1		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)																---	---	---	---	capture		Silent	SNP	44023055	44023055	5033	2	G	T	T	39	39	DYNC2LI1	T	1	1
ABCG5	64240	broad.mit.edu	37	2	44051508	44051508	+	Missense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:44051508T>A	uc002rtn.2	-	8	1108	c.968A>T	c.(967-969)CAG>CTG	p.Q323L	ABCG5_uc002rtm.2_Intron|ABCG5_uc002rto.2_Missense_Mutation_p.Q152L|ABCG5_uc002rtp.2_Intron	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	ATP-binding cassette sub-family G member 5	323	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)																---	---	---	---	capture		Missense_Mutation	SNP	44051508	44051508	72	2	T	A	A	55	55	ABCG5	A	4	4
DQX1	165545	broad.mit.edu	37	2	74750078	74750078	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74750078G>T	uc010yrw.1	-	7	1373	c.1208C>A	c.(1207-1209)CCC>CAC	p.P403H	DQX1_uc002smc.2_5'UTR	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	403	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	74750078	74750078	4935	2	G	T	T	43	43	DQX1	T	2	2
RNF181	51255	broad.mit.edu	37	2	85823972	85823972	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:85823972A>T	uc002spv.1	+	3	295	c.245A>T	c.(244-246)GAA>GTA	p.E82V		NM_016494	NP_057578	Q9P0P0	RN181_HUMAN	ring finger protein 181	82	RING-type; atypical.						ligase activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	85823972	85823972	13942	2	A	T	T	9	9	RNF181	T	4	4
SLC9A2	6549	broad.mit.edu	37	2	103324932	103324932	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:103324932G>T	uc002tca.2	+	12	2565	c.2423G>T	c.(2422-2424)GGG>GTG	p.G808V		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	solute carrier family 9 (sodium/hydrogen	808	Cytoplasmic (Potential).					integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			central_nervous_system(3)|skin(3)|breast(2)	8																		---	---	---	---	capture		Missense_Mutation	SNP	103324932	103324932	15209	2	G	T	T	43	43	SLC9A2	T	2	2
NCK2	8440	broad.mit.edu	37	2	106498213	106498213	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106498213G>T	uc002tdg.2	+	4	1098	c.656G>T	c.(655-657)GGG>GTG	p.G219V	NCK2_uc002tdh.2_Intron|NCK2_uc002tdi.2_Missense_Mutation_p.G219V	NM_003581	NP_003572	O43639	NCK2_HUMAN	NCK adaptor protein 2 isoform A	219	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																		---	---	---	---	capture		Missense_Mutation	SNP	106498213	106498213	10619	2	G	T	T	43	43	NCK2	T	2	2
PTPN4	5775	broad.mit.edu	37	2	120702715	120702715	+	Missense_Mutation	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:120702715A>G	uc002tmf.1	+	16	2185	c.1414A>G	c.(1414-1416)AAA>GAA	p.K472E	PTPN4_uc010flj.1_Missense_Mutation_p.K185E|PTPN4_uc010yyr.1_Missense_Mutation_p.K105E	NM_002830	NP_002821	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type	472						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			ovary(2)	2					Alendronate(DB00630)													---	---	---	---	capture		Missense_Mutation	SNP	120702715	120702715	13247	2	A	G	G	9	9	PTPN4	G	4	4
MCM6	4175	broad.mit.edu	37	2	136620287	136620287	+	Silent	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136620287C>A	uc002tuw.2	-	8	1186	c.1110G>T	c.(1108-1110)CTG>CTT	p.L370L		NM_005915	NP_005906	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	370	MCM.				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|identical protein binding				0				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)													---	---	---	---	capture		Silent	SNP	136620287	136620287	9780	2	C	A	A	29	29	MCM6	A	2	2
KCNJ3	3760	broad.mit.edu	37	2	155711340	155711340	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:155711340G>T	uc002tyv.1	+	3	1216	c.1021G>T	c.(1021-1023)GAT>TAT	p.D341Y	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel J3	341	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)													---	---	---	---	capture		Missense_Mutation	SNP	155711340	155711340	8357	2	G	T	T	45	45	KCNJ3	T	2	2
GALNT5	11227	broad.mit.edu	37	2	158140834	158140834	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:158140834A>T	uc002tzg.2	+	2	1750	c.1495A>T	c.(1495-1497)AGT>TGT	p.S499C	GALNT5_uc010zci.1_RNA	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	N-acetylgalactosaminyltransferase 5	499	Catalytic subdomain A.|Lumenal (Potential).				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(3)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	158140834	158140834	6480	2	A	T	T	7	7	GALNT5	T	4	4
FAP	2191	broad.mit.edu	37	2	163031394	163031394	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:163031394G>T	uc002ucd.2	-	22	2160	c.1952C>A	c.(1951-1953)TCC>TAC	p.S651Y	FAP_uc010fpc.2_Missense_Mutation_p.S200Y|FAP_uc010zct.1_Missense_Mutation_p.S626Y|FAP_uc010fpd.2_Missense_Mutation_p.S130Y	NM_004460	NP_004451	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha subunit	651	Extracellular (Potential).				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	163031394	163031394	5909	2	G	T	T	41	41	FAP	T	2	2
CSRNP3	80034	broad.mit.edu	37	2	166451624	166451624	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:166451624C>A	uc002udf.2	+	4	425	c.49C>A	c.(49-51)CCC>ACC	p.P17T	CSRNP3_uc002udg.2_Missense_Mutation_p.P17T	NM_024969	NP_079245	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	17	Ser-rich.				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																		---	---	---	---	capture		Missense_Mutation	SNP	166451624	166451624	4106	2	C	A	A	18	18	CSRNP3	A	2	2
LRP2	4036	broad.mit.edu	37	2	170135900	170135900	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:170135900G>A	uc002ues.2	-	12	1760	c.1547C>T	c.(1546-1548)GCC>GTC	p.A516V	LRP2_uc010zdf.1_Missense_Mutation_p.A516V	NM_004525	NP_004516	P98164	LRP2_HUMAN	low density lipoprotein-related protein 2	516	LDL-receptor class B 2.|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)													---	---	---	---	capture		Missense_Mutation	SNP	170135900	170135900	9329	2	G	A	A	42	42	LRP2	A	2	2
TTN	7273	broad.mit.edu	37	2	179434250	179434250	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179434250G>A	uc010zfg.1	-	275	69129	c.68905C>T	c.(68905-68907)CGT>TGT	p.R22969C	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16664C|TTN_uc010zfi.1_Missense_Mutation_p.R16597C|TTN_uc010zfj.1_Missense_Mutation_p.R16472C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23896							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)															---	---	---	---	capture		Missense_Mutation	SNP	179434250	179434250	17290	2	G	A	A	37	37	TTN	A	1	1
DNAJC10	54431	broad.mit.edu	37	2	183623609	183623609	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:183623609G>T	uc002uow.1	+	20	2404	c.1989G>T	c.(1987-1989)TGG>TGT	p.W663C	DNAJC10_uc002uox.1_RNA|DNAJC10_uc002uoy.1_RNA|DNAJC10_uc002uoz.1_Missense_Mutation_p.W617C|DNAJC10_uc010fro.1_RNA	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	663					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			ovary(1)|large_intestine(1)|breast(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)															---	---	---	---	capture		Missense_Mutation	SNP	183623609	183623609	4812	2	G	T	T	43	43	DNAJC10	T	2	2
EPHA4	2043	broad.mit.edu	37	2	222428482	222428482	+	Silent	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:222428482A>T	uc002vmq.2	-	3	834	c.792T>A	c.(790-792)GCT>GCA	p.A264A	EPHA4_uc002vmr.2_Silent_p.A264A|EPHA4_uc010zlm.1_Silent_p.A205A|EPHA4_uc010zln.1_Silent_p.A264A	NM_004438	NP_004429	P54764	EPHA4_HUMAN	ephrin receptor EphA4 precursor	264	Cys-rich.|Extracellular (Potential).					integral to plasma membrane	ATP binding|ephrin receptor activity			lung(6)|large_intestine(2)|central_nervous_system(2)|urinary_tract(1)|skin(1)	12		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)														---	---	---	---	capture		Silent	SNP	222428482	222428482	5362	2	A	T	T	7	7	EPHA4	T	4	4
DOCK10	55619	broad.mit.edu	37	2	225670849	225670849	+	Missense_Mutation	SNP	T	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:225670849T>G	uc010fwz.1	-	34	4047	c.3808A>C	c.(3808-3810)ATA>CTA	p.I1270L	DOCK10_uc002vob.2_Missense_Mutation_p.I1264L|DOCK10_uc002voa.2_5'Flank|DOCK10_uc002voc.2_Missense_Mutation_p.I133L	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1270							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)														---	---	---	---	capture		Missense_Mutation	SNP	225670849	225670849	4869	2	T	G	G	51	51	DOCK10	G	4	4
ALPP	250	broad.mit.edu	37	2	233244989	233244989	+	Missense_Mutation	SNP	G	T	T	rs141711512		TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233244989G>T	uc002vsq.2	+	6	916	c.751G>T	c.(751-753)GAC>TAC	p.D251Y	ALPP_uc002vsr.2_5'Flank	NM_001632	NP_001623	P05187	PPB1_HUMAN	placental alkaline phosphatase preproprotein	251						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			ovary(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)														---	---	---	---	capture		Missense_Mutation	SNP	233244989	233244989	551	2	G	T	T	41	41	ALPP	T	2	2
ALPPL2	251	broad.mit.edu	37	2	233273070	233273070	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:233273070G>T	uc002vss.3	+	6	795	c.742G>T	c.(742-744)GAC>TAC	p.D248Y		NM_031313	NP_112603	P10696	PPBN_HUMAN	placental-like alkaline phosphatase	248					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)													---	---	---	---	capture		Missense_Mutation	SNP	233273070	233273070	552	2	G	T	T	41	41	ALPPL2	T	2	2
UGT1A6	54578	broad.mit.edu	37	2	234601653	234601653	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:234601653G>T	uc002vuv.3	+	1	142	c.3G>T	c.(1-3)ATG>ATT	p.M1I	UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Missense_Mutation_p.M1I	NM_001072	NP_001063	P19224	UD16_HUMAN	UDP glycosyltransferase 1 family, polypeptide A6	1					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity				0		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)														---	---	---	---	capture		Missense_Mutation	SNP	234601653	234601653	17507	2	G	T	T	47	47	UGT1A6	T	2	2
PDCD1	5133	broad.mit.edu	37	2	242794944	242794944	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242794944G>T	uc002wcq.3	-	2	333	c.265C>A	c.(265-267)CCC>ACC	p.P89T	PDCD1_uc010fzs.2_Missense_Mutation_p.P20T|PDCD1_uc010fzt.2_Intron	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	programmed cell death 1 precursor	89	Ig-like V-type.|Extracellular (Potential).				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			ovary(1)	1		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;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)														---	---	---	---	capture		Missense_Mutation	SNP	242794944	242794944	12036	2	G	T	T	42	42	PDCD1	T	2	2
TMX4	56255	broad.mit.edu	37	20	7963243	7963243	+	Silent	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:7963243A>T	uc002wmx.1	-	8	838	c.705T>A	c.(703-705)GCT>GCA	p.A235A		NM_021156	NP_066979	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	235	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane					0																		---	---	---	---	capture		Silent	SNP	7963243	7963243	16810	20	A	T	T	11	11	TMX4	T	4	4
C20orf12	55184	broad.mit.edu	37	20	18433327	18433327	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:18433327C>A	uc010zsa.1	-	6	741	c.532G>T	c.(532-534)GAG>TAG	p.E178*	C20orf12_uc002wqr.3_Splice_Site|C20orf12_uc002wqs.3_Splice_Site_p.R9_splice|C20orf12_uc002wqq.3_Splice_Site_p.E159_splice|C20orf12_uc002wqu.1_Intron|C20orf12_uc010gct.1_Intron	NM_001099407	NP_001092877	Q9NVP4	CT012_HUMAN	hypothetical protein LOC55184	Error:Variant_position_missing_in_Q9NVP4_after_alignment						intracellular	zinc ion binding			ovary(1)	1		Myeloproliferative disorder(85;0.0122)																---	---	---	---	capture		Nonsense_Mutation	SNP	18433327	18433327	2161	20	C	A	A	32	32	C20orf12	A	5	2
C20orf26	26074	broad.mit.edu	37	20	20232401	20232401	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:20232401G>C	uc002wru.2	+	20	2398	c.2322G>C	c.(2320-2322)CAG>CAC	p.Q774H	C20orf26_uc010zse.1_Missense_Mutation_p.Q754H|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Missense_Mutation_p.Q130H	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	hypothetical protein LOC26074	774										ovary(3)|pancreas(1)	4				READ - Rectum adenocarcinoma(2;0.171)														---	---	---	---	capture		Missense_Mutation	SNP	20232401	20232401	2186	20	G	C	C	36	36	C20orf26	C	3	3
FAM83C	128876	broad.mit.edu	37	20	33874542	33874542	+	Silent	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33874542C>A	uc010zux.1	-	4	2158	c.2040G>T	c.(2038-2040)CTG>CTT	p.L680L	EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Silent_p.L335L	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	hypothetical protein LOC128876	680										ovary(2)	2			BRCA - Breast invasive adenocarcinoma(18;0.00252)															---	---	---	---	capture		Silent	SNP	33874542	33874542	5861	20	C	A	A	21	21	FAM83C	A	2	2
SEMG2	6407	broad.mit.edu	37	20	43850949	43850949	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:43850949G>A	uc010ggz.2	+	2	733	c.676G>A	c.(676-678)GTG>ATG	p.V226M	SEMG2_uc002xnk.2_Missense_Mutation_p.V226M|SEMG2_uc002xnl.2_Missense_Mutation_p.V226M	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	semenogelin II precursor	226	2-2.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			skin(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---	capture		Missense_Mutation	SNP	43850949	43850949	14531	20	G	A	A	40	40	SEMG2	A	1	1
PIGT	51604	broad.mit.edu	37	20	44048147	44048147	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44048147G>T	uc002xoh.1	+	5	671	c.598G>T	c.(598-600)GGC>TGC	p.G200C	PIGT_uc010ghb.1_Missense_Mutation_p.G190C|PIGT_uc010zwt.1_RNA|PIGT_uc010ghd.1_Missense_Mutation_p.G107C|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Missense_Mutation_p.G163C|PIGT_uc010ghf.1_Missense_Mutation_p.G153C|PIGT_uc002xoj.1_Missense_Mutation_p.G200C|PIGT_uc002xok.1_Splice_Site_p.G165_splice|PIGT_uc010zwu.1_Translation_Start_Site|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Translation_Start_Site|PIGT_uc010zww.1_Missense_Mutation_p.G144C|PIGT_uc010zwx.1_Missense_Mutation_p.G35C|PIGT_uc010zwy.1_Missense_Mutation_p.G98C|PIGT_uc010zwz.1_Translation_Start_Site|PIGT_uc010zxa.1_Missense_Mutation_p.G38C|PIGT_uc002xol.1_Missense_Mutation_p.G56C|PIGT_uc010zxb.1_5'Flank	NM_015937	NP_057021	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis,	200	Lumenal (Potential).				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			pancreas(1)	1		Myeloproliferative disorder(115;0.0122)																---	---	---	---	capture		Missense_Mutation	SNP	44048147	44048147	12323	20	G	T	T	35	35	PIGT	T	2	2
MMP9	4318	broad.mit.edu	37	20	44639932	44639932	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44639932G>C	uc002xqz.2	+	5	819	c.800G>C	c.(799-801)CGG>CCG	p.R267P		NM_004994	NP_004985	P14780	MMP9_HUMAN	matrix metalloproteinase 9 preproprotein	267	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			ovary(1)|pancreas(1)	2		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)													---	---	---	---	capture		Missense_Mutation	SNP	44639932	44639932	10060	20	G	C	C	39	39	MMP9	C	3	3
ZNFX1	57169	broad.mit.edu	37	20	47886894	47886894	+	Silent	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:47886894G>A	uc002xui.2	-	3	1702	c.1455C>T	c.(1453-1455)TGC>TGT	p.C485C		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	485							metal ion binding			ovary(2)	2			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)															---	---	---	---	capture		Silent	SNP	47886894	47886894	18809	20	G	A	A	34	34	ZNFX1	A	2	2
ATP9A	10079	broad.mit.edu	37	20	50273654	50273654	+	Silent	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:50273654C>A	uc002xwg.1	-	14	1329	c.1329G>T	c.(1327-1329)ACG>ACT	p.T443T	ATP9A_uc010gih.1_Silent_p.T307T|ATP9A_uc002xwf.1_Intron	NM_006045	NP_006036	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	443	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																		---	---	---	---	capture		Silent	SNP	50273654	50273654	1217	20	C	A	A	27	27	ATP9A	A	1	1
TSHZ2	128553	broad.mit.edu	37	20	51871519	51871519	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:51871519G>C	uc002xwo.2	+	2	2478	c.1522G>C	c.(1522-1524)GAT>CAT	p.D508H		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	508					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)															---	---	---	---	capture		Missense_Mutation	SNP	51871519	51871519	17175	20	G	C	C	33	33	TSHZ2	C	3	3
CASS4	57091	broad.mit.edu	37	20	55033731	55033731	+	Silent	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:55033731G>T	uc002xxp.2	+	7	2514	c.2289G>T	c.(2287-2289)GCG>GCT	p.A763A	CASS4_uc002xxr.2_Silent_p.A763A|CASS4_uc010zze.1_Silent_p.A709A|CASS4_uc010gio.2_Silent_p.A326A	NM_001164116	NP_001157588	Q9NQ75	CASS4_HUMAN	HEF-like protein isoform a	763					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	55033731	55033731	2802	20	G	T	T	38	38	CASS4	T	1	1
BIRC7	79444	broad.mit.edu	37	20	61867797	61867797	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61867797G>T	uc002yej.2	+	1	522	c.349G>T	c.(349-351)GGC>TGC	p.G117C	BIRC7_uc010gkc.1_Missense_Mutation_p.G117C|BIRC7_uc002yei.2_Missense_Mutation_p.G117C|hsa-mir-3196|MI0014241_5'Flank	NM_139317	NP_647478	Q96CA5	BIRC7_HUMAN	livin inhibitor of apoptosis isoform alpha	117	BIR.				activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			ovary(1)|lung(1)|kidney(1)	3	all_cancers(38;2.72e-09)																	---	---	---	---	capture		Missense_Mutation	SNP	61867797	61867797	1464	20	G	T	T	35	35	BIRC7	T	2	2
MYT1	4661	broad.mit.edu	37	20	62839118	62839118	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62839118C>A	uc002yii.2	+	7	933	c.569C>A	c.(568-570)CCA>CAA	p.P190Q	MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	myelin transcription factor 1	190					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)																	---	---	---	---	capture		Missense_Mutation	SNP	62839118	62839118	10501	20	C	A	A	21	21	MYT1	A	2	2
KRTAP27-1	643812	broad.mit.edu	37	21	31709843	31709843	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:31709843G>T	uc002ynx.1	-	1	170	c.144C>A	c.(142-144)GAC>GAA	p.D48E		NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	48						intermediate filament				ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	31709843	31709843	8866	21	G	T	T	48	48	KRTAP27-1	T	2	2
TTC3	7267	broad.mit.edu	37	21	38460573	38460573	+	Missense_Mutation	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38460573A>G	uc002yvz.2	+	4	370	c.265A>G	c.(265-267)ATC>GTC	p.I89V	TTC3_uc011aee.1_Intron|TTC3_uc002ywa.2_Missense_Mutation_p.I89V|TTC3_uc002ywb.2_Missense_Mutation_p.I89V|TTC3_uc010gnf.2_5'UTR|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Missense_Mutation_p.I89V	NM_001001894	NP_001001894	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	89					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)																---	---	---	---	capture		Missense_Mutation	SNP	38460573	38460573	17252	21	A	G	G	8	8	TTC3	G	4	4
BACE2	25825	broad.mit.edu	37	21	42647528	42647528	+	Silent	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:42647528C>T	uc002yyw.2	+	9	1997	c.1534C>T	c.(1534-1536)CTG>TTG	p.L512L	BACE2_uc002yyx.2_Silent_p.L462L|BACE2_uc002yyy.2_3'UTR|BACE2_uc010goo.2_RNA	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2 isoform A	512	Cytoplasmic (Potential).				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			ovary(2)	2		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)																---	---	---	---	capture		Silent	SNP	42647528	42647528	1303	21	C	T	T	32	32	BACE2	T	2	2
KRTAP12-3	386683	broad.mit.edu	37	21	46078016	46078016	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:46078016C>A	uc002zft.2	+	1	168	c.120C>A	c.(118-120)TGC>TGA	p.C40*	C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	keratin associated protein 12-3	40	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	46078016	46078016	8835	21	C	A	A	25	25	KRTAP12-3	A	5	2
DEPDC5	9681	broad.mit.edu	37	22	32302363	32302363	+	Silent	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:32302363G>T	uc003als.2	+	42	4741	c.4599G>T	c.(4597-4599)GGG>GGT	p.G1533G	DEPDC5_uc011als.1_Silent_p.G1464G|DEPDC5_uc011alu.1_Silent_p.G1564G|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Silent_p.G1555G|DEPDC5_uc003alu.2_Silent_p.G982G|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Silent_p.G831G|DEPDC5_uc011alx.1_Silent_p.G381G|DEPDC5_uc010gwk.2_Nonsense_Mutation_p.G569*|DEPDC5_uc011aly.1_Silent_p.G381G	NM_014662	NP_055477	O75140	DEPD5_HUMAN	DEP domain containing 5 isoform 1	1533					intracellular signal transduction					ovary(4)|central_nervous_system(3)|pancreas(1)	8																		---	---	---	---	capture		Silent	SNP	32302363	32302363	4621	22	G	T	T	43	43	DEPDC5	T	2	2
LARGE	9215	broad.mit.edu	37	22	33700389	33700389	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:33700389C>A	uc003and.3	-	13	2135	c.1556G>T	c.(1555-1557)GGC>GTC	p.G519V	LARGE_uc011amd.1_Missense_Mutation_p.G318V|LARGE_uc003ane.3_Missense_Mutation_p.G519V|LARGE_uc010gwp.2_Missense_Mutation_p.G467V|LARGE_uc011ame.1_Missense_Mutation_p.G451V|LARGE_uc011amf.1_Missense_Mutation_p.G519V	NM_004737	NP_004728	O95461	LARGE_HUMAN	like-glycosyltransferase	519	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)																---	---	---	---	capture		Missense_Mutation	SNP	33700389	33700389	8950	22	C	A	A	26	26	LARGE	A	2	2
TRIOBP	11078	broad.mit.edu	37	22	38119338	38119338	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38119338G>A	uc003atr.2	+	7	1046	c.775G>A	c.(775-777)GCT>ACT	p.A259T	TRIOBP_uc003atu.2_Missense_Mutation_p.A87T|TRIOBP_uc003atq.1_Missense_Mutation_p.A259T|TRIOBP_uc003ats.1_Missense_Mutation_p.A87T	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	259					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)	1	Melanoma(58;0.0574)																	---	---	---	---	capture		Missense_Mutation	SNP	38119338	38119338	17103	22	G	A	A	42	42	TRIOBP	A	2	2
CACNA1I	8911	broad.mit.edu	37	22	39996543	39996543	+	Missense_Mutation	SNP	T	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39996543T>G	uc003ayc.2	+	3	367	c.367T>G	c.(367-369)TTT>GTT	p.F123V	CACNA1I_uc003ayd.2_Missense_Mutation_p.F123V|CACNA1I_uc003aye.2_Missense_Mutation_p.F38V|CACNA1I_uc003ayf.2_Missense_Mutation_p.F38V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type,	123	I.|Helical; Name=S2 of repeat I; (Potential).				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(1)|central_nervous_system(1)	2	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)													---	---	---	---	capture		Missense_Mutation	SNP	39996543	39996543	2662	22	T	G	G	56	56	CACNA1I	G	4	4
CPT1B	1375	broad.mit.edu	37	22	51007796	51007796	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:51007796G>C	uc003bmk.3	-	18	2452	c.2290C>G	c.(2290-2292)CTT>GTT	p.L764V	CPT1B_uc003bml.2_Missense_Mutation_p.L764V|CPT1B_uc003bmm.2_Missense_Mutation_p.L764V|CPT1B_uc003bmo.2_Missense_Mutation_p.L764V|CPT1B_uc011asa.1_Missense_Mutation_p.L730V|CPT1B_uc003bmn.2_Missense_Mutation_p.L764V|CPT1B_uc011asb.1_Missense_Mutation_p.L683V|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.L559V|uc003bmr.1_5'Flank	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B isoform a	764	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)														---	---	---	---	capture		Missense_Mutation	SNP	51007796	51007796	3971	22	G	C	C	33	33	CPT1B	C	3	3
SLC6A6	6533	broad.mit.edu	37	3	14509682	14509682	+	Missense_Mutation	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:14509682A>G	uc010heg.2	+	16	1349	c.1058A>G	c.(1057-1059)CAA>CGA	p.Q353R	SLC6A6_uc003byq.2_Missense_Mutation_p.Q353R|SLC6A6_uc003byr.2_Intron	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter	353					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			ovary(1)	1																OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	14509682	14509682	15185	3	A	G	G	5	5	SLC6A6	G	4	4
KAT2B	8850	broad.mit.edu	37	3	20136868	20136868	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:20136868G>T	uc003cbq.2	+	3	990	c.544G>T	c.(544-546)GAT>TAT	p.D182Y		NM_003884	NP_003875	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	182					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																		---	---	---	---	capture		Missense_Mutation	SNP	20136868	20136868	8286	3	G	T	T	33	33	KAT2B	T	2	2
MLH1	4292	broad.mit.edu	37	3	37070325	37070325	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:37070325G>T	uc003cgl.2	+	13	1520	c.1460G>T	c.(1459-1461)CGA>CTA	p.R487L	MLH1_uc011aye.1_Missense_Mutation_p.R246L|MLH1_uc011ayb.1_Missense_Mutation_p.R246L|MLH1_uc010hge.2_Missense_Mutation_p.R487L|MLH1_uc003cgn.3_Missense_Mutation_p.R246L|MLH1_uc011ayc.1_Missense_Mutation_p.R389L|MLH1_uc011ayd.1_Missense_Mutation_p.R246L|MLH1_uc003cgo.2_Missense_Mutation_p.R246L|MLH1_uc010hgi.1_Missense_Mutation_p.R129L|MLH1_uc010hgj.1_Missense_Mutation_p.R129L|MLH1_uc010hgk.2_Missense_Mutation_p.R129L|MLH1_uc010hgl.1_Missense_Mutation_p.R62L|MLH1_uc010hgn.2_Missense_Mutation_p.R129L|MLH1_uc010hgm.2_RNA|MLH1_uc010hgo.2_Missense_Mutation_p.R129L	NM_000249	NP_000240	P40692	MLH1_HUMAN	MutL protein homolog 1	487	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1)	77							1	D|Mis|N|F|S		colorectal|endometrial|ovarian|CNS	colorectal|endometrial|ovarian|CNS		MMR	Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome				---	---	---	---	capture		Missense_Mutation	SNP	37070325	37070325	10007	3	G	T	T	37	37	MLH1	T	1	1
DLEC1	9940	broad.mit.edu	37	3	38087137	38087137	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38087137G>T	uc003cho.1	+	2	536	c.515G>T	c.(514-516)AGC>ATC	p.S172I	DLEC1_uc003chp.1_Missense_Mutation_p.S172I|DLEC1_uc010hgv.1_Missense_Mutation_p.S172I	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1 isoform	172					negative regulation of cell proliferation	cytoplasm				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)														---	---	---	---	capture		Missense_Mutation	SNP	38087137	38087137	4732	3	G	T	T	34	34	DLEC1	T	2	2
ACAA1	30	broad.mit.edu	37	3	38167686	38167686	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38167686C>A	uc003cht.2	-	9	1171	c.964G>T	c.(964-966)GCC>TCC	p.A322S	ACAA1_uc003chu.2_Intron|ACAA1_uc010hgy.2_Missense_Mutation_p.A281S|ACAA1_uc010hgz.2_Missense_Mutation_p.A322S|ACAA1_uc003chv.2_Missense_Mutation_p.A170S	NM_001607	NP_001598	P09110	THIK_HUMAN	acetyl-Coenzyme A acyltransferase 1 isoform a	322					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)														---	---	---	---	capture		Missense_Mutation	SNP	38167686	38167686	105	3	C	A	A	25	25	ACAA1	A	2	2
SCN10A	6336	broad.mit.edu	37	3	38798291	38798291	+	Silent	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38798291C>A	uc003ciq.2	-	9	1164	c.1164G>T	c.(1162-1164)CTG>CTT	p.L388L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	388	Helical; Name=S6 of repeat I; (Potential).|I.				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)													---	---	---	---	capture		Silent	SNP	38798291	38798291	14394	3	C	A	A	21	21	SCN10A	A	2	2
SCN10A	6336	broad.mit.edu	37	3	38805035	38805035	+	Nonsense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38805035T>A	uc003ciq.2	-	5	652	c.652A>T	c.(652-654)AGA>TGA	p.R218*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	218	I.|Helical; Voltage-sensor; Name=S4 of repeat I; (Potential).				sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)													---	---	---	---	capture		Nonsense_Mutation	SNP	38805035	38805035	14394	3	T	A	A	55	55	SCN10A	A	5	4
KBTBD5	131377	broad.mit.edu	37	3	42728049	42728049	+	Silent	SNP	C	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:42728049C>G	uc003clv.1	+	1	1039	c.939C>G	c.(937-939)GGC>GGG	p.G313G		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	kelch repeat and BTB (POZ) domain containing 5	313										ovary(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)														---	---	---	---	capture		Silent	SNP	42728049	42728049	8301	3	C	G	G	25	25	KBTBD5	G	3	3
ANO10	55129	broad.mit.edu	37	3	43640090	43640090	+	Nonsense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:43640090T>A	uc003cmv.2	-	4	577	c.406A>T	c.(406-408)AGA>TGA	p.R136*	ANO10_uc011azs.1_Nonsense_Mutation_p.R136*|ANO10_uc003cmw.2_Nonsense_Mutation_p.R70*|ANO10_uc010hil.2_Nonsense_Mutation_p.R136*|ANO10_uc011azt.1_Intron	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	transmembrane protein 16K	136	Cytoplasmic (Potential).				cell death	chloride channel complex	chloride channel activity			ovary(2)	2																		---	---	---	---	capture		Nonsense_Mutation	SNP	43640090	43640090	704	3	T	A	A	53	53	ANO10	A	5	4
PHLDB2	90102	broad.mit.edu	37	3	111664201	111664201	+	Silent	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:111664201A>G	uc010hqa.2	+	9	2895	c.2484A>G	c.(2482-2484)AAA>AAG	p.K828K	PHLDB2_uc003dyc.2_Silent_p.K812K|PHLDB2_uc003dyd.2_Silent_p.K785K|PHLDB2_uc003dyg.2_Silent_p.K828K|PHLDB2_uc003dyh.2_Silent_p.K785K|PHLDB2_uc003dyi.2_Silent_p.K414K	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B,	828						cytoplasm|intermediate filament cytoskeleton|plasma membrane				ovary(4)|skin(2)	6																		---	---	---	---	capture		Silent	SNP	111664201	111664201	12276	3	A	G	G	3	3	PHLDB2	G	4	4
CD86	942	broad.mit.edu	37	3	121822396	121822396	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121822396G>T	uc003eet.2	+	3	218	c.102G>T	c.(100-102)GAG>GAT	p.E34D	CD86_uc011bjo.1_5'UTR|CD86_uc011bjp.1_Intron|CD86_uc003eeu.2_Missense_Mutation_p.E28D	NM_175862	NP_787058	P42081	CD86_HUMAN	CD86 antigen isoform 1	34	Ig-like V-type.|Extracellular (Potential).				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			pancreas(1)|skin(1)	2				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)													---	---	---	---	capture		Missense_Mutation	SNP	121822396	121822396	3171	3	G	T	T	33	33	CD86	T	2	2
H1FOO	132243	broad.mit.edu	37	3	129267964	129267964	+	Missense_Mutation	SNP	C	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129267964C>G	uc003emu.2	+	3	504	c.499C>G	c.(499-501)CCT>GCT	p.P167A	H1FOO_uc003emv.2_Missense_Mutation_p.P28A	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	167	Nuclear localization signal (Potential).				meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	129267964	129267964	7202	3	C	G	G	22	22	H1FOO	G	3	3
COL6A6	131873	broad.mit.edu	37	3	130282165	130282165	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130282165G>T	uc010htl.2	+	2	349	c.318G>T	c.(316-318)CAG>CAT	p.Q106H		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	106	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	130282165	130282165	3841	3	G	T	T	33	33	COL6A6	T	2	2
STAG1	10274	broad.mit.edu	37	3	136136806	136136806	+	Missense_Mutation	SNP	T	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136136806T>C	uc003era.1	-	21	2409	c.2117A>G	c.(2116-2118)GAT>GGT	p.D706G	STAG1_uc003erb.1_Missense_Mutation_p.D706G|STAG1_uc003erc.1_Missense_Mutation_p.D480G|STAG1_uc010hua.1_Missense_Mutation_p.D569G	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	706					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	136136806	136136806	15760	3	T	C	C	50	50	STAG1	C	4	4
A4GNT	51146	broad.mit.edu	37	3	137843132	137843132	+	Missense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:137843132C>T	uc003ers.2	-	3	1199	c.997G>A	c.(997-999)GGG>AGG	p.G333R		NM_016161	NP_057245	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	333	Lumenal (Potential).				protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	137843132	137843132	8	3	C	T	T	21	21	A4GNT	T	2	2
NMNAT3	349565	broad.mit.edu	37	3	139297773	139297773	+	Silent	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:139297773G>T	uc003etj.2	-	2	274	c.234C>A	c.(232-234)ATC>ATA	p.I78I	NMNAT3_uc003etk.2_Silent_p.I41I|NMNAT3_uc003etl.2_RNA|NMNAT3_uc010hul.2_Intron	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	nicotinamide mononucleotide adenylyltransferase	78					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity				0																		---	---	---	---	capture		Silent	SNP	139297773	139297773	10903	3	G	T	T	41	41	NMNAT3	T	2	2
PTX3	5806	broad.mit.edu	37	3	157160709	157160709	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:157160709A>T	uc003fbl.3	+	3	1230	c.1087A>T	c.(1087-1089)ATT>TTT	p.I363F	VEPH1_uc003fbj.1_Intron|VEPH1_uc003fbk.1_Intron|VEPH1_uc010hvu.1_Intron	NM_002852	NP_002843	P26022	PTX3_HUMAN	pentraxin 3 precursor	363	Pentaxin.				inflammatory response	extracellular region				central_nervous_system(1)	1			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)															---	---	---	---	capture		Missense_Mutation	SNP	157160709	157160709	13280	3	A	T	T	16	16	PTX3	T	4	4
SLITRK3	22865	broad.mit.edu	37	3	164908179	164908179	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164908179C>A	uc003fej.3	-	2	884	c.440G>T	c.(439-441)GGC>GTC	p.G147V	SLITRK3_uc003fek.2_Missense_Mutation_p.G147V	NM_014926	NP_055741	O94933	SLIK3_HUMAN	slit and trk like 3 protein precursor	147	LRR 3.|Extracellular (Potential).					integral to membrane				ovary(6)|skin(3)|pancreas(1)	10															HNSCC(40;0.11)			---	---	---	---	capture		Missense_Mutation	SNP	164908179	164908179	15242	3	C	A	A	26	26	SLITRK3	A	2	2
GHSR	2693	broad.mit.edu	37	3	172166131	172166131	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:172166131G>A	uc003fib.1	-	1	73	c.73C>T	c.(73-75)CCC>TCC	p.P25S	GHSR_uc011bpv.1_Missense_Mutation_p.P25S	NM_198407	NP_940799	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor isoform 1a	25	Extracellular (Potential).				actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			lung(3)|ovary(1)|central_nervous_system(1)	5	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)															---	---	---	---	capture		Missense_Mutation	SNP	172166131	172166131	6643	3	G	A	A	43	43	GHSR	A	2	2
NLGN1	22871	broad.mit.edu	37	3	173993318	173993318	+	Splice_Site	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:173993318G>T	uc003fio.1	+	5	1282	c.859_splice	c.e5+1	p.G287_splice	NLGN1_uc010hww.1_Splice_Site_p.G327_splice|NLGN1_uc003fip.1_Splice_Site_p.G287_splice	NM_014932	NP_055747			neuroligin 1						calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)															---	---	---	---	capture		Splice_Site	SNP	173993318	173993318	10864	3	G	T	T	44	44	NLGN1	T	5	2
NLGN1	22871	broad.mit.edu	37	3	173998935	173998935	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:173998935G>T	uc003fio.1	+	7	2737	c.2314G>T	c.(2314-2316)GAT>TAT	p.D772Y	NLGN1_uc003fip.1_Missense_Mutation_p.D772Y	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	789	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1)	7	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)															---	---	---	---	capture		Missense_Mutation	SNP	173998935	173998935	10864	3	G	T	T	45	45	NLGN1	T	2	2
EPHB3	2049	broad.mit.edu	37	3	184297702	184297702	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:184297702G>T	uc003foz.2	+	11	2589	c.2152G>T	c.(2152-2154)GCC>TCC	p.A718S		NM_004443	NP_004434	P54753	EPHB3_HUMAN	ephrin receptor EphB3 precursor	718	Cytoplasmic (Potential).|Protein kinase.					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)															---	---	---	---	capture		Missense_Mutation	SNP	184297702	184297702	5369	3	G	T	T	38	38	EPHB3	T	1	1
C3orf59	151963	broad.mit.edu	37	3	192516749	192516749	+	Missense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:192516749C>T	uc011bsp.1	-	2	1223	c.902G>A	c.(901-903)TGC>TAC	p.C301Y		NM_178496	NP_848591	Q8IYB1	M21D2_HUMAN	hypothetical protein LOC151963	301											0	all_cancers(143;1.56e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.8e-18)|LUSC - Lung squamous cell carcinoma(58;8.04e-06)|Lung(62;8.62e-06)	GBM - Glioblastoma multiforme(46;3.86e-05)														---	---	---	---	capture		Missense_Mutation	SNP	192516749	192516749	2330	3	C	T	T	25	25	C3orf59	T	2	2
OPA1	4976	broad.mit.edu	37	3	193372726	193372726	+	Silent	SNP	G	T	T	rs138114609	by1000genomes	TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193372726G>T	uc003ftm.2	+	20	2157	c.1923G>T	c.(1921-1923)GCG>GCT	p.A641A	OPA1_uc003ftg.2_Silent_p.A696A|OPA1_uc003fth.2_Silent_p.A660A|OPA1_uc003fti.2_Silent_p.A678A|OPA1_uc003ftj.2_Silent_p.A659A|OPA1_uc003ftk.2_Silent_p.A642A|OPA1_uc003ftl.2_Silent_p.A623A|OPA1_uc003ftn.2_Silent_p.A605A	NM_015560	NP_056375	O60313	OPA1_HUMAN	optic atrophy 1 isoform 1	641	Mitochondrial intermembrane (By similarity).				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding				0	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)														---	---	---	---	capture		Silent	SNP	193372726	193372726	11277	3	G	T	T	38	38	OPA1	T	1	1
LSG1	55341	broad.mit.edu	37	3	194373764	194373764	+	Missense_Mutation	SNP	C	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194373764C>G	uc003fui.2	-	8	1182	c.867G>C	c.(865-867)AGG>AGC	p.R289S		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	289					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity				0	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)														---	---	---	---	capture		Missense_Mutation	SNP	194373764	194373764	9425	3	C	G	G	22	22	LSG1	G	3	3
MUC4	4585	broad.mit.edu	37	3	195481244	195481244	+	Splice_Site	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195481244C>A	uc011bto.1	-	20	15245	c.14785_splice	c.e20-1	p.V4929_splice	MUC4_uc010hzq.2_5'Flank|MUC4_uc003fuz.2_Splice_Site_p.V655_splice|MUC4_uc003fva.2_Splice_Site_p.V537_splice|MUC4_uc003fvb.2_Splice_Site_p.V573_splice|MUC4_uc003fvc.2_Intron|MUC4_uc003fvd.2_Intron|MUC4_uc003fve.2_Splice_Site_p.V573_splice|MUC4_uc010hzr.2_Intron|MUC4_uc011btf.1_Splice_Site_p.V537_splice|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Splice_Site_p.V621_splice|MUC4_uc011bti.1_Splice_Site_p.V621_splice|MUC4_uc011btj.1_Splice_Site_p.V798_splice|MUC4_uc011btk.1_Splice_Site_p.V537_splice|MUC4_uc011btl.1_Splice_Site_p.V566_splice|MUC4_uc011btm.1_Splice_Site_p.V746_splice|MUC4_uc011btn.1_Splice_Site_p.V537_splice|MUC4_uc003fvo.2_Splice_Site_p.V821_splice|MUC4_uc003fvp.2_Splice_Site_p.V770_splice	NM_018406	NP_060876			mucin 4 isoform a						cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)														---	---	---	---	capture		Splice_Site	SNP	195481244	195481244	10372	3	C	A	A	24	24	MUC4	A	5	2
IQCG	84223	broad.mit.edu	37	3	197640840	197640840	+	Missense_Mutation	SNP	C	A	A	rs141338847		TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197640840C>A	uc003fyo.2	-	7	946	c.800G>T	c.(799-801)CGC>CTC	p.R267L	IQCG_uc003fyn.2_Missense_Mutation_p.R169L|IQCG_uc003fyp.2_Missense_Mutation_p.R267L|IQCG_uc003fyq.3_Missense_Mutation_p.R267L|IQCG_uc003fym.2_5'Flank	NM_001134435	NP_001127907	Q9H095	IQCG_HUMAN	IQ motif containing G	267											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)														---	---	---	---	capture		Missense_Mutation	SNP	197640840	197640840	8113	3	C	A	A	27	27	IQCG	A	1	1
LDB2	9079	broad.mit.edu	37	4	16504392	16504392	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:16504392G>T	uc003goz.2	-	8	1312	c.996C>A	c.(994-996)AAC>AAA	p.N332K	LDB2_uc003gpa.2_3'UTR|LDB2_uc003gpb.2_Missense_Mutation_p.N330K|LDB2_uc011bxh.1_Missense_Mutation_p.N304K|LDB2_uc010iee.2_3'UTR|LDB2_uc003goy.2_Missense_Mutation_p.N207K|LDB2_uc011bxi.1_3'UTR	NM_001290	NP_001281	O43679	LDB2_HUMAN	LIM domain binding 2 isoform a	332	LIM-binding domain (LID) (By similarity).						LIM domain binding|transcription cofactor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	16504392	16504392	9020	4	G	T	T	40	40	LDB2	T	1	1
CORIN	10699	broad.mit.edu	37	4	47809040	47809040	+	Missense_Mutation	SNP	T	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:47809040T>C	uc003gxm.2	-	2	181	c.88A>G	c.(88-90)ATG>GTG	p.M30V	CORIN_uc011bzg.1_Missense_Mutation_p.M30V|CORIN_uc011bzh.1_Missense_Mutation_p.M30V|CORIN_uc011bzi.1_Missense_Mutation_p.M30V|CORIN_uc003gxn.3_Missense_Mutation_p.M30V	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	corin	30	Cytoplasmic (Potential).				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	47809040	47809040	3890	4	T	C	C	51	51	CORIN	C	4	4
UGT2B11	10720	broad.mit.edu	37	4	70078389	70078389	+	Missense_Mutation	SNP	T	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:70078389T>G	uc003heh.2	-	2	781	c.772A>C	c.(772-774)ATG>CTG	p.M258L	uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family,	258					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	70078389	70078389	17515	4	T	G	G	49	49	UGT2B11	G	4	4
MEPE	56955	broad.mit.edu	37	4	88766576	88766576	+	Missense_Mutation	SNP	T	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:88766576T>C	uc003hqy.2	+	4	595	c.556T>C	c.(556-558)TAT>CAT	p.Y186H	MEPE_uc010ikn.2_Missense_Mutation_p.Y73H	NM_020203	NP_064588	Q9NQ76	MEPE_HUMAN	matrix, extracellular phosphoglycoprotein with	186					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			ovary(1)|lung(1)|skin(1)	3		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)														---	---	---	---	capture		Missense_Mutation	SNP	88766576	88766576	9867	4	T	C	C	61	61	MEPE	C	4	4
UNC5C	8633	broad.mit.edu	37	4	96171649	96171649	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96171649A>T	uc003htp.1	-	5	918	c.764T>A	c.(763-765)GTC>GAC	p.V255D	UNC5C_uc010ilc.1_Missense_Mutation_p.V255D|UNC5C_uc003htq.2_Missense_Mutation_p.V255D	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	255	Extracellular (Potential).|Ig-like C2-type.				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)														---	---	---	---	capture		Missense_Mutation	SNP	96171649	96171649	17551	4	A	T	T	10	10	UNC5C	T	4	4
KIAA1109	84162	broad.mit.edu	37	4	123264619	123264619	+	Missense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123264619C>T	uc003ieh.2	+	71	12452	c.12407C>T	c.(12406-12408)TCA>TTA	p.S4136L	KIAA1109_uc003iem.2_Missense_Mutation_p.S492L|KIAA1109_uc003ien.2_Missense_Mutation_p.S70L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	4136	Ser-rich.				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12																		---	---	---	---	capture		Missense_Mutation	SNP	123264619	123264619	8516	4	C	T	T	29	29	KIAA1109	T	2	2
MARCH6	10299	broad.mit.edu	37	5	10403543	10403543	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:10403543G>C	uc003jet.1	+	15	1405	c.1222G>C	c.(1222-1224)GAT>CAT	p.D408H	MARCH6_uc011cmu.1_Missense_Mutation_p.D360H|MARCH6_uc003jeu.1_Missense_Mutation_p.D106H|MARCH6_uc011cmv.1_Missense_Mutation_p.D303H	NM_005885	NP_005876	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6	408	Extracellular (Potential).				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																		---	---	---	---	capture		Missense_Mutation	SNP	10403543	10403543	9688	5	G	C	C	33	33	MARCH6	C	3	3
TRIO	7204	broad.mit.edu	37	5	14485270	14485270	+	Missense_Mutation	SNP	T	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:14485270T>G	uc003jff.2	+	47	6756	c.6750T>G	c.(6748-6750)ATT>ATG	p.I2250M	TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.I1899M	NM_007118	NP_009049	O75962	TRIO_HUMAN	triple functional domain (PTPRF interacting)	2250	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18	Lung NSC(4;0.000742)																	---	---	---	---	capture		Missense_Mutation	SNP	14485270	14485270	17102	5	T	G	G	64	64	TRIO	G	4	4
HCN1	348980	broad.mit.edu	37	5	45396618	45396618	+	Silent	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45396618A>G	uc003jok.2	-	4	1231	c.1206T>C	c.(1204-1206)TCT>TCC	p.S402S		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	402	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	45396618	45396618	7278	5	A	G	G	3	3	HCN1	G	4	4
ITGA2	3673	broad.mit.edu	37	5	52358644	52358644	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:52358644G>C	uc003joy.2	+	13	1630	c.1487G>C	c.(1486-1488)TGT>TCT	p.C496S	ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.C420S|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA	NM_002203	NP_002194	P17301	ITA2_HUMAN	integrin alpha 2 precursor	496	FG-GAP 5.|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)																---	---	---	---	capture		Missense_Mutation	SNP	52358644	52358644	8179	5	G	C	C	48	48	ITGA2	C	3	3
TMEM161B	153396	broad.mit.edu	37	5	87492090	87492090	+	Missense_Mutation	SNP	C	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:87492090C>G	uc003kjc.2	-	12	1527	c.1402G>C	c.(1402-1404)GCT>CCT	p.A468P	TMEM161B_uc011cty.1_Missense_Mutation_p.A457P|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctx.1_Missense_Mutation_p.A259P	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	468	Helical; (Potential).					integral to membrane				skin(2)	2		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)														---	---	---	---	capture		Missense_Mutation	SNP	87492090	87492090	16611	5	C	G	G	25	25	TMEM161B	G	3	3
WNT8A	7478	broad.mit.edu	37	5	137426719	137426719	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137426719G>C	uc003lcd.1	+	6	1018	c.1013G>C	c.(1012-1014)CGC>CCC	p.R338P	BRD8_uc003lcc.1_Intron|WNT8A_uc011cyj.1_Intron|WNT8A_uc011cyk.1_Missense_Mutation_p.R356P	NM_058244	NP_490645	Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family,	338					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			ovary(1)|lung(1)|breast(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---	capture		Missense_Mutation	SNP	137426719	137426719	17970	5	G	C	C	38	38	WNT8A	C	3	3
PCDHGA3	56112	broad.mit.edu	37	5	140724612	140724612	+	Missense_Mutation	SNP	C	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140724612C>G	uc003ljm.1	+	1	1012	c.1012C>G	c.(1012-1014)CTG>GTG	p.L338V	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.L98V|PCDHGA3_uc011dap.1_Missense_Mutation_p.L338V	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3 isoform 1	338	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	140724612	140724612	11975	5	C	G	G	32	32	PCDHGA3	G	3	3
TCOF1	6949	broad.mit.edu	37	5	149754232	149754232	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:149754232A>T	uc003lry.2	+	9	1244	c.1136A>T	c.(1135-1137)AAG>ATG	p.K379M	TCOF1_uc003lrw.2_Missense_Mutation_p.K379M|TCOF1_uc011dch.1_Missense_Mutation_p.K379M|TCOF1_uc003lrz.2_Missense_Mutation_p.K379M|TCOF1_uc003lrx.2_Missense_Mutation_p.K302M|TCOF1_uc003lsa.2_Missense_Mutation_p.K302M|TCOF1_uc011dci.1_5'Flank	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	379					skeletal system development	nucleolus	protein binding|transporter activity			ovary(2)|large_intestine(1)	3		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)															---	---	---	---	capture		Missense_Mutation	SNP	149754232	149754232	16234	5	A	T	T	3	3	TCOF1	T	4	4
RARS	5917	broad.mit.edu	37	5	167920938	167920938	+	Missense_Mutation	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:167920938A>G	uc003lzx.2	+	4	450	c.409A>G	c.(409-411)ATT>GTT	p.I137V	RARS_uc011deo.1_Intron	NM_002887	NP_002878	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	137				REI -> GEF (in Ref. 1; AAB35627).	arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			ovary(2)|skin(1)	3	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)														---	---	---	---	capture		Missense_Mutation	SNP	167920938	167920938	13518	5	A	G	G	4	4	RARS	G	4	4
HIST1H4C	8364	broad.mit.edu	37	6	26104417	26104417	+	Missense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:26104417C>T	uc003ngi.2	+	1	242	c.242C>T	c.(241-243)ACT>ATT	p.T81I		NM_003542	NP_003533	P62805	H4_HUMAN	histone cluster 1, H4c	81					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	26104417	26104417	7452	6	C	T	T	20	20	HIST1H4C	T	2	2
OR2W1	26692	broad.mit.edu	37	6	29012897	29012897	+	Missense_Mutation	SNP	T	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:29012897T>C	uc003nlw.2	-	1	56	c.56A>G	c.(55-57)AAC>AGC	p.N19S		NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W,	19	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	29012897	29012897	11438	6	T	C	C	60	60	OR2W1	C	4	4
OOEP	441161	broad.mit.edu	37	6	74079068	74079068	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:74079068G>T	uc003pgu.3	-	2	231	c.231C>A	c.(229-231)AGC>AGA	p.S77R	OOEP_uc003pgv.3_Missense_Mutation_p.S22R	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	oocyte expressed protein homolog	77	KH; atypical.					cytoplasm					0																		---	---	---	---	capture		Missense_Mutation	SNP	74079068	74079068	11276	6	G	T	T	42	42	OOEP	T	2	2
KIAA0776	23376	broad.mit.edu	37	6	96986576	96986576	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:96986576A>T	uc003por.2	+	10	1096	c.1048A>T	c.(1048-1050)AGC>TGC	p.S350C	KIAA0776_uc010kck.2_RNA	NM_015323	NP_056138	O94874	UFL1_HUMAN	hypothetical protein LOC23376	350					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)														---	---	---	---	capture		Missense_Mutation	SNP	96986576	96986576	8500	6	A	T	T	7	7	KIAA0776	T	4	4
ASCC3	10973	broad.mit.edu	37	6	101075504	101075504	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:101075504C>A	uc003pqk.2	-	29	4933	c.4604G>T	c.(4603-4605)TGT>TTT	p.C1535F		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit	1535					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)														---	---	---	---	capture		Missense_Mutation	SNP	101075504	101075504	1051	6	C	A	A	17	17	ASCC3	A	2	2
SOBP	55084	broad.mit.edu	37	6	107824935	107824935	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107824935G>C	uc003prx.2	+	2	675	c.171G>C	c.(169-171)GAG>GAC	p.E57D	SOBP_uc003prw.1_Missense_Mutation_p.E57D	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog	57							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)														---	---	---	---	capture		Missense_Mutation	SNP	107824935	107824935	15412	6	G	C	C	35	35	SOBP	C	3	3
SMPD2	6610	broad.mit.edu	37	6	109763467	109763467	+	Missense_Mutation	SNP	C	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109763467C>G	uc003pti.2	+	5	767	c.373C>G	c.(373-375)CTA>GTA	p.L125V	PPIL6_uc003ptg.3_5'Flank|PPIL6_uc010kdo.2_5'Flank|PPIL6_uc010kdp.2_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral	125					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity				0		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)														---	---	---	---	capture		Missense_Mutation	SNP	109763467	109763467	15305	6	C	G	G	32	32	SMPD2	G	3	3
MED23	9439	broad.mit.edu	37	6	131910675	131910675	+	Missense_Mutation	SNP	T	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:131910675T>C	uc003qcs.1	-	28	4043	c.3869A>G	c.(3868-3870)TAC>TGC	p.Y1290C	MED23_uc003qcq.2_Missense_Mutation_p.Y1296C|MED23_uc003qcr.1_Missense_Mutation_p.Y145C	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	mediator complex subunit 23 isoform a	1290					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)														---	---	---	---	capture		Missense_Mutation	SNP	131910675	131910675	9830	6	T	C	C	57	57	MED23	C	4	4
EYA4	2070	broad.mit.edu	37	6	133783546	133783546	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:133783546G>T	uc003qec.3	+	8	969	c.511G>T	c.(511-513)GGG>TGG	p.G171W	EYA4_uc011ecq.1_Missense_Mutation_p.G117W|EYA4_uc011ecr.1_Missense_Mutation_p.G117W|EYA4_uc003qed.3_Missense_Mutation_p.G171W|EYA4_uc003qee.3_Missense_Mutation_p.G148W|EYA4_uc011ecs.1_Missense_Mutation_p.G171W|uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	eyes absent 4 isoform a	171					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			large_intestine(2)	2	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)														---	---	---	---	capture		Missense_Mutation	SNP	133783546	133783546	5525	6	G	T	T	43	43	EYA4	T	2	2
MYB	4602	broad.mit.edu	37	6	135507133	135507133	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:135507133G>C	uc003qfc.2	+	2	315	c.116G>C	c.(115-117)GGG>GCG	p.G39A	MYB_uc003qfh.2_Missense_Mutation_p.G39A|MYB_uc003qfi.2_Missense_Mutation_p.G39A|MYB_uc010kgi.2_Missense_Mutation_p.G39A|MYB_uc003qfq.2_Missense_Mutation_p.G39A|MYB_uc010kgj.2_Missense_Mutation_p.G39A|MYB_uc003qfo.2_Missense_Mutation_p.G39A|MYB_uc003qfu.2_Missense_Mutation_p.G39A|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_5'UTR|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_5'UTR|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA|MYB_uc003qfb.1_Missense_Mutation_p.G39A|MYB_uc003qgd.1_5'Flank	NM_005375	NP_005366	P10242	MYB_HUMAN	v-myb myeloblastosis viral oncogene homolog	39	HTH myb-type 1.				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			lung(1)	1	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)				T	NFIB	adenoid cystic carcinoma								---	---	---	---	capture		Missense_Mutation	SNP	135507133	135507133	10402	6	G	C	C	43	43	MYB	C	3	3
BCLAF1	9774	broad.mit.edu	37	6	136597502	136597502	+	Silent	SNP	T	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136597502T>C	uc003qgx.1	-	5	1414	c.1161A>G	c.(1159-1161)AAA>AAG	p.K387K	BCLAF1_uc003qgw.1_Intron|BCLAF1_uc003qgy.1_Silent_p.K385K|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Silent_p.K385K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1 isoform	387					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			ovary(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)														---	---	---	---	capture		Silent	SNP	136597502	136597502	1404	6	T	C	C	56	56	BCLAF1	C	4	4
SYNE1	23345	broad.mit.edu	37	6	152673301	152673301	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152673301C>A	uc010kiw.2	-	70	12043	c.11441G>T	c.(11440-11442)GGT>GTT	p.G3814V	SYNE1_uc003qot.3_Missense_Mutation_p.G3799V|SYNE1_uc003qou.3_Missense_Mutation_p.G3814V|SYNE1_uc010kja.1_Missense_Mutation_p.G519V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3814	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)			---	---	---	---	capture		Missense_Mutation	SNP	152673301	152673301	15966	6	C	A	A	18	18	SYNE1	A	2	2
SYNE1	23345	broad.mit.edu	37	6	152762406	152762406	+	Splice_Site	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152762406C>A	uc010kiw.2	-	32	4611	c.4009_splice	c.e32-1	p.V1337_splice	SYNE1_uc003qot.3_Splice_Site_p.V1344_splice|SYNE1_uc003qou.3_Splice_Site_p.V1337_splice|SYNE1_uc010kjb.1_Splice_Site_p.V1320_splice|SYNE1_uc003qow.2_Splice_Site_p.V632_splice|SYNE1_uc003qox.1_Splice_Site_p.V853_splice	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)			---	---	---	---	capture		Splice_Site	SNP	152762406	152762406	15966	6	C	A	A	24	24	SYNE1	A	5	2
NOX3	50508	broad.mit.edu	37	6	155761239	155761239	+	Silent	SNP	T	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155761239T>G	uc003qqm.2	-	6	622	c.519A>C	c.(517-519)GCA>GCC	p.A173A		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	173	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)														---	---	---	---	capture		Silent	SNP	155761239	155761239	10961	6	T	G	G	55	55	NOX3	G	4	4
ARID1B	57492	broad.mit.edu	37	6	157521979	157521979	+	Silent	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157521979G>A	uc003qqn.2	+	18	4349	c.4197G>A	c.(4195-4197)AGG>AGA	p.R1399R	ARID1B_uc003qqo.2_Silent_p.R1359R|ARID1B_uc003qqp.2_Silent_p.R1346R	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1404					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)														---	---	---	---	capture		Silent	SNP	157521979	157521979	929	6	G	A	A	42	42	ARID1B	A	2	2
VPS41	27072	broad.mit.edu	37	7	38785213	38785213	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:38785213C>A	uc003tgy.2	-	23	1953	c.1927G>T	c.(1927-1929)GCT>TCT	p.A643S	VPS41_uc003tgz.2_Missense_Mutation_p.A618S|VPS41_uc010kxn.2_Missense_Mutation_p.A554S|VPS41_uc003tgx.2_RNA	NM_014396	NP_055211	P49754	VPS41_HUMAN	vacuolar protein sorting 41 isoform 1	643	Clathrin.				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																		---	---	---	---	capture		Missense_Mutation	SNP	38785213	38785213	17777	7	C	A	A	26	26	VPS41	A	2	2
NPC1L1	29881	broad.mit.edu	37	7	44571705	44571705	+	Silent	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:44571705G>A	uc003tlb.2	-	9	2577	c.2521C>T	c.(2521-2523)CTG>TTG	p.L841L	NPC1L1_uc003tlc.2_Silent_p.L841L|NPC1L1_uc011kbw.1_Silent_p.L841L	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Niemann-Pick C1-like protein 1 isoform 1	841	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)													---	---	---	---	capture		Silent	SNP	44571705	44571705	10975	7	G	A	A	34	34	NPC1L1	A	2	2
UPP1	7378	broad.mit.edu	37	7	48147045	48147045	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:48147045G>T	uc003toj.2	+	9	1263	c.734G>T	c.(733-735)CGC>CTC	p.R245L	UPP1_uc003tok.2_Missense_Mutation_p.R245L|UPP1_uc003tol.2_Missense_Mutation_p.R245L|UPP1_uc011kch.1_Missense_Mutation_p.R38L|UPP1_uc003ton.2_Missense_Mutation_p.R108L|UPP1_uc003too.2_Missense_Mutation_p.R108L	NM_181597	NP_853628	Q16831	UPP1_HUMAN	uridine phosphorylase 1	245					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	48147045	48147045	17573	7	G	T	T	38	38	UPP1	T	1	1
PPP1R9A	55607	broad.mit.edu	37	7	94540121	94540121	+	Silent	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:94540121G>T	uc003unp.2	+	2	978	c.696G>T	c.(694-696)GGG>GGT	p.G232G	PPP1R9A_uc010lfj.2_Silent_p.G232G|PPP1R9A_uc011kif.1_Silent_p.G232G|PPP1R9A_uc003unq.2_Silent_p.G232G|PPP1R9A_uc011kig.1_Silent_p.G232G	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory (inhibitor)	232						cell junction|synapse|synaptosome	actin binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)												HNSCC(28;0.073)			---	---	---	---	capture		Silent	SNP	94540121	94540121	12814	7	G	T	T	42	42	PPP1R9A	T	2	2
TRRAP	8295	broad.mit.edu	37	7	98524818	98524818	+	Missense_Mutation	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98524818A>G	uc003upp.2	+	23	3213	c.3004A>G	c.(3004-3006)ATC>GTC	p.I1002V	TRRAP_uc011kis.1_Missense_Mutation_p.I1002V|TRRAP_uc003upr.2_Missense_Mutation_p.I694V	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1002					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)															---	---	---	---	capture		Missense_Mutation	SNP	98524818	98524818	17152	7	A	G	G	16	16	TRRAP	G	4	4
PIK3CG	5294	broad.mit.edu	37	7	106508783	106508783	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:106508783G>T	uc003vdv.3	+	2	862	c.777G>T	c.(775-777)ATG>ATT	p.M259I	PIK3CG_uc003vdu.2_Missense_Mutation_p.M259I|PIK3CG_uc003vdw.2_Missense_Mutation_p.M259I	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	259					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38																		---	---	---	---	capture		Missense_Mutation	SNP	106508783	106508783	12340	7	G	T	T	47	47	PIK3CG	T	2	2
ST7	7982	broad.mit.edu	37	7	116759660	116759660	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:116759660G>A	uc003vin.2	+	3	494	c.280G>A	c.(280-282)GAA>AAA	p.E94K	ST7_uc011knl.1_Missense_Mutation_p.E94K|ST7_uc003vio.2_Missense_Mutation_p.E94K|ST7_uc003viq.2_Missense_Mutation_p.E48K|ST7_uc011knm.1_Missense_Mutation_p.E51K|ST7_uc003vir.2_Missense_Mutation_p.E42K|ST7OT2_uc003viu.2_Intron|ST7_uc011knn.1_Missense_Mutation_p.E42K|ST7OT2_uc003viw.2_Intron|ST7_uc003vix.1_5'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	94						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)														---	---	---	---	capture		Missense_Mutation	SNP	116759660	116759660	15747	7	G	A	A	45	45	ST7	A	2	2
GRM8	2918	broad.mit.edu	37	7	126410117	126410117	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:126410117G>T	uc003vlr.2	-	6	1470	c.1159C>A	c.(1159-1161)CTG>ATG	p.L387M	GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.L387M|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Missense_Mutation_p.L108M	NM_000845	NP_000836	O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8 isoform a	387	Extracellular (Potential).				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23		Prostate(267;0.186)			L-Glutamic Acid(DB00142)										HNSCC(24;0.065)			---	---	---	---	capture		Missense_Mutation	SNP	126410117	126410117	7082	7	G	T	T	34	34	GRM8	T	2	2
TAS2R41	259287	broad.mit.edu	37	7	143175315	143175315	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143175315C>A	uc003wdc.1	+	1	350	c.350C>A	c.(349-351)TCC>TAC	p.S117Y	uc003wda.2_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	117	Cytoplasmic (Potential).				sensory perception of taste	integral to membrane	G-protein coupled receptor activity			pancreas(1)|skin(1)	2	Melanoma(164;0.15)																	---	---	---	---	capture		Missense_Mutation	SNP	143175315	143175315	16101	7	C	A	A	30	30	TAS2R41	A	2	2
NOBOX	135935	broad.mit.edu	37	7	144097350	144097350	+	Silent	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:144097350A>G	uc011kue.1	-	5	900	c.900T>C	c.(898-900)GAT>GAC	p.D300D		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	300	Homeobox.				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			ovary(1)	1	Melanoma(164;0.14)																	---	---	---	---	capture		Silent	SNP	144097350	144097350	10915	7	A	G	G	16	16	NOBOX	G	4	4
GIMAP5	55340	broad.mit.edu	37	7	150439822	150439822	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150439822C>A	uc003whr.1	+	3	947	c.595C>A	c.(595-597)CAG>AAG	p.Q199K	GIMAP5_uc010lpu.2_Missense_Mutation_p.Q57K	NM_018384	NP_060854	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	199	Cytoplasmic (Potential).					integral to membrane|mitochondrial outer membrane	GTP binding			ovary(1)|central_nervous_system(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	150439822	150439822	6650	7	C	A	A	25	25	GIMAP5	A	2	2
MSR1	4481	broad.mit.edu	37	8	15967718	15967718	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:15967718G>T	uc003wwz.2	-	10	1430	c.1232C>A	c.(1231-1233)CCA>CAA	p.P411Q	MSR1_uc010lsu.2_Missense_Mutation_p.P429Q|MSR1_uc003wxa.2_Missense_Mutation_p.P348Q	NM_138715	NP_619729	P21757	MSRE_HUMAN	macrophage scavenger receptor 1 isoform type 1	411	SRCR.|Extracellular (Potential).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			ovary(1)	1				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)														---	---	---	---	capture		Missense_Mutation	SNP	15967718	15967718	10279	8	G	T	T	47	47	MSR1	T	2	2
UNC5D	137970	broad.mit.edu	37	8	35647908	35647908	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:35647908C>A	uc003xjr.1	+	17	3017	c.2689C>A	c.(2689-2691)CCA>ACA	p.P897T	UNC5D_uc003xjs.1_Missense_Mutation_p.P892T|UNC5D_uc003xju.1_Missense_Mutation_p.P473T	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D precursor	897	Death.|Cytoplasmic (Potential).				apoptosis|axon guidance	integral to membrane	receptor activity			upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)														---	---	---	---	capture		Missense_Mutation	SNP	35647908	35647908	17553	8	C	A	A	22	22	UNC5D	A	2	2
PRKDC	5591	broad.mit.edu	37	8	48746885	48746885	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:48746885G>A	uc003xqi.2	-	60	8081	c.8024C>T	c.(8023-8025)TCT>TTT	p.S2675F	PRKDC_uc003xqj.2_Missense_Mutation_p.S2675F|PRKDC_uc011ldh.1_Intron	NM_006904	NP_008835	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic	2675	KIP-binding.				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					---	---	---	---	capture		Missense_Mutation	SNP	48746885	48746885	12964	8	G	A	A	33	33	PRKDC	A	2	2
CYP7B1	9420	broad.mit.edu	37	8	65517287	65517287	+	Silent	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:65517287G>T	uc003xvj.2	-	5	1389	c.1185C>A	c.(1183-1185)ATC>ATA	p.I395I		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	395					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)																---	---	---	---	capture		Silent	SNP	65517287	65517287	4362	8	G	T	T	33	33	CYP7B1	T	2	2
CYP7B1	9420	broad.mit.edu	37	8	65528652	65528652	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:65528652G>A	uc003xvj.2	-	3	650	c.446C>T	c.(445-447)TCT>TTT	p.S149F		NM_004820	NP_004811	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B,	149					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			ovary(3)	3		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)																---	---	---	---	capture		Missense_Mutation	SNP	65528652	65528652	4362	8	G	A	A	33	33	CYP7B1	A	2	2
ZFHX4	79776	broad.mit.edu	37	8	77617884	77617884	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77617884G>A	uc003yav.2	+	2	1948	c.1561G>A	c.(1561-1563)GGT>AGT	p.G521S	ZFHX4_uc003yat.1_Missense_Mutation_p.G521S|ZFHX4_uc003yau.1_Missense_Mutation_p.G521S|ZFHX4_uc003yaw.1_Missense_Mutation_p.G521S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	521						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(8)|large_intestine(4)|breast(2)|lung(1)	15			BRCA - Breast invasive adenocarcinoma(89;0.0895)												HNSCC(33;0.089)			---	---	---	---	capture		Missense_Mutation	SNP	77617884	77617884	18223	8	G	A	A	43	43	ZFHX4	A	2	2
PSKH2	85481	broad.mit.edu	37	8	87081732	87081732	+	Silent	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87081732G>T	uc011lfy.1	-	1	120	c.120C>A	c.(118-120)GCC>GCA	p.A40A		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	40							ATP binding|protein serine/threonine kinase activity			stomach(2)|lung(2)|ovary(1)	5			STAD - Stomach adenocarcinoma(118;0.129)															---	---	---	---	capture		Silent	SNP	87081732	87081732	13118	8	G	T	T	43	43	PSKH2	T	2	2
POP1	10940	broad.mit.edu	37	8	99148776	99148776	+	Missense_Mutation	SNP	G	T	T	rs150874165		TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:99148776G>T	uc003yij.3	+	8	1178	c.1078G>T	c.(1078-1080)GCT>TCT	p.A360S	POP1_uc011lgv.1_Missense_Mutation_p.A360S|POP1_uc003yik.2_Missense_Mutation_p.A360S	NM_001145860	NP_001139332	Q99575	POP1_HUMAN	processing of precursor 1	360					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)															---	---	---	---	capture		Missense_Mutation	SNP	99148776	99148776	12680	8	G	T	T	38	38	POP1	T	1	1
PKHD1L1	93035	broad.mit.edu	37	8	110476998	110476998	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:110476998C>A	uc003yne.2	+	49	8041	c.7937C>A	c.(7936-7938)GCA>GAA	p.A2646E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	2646	Extracellular (Potential).				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)			---	---	---	---	capture		Missense_Mutation	SNP	110476998	110476998	12397	8	C	A	A	25	25	PKHD1L1	A	2	2
TRPS1	7227	broad.mit.edu	37	8	116617106	116617106	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:116617106C>A	uc003ynz.2	-	3	1510	c.1051G>T	c.(1051-1053)GAA>TAA	p.E351*	TRPS1_uc011lhy.1_Nonsense_Mutation_p.E355*|TRPS1_uc003yny.2_Nonsense_Mutation_p.E364*|TRPS1_uc010mcy.2_Nonsense_Mutation_p.E351*	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	zinc finger transcription factor TRPS1	351	C2H2-type 2; atypical.				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				---	---	---	---	capture		Nonsense_Mutation	SNP	116617106	116617106	17144	8	C	A	A	32	32	TRPS1	A	5	2
C8orf85	441376	broad.mit.edu	37	8	117950629	117950629	+	Silent	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:117950629C>T	uc003yof.2	+	1	166	c.147C>T	c.(145-147)GCC>GCT	p.A49A		NM_001025357	NP_001020528	Q4LEZ3	AARD_HUMAN	alanine and arginine-rich domain-containing	49											0																		---	---	---	---	capture		Silent	SNP	117950629	117950629	2554	8	C	T	T	22	22	C8orf85	T	2	2
ATAD2	29028	broad.mit.edu	37	8	124349885	124349885	+	Nonsense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:124349885T>A	uc003yqh.3	-	21	3139	c.3031A>T	c.(3031-3033)AAG>TAG	p.K1011*	ATAD2_uc011lii.1_Nonsense_Mutation_p.K802*|ATAD2_uc003yqi.3_RNA	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1011	Bromo.				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)															---	---	---	---	capture		Nonsense_Mutation	SNP	124349885	124349885	1090	8	T	A	A	61	61	ATAD2	A	5	4
LINGO2	158038	broad.mit.edu	37	9	27950441	27950441	+	Missense_Mutation	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:27950441A>G	uc003zqu.1	-	2	423	c.229T>C	c.(229-231)TTC>CTC	p.F77L	LINGO2_uc010mjf.1_Missense_Mutation_p.F77L|LINGO2_uc003zqv.1_Missense_Mutation_p.F77L	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	77	LRR 1.|Extracellular (Potential).					integral to membrane				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)														---	---	---	---	capture		Missense_Mutation	SNP	27950441	27950441	9142	9	A	G	G	4	4	LINGO2	G	4	4
DNAI1	27019	broad.mit.edu	37	9	34514727	34514727	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34514727C>A	uc003zum.2	+	18	2001	c.1808C>A	c.(1807-1809)ACA>AAA	p.T603K		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	603	WD 4.				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				---	---	---	---	capture		Missense_Mutation	SNP	34514727	34514727	4792	9	C	A	A	17	17	DNAI1	A	2	2
IL11RA	3590	broad.mit.edu	37	9	34658544	34658544	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34658544G>T	uc003zvi.2	+	8	2030	c.674G>T	c.(673-675)CGG>CTG	p.R225L	IL11RA_uc011loq.1_Missense_Mutation_p.R225L|IL11RA_uc003zvj.2_Missense_Mutation_p.R225L|IL11RA_uc003zvk.2_Missense_Mutation_p.R225L|IL11RA_uc010mke.2_Missense_Mutation_p.R107L|IL11RA_uc003zvl.2_RNA	NM_004512	NP_004503	Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha isoform 1	225	Extracellular (Potential).|Fibronectin type-III 2.					integral to plasma membrane	cytokine receptor activity			skin(1)	1	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)													---	---	---	---	capture		Missense_Mutation	SNP	34658544	34658544	7924	9	G	T	T	39	39	IL11RA	T	1	1
C9orf79	286234	broad.mit.edu	37	9	90502329	90502329	+	Missense_Mutation	SNP	T	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:90502329T>C	uc004app.3	+	4	2962	c.2927T>C	c.(2926-2928)GTC>GCC	p.V976A		NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	chromosome 9 open reading frame 79	976						integral to membrane				ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	90502329	90502329	2613	9	T	C	C	58	58	C9orf79	C	4	4
ROR2	4920	broad.mit.edu	37	9	94486343	94486343	+	Missense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:94486343C>T	uc004arj.1	-	9	2632	c.2433G>A	c.(2431-2433)ATG>ATA	p.M811I	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	811	Cytoplasmic (Potential).|Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1)	20																		---	---	---	---	capture		Missense_Mutation	SNP	94486343	94486343	14006	9	C	T	T	21	21	ROR2	T	2	2
KIAA1529	57653	broad.mit.edu	37	9	100124029	100124029	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:100124029G>A	uc011lut.1	+	39	4827	c.4054G>A	c.(4054-4056)GAG>AAG	p.E1352K	KIAA1529_uc004axe.1_Missense_Mutation_p.E1184K|KIAA1529_uc004axg.1_Missense_Mutation_p.E1213K|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.E369K	NM_020893	NP_065944			hypothetical protein LOC57653											ovary(4)|large_intestine(2)|skin(1)	7		Acute lymphoblastic leukemia(62;0.154)																---	---	---	---	capture		Missense_Mutation	SNP	100124029	100124029	8549	9	G	A	A	41	41	KIAA1529	A	2	2
LAMC3	10319	broad.mit.edu	37	9	133948095	133948095	+	Missense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:133948095T>A	uc004caa.1	+	19	3388	c.3290T>A	c.(3289-3291)CTG>CAG	p.L1097Q		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3 precursor	1097	Domain II and I.|Potential.				cell adhesion	basement membrane|membrane	structural molecule activity			ovary(2)|pancreas(1)	3	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)														---	---	---	---	capture		Missense_Mutation	SNP	133948095	133948095	8939	9	T	A	A	55	55	LAMC3	A	4	4
OLFM1	10439	broad.mit.edu	37	9	137982073	137982073	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:137982073G>T	uc010nar.2	+	2	499	c.183G>T	c.(181-183)CAG>CAT	p.Q61H	OLFM1_uc004cfl.3_Missense_Mutation_p.Q43H|OLFM1_uc004cfk.3_Missense_Mutation_p.Q43H|OLFM1_uc004cfm.3_Missense_Mutation_p.Q61H	NM_014279	NP_055094	Q99784	NOE1_HUMAN	olfactomedin related ER localized protein	61					nervous system development	endoplasmic reticulum lumen	protein binding			ovary(1)|skin(1)	2		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)														---	---	---	---	capture		Missense_Mutation	SNP	137982073	137982073	11257	9	G	T	T	35	35	OLFM1	T	2	2
ARRDC1	92714	broad.mit.edu	37	9	140509312	140509312	+	Missense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:140509312C>T	uc004cns.2	+	7	1171	c.1097C>T	c.(1096-1098)GCC>GTC	p.A366V	ARRDC1_uc004cnt.2_Missense_Mutation_p.A241V|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Missense_Mutation_p.A346V|ARRDC1_uc004cnw.2_Missense_Mutation_p.A241V|ARRDC1_uc004cnp.1_Missense_Mutation_p.A366V|ARRDC1_uc004cnq.1_Missense_Mutation_p.A348V|ARRDC1_uc011mfb.1_Missense_Mutation_p.A241V|ARRDC1_uc004cnx.1_Missense_Mutation_p.A241V|ARRDC1_uc004cny.2_RNA	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	366	Pro-rich.										0	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)														---	---	---	---	capture		Missense_Mutation	SNP	140509312	140509312	1000	9	C	T	T	26	26	ARRDC1	T	2	2
GLRA2	2742	broad.mit.edu	37	X	14599312	14599312	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:14599312G>T	uc010nep.2	+	5	610	c.278G>T	c.(277-279)CGA>CTA	p.R93L	GLRA2_uc010neq.2_Missense_Mutation_p.R93L|GLRA2_uc004cwe.3_Missense_Mutation_p.R93L|GLRA2_uc011mio.1_Missense_Mutation_p.R4L|GLRA2_uc011mip.1_Missense_Mutation_p.R71L	NM_001118885	NP_001112357	P23416	GLRA2_HUMAN	glycine receptor, alpha 2 isoform A	93	Extracellular (Probable).				neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			ovary(1)|lung(1)	2	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)													---	---	---	---	capture		Missense_Mutation	SNP	14599312	14599312	6723	23	G	T	T	37	37	GLRA2	T	1	1
FANCB	2187	broad.mit.edu	37	X	14861877	14861877	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:14861877C>A	uc004cwg.1	-	10	2660	c.2392G>T	c.(2392-2394)GTC>TTC	p.V798F	FANCB_uc004cwh.1_Missense_Mutation_p.V798F	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN	Fanconi anemia complementation group B	798					DNA repair	nucleoplasm				lung(1)	1	Hepatocellular(33;0.183)												Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				---	---	---	---	capture		Missense_Mutation	SNP	14861877	14861877	5899	23	C	A	A	19	19	FANCB	A	1	1
IL1RAPL1	11141	broad.mit.edu	37	X	29972768	29972768	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:29972768A>T	uc004dby.2	+	10	1839	c.1331A>T	c.(1330-1332)TAT>TTT	p.Y444F		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	444	Cytoplasmic (Potential).|TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			ovary(3)|lung(1)|pancreas(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	29972768	29972768	7962	23	A	T	T	16	16	IL1RAPL1	T	4	4
MAGEB1	4112	broad.mit.edu	37	X	30269105	30269105	+	Silent	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:30269105G>A	uc004dcc.2	+	4	815	c.495G>A	c.(493-495)TTG>TTA	p.L165L	MAGEB1_uc004dcd.2_Silent_p.L165L|MAGEB1_uc004dce.2_Silent_p.L165L	NM_002363	NP_002354	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	165	MAGE.										0																		---	---	---	---	capture		Silent	SNP	30269105	30269105	9553	23	G	A	A	45	45	MAGEB1	A	2	2
FAM47A	158724	broad.mit.edu	37	X	34149883	34149883	+	Silent	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34149883C>T	uc004ddg.2	-	1	546	c.513G>A	c.(511-513)AAG>AAA	p.K171K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	171										ovary(4)|central_nervous_system(1)	5																		---	---	---	---	capture		Silent	SNP	34149883	34149883	5790	23	C	T	T	32	32	FAM47A	T	2	2
FAM47B	170062	broad.mit.edu	37	X	34962130	34962130	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34962130G>T	uc004ddi.1	+	1	1200	c.1182G>T	c.(1180-1182)ATG>ATT	p.M394I		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	hypothetical protein LOC170062	394										ovary(3)|breast(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	34962130	34962130	5791	23	G	T	T	46	46	FAM47B	T	2	2
CXorf59	286464	broad.mit.edu	37	X	36117965	36117965	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:36117965C>A	uc004ddk.1	+	7	1007	c.821C>A	c.(820-822)GCA>GAA	p.A274E		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	hypothetical protein LOC286464	274						integral to membrane				central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	36117965	36117965	4279	23	C	A	A	25	25	CXorf59	A	2	2
FAM47C	442444	broad.mit.edu	37	X	37027930	37027930	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37027930G>T	uc004ddl.1	+	1	1461	c.1447G>T	c.(1447-1449)GTA>TTA	p.V483L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	483										ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	37027930	37027930	5792	23	G	T	T	40	40	FAM47C	T	1	1
FAM47C	442444	broad.mit.edu	37	X	37028017	37028017	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37028017C>A	uc004ddl.1	+	1	1548	c.1534C>A	c.(1534-1536)CCA>ACA	p.P512T		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	512										ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	37028017	37028017	5792	23	C	A	A	22	22	FAM47C	A	2	2
FAM47C	442444	broad.mit.edu	37	X	37028891	37028891	+	Missense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:37028891C>T	uc004ddl.1	+	1	2422	c.2408C>T	c.(2407-2409)CCT>CTT	p.P803L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	hypothetical protein LOC442444	803										ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	37028891	37028891	5792	23	C	T	T	24	24	FAM47C	T	2	2
GPR34	2857	broad.mit.edu	37	X	41555559	41555559	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:41555559G>T	uc004dfp.3	+	3	957	c.673G>T	c.(673-675)GTA>TTA	p.V225L	CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR34_uc004dfq.3_Missense_Mutation_p.V225L|GPR34_uc010nhg.2_Missense_Mutation_p.V225L|GPR34_uc004dfr.3_Missense_Mutation_p.V225L	NM_001097579	NP_001091048	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	225	Helical; Name=5; (Potential).					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	41555559	41555559	6964	23	G	T	T	44	44	GPR34	T	2	2
ZNF41	7592	broad.mit.edu	37	X	47308216	47308216	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:47308216G>T	uc004dhs.3	-	4	1146	c.1079C>A	c.(1078-1080)CCA>CAA	p.P360Q	ZNF41_uc004dhu.3_Missense_Mutation_p.P352Q|ZNF41_uc004dht.3_Missense_Mutation_p.P232Q|ZNF41_uc004dhv.3_Missense_Mutation_p.P328Q|ZNF41_uc004dhw.3_Missense_Mutation_p.P320Q|ZNF41_uc004dhy.3_Missense_Mutation_p.P318Q|ZNF41_uc004dhx.3_Missense_Mutation_p.P318Q|ZNF41_uc011mlm.1_Missense_Mutation_p.P232Q	NM_153380	NP_700359	P51814	ZNF41_HUMAN	zinc finger protein 41	360	C2H2-type 2; degenerate.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)	3		all_lung(315;0.000129)																---	---	---	---	capture		Missense_Mutation	SNP	47308216	47308216	18482	23	G	T	T	47	47	ZNF41	T	2	2
SSX1	6756	broad.mit.edu	37	X	48116705	48116705	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48116705G>T	uc004djb.1	+	2	120	c.29G>T	c.(28-30)AGA>ATA	p.R10I		NM_005635	NP_005626	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)	soft_tissue(1169)	1169																		---	---	---	---	capture		Missense_Mutation	SNP	48116705	48116705	15719	23	G	T	T	33	33	SSX1	T	2	2
SSX3	10214	broad.mit.edu	37	X	48207011	48207011	+	Silent	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48207011G>T	uc004djd.1	-	7	589	c.495C>A	c.(493-495)ACC>ACA	p.T165T		NM_021014	NP_066294	Q99909	SSX3_HUMAN	synovial sarcoma, X breakpoint 3 isoform a	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding				0																		---	---	---	---	capture		Silent	SNP	48207011	48207011	15723	23	G	T	T	43	43	SSX3	T	2	2
PRAF2	11230	broad.mit.edu	37	X	48931479	48931479	+	Silent	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48931479G>C	uc004dmi.2	-	1	184	c.168C>G	c.(166-168)CTC>CTG	p.L56L	PRAF2_uc004dmh.2_5'Flank|PRAF2_uc011mmt.1_Intron	NM_007213	NP_009144	O60831	PRAF2_HUMAN	PRA1 domain family, member 2	56	Helical; (Potential).				L-glutamate transport|protein transport	endosome membrane|integral to membrane					0																		---	---	---	---	capture		Silent	SNP	48931479	48931479	12858	23	G	C	C	37	37	PRAF2	C	3	3
PRICKLE3	4007	broad.mit.edu	37	X	49034343	49034343	+	Silent	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49034343G>A	uc004dmy.1	-	7	980	c.954C>T	c.(952-954)ATC>ATT	p.I318I	PRICKLE3_uc011mmv.1_Silent_p.I250I|PRICKLE3_uc011mmw.1_Silent_p.I237I|PRICKLE3_uc011mmx.1_Silent_p.I280I|PRICKLE3_uc011mmy.1_Silent_p.I305I	NM_006150	NP_006141	O43900	PRIC3_HUMAN	LIM domain only 6	318	LIM zinc-binding 3.						protein binding|zinc ion binding			breast(1)	1																		---	---	---	---	capture		Silent	SNP	49034343	49034343	12931	23	G	A	A	37	37	PRICKLE3	A	1	1
CACNA1F	778	broad.mit.edu	37	X	49086835	49086835	+	Splice_Site	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:49086835C>A	uc004dnb.2	-	6	727	c.665_splice	c.e6-1	p.S222_splice	CACNA1F_uc010nip.2_Splice_Site_p.S222_splice	NM_005183	NP_005174			calcium channel, voltage-dependent, L type,						axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			breast(3)|ovary(1)|kidney(1)|skin(1)	6					Verapamil(DB00661)													---	---	---	---	capture		Splice_Site	SNP	49086835	49086835	2659	23	C	A	A	24	24	CACNA1F	A	5	2
CCNB3	85417	broad.mit.edu	37	X	50051880	50051880	+	Silent	SNP	A	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:50051880A>C	uc004dox.3	+	6	1009	c.711A>C	c.(709-711)GCA>GCC	p.A237A	CCNB3_uc004doy.2_Silent_p.A237A|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	cyclin B3 isoform 3	237					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9	Ovarian(276;0.236)																	---	---	---	---	capture		Silent	SNP	50051880	50051880	3041	23	A	C	C	5	5	CCNB3	C	4	4
HUWE1	10075	broad.mit.edu	37	X	53574675	53574675	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:53574675G>T	uc004dsp.2	-	68	10997	c.10595C>A	c.(10594-10596)ACC>AAC	p.T3532N	HUWE1_uc004dsn.2_Missense_Mutation_p.T2340N|HUWE1_uc004dsq.1_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1	3532	Thr-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			ovary(8)|large_intestine(4)|breast(4)|kidney(1)	17																		---	---	---	---	capture		Missense_Mutation	SNP	53574675	53574675	7761	23	G	T	T	44	44	HUWE1	T	2	2
USP51	158880	broad.mit.edu	37	X	55513251	55513251	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:55513251G>T	uc004dun.1	-	2	2201	c.2122C>A	c.(2122-2124)CTA>ATA	p.L708I	USP51_uc011moo.1_Missense_Mutation_p.L412I	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	ubiquitin specific protease 51	708					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			ovary(1)|lung(1)|breast(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	55513251	55513251	17647	23	G	T	T	33	33	USP51	T	2	2
UBQLN2	29978	broad.mit.edu	37	X	56590724	56590724	+	Missense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:56590724A>T	uc004dus.2	+	1	653	c.418A>T	c.(418-420)AGC>TGC	p.S140C	UBQLN2_uc011moq.1_Missense_Mutation_p.S140C	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	140						cytoplasm|nucleus|plasma membrane	binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	56590724	56590724	17455	23	A	T	T	15	15	UBQLN2	T	4	4
FAM123B	139285	broad.mit.edu	37	X	63411898	63411898	+	Silent	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:63411898C>A	uc004dvo.2	-	2	1542	c.1269G>T	c.(1267-1269)CTG>CTT	p.L423L		NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	family with sequence similarity 123B	423					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																		---	---	---	---	capture		Silent	SNP	63411898	63411898	5620	23	C	A	A	21	21	FAM123B	A	2	2
HEPH	9843	broad.mit.edu	37	X	65476119	65476119	+	Missense_Mutation	SNP	C	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:65476119C>G	uc011moz.1	+	17	2912	c.2852C>G	c.(2851-2853)CCA>CGA	p.P951R	HEPH_uc004dwn.2_Missense_Mutation_p.P951R|HEPH_uc004dwo.2_Missense_Mutation_p.P681R|HEPH_uc010nkr.2_Missense_Mutation_p.P759R|HEPH_uc011mpa.1_Missense_Mutation_p.P951R|HEPH_uc010nks.2_Missense_Mutation_p.P240R	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN	hephaestin isoform a	948	Extracellular (Potential).|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			lung(5)|ovary(4)	9																		---	---	---	---	capture		Missense_Mutation	SNP	65476119	65476119	7337	23	C	G	G	21	21	HEPH	G	3	3
FOXO4	4303	broad.mit.edu	37	X	70316676	70316676	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70316676G>T	uc004dys.1	+	1	651	c.298G>T	c.(298-300)GCC>TCC	p.A100S	FOXO4_uc010nkz.2_Missense_Mutation_p.A100S|FOXO4_uc004dyt.1_Intron	NM_005938	NP_005929	P98177	FOXO4_HUMAN	forkhead box O4	100	Fork-head.				cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase 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			central_nervous_system(2)|prostate(1)	3	Renal(35;0.156)																	---	---	---	---	capture		Missense_Mutation	SNP	70316676	70316676	6271	23	G	T	T	46	46	FOXO4	T	2	2
NLGN3	54413	broad.mit.edu	37	X	70387433	70387433	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70387433C>A	uc004dzd.1	+	6	1686	c.1486C>A	c.(1486-1488)CGC>AGC	p.R496S	NLGN3_uc010nlb.1_Missense_Mutation_p.R456S|NLGN3_uc004dzb.2_Missense_Mutation_p.R476S|NLGN3_uc004dzc.2_Missense_Mutation_p.R359S|NLGN3_uc011mps.1_Missense_Mutation_p.R456S|NLGN3_uc004dze.2_Missense_Mutation_p.R294S	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	496	Extracellular (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)																	---	---	---	---	capture		Missense_Mutation	SNP	70387433	70387433	10866	23	C	A	A	23	23	NLGN3	A	1	1
NLGN3	54413	broad.mit.edu	37	X	70389919	70389919	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70389919C>A	uc004dzb.2	+	7	2763	c.2459C>A	c.(2458-2460)CCC>CAC	p.P820H	NLGN3_uc004dzc.2_Missense_Mutation_p.P703H|NLGN3_uc011mps.1_Missense_Mutation_p.P800H|NLGN3_uc004dze.2_Missense_Mutation_p.P638H	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN	neuroligin 3	840	Cytoplasmic (Potential).				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			ovary(1)	1	Renal(35;0.156)																	---	---	---	---	capture		Missense_Mutation	SNP	70389919	70389919	10866	23	C	A	A	22	22	NLGN3	A	2	2
ZMYM3	9203	broad.mit.edu	37	X	70472962	70472962	+	Silent	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70472962A>T	uc004dzh.1	-	2	231	c.144T>A	c.(142-144)CCT>CCA	p.P48P	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Silent_p.P48P|ZMYM3_uc004dzj.1_Silent_p.P48P|ZMYM3_uc011mpu.1_5'Flank|ZMYM3_uc004dzk.3_Silent_p.P48P|ZMYM3_uc004dzl.3_Silent_p.P48P|ZMYM3_uc004dzm.3_Silent_p.P48P	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	zinc finger protein 261	48					multicellular organismal development	nucleus	DNA binding|zinc ion binding			ovary(1)	1	Renal(35;0.156)															OREG0019858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Silent	SNP	70472962	70472962	18292	23	A	T	T	7	7	ZMYM3	T	4	4
TAF1	6872	broad.mit.edu	37	X	70603813	70603813	+	Missense_Mutation	SNP	T	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70603813T>C	uc004dzu.3	+	13	1997	c.1946T>C	c.(1945-1947)ATG>ACG	p.M649T	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.M670T	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	649					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)																---	---	---	---	capture		Missense_Mutation	SNP	70603813	70603813	16034	23	T	C	C	51	51	TAF1	C	4	4
ERCC6L	54821	broad.mit.edu	37	X	71425039	71425039	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:71425039G>C	uc004eaq.1	-	2	3675	c.3578C>G	c.(3577-3579)GCG>GGG	p.A1193G	PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.A1070G	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	excision repair protein ERCC6-like	1193					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			ovary(3)	3	Renal(35;0.156)																	---	---	---	---	capture		Missense_Mutation	SNP	71425039	71425039	5411	23	G	C	C	38	38	ERCC6L	C	3	3
KIAA2022	340533	broad.mit.edu	37	X	73960135	73960135	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:73960135G>T	uc004eby.2	-	3	4874	c.4257C>A	c.(4255-4257)AAC>AAA	p.N1419K		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	hypothetical protein LOC340533	1419					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15																		---	---	---	---	capture		Missense_Mutation	SNP	73960135	73960135	8580	23	G	T	T	40	40	KIAA2022	T	1	1
PGK1	5230	broad.mit.edu	37	X	77373610	77373610	+	Missense_Mutation	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:77373610A>G	uc004ecz.3	+	6	756	c.584A>G	c.(583-585)AAC>AGC	p.N195S	PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_Missense_Mutation_p.N167S	NM_000291	NP_000282	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	195					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	77373610	77373610	12213	23	A	G	G	2	2	PGK1	G	4	4
DIAPH2	1730	broad.mit.edu	37	X	96396771	96396771	+	Silent	SNP	A	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:96396771A>G	uc004efu.3	+	22	3093	c.2697A>G	c.(2695-2697)GAA>GAG	p.E899E	DIAPH2_uc004eft.3_Silent_p.E899E	NM_006729	NP_006720	O60879	DIAP2_HUMAN	diaphanous 2 isoform 156	899	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			ovary(3)|lung(1)	4																		---	---	---	---	capture		Silent	SNP	96396771	96396771	4698	23	A	G	G	2	2	DIAPH2	G	4	4
XKRX	402415	broad.mit.edu	37	X	100169714	100169714	+	Silent	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:100169714G>T	uc004egn.2	-	3	1568	c.963C>A	c.(961-963)GGC>GGA	p.G321G	XKRX_uc011mre.1_Silent_p.G117G	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related,	321	Helical; (Potential).					integral to membrane|plasma membrane				breast(1)	1																		---	---	---	---	capture		Silent	SNP	100169714	100169714	18020	23	G	T	T	46	46	XKRX	T	2	2
GPRASP1	9737	broad.mit.edu	37	X	101909873	101909873	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:101909873G>A	uc004ejj.3	+	5	1833	c.1032G>A	c.(1030-1032)ATG>ATA	p.M344I	GPRASP1_uc004eji.3_Missense_Mutation_p.M344I|GPRASP1_uc010nod.2_Missense_Mutation_p.M344I	NM_014710	NP_055525	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting	344						cytoplasm	protein binding			ovary(1)|lung(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	101909873	101909873	6998	23	G	A	A	46	46	GPRASP1	A	2	2
IRS4	8471	broad.mit.edu	37	X	107978980	107978980	+	Missense_Mutation	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:107978980G>A	uc004eoc.2	-	1	628	c.595C>T	c.(595-597)CTC>TTC	p.L199F		NM_003604	NP_003595	O14654	IRS4_HUMAN	insulin receptor substrate 4	199	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	107978980	107978980	8146	23	G	A	A	35	35	IRS4	A	2	2
DCAF12L1	139170	broad.mit.edu	37	X	125686050	125686050	+	Missense_Mutation	SNP	G	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:125686050G>C	uc004eul.2	-	1	793	c.542C>G	c.(541-543)TCC>TGC	p.S181C		NM_178470	NP_848565	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	181	WD 1.									skin(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	125686050	125686050	4435	23	G	C	C	41	41	DCAF12L1	C	3	3
OCRL	4952	broad.mit.edu	37	X	128709990	128709990	+	Silent	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128709990C>T	uc004euq.2	+	17	1995	c.1830C>T	c.(1828-1830)TAC>TAT	p.Y610Y	OCRL_uc004eur.2_Silent_p.Y610Y	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	610					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4																		---	---	---	---	capture		Silent	SNP	128709990	128709990	11228	23	C	T	T	20	20	OCRL	T	2	2
OCRL	4952	broad.mit.edu	37	X	128722174	128722174	+	Missense_Mutation	SNP	C	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:128722174C>T	uc004euq.2	+	21	2440	c.2275C>T	c.(2275-2277)CCT>TCT	p.P759S	OCRL_uc004eur.2_Missense_Mutation_p.P751S|OCRL_uc010nrb.2_5'Flank	NM_000276	NP_000267	Q01968	OCRL_HUMAN	phosphatidylinositol polyphosphate 5-phosphatase	759	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			lung(2)|ovary(1)|kidney(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	128722174	128722174	11228	23	C	T	T	22	22	OCRL	T	2	2
FAM127C	441518	broad.mit.edu	37	X	134156424	134156424	+	Silent	SNP	G	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134156424G>A	uc004eyc.1	-	1	143	c.66C>T	c.(64-66)CGC>CGT	p.R22R		NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	22											0	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Silent	SNP	134156424	134156424	5630	23	G	A	A	34	34	FAM127C	A	2	2
GPR112	139378	broad.mit.edu	37	X	135443706	135443706	+	Nonsense_Mutation	SNP	A	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135443706A>T	uc004ezu.1	+	12	7528	c.7237A>T	c.(7237-7239)AGA>TGA	p.R2413*	GPR112_uc010nsb.1_Nonsense_Mutation_p.R2208*|GPR112_uc010nsc.1_Nonsense_Mutation_p.R2041*	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	G-protein coupled receptor 112	2413	Extracellular (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Nonsense_Mutation	SNP	135443706	135443706	6903	23	A	T	T	7	7	GPR112	T	5	4
CD40LG	959	broad.mit.edu	37	X	135738538	135738538	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:135738538G>T	uc004faa.2	+	4	442	c.370G>T	c.(370-372)GCA>TCA	p.A124S	CD40LG_uc010nsd.2_Intron|CD40LG_uc010nse.1_RNA	NM_000074	NP_000065	P29965	CD40L_HUMAN	CD40 ligand	124	Extracellular (Potential).				anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			skin(1)	1	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)									Immune_Deficiency_with_Hyper-IgM				---	---	---	---	capture		Missense_Mutation	SNP	135738538	135738538	3144	23	G	T	T	42	42	CD40LG	T	2	2
F9	2158	broad.mit.edu	37	X	138644099	138644099	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138644099G>T	uc004fas.1	+	8	1284	c.1255G>T	c.(1255-1257)GTG>TTG	p.V419L	F9_uc004fat.1_Missense_Mutation_p.V381L	NM_000133	NP_000124	P00740	FA9_HUMAN	coagulation factor IX preproprotein	419	Peptidase S1.		V -> E (in HEMB; moderately severe).		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)													---	---	---	---	capture		Missense_Mutation	SNP	138644099	138644099	5548	23	G	T	T	36	36	F9	T	2	2
ATP11C	286410	broad.mit.edu	37	X	138870478	138870478	+	Missense_Mutation	SNP	C	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:138870478C>A	uc004faz.2	-	14	1501	c.1402G>T	c.(1402-1404)GCC>TCC	p.A468S	ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.A468S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C isoform a	468	Cytoplasmic (Potential).				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)																	---	---	---	---	capture		Missense_Mutation	SNP	138870478	138870478	1140	23	C	A	A	25	25	ATP11C	A	2	2
MAGEC1	9947	broad.mit.edu	37	X	140994297	140994297	+	Silent	SNP	C	A	A	rs140945820	byFrequency	TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140994297C>A	uc004fbt.2	+	4	1393	c.1107C>A	c.(1105-1107)CCC>CCA	p.P369P	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	369							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)														HNSCC(15;0.026)			---	---	---	---	capture		Silent	SNP	140994297	140994297	9561	23	C	A	A	22	22	MAGEC1	A	2	2
MAGEC2	51438	broad.mit.edu	37	X	141291463	141291463	+	Missense_Mutation	SNP	C	G	G			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:141291463C>G	uc004fbu.1	-	3	659	c.311G>C	c.(310-312)TGC>TCC	p.C104S		NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	104	Ser-rich.					cytoplasm|nucleus				breast(2)	2	Acute lymphoblastic leukemia(192;6.56e-05)														HNSCC(46;0.14)			---	---	---	---	capture		Missense_Mutation	SNP	141291463	141291463	9562	23	C	G	G	25	25	MAGEC2	G	3	3
FMR1	2332	broad.mit.edu	37	X	147009842	147009842	+	Silent	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:147009842G>T	uc010nst.2	+	4	390	c.201G>T	c.(199-201)GTG>GTT	p.V67V	FMR1_uc011mwz.1_Silent_p.V67V|FMR1_uc004fcj.2_Silent_p.V67V|FMR1_uc004fck.3_Silent_p.V67V|FMR1_uc004fcl.3_5'UTR|FMR1_uc011mxa.1_5'Flank	NM_002024	NP_002015	Q06787	FMR1_HUMAN	fragile X mental retardation 1	67					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			ovary(2)|pancreas(1)	3	Acute lymphoblastic leukemia(192;6.56e-05)													Fragile_X_syndrome				---	---	---	---	capture		Silent	SNP	147009842	147009842	6202	23	G	T	T	48	48	FMR1	T	2	2
PNMA5	114824	broad.mit.edu	37	X	152159451	152159451	+	Missense_Mutation	SNP	A	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:152159451A>C	uc010ntw.2	-	3	1031	c.692T>G	c.(691-693)CTA>CGA	p.L231R	PNMA5_uc004fha.3_Missense_Mutation_p.L231R|PNMA5_uc010ntx.2_Missense_Mutation_p.L231R|PNMA5_uc004fgy.3_Missense_Mutation_p.L231R	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN	paraneoplastic antigen like 5	231					apoptosis					ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	152159451	152159451	12582	23	A	C	C	15	15	PNMA5	C	4	4
FLNA	2316	broad.mit.edu	37	X	153596279	153596279	+	Missense_Mutation	SNP	T	C	C			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153596279T>C	uc004fkk.2	-	3	802	c.553A>G	c.(553-555)ATC>GTC	p.I185V	FLNA_uc010nuu.1_Missense_Mutation_p.I185V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	filamin A, alpha isoform 2	185	CH 2.|Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)																	---	---	---	---	capture		Missense_Mutation	SNP	153596279	153596279	6175	23	T	C	C	51	51	FLNA	C	4	4
SLC10A3	8273	broad.mit.edu	37	X	153715906	153715906	+	Silent	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153715906G>T	uc004flq.2	-	3	1638	c.1374C>A	c.(1372-1374)TCC>TCA	p.S458S	UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Silent_p.S429S|SLC10A3_uc004flp.2_Silent_p.S458S	NM_001142392	NP_001135864	P09131	P3_HUMAN	solute carrier family 10, member 3 isoform 1	458	Helical; (Potential).				organic anion transport	integral to membrane	bile acid:sodium symporter activity			ovary(1)|skin(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)																	---	---	---	---	capture		Silent	SNP	153715906	153715906	14870	23	G	T	T	39	39	SLC10A3	T	1	1
G6PD	2539	broad.mit.edu	37	X	153774349	153774349	+	Missense_Mutation	SNP	T	A	A			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153774349T>A	uc004fly.1	-	2	135	c.22A>T	c.(22-24)AGC>TGC	p.S8C	G6PD_uc004flx.1_Missense_Mutation_p.S38C|IKBKG_uc011mzr.1_Intron|IKBKG_uc010nva.2_5'Flank|IKBKG_uc004fmb.3_5'Flank|IKBKG_uc011mzs.1_5'Flank|IKBKG_uc004fma.3_5'Flank|IKBKG_uc004fmc.3_5'Flank|IKBKG_uc004fmd.2_5'Flank	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase isoform b	8					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			ovary(4)	4	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)																	---	---	---	---	capture		Missense_Mutation	SNP	153774349	153774349	6397	23	T	A	A	54	54	G6PD	A	4	4
RAB39B	116442	broad.mit.edu	37	X	154493498	154493498	+	Missense_Mutation	SNP	G	T	T			TCGA-43-2578-01	TCGA-43-2578-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154493498G>T	uc004fne.2	-	1	355	c.76C>A	c.(76-78)CGC>AGC	p.R26S		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	RAB39B, member RAS oncogene family	26					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding				0	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---	capture		Missense_Mutation	SNP	154493498	154493498	13389	23	G	T	T	39	39	RAB39B	T	1	1
