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
TMEM131	23505	broad.mit.edu	37	2	98375392	98375393	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:98375392_98375393CC>AA	uc002syh.3	-	40	5559_5560	c.5330_5331GG>TT	c.(5329-5331)TGG>TTT	p.W1777F	TMEM131_uc002syg.2_Missense_Mutation_p.W157F	NM_015348	NP_056163	Q92545	TM131_HUMAN	RW1 protein	1777	Ser-rich.					integral to membrane				ovary(4)|central_nervous_system(2)	6																		---	---	---	---	capture		Missense_Mutation	DNP	98375392	98375393	16575	2	CC	AA	AA	26	26	TMEM131	AA	2	2
CRYGA	1418	broad.mit.edu	37	2	209027951	209027952	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209027951_209027952GG>TT	uc002vcq.3	-	2	245_246	c.228_229CC>AA	c.(226-231)GTCCAA>GTAAAA	p.Q77K		NM_014617	NP_055432	P11844	CRGA_HUMAN	crystallin, gamma A	77	Beta/gamma crystallin 'Greek key' 2.				visual perception		structural constituent of eye lens				0				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)														---	---	---	---	capture		Missense_Mutation	DNP	209027951	209027952	4053	2	GG	TT	TT	47	47	CRYGA	TT	2	2
PES1	23481	broad.mit.edu	37	22	30975749	30975750	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:30975749_30975750CC>TT	uc003aij.1	-	12	1416_1417	c.1342_1343GG>AA	c.(1342-1344)GGA>AAA	p.G448K	PES1_uc003aik.1_Missense_Mutation_p.G443K|PES1_uc003ail.1_Missense_Mutation_p.G431K|PES1_uc003aim.1_Missense_Mutation_p.G448K|PES1_uc003ain.1_Missense_Mutation_p.G309K|PES1_uc003aio.1_Missense_Mutation_p.G309K	NM_014303	NP_055118	O00541	PESC_HUMAN	pescadillo homolog 1, containing BRCT domain	448					cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding				0																		---	---	---	---	capture		Missense_Mutation	DNP	30975749	30975750	12154	22	CC	TT	TT	30	30	PES1	TT	2	2
IBTK	25998	broad.mit.edu	37	6	82882108	82882109	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:82882108_82882109CC>AA	uc003pjl.1	-	28	4445_4446	c.3918_3919GG>TT	c.(3916-3921)TTGGCT>TTTTCT	p.1306_1307LA>FS	IBTK_uc011dyu.1_Missense_Mutation_p.257_258LA>FS|IBTK_uc011dyv.1_Missense_Mutation_p.1291_1292LA>FS|IBTK_uc011dyw.1_Missense_Mutation_p.1105_1106LA>FS|IBTK_uc010kbi.1_Missense_Mutation_p.1000_1001LA>FS	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	1306_1307					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)														---	---	---	---	capture		Missense_Mutation	DNP	82882108	82882109	7776	6	CC	AA	AA	26	26	IBTK	AA	2	2
PIP4K2C	79837	broad.mit.edu	37	12	57988919	57988919	+	Frame_Shift_Del	DEL	C	-	-			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57988919delC	uc001sou.2	+	3	414	c.283delC	c.(283-285)CCCfs	p.P95fs	PIP4K2C_uc001sot.2_Frame_Shift_Del_p.P95fs|PIP4K2C_uc010srs.1_Intron|PIP4K2C_uc010srt.1_Frame_Shift_Del_p.P95fs	NM_001146258	NP_001139730	Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type	95	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			central_nervous_system(2)|lung(1)	3	Melanoma(17;0.122)																	---	---	---	---	capture_indel		Frame_Shift_Del	DEL	57988919	57988919	12362	12	C	-	-	26	26	PIP4K2C	-	5	5
WHAMM	123720	broad.mit.edu	37	15	83486821	83486822	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83486821_83486822delAG	uc002bje.2	+	4	1590_1591	c.1084_1085delAG	c.(1084-1086)AGAfs	p.R362fs		NM_001080435	NP_001073904	Q8TF30	WHAMM_HUMAN	WAS protein homolog associated with actin, golgi	362						cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus	actin binding				0																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	83486821	83486822	17935	15	AG	-	-	3	3	WHAMM	-	5	5
ZNF99	7652	broad.mit.edu	37	19	22940929	22940929	+	Frame_Shift_Del	DEL	T	-	-			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22940929delT	uc010xrh.1	-	5	1509	c.1509delA	c.(1507-1509)AAAfs	p.K503fs		NM_001080409	NP_001073878			zinc finger protein 99											ovary(1)|skin(1)	2		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)																---	---	---	---	capture_indel		Frame_Shift_Del	DEL	22940929	22940929	18808	19	T	-	-	52	52	ZNF99	-	5	5
FAM83B	222584	broad.mit.edu	37	6	54735463	54735463	+	Frame_Shift_Del	DEL	G	-	-			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:54735463delG	uc003pck.2	+	2	535	c.419delG	c.(418-420)CGGfs	p.R140fs		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	hypothetical protein LOC222584	140								p.R140R(1)		ovary(6)	6	Lung NSC(77;0.0178)|Renal(3;0.122)																	---	---	---	---	capture_indel		Frame_Shift_Del	DEL	54735463	54735463	5860	6	G	-	-	39	39	FAM83B	-	5	5
SRCRB4D	136853	broad.mit.edu	37	7	76023195	76023195	+	Frame_Shift_Del	DEL	G	-	-			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:76023195delG	uc003ufb.2	-	8	1321	c.973delC	c.(973-975)CGGfs	p.R325fs	SRCRB4D_uc003ufa.2_5'Flank	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain	325						extracellular region|membrane	scavenger receptor activity			pancreas(1)	1																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	76023195	76023195	15651	7	G	-	-	39	39	SRCRB4D	-	5	5
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	-	-			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144511954_144511956delTGG	uc003yyc.1	-	1	621_623	c.621_623delCCA	c.(619-624)CACCAT>CAT	p.207_208HH>H		NM_201589	NP_963883	Q8NHW3	MAFA_HUMAN	v-maf musculoaponeurotic fibrosarcoma oncogene	207_208	His-rich.				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)												HNSCC(29;0.082)			---	---	---	---	capture_indel		In_Frame_Del	DEL	144511954	144511956	9534	8	TGG	-	-	51	51	MAFA	-	5	5
TLR4	7099	broad.mit.edu	37	9	120475852	120475852	+	Frame_Shift_Del	DEL	T	-	-			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:120475852delT	uc004bjz.2	+	3	1737	c.1446delT	c.(1444-1446)TCTfs	p.S482fs	TLR4_uc004bka.2_Frame_Shift_Del_p.S442fs|TLR4_uc004bkb.2_Frame_Shift_Del_p.S282fs	NM_138554	NP_612564	O00206	TLR4_HUMAN	toll-like receptor 4 precursor	482	LRR 15.|Extracellular (Potential).				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			lung(10)|ovary(4)|breast(1)|skin(1)	16																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	120475852	120475852	16483	9	T	-	-	56	56	TLR4	-	5	5
MIB2	142678	broad.mit.edu	37	1	1562240	1562240	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:1562240G>T	uc001agg.2	+	10	1402	c.1275G>T	c.(1273-1275)GTG>GTT	p.V425V	MIB2_uc001agh.2_Silent_p.V411V|MIB2_uc001agi.2_Silent_p.V421V|MIB2_uc001agj.2_Silent_p.V266V|MIB2_uc001agk.2_Silent_p.V360V|MIB2_uc001agl.1_Silent_p.V381V|MIB2_uc001agm.2_Silent_p.V302V|MIB2_uc010nyq.1_Silent_p.V381V|MIB2_uc009vkh.2_Silent_p.V231V|MIB2_uc001agn.2_Silent_p.V57V|MIB2_uc001ago.2_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	mindbomb homolog 2	425					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding				0	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)														---	---	---	---	capture		Silent	SNP	1562240	1562240	9957	1	G	T	T	47	47	MIB2	T	2	2
ARHGEF16	27237	broad.mit.edu	37	1	3389665	3389665	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3389665G>A	uc001akg.3	+	7	1294	c.1046G>A	c.(1045-1047)CGG>CAG	p.R349Q	ARHGEF16_uc001aki.2_Missense_Mutation_p.R61Q|ARHGEF16_uc001akj.2_Missense_Mutation_p.R61Q|ARHGEF16_uc009vli.1_Missense_Mutation_p.R53Q|ARHGEF16_uc010nzh.1_Missense_Mutation_p.R53Q	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	349	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			ovary(1)	1	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)														---	---	---	---	capture		Missense_Mutation	SNP	3389665	3389665	913	1	G	A	A	39	39	ARHGEF16	A	1	1
TAS1R1	80835	broad.mit.edu	37	1	6636553	6636553	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6636553A>T	uc001ant.2	+	4	1339	c.1339A>T	c.(1339-1341)AGT>TGT	p.S447C	TAS1R1_uc001anu.2_Missense_Mutation_p.S193C|TAS1R1_uc001anv.2_Missense_Mutation_p.S193C|TAS1R1_uc001anw.2_Intron	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	sweet taste receptor T1r isoform b	447	Extracellular (Potential).				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			ovary(1)|central_nervous_system(1)|skin(1)	3	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)														---	---	---	---	capture		Missense_Mutation	SNP	6636553	6636553	16084	1	A	T	T	7	7	TAS1R1	T	4	4
SLC45A1	50651	broad.mit.edu	37	1	8398050	8398050	+	Nonsense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:8398050C>G	uc001apb.2	+	6	1772	c.1772C>G	c.(1771-1773)TCA>TGA	p.S591*	SLC45A1_uc001apc.2_Nonsense_Mutation_p.S289*	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	DNB5	591	Helical; (Potential).				carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|pancreas(1)|skin(1)	4	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	capture		Nonsense_Mutation	SNP	8398050	8398050	15137	1	C	G	G	29	29	SLC45A1	G	5	3
VPS13D	55187	broad.mit.edu	37	1	12516115	12516115	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12516115G>T	uc001atv.2	+	66	12536	c.12395G>T	c.(12394-12396)CGG>CTG	p.R4132L	VPS13D_uc001atw.2_Missense_Mutation_p.R4107L|VPS13D_uc001atx.2_Missense_Mutation_p.R3319L|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Missense_Mutation_p.R130L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	4131					protein localization					ovary(4)|pancreas(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)														---	---	---	---	capture		Missense_Mutation	SNP	12516115	12516115	17759	1	G	T	T	39	39	VPS13D	T	1	1
GRHL3	57822	broad.mit.edu	37	1	24663009	24663009	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:24663009C>A	uc001biy.2	+	4	365	c.319C>A	c.(319-321)CCC>ACC	p.P107T	GRHL3_uc001bix.2_Missense_Mutation_p.P102T|GRHL3_uc001biz.2_Missense_Mutation_p.P9T	NM_021180	NP_067003	Q8TE85	GRHL3_HUMAN	sister-of-mammalian grainyhead protein isoform	102					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(1)	1		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)														---	---	---	---	capture		Missense_Mutation	SNP	24663009	24663009	7043	1	C	A	A	30	30	GRHL3	A	2	2
BSDC1	55108	broad.mit.edu	37	1	32841982	32841982	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:32841982G>A	uc001bvh.3	-	9	1084	c.1037C>T	c.(1036-1038)CCA>CTA	p.P346L	BSDC1_uc010ohg.1_Missense_Mutation_p.P363L|BSDC1_uc010ohh.1_Missense_Mutation_p.P290L|BSDC1_uc010ohi.1_Missense_Mutation_p.P251L|BSDC1_uc001bvg.3_RNA|BSDC1_uc001bvj.2_Missense_Mutation_p.P242L|BSDC1_uc001bvi.2_Missense_Mutation_p.P363L	NM_018045	NP_060515	Q9NW68	BSDC1_HUMAN	BSD domain containing 1 isoform b	346							protein binding			upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)																---	---	---	---	capture		Missense_Mutation	SNP	32841982	32841982	1559	1	G	A	A	47	47	BSDC1	A	2	2
TRIM62	55223	broad.mit.edu	37	1	33625491	33625491	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33625491G>T	uc001bxb.2	-	3	1197	c.559C>A	c.(559-561)CGG>AGG	p.R187R		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	187	Potential.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)																---	---	---	---	capture		Silent	SNP	33625491	33625491	17083	1	G	T	T	39	39	TRIM62	T	1	1
KIAA0319L	79932	broad.mit.edu	37	1	35921645	35921645	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35921645G>T	uc001byx.2	-	10	1883	c.1625C>A	c.(1624-1626)CCA>CAA	p.P542Q	KIAA0319L_uc001byw.2_5'Flank|KIAA0319L_uc010ohv.1_Missense_Mutation_p.P184Q	NM_024874	NP_079150	Q8IZA0	K319L_HUMAN	dyslexia susceptibility 2-like	542	PKD 3.|Extracellular (Potential).					cytoplasmic vesicle part|integral to membrane	protein binding			skin(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---	capture		Missense_Mutation	SNP	35921645	35921645	8476	1	G	T	T	47	47	KIAA0319L	T	2	2
SNIP1	79753	broad.mit.edu	37	1	38003387	38003387	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38003387C>A	uc001cbi.2	-	4	1226	c.1153G>T	c.(1153-1155)GAG>TAG	p.E385*	SNIP1_uc010oid.1_RNA	NM_024700	NP_078976	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein	385	Poly-Glu.				production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			upper_aerodigestive_tract(1)|lung(1)	2		Myeloproliferative disorder(586;0.0393)																---	---	---	---	capture		Nonsense_Mutation	SNP	38003387	38003387	15348	1	C	A	A	31	31	SNIP1	A	5	1
EBNA1BP2	10969	broad.mit.edu	37	1	43636488	43636488	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:43636488G>T	uc001cin.2	-	4	583	c.386C>A	c.(385-387)CCT>CAT	p.P129H	EBNA1BP2_uc001cio.2_Missense_Mutation_p.P184H|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_Missense_Mutation_p.P24H|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.P184H	NM_006824	NP_006815	Q99848	EBP2_HUMAN	EBNA1 binding protein 2 isoform 2	129					ribosome biogenesis	membrane fraction|nucleolus	protein binding				0	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)																---	---	---	---	capture		Missense_Mutation	SNP	43636488	43636488	5072	1	G	T	T	35	35	EBNA1BP2	T	2	2
TMEM69	51249	broad.mit.edu	37	1	46159153	46159153	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46159153C>A	uc001cor.1	+	3	516	c.320C>A	c.(319-321)CCC>CAC	p.P107H		NM_016486	NP_057570	Q5SWH9	TMM69_HUMAN	transmembrane protein 69	107	Helical; (Potential).					integral to membrane				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	46159153	46159153	16737	1	C	A	A	22	22	TMEM69	A	2	2
TSPAN1	10103	broad.mit.edu	37	1	46650514	46650514	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46650514C>A	uc001cpd.2	+	6	861	c.397C>A	c.(397-399)CAG>AAG	p.Q133K	TSPAN1_uc009vyd.1_Missense_Mutation_p.Q133K	NM_005727	NP_005718	O60635	TSN1_HUMAN	tetraspan 1	133	Extracellular (Potential).					integral to membrane|lysosomal membrane				ovary(1)	1	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)																---	---	---	---	capture		Missense_Mutation	SNP	46650514	46650514	17184	1	C	A	A	21	21	TSPAN1	A	2	2
STIL	6491	broad.mit.edu	37	1	47717492	47717492	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47717492C>G	uc001crc.1	-	17	3335	c.3180G>C	c.(3178-3180)TTG>TTC	p.L1060F	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.L1014F|STIL_uc010omo.1_Missense_Mutation_p.L1043F|STIL_uc001crd.1_Missense_Mutation_p.L1061F|STIL_uc001cre.1_Missense_Mutation_p.L1060F	NM_003035	NP_003026	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus isoform 2	1060					cell proliferation|multicellular organismal development	centrosome|cytosol				lung(2)|skin(1)	3		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)																---	---	---	---	capture		Missense_Mutation	SNP	47717492	47717492	15802	1	C	G	G	29	29	STIL	G	3	3
CMPK1	51727	broad.mit.edu	37	1	47838719	47838719	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:47838719C>G	uc001cri.2	+	3	560	c.411C>G	c.(409-411)AAC>AAG	p.N137K	CMPK1_uc010omp.1_Missense_Mutation_p.N88K|CMPK1_uc010omq.1_RNA	NM_016308	NP_057392	P30085	KCY_HUMAN	UMP-CMP kinase 1 isoform a	105					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			ovary(1)	1					Gemcitabine(DB00441)													---	---	---	---	capture		Missense_Mutation	SNP	47838719	47838719	3718	1	C	G	G	17	17	CMPK1	G	3	3
ZFYVE9	9372	broad.mit.edu	37	1	52803487	52803487	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:52803487G>C	uc001cto.2	+	16	3886	c.3714G>C	c.(3712-3714)TTG>TTC	p.L1238F	ZFYVE9_uc001ctp.2_Missense_Mutation_p.L1179F	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9 isoform 3	1238					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8																		---	---	---	---	capture		Missense_Mutation	SNP	52803487	52803487	18261	1	G	C	C	45	45	ZFYVE9	C	3	3
CDCP2	200008	broad.mit.edu	37	1	54610191	54610191	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:54610191G>C	uc001cwv.1	-	2	1223	c.375C>G	c.(373-375)TTC>TTG	p.F125L		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2 precursor	125	CUB 1.					extracellular region				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	54610191	54610191	3223	1	G	C	C	41	41	CDCP2	C	3	3
CACHD1	57685	broad.mit.edu	37	1	65138935	65138935	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:65138935C>A	uc001dbo.1	+	18	2557	c.2452C>A	c.(2452-2454)CAC>AAC	p.H818N	CACHD1_uc001dbp.1_Missense_Mutation_p.H573N|CACHD1_uc001dbq.1_Missense_Mutation_p.H573N|CACHD1_uc010opa.1_Missense_Mutation_p.H62N	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	cache domain containing 1	869	Extracellular (Potential).				calcium ion transport	integral to membrane				ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	65138935	65138935	2653	1	C	A	A	21	21	CACHD1	A	2	2
ZZZ3	26009	broad.mit.edu	37	1	78098484	78098484	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78098484C>A	uc001dhq.2	-	5	1032	c.556G>T	c.(556-558)GGG>TGG	p.G186W	ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.G186W|ZZZ3_uc001dhp.2_Missense_Mutation_p.G186W	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(4)|large_intestine(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	78098484	78098484	18862	1	C	A	A	24	24	ZZZ3	A	2	2
PTGFR	5737	broad.mit.edu	37	1	78958457	78958457	+	Missense_Mutation	SNP	T	A	A	rs115647706	byFrequency;by1000genomes	TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:78958457T>A	uc001din.2	+	2	295	c.29T>A	c.(28-30)GTG>GAG	p.V10E	PTGFR_uc001dim.2_Missense_Mutation_p.V10E	NM_000959	NP_000950	P43088	PF2R_HUMAN	prostaglandin F receptor isoform a precursor	10	Extracellular (Potential).				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			ovary(3)|breast(2)|skin(1)	6				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)													---	---	---	---	capture		Missense_Mutation	SNP	78958457	78958457	13204	1	T	A	A	59	59	PTGFR	A	4	4
WDR63	126820	broad.mit.edu	37	1	85573813	85573813	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85573813C>G	uc001dkt.2	+	15	1842	c.1651C>G	c.(1651-1653)CCA>GCA	p.P551A	WDR63_uc009wcl.2_Missense_Mutation_p.P512A	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	551										upper_aerodigestive_tract(2)|ovary(2)|skin(1)	5				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)														---	---	---	---	capture		Missense_Mutation	SNP	85573813	85573813	17887	1	C	G	G	18	18	WDR63	G	3	3
SYDE2	84144	broad.mit.edu	37	1	85655743	85655743	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:85655743C>A	uc009wcm.2	-	2	1487	c.1438G>T	c.(1438-1440)GCA>TCA	p.A480S	SYDE2_uc001dku.3_Missense_Mutation_p.A480S	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2	480					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			ovary(1)|central_nervous_system(1)	2				all cancers(265;0.0126)|Epithelial(280;0.0336)														---	---	---	---	capture		Missense_Mutation	SNP	85655743	85655743	15957	1	C	A	A	25	25	SYDE2	A	2	2
PKN2	5586	broad.mit.edu	37	1	89279297	89279297	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89279297G>T	uc001dmn.2	+	16	2502	c.2160G>T	c.(2158-2160)TTG>TTT	p.L720F	PKN2_uc010osp.1_Missense_Mutation_p.L704F|PKN2_uc010osq.1_Missense_Mutation_p.L563F|PKN2_uc009wcv.2_Missense_Mutation_p.L672F|PKN2_uc010osr.1_Missense_Mutation_p.L385F	NM_006256	NP_006247	Q16513	PKN2_HUMAN	protein kinase N2	720	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			large_intestine(1)|lung(1)|skin(1)	3		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)														---	---	---	---	capture		Missense_Mutation	SNP	89279297	89279297	12405	1	G	T	T	47	47	PKN2	T	2	2
PTPN22	26191	broad.mit.edu	37	1	114380790	114380790	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114380790T>C	uc001eds.2	-	13	1362	c.1232A>G	c.(1231-1233)AAG>AGG	p.K411R	PTPN22_uc009wgq.2_Missense_Mutation_p.K356R|PTPN22_uc010owo.1_Missense_Mutation_p.K167R|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.K411R|PTPN22_uc009wgs.2_Missense_Mutation_p.K284R|PTPN22_uc001edu.2_Missense_Mutation_p.K411R	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type	411					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			kidney(2)|lung(1)|skin(1)	4	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---	capture		Missense_Mutation	SNP	114380790	114380790	13244	1	T	C	C	56	56	PTPN22	C	4	4
IGSF3	3321	broad.mit.edu	37	1	117127411	117127411	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:117127411G>T	uc001egr.1	-	9	3409	c.2704C>A	c.(2704-2706)CGT>AGT	p.R902S	IGSF3_uc001egq.1_Missense_Mutation_p.R922S|IGSF3_uc001egs.1_Missense_Mutation_p.R575S	NM_001007237	NP_001007238	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3 isoform 2	902	Ig-like C2-type 7.|Extracellular (Potential).					integral to membrane				ovary(2)	2	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)														---	---	---	---	capture		Missense_Mutation	SNP	117127411	117127411	7902	1	G	T	T	39	39	IGSF3	T	1	1
C1orf54	79630	broad.mit.edu	37	1	150248195	150248195	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150248195C>T	uc001eud.2	+	3	214	c.176C>T	c.(175-177)TCA>TTA	p.S59L	C1orf54_uc001euc.2_Missense_Mutation_p.S59L|C1orf54_uc001eue.2_Missense_Mutation_p.S59L|C1orf54_uc001euf.2_Missense_Mutation_p.S59L|C1orf54_uc001eug.2_Missense_Mutation_p.S59L	NM_024579	NP_078855	Q8WWF1	CA054_HUMAN	hypothetical protein LOC79630 precursor	59						extracellular region					0	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)															---	---	---	---	capture		Missense_Mutation	SNP	150248195	150248195	2120	1	C	T	T	29	29	C1orf54	T	2	2
PRPF3	9129	broad.mit.edu	37	1	150305169	150305169	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150305169G>T	uc001eum.3	+	5	600	c.438G>T	c.(436-438)ATG>ATT	p.M146I	PRPF3_uc009wlp.2_RNA|PRPF3_uc010pca.1_Missense_Mutation_p.M105I|PRPF3_uc010pcb.1_Missense_Mutation_p.M97I|PRPF3_uc009wlq.1_5'Flank	NM_004698	NP_004689	O43395	PRPF3_HUMAN	PRP3 pre-mRNA processing factor 3 homolog	146					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			ovary(1)	1	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)														---	---	---	---	capture		Missense_Mutation	SNP	150305169	150305169	13008	1	G	T	T	47	47	PRPF3	T	2	2
RPRD2	23248	broad.mit.edu	37	1	150443610	150443610	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:150443610G>T	uc009wlr.2	+	11	2387	c.2186G>T	c.(2185-2187)CGG>CTG	p.R729L	RPRD2_uc010pcc.1_Missense_Mutation_p.R703L|RPRD2_uc001eup.3_Missense_Mutation_p.R703L	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Regulation of nuclear pre-mRNA domain containing	729	Ser-rich.						protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	150443610	150443610	14096	1	G	T	T	39	39	RPRD2	T	1	1
UBAP2L	9898	broad.mit.edu	37	1	154229595	154229595	+	Silent	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:154229595C>T	uc001fep.3	+	19	2381	c.2214C>T	c.(2212-2214)ACC>ACT	p.T738T	UBAP2L_uc009wot.2_Silent_p.T738T|UBAP2L_uc010pek.1_Silent_p.T730T|UBAP2L_uc010pel.1_Silent_p.T748T|UBAP2L_uc010pen.1_Silent_p.T652T|UBAP2L_uc001feq.2_5'UTR|UBAP2L_uc001fer.2_5'UTR	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like isoform a	738					binding of sperm to zona pellucida		protein binding			ovary(1)|central_nervous_system(1)	2	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)															---	---	---	---	capture		Silent	SNP	154229595	154229595	17395	1	C	T	T	21	21	UBAP2L	T	2	2
SEMA4A	64218	broad.mit.edu	37	1	156146475	156146475	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:156146475G>T	uc001fnl.2	+	15	2077	c.1973G>T	c.(1972-1974)CGG>CTG	p.R658L	SEMA4A_uc009wrq.2_Missense_Mutation_p.R658L|SEMA4A_uc001fnm.2_Missense_Mutation_p.R658L|SEMA4A_uc001fnn.2_Missense_Mutation_p.R526L|SEMA4A_uc001fno.2_Missense_Mutation_p.R658L	NM_022367	NP_071762	Q9H3S1	SEM4A_HUMAN	semaphorin B precursor	658	Extracellular (Potential).				axon guidance	integral to membrane|plasma membrane	receptor activity			ovary(1)|skin(1)	2	Hepatocellular(266;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	156146475	156146475	14517	1	G	T	T	39	39	SEMA4A	T	1	1
ETV3L	440695	broad.mit.edu	37	1	157062453	157062453	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:157062453C>A	uc001fqq.1	-	5	1359	c.1074G>T	c.(1072-1074)TTG>TTT	p.L358F		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	358						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4	Hepatocellular(266;0.158)	Prostate(1639;0.184)																---	---	---	---	capture		Missense_Mutation	SNP	157062453	157062453	5473	1	C	A	A	21	21	ETV3L	A	2	2
KIRREL	55243	broad.mit.edu	37	1	158057941	158057941	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158057941C>A	uc001frn.3	+	7	1317	c.913C>A	c.(913-915)CAC>AAC	p.H305N	KIRREL_uc010pib.1_Missense_Mutation_p.H205N|KIRREL_uc009wsq.2_Missense_Mutation_p.H141N|KIRREL_uc001fro.3_Missense_Mutation_p.H103N	NM_018240	NP_060710	Q96J84	KIRR1_HUMAN	kin of IRRE like precursor	305	Extracellular (Potential).					integral to membrane				ovary(1)	1	all_hematologic(112;0.0378)															OREG0013906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	158057941	158057941	8636	1	C	A	A	21	21	KIRREL	A	2	2
ATP1A2	477	broad.mit.edu	37	1	160100080	160100080	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160100080G>T	uc001fvc.2	+	12	1782	c.1650G>T	c.(1648-1650)CTG>CTT	p.L550L	ATP1A2_uc001fvb.2_Silent_p.L550L|ATP1A2_uc001fvd.2_Silent_p.L286L|ATP1A2_uc009wtg.1_Silent_p.L238L	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Na+/K+ -ATPase alpha 2 subunit proprotein	550	Cytoplasmic (Potential).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			central_nervous_system(3)|ovary(2)|skin(2)	7	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)															---	---	---	---	capture		Silent	SNP	160100080	160100080	1148	1	G	T	T	47	47	ATP1A2	T	2	2
APOA2	336	broad.mit.edu	37	1	161192260	161192260	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161192260C>A	uc001fzc.1	-	4	296	c.238G>T	c.(238-240)GGA>TGA	p.G80*	APOA2_uc001fzb.1_RNA	NM_001643	NP_001634	P02652	APOA2_HUMAN	apolipoprotein A-II preproprotein	80					cholesterol efflux|cholesterol homeostasis|diacylglycerol catabolic process|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|interspecies interaction between organisms|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol import|negative regulation of cholesterol transporter activity|negative regulation of cytokine secretion involved in immune response|negative regulation of lipase activity|negative regulation of lipid catabolic process|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid catabolic process|phospholipid efflux|positive regulation of cholesterol esterification|positive regulation of interleukin-8 biosynthetic process|positive regulation of lipid catabolic process|protein folding|regulation of protein stability|response to glucose stimulus|reverse cholesterol transport|triglyceride metabolic process|triglyceride-rich lipoprotein particle remodeling	chylomicron|endoplasmic reticulum lumen|spherical high-density lipoprotein particle|very-low-density lipoprotein particle	apolipoprotein receptor binding|cholesterol binding|high-density lipoprotein particle receptor binding|lipase inhibitor activity|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|protein heterodimerization activity|protein homodimerization activity			skin(1)	1	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---	capture		Nonsense_Mutation	SNP	161192260	161192260	793	1	C	A	A	21	21	APOA2	A	5	2
MPZ	4359	broad.mit.edu	37	1	161276685	161276685	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161276685G>T	uc001gaf.3	-	3	328	c.291C>A	c.(289-291)CCC>CCA	p.P97P	MPZ_uc010pko.1_RNA	NM_000530	NP_000521	P25189	MYP0_HUMAN	myelin protein zero	87	Ig-like V-type.|Extracellular (Potential).				synaptic transmission	integral to plasma membrane	structural molecule activity			ovary(2)|central_nervous_system(1)|pancreas(1)	4	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)															---	---	---	---	capture		Silent	SNP	161276685	161276685	10140	1	G	T	T	35	35	MPZ	T	2	2
PAPPA2	60676	broad.mit.edu	37	1	176564494	176564494	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176564494A>G	uc001gkz.2	+	3	2918	c.1754A>G	c.(1753-1755)AAC>AGC	p.N585S	PAPPA2_uc001gky.1_Missense_Mutation_p.N585S|PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	585	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---	capture		Missense_Mutation	SNP	176564494	176564494	11850	1	A	G	G	2	2	PAPPA2	G	4	4
PAPPA2	60676	broad.mit.edu	37	1	176668281	176668281	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176668281G>T	uc001gkz.2	+	8	3956	c.2792G>T	c.(2791-2793)TGG>TTG	p.W931L	PAPPA2_uc009www.2_RNA	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	pappalysin 2 isoform 1	931					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16																		---	---	---	---	capture		Missense_Mutation	SNP	176668281	176668281	11850	1	G	T	T	47	47	PAPPA2	T	2	2
RNASEL	6041	broad.mit.edu	37	1	182554630	182554630	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:182554630C>A	uc001gpj.1	-	1	1479	c.1312G>T	c.(1312-1314)GAG>TAG	p.E438*	RNASEL_uc009wxz.1_Nonsense_Mutation_p.E438*|RNASEL_uc001gpk.2_Nonsense_Mutation_p.E438*|RNASEL_uc009wya.1_Nonsense_Mutation_p.E438*	NM_021133	NP_066956	Q05823	RN5A_HUMAN	ribonuclease L	438	Protein kinase.|C6-type; atypical.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			ovary(4)|stomach(1)	5														Hereditary_Prostate_Cancer				---	---	---	---	capture		Nonsense_Mutation	SNP	182554630	182554630	13893	1	C	A	A	29	29	RNASEL	A	5	2
KIF14	9928	broad.mit.edu	37	1	200587074	200587074	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:200587074C>A	uc010ppk.1	-	2	1217	c.778G>T	c.(778-780)GGG>TGG	p.G260W	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	kinesin family member 14	260	Required for PRC1-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			breast(3)|ovary(2)|skin(2)	7																		---	---	---	---	capture		Missense_Mutation	SNP	200587074	200587074	8587	1	C	A	A	21	21	KIF14	A	2	2
NFASC	23114	broad.mit.edu	37	1	204948542	204948542	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:204948542C>A	uc001hbj.2	+	19	2359	c.2031C>A	c.(2029-2031)GAC>GAA	p.D677E	NFASC_uc010pra.1_Missense_Mutation_p.D673E|NFASC_uc001hbi.2_Missense_Mutation_p.D673E|NFASC_uc010prb.1_Missense_Mutation_p.D688E|NFASC_uc010prc.1_Missense_Mutation_p.D244E|NFASC_uc001hbk.1_Missense_Mutation_p.D483E|NFASC_uc001hbl.1_5'Flank	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	neurofascin isoform 1 precursor	677	Extracellular (Potential).|Fibronectin type-III 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)															---	---	---	---	capture		Missense_Mutation	SNP	204948542	204948542	10759	1	C	A	A	18	18	NFASC	A	2	2
RBBP5	5929	broad.mit.edu	37	1	205064080	205064080	+	Silent	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:205064080G>C	uc001hbu.1	-	13	1639	c.1509C>G	c.(1507-1509)CTC>CTG	p.L503L	RBBP5_uc010prd.1_Silent_p.L538L|RBBP5_uc001hbv.1_Intron|RBBP5_uc010pre.1_Silent_p.L370L	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	503					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			lung(1)	1	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)															---	---	---	---	capture		Silent	SNP	205064080	205064080	13563	1	G	C	C	33	33	RBBP5	C	3	3
CD34	947	broad.mit.edu	37	1	208062137	208062137	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:208062137G>T	uc001hgw.1	-	7	1120	c.862C>A	c.(862-864)CAA>AAA	p.Q288K	CD34_uc001hgv.1_Missense_Mutation_p.Q130K|CD34_uc001hgx.1_Missense_Mutation_p.Q288K|CD34_uc010psj.1_Missense_Mutation_p.Q153K	NM_001025109	NP_001020280	P28906	CD34_HUMAN	CD34 antigen isoform a	288	Extracellular (Potential).				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	208062137	208062137	3134	1	G	T	T	47	47	CD34	T	2	2
C1orf65	164127	broad.mit.edu	37	1	223568618	223568618	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223568618C>G	uc001hoa.2	+	1	1904	c.1801C>G	c.(1801-1803)CCC>GCC	p.P601A		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	601										central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)														---	---	---	---	capture		Missense_Mutation	SNP	223568618	223568618	2129	1	C	G	G	30	30	C1orf65	G	3	3
URB2	9816	broad.mit.edu	37	1	229772214	229772214	+	Silent	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:229772214T>C	uc001hts.1	+	4	1990	c.1854T>C	c.(1852-1854)GCT>GCC	p.A618A	URB2_uc009xfd.1_Silent_p.A618A	NM_014777	NP_055592	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog	618						nucleolus				central_nervous_system(2)|ovary(1)	3																		---	---	---	---	capture		Silent	SNP	229772214	229772214	17587	1	T	C	C	53	53	URB2	C	4	4
OR1C1	26188	broad.mit.edu	37	1	247921588	247921588	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:247921588C>A	uc010pza.1	-	1	121	c.121G>T	c.(121-123)GGG>TGG	p.G41W		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C,	41	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)															---	---	---	---	capture		Missense_Mutation	SNP	247921588	247921588	11358	1	C	A	A	22	22	OR1C1	A	2	2
NET1	10276	broad.mit.edu	37	10	5494346	5494346	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:5494346G>C	uc001iia.2	+	5	527	c.389G>C	c.(388-390)AGA>ACA	p.R130T	NET1_uc010qar.1_5'UTR|NET1_uc001iib.2_Missense_Mutation_p.R76T|NET1_uc010qas.1_5'UTR	NM_001047160	NP_001040625	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming gene 1 isoform	130					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	5494346	5494346	10737	10	G	C	C	33	33	NET1	C	3	3
PRKCQ	5588	broad.mit.edu	37	10	6549443	6549443	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:6549443G>C	uc001ijj.1	-	4	409	c.334C>G	c.(334-336)CAA>GAA	p.Q112E	PRKCQ_uc009xim.1_Missense_Mutation_p.Q112E|PRKCQ_uc001iji.1_Missense_Mutation_p.Q145E|PRKCQ_uc009xin.1_Missense_Mutation_p.Q76E|PRKCQ_uc010qax.1_Intron	NM_006257	NP_006248	Q04759	KPCT_HUMAN	protein kinase C, theta	112	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			ovary(3)|lung(2)|large_intestine(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	6549443	6549443	12958	10	G	C	C	45	45	PRKCQ	C	3	3
GPR158	57512	broad.mit.edu	37	10	25888200	25888200	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:25888200G>T	uc001isj.2	+	11	3705	c.3645G>T	c.(3643-3645)GTG>GTT	p.V1215V	GPR158_uc001isk.2_Silent_p.V590V	NM_020752	NP_065803	Q5T848	GP158_HUMAN	G protein-coupled receptor 158 precursor	1215	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8																		---	---	---	---	capture		Silent	SNP	25888200	25888200	6938	10	G	T	T	48	48	GPR158	T	2	2
SVIL	6840	broad.mit.edu	37	10	29821624	29821624	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:29821624G>T	uc001iut.1	-	8	2425	c.1672C>A	c.(1672-1674)CAG>AAG	p.Q558K	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.Q558K	NM_021738	NP_068506	O95425	SVIL_HUMAN	supervillin isoform 2	558					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			ovary(5)|upper_aerodigestive_tract(1)	6		Breast(68;0.103)																---	---	---	---	capture		Missense_Mutation	SNP	29821624	29821624	15941	10	G	T	T	47	47	SVIL	T	2	2
ZEB1	6935	broad.mit.edu	37	10	31812972	31812972	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:31812972G>C	uc001ivs.3	+	8	2776	c.2713G>C	c.(2713-2715)GCT>CCT	p.A905P	ZEB1_uc001ivr.3_Missense_Mutation_p.A687P|ZEB1_uc010qee.1_Missense_Mutation_p.A687P|ZEB1_uc010qef.1_Missense_Mutation_p.A687P|ZEB1_uc009xlk.1_Missense_Mutation_p.A687P|ZEB1_uc001ivt.3_Missense_Mutation_p.A687P|ZEB1_uc001ivu.3_Missense_Mutation_p.A906P|ZEB1_uc001ivv.3_Missense_Mutation_p.A885P|ZEB1_uc010qeh.1_Missense_Mutation_p.A838P|ZEB1_uc009xlp.2_Missense_Mutation_p.A889P	NM_030751	NP_110378	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1 isoform b	905	C2H2-type 5.		A -> T (in FECD6).		cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(3)|central_nervous_system(2)	5		Prostate(175;0.0156)																---	---	---	---	capture		Missense_Mutation	SNP	31812972	31812972	18211	10	G	C	C	46	46	ZEB1	C	3	3
NRP1	8829	broad.mit.edu	37	10	33481283	33481283	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:33481283C>A	uc001iwx.3	-	13	2511	c.1988G>T	c.(1987-1989)TGG>TTG	p.W663L	NRP1_uc001iwv.3_Missense_Mutation_p.W663L|NRP1_uc009xlz.2_Missense_Mutation_p.W656L|NRP1_uc001iww.3_Missense_Mutation_p.W475L|NRP1_uc001iwy.3_Missense_Mutation_p.W656L	NM_003873	NP_003864	O14786	NRP1_HUMAN	neuropilin 1 isoform a	663	Extracellular (Potential).|MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			central_nervous_system(2)|ovary(1)|skin(1)	4					Palifermin(DB00039)|Pegaptanib(DB04895)													---	---	---	---	capture		Missense_Mutation	SNP	33481283	33481283	11065	10	C	A	A	21	21	NRP1	A	2	2
RPP30	10556	broad.mit.edu	37	10	92660332	92660332	+	Missense_Mutation	SNP	A	G	G	rs139597628		TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:92660332A>G	uc009xtx.2	+	11	738	c.703A>G	c.(703-705)AGA>GGA	p.R235G	RPP30_uc001khd.2_Missense_Mutation_p.R235G	NM_006413	NP_006404	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit isoform b	235					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	92660332	92660332	14091	10	A	G	G	15	15	RPP30	G	4	4
LGI1	9211	broad.mit.edu	37	10	95557020	95557020	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95557020G>T	uc001kjc.3	+	8	1470	c.1134G>T	c.(1132-1134)AGG>AGT	p.R378S	LGI1_uc010qnv.1_Missense_Mutation_p.R330S|LGI1_uc001kjd.3_Intron|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_Intron	NM_005097	NP_005088	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1 precursor	378	EAR 4.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			ovary(2)|central_nervous_system(1)|skin(1)	4		Colorectal(252;0.124)																---	---	---	---	capture		Missense_Mutation	SNP	95557020	95557020	9077	10	G	T	T	43	43	LGI1	T	2	2
PLCE1	51196	broad.mit.edu	37	10	95931253	95931253	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:95931253G>T	uc001kjk.2	+	4	2443	c.1809G>T	c.(1807-1809)GAG>GAT	p.E603D	PLCE1_uc010qnx.1_Missense_Mutation_p.E603D|PLCE1_uc001kjm.2_Missense_Mutation_p.E295D	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1 isoform 1	603	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			ovary(2)|skin(1)	3		Colorectal(252;0.0458)																---	---	---	---	capture		Missense_Mutation	SNP	95931253	95931253	12460	10	G	T	T	35	35	PLCE1	T	2	2
NRAP	4892	broad.mit.edu	37	10	115350345	115350345	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115350345G>A	uc001laj.2	-	40	5112	c.4948C>T	c.(4948-4950)CAG>TAG	p.Q1650*	NRAP_uc009xyb.2_Nonsense_Mutation_p.Q403*|NRAP_uc001lak.2_Nonsense_Mutation_p.Q1615*|NRAP_uc001lal.3_Nonsense_Mutation_p.Q1650*	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein isoform S	1650	Nebulin 44.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1)	10		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)														---	---	---	---	capture		Nonsense_Mutation	SNP	115350345	115350345	11043	10	G	A	A	46	46	NRAP	A	5	2
TDRD1	56165	broad.mit.edu	37	10	115970710	115970710	+	Silent	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115970710T>C	uc001lbg.1	+	13	1797	c.1644T>C	c.(1642-1644)TGT>TGC	p.C548C	TDRD1_uc001lbf.2_Silent_p.C539C|TDRD1_uc001lbh.1_Silent_p.C539C|TDRD1_uc001lbi.1_Silent_p.C539C|TDRD1_uc010qsc.1_Silent_p.C209C|TDRD1_uc001lbj.2_Silent_p.C257C	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	548	Tudor 2.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding				0		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)														---	---	---	---	capture		Silent	SNP	115970710	115970710	16256	10	T	C	C	60	60	TDRD1	C	4	4
SEC23IP	11196	broad.mit.edu	37	10	121674242	121674242	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:121674242G>T	uc001leu.1	+	7	1385	c.1313G>T	c.(1312-1314)GGG>GTG	p.G438V	SEC23IP_uc010qtc.1_Missense_Mutation_p.G227V	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Sec23-interacting protein p125	438					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			ovary(3)	3		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)														---	---	---	---	capture		Missense_Mutation	SNP	121674242	121674242	14479	10	G	T	T	43	43	SEC23IP	T	2	2
CPXM2	119587	broad.mit.edu	37	10	125530526	125530526	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:125530526G>T	uc001lhk.1	-	8	1333	c.1008C>A	c.(1006-1008)CCC>CCA	p.P336P	CPXM2_uc001lhj.2_RNA	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	336					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)														---	---	---	---	capture		Silent	SNP	125530526	125530526	3977	10	G	T	T	47	47	CPXM2	T	2	2
GLRX3	10539	broad.mit.edu	37	10	131958268	131958268	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:131958268G>A	uc001lkm.1	+	3	233	c.211G>A	c.(211-213)GAA>AAA	p.E71K	GLRX3_uc001lkn.1_Missense_Mutation_p.E71K|GLRX3_uc001lko.2_RNA	NM_006541	NP_006532	O76003	GLRX3_HUMAN	glutaredoxin 3	71	Thioredoxin.				cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction	cell cortex	electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity				0		all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222)		OV - Ovarian serous cystadenocarcinoma(35;0.00218)														---	---	---	---	capture		Missense_Mutation	SNP	131958268	131958268	6729	10	G	A	A	45	45	GLRX3	A	2	2
BNIP3	664	broad.mit.edu	37	10	133786620	133786620	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:133786620G>T	uc001lkv.1	-	3	326	c.200C>A	c.(199-201)CCA>CAA	p.P67Q	BNIP3_uc001lku.1_5'Flank|BNIP3_uc010qut.1_Missense_Mutation_p.P67Q	NM_004052	NP_004043	Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kD-interacting protein 3	67					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			lung(1)|skin(1)	2		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)														---	---	---	---	capture		Missense_Mutation	SNP	133786620	133786620	1503	10	G	T	T	47	47	BNIP3	T	2	2
OR52E6	390078	broad.mit.edu	37	11	5862792	5862792	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5862792C>A	uc010qzq.1	-	1	336	c.336G>T	c.(334-336)ATG>ATT	p.M112I	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E,	112	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	5862792	5862792	11527	11	C	A	A	21	21	OR52E6	A	2	2
EHF	26298	broad.mit.edu	37	11	34680224	34680224	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:34680224A>G	uc001mvr.1	+	8	863	c.752A>G	c.(751-753)AAA>AGA	p.K251R	EHF_uc009yke.1_Missense_Mutation_p.K228R|EHF_uc009ykf.1_Missense_Mutation_p.K254R	NM_012153	NP_036285	Q9NZC4	EHF_HUMAN	ets homologous factor	251	ETS.				cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)															---	---	---	---	capture		Missense_Mutation	SNP	34680224	34680224	5170	11	A	G	G	1	1	EHF	G	4	4
MADD	8567	broad.mit.edu	37	11	47311834	47311834	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47311834C>A	uc001ner.1	+	19	3329	c.3138C>A	c.(3136-3138)ACC>ACA	p.T1046T	MADD_uc001neq.2_Silent_p.T1026T|MADD_uc001nev.1_Silent_p.T983T|MADD_uc001nes.1_Silent_p.T1003T|MADD_uc001net.1_Silent_p.T1046T|MADD_uc009yln.1_Silent_p.T983T|MADD_uc001neu.1_Silent_p.T983T|MADD_uc001nex.2_Silent_p.T1046T|MADD_uc001nez.2_Silent_p.T983T|MADD_uc001new.2_Silent_p.T1026T|MADD_uc009ylo.2_5'Flank	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain-containing	1046					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			ovary(5)|skin(4)|central_nervous_system(2)	11				Lung(87;0.182)														---	---	---	---	capture		Silent	SNP	47311834	47311834	9529	11	C	A	A	22	22	MADD	A	2	2
AGBL2	79841	broad.mit.edu	37	11	47726218	47726218	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:47726218C>T	uc001ngg.2	-	6	563	c.463G>A	c.(463-465)GAA>AAA	p.E155K	AGBL2_uc010rhq.1_Missense_Mutation_p.E117K|AGBL2_uc001ngh.1_Missense_Mutation_p.E99K	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	carboxypeptidase 2, cytosolic	155					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	47726218	47726218	378	11	C	T	T	29	29	AGBL2	T	2	2
OR4C46	119749	broad.mit.edu	37	11	51515441	51515441	+	Missense_Mutation	SNP	G	T	T	rs151059393	byFrequency	TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:51515441G>T	uc010ric.1	+	1	160	c.160G>T	c.(160-162)GGG>TGG	p.G54W		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	54	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	51515441	51515441	11458	11	G	T	T	43	43	OR4C46	T	2	2
OR4C46	119749	broad.mit.edu	37	11	51515752	51515752	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:51515752G>T	uc010ric.1	+	1	471	c.471G>T	c.(469-471)CAG>CAT	p.Q157H		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C,	157	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	51515752	51515752	11458	11	G	T	T	33	33	OR4C46	T	2	2
OR5M11	219487	broad.mit.edu	37	11	56310527	56310527	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:56310527C>A	uc010rjl.1	-	1	207	c.207G>T	c.(205-207)GTG>GTT	p.V69V		NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M,	69	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	capture		Silent	SNP	56310527	56310527	11584	11	C	A	A	21	21	OR5M11	A	2	2
SYT7	9066	broad.mit.edu	37	11	61291414	61291414	+	Splice_Site	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61291414C>A	uc001nrv.2	-	7	799	c.793_splice	c.e7-1	p.G265_splice	SYT7_uc009ynr.2_Splice_Site_p.G340_splice	NM_004200	NP_004191			synaptotagmin VII							cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			ovary(3)|pancreas(1)	4																		---	---	---	---	capture		Splice_Site	SNP	61291414	61291414	16000	11	C	A	A	24	24	SYT7	A	5	2
SCGB2A1	4246	broad.mit.edu	37	11	61976227	61976227	+	Missense_Mutation	SNP	G	A	A	rs143379489	byFrequency	TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:61976227G>A	uc001nta.2	+	1	88	c.24G>A	c.(22-24)ATG>ATA	p.M8I		NM_002407	NP_002398	O75556	SG2A1_HUMAN	secretoglobin, family 2A, member 1 precursor	8						extracellular region	androgen binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	61976227	61976227	14380	11	G	A	A	46	46	SCGB2A1	A	2	2
AHNAK	79026	broad.mit.edu	37	11	62293723	62293723	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62293723C>A	uc001ntl.2	-	5	8466	c.8166G>T	c.(8164-8166)AAG>AAT	p.K2722N	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	AHNAK nucleoprotein isoform 1	2722					nervous system development	nucleus	protein binding			ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1)	19		Melanoma(852;0.155)																---	---	---	---	capture		Missense_Mutation	SNP	62293723	62293723	417	11	C	A	A	24	24	AHNAK	A	2	2
METTL12	751071	broad.mit.edu	37	11	62434244	62434244	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:62434244G>T	uc001nug.1	+	3	703	c.444G>T	c.(442-444)CTG>CTT	p.L148L	C11orf48_uc001nue.2_Intron|C11orf48_uc001nuf.2_Intron|METTL12_uc001nuh.2_3'UTR|METTL12_uc010rmc.1_RNA	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	methyltransferase like 12 precursor	148						mitochondrion	methyltransferase activity				0																		---	---	---	---	capture		Silent	SNP	62434244	62434244	9886	11	G	T	T	47	47	METTL12	T	2	2
PYGM	5837	broad.mit.edu	37	11	64518818	64518818	+	Missense_Mutation	SNP	G	C	C	rs114073621	by1000genomes	TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64518818G>C	uc001oax.3	-	16	2765	c.1948C>G	c.(1948-1950)CGA>GGA	p.R650G	PYGM_uc001oay.3_Missense_Mutation_p.R562G	NM_005609	NP_005600	P11217	PYGM_HUMAN	muscle glycogen phosphorylase isoform 1	650					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			ovary(2)	2					Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	64518818	64518818	13320	11	G	C	C	39	39	PYGM	C	3	3
MEN1	4221	broad.mit.edu	37	11	64572546	64572546	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:64572546G>T	uc001obj.2	-	9	1398	c.1325C>A	c.(1324-1326)GCC>GAC	p.A442D	MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Missense_Mutation_p.A442D|MEN1_uc001obl.2_Missense_Mutation_p.A402D|MEN1_uc001obm.2_Missense_Mutation_p.A437D|MEN1_uc001obn.2_Missense_Mutation_p.A442D|MEN1_uc001obo.2_Missense_Mutation_p.A442D|MEN1_uc001obp.2_Missense_Mutation_p.A437D|MEN1_uc001obq.2_Missense_Mutation_p.A442D|MEN1_uc001obr.2_Missense_Mutation_p.A442D	NM_130800	NP_570712	O00255	MEN1_HUMAN	menin isoform 1	442					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.Q442*(1)		parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238								D|Mis|N|F|S		parathyroid tumors|Pancreatic neuroendocrine tumors	parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid			Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1				---	---	---	---	capture		Missense_Mutation	SNP	64572546	64572546	9861	11	G	T	T	42	42	MEN1	T	2	2
SYT12	91683	broad.mit.edu	37	11	66816119	66816119	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:66816119A>G	uc009yrl.2	+	8	1387	c.1157A>G	c.(1156-1158)CAT>CGT	p.H386R	SYT12_uc001oju.2_Missense_Mutation_p.H386R	NM_177963	NP_808878	Q8IV01	SYT12_HUMAN	synaptotagmin XII	386	C2 2.|Cytoplasmic (Potential).					cell junction|integral to membrane|synaptic vesicle membrane				ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	66816119	66816119	15989	11	A	G	G	8	8	SYT12	G	4	4
ANKRD13D	338692	broad.mit.edu	37	11	67067552	67067552	+	Missense_Mutation	SNP	G	T	T	rs78983123	by1000genomes	TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67067552G>T	uc001okc.1	+	11	1281	c.770G>T	c.(769-771)CGG>CTG	p.R257L	ANKRD13D_uc001okd.1_Missense_Mutation_p.R344L|ANKRD13D_uc001oke.1_Missense_Mutation_p.R257L|ANKRD13D_uc001okg.1_Missense_Mutation_p.R40L|ANKRD13D_uc001okh.1_Missense_Mutation_p.R40L|ANKRD13D_uc001oki.1_5'Flank	NM_207354	NP_997237	Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	257										ovary(1)	1			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)															---	---	---	---	capture		Missense_Mutation	SNP	67067552	67067552	647	11	G	T	T	39	39	ANKRD13D	T	1	1
NDUFV1	4723	broad.mit.edu	37	11	67379866	67379866	+	Silent	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67379866G>A	uc001omj.2	+	10	1485	c.1332G>A	c.(1330-1332)CCG>CCA	p.P444P	NDUFV1_uc010rpv.1_Silent_p.P343P|NDUFV1_uc001oml.2_Silent_p.P437P|NDUFV1_uc001omk.3_Silent_p.P435P|NDUFV1_uc010rpw.1_Silent_p.P153P	NM_007103	NP_009034	P49821	NDUV1_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 1	444					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			skin(1)	1					NADH(DB00157)													---	---	---	---	capture		Silent	SNP	67379866	67379866	10698	11	G	A	A	39	39	NDUFV1	A	1	1
IGHMBP2	3508	broad.mit.edu	37	11	68703849	68703849	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68703849G>T	uc001ook.1	+	13	2003	c.1901G>T	c.(1900-1902)GGG>GTG	p.G634V	IGHMBP2_uc001ool.1_Missense_Mutation_p.G258V|IGHMBP2_uc001oom.1_Missense_Mutation_p.G212V	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	634					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)															---	---	---	---	capture		Missense_Mutation	SNP	68703849	68703849	7892	11	G	T	T	43	43	IGHMBP2	T	2	2
TPCN2	219931	broad.mit.edu	37	11	68839485	68839485	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68839485C>A	uc001oos.2	+	11	1171	c.1055C>A	c.(1054-1056)CCT>CAT	p.P352H	TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Missense_Mutation_p.P267H|TPCN2_uc010rqg.1_Missense_Mutation_p.P352H|TPCN2_uc001oot.2_5'Flank	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	352	Cytoplasmic (Potential).				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)															---	---	---	---	capture		Missense_Mutation	SNP	68839485	68839485	16940	11	C	A	A	24	24	TPCN2	A	2	2
TPCN2	219931	broad.mit.edu	37	11	68853170	68853170	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68853170G>T	uc001oos.2	+	21	1986	c.1870G>T	c.(1870-1872)GGG>TGG	p.G624W	TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_RNA	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	624	Extracellular (Potential).				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity				0			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)															---	---	---	---	capture		Missense_Mutation	SNP	68853170	68853170	16940	11	G	T	T	47	47	TPCN2	T	2	2
PPFIA1	8500	broad.mit.edu	37	11	70170563	70170563	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70170563G>T	uc001opo.2	+	3	518	c.320G>T	c.(319-321)AGG>ATG	p.R107M	PPFIA1_uc001opn.1_Missense_Mutation_p.R107M|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_5'Flank	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	107	Potential.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)															---	---	---	---	capture		Missense_Mutation	SNP	70170563	70170563	12739	11	G	T	T	35	35	PPFIA1	T	2	2
PPFIA1	8500	broad.mit.edu	37	11	70200479	70200479	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70200479C>A	uc001opo.2	+	17	2434	c.2236C>A	c.(2236-2238)CCG>ACG	p.P746T	PPFIA1_uc001opn.1_Missense_Mutation_p.P746T|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	746					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)															---	---	---	---	capture		Missense_Mutation	SNP	70200479	70200479	12739	11	C	A	A	22	22	PPFIA1	A	2	2
PPFIA1	8500	broad.mit.edu	37	11	70202323	70202323	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70202323G>T	uc001opo.2	+	19	2743	c.2545G>T	c.(2545-2547)GGG>TGG	p.G849W	PPFIA1_uc001opn.1_Missense_Mutation_p.G849W|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	PTPRF interacting protein alpha 1 isoform b	849	Potential.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)															---	---	---	---	capture		Missense_Mutation	SNP	70202323	70202323	12739	11	G	T	T	43	43	PPFIA1	T	2	2
PPFIA1	8500	broad.mit.edu	37	11	70224135	70224135	+	Splice_Site	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70224135G>T	uc001opo.2	+	26	3583	c.3385_splice	c.e26-1	p.D1129_splice	PPFIA1_uc001opn.1_Splice_Site_p.D1129_splice|PPFIA1_uc001opp.2_Splice_Site|PPFIA1_uc001opr.2_Splice_Site_p.D268_splice|PPFIA1_uc001ops.2_Splice_Site_p.D168_splice|uc001opt.1_Intron	NM_003626	NP_003617			PTPRF interacting protein alpha 1 isoform b						cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			lung(2)|ovary(1)	3			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)															---	---	---	---	capture		Splice_Site	SNP	70224135	70224135	12739	11	G	T	T	35	35	PPFIA1	T	5	2
CTTN	2017	broad.mit.edu	37	11	70279806	70279806	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:70279806C>A	uc001opv.3	+	17	1704	c.1498C>A	c.(1498-1500)CTG>ATG	p.L500M	CTTN_uc001opu.2_Missense_Mutation_p.L463M|CTTN_uc001opw.3_Missense_Mutation_p.L463M|CTTN_uc010rqm.1_Missense_Mutation_p.L184M|CTTN_uc001opx.2_Missense_Mutation_p.L184M	NM_005231	NP_005222	Q14247	SRC8_HUMAN	cortactin isoform a	500	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)														---	---	---	---	capture		Missense_Mutation	SNP	70279806	70279806	4203	11	C	A	A	24	24	CTTN	A	2	2
FCHSD2	9873	broad.mit.edu	37	11	72695195	72695195	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:72695195G>T	uc009ytl.2	-	8	864	c.643C>A	c.(643-645)CTA>ATA	p.L215I	FCHSD2_uc010rrg.1_Missense_Mutation_p.L55I|FCHSD2_uc001oth.3_Missense_Mutation_p.L159I|FCHSD2_uc001oti.2_Missense_Mutation_p.L174I	NM_014824	NP_055639	O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	215							protein binding			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)															---	---	---	---	capture		Missense_Mutation	SNP	72695195	72695195	6027	11	G	T	T	35	35	FCHSD2	T	2	2
RNF169	254225	broad.mit.edu	37	11	74547025	74547025	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74547025G>T	uc001ovl.3	+	6	1390	c.1377G>T	c.(1375-1377)ATG>ATT	p.M459I	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	ring finger protein 169	459							zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	74547025	74547025	13937	11	G	T	T	47	47	RNF169	T	2	2
PICALM	8301	broad.mit.edu	37	11	85701343	85701343	+	Nonsense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:85701343G>C	uc001pbm.2	-	13	1644	c.1358C>G	c.(1357-1359)TCA>TGA	p.S453*	PICALM_uc001pbl.2_Intron|PICALM_uc001pbn.2_Nonsense_Mutation_p.S446*|PICALM_uc010rtl.1_Intron|PICALM_uc010rtk.1_Intron|PICALM_uc001pbo.1_Nonsense_Mutation_p.S85*	NM_007166	NP_009097	Q13492	PICAL_HUMAN	phosphatidylinositol-binding clathrin assembly	453					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			urinary_tract(1)|ovary(1)	2		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)						T	MLLT10|MLL	TALL|AML|								---	---	---	---	capture		Nonsense_Mutation	SNP	85701343	85701343	12304	11	G	C	C	45	45	PICALM	C	5	3
EED	8726	broad.mit.edu	37	11	85977186	85977186	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:85977186G>T	uc001pbp.2	+	8	1245	c.788G>T	c.(787-789)TGG>TTG	p.W263L	EED_uc010rtm.1_Missense_Mutation_p.W263L|EED_uc001pbq.2_Missense_Mutation_p.W263L|EED_uc001pbr.2_Missense_Mutation_p.W263L|EED_uc001pbs.2_Intron|EED_uc010rtn.1_RNA	NM_003797	NP_003788	O75530	EED_HUMAN	embryonic ectoderm development isoform a	263	Interaction with EZH2 (By similarity).|WD 4.|Required for interaction with the matrix protein MA of HIV-1.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding			skin(1)|pancreas(1)	2		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)																---	---	---	---	capture		Missense_Mutation	SNP	85977186	85977186	5109	11	G	T	T	47	47	EED	T	2	2
TRIM49	57093	broad.mit.edu	37	11	89531505	89531505	+	Silent	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89531505C>T	uc001pdb.2	-	8	1481	c.1152G>A	c.(1150-1152)AAG>AAA	p.K384K		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	ring finger protein 18	384	B30.2/SPRY.					intracellular	zinc ion binding				0		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)																---	---	---	---	capture		Silent	SNP	89531505	89531505	17069	11	C	T	T	32	32	TRIM49	T	2	2
GRIA4	2893	broad.mit.edu	37	11	105732836	105732836	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:105732836G>T	uc001pix.2	+	5	1020	c.574G>T	c.(574-576)GTC>TTC	p.V192F	GRIA4_uc001piu.1_Missense_Mutation_p.V192F|GRIA4_uc001piw.2_Missense_Mutation_p.V192F|GRIA4_uc001piv.2_Missense_Mutation_p.V192F|GRIA4_uc009yxk.1_Missense_Mutation_p.V192F	NM_000829	NP_000820	P48058	GRIA4_HUMAN	glutamate receptor, ionotrophic, AMPA 4 isoform	192	Extracellular (Potential).				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			ovary(3)|skin(3)|lung(1)|central_nervous_system(1)	8		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)													---	---	---	---	capture		Missense_Mutation	SNP	105732836	105732836	7048	11	G	T	T	48	48	GRIA4	T	2	2
EXPH5	23086	broad.mit.edu	37	11	108383320	108383320	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108383320C>G	uc001pkk.2	-	6	3025	c.2914G>C	c.(2914-2916)GGA>CGA	p.G972R	EXPH5_uc010rvy.1_Missense_Mutation_p.G784R|EXPH5_uc010rvz.1_Missense_Mutation_p.G816R|EXPH5_uc010rwa.1_Missense_Mutation_p.G896R	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5 isoform a	972					intracellular protein transport		Rab GTPase binding			skin(3)|ovary(2)	5		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)														---	---	---	---	capture		Missense_Mutation	SNP	108383320	108383320	5516	11	C	G	G	24	24	EXPH5	G	3	3
POU2AF1	5450	broad.mit.edu	37	11	111228206	111228206	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:111228206C>G	uc001plg.3	-	4	675	c.420G>C	c.(418-420)TTG>TTC	p.L140F		NM_006235	NP_006226	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	140					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			kidney(1)	1		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)				T	BCL6	NHL								---	---	---	---	capture		Missense_Mutation	SNP	111228206	111228206	12700	11	C	G	G	29	29	POU2AF1	G	3	3
BACE1	23621	broad.mit.edu	37	11	117161699	117161699	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:117161699G>T	uc001pqz.2	-	7	1470	c.1009C>A	c.(1009-1011)CCT>ACT	p.P337T	BACE1_uc001pqw.2_Missense_Mutation_p.P312T|BACE1_uc001pqx.2_Missense_Mutation_p.P268T|BACE1_uc001pqy.2_Missense_Mutation_p.P293T|BACE1_uc010rxg.1_Missense_Mutation_p.P212T|BACE1_uc010rxh.1_Missense_Mutation_p.P237T|BACE1_uc009yzo.1_Intron|uc010rxi.1_5'Flank	NM_012104	NP_036236	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1 isoform A	337	Extracellular (Potential).				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			ovary(1)	1	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)														---	---	---	---	capture		Missense_Mutation	SNP	117161699	117161699	1302	11	G	T	T	43	43	BACE1	T	2	2
MLL	4297	broad.mit.edu	37	11	118344238	118344238	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118344238C>A	uc001pta.2	+	3	2387	c.2364C>A	c.(2362-2364)GCC>GCA	p.A788A	MLL_uc001ptb.2_Silent_p.A788A|MLL_uc001psz.1_Silent_p.A821A|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	myeloid/lymphoid or mixed-lineage leukemia	788					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		Silent	SNP	118344238	118344238	10010	11	C	A	A	21	21	MLL	A	2	2
PHLDB1	23187	broad.mit.edu	37	11	118485307	118485307	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:118485307G>T	uc001ptr.1	+	4	447	c.94G>T	c.(94-96)GGG>TGG	p.G32W	PHLDB1_uc010ryh.1_Missense_Mutation_p.G32W|PHLDB1_uc001pts.2_Missense_Mutation_p.G32W|PHLDB1_uc001ptt.2_Missense_Mutation_p.G32W|PHLDB1_uc001ptu.1_RNA	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B,	32											0	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)														---	---	---	---	capture		Missense_Mutation	SNP	118485307	118485307	12275	11	G	T	T	35	35	PHLDB1	T	2	2
ASAM	79827	broad.mit.edu	37	11	122944224	122944224	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:122944224G>T	uc001pyt.2	-	7	1439	c.1080C>A	c.(1078-1080)CCC>CCA	p.P360P		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	adipocyte-specific adhesion molecule precursor	360	Cytoplasmic (Potential).					integral to membrane|tight junction					0		Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)														---	---	---	---	capture		Silent	SNP	122944224	122944224	1027	11	G	T	T	47	47	ASAM	T	2	2
OR10G8	219869	broad.mit.edu	37	11	123900835	123900835	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123900835G>C	uc001pzp.1	+	1	506	c.506G>C	c.(505-507)GGA>GCA	p.G169A		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	169	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)														---	---	---	---	capture		Missense_Mutation	SNP	123900835	123900835	11309	11	G	C	C	41	41	OR10G8	C	3	3
IGSF9B	22997	broad.mit.edu	37	11	133799611	133799611	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:133799611C>A	uc001qgx.3	-	12	1817	c.1586G>T	c.(1585-1587)TGG>TTG	p.W529L	IGSF9B_uc001qgy.1_Missense_Mutation_p.W371L	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	529	Extracellular (Potential).|Fibronectin type-III 1.					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		Missense_Mutation	SNP	133799611	133799611	7907	11	C	A	A	21	21	IGSF9B	A	2	2
ACAD8	27034	broad.mit.edu	37	11	134130962	134130962	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134130962C>T	uc001qhk.2	+	7	791	c.730C>T	c.(730-732)CGA>TGA	p.R244*	ACAD8_uc010sco.1_3'UTR|ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Nonsense_Mutation_p.R167*|ACAD8_uc001qhl.2_Nonsense_Mutation_p.R117*|ACAD8_uc010scr.1_3'UTR|ACAD8_uc009zde.1_3'UTR	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	acyl-Coenzyme A dehydrogenase family, member 8	244					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding				0	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)														---	---	---	---	capture		Nonsense_Mutation	SNP	134130962	134130962	111	11	C	T	T	19	19	ACAD8	T	5	1
GRIN2B	2904	broad.mit.edu	37	12	13768468	13768468	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13768468C>A	uc001rbt.2	-	6	1638	c.1459G>T	c.(1459-1461)GGG>TGG	p.G487W		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	N-methyl-D-aspartate receptor subunit 2B	487	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---	capture		Missense_Mutation	SNP	13768468	13768468	7059	12	C	A	A	21	21	GRIN2B	A	2	2
ABCC9	10060	broad.mit.edu	37	12	22046974	22046974	+	Silent	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22046974G>C	uc001rfi.1	-	12	1814	c.1794C>G	c.(1792-1794)GCC>GCG	p.A598A	ABCC9_uc001rfh.2_Silent_p.A598A|ABCC9_uc001rfj.1_Silent_p.A598A	NM_005691	NP_005682	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C, member 9	598	Cytoplasmic (Potential).				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			ovary(4)|skin(2)	6					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---	capture		Silent	SNP	22046974	22046974	60	12	G	C	C	47	47	ABCC9	C	3	3
KIAA0528	9847	broad.mit.edu	37	12	22678604	22678604	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22678604C>G	uc001rfq.2	-	5	613	c.385G>C	c.(385-387)GAC>CAC	p.D129H	KIAA0528_uc010sir.1_5'UTR|KIAA0528_uc010sis.1_Missense_Mutation_p.D129H|KIAA0528_uc010sit.1_Missense_Mutation_p.D129H|KIAA0528_uc010siu.1_Missense_Mutation_p.D129H|KIAA0528_uc001rfr.2_Missense_Mutation_p.D129H|KIAA0528_uc009ziy.1_Missense_Mutation_p.D129H	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	129							protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	22678604	22678604	8489	12	C	G	G	32	32	KIAA0528	G	3	3
ITPR2	3709	broad.mit.edu	37	12	26709212	26709212	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:26709212G>T	uc001rhg.2	-	36	5335	c.4918C>A	c.(4918-4920)CCT>ACT	p.P1640T		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	inositol 1,4,5-triphosphate receptor, type 2	1640	Cytoplasmic (Potential).				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14	Colorectal(261;0.0847)																	---	---	---	---	capture		Missense_Mutation	SNP	26709212	26709212	8225	12	G	T	T	43	43	ITPR2	T	2	2
YAF2	10138	broad.mit.edu	37	12	42554480	42554480	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:42554480C>T	uc001rmv.2	-	4	522	c.454G>A	c.(454-456)GGC>AGC	p.G152S	YAF2_uc001rmw.2_Missense_Mutation_p.G176S|YAF2_uc010sko.1_Missense_Mutation_p.G143S|YAF2_uc010skp.1_Missense_Mutation_p.G110S	NM_005748	NP_005739	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	152					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding				0	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)														---	---	---	---	capture		Missense_Mutation	SNP	42554480	42554480	18048	12	C	T	T	23	23	YAF2	T	1	1
LMBR1L	55716	broad.mit.edu	37	12	49495909	49495909	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49495909C>A	uc001rth.3	-	11	1266	c.924G>T	c.(922-924)GTG>GTT	p.V308V	LMBR1L_uc001rtg.3_Silent_p.V303V|LMBR1L_uc001rti.3_Silent_p.V308V|LMBR1L_uc001rtj.1_Silent_p.V152V|LMBR1L_uc009zld.1_Silent_p.V181V	NM_018113	NP_060583	Q6UX01	LMBRL_HUMAN	lipocalin-interacting membrane receptor	308	Helical; (Potential).				endocytosis	integral to membrane|plasma membrane	receptor activity			pancreas(1)	1																		---	---	---	---	capture		Silent	SNP	49495909	49495909	9170	12	C	A	A	25	25	LMBR1L	A	2	2
BIN2	51411	broad.mit.edu	37	12	51695883	51695883	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:51695883C>A	uc001ryg.2	-	5	381	c.329G>T	c.(328-330)TGG>TTG	p.W110L	BIN2_uc009zlz.2_Intron|BIN2_uc001ryh.2_5'UTR|BIN2_uc010sng.1_Missense_Mutation_p.W84L	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	bridging integrator 2	110	BAR.					cytoplasm	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	51695883	51695883	1458	12	C	A	A	21	21	BIN2	A	2	2
TENC1	23371	broad.mit.edu	37	12	53455039	53455039	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53455039C>G	uc001sbp.2	+	20	3484	c.3349C>G	c.(3349-3351)CAA>GAA	p.Q1117E	TENC1_uc001sbl.2_Missense_Mutation_p.Q993E|TENC1_uc001sbn.2_Missense_Mutation_p.Q1127E|TENC1_uc001sbq.2_Missense_Mutation_p.Q515E|TENC1_uc001sbr.2_RNA|TENC1_uc009zmr.2_Missense_Mutation_p.Q612E|TENC1_uc001sbs.2_5'Flank	NM_170754	NP_736610	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase	1117	Pro-rich.				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	53455039	53455039	16285	12	C	G	G	21	21	TENC1	G	3	3
MAP3K12	7786	broad.mit.edu	37	12	53881050	53881050	+	Silent	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:53881050C>T	uc001sdm.1	-	2	224	c.126G>A	c.(124-126)CTG>CTA	p.L42L	MAP3K12_uc001sdn.1_Silent_p.L42L	NM_006301	NP_006292	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase	42					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			lung(2)|ovary(1)|breast(1)|skin(1)	5																		---	---	---	---	capture		Silent	SNP	53881050	53881050	9629	12	C	T	T	29	29	MAP3K12	T	2	2
IKZF4	64375	broad.mit.edu	37	12	56429083	56429083	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:56429083C>A	uc001sjb.1	+	9	1885	c.1726C>A	c.(1726-1728)CAC>AAC	p.H576N	IKZF4_uc010sqa.1_Missense_Mutation_p.H529N|IKZF4_uc001sjc.1_Missense_Mutation_p.H576N|IKZF4_uc001sjd.1_Missense_Mutation_p.H474N|IKZF4_uc009zoi.1_Missense_Mutation_p.H531N|IKZF4_uc001sje.1_Missense_Mutation_p.H535N	NM_022465	NP_071910	Q9H2S9	IKZF4_HUMAN	zinc finger protein, subfamily 1A, 4	576	C2H2-type 6.				negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)	1			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)															---	---	---	---	capture		Missense_Mutation	SNP	56429083	56429083	7918	12	C	A	A	21	21	IKZF4	A	2	2
DPY19L2	283417	broad.mit.edu	37	12	63974449	63974449	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:63974449G>T	uc001srp.1	-	19	2074	c.1893C>A	c.(1891-1893)ACC>ACA	p.T631T	DPY19L2_uc010sso.1_Silent_p.T78T	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	dpy-19-like 2	631					multicellular organismal development|spermatid development	integral to membrane				central_nervous_system(1)|skin(1)	2			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)														---	---	---	---	capture		Silent	SNP	63974449	63974449	4925	12	G	T	T	47	47	DPY19L2	T	2	2
DYRK2	8445	broad.mit.edu	37	12	68051497	68051497	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:68051497G>T	uc001str.3	+	3	1212	c.810G>T	c.(808-810)CTG>CTT	p.L270L	DYRK2_uc001sts.3_Silent_p.L197L	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	270	Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(2)|breast(1)|central_nervous_system(1)	4			Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(7;0.000573)														---	---	---	---	capture		Silent	SNP	68051497	68051497	5042	12	G	T	T	47	47	DYRK2	T	2	2
IL26	55801	broad.mit.edu	37	12	68619509	68619509	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:68619509C>A	uc001stx.1	-	1	63	c.28G>T	c.(28-30)GGG>TGG	p.G10W		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	interleukin 26 precursor	10					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity				0			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)														---	---	---	---	capture		Missense_Mutation	SNP	68619509	68619509	7980	12	C	A	A	21	21	IL26	A	2	2
NAV3	89795	broad.mit.edu	37	12	78511809	78511809	+	Silent	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:78511809G>A	uc001syp.2	+	14	2945	c.2772G>A	c.(2770-2772)CTG>CTA	p.L924L	NAV3_uc001syo.2_Silent_p.L924L|NAV3_uc010sub.1_Silent_p.L424L|NAV3_uc009zsf.2_5'UTR	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	neuron navigator 3	924				L -> V (in Ref. 3; AAM73757).		nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17															HNSCC(70;0.22)			---	---	---	---	capture		Silent	SNP	78511809	78511809	10581	12	G	A	A	45	45	NAV3	A	2	2
CEP290	80184	broad.mit.edu	37	12	88484529	88484529	+	Silent	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:88484529G>C	uc001tar.2	-	30	3893	c.3549C>G	c.(3547-3549)CTC>CTG	p.L1183L	CEP290_uc001taq.2_Silent_p.L243L	NM_025114	NP_079390	O15078	CE290_HUMAN	centrosomal protein 290kDa	1183	Potential.				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			ovary(5)|breast(1)|pancreas(1)	7																		---	---	---	---	capture		Silent	SNP	88484529	88484529	3386	12	G	C	C	45	45	CEP290	C	3	3
NUP37	79023	broad.mit.edu	37	12	102512209	102512209	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:102512209C>A	uc001tjc.2	-	1	153	c.88G>T	c.(88-90)GGG>TGG	p.G30W	NUP37_uc009zub.1_Missense_Mutation_p.G30W|C12orf48_uc001tjd.2_5'Flank|C12orf48_uc001tje.2_5'Flank|C12orf48_uc001tjg.2_5'Flank|C12orf48_uc010swa.1_5'Flank|C12orf48_uc001tjf.2_5'Flank|C12orf48_uc001tjh.2_5'Flank|C12orf48_uc010swb.1_5'Flank|C12orf48_uc001tji.2_5'Flank	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	30					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	102512209	102512209	11169	12	C	A	A	21	21	NUP37	A	2	2
HSP90B1	7184	broad.mit.edu	37	12	104337582	104337582	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104337582G>T	uc001tkb.1	+	14	2062	c.1957G>T	c.(1957-1959)GGA>TGA	p.G653*	HSP90B1_uc010swg.1_Nonsense_Mutation_p.G318*|HSP90B1_uc009zui.1_Intron	NM_003299	NP_003290	P14625	ENPL_HUMAN	heat shock protein 90kDa beta, member 1	653					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			ovary(2)|skin(1)	3					Rifabutin(DB00615)													---	---	---	---	capture		Nonsense_Mutation	SNP	104337582	104337582	7702	12	G	T	T	39	39	HSP90B1	T	5	1
GIT2	9815	broad.mit.edu	37	12	110376235	110376235	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110376235G>T	uc001tps.2	-	18	2118	c.1953C>A	c.(1951-1953)ACC>ACA	p.T651T	TCHP_uc001tpo.1_Intron|GIT2_uc001tpr.2_Silent_p.T191T|GIT2_uc001tpq.2_Silent_p.T621T|GIT2_uc001tpv.2_Silent_p.T573T|GIT2_uc001tpu.2_Silent_p.T571T|GIT2_uc001tpt.2_Silent_p.T523T|GIT2_uc010sxu.1_Silent_p.T559T	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	651					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	110376235	110376235	6665	12	G	T	T	47	47	GIT2	T	2	2
TPCN1	53373	broad.mit.edu	37	12	113704132	113704132	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113704132G>T	uc001tuw.2	+	4	682	c.385G>T	c.(385-387)GCC>TCC	p.A129S	TPCN1_uc001tux.2_Missense_Mutation_p.A201S|TPCN1_uc010syt.1_Missense_Mutation_p.A61S	NM_017901	NP_060371	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1 isoform 2	129	Helical; Name=S1 of repeat I; (Potential).					endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			skin(2)|ovary(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	113704132	113704132	16939	12	G	T	T	38	38	TPCN1	T	1	1
VSIG10	54621	broad.mit.edu	37	12	118517392	118517392	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118517392G>T	uc001tws.2	-	4	1018	c.684C>A	c.(682-684)CCC>CCA	p.P228P		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	228	Ig-like C2-type 3.|Extracellular (Potential).					integral to membrane					0																		---	---	---	---	capture		Silent	SNP	118517392	118517392	17790	12	G	T	T	43	43	VSIG10	T	2	2
CLIP1	6249	broad.mit.edu	37	12	122826132	122826132	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:122826132C>A	uc001ucg.1	-	10	1725	c.1619G>T	c.(1618-1620)GGG>GTG	p.G540V	CLIP1_uc001uch.1_Missense_Mutation_p.G529V|CLIP1_uc001uci.1_Missense_Mutation_p.G494V|CLIP1_uc001ucj.1_Missense_Mutation_p.G230V|CLIP1_uc009zxo.1_Missense_Mutation_p.G96V	NM_002956	NP_002947	P30622	CLIP1_HUMAN	restin isoform a	540	Potential.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			ovary(2)|breast(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)														---	---	---	---	capture		Missense_Mutation	SNP	122826132	122826132	3670	12	C	A	A	22	22	CLIP1	A	2	2
DNAH10	196385	broad.mit.edu	37	12	124267811	124267811	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124267811G>T	uc001uft.3	+	7	841	c.816G>T	c.(814-816)CAG>CAT	p.Q272H		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	272	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(3)|skin(2)|central_nervous_system(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)														---	---	---	---	capture		Missense_Mutation	SNP	124267811	124267811	4780	12	G	T	T	35	35	DNAH10	T	2	2
NCOR2	9612	broad.mit.edu	37	12	124840062	124840062	+	Silent	SNP	T	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:124840062T>A	uc010tba.1	-	24	3438	c.3321A>T	c.(3319-3321)CCA>CCT	p.P1107P	NCOR2_uc010tay.1_Silent_p.P1106P|NCOR2_uc010taz.1_Silent_p.P1090P|NCOR2_uc010tbb.1_Silent_p.P1099P|NCOR2_uc010tbc.1_Silent_p.P1089P|NCOR2_uc001ugj.1_Silent_p.P1107P	NM_001077261	NP_001070729	Q9Y618	NCOR2_HUMAN	nuclear receptor co-repressor 2 isoform 2	1107					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		Silent	SNP	124840062	124840062	10635	12	T	A	A	59	59	NCOR2	A	4	4
SMAD9	4093	broad.mit.edu	37	13	37422914	37422914	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:37422914G>T	uc001uvw.2	-	7	1646	c.1303C>A	c.(1303-1305)CCC>ACC	p.P435T	SMAD9_uc001uvx.2_Missense_Mutation_p.P398T|SMAD9_uc010tep.1_Missense_Mutation_p.P228T	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	SMAD family member 9 isoform a	435	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity				0		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)														---	---	---	---	capture		Missense_Mutation	SNP	37422914	37422914	15262	13	G	T	T	43	43	SMAD9	T	2	2
FREM2	341640	broad.mit.edu	37	13	39265581	39265581	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39265581G>C	uc001uwv.2	+	1	4409	c.4100G>C	c.(4099-4101)GGC>GCC	p.G1367A		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	FRAS1-related extracellular matrix protein 2	1367	Extracellular (Potential).|CSPG 9.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)														---	---	---	---	capture		Missense_Mutation	SNP	39265581	39265581	6292	13	G	C	C	42	42	FREM2	C	3	3
MYCBP2	23077	broad.mit.edu	37	13	77669539	77669539	+	Missense_Mutation	SNP	C	A	A	rs141165449		TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77669539C>A	uc001vkf.2	-	59	10130	c.10039G>T	c.(10039-10041)GAT>TAT	p.D3347Y	MYCBP2_uc010aev.2_Missense_Mutation_p.D2751Y|MYCBP2_uc001vke.2_5'Flank	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	3347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)														---	---	---	---	capture		Missense_Mutation	SNP	77669539	77669539	10413	13	C	A	A	30	30	MYCBP2	A	2	2
SLITRK5	26050	broad.mit.edu	37	13	88328235	88328235	+	Missense_Mutation	SNP	C	A	A	rs143891134	by1000genomes	TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:88328235C>A	uc001vln.2	+	2	811	c.592C>A	c.(592-594)CGT>AGT	p.R198S	SLITRK5_uc010tic.1_Intron	NM_015567	NP_056382	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5 precursor	198	Extracellular (Potential).|LRR 5.					integral to membrane				ovary(2)|pancreas(2)|central_nervous_system(1)	5	all_neural(89;0.101)|Medulloblastoma(90;0.163)																	---	---	---	---	capture		Missense_Mutation	SNP	88328235	88328235	15244	13	C	A	A	23	23	SLITRK5	A	1	1
COL4A1	1282	broad.mit.edu	37	13	110857849	110857849	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110857849C>A	uc001vqw.3	-	16	1017	c.895G>T	c.(895-897)GGG>TGG	p.G299W	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	299	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)															---	---	---	---	capture		Missense_Mutation	SNP	110857849	110857849	3827	13	C	A	A	24	24	COL4A1	A	2	2
ATP11A	23250	broad.mit.edu	37	13	113479842	113479842	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113479842G>T	uc001vsi.3	+	11	1059	c.971G>T	c.(970-972)CGG>CTG	p.R324L	ATP11A_uc001vsj.3_Missense_Mutation_p.R324L|ATP11A_uc001vsm.1_Missense_Mutation_p.R200L	NM_015205	NP_056020	P98196	AT11A_HUMAN	ATPase, class VI, type 11A isoform a	324	Extracellular (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			large_intestine(2)|ovary(2)	4	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)																---	---	---	---	capture		Missense_Mutation	SNP	113479842	113479842	1138	13	G	T	T	39	39	ATP11A	T	1	1
PCID2	55795	broad.mit.edu	37	13	113832545	113832545	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113832545C>G	uc010tju.1	-	14	1248	c.1167G>C	c.(1165-1167)CAG>CAC	p.Q389H	PCID2_uc001vtb.2_Missense_Mutation_p.Q222H|PCID2_uc010tjv.1_Missense_Mutation_p.Q389H|PCID2_uc010tjw.1_Missense_Mutation_p.Q389H|PCID2_uc001vte.2_Missense_Mutation_p.Q282H|PCID2_uc001vtd.2_Missense_Mutation_p.Q282H|PCID2_uc001vtf.2_Missense_Mutation_p.Q282H	NM_001127203	NP_001120675	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	389					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding				0	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)															---	---	---	---	capture		Missense_Mutation	SNP	113832545	113832545	11999	13	C	G	G	32	32	PCID2	G	3	3
TTC5	91875	broad.mit.edu	37	14	20767039	20767039	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20767039C>A	uc001vwt.2	-	5	613	c.556G>T	c.(556-558)GGG>TGG	p.G186W	TTC5_uc001vwu.2_Missense_Mutation_p.G43W	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	186	TPR 3.				DNA repair	cytoplasm|nucleus	binding			ovary(1)	1	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)														---	---	---	---	capture		Missense_Mutation	SNP	20767039	20767039	17266	14	C	A	A	21	21	TTC5	A	2	2
ATL1	51062	broad.mit.edu	37	14	51098980	51098980	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:51098980C>A	uc001wyf.3	+	13	1841	c.1600C>A	c.(1600-1602)CAC>AAC	p.H534N	ATL1_uc001wyd.3_Missense_Mutation_p.H529N|ATL1_uc001wye.3_Missense_Mutation_p.H529N	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1 isoform a	534	Cytoplasmic.|Sufficient for membrane association.				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			skin(3)|central_nervous_system(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	51098980	51098980	1125	14	C	A	A	21	21	ATL1	A	2	2
KIAA0586	9786	broad.mit.edu	37	14	59014634	59014634	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:59014634G>T	uc001xdv.3	+	30	4676	c.4403G>T	c.(4402-4404)GGG>GTG	p.G1468V	KIAA0586_uc010trr.1_Silent_p.G1613G|KIAA0586_uc001xdt.3_Missense_Mutation_p.G1500V|KIAA0586_uc001xdu.3_Missense_Mutation_p.G1529V|KIAA0586_uc010trs.1_Missense_Mutation_p.G1459V	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN	talpid3 protein	1468										ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	59014634	59014634	8493	14	G	T	T	43	43	KIAA0586	T	2	2
PCNX	22990	broad.mit.edu	37	14	71524297	71524297	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:71524297G>T	uc001xmo.2	+	26	5154	c.4708G>T	c.(4708-4710)GGT>TGT	p.G1570C	PCNX_uc010are.1_Missense_Mutation_p.G1459C|PCNX_uc010arf.1_Intron	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	pecanex-like 1	1570						integral to membrane				ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)														---	---	---	---	capture		Missense_Mutation	SNP	71524297	71524297	12011	14	G	T	T	47	47	PCNX	T	2	2
MLH3	27030	broad.mit.edu	37	14	75485636	75485636	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75485636G>C	uc001xrd.1	-	12	4354	c.4138C>G	c.(4138-4140)CTT>GTT	p.L1380V	MLH3_uc001xre.1_Missense_Mutation_p.L1356V	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	mutL homolog 3 isoform 1	1380					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	75485636	75485636	10008	14	G	C	C	35	35	MLH3	C	3	3
MOAP1	64112	broad.mit.edu	37	14	93650307	93650307	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:93650307T>C	uc001ybj.2	-	3	651	c.281A>G	c.(280-282)AAG>AGG	p.K94R	C14orf109_uc001ybk.3_5'Flank|C14orf109_uc010auo.2_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	94					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			skin(2)|ovary(1)	3		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)														---	---	---	---	capture		Missense_Mutation	SNP	93650307	93650307	10071	14	T	C	C	56	56	MOAP1	C	4	4
BDKRB2	624	broad.mit.edu	37	14	96707262	96707262	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:96707262G>T	uc010avm.1	+	3	793	c.597G>T	c.(595-597)AAG>AAT	p.K199N	BDKRB2_uc010avl.1_3'UTR|BDKRB2_uc010twu.1_Missense_Mutation_p.K172N|BDKRB2_uc001yfg.2_Missense_Mutation_p.K199N	NM_000623	NP_000614	P30411	BKRB2_HUMAN	bradykinin receptor B2	199	Extracellular (Potential).				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			ovary(3)|breast(1)|kidney(1)	5		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)														---	---	---	---	capture		Missense_Mutation	SNP	96707262	96707262	1415	14	G	T	T	35	35	BDKRB2	T	2	2
PPP1R13B	23368	broad.mit.edu	37	14	104202372	104202372	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:104202372G>T	uc001yof.1	-	16	3482	c.3199C>A	c.(3199-3201)CGG>AGG	p.R1067R	PPP1R13B_uc010awv.1_RNA	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	apoptosis-stimulating protein of p53, 1	1067	SH3.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			ovary(1)	1		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)																---	---	---	---	capture		Silent	SNP	104202372	104202372	12792	14	G	T	T	39	39	PPP1R13B	T	1	1
AHNAK2	113146	broad.mit.edu	37	14	105405270	105405270	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105405270G>T	uc010axc.1	-	7	16638	c.16518C>A	c.(16516-16518)ATC>ATA	p.I5506I	AHNAK2_uc001ypx.2_Silent_p.I5406I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5506						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)															---	---	---	---	capture		Silent	SNP	105405270	105405270	418	14	G	T	T	41	41	AHNAK2	T	2	2
RPAP1	26015	broad.mit.edu	37	15	41823282	41823282	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:41823282G>T	uc001zod.2	-	7	1006	c.882C>A	c.(880-882)CCC>CCA	p.P294P		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	294						nucleus	DNA binding|DNA-directed RNA polymerase activity			large_intestine(1)	1		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)														---	---	---	---	capture		Silent	SNP	41823282	41823282	14020	15	G	T	T	43	43	RPAP1	T	2	2
UBR1	197131	broad.mit.edu	37	15	43335419	43335419	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43335419G>T	uc001zqq.2	-	15	1909	c.1843C>A	c.(1843-1845)CTT>ATT	p.L615I	UBR1_uc010udk.1_Missense_Mutation_p.L615I	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin	615					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			lung(1)	1		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)														---	---	---	---	capture		Missense_Mutation	SNP	43335419	43335419	17459	15	G	T	T	35	35	UBR1	T	2	2
MAP1A	4130	broad.mit.edu	37	15	43815575	43815575	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43815575C>A	uc001zrt.2	+	4	2371	c.1904C>A	c.(1903-1905)CCA>CAA	p.P635Q		NM_002373	NP_002364	P78559	MAP1A_HUMAN	microtubule-associated protein 1A	635						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			ovary(3)|breast(3)|pancreas(2)|skin(1)	9		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)													---	---	---	---	capture		Missense_Mutation	SNP	43815575	43815575	9610	15	C	A	A	21	21	MAP1A	A	2	2
ATP8B4	79895	broad.mit.edu	37	15	50226290	50226290	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50226290C>G	uc001zxu.2	-	15	1519	c.1377G>C	c.(1375-1377)ATG>ATC	p.M459I	ATP8B4_uc010ber.2_Missense_Mutation_p.M332I|ATP8B4_uc010ufd.1_Missense_Mutation_p.M332I|ATP8B4_uc010ufe.1_RNA	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	459	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			skin(3)|ovary(2)|breast(2)|large_intestine(1)	8		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)														---	---	---	---	capture		Missense_Mutation	SNP	50226290	50226290	1216	15	C	G	G	21	21	ATP8B4	G	3	3
USP8	9101	broad.mit.edu	37	15	50757333	50757333	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50757333C>G	uc001zym.3	+	8	1131	c.631C>G	c.(631-633)CAG>GAG	p.Q211E	USP8_uc001zyk.1_Translation_Start_Site|USP8_uc001zyl.3_Missense_Mutation_p.Q211E|USP8_uc001zyn.3_Missense_Mutation_p.Q211E|USP8_uc010ufh.1_Missense_Mutation_p.Q134E|USP8_uc010bev.1_Intron	NM_001128611	NP_001122083	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	211	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			lung(1)|central_nervous_system(1)	2				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)														---	---	---	---	capture		Missense_Mutation	SNP	50757333	50757333	17653	15	C	G	G	29	29	USP8	G	3	3
KIAA1370	56204	broad.mit.edu	37	15	52902292	52902292	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:52902292C>T	uc002acg.3	-	6	972	c.819G>A	c.(817-819)TGG>TGA	p.W273*	KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Nonsense_Mutation_p.W185*|KIAA1370_uc010ugf.1_Nonsense_Mutation_p.W280*	NM_019600	NP_062546	Q32MH5	K1370_HUMAN	hypothetical protein LOC56204	273											0				all cancers(107;0.0803)														---	---	---	---	capture		Nonsense_Mutation	SNP	52902292	52902292	8535	15	C	T	T	30	30	KIAA1370	T	5	2
TCF12	6938	broad.mit.edu	37	15	57574747	57574747	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:57574747G>T	uc002aec.2	+	19	2295	c.2011G>T	c.(2011-2013)GGG>TGG	p.G671W	TCF12_uc010ugm.1_Intron|TCF12_uc010ugn.1_Missense_Mutation_p.G691W|TCF12_uc002aea.2_Missense_Mutation_p.G695W|TCF12_uc010bfs.2_Missense_Mutation_p.G92W|TCF12_uc002aeb.2_Missense_Mutation_p.G695W|TCF12_uc002aed.2_Missense_Mutation_p.G671W|TCF12_uc002aee.2_Missense_Mutation_p.G501W|TCF12_uc010bft.2_Missense_Mutation_p.G525W|TCF12_uc010ugo.1_Missense_Mutation_p.G435W|TCF12_uc010ugp.1_Missense_Mutation_p.G328W|TCF12_uc010ugq.1_Missense_Mutation_p.G305W	NM_207038	NP_996921	Q99081	HTF4_HUMAN	transcription factor 12 isoform b	671					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(5)|ovary(2)|lung(1)	8		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)				T	TEC	extraskeletal myxoid chondrosarcoma								---	---	---	---	capture		Missense_Mutation	SNP	57574747	57574747	16213	15	G	T	T	47	47	TCF12	T	2	2
CGNL1	84952	broad.mit.edu	37	15	57730732	57730732	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:57730732A>G	uc002aeg.2	+	2	611	c.535A>G	c.(535-537)ACA>GCA	p.T179A	CGNL1_uc010bfw.2_Missense_Mutation_p.T179A	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN	cingulin-like 1	179	Head.					myosin complex|tight junction	motor activity			skin(6)|ovary(4)|central_nervous_system(1)	11				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)														---	---	---	---	capture		Missense_Mutation	SNP	57730732	57730732	3437	15	A	G	G	10	10	CGNL1	G	4	4
SNX1	6642	broad.mit.edu	37	15	64422135	64422135	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:64422135C>A	uc002amv.2	+	9	864	c.828C>A	c.(826-828)ACC>ACA	p.T276T	SNX1_uc010bgv.2_5'UTR|SNX1_uc010uio.1_Silent_p.T276T|SNX1_uc002amw.2_Silent_p.T276T|SNX1_uc002amx.2_Silent_p.T211T|SNX1_uc002amy.2_Silent_p.T205T|SNX1_uc010bgw.2_Silent_p.T178T	NM_003099	NP_003090	Q13596	SNX1_HUMAN	sorting nexin 1 isoform a	276					cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity				0																		---	---	---	---	capture		Silent	SNP	64422135	64422135	15380	15	C	A	A	22	22	SNX1	A	2	2
DENND4A	10260	broad.mit.edu	37	15	66010252	66010252	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66010252C>T	uc002aph.2	-	13	2049	c.1671G>A	c.(1669-1671)ATG>ATA	p.M557I	DENND4A_uc002api.2_Missense_Mutation_p.M557I|DENND4A_uc002apj.3_Missense_Mutation_p.M557I|DENND4A_uc010ujj.1_Missense_Mutation_p.M557I	NM_005848	NP_005839	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A isoform 2	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	66010252	66010252	4612	15	C	T	T	29	29	DENND4A	T	2	2
KIF23	9493	broad.mit.edu	37	15	69728082	69728082	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:69728082C>A	uc002asb.2	+	12	1361	c.1244C>A	c.(1243-1245)CCC>CAC	p.P415H	KIF23_uc002asc.2_Missense_Mutation_p.P415H|KIF23_uc010bii.2_Missense_Mutation_p.P305H|KIF23_uc010ukc.1_Missense_Mutation_p.P232H|KIF23_uc010bih.1_RNA	NM_138555	NP_612565	Q02241	KIF23_HUMAN	kinesin family member 23 isoform 1	415					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	69728082	69728082	8602	15	C	A	A	22	22	KIF23	A	2	2
KIAA1199	57214	broad.mit.edu	37	15	81199028	81199028	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:81199028G>T	uc002bfw.1	+	12	1696	c.1436G>T	c.(1435-1437)GGG>GTG	p.G479V	KIAA1199_uc010unn.1_Missense_Mutation_p.G479V	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	KIAA1199 precursor	479										upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	81199028	81199028	8521	15	G	T	T	43	43	KIAA1199	T	2	2
ALPK3	57538	broad.mit.edu	37	15	85401092	85401092	+	Silent	SNP	C	A	A	rs114823113	by1000genomes	TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85401092C>A	uc002ble.2	+	6	3896	c.3729C>A	c.(3727-3729)ACC>ACA	p.T1243T		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1243					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12			BRCA - Breast invasive adenocarcinoma(143;0.0587)															---	---	---	---	capture		Silent	SNP	85401092	85401092	549	15	C	A	A	23	23	ALPK3	A	1	1
AKAP13	11214	broad.mit.edu	37	15	86278326	86278326	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:86278326C>A	uc002blv.1	+	31	7556	c.7386C>A	c.(7384-7386)CCC>CCA	p.P2462P	AKAP13_uc002blu.1_Silent_p.P2466P|AKAP13_uc002blw.1_Silent_p.P927P|AKAP13_uc002blx.1_Silent_p.P707P	NM_007200	NP_009131	Q12802	AKP13_HUMAN	A-kinase anchor protein 13 isoform 2	2462	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9																		---	---	---	---	capture		Silent	SNP	86278326	86278326	452	15	C	A	A	22	22	AKAP13	A	2	2
SPATA8	145946	broad.mit.edu	37	15	97328309	97328309	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:97328309A>G	uc002bue.2	+	3	490	c.280A>G	c.(280-282)AGG>GGG	p.R94G	uc010urp.1_5'Flank|uc002bud.1_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	94										ovary(1)|skin(1)	2	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)															---	---	---	---	capture		Missense_Mutation	SNP	97328309	97328309	15525	15	A	G	G	7	7	SPATA8	G	4	4
OR4F15	390649	broad.mit.edu	37	15	102358897	102358897	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:102358897G>T	uc010uts.1	+	1	508	c.508G>T	c.(508-510)GGT>TGT	p.G170C		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F,	170	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)															---	---	---	---	capture		Missense_Mutation	SNP	102358897	102358897	11468	15	G	T	T	47	47	OR4F15	T	2	2
WDR90	197335	broad.mit.edu	37	16	711941	711941	+	Silent	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:711941G>C	uc002cii.1	+	32	3969	c.3915G>C	c.(3913-3915)TCG>TCC	p.S1305S	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.S832S|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Silent_p.S479S|WDR90_uc002cin.1_5'UTR	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1305	WD 15.									ovary(1)	1		Hepatocellular(780;0.0218)																---	---	---	---	capture		Silent	SNP	711941	711941	17911	16	G	C	C	38	38	WDR90	C	3	3
BTBD12	84464	broad.mit.edu	37	16	3640880	3640880	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3640880C>A	uc002cvp.2	-	12	3386	c.2759G>T	c.(2758-2760)TGG>TTG	p.W920L		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	BTB (POZ) domain containing 12	920	Interaction with PLK1 and TERF2-TERF2IP.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding				0													Direct_reversal_of_damage|Homologous_recombination	Fanconi_Anemia				---	---	---	---	capture		Missense_Mutation	SNP	3640880	3640880	1572	16	C	A	A	21	21	BTBD12	A	2	2
ABAT	18	broad.mit.edu	37	16	8868838	8868838	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:8868838C>T	uc002czc.3	+	13	1212	c.1046C>T	c.(1045-1047)CCA>CTA	p.P349L	ABAT_uc002czd.3_Missense_Mutation_p.P349L|ABAT_uc010buh.2_Missense_Mutation_p.P291L|ABAT_uc010bui.2_Missense_Mutation_p.P349L	NM_020686	NP_065737	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase precursor	349					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			upper_aerodigestive_tract(1)	1					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)													---	---	---	---	capture		Missense_Mutation	SNP	8868838	8868838	28	16	C	T	T	21	21	ABAT	T	2	2
GRIN2A	2903	broad.mit.edu	37	16	10031952	10031952	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:10031952T>C	uc002czo.3	-	3	1419	c.871A>G	c.(871-873)AGA>GGA	p.R291G	GRIN2A_uc010uym.1_Missense_Mutation_p.R291G|GRIN2A_uc010uyn.1_Missense_Mutation_p.R134G|GRIN2A_uc002czr.3_Missense_Mutation_p.R291G	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN	N-methyl-D-aspartate receptor subunit 2A isoform	291	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)													---	---	---	---	capture		Missense_Mutation	SNP	10031952	10031952	7058	16	T	C	C	54	54	GRIN2A	C	4	4
CPPED1	55313	broad.mit.edu	37	16	12798730	12798730	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:12798730C>A	uc002dca.3	-	3	577	c.466G>T	c.(466-468)GGG>TGG	p.G156W	CPPED1_uc002dcb.3_Intron|CPPED1_uc002dbz.3_RNA	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain	156							hydrolase activity|metal ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	12798730	12798730	3960	16	C	A	A	23	23	CPPED1	A	1	1
ABCC6	368	broad.mit.edu	37	16	16302587	16302587	+	Silent	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:16302587C>G	uc002den.3	-	7	829	c.792G>C	c.(790-792)CGG>CGC	p.R264R	ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Silent_p.R276R	NM_001171	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C, member 6	264	Cytoplasmic (By similarity).				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			skin(2)|ovary(1)	3				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)														---	---	---	---	capture		Silent	SNP	16302587	16302587	58	16	C	G	G	30	30	ABCC6	G	3	3
SMG1	23049	broad.mit.edu	37	16	18847327	18847327	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18847327T>C	uc002dfm.2	-	48	8348	c.7985A>G	c.(7984-7986)GAA>GGA	p.E2662G	SMG1_uc010bwb.2_Missense_Mutation_p.E2522G|SMG1_uc010bwa.2_Missense_Mutation_p.E1393G	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2662					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16																		---	---	---	---	capture		Missense_Mutation	SNP	18847327	18847327	15293	16	T	C	C	62	62	SMG1	C	4	4
GPRC5B	51704	broad.mit.edu	37	16	19883784	19883784	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19883784G>T	uc002dgt.2	-	2	492	c.384C>A	c.(382-384)CTC>CTA	p.L128L	GPRC5B_uc010vav.1_Silent_p.L154L	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5,	128	Helical; Name=3; (Potential).							p.L128F(1)		lung(1)|breast(1)|skin(1)	3																		---	---	---	---	capture		Silent	SNP	19883784	19883784	7001	16	G	T	T	33	33	GPRC5B	T	2	2
IL21R	50615	broad.mit.edu	37	16	27460142	27460142	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27460142G>T	uc002doq.1	+	9	1388	c.1155G>T	c.(1153-1155)GAG>GAT	p.E385D	IL21R_uc002dor.1_Missense_Mutation_p.E385D|IL21R_uc002dos.1_Missense_Mutation_p.E385D|uc002dot.2_RNA	NM_181078	NP_851564	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor precursor	385	Cytoplasmic (Potential).				natural killer cell activation	integral to membrane	interleukin-21 receptor activity			ovary(2)|lung(1)|breast(1)	4								T	BCL6	NHL								---	---	---	---	capture		Missense_Mutation	SNP	27460142	27460142	7972	16	G	T	T	35	35	IL21R	T	2	2
GDPD3	79153	broad.mit.edu	37	16	30124676	30124676	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30124676C>A	uc002dwp.2	-	1	203	c.124G>T	c.(124-126)GGG>TGG	p.G42W	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.2_5'UTR|LOC100271831_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain	42	Extracellular (Potential).				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	30124676	30124676	6593	16	C	A	A	22	22	GDPD3	A	2	2
STX1B	112755	broad.mit.edu	37	16	31012881	31012881	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:31012881C>A	uc010cad.2	-	2	186	c.74G>T	c.(73-75)CGG>CTG	p.R25L	STX1B_uc010vfd.1_Missense_Mutation_p.R25L	NM_052874	NP_443106	P61266	STX1B_HUMAN	syntaxin 1B	25	Cytoplasmic (Potential).				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity				0																		---	---	---	---	capture		Missense_Mutation	SNP	31012881	31012881	15864	16	C	A	A	23	23	STX1B	A	1	1
CCDC113	29070	broad.mit.edu	37	16	58293772	58293772	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58293772G>C	uc002ene.2	+	5	640	c.561G>C	c.(559-561)GAG>GAC	p.E187D	CCDC113_uc010vid.1_Missense_Mutation_p.E133D	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113 isoform 1	187	Potential.					protein complex					0																		---	---	---	---	capture		Missense_Mutation	SNP	58293772	58293772	2870	16	G	C	C	33	33	CCDC113	C	3	3
CDH8	1006	broad.mit.edu	37	16	61891136	61891136	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:61891136G>A	uc002eog.1	-	4	806	c.554C>T	c.(553-555)TCT>TTT	p.S185F	CDH8_uc002eoh.2_5'UTR	NM_001796	NP_001787	P55286	CADH8_HUMAN	cadherin 8, type 2 preproprotein	185	Extracellular (Potential).|Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(6)|skin(2)|breast(1)	9		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)														---	---	---	---	capture		Missense_Mutation	SNP	61891136	61891136	3245	16	G	A	A	33	33	CDH8	A	2	2
CKLF	51192	broad.mit.edu	37	16	66592182	66592182	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:66592182C>G	uc002eow.2	+	2	315	c.168C>G	c.(166-168)ATC>ATG	p.I56M	CKLF_uc002eox.1_Missense_Mutation_p.I56M|CKLF_uc002eot.2_Missense_Mutation_p.I56M|CKLF_uc002eou.2_Intron|CKLF_uc002eov.2_Intron	NM_016951	NP_058647	Q9UBR5	CKLF_HUMAN	chemokine-like factor isoform a	56	Helical; (Potential).|MARVEL.				cell proliferation|lymphocyte chemotaxis|macrophage chemotaxis|neutrophil chemotaxis|secretion by cell	extracellular space|integral to membrane	chemokine activity				0		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)														---	---	---	---	capture		Missense_Mutation	SNP	66592182	66592182	3583	16	C	G	G	32	32	CKLF	G	3	3
SLC7A6OS	84138	broad.mit.edu	37	16	68338045	68338045	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:68338045G>T	uc002evw.1	-	3	581	c.562C>A	c.(562-564)CAG>AAG	p.Q188K		NM_032178	NP_115554	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite	188					protein transport	cytoplasm|nucleus				ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)														---	---	---	---	capture		Missense_Mutation	SNP	68338045	68338045	15199	16	G	T	T	47	47	SLC7A6OS	T	2	2
CALB2	794	broad.mit.edu	37	16	71417890	71417890	+	Silent	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:71417890G>A	uc002faa.3	+	7	565	c.495G>A	c.(493-495)TTG>TTA	p.L165L	CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Silent_p.L165L	NM_001740	NP_001731	P22676	CALB2_HUMAN	calbindin 2 isoform 1	165	4 (Probable).|EF-hand 4.						calcium ion binding				0		Ovarian(137;0.125)																---	---	---	---	capture		Silent	SNP	71417890	71417890	2690	16	G	A	A	45	45	CALB2	A	2	2
SPATA22	84690	broad.mit.edu	37	17	3352127	3352127	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:3352127C>A	uc002fvm.2	-	6	883	c.646G>T	c.(646-648)GAT>TAT	p.D216Y	SPATA22_uc010vrg.1_Missense_Mutation_p.D200Y|SPATA22_uc010vrf.1_Missense_Mutation_p.D216Y|SPATA22_uc002fvn.2_Missense_Mutation_p.D216Y|SPATA22_uc002fvo.2_Missense_Mutation_p.D216Y|SPATA22_uc002fvp.2_Missense_Mutation_p.D216Y|SPATA22_uc010ckf.2_Missense_Mutation_p.D173Y	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	216											0																		---	---	---	---	capture		Missense_Mutation	SNP	3352127	3352127	15516	17	C	A	A	29	29	SPATA22	A	2	2
MINK1	50488	broad.mit.edu	37	17	4798478	4798478	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:4798478C>A	uc010vsl.1	+	25	3222	c.3026C>A	c.(3025-3027)CCT>CAT	p.P1009H	MINK1_uc010vsk.1_Missense_Mutation_p.P980H|MINK1_uc010vsm.1_Missense_Mutation_p.P989H|MINK1_uc010vsn.1_Missense_Mutation_p.P972H|MINK1_uc010vso.1_Missense_Mutation_p.P917H|MINK1_uc010vsp.1_Missense_Mutation_p.P470H	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1 isoform 3	1009	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	4798478	4798478	9977	17	C	A	A	24	24	MINK1	A	2	2
AMAC1L3	643664	broad.mit.edu	37	17	7386172	7386172	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7386172T>C	uc010cmj.1	+	2	984	c.869T>C	c.(868-870)GTG>GCG	p.V290A	ZBTB4_uc002ghd.3_Intron|POLR2A_uc002ghe.2_5'Flank|POLR2A_uc002ghf.3_5'Flank	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN	acyl-malonyl condensing enzyme 1-like 3	290	DUF6 2.|Helical; (Potential).					integral to membrane					0		Prostate(122;0.173)																---	---	---	---	capture		Missense_Mutation	SNP	7386172	7386172	564	17	T	C	C	59	59	AMAC1L3	C	4	4
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578212G>C	uc002gim.2	-	6	831	c.637C>G	c.(637-639)CGA>GGA	p.R213G	TP53_uc002gig.1_Missense_Mutation_p.R213G|TP53_uc002gih.2_Missense_Mutation_p.R213G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R81G|TP53_uc010cng.1_Missense_Mutation_p.R81G|TP53_uc002gii.1_Missense_Mutation_p.R81G|TP53_uc010cnh.1_Missense_Mutation_p.R213G|TP53_uc010cni.1_Missense_Mutation_p.R213G|TP53_uc002gij.2_Missense_Mutation_p.R213G|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R120G|TP53_uc002gio.2_Missense_Mutation_p.R81G|TP53_uc010vug.1_Missense_Mutation_p.R174G	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	213	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R81*(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)			111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			---	---	---	---	capture		Missense_Mutation	SNP	7578212	7578212	16923	17	G	C	C	37	37	TP53	C	3	3
WRAP53	55135	broad.mit.edu	37	17	7592120	7592120	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7592120C>A	uc010vuh.1	+	2	309	c.154C>A	c.(154-156)CGG>AGG	p.R52R	WRAP53_uc010vui.1_Silent_p.R52R|WRAP53_uc002gip.2_Silent_p.R52R|WRAP53_uc002gir.2_Silent_p.R52R|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Silent_p.R52R|TP53_uc010cnh.1_5'Flank|TP53_uc010cni.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010vug.1_5'Flank|TP53_uc010cnk.1_5'Flank	NM_001143990	NP_001137462	Q9BUR4	WAP53_HUMAN	WD repeat domain 79 isoform 2	52	Pro-rich.				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding				0																		---	---	---	---	capture		Silent	SNP	7592120	7592120	17974	17	C	A	A	23	23	WRAP53	A	1	1
DNAH2	146754	broad.mit.edu	37	17	7664160	7664160	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7664160G>T	uc002giu.1	+	17	2902	c.2888G>T	c.(2887-2889)CGG>CTG	p.R963L		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	dynein heavy chain domain 3	963	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(6)|skin(6)|central_nervous_system(1)	13		all_cancers(10;4.66e-07)|Prostate(122;0.081)																---	---	---	---	capture		Missense_Mutation	SNP	7664160	7664160	4785	17	G	T	T	39	39	DNAH2	T	1	1
MYH8	4626	broad.mit.edu	37	17	10309369	10309369	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10309369C>A	uc002gmm.2	-	21	2516	c.2421G>T	c.(2419-2421)ATG>ATT	p.M807I	uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle,	807	IQ.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			skin(6)|ovary(3)|breast(2)	11														Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling				---	---	---	---	capture		Missense_Mutation	SNP	10309369	10309369	10436	17	C	A	A	17	17	MYH8	A	2	2
DNAH9	1770	broad.mit.edu	37	17	11738145	11738145	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11738145G>A	uc002gne.2	+	49	9505	c.9437G>A	c.(9436-9438)TGT>TAT	p.C3146Y	DNAH9_uc010coo.2_Missense_Mutation_p.C2440Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	3146	Stalk (By similarity).|Potential.				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)														---	---	---	---	capture		Missense_Mutation	SNP	11738145	11738145	4791	17	G	A	A	48	48	DNAH9	A	2	2
ALDH3A1	218	broad.mit.edu	37	17	19646725	19646725	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19646725C>A	uc010cqu.2	-	2	544	c.214G>T	c.(214-216)GAG>TAG	p.E72*	ALDH3A1_uc010vzd.1_Nonsense_Mutation_p.E72*|ALDH3A1_uc002gwj.2_Nonsense_Mutation_p.E72*|ALDH3A1_uc010cqv.2_Nonsense_Mutation_p.E72*|ALDH3A1_uc002gwk.2_5'UTR|ALDH3A1_uc002gwl.1_5'UTR	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1	72					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)													---	---	---	---	capture		Nonsense_Mutation	SNP	19646725	19646725	500	17	C	A	A	31	31	ALDH3A1	A	5	1
ULK2	9706	broad.mit.edu	37	17	19685300	19685300	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:19685300C>A	uc002gwm.3	-	23	3050	c.2541G>T	c.(2539-2541)AGG>AGT	p.R847S	ULK2_uc002gwn.2_Missense_Mutation_p.R847S	NM_001142610	NP_001136082	Q8IYT8	ULK2_HUMAN	unc-51-like kinase 2	847					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			skin(2)|large_intestine(1)|stomach(1)	4	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)																	---	---	---	---	capture		Missense_Mutation	SNP	19685300	19685300	17534	17	C	A	A	22	22	ULK2	A	2	2
ALDOC	230	broad.mit.edu	37	17	26900934	26900934	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:26900934C>A	uc002hbp.2	-	8	963	c.818G>T	c.(817-819)GGG>GTG	p.G273V	PIGS_uc002hbn.2_5'Flank|PIGS_uc002hbo.2_5'Flank|PIGS_uc010wap.1_5'Flank|ALDOC_uc010cro.2_Missense_Mutation_p.G245V	NM_005165	NP_005156	P09972	ALDOC_HUMAN	fructose-bisphosphate aldolase C	273					fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis	cytosol	cytoskeletal protein binding|fructose-bisphosphate aldolase activity			ovary(1)	1	Lung NSC(42;0.00431)																	---	---	---	---	capture		Missense_Mutation	SNP	26900934	26900934	512	17	C	A	A	22	22	ALDOC	A	2	2
TAOK1	57551	broad.mit.edu	37	17	27809300	27809300	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:27809300G>C	uc002hdz.1	+	8	843	c.649G>C	c.(649-651)GAA>CAA	p.E217Q	TAOK1_uc010wbe.1_Missense_Mutation_p.E217Q|TAOK1_uc010wbf.1_Missense_Mutation_p.E217Q|TAOK1_uc002heb.1_Missense_Mutation_p.E43Q	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	217	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1)	4			Colorectal(6;0.198)															---	---	---	---	capture		Missense_Mutation	SNP	27809300	27809300	16068	17	G	C	C	45	45	TAOK1	C	3	3
NF1	4763	broad.mit.edu	37	17	29556952	29556952	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:29556952G>T	uc002hgg.2	+	22	3283	c.2950G>T	c.(2950-2952)GGG>TGG	p.G984W	NF1_uc002hgh.2_Missense_Mutation_p.G984W|NF1_uc010csn.1_Missense_Mutation_p.G844W|NF1_uc002hgi.1_Missense_Mutation_p.G17W	NM_001042492	NP_001035957	P21359	NF1_HUMAN	neurofibromin isoform 1	984					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.?(2)		soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)				D|Mis|N|F|S|O		neurofibroma|glioma	neurofibroma|glioma			Neurofibromatosis_type_1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	---	---	---	capture		Missense_Mutation	SNP	29556952	29556952	10756	17	G	T	T	35	35	NF1	T	2	2
SLFN12	55106	broad.mit.edu	37	17	33749131	33749131	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:33749131C>A	uc002hji.3	-	2	1294	c.917G>T	c.(916-918)AGA>ATA	p.R306I	SLFN12_uc002hjj.3_Missense_Mutation_p.R306I|SLFN12_uc010cts.2_Missense_Mutation_p.R306I	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	schlafen family member 12	306							ATP binding			skin(1)	1		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)														---	---	---	---	capture		Missense_Mutation	SNP	33749131	33749131	15231	17	C	A	A	32	32	SLFN12	A	2	2
GGNBP2	79893	broad.mit.edu	37	17	34942339	34942339	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:34942339C>T	uc002hnb.2	+	11	1685	c.1436C>T	c.(1435-1437)TCT>TTT	p.S479F	GGNBP2_uc002hna.2_3'UTR|GGNBP2_uc002hnc.1_Missense_Mutation_p.S308F	NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	zinc finger protein 403	479					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				ovary(2)	2		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)														---	---	---	---	capture		Missense_Mutation	SNP	34942339	34942339	6627	17	C	T	T	32	32	GGNBP2	T	2	2
PNMT	5409	broad.mit.edu	37	17	37826627	37826627	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:37826627G>T	uc002hsi.1	+	3	1056	c.834G>T	c.(832-834)CAG>CAT	p.Q278H		NM_002686	NP_002677	P11086	PNMT_HUMAN	phenylethanolamine N-methyltransferase	278					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			ovary(1)	1	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)															---	---	---	---	capture		Missense_Mutation	SNP	37826627	37826627	12586	17	G	T	T	33	33	PNMT	T	2	2
CNTNAP1	8506	broad.mit.edu	37	17	40842122	40842122	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:40842122C>A	uc002iay.2	+	12	1968	c.1752C>A	c.(1750-1752)TCC>TCA	p.S584S	CNTNAP1_uc010wgs.1_RNA	NM_003632	NP_003623	P78357	CNTP1_HUMAN	contactin associated protein 1 precursor	584	Extracellular (Potential).|Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)														---	---	---	---	capture		Silent	SNP	40842122	40842122	3784	17	C	A	A	24	24	CNTNAP1	A	2	2
MAP3K14	9020	broad.mit.edu	37	17	43350976	43350976	+	Splice_Site	SNP	T	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:43350976T>A	uc002iiw.1	-	10	1662	c.1553_splice	c.e10-1	p.A518_splice	MAP3K14_uc002iiu.1_Silent_p.A47A|MAP3K14_uc010daj.1_Splice_Site|MAP3K14_uc002iiv.1_Splice_Site_p.A102_splice	NM_003954	NP_003945			mitogen-activated protein kinase kinase kinase						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			central_nervous_system(3)|breast(2)|lung(1)|ovary(1)|stomach(1)	8																		---	---	---	---	capture		Splice_Site	SNP	43350976	43350976	9631	17	T	A	A	55	55	MAP3K14	A	5	4
DHX40	79665	broad.mit.edu	37	17	57665345	57665345	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57665345C>A	uc002ixn.1	+	12	1660	c.1513C>A	c.(1513-1515)CTG>ATG	p.L505M	DHX40_uc010woe.1_Missense_Mutation_p.L428M|DHX40_uc010wof.1_Missense_Mutation_p.L20M	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	505							ATP binding|ATP-dependent helicase activity|nucleic acid binding				0	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)																	---	---	---	---	capture		Missense_Mutation	SNP	57665345	57665345	4691	17	C	A	A	24	24	DHX40	A	2	2
USP32	84669	broad.mit.edu	37	17	58267963	58267963	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:58267963G>T	uc002iyo.1	-	29	3889	c.3603C>A	c.(3601-3603)CCC>CCA	p.P1201P	USP32_uc002iyn.1_Silent_p.P871P	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	ubiquitin specific protease 32	1201					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|breast(2)|large_intestine(1)	5	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)															---	---	---	---	capture		Silent	SNP	58267963	58267963	17627	17	G	T	T	47	47	USP32	T	2	2
CCDC47	57003	broad.mit.edu	37	17	61824274	61824274	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:61824274C>G	uc002jbs.3	-	13	1755	c.1419G>C	c.(1417-1419)ATG>ATC	p.M473I	CCDC47_uc010ddx.2_Missense_Mutation_p.M473I	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47 precursor	473	Potential.					integral to membrane	protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	61824274	61824274	2941	17	C	G	G	29	29	CCDC47	G	3	3
QRICH2	84074	broad.mit.edu	37	17	74287975	74287975	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74287975C>A	uc002jrd.1	-	4	2515	c.2335G>T	c.(2335-2337)GGT>TGT	p.G779C	QRICH2_uc010wsz.1_Missense_Mutation_p.G705C|QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	779							protein binding			ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	74287975	74287975	13338	17	C	A	A	21	21	QRICH2	A	2	2
ACTG1	71	broad.mit.edu	37	17	79477979	79477979	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:79477979G>T	uc002kaj.1	-	4	983	c.958C>A	c.(958-960)CTG>ATG	p.L320M	ACTG1_uc002kah.1_Missense_Mutation_p.L198M|ACTG1_uc002kai.1_Missense_Mutation_p.L277M|ACTG1_uc002kak.1_Missense_Mutation_p.L320M|ACTG1_uc010wun.1_Missense_Mutation_p.L320M|ACTG1_uc002kal.1_Missense_Mutation_p.L320M|ACTG1_uc002kag.2_RNA	NM_001614	NP_001605	P63261	ACTG_HUMAN	actin, gamma 1 propeptide	320					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			ovary(1)|central_nervous_system(1)	2	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)															---	---	---	---	capture		Missense_Mutation	SNP	79477979	79477979	197	17	G	T	T	35	35	ACTG1	T	2	2
TYMS	7298	broad.mit.edu	37	18	662178	662178	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:662178G>T	uc010dka.1	+	3	451	c.312G>T	c.(310-312)AAG>AAT	p.K104N	TYMS_uc010dkb.1_Missense_Mutation_p.K104N|TYMS_uc010dkc.1_Intron	NM_001071	NP_001062	P04818	TYSY_HUMAN	thymidylate synthase	104					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity				0					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)													---	---	---	---	capture		Missense_Mutation	SNP	662178	662178	17369	18	G	T	T	35	35	TYMS	T	2	2
NDC80	10403	broad.mit.edu	37	18	2595474	2595474	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2595474C>A	uc002kli.2	+	11	1257	c.1075C>A	c.(1075-1077)CAG>AAG	p.Q359K		NM_006101	NP_006092	O14777	NDC80_HUMAN	kinetochore associated 2	359	Interaction with the N-terminus of CDCA1.|Potential.|Interaction with NEK2 and ZWINT.|Interaction with SMC1A.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	2595474	2595474	10641	18	C	A	A	21	21	NDC80	A	2	2
SMCHD1	23347	broad.mit.edu	37	18	2740761	2740761	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:2740761C>G	uc002klm.3	+	28	3764	c.3575C>G	c.(3574-3576)TCT>TGT	p.S1192C	SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible	1192					chromosome organization		ATP binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	2740761	2740761	15286	18	C	G	G	32	32	SMCHD1	G	3	3
TMEM200C	645369	broad.mit.edu	37	18	5891948	5891948	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:5891948C>T	uc002kmx.1	-	1	156	c.115G>A	c.(115-117)GTG>ATG	p.V39M		NM_001080209	NP_001073678	A6NKL6	T200C_HUMAN	transmembrane protein 200C	39						integral to membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	5891948	5891948	16660	18	C	T	T	19	19	TMEM200C	T	1	1
OSBPL1A	114876	broad.mit.edu	37	18	21819282	21819282	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:21819282G>A	uc002kve.2	-	16	1520	c.1346C>T	c.(1345-1347)ACG>ATG	p.T449M	OSBPL1A_uc002kvd.2_Translation_Start_Site|OSBPL1A_uc010xbc.1_Missense_Mutation_p.T67M|OSBPL1A_uc002kvf.3_Missense_Mutation_p.T229M	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	oxysterol-binding protein-like 1A isoform B	449	Potential.				cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			ovary(4)	4	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)																	---	---	---	---	capture		Missense_Mutation	SNP	21819282	21819282	11688	18	G	A	A	40	40	OSBPL1A	A	1	1
RNF125	54941	broad.mit.edu	37	18	29617122	29617122	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:29617122T>C	uc002kxf.1	+	2	590	c.208T>C	c.(208-210)TGG>CGG	p.W70R		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	ring finger protein 125	70	RING-type.				negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	29617122	29617122	13911	18	T	C	C	59	59	RNF125	C	4	4
KLHL14	57565	broad.mit.edu	37	18	30257157	30257157	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:30257157C>A	uc002kxm.1	-	8	2113	c.1725G>T	c.(1723-1725)GTG>GTT	p.V575V	KLHL14_uc010dmd.1_Silent_p.V124V	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	kelch-like 14	575	Kelch 6.					cytosol|endoplasmic reticulum membrane				ovary(1)	1																		---	---	---	---	capture		Silent	SNP	30257157	30257157	8682	18	C	A	A	21	21	KLHL14	A	2	2
TCEB3C	162699	broad.mit.edu	37	18	44555280	44555280	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:44555280G>T	uc010xdb.1	-	1	1170	c.934C>A	c.(934-936)CCT>ACT	p.P312T	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide	312	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	44555280	44555280	16209	18	G	T	T	43	43	TCEB3C	T	2	2
MYO5B	4645	broad.mit.edu	37	18	47375949	47375949	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:47375949G>T	uc002leb.2	-	32	4591	c.4303C>A	c.(4303-4305)CAG>AAG	p.Q1435K	MYO5B_uc002ldz.2_Missense_Mutation_p.Q5K|MYO5B_uc002lea.2_Missense_Mutation_p.Q550K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	myosin VB	1435	Potential.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			ovary(2)|skin(2)|central_nervous_system(1)	5				READ - Rectum adenocarcinoma(32;0.103)														---	---	---	---	capture		Missense_Mutation	SNP	47375949	47375949	10474	18	G	T	T	47	47	MYO5B	T	2	2
ALPK2	115701	broad.mit.edu	37	18	56202694	56202694	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:56202694G>T	uc002lhj.3	-	5	4939	c.4725C>A	c.(4723-4725)CCC>CCA	p.P1575P	ALPK2_uc002lhk.1_Silent_p.P906P	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	heart alpha-kinase	1575							ATP binding|protein serine/threonine kinase activity			ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14																		---	---	---	---	capture		Silent	SNP	56202694	56202694	548	18	G	T	T	47	47	ALPK2	T	2	2
ZNF407	55628	broad.mit.edu	37	18	72345749	72345749	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72345749G>T	uc002llw.2	+	1	2831	c.2774G>T	c.(2773-2775)GGG>GTG	p.G925V	ZNF407_uc010xfc.1_Missense_Mutation_p.G925V|ZNF407_uc010dqu.1_Missense_Mutation_p.G925V|ZNF407_uc002llu.2_Missense_Mutation_p.G924V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	zinc finger protein 407 isoform 1	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)														---	---	---	---	capture		Missense_Mutation	SNP	72345749	72345749	18480	18	G	T	T	43	43	ZNF407	T	2	2
ZADH2	284273	broad.mit.edu	37	18	72914002	72914002	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:72914002C>A	uc002llx.2	-	2	771	c.503G>T	c.(502-504)GGA>GTA	p.G168V	ZADH2_uc010dqv.2_Missense_Mutation_p.G45V	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain	168						peroxisome	oxidoreductase activity|zinc ion binding				0		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)														---	---	---	---	capture		Missense_Mutation	SNP	72914002	72914002	18094	18	C	A	A	30	30	ZADH2	A	2	2
SLC39A3	29985	broad.mit.edu	37	19	2733429	2733429	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2733429T>C	uc002lwg.2	-	3	519	c.265A>G	c.(265-267)ACC>GCC	p.T89A	SLC39A3_uc010xgy.1_Missense_Mutation_p.T89A	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter),	89	Helical; (Potential).					integral to membrane|plasma membrane	zinc ion transmembrane transporter activity				0		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)														---	---	---	---	capture		Missense_Mutation	SNP	2733429	2733429	15116	19	T	C	C	60	60	SLC39A3	C	4	4
KDM4B	23030	broad.mit.edu	37	19	5082393	5082393	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5082393G>T	uc002mbq.3	+	9	1022	c.796G>T	c.(796-798)GGG>TGG	p.G266W	KDM4B_uc010xil.1_Missense_Mutation_p.G266W|KDM4B_uc010xim.1_Missense_Mutation_p.G266W|KDM4B_uc002mbr.3_Missense_Mutation_p.G24W	NM_015015	NP_055830	O94953	KDM4B_HUMAN	jumonji domain containing 2B	266	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			lung(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	5082393	5082393	8435	19	G	T	T	39	39	KDM4B	T	1	1
FUT3	2525	broad.mit.edu	37	19	5844194	5844194	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:5844194C>A	uc002mdk.2	-	2	754	c.657G>T	c.(655-657)GTG>GTT	p.V219V	FUT3_uc002mdm.2_Silent_p.V219V|FUT3_uc002mdj.2_Silent_p.V219V|FUT3_uc002mdl.2_Silent_p.V219V	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	fucosyltransferase 3	219	Lumenal (Potential).				protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity				0																		---	---	---	---	capture		Silent	SNP	5844194	5844194	6356	19	C	A	A	21	21	FUT3	A	2	2
RFX2	5990	broad.mit.edu	37	19	6040087	6040087	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:6040087G>C	uc002meb.2	-	5	695	c.426C>G	c.(424-426)AGC>AGG	p.S142R	RFX2_uc002mec.2_Missense_Mutation_p.S142R|RFX2_uc010xiy.1_Missense_Mutation_p.S97R	NM_000635	NP_000626	P48378	RFX2_HUMAN	regulatory factor X2 isoform a	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|ovary(1)|skin(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	6040087	6040087	13735	19	G	C	C	42	42	RFX2	C	3	3
MUC16	94025	broad.mit.edu	37	19	9088899	9088899	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9088899G>T	uc002mkp.2	-	1	3120	c.2916C>A	c.(2914-2916)CCC>CCA	p.P972P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	972	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Silent	SNP	9088899	9088899	10367	19	G	T	T	47	47	MUC16	T	2	2
MUC16	94025	broad.mit.edu	37	19	9091388	9091388	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:9091388C>G	uc002mkp.2	-	1	631	c.427G>C	c.(427-429)GAA>CAA	p.E143Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	mucin 16	143	Thr-rich.|Extracellular (Potential).				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57																		---	---	---	---	capture		Missense_Mutation	SNP	9091388	9091388	10367	19	C	G	G	32	32	MUC16	G	3	3
RDH8	50700	broad.mit.edu	37	19	10131451	10131451	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10131451C>T	uc002mmr.2	+	4	758	c.509C>T	c.(508-510)GCT>GTT	p.A170V		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	170	Helical; (Potential).				estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			ovary(3)|pancreas(1)	4			Epithelial(33;4.24e-05)		Vitamin A(DB00162)													---	---	---	---	capture		Missense_Mutation	SNP	10131451	10131451	13665	19	C	T	T	28	28	RDH8	T	2	2
TYK2	7297	broad.mit.edu	37	19	10477219	10477219	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10477219C>A	uc002moc.3	-	6	881	c.503G>T	c.(502-504)TGG>TTG	p.W168L	TYK2_uc010dxe.2_5'UTR|TYK2_uc002mod.2_Missense_Mutation_p.W168L	NM_003331	NP_003322	P29597	TYK2_HUMAN	tyrosine kinase 2	168	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			lung(5)|large_intestine(2)|ovary(1)|breast(1)	9			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)															---	---	---	---	capture		Missense_Mutation	SNP	10477219	10477219	17367	19	C	A	A	21	21	TYK2	A	2	2
ILF3	3609	broad.mit.edu	37	19	10791792	10791792	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:10791792C>A	uc002mpn.2	+	10	1372	c.1055C>A	c.(1054-1056)CCA>CAA	p.P352Q	ILF3_uc002mpm.2_Missense_Mutation_p.P352Q|ILF3_uc002mpl.2_Missense_Mutation_p.P352Q|ILF3_uc002mpk.2_Missense_Mutation_p.P352Q|ILF3_uc010xli.1_Intron|ILF3_uc002mpo.2_Missense_Mutation_p.P352Q|ILF3_uc002mpp.2_Missense_Mutation_p.P173Q	NM_012218	NP_036350	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3 isoform a	352					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding|protein binding			ovary(3)	3			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)															---	---	---	---	capture		Missense_Mutation	SNP	10791792	10791792	8013	19	C	A	A	21	21	ILF3	A	2	2
ZNF443	10224	broad.mit.edu	37	19	12541959	12541959	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:12541959C>A	uc002mtu.2	-	4	1225	c.1027G>T	c.(1027-1029)GGG>TGG	p.G343W		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	343	C2H2-type 8.				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			pancreas(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	12541959	12541959	18509	19	C	A	A	21	21	ZNF443	A	2	2
ZNF98	148198	broad.mit.edu	37	19	22575630	22575630	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:22575630T>C	uc002nqt.2	-	4	529	c.407A>G	c.(406-408)AAA>AGA	p.K136R		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	zinc finger protein 98	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)|skin(1)	2		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)																---	---	---	---	capture		Missense_Mutation	SNP	22575630	22575630	18807	19	T	C	C	64	64	ZNF98	C	4	4
ZNF91	7644	broad.mit.edu	37	19	23545174	23545174	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:23545174C>T	uc002nre.2	-	4	720	c.607G>A	c.(607-609)GTT>ATT	p.V203I	ZNF91_uc010xrj.1_Missense_Mutation_p.V171I	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	zinc finger protein 91	203						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)																---	---	---	---	capture		Missense_Mutation	SNP	23545174	23545174	18804	19	C	T	T	19	19	ZNF91	T	1	1
TSHZ3	57616	broad.mit.edu	37	19	31769798	31769798	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:31769798G>T	uc002nsy.3	-	2	966	c.901C>A	c.(901-903)CAA>AAA	p.Q301K		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	zinc finger protein 537	301					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(4)|skin(2)|pancreas(1)|lung(1)	8	Esophageal squamous(110;0.226)																	---	---	---	---	capture		Missense_Mutation	SNP	31769798	31769798	17176	19	G	T	T	47	47	TSHZ3	T	2	2
ZNF585A	199704	broad.mit.edu	37	19	37642521	37642521	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37642521C>A	uc002ofo.1	-	5	2511	c.2280G>T	c.(2278-2280)GTG>GTT	p.V760V	ZNF585A_uc002ofm.1_Silent_p.V705V|ZNF585A_uc002ofn.1_Silent_p.V705V	NM_199126	NP_954577	Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	760	C2H2-type 22.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			ovary(1)|central_nervous_system(1)|skin(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---	capture		Silent	SNP	37642521	37642521	18612	19	C	A	A	17	17	ZNF585A	A	2	2
ZNF570	148268	broad.mit.edu	37	19	37976113	37976113	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37976113C>A	uc002ogk.1	+	5	2118	c.1589C>A	c.(1588-1590)CCA>CAA	p.P530Q	ZNF570_uc010efl.1_Missense_Mutation_p.P586Q|ZNF570_uc010xtr.1_Missense_Mutation_p.P327Q	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	zinc finger protein 570	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---	capture		Missense_Mutation	SNP	37976113	37976113	18597	19	C	A	A	21	21	ZNF570	A	2	2
ZNF571	51276	broad.mit.edu	37	19	38055724	38055724	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38055724C>A	uc002ogt.2	-	4	1707	c.1606G>T	c.(1606-1608)GGG>TGG	p.G536W	uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Missense_Mutation_p.G536W	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	536	C2H2-type 15.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)															---	---	---	---	capture		Missense_Mutation	SNP	38055724	38055724	18598	19	C	A	A	21	21	ZNF571	A	2	2
FBXO27	126433	broad.mit.edu	37	19	39521752	39521752	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:39521752C>G	uc002okh.2	-	4	571	c.489G>C	c.(487-489)AAG>AAC	p.K163N		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	F-box protein 27	163	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			ovary(1)	1	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)															---	---	---	---	capture		Missense_Mutation	SNP	39521752	39521752	5974	19	C	G	G	32	32	FBXO27	G	3	3
EXOSC5	56915	broad.mit.edu	37	19	41903110	41903110	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:41903110C>T	uc002oqo.2	-	1	147	c.124G>A	c.(124-126)GAT>AAT	p.D42N	CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron|BCKDHA_uc002oqp.1_5'Flank|BCKDHA_uc002oqq.2_5'Flank|BCKDHA_uc002oqr.2_5'Flank|BCKDHA_uc010xvz.1_5'Flank	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	exosome component Rrp46	42					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	41903110	41903110	5511	19	C	T	T	32	32	EXOSC5	T	2	2
CEACAM3	1084	broad.mit.edu	37	19	42314027	42314027	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42314027G>T	uc002orn.1	+	4	643	c.567G>T	c.(565-567)AAG>AAT	p.K189N	CEACAM3_uc010eia.1_Intron|CEACAM3_uc002oro.1_RNA	NM_001815	NP_001806	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion	189	Cytoplasmic (Potential).					integral to membrane				skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	42314027	42314027	3326	19	G	T	T	35	35	CEACAM3	T	2	2
GSK3A	2931	broad.mit.edu	37	19	42740845	42740845	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42740845C>A	uc002otb.1	-	4	698	c.579G>T	c.(577-579)CTG>CTT	p.L193L	GSK3A_uc002ota.1_Silent_p.L111L|GSK3A_uc002otc.2_RNA	NM_019884	NP_063937	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	193	Protein kinase.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity			ovary(2)|lung(2)	4		Prostate(69;0.00682)																---	---	---	---	capture		Silent	SNP	42740845	42740845	7103	19	C	A	A	21	21	GSK3A	A	2	2
PSG8	440533	broad.mit.edu	37	19	43262247	43262247	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43262247C>A	uc002ouo.2	-	3	714	c.616G>T	c.(616-618)GGT>TGT	p.G206C	PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.G45C|PSG8_uc002ouh.2_Missense_Mutation_p.G206C|PSG8_uc010ein.2_Missense_Mutation_p.G84C|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Missense_Mutation_p.G45C|PSG8_uc002oul.3_Missense_Mutation_p.G206C|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8 isoform	206	Ig-like C2-type 1.					extracellular region					0		Prostate(69;0.00899)																---	---	---	---	capture		Missense_Mutation	SNP	43262247	43262247	13114	19	C	A	A	22	22	PSG8	A	2	2
ZNF223	7766	broad.mit.edu	37	19	44571197	44571197	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44571197G>T	uc002oyf.1	+	5	1469	c.1216G>T	c.(1216-1218)GGG>TGG	p.G406W	ZNF284_uc010ejd.2_RNA	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	zinc finger protein 223	406	C2H2-type 9.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0352)																---	---	---	---	capture		Missense_Mutation	SNP	44571197	44571197	18368	19	G	T	T	47	47	ZNF223	T	2	2
ZNF227	7770	broad.mit.edu	37	19	44721972	44721972	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44721972C>A	uc002oyu.2	+	3	232	c.27C>A	c.(25-27)CCC>CCA	p.P9P	ZNF227_uc010xwu.1_5'UTR|ZNF227_uc002oyv.2_Silent_p.P9P|ZNF227_uc010xwv.1_Intron|ZNF227_uc010xww.1_Intron|ZNF227_uc002oyw.2_Silent_p.P9P|ZNF227_uc010ejh.2_Silent_p.P9P	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Prostate(69;0.0435)																---	---	---	---	capture		Silent	SNP	44721972	44721972	18372	19	C	A	A	22	22	ZNF227	A	2	2
ZNF235	9310	broad.mit.edu	37	19	44792243	44792243	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44792243G>T	uc002oza.3	-	5	1448	c.1345C>A	c.(1345-1347)CAT>AAT	p.H449N	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.H445N|ZNF235_uc010xwx.1_Missense_Mutation_p.H363N	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	449	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)																---	---	---	---	capture		Missense_Mutation	SNP	44792243	44792243	18379	19	G	T	T	47	47	ZNF235	T	2	2
ZNF235	9310	broad.mit.edu	37	19	44793188	44793188	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44793188G>T	uc002oza.3	-	5	503	c.400C>A	c.(400-402)CCC>ACC	p.P134T	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.P130T|ZNF235_uc010xwx.1_Missense_Mutation_p.P48T	NM_004234	NP_004225	Q14590	ZN235_HUMAN	zinc finger protein 93 homolog	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)	3		Prostate(69;0.0352)|all_neural(266;0.116)																---	---	---	---	capture		Missense_Mutation	SNP	44793188	44793188	18379	19	G	T	T	43	43	ZNF235	T	2	2
ZNF229	7772	broad.mit.edu	37	19	44932748	44932748	+	Silent	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44932748G>A	uc002oze.1	-	6	2642	c.2208C>T	c.(2206-2208)GGC>GGT	p.G736G	ZNF229_uc010ejk.1_Silent_p.G390G|ZNF229_uc010ejl.1_Silent_p.G730G	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)																---	---	---	---	capture		Silent	SNP	44932748	44932748	18373	19	G	A	A	38	38	ZNF229	A	1	1
ZNF229	7772	broad.mit.edu	37	19	44932971	44932971	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:44932971C>T	uc002oze.1	-	6	2419	c.1985G>A	c.(1984-1986)GGA>GAA	p.G662E	ZNF229_uc010ejk.1_Missense_Mutation_p.G316E|ZNF229_uc010ejl.1_Missense_Mutation_p.G656E	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	662	C2H2-type 13.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|pancreas(1)	4		Prostate(69;0.0352)																---	---	---	---	capture		Missense_Mutation	SNP	44932971	44932971	18373	19	C	T	T	30	30	ZNF229	T	2	2
IGFL2	147920	broad.mit.edu	37	19	46664046	46664046	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46664046C>A	uc010xxv.1	+	3	285	c.249C>A	c.(247-249)TCC>TCA	p.S83S	IGFL2_uc002peb.2_Silent_p.S94S	NM_001135113	NP_001128585	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2 isoform b	83						extracellular region	protein binding				0		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)														---	---	---	---	capture		Silent	SNP	46664046	46664046	7888	19	C	A	A	24	24	IGFL2	A	2	2
PNMAL1	55228	broad.mit.edu	37	19	46973831	46973831	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46973831C>A	uc002peq.3	-	2	768	c.462G>T	c.(460-462)CTG>CTT	p.L154L	PNMAL1_uc002per.3_Silent_p.L154L	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	PNMA-like 1 isoform a	154											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	46973831	46973831	12584	19	C	A	A	21	21	PNMAL1	A	2	2
BCAT2	587	broad.mit.edu	37	19	49310325	49310325	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49310325C>A	uc002pkr.2	-	2	68	c.31G>T	c.(31-33)GCA>TCA	p.A11S	BCAT2_uc002pkp.2_5'UTR|BCAT2_uc002pkq.3_5'UTR|BCAT2_uc002pks.2_5'UTR|BCAT2_uc002pkt.2_Intron|BCAT2_uc010emh.1_Missense_Mutation_p.A11S|BCAT2_uc010emi.1_Intron|BCAT2_uc002pku.1_5'UTR|BCAT2_uc010emj.1_RNA	NM_001190	NP_001181	O15382	BCAT2_HUMAN	branched chain aminotransferase 2, mitochondrial	11						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			ovary(1)	1		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	49310325	49310325	1376	19	C	A	A	26	26	BCAT2	A	2	2
TULP2	7288	broad.mit.edu	37	19	49398264	49398264	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49398264G>T	uc002pkz.2	-	6	656	c.505C>A	c.(505-507)CAA>AAA	p.Q169K		NM_003323	NP_003314	O00295	TULP2_HUMAN	tubby like protein 2	169					visual perception	cytoplasm|extracellular region				ovary(1)|kidney(1)|skin(1)	3		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)														---	---	---	---	capture		Missense_Mutation	SNP	49398264	49398264	17329	19	G	T	T	47	47	TULP2	T	2	2
NUCB1	4924	broad.mit.edu	37	19	49416395	49416395	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49416395A>T	uc002plb.3	+	6	680	c.608A>T	c.(607-609)GAG>GTG	p.E203V	NUCB1_uc002pla.2_Missense_Mutation_p.E203V|NUCB1_uc002plc.2_Missense_Mutation_p.E203V	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	nucleobindin 1 precursor	203	Potential.|Potential.					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding				0		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)														---	---	---	---	capture		Missense_Mutation	SNP	49416395	49416395	11123	19	A	T	T	11	11	NUCB1	T	4	4
CACNG7	59284	broad.mit.edu	37	19	54416243	54416243	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54416243C>T	uc002qcr.1	+	1	173	c.158C>T	c.(157-159)GCC>GTC	p.A53V	CACNG7_uc010era.1_Missense_Mutation_p.A53V	NM_031896	NP_114102	P62955	CCG7_HUMAN	voltage-dependent calcium channel gamma-7	53					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(1)	1	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)														---	---	---	---	capture		Missense_Mutation	SNP	54416243	54416243	2678	19	C	T	T	26	26	CACNG7	T	2	2
LENG9	94059	broad.mit.edu	37	19	54973455	54973455	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54973455G>C	uc010yez.1	-	1	1440	c.1321C>G	c.(1321-1323)CCA>GCA	p.P441A		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	441					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)														---	---	---	---	capture		Missense_Mutation	SNP	54973455	54973455	9049	19	G	C	C	41	41	LENG9	C	3	3
NLRP13	126204	broad.mit.edu	37	19	56423991	56423991	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:56423991G>T	uc010ygg.1	-	5	1217	c.1192C>A	c.(1192-1194)CAC>AAC	p.H398N		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	NACHT, leucine rich repeat and PYD containing	398	NACHT.						ATP binding			skin(4)|ovary(3)|pancreas(1)|lung(1)	9		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)														---	---	---	---	capture		Missense_Mutation	SNP	56423991	56423991	10878	19	G	T	T	48	48	NLRP13	T	2	2
ZFP28	140612	broad.mit.edu	37	19	57066051	57066051	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57066051G>A	uc002qnj.2	+	8	1968	c.1897G>A	c.(1897-1899)GCC>ACC	p.A633T	uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	zinc finger protein 28	633	C2H2-type 8.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)														---	---	---	---	capture		Missense_Mutation	SNP	57066051	57066051	18230	19	G	A	A	46	46	ZFP28	A	2	2
USP29	57663	broad.mit.edu	37	19	57642759	57642759	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57642759G>T	uc002qny.2	+	4	3072	c.2716G>T	c.(2716-2718)GGG>TGG	p.G906W		NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	906					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			lung(6)|ovary(2)|breast(2)|pancreas(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)														---	---	---	---	capture		Missense_Mutation	SNP	57642759	57642759	17623	19	G	T	T	35	35	USP29	T	2	2
ZNF543	125919	broad.mit.edu	37	19	57839995	57839995	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57839995C>A	uc002qoi.1	+	4	1510	c.1165C>A	c.(1165-1167)CAC>AAC	p.H389N		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	zinc finger protein 543	389	C2H2-type 7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(1)|pancreas(1)	2		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)														---	---	---	---	capture		Missense_Mutation	SNP	57839995	57839995	18571	19	C	A	A	21	21	ZNF543	A	2	2
KCNS3	3790	broad.mit.edu	37	2	18113248	18113248	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:18113248G>T	uc002rcv.2	+	3	1424	c.973G>T	c.(973-975)GGG>TGG	p.G325W	KCNS3_uc002rcw.2_Missense_Mutation_p.G325W	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel	325	Helical; Name=Segment S5; (Potential).				energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			ovary(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)																	---	---	---	---	capture		Missense_Mutation	SNP	18113248	18113248	8395	2	G	T	T	47	47	KCNS3	T	2	2
UBXN2A	165324	broad.mit.edu	37	2	24222688	24222688	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:24222688T>A	uc010exy.2	+	8	1199	c.731T>A	c.(730-732)ATT>AAT	p.I244N	UBXN2A_uc002rem.2_RNA|UBXN2A_uc002ren.2_Missense_Mutation_p.I244N|UBXN2A_uc010ykj.1_Missense_Mutation_p.I191N	NM_181713	NP_859064	P68543	UBX2A_HUMAN	UBX domain containing 4	244	UBX.										0																		---	---	---	---	capture		Missense_Mutation	SNP	24222688	24222688	17472	2	T	A	A	52	52	UBXN2A	A	4	4
GTF3C2	2976	broad.mit.edu	37	2	27552308	27552308	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27552308G>T	uc002rjv.1	-	14	2178	c.1815C>A	c.(1813-1815)CCC>CCA	p.P605P	GTF3C2_uc010eyy.1_Silent_p.P60P|GTF3C2_uc002rju.1_Silent_p.P616P|GTF3C2_uc002rjw.1_Silent_p.P605P	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide	605						transcription factor TFIIIC complex				ovary(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture		Silent	SNP	27552308	27552308	7153	2	G	T	T	35	35	GTF3C2	T	2	2
IFT172	26160	broad.mit.edu	37	2	27700166	27700166	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:27700166C>A	uc002rku.2	-	13	1294	c.1243G>T	c.(1243-1245)GGA>TGA	p.G415*	IFT172_uc002rkw.2_Nonsense_Mutation_p.G415*|IFT172_uc010yls.1_Nonsense_Mutation_p.G394*|IFT172_uc010ezc.2_Nonsense_Mutation_p.G415*|IFT172_uc002rkv.2_Nonsense_Mutation_p.G389*	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	selective LIM binding factor homolog	415					cilium assembly	cilium	binding			large_intestine(1)|ovary(1)	2	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Nonsense_Mutation	SNP	27700166	27700166	7858	2	C	A	A	23	23	IFT172	A	5	1
PPP1CB	5500	broad.mit.edu	37	2	29011575	29011575	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:29011575G>T	uc002rmg.2	+	7	804	c.644G>T	c.(643-645)TGG>TTG	p.W215L	PPP1CB_uc010ymj.1_Missense_Mutation_p.W187L|PPP1CB_uc010yml.1_Missense_Mutation_p.W187L|PPP1CB_uc002rmh.2_Missense_Mutation_p.W215L|SPDYA_uc002rmi.2_5'UTR	NM_206876	NP_996759	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta	215					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			skin(1)	1	Acute lymphoblastic leukemia(172;0.155)																	---	---	---	---	capture		Missense_Mutation	SNP	29011575	29011575	12785	2	G	T	T	47	47	PPP1CB	T	2	2
C2orf56	55471	broad.mit.edu	37	2	37474646	37474646	+	Silent	SNP	A	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:37474646A>T	uc002rqa.3	+	9	1059	c.984A>T	c.(982-984)ACA>ACT	p.T328T	C2orf56_uc010ynj.1_RNA|C2orf56_uc002rqc.3_Silent_p.T230T|C2orf56_uc010ynk.1_Silent_p.T257T|C2orf56_uc010ynl.1_Silent_p.T301T|C2orf56_uc010fah.2_RNA	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	hypothetical protein LOC55471 isoform 1	328					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)	1		all_hematologic(82;0.21)																---	---	---	---	capture		Silent	SNP	37474646	37474646	2265	2	A	T	T	7	7	C2orf56	T	4	4
FOXN2	3344	broad.mit.edu	37	2	48573443	48573443	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:48573443G>T	uc002rwh.1	+	3	405	c.90G>T	c.(88-90)ATG>ATT	p.M30I		NM_002158	NP_002149	P32314	FOXN2_HUMAN	T-cell leukemia virus enhancer factor	30					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding				0		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)															---	---	---	---	capture		Missense_Mutation	SNP	48573443	48573443	6266	2	G	T	T	47	47	FOXN2	T	2	2
CEP68	23177	broad.mit.edu	37	2	65296848	65296848	+	Silent	SNP	C	A	A	rs112673076		TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:65296848C>A	uc002sdl.3	+	2	484	c.270C>A	c.(268-270)CCC>CCA	p.P90P	CEP68_uc002sdj.2_Silent_p.P90P|CEP68_uc010yqb.1_Silent_p.P90P|CEP68_uc002sdk.3_Silent_p.P90P|CEP68_uc010yqc.1_Silent_p.P90P|CEP68_uc010yqd.1_Silent_p.P90P	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	90					centrosome organization	centrosome				skin(1)	1																		---	---	---	---	capture		Silent	SNP	65296848	65296848	3391	2	C	A	A	23	23	CEP68	A	1	1
LRRTM1	347730	broad.mit.edu	37	2	80530055	80530055	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:80530055G>T	uc002sok.1	-	2	1160	c.890C>A	c.(889-891)CCC>CAC	p.P297H	CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	297	LRR 9.|Lumenal (Potential).					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5															HNSCC(69;0.2)			---	---	---	---	capture		Missense_Mutation	SNP	80530055	80530055	9415	2	G	T	T	43	43	LRRTM1	T	2	2
LRP1B	53353	broad.mit.edu	37	2	141299491	141299491	+	Missense_Mutation	SNP	T	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:141299491T>A	uc002tvj.1	-	44	8216	c.7244A>T	c.(7243-7245)GAC>GTC	p.D2415V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	low density lipoprotein-related protein 1B	2415	Extracellular (Potential).|LDL-receptor class B 26.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)											TSP Lung(27;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	141299491	141299491	9328	2	T	A	A	58	58	LRP1B	A	4	4
PDE11A	50940	broad.mit.edu	37	2	178936319	178936319	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:178936319C>A	uc002ulq.2	-	1	1164	c.846G>T	c.(844-846)TGG>TGT	p.W282C	PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A isoform 4	282	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			ovary(3)|large_intestine(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)											Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial				---	---	---	---	capture		Missense_Mutation	SNP	178936319	178936319	12052	2	C	A	A	22	22	PDE11A	A	2	2
TTN	7273	broad.mit.edu	37	2	179495591	179495591	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179495591G>C	uc010zfg.1	-	187	36614	c.36390C>G	c.(36388-36390)ATC>ATG	p.I12130M	TTN_uc010zfh.1_Missense_Mutation_p.I5825M|TTN_uc010zfi.1_Missense_Mutation_p.I5758M|TTN_uc010zfj.1_Missense_Mutation_p.I5633M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	13057							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	179495591	179495591	17290	2	G	C	C	33	33	TTN	C	3	3
FAM171B	165215	broad.mit.edu	37	2	187627145	187627145	+	Silent	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:187627145G>C	uc002ups.2	+	8	2188	c.2076G>C	c.(2074-2076)CTG>CTC	p.L692L	FAM171B_uc002upr.1_Silent_p.L659L|FAM171B_uc002upt.2_Silent_p.L161L	NM_177454	NP_803237	Q6P995	F171B_HUMAN	KIAA1946	692	Cytoplasmic (Potential).					integral to membrane	DNA binding			ovary(6)|breast(3)|central_nervous_system(1)	10																		---	---	---	---	capture		Silent	SNP	187627145	187627145	5697	2	G	C	C	45	45	FAM171B	C	3	3
ASNSD1	54529	broad.mit.edu	37	2	190530930	190530930	+	Silent	SNP	A	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190530930A>G	uc002uqt.2	+	4	506	c.72A>G	c.(70-72)CTA>CTG	p.L24L		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	24	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			ovary(2)|skin(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)															---	---	---	---	capture		Silent	SNP	190530930	190530930	1068	2	A	G	G	16	16	ASNSD1	G	4	4
ANKAR	150709	broad.mit.edu	37	2	190569878	190569878	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:190569878A>G	uc002uqw.1	+	7	1625	c.1625A>G	c.(1624-1626)TAT>TGT	p.Y542C	ANKAR_uc002uqu.2_RNA	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	613	ANK 3.					integral to membrane	binding			ovary(2)|pancreas(1)|skin(1)	4			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)															---	---	---	---	capture		Missense_Mutation	SNP	190569878	190569878	626	2	A	G	G	16	16	ANKAR	G	4	4
DNAH7	56171	broad.mit.edu	37	2	196756523	196756523	+	Silent	SNP	T	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:196756523T>G	uc002utj.3	-	31	5003	c.4902A>C	c.(4900-4902)CTA>CTC	p.L1634L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1634	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			skin(10)|ovary(2)	12																		---	---	---	---	capture		Silent	SNP	196756523	196756523	4789	2	T	G	G	61	61	DNAH7	G	4	4
CCDC150	284992	broad.mit.edu	37	2	197530317	197530317	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:197530317G>T	uc002utp.1	+	6	807	c.672G>T	c.(670-672)AAG>AAT	p.K224N	CCDC150_uc002uto.1_Missense_Mutation_p.K224N|CCDC150_uc010zgq.1_Intron|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	224	Potential.										0																		---	---	---	---	capture		Missense_Mutation	SNP	197530317	197530317	2905	2	G	T	T	36	36	CCDC150	T	2	2
AOX1	316	broad.mit.edu	37	2	201515882	201515882	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:201515882C>A	uc002uvx.2	+	26	3134	c.3033C>A	c.(3031-3033)CCC>CCA	p.P1011P	AOX1_uc010zhf.1_Silent_p.P567P|AOX1_uc010fsu.2_Silent_p.P377P	NM_001159	NP_001150	Q06278	ADO_HUMAN	aldehyde oxidase 1	1011					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			ovary(4)|pancreas(1)|skin(1)	6					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)													---	---	---	---	capture		Silent	SNP	201515882	201515882	739	2	C	A	A	22	22	AOX1	A	2	2
BARD1	580	broad.mit.edu	37	2	215632303	215632303	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:215632303C>A	uc002veu.2	-	6	1606	c.1471G>T	c.(1471-1473)GGG>TGG	p.G491W	BARD1_uc010zjm.1_Missense_Mutation_p.G347W	NM_000465	NP_000456	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	491	ANK 2.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			lung(2)	2		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)										Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome				---	---	---	---	capture		Missense_Mutation	SNP	215632303	215632303	1333	2	C	A	A	23	23	BARD1	A	1	1
TUBA4A	7277	broad.mit.edu	37	2	220115571	220115571	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220115571C>A	uc002vkt.1	-	4	908	c.850G>T	c.(850-852)GAG>TAG	p.E284*	TUBA4A_uc010zkz.1_Nonsense_Mutation_p.E269*|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	tubulin, alpha 4a	284					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			ovary(3)	3		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)														---	---	---	---	capture		Nonsense_Mutation	SNP	220115571	220115571	17304	2	C	A	A	31	31	TUBA4A	A	5	1
MOGAT1	116255	broad.mit.edu	37	2	223559869	223559869	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223559869C>A	uc010fws.1	+	5	763	c.715C>A	c.(715-717)CCT>ACT	p.P239T	MOGAT1_uc010fwt.1_Missense_Mutation_p.P199T	NM_058165	NP_477513	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	239					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)	1		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)														---	---	---	---	capture		Missense_Mutation	SNP	223559869	223559869	10085	2	C	A	A	22	22	MOGAT1	A	2	2
B3GNT7	93010	broad.mit.edu	37	2	232263047	232263047	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:232263047G>T	uc002vrs.2	+	2	797	c.617G>T	c.(616-618)TGG>TTG	p.W206L		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal	206	Lumenal (Potential).				protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity				0		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)														---	---	---	---	capture		Missense_Mutation	SNP	232263047	232263047	1283	2	G	T	T	47	47	B3GNT7	T	2	2
ING5	84289	broad.mit.edu	37	2	242662685	242662685	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242662685T>C	uc002wcd.2	+	7	704	c.679T>C	c.(679-681)TGG>CGG	p.W227R		NM_032329	NP_115705	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	227	PHD-type.				DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)														---	---	---	---	capture		Missense_Mutation	SNP	242662685	242662685	8040	2	T	C	C	51	51	ING5	C	4	4
NEU4	129807	broad.mit.edu	37	2	242755806	242755806	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:242755806A>G	uc010fzr.2	+	2	211	c.125A>G	c.(124-126)CAG>CGG	p.Q42R	NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.Q42R|NEU4_uc002wcn.1_Missense_Mutation_p.Q54R|NEU4_uc002wco.1_Missense_Mutation_p.Q42R|NEU4_uc002wcp.1_Missense_Mutation_p.Q54R	NM_080741	NP_542779	Q8WWR8	NEUR4_HUMAN	sialidase 4	42						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding				0		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;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;0.0825)														---	---	---	---	capture		Missense_Mutation	SNP	242755806	242755806	10743	2	A	G	G	7	7	NEU4	G	4	4
RBCK1	10616	broad.mit.edu	37	20	409639	409639	+	Silent	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:409639G>A	uc002wdp.3	+	11	2046	c.1353G>A	c.(1351-1353)CAG>CAA	p.Q451Q	RBCK1_uc002wdq.3_Silent_p.Q409Q|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Silent_p.Q281Q	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing	451	IBR-type 2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding				0		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)																---	---	---	---	capture		Silent	SNP	409639	409639	13568	20	G	A	A	33	33	RBCK1	A	2	2
CSNK2A1	1457	broad.mit.edu	37	20	476423	476423	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:476423C>A	uc002wdw.1	-	8	843	c.450G>T	c.(448-450)ATG>ATT	p.M150I	CSNK2A1_uc002wdx.1_Missense_Mutation_p.M150I|CSNK2A1_uc002wdy.1_Missense_Mutation_p.M14I	NM_177559	NP_808227	P68400	CSK21_HUMAN	casein kinase II alpha 1 subunit isoform a	150	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			ovary(1)	1		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)															---	---	---	---	capture		Missense_Mutation	SNP	476423	476423	4098	20	C	A	A	21	21	CSNK2A1	A	2	2
C20orf194	25943	broad.mit.edu	37	20	3268434	3268434	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3268434C>A	uc002wii.2	-	27	2381	c.2330G>T	c.(2329-2331)TGG>TTG	p.W777L	C20orf194_uc002wij.3_Missense_Mutation_p.W516L|C20orf194_uc002wik.2_Missense_Mutation_p.W451L	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	hypothetical protein LOC25943	777											0																		---	---	---	---	capture		Missense_Mutation	SNP	3268434	3268434	2177	20	C	A	A	21	21	C20orf194	A	2	2
ATRN	8455	broad.mit.edu	37	20	3559339	3559339	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:3559339C>A	uc002wim.2	+	15	2554	c.2464C>A	c.(2464-2466)CTT>ATT	p.L822I	ATRN_uc002wil.2_Missense_Mutation_p.L822I	NM_139321	NP_647537	O75882	ATRN_HUMAN	attractin isoform 1	822	Extracellular (Potential).|C-type lectin.				inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			ovary(1)|breast(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	3559339	3559339	1225	20	C	A	A	24	24	ATRN	A	2	2
MACROD2	140733	broad.mit.edu	37	20	13982995	13982995	+	Silent	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:13982995C>T	uc002wou.2	+	2	372	c.108C>T	c.(106-108)CCC>CCT	p.P36P	MACROD2_uc002wot.2_Silent_p.P36P|MACROD2_uc002wos.2_RNA	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1	36											0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)																---	---	---	---	capture		Silent	SNP	13982995	13982995	9523	20	C	T	T	22	22	MACROD2	T	2	2
NINL	22981	broad.mit.edu	37	20	25462703	25462703	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:25462703C>G	uc002wux.1	-	14	1785	c.1711G>C	c.(1711-1713)GAG>CAG	p.E571Q	NINL_uc010gdn.1_Missense_Mutation_p.E571Q|NINL_uc010gdo.1_Missense_Mutation_p.E354Q	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	ninein-like	571	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	25462703	25462703	10821	20	C	G	G	29	29	NINL	G	3	3
TPX2	22974	broad.mit.edu	37	20	30381724	30381724	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30381724C>A	uc002wwp.1	+	14	2281	c.1583C>A	c.(1582-1584)CCA>CAA	p.P528Q	TPX2_uc010gdv.1_Missense_Mutation_p.P564Q	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated protein homolog	528					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			large_intestine(1)|ovary(1)	2			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)															---	---	---	---	capture		Missense_Mutation	SNP	30381724	30381724	16976	20	C	A	A	21	21	TPX2	A	2	2
XKR7	343702	broad.mit.edu	37	20	30585219	30585219	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30585219G>T	uc002wxe.2	+	3	1873	c.1699G>T	c.(1699-1701)GGG>TGG	p.G567W		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related	567						integral to membrane				ovary(1)|breast(1)|skin(1)	3			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)															---	---	---	---	capture		Missense_Mutation	SNP	30585219	30585219	18017	20	G	T	T	43	43	XKR7	T	2	2
HCK	3055	broad.mit.edu	37	20	30672260	30672260	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30672260G>T	uc002wxh.2	+	8	920	c.749G>T	c.(748-750)TGG>TTG	p.W250L	HCK_uc010gdy.2_Missense_Mutation_p.W229L|HCK_uc002wxi.2_Missense_Mutation_p.W228L	NM_002110	NP_002101	P08631	HCK_HUMAN	hemopoietic cell kinase isoform p61HCK	250					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1)	9			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)															---	---	---	---	capture		Missense_Mutation	SNP	30672260	30672260	7276	20	G	T	T	47	47	HCK	T	2	2
ASXL1	171023	broad.mit.edu	37	20	31019145	31019145	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31019145G>T	uc002wxs.2	+	8	1166	c.740G>T	c.(739-741)GGG>GTG	p.G247V	ASXL1_uc010geb.2_Missense_Mutation_p.G138V	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 isoform 1	247					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(239)|large_intestine(6)|central_nervous_system(2)|ovary(1)	248								F|N|Mis		MDS|CMML								---	---	---	---	capture		Missense_Mutation	SNP	31019145	31019145	1085	20	G	T	T	43	43	ASXL1	T	2	2
PLUNC	51297	broad.mit.edu	37	20	31825966	31825966	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:31825966G>T	uc002wyv.2	+	3	336	c.266G>T	c.(265-267)GGG>GTG	p.G89V	PLUNC_uc002wyt.3_Missense_Mutation_p.G89V|PLUNC_uc002wyu.3_Missense_Mutation_p.G89V	NM_130852	NP_570913	Q9NP55	PLUNC_HUMAN	palate, lung and nasal epithelium associated	89					innate immune response	extracellular region	lipid binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	31825966	31825966	12541	20	G	T	T	43	43	PLUNC	T	2	2
TRPC4AP	26133	broad.mit.edu	37	20	33593519	33593519	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33593519C>G	uc002xbk.2	-	16	1949	c.1915G>C	c.(1915-1917)GAA>CAA	p.E639Q	TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Missense_Mutation_p.E230Q|TRPC4AP_uc002xbl.2_Missense_Mutation_p.E631Q|TRPC4AP_uc010zur.1_Missense_Mutation_p.E600Q	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	639					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)															---	---	---	---	capture		Missense_Mutation	SNP	33593519	33593519	17132	20	C	G	G	29	29	TRPC4AP	G	3	3
TRPC4AP	26133	broad.mit.edu	37	20	33593586	33593586	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33593586C>G	uc002xbk.2	-	16	1882	c.1848G>C	c.(1846-1848)CAG>CAC	p.Q616H	TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Missense_Mutation_p.Q207H|TRPC4AP_uc002xbl.2_Missense_Mutation_p.Q608H|TRPC4AP_uc010zur.1_Missense_Mutation_p.Q577H	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	TRPC4-associated protein isoform a	616					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			central_nervous_system(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(18;0.00936)															---	---	---	---	capture		Missense_Mutation	SNP	33593586	33593586	17132	20	C	G	G	32	32	TRPC4AP	G	3	3
UQCC	55245	broad.mit.edu	37	20	33981917	33981917	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:33981917C>A	uc002xcd.2	-	2	174	c.107G>T	c.(106-108)AGG>ATG	p.R36M	UQCC_uc010zuy.1_Translation_Start_Site|UQCC_uc010zuz.1_Intron|UQCC_uc010zva.1_Missense_Mutation_p.R36M|UQCC_uc002xce.2_Missense_Mutation_p.R36M|UQCC_uc002xcg.2_Translation_Start_Site|UQCC_uc010gfb.2_Missense_Mutation_p.R36M|UQCC_uc010zvb.1_Missense_Mutation_p.R36M|UQCC_uc002xcf.2_Missense_Mutation_p.Q16H|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_Translation_Start_Site|UQCC_uc010gfd.1_Missense_Mutation_p.Q16H	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	basic FGF-repressed Zic binding protein isoform	36						cytoplasmic membrane-bounded vesicle				breast(1)	1			BRCA - Breast invasive adenocarcinoma(18;0.00252)															---	---	---	---	capture		Missense_Mutation	SNP	33981917	33981917	17576	20	C	A	A	24	24	UQCC	A	2	2
CEP250	11190	broad.mit.edu	37	20	34063422	34063422	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34063422G>T	uc002xcm.2	+	16	2338	c.1667G>T	c.(1666-1668)GGG>GTG	p.G556V	CEP250_uc010zve.1_5'UTR|CEP250_uc010zvd.1_Intron	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	centrosomal protein 2	556	Gln/Glu-rich.|Potential.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			ovary(4)|central_nervous_system(1)	5	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)															---	---	---	---	capture		Missense_Mutation	SNP	34063422	34063422	3385	20	G	T	T	43	43	CEP250	T	2	2
NDRG3	57446	broad.mit.edu	37	20	35293671	35293671	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:35293671C>A	uc002xfw.2	-	11	808	c.726G>T	c.(724-726)CTG>CTT	p.L242L	NDRG3_uc002xfx.2_Silent_p.L230L|NDRG3_uc010zvq.1_Silent_p.L147L|NDRG3_uc010zvr.1_Silent_p.L130L	NM_032013	NP_114402	Q9UGV2	NDRG3_HUMAN	N-myc downstream regulated gene 3 isoform a	242					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				ovary(1)	1		Myeloproliferative disorder(115;0.00878)																---	---	---	---	capture		Silent	SNP	35293671	35293671	10652	20	C	A	A	21	21	NDRG3	A	2	2
COL9A3	1299	broad.mit.edu	37	20	61460814	61460814	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:61460814C>A	uc002ydm.2	+	20	1019	c.1016C>A	c.(1015-1017)CCT>CAT	p.P339H		NM_001853	NP_001844	Q14050	CO9A3_HUMAN	alpha 3 type IX collagen precursor	339	Triple-helical region 3 (COL3).				axon guidance	collagen type IX					0	Breast(26;5.68e-08)																	---	---	---	---	capture		Missense_Mutation	SNP	61460814	61460814	3847	20	C	A	A	24	24	COL9A3	A	2	2
TPTE	7179	broad.mit.edu	37	21	10942775	10942775	+	Splice_Site	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:10942775C>A	uc002yip.1	-	13	1035	c.667_splice	c.e13-1	p.V223_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.V205_splice|TPTE_uc002yir.1_Splice_Site_p.V185_splice|TPTE_uc010gkv.1_Splice_Site_p.V85_splice	NM_199261	NP_954870			transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)														---	---	---	---	capture		Splice_Site	SNP	10942775	10942775	16974	21	C	A	A	24	24	TPTE	A	5	2
DONSON	29980	broad.mit.edu	37	21	34956954	34956954	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:34956954C>T	uc002ysk.2	-	4	794	c.727G>A	c.(727-729)GGA>AGA	p.G243R	DONSON_uc002ysn.1_Missense_Mutation_p.G126R|DONSON_uc002ysi.1_Missense_Mutation_p.G3R|DONSON_uc002ysj.2_5'UTR|DONSON_uc002ysl.2_5'UTR|DONSON_uc010gme.2_Missense_Mutation_p.G216R|DONSON_uc002ysm.2_Missense_Mutation_p.G243R	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	243					multicellular organismal development	nucleus				ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	34956954	34956954	4890	21	C	T	T	21	21	DONSON	T	2	2
BRWD1	54014	broad.mit.edu	37	21	40572204	40572204	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40572204C>A	uc002yxk.1	-	39	4833	c.4694G>T	c.(4693-4695)GGG>GTG	p.G1565V	BRWD1_uc010goc.1_Missense_Mutation_p.G208V|BRWD1_uc002yxl.2_Missense_Mutation_p.G1565V	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)																---	---	---	---	capture		Missense_Mutation	SNP	40572204	40572204	1556	21	C	A	A	22	22	BRWD1	A	2	2
BRWD1	54014	broad.mit.edu	37	21	40665832	40665832	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:40665832C>A	uc002yxk.1	-	8	875	c.736G>T	c.(736-738)GGG>TGG	p.G246W	BRWD1_uc002yxl.2_Missense_Mutation_p.G246W	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	246	WD 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				skin(3)|ovary(1)	4		Prostate(19;8.44e-08)|all_epithelial(19;0.223)																---	---	---	---	capture		Missense_Mutation	SNP	40665832	40665832	1556	21	C	A	A	22	22	BRWD1	A	2	2
OR11H1	81061	broad.mit.edu	37	22	16449063	16449063	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:16449063C>A	uc011agd.1	-	1	742	c.742G>T	c.(742-744)GGG>TGG	p.G248W		NM_001005239	NP_001005239	Q8NG94	O11H1_HUMAN	olfactory receptor, family 11, subfamily H,	248	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.208)		Kidney(3;0.00216)|KIRC - Kidney renal clear cell carcinoma(3;0.00244)|Lung(27;0.0724)|COAD - Colon adenocarcinoma(3;0.211)														---	---	---	---	capture		Missense_Mutation	SNP	16449063	16449063	11332	22	C	A	A	21	21	OR11H1	A	2	2
SNAP29	9342	broad.mit.edu	37	22	21224807	21224807	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21224807C>A	uc011ahw.1	+	2	527	c.420C>A	c.(418-420)TCC>TCA	p.S140S		NM_004782	NP_004773	O95721	SNP29_HUMAN	synaptosomal-associated protein 29	140					cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity				0	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)															---	---	---	---	capture		Silent	SNP	21224807	21224807	15331	22	C	A	A	22	22	SNAP29	A	2	2
AP1B1	162	broad.mit.edu	37	22	29727776	29727776	+	Silent	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29727776C>T	uc003afj.2	-	18	2623	c.2439G>A	c.(2437-2439)CAG>CAA	p.Q813Q	AP1B1_uc003afi.2_Silent_p.Q806Q|AP1B1_uc003afk.2_Silent_p.Q806Q|AP1B1_uc003afl.2_Silent_p.Q786Q|AP1B1_uc003afh.2_Silent_p.Q10Q|AP1B1_uc011ako.1_Silent_p.Q366Q	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1 beta 1 subunit	813					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	29727776	29727776	741	22	C	T	T	24	24	AP1B1	T	2	2
TRIOBP	11078	broad.mit.edu	37	22	38121252	38121252	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38121252C>T	uc003atr.2	+	7	2960	c.2689C>T	c.(2689-2691)CCC>TCC	p.P897S	TRIOBP_uc003atu.2_Missense_Mutation_p.P725S|TRIOBP_uc003atq.1_Missense_Mutation_p.P897S|TRIOBP_uc003ats.1_Missense_Mutation_p.P725S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein isoform 6	897					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	38121252	38121252	17103	22	C	T	T	30	30	TRIOBP	T	2	2
POLR3H	171568	broad.mit.edu	37	22	41936785	41936785	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:41936785C>A	uc003baf.2	-	3	186	c.126G>T	c.(124-126)GTG>GTT	p.V42V	POLR3H_uc003bae.2_RNA|POLR3H_uc003bag.2_Silent_p.V42V|POLR3H_uc003bai.2_Silent_p.V42V|POLR3H_uc003baj.1_Silent_p.V42V	NM_138338	NP_612211	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide	42					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			skin(1)	1																		---	---	---	---	capture		Silent	SNP	41936785	41936785	12664	22	C	A	A	21	21	POLR3H	A	2	2
SEPT3	55964	broad.mit.edu	37	22	42383754	42383754	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42383754C>A	uc003bbr.3	+	5	680	c.542C>A	c.(541-543)ACA>AAA	p.T181K	WBP2NL_uc011ape.1_Intron|SEPT3_uc003bbs.3_Missense_Mutation_p.T181K|SEPT3_uc010gyr.2_Missense_Mutation_p.T117K|SEPT3_uc011apj.1_Missense_Mutation_p.T117K|SEPT3_uc010gys.2_5'UTR	NM_145733	NP_663786	Q9UH03	SEPT3_HUMAN	septin 3 isoform A	181					cell cycle|cytokinesis	cell junction|septin complex	GTP binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	42383754	42383754	14551	22	C	A	A	17	17	SEPT3	A	2	2
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45198006	45198006	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45198006G>T	uc003bfd.2	+	9	1163	c.891G>T	c.(889-891)ATG>ATT	p.M297I	PRR5-ARHGAP8_uc003bfc.2_Missense_Mutation_p.M174I|PRR5-ARHGAP8_uc011aqi.1_Missense_Mutation_p.M165I|PRR5-ARHGAP8_uc011aqj.1_Missense_Mutation_p.M79I|ARHGAP8_uc003bfi.2_Missense_Mutation_p.M43I|ARHGAP8_uc010gzv.2_Missense_Mutation_p.M43I|ARHGAP8_uc003bfj.2_Missense_Mutation_p.M43I|ARHGAP8_uc003bfk.2_Missense_Mutation_p.M43I|ARHGAP8_uc003bfl.2_Intron|PRR5-ARHGAP8_uc003bfg.1_Missense_Mutation_p.M79I	NM_181335	NP_851852			Rho GTPase activating protein 8 isoform 2											skin(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	45198006	45198006	13050	22	G	T	T	46	46	PRR5-ARHGAP8	T	2	2
FAM118A	55007	broad.mit.edu	37	22	45728520	45728520	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:45728520G>T	uc003bfz.3	+	7	1482	c.866G>T	c.(865-867)GGG>GTG	p.G289V	FAM118A_uc003bga.3_Missense_Mutation_p.G289V|FAM118A_uc011aqr.1_Missense_Mutation_p.G107V	NM_001104595	NP_001098065	Q9NWS6	F118A_HUMAN	hypothetical protein LOC55007	289						integral to membrane					0		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)														---	---	---	---	capture		Missense_Mutation	SNP	45728520	45728520	5608	22	G	T	T	43	43	FAM118A	T	2	2
FAM116B	414918	broad.mit.edu	37	22	50754502	50754502	+	Silent	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50754502G>A	uc011aru.1	-	9	726	c.654C>T	c.(652-654)TCC>TCT	p.S218S	FAM116B_uc011arv.1_Silent_p.S218S	NM_001001794	NP_001001794	Q8NEG7	F116B_HUMAN	family with sequence similarity 116, member B	218											0		all_cancers(38;4.34e-09)|all_epithelial(38;3.03e-08)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)														---	---	---	---	capture		Silent	SNP	50754502	50754502	5605	22	G	A	A	47	47	FAM116B	A	2	2
IRAK2	3656	broad.mit.edu	37	3	10276202	10276202	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:10276202G>T	uc003bve.1	+	11	1408	c.1332G>T	c.(1330-1332)ACG>ACT	p.T444T		NM_001570	NP_001561	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	444	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			lung(5)|breast(3)	8																		---	---	---	---	capture		Silent	SNP	10276202	10276202	8126	3	G	T	T	39	39	IRAK2	T	1	1
EFHB	151651	broad.mit.edu	37	3	19924172	19924172	+	Missense_Mutation	SNP	C	T	T	rs149572350	byFrequency	TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:19924172C>T	uc003cbl.3	-	12	2394	c.2198G>A	c.(2197-2199)CGA>CAA	p.R733Q	EFHB_uc003cbm.2_Missense_Mutation_p.R603Q	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	EF hand domain family, member B	733					signal transduction	proteinaceous extracellular matrix	calcium ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	19924172	19924172	5133	3	C	T	T	31	31	EFHB	T	1	1
CSPG5	10675	broad.mit.edu	37	3	47618715	47618715	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:47618715G>T	uc003crp.3	-	2	977	c.801C>A	c.(799-801)CCC>CCA	p.P267P	CSPG5_uc003crn.2_Silent_p.P129P|CSPG5_uc003cro.3_Silent_p.P267P|CSPG5_uc011bbb.1_Silent_p.P129P	NM_006574	NP_006565	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan	267	Interaction with TNC and TNR (By similarity).|Extracellular (Potential).				cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			ovary(1)|central_nervous_system(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)														---	---	---	---	capture		Silent	SNP	47618715	47618715	4102	3	G	T	T	47	47	CSPG5	T	2	2
GRM2	2912	broad.mit.edu	37	3	51749755	51749755	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:51749755C>A	uc010hlv.2	+	4	2205	c.1966C>A	c.(1966-1968)CGC>AGC	p.R656S	GRM2_uc003dbo.3_Missense_Mutation_p.R38S|GRM2_uc010hlu.2_RNA	NM_000839	NP_000830	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2 isoform a	656	Cytoplasmic (Potential).				synaptic transmission	integral to plasma membrane				lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)													---	---	---	---	capture		Missense_Mutation	SNP	51749755	51749755	7076	3	C	A	A	23	23	GRM2	A	1	1
TWF2	11344	broad.mit.edu	37	3	52265552	52265552	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:52265552G>C	uc003ddd.2	-	4	437	c.286C>G	c.(286-288)CGG>GGG	p.R96G	TLR9_uc003ddb.2_5'Flank|TLR9_uc003ddc.1_5'Flank|TWF2_uc010hmc.2_Missense_Mutation_p.R96G	NM_007284	NP_009215	Q6IBS0	TWF2_HUMAN	twinfilin-like protein	96	ADF-H 1.					cytoskeleton|perinuclear region of cytoplasm	actin binding|ATP binding			stomach(1)|ovary(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;2.43e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)												OREG0015610	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture		Missense_Mutation	SNP	52265552	52265552	17338	3	G	C	C	38	38	TWF2	C	3	3
LRIG1	26018	broad.mit.edu	37	3	66430729	66430729	+	Silent	SNP	G	T	T	rs145550978	byFrequency	TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:66430729G>T	uc003dmx.2	-	19	3254	c.3240C>A	c.(3238-3240)CCC>CCA	p.P1080P	SLC25A26_uc011bft.1_RNA|LRIG1_uc011bfu.1_Silent_p.P700P|LRIG1_uc003dmw.2_Silent_p.P746P|LRIG1_uc010hnz.2_Silent_p.P796P|LRIG1_uc010hoa.2_Silent_p.P1057P	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like	1080	Cytoplasmic (Potential).					integral to membrane				skin(3)|ovary(2)	5		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)														---	---	---	---	capture		Silent	SNP	66430729	66430729	9317	3	G	T	T	39	39	LRIG1	T	1	1
OR5AC2	81050	broad.mit.edu	37	3	97806719	97806719	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:97806719G>T	uc011bgs.1	+	1	703	c.703G>T	c.(703-705)GGC>TGC	p.G235C		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC,	235	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	97806719	97806719	11551	3	G	T	T	43	43	OR5AC2	T	2	2
OR5K4	403278	broad.mit.edu	37	3	98072817	98072817	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98072817G>T	uc011bgv.1	+	1	120	c.120G>T	c.(118-120)GTG>GTT	p.V40V		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K,	40	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1																		---	---	---	---	capture		Silent	SNP	98072817	98072817	11579	3	G	T	T	47	47	OR5K4	T	2	2
DCBLD2	131566	broad.mit.edu	37	3	98518583	98518583	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:98518583G>T	uc003dtd.2	-	16	2324	c.1961C>A	c.(1960-1962)CCT>CAT	p.P654H	DCBLD2_uc003dte.2_Missense_Mutation_p.P668H	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	654	Cytoplasmic (Potential).				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				ovary(2)|central_nervous_system(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	98518583	98518583	4452	3	G	T	T	35	35	DCBLD2	T	2	2
BTLA	151888	broad.mit.edu	37	3	112198390	112198390	+	Silent	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:112198390C>G	uc003dza.3	-	2	518	c.315G>C	c.(313-315)GTG>GTC	p.V105V	BTLA_uc003dzb.3_Silent_p.V105V	NM_181780	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated isoform 1	105	Ig-like V-type.|Extracellular (Potential).			V -> M (in Ref. 1; AAP44003).	T cell costimulation		receptor activity				0		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)																---	---	---	---	capture		Silent	SNP	112198390	112198390	1592	3	C	G	G	25	25	BTLA	G	3	3
ATP6V1A	523	broad.mit.edu	37	3	113524215	113524215	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:113524215A>G	uc003eao.2	+	14	1670	c.1604A>G	c.(1603-1605)TAC>TGC	p.Y535C	ATP6V1A_uc011bik.1_Missense_Mutation_p.Y502C	NM_001690	NP_001681	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal V1 subunit A	535					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			ovary(2)|skin(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	113524215	113524215	1196	3	A	G	G	14	14	ATP6V1A	G	4	4
POLQ	10721	broad.mit.edu	37	3	121238841	121238841	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121238841C>A	uc003eee.3	-	9	1474	c.1345G>T	c.(1345-1347)GGG>TGG	p.G449W		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	DNA polymerase theta	449	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.0915)									DNA_polymerases_(catalytic_subunits)					---	---	---	---	capture		Missense_Mutation	SNP	121238841	121238841	12636	3	C	A	A	21	21	POLQ	A	2	2
IQCB1	9657	broad.mit.edu	37	3	121489331	121489331	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121489331T>C	uc010hre.1	-	15	1873	c.1658A>G	c.(1657-1659)CAT>CGT	p.H553R	IQCB1_uc003eek.2_Missense_Mutation_p.H420R|IQCB1_uc010hrf.1_RNA	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	553					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)														---	---	---	---	capture		Missense_Mutation	SNP	121489331	121489331	8104	3	T	C	C	51	51	IQCB1	C	4	4
IQCB1	9657	broad.mit.edu	37	3	121516042	121516042	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:121516042C>A	uc010hre.1	-	9	1014	c.799G>T	c.(799-801)GGG>TGG	p.G267W	IQCB1_uc003eek.2_Intron|IQCB1_uc010hrf.1_RNA	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	IQ motif containing B1 isoform a	267					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding				0				GBM - Glioblastoma multiforme(114;0.0983)														---	---	---	---	capture		Missense_Mutation	SNP	121516042	121516042	8104	3	C	A	A	21	21	IQCB1	A	2	2
ITGB5	3693	broad.mit.edu	37	3	124492558	124492558	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124492558G>T	uc003eho.2	-	11	2192	c.1895C>A	c.(1894-1896)CCG>CAG	p.P632Q	ITGB5_uc010hrx.2_RNA|ITGB5_uc003ehp.1_RNA	NM_002213	NP_002204	P18084	ITB5_HUMAN	integrin, beta 5 precursor	632	Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			skin(2)	2				GBM - Glioblastoma multiforme(114;0.163)														---	---	---	---	capture		Missense_Mutation	SNP	124492558	124492558	8202	3	G	T	T	39	39	ITGB5	T	1	1
HEG1	57493	broad.mit.edu	37	3	124738345	124738345	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124738345C>A	uc003ehs.3	-	5	1417	c.1349G>T	c.(1348-1350)AGA>ATA	p.R450I	HEG1_uc011bke.1_Missense_Mutation_p.R450I	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	450	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	124738345	124738345	7327	3	C	A	A	32	32	HEG1	A	2	2
RUVBL1	8607	broad.mit.edu	37	3	127819441	127819441	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:127819441G>T	uc003ekh.2	-	6	854	c.750C>A	c.(748-750)CCC>CCA	p.P250P	RUVBL1_uc003eke.2_5'UTR|RUVBL1_uc003ekf.2_Silent_p.P190P|RUVBL1_uc010hss.2_Silent_p.P250P	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	RuvB-like 1	250					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			skin(1)	1				GBM - Glioblastoma multiforme(114;0.181)														---	---	---	---	capture		Silent	SNP	127819441	127819441	14232	3	G	T	T	43	43	RUVBL1	T	2	2
COL6A6	131873	broad.mit.edu	37	3	130305389	130305389	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130305389C>T	uc010htl.2	+	10	4041	c.4010C>T	c.(4009-4011)GCT>GTT	p.A1337V	COL6A6_uc003eni.3_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	1337	VWFA 7.|Nonhelical region.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	130305389	130305389	3841	3	C	T	T	28	28	COL6A6	T	2	2
ESYT3	83850	broad.mit.edu	37	3	138189849	138189849	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138189849C>T	uc003esk.2	+	17	1947	c.1721C>T	c.(1720-1722)TCC>TTC	p.S574F	ESYT3_uc010hug.2_RNA	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	family with sequence similarity 62 (C2 domain	574						integral to membrane|plasma membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	138189849	138189849	5459	3	C	T	T	30	30	ESYT3	T	2	2
PLCH1	23007	broad.mit.edu	37	3	155208639	155208639	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:155208639C>G	uc011bok.1	-	18	2567	c.2290G>C	c.(2290-2292)GAA>CAA	p.E764Q	PLCH1_uc011boj.1_Missense_Mutation_p.E764Q|PLCH1_uc011bol.1_Missense_Mutation_p.E746Q	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	phospholipase C eta 1 isoform a	764	C2.				lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			skin(3)|ovary(1)	4			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)															---	---	---	---	capture		Missense_Mutation	SNP	155208639	155208639	12463	3	C	G	G	29	29	PLCH1	G	3	3
SAMD7	344658	broad.mit.edu	37	3	169644839	169644839	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:169644839G>T	uc003fgd.2	+	6	1056	c.789G>T	c.(787-789)TGG>TGT	p.W263C	SAMD7_uc003fge.2_Missense_Mutation_p.W263C|SAMD7_uc011bpo.1_Missense_Mutation_p.W164C	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	263										skin(1)	1	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)															---	---	---	---	capture		Missense_Mutation	SNP	169644839	169644839	14304	3	G	T	T	43	43	SAMD7	T	2	2
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	A	A	rs104886003		TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178936091G>A	uc003fjk.2	+	10	1790	c.1633G>A	c.(1633-1635)GAG>AAG	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	545	PI3K helical.		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			---	---	---	---	capture		Missense_Mutation	SNP	178936091	178936091	12337	3	G	A	A	45	45	PIK3CA	A	2	2
KCNMB3	27094	broad.mit.edu	37	3	178968562	178968562	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:178968562C>A	uc003fjm.2	-	2	741	c.229G>T	c.(229-231)GGA>TGA	p.G77*	KCNMB3_uc003fjl.3_RNA|KCNMB3_uc011bqc.1_Nonsense_Mutation_p.G75*|KCNMB3_uc003fjn.2_Nonsense_Mutation_p.G73*|KCNMB3_uc003fjo.2_Nonsense_Mutation_p.G55*|KCNMB3_uc003fjp.1_Nonsense_Mutation_p.G75*	NM_014407	NP_055222	Q9NPA1	KCMB3_HUMAN	calcium-activated potassium channel beta 3	77	Helical; Name=1; (Potential).				detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity				0	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)															---	---	---	---	capture		Nonsense_Mutation	SNP	178968562	178968562	8381	3	C	A	A	23	23	KCNMB3	A	5	1
MCCC1	56922	broad.mit.edu	37	3	182735083	182735083	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:182735083G>T	uc003fle.2	-	18	2157	c.2020C>A	c.(2020-2022)CTC>ATC	p.L674I	MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.L557I|MCCC1_uc003flg.2_Missense_Mutation_p.L565I	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	674	Biotinyl-binding.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)|skin(1)	3	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)													---	---	---	---	capture		Missense_Mutation	SNP	182735083	182735083	9763	3	G	T	T	35	35	MCCC1	T	2	2
LSG1	55341	broad.mit.edu	37	3	194379714	194379714	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:194379714C>G	uc003fui.2	-	7	1046	c.731G>C	c.(730-732)GGA>GCA	p.G244A		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	large subunit GTPase 1	244					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	194379714	194379714	9425	3	C	G	G	30	30	LSG1	G	3	3
WDR53	348793	broad.mit.edu	37	3	196281625	196281625	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:196281625C>A	uc003fwt.2	-	4	1005	c.534G>T	c.(532-534)CAG>CAT	p.Q178H		NM_182627	NP_872433	Q7Z5U6	WDR53_HUMAN	WD repeat domain 53	178										breast(1)|skin(1)	2	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.6e-23)|all cancers(36;1.54e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.29e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)														---	---	---	---	capture		Missense_Mutation	SNP	196281625	196281625	17878	3	C	A	A	24	24	WDR53	A	2	2
LRCH3	84859	broad.mit.edu	37	3	197592992	197592992	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197592992C>G	uc011bul.1	+	17	1780	c.1775C>G	c.(1774-1776)TCC>TGC	p.S592C	LRCH3_uc003fyj.1_Missense_Mutation_p.S592C|LRCH3_uc011bum.1_Missense_Mutation_p.S540C|LRCH3_uc011bun.1_Missense_Mutation_p.S438C|LRCH3_uc003fyk.2_Missense_Mutation_p.S187C	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH)	592						extracellular region				ovary(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)														---	---	---	---	capture		Missense_Mutation	SNP	197592992	197592992	9307	3	C	G	G	30	30	LRCH3	G	3	3
FAM193A	8603	broad.mit.edu	37	4	2701728	2701728	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:2701728C>A	uc010icl.2	+	17	3307	c.2956C>A	c.(2956-2958)CCA>ACA	p.P986T	FAM193A_uc010ick.2_Missense_Mutation_p.P1186T|FAM193A_uc003gfd.2_Missense_Mutation_p.P986T|FAM193A_uc011bvm.1_Missense_Mutation_p.P1008T|FAM193A_uc011bvn.1_Missense_Mutation_p.P986T|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Missense_Mutation_p.P840T	NM_003704	NP_003695	P78312	F193A_HUMAN	hypothetical protein LOC8603	986										ovary(3)	3																		---	---	---	---	capture		Missense_Mutation	SNP	2701728	2701728	5735	4	C	A	A	22	22	FAM193A	A	2	2
HTT	3064	broad.mit.edu	37	4	3208226	3208226	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3208226C>G	uc011bvq.1	+	44	5873	c.5728C>G	c.(5728-5730)CAG>GAG	p.Q1910E		NM_002111	NP_002102	P42858	HD_HUMAN	huntingtin	1908					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			skin(2)|ovary(1)|lung(1)	4		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)														---	---	---	---	capture		Missense_Mutation	SNP	3208226	3208226	7757	4	C	G	G	29	29	HTT	G	3	3
JAKMIP1	152789	broad.mit.edu	37	4	6043916	6043916	+	Silent	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:6043916G>A	uc010idb.1	-	17	2553	c.2067C>T	c.(2065-2067)ACC>ACT	p.T689T	JAKMIP1_uc010idc.1_Silent_p.T504T|JAKMIP1_uc010idd.1_Intron	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4																		---	---	---	---	capture		Silent	SNP	6043916	6043916	8244	4	G	A	A	43	43	JAKMIP1	A	2	2
BOD1L	259282	broad.mit.edu	37	4	13601318	13601318	+	Silent	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:13601318C>G	uc003gmz.1	-	10	7323	c.7206G>C	c.(7204-7206)GTG>GTC	p.V2402V	BOD1L_uc010idr.1_Silent_p.V1739V	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division	2402							DNA binding			ovary(5)|breast(1)	6																		---	---	---	---	capture		Silent	SNP	13601318	13601318	1508	4	C	G	G	29	29	BOD1L	G	3	3
LAP3	51056	broad.mit.edu	37	4	17590574	17590574	+	Silent	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:17590574T>C	uc003gph.1	+	7	999	c.837T>C	c.(835-837)TTT>TTC	p.F279F		NM_015907	NP_056991	P28838	AMPL_HUMAN	leucine aminopeptidase 3	279					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	17590574	17590574	8946	4	T	C	C	63	63	LAP3	C	4	4
SEPSECS	51091	broad.mit.edu	37	4	25160620	25160620	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:25160620C>A	uc003grg.2	-	2	437	c.224G>T	c.(223-225)AGG>ATG	p.R75M	uc003grj.2_5'Flank|PI4K2B_uc011bxs.1_5'Flank|SEPSECS_uc003gri.2_Missense_Mutation_p.R74M|SEPSECS_uc003grh.2_Intron	NM_153825	NP_722547	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine)	75					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding				0		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Missense_Mutation	SNP	25160620	25160620	14544	4	C	A	A	24	24	SEPSECS	A	2	2
TBC1D19	55296	broad.mit.edu	37	4	26667970	26667970	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:26667970G>T	uc003gsf.3	+	9	877	c.607G>T	c.(607-609)GAA>TAA	p.E203*	TBC1D19_uc010iew.2_Nonsense_Mutation_p.E203*|TBC1D19_uc011bxu.1_Nonsense_Mutation_p.E138*	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	203						intracellular	Rab GTPase activator activity			breast(1)	1		Breast(46;0.0503)																---	---	---	---	capture		Nonsense_Mutation	SNP	26667970	26667970	16129	4	G	T	T	41	41	TBC1D19	T	5	2
GNPDA2	132789	broad.mit.edu	37	4	44705119	44705119	+	Silent	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:44705119G>A	uc003gwy.2	-	7	967	c.810C>T	c.(808-810)TTC>TTT	p.F270F	GNPDA2_uc010iga.2_Silent_p.F236F|GNPDA2_uc011bzb.1_Silent_p.F200F	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	270					N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			ovary(1)	1																		---	---	---	---	capture		Silent	SNP	44705119	44705119	6812	4	G	A	A	45	45	GNPDA2	A	2	2
CLOCK	9575	broad.mit.edu	37	4	56316315	56316315	+	Missense_Mutation	SNP	A	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:56316315A>C	uc003haz.1	-	17	2217	c.1291T>G	c.(1291-1293)TCT>GCT	p.S431A	CLOCK_uc003hba.1_Missense_Mutation_p.S431A|CLOCK_uc010igu.1_5'Flank	NM_004898	NP_004889	O15516	CLOCK_HUMAN	clock	431					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(2)|ovary(1)	3	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)															---	---	---	---	capture		Missense_Mutation	SNP	56316315	56316315	3687	4	A	C	C	9	9	CLOCK	C	4	4
REST	5978	broad.mit.edu	37	4	57797217	57797217	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57797217G>T	uc003hch.2	+	4	2540	c.2193G>T	c.(2191-2193)ATG>ATT	p.M731I	REST_uc003hci.2_Missense_Mutation_p.M731I|REST_uc010ihf.2_Missense_Mutation_p.M405I	NM_005612	NP_005603	Q13127	REST_HUMAN	RE1-silencing transcription factor	731	Pro-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1)	9	Glioma(25;0.08)|all_neural(26;0.181)																	---	---	---	---	capture		Missense_Mutation	SNP	57797217	57797217	13704	4	G	T	T	47	47	REST	T	2	2
EPHA5	2044	broad.mit.edu	37	4	66270172	66270172	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:66270172G>T	uc003hcy.2	-	8	1903	c.1710C>A	c.(1708-1710)AGC>AGA	p.S570R	EPHA5_uc003hcx.2_Missense_Mutation_p.S502R|EPHA5_uc003hcz.2_Missense_Mutation_p.S570R|EPHA5_uc011cah.1_Missense_Mutation_p.S571R|EPHA5_uc011cai.1_Missense_Mutation_p.S571R|EPHA5_uc003hda.2_Missense_Mutation_p.S571R	NM_004439	NP_004430	P54756	EPHA5_HUMAN	ephrin receptor EphA5 isoform a precursor	570	Extracellular (Potential).				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24															TSP Lung(17;0.13)			---	---	---	---	capture		Missense_Mutation	SNP	66270172	66270172	5363	4	G	T	T	42	42	EPHA5	T	2	2
NPFFR2	10886	broad.mit.edu	37	4	72897640	72897640	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:72897640C>A	uc003hgg.2	+	1	120	c.22C>A	c.(22-24)CCA>ACA	p.P8T	NPFFR2_uc010iig.1_5'UTR	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2 isoform 1	8	Extracellular (Potential).				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			ovary(2)|central_nervous_system(1)	3			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)															---	---	---	---	capture		Missense_Mutation	SNP	72897640	72897640	10982	4	C	A	A	22	22	NPFFR2	A	2	2
CCDC158	339965	broad.mit.edu	37	4	77317574	77317574	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:77317574C>A	uc003hkb.3	-	3	289	c.136G>T	c.(136-138)GGG>TGG	p.G46W	CCDC158_uc003hkd.2_Missense_Mutation_p.G46W	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	46										skin(3)|ovary(2)|pancreas(1)	6																		---	---	---	---	capture		Missense_Mutation	SNP	77317574	77317574	2912	4	C	A	A	21	21	CCDC158	A	2	2
TACR3	6870	broad.mit.edu	37	4	104640772	104640772	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:104640772C>A	uc003hxe.1	-	1	204	c.61G>T	c.(61-63)GCC>TCC	p.A21S		NM_001059	NP_001050	P29371	NK3R_HUMAN	tachykinin receptor 3	21	Extracellular (Potential).					integral to plasma membrane	tachykinin receptor activity			ovary(3)|lung(2)|breast(1)|skin(1)	7		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)														---	---	---	---	capture		Missense_Mutation	SNP	104640772	104640772	16028	4	C	A	A	27	27	TACR3	A	1	1
NPNT	255743	broad.mit.edu	37	4	106861771	106861771	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106861771G>T	uc003hya.2	+	7	946	c.741G>T	c.(739-741)CAG>CAT	p.Q247H	NPNT_uc011cfc.1_Missense_Mutation_p.Q264H|NPNT_uc011cfd.1_Missense_Mutation_p.Q277H|NPNT_uc011cfe.1_Missense_Mutation_p.Q277H|NPNT_uc010ilt.1_Missense_Mutation_p.Q247H|NPNT_uc011cff.1_Missense_Mutation_p.Q247H|NPNT_uc010ilu.1_Missense_Mutation_p.Q143H	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	247	EGF-like 5; calcium-binding (Potential).				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)														---	---	---	---	capture		Missense_Mutation	SNP	106861771	106861771	10995	4	G	T	T	35	35	NPNT	T	2	2
ANK2	287	broad.mit.edu	37	4	114257120	114257120	+	Silent	SNP	A	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:114257120A>T	uc003ibe.3	+	30	3598	c.3498A>T	c.(3496-3498)CCA>CCT	p.P1166P	ANK2_uc003ibd.3_Silent_p.P1157P|ANK2_uc003ibf.3_Silent_p.P1166P|ANK2_uc011cgc.1_Silent_p.P342P|ANK2_uc003ibg.3_Silent_p.P161P|ANK2_uc003ibc.2_Silent_p.P1142P|ANK2_uc011cgb.1_Silent_p.P1181P	NM_001148	NP_001139	Q01484	ANK2_HUMAN	ankyrin 2 isoform 1	1133					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding			central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)														---	---	---	---	capture		Silent	SNP	114257120	114257120	624	4	A	T	T	7	7	ANK2	T	4	4
PRDM5	11107	broad.mit.edu	37	4	121828652	121828652	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:121828652T>C	uc003idn.2	-	2	404	c.154A>G	c.(154-156)ATG>GTG	p.M52V	PRDM5_uc003ido.2_Missense_Mutation_p.M52V|PRDM5_uc010ine.2_Missense_Mutation_p.M52V|PRDM5_uc010inf.2_Missense_Mutation_p.M52V|PRDM5_uc003idp.1_Missense_Mutation_p.M52V	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	52	SET.				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	121828652	121828652	12902	4	T	C	C	49	49	PRDM5	C	4	4
KIAA1109	84162	broad.mit.edu	37	4	123156042	123156042	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:123156042C>G	uc003ieh.2	+	25	3483	c.3438C>G	c.(3436-3438)TTC>TTG	p.F1146L	KIAA1109_uc003iei.1_Missense_Mutation_p.F899L|KIAA1109_uc010ins.1_Missense_Mutation_p.F489L	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	fragile site-associated protein	1146					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	123156042	123156042	8516	4	C	G	G	29	29	KIAA1109	G	3	3
PHF17	79960	broad.mit.edu	37	4	129767537	129767537	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:129767537G>T	uc003igk.2	+	4	426	c.146G>T	c.(145-147)AGG>ATG	p.R49M	PHF17_uc003igj.2_Missense_Mutation_p.R49M|PHF17_uc003igl.2_Missense_Mutation_p.R49M|PHF17_uc011cgy.1_Missense_Mutation_p.R49M|PHF17_uc003igm.2_Missense_Mutation_p.R49M	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	PHD finger protein 17 long isoform	49					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	129767537	129767537	12251	4	G	T	T	35	35	PHF17	T	2	2
PCDH18	54510	broad.mit.edu	37	4	138442602	138442602	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:138442602C>A	uc003ihe.3	-	4	3376	c.2989G>T	c.(2989-2991)GGG>TGG	p.G997W	PCDH18_uc003ihf.3_Missense_Mutation_p.G989W|PCDH18_uc011cgz.1_Missense_Mutation_p.G208W|PCDH18_uc003ihg.3_Missense_Mutation_p.G776W|PCDH18_uc011cha.1_Missense_Mutation_p.G177W	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	protocadherin 18 precursor	997	Interaction with DAB1 (By similarity).|Cytoplasmic (Potential).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			pancreas(3)|skin(2)	5	all_hematologic(180;0.24)																	---	---	---	---	capture		Missense_Mutation	SNP	138442602	138442602	11933	4	C	A	A	21	21	PCDH18	A	2	2
TBC1D9	23158	broad.mit.edu	37	4	141592024	141592024	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:141592024G>C	uc010ioj.2	-	7	1388	c.1116C>G	c.(1114-1116)ATC>ATG	p.I372M		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	372						intracellular	calcium ion binding|Rab GTPase activator activity			ovary(1)	1	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)																---	---	---	---	capture		Missense_Mutation	SNP	141592024	141592024	16153	4	G	C	C	45	45	TBC1D9	C	3	3
FHDC1	85462	broad.mit.edu	37	4	153893693	153893693	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:153893693G>T	uc003inf.2	+	10	1458	c.1383G>T	c.(1381-1383)AAG>AAT	p.K461N		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	461	FH2.				actin cytoskeleton organization		actin binding			large_intestine(1)|ovary(1)	2	all_hematologic(180;0.093)																	---	---	---	---	capture		Missense_Mutation	SNP	153893693	153893693	6114	4	G	T	T	35	35	FHDC1	T	2	2
RAPGEF2	9693	broad.mit.edu	37	4	160267955	160267955	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:160267955G>T	uc003iqg.3	+	19	3344	c.3034G>T	c.(3034-3036)GGT>TGT	p.G1012C		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor 2	1012					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			lung(2)|upper_aerodigestive_tract(1)|skin(1)	4	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)														---	---	---	---	capture		Missense_Mutation	SNP	160267955	160267955	13504	4	G	T	T	47	47	RAPGEF2	T	2	2
NEK1	4750	broad.mit.edu	37	4	170428227	170428227	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:170428227C>A	uc003isb.1	-	21	2376	c.1884G>T	c.(1882-1884)AAG>AAT	p.K628N	NEK1_uc003isc.1_Missense_Mutation_p.K584N|NEK1_uc003isd.1_Missense_Mutation_p.K656N|NEK1_uc003ise.1_Missense_Mutation_p.K612N|NEK1_uc003isf.1_Missense_Mutation_p.K559N	NM_012224	NP_036356	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	628					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			lung(3)|ovary(2)|large_intestine(1)	6		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)														---	---	---	---	capture		Missense_Mutation	SNP	170428227	170428227	10720	4	C	A	A	24	24	NEK1	A	2	2
ODZ3	55714	broad.mit.edu	37	4	183245358	183245358	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183245358G>A	uc003ivd.1	+	1	222	c.185G>A	c.(184-186)AGA>AAA	p.R62K	ODZ3_uc010irv.1_Missense_Mutation_p.R62K	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	62	Cytoplasmic (Potential).|Teneurin N-terminal.				signal transduction	integral to membrane					0		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)														---	---	---	---	capture		Missense_Mutation	SNP	183245358	183245358	11241	4	G	A	A	33	33	ODZ3	A	2	2
ZDHHC11	79844	broad.mit.edu	37	5	837482	837482	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:837482G>T	uc011cma.1	-	6	1282	c.898C>A	c.(898-900)CAG>AAG	p.Q300K	ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	300						integral to membrane	acyltransferase activity|zinc ion binding			skin(1)|pancreas(1)	2			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)															---	---	---	---	capture		Missense_Mutation	SNP	837482	837482	18189	5	G	T	T	47	47	ZDHHC11	T	2	2
CDH12	1010	broad.mit.edu	37	5	22078737	22078737	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:22078737C>A	uc010iuc.2	-	2	507	c.49G>T	c.(49-51)GGA>TGA	p.G17*	CDH12_uc011cno.1_Nonsense_Mutation_p.G17*|CDH12_uc003jgk.2_Nonsense_Mutation_p.G17*	NM_004061	NP_004052	P55289	CAD12_HUMAN	cadherin 12, type 2 preproprotein	17					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)	2															HNSCC(59;0.17)			---	---	---	---	capture		Nonsense_Mutation	SNP	22078737	22078737	3227	5	C	A	A	21	21	CDH12	A	5	2
PDZD2	23037	broad.mit.edu	37	5	31983569	31983569	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31983569A>G	uc003jhl.2	+	3	1173	c.785A>G	c.(784-786)CAT>CGT	p.H262R	PDZD2_uc003jhm.2_Missense_Mutation_p.H262R|PDZD2_uc011cnx.1_Missense_Mutation_p.H88R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	262					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	31983569	31983569	12122	5	A	G	G	8	8	PDZD2	G	4	4
PDZD2	23037	broad.mit.edu	37	5	32088214	32088214	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:32088214G>A	uc003jhl.2	+	20	5048	c.4660G>A	c.(4660-4662)GAT>AAT	p.D1554N	PDZD2_uc003jhm.2_Missense_Mutation_p.D1554N	NM_178140	NP_835260	O15018	PDZD2_HUMAN	PDZ domain containing 2	1554					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9																		---	---	---	---	capture		Missense_Mutation	SNP	32088214	32088214	12122	5	G	A	A	37	37	PDZD2	A	1	1
UGT3A1	133688	broad.mit.edu	37	5	35955849	35955849	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:35955849A>T	uc003jjv.1	-	6	1350	c.1193T>A	c.(1192-1194)ATG>AAG	p.M398K	UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.M398K|UGT3A1_uc011cor.1_Missense_Mutation_p.M364K	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	398	Extracellular (Potential).					integral to membrane	glucuronosyltransferase activity			ovary(2)|central_nervous_system(1)	3	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	35955849	35955849	17521	5	A	T	T	8	8	UGT3A1	T	4	4
NIPBL	25836	broad.mit.edu	37	5	36984825	36984825	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:36984825G>T	uc003jkl.3	+	10	2042	c.1543G>T	c.(1543-1545)GGG>TGG	p.G515W	NIPBL_uc003jkk.3_Missense_Mutation_p.G515W|NIPBL_uc003jkm.1_Missense_Mutation_p.G394W	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	delangin isoform A	515					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	36984825	36984825	10829	5	G	T	T	47	47	NIPBL	T	2	2
NUP155	9631	broad.mit.edu	37	5	37350302	37350302	+	Silent	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:37350302G>A	uc003jku.1	-	7	907	c.789C>T	c.(787-789)TTC>TTT	p.F263F	NUP155_uc003jkt.1_Silent_p.F204F|NUP155_uc010iuz.1_Silent_p.F263F	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	263					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)															---	---	---	---	capture		Silent	SNP	37350302	37350302	11161	5	G	A	A	41	41	NUP155	A	2	2
C9	735	broad.mit.edu	37	5	39316013	39316013	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:39316013G>T	uc003jlv.3	-	6	823	c.734C>A	c.(733-735)CCC>CAC	p.P245H		NM_001737	NP_001728	P02748	CO9_HUMAN	complement component 9 precursor	245	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex					0	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)															---	---	---	---	capture		Missense_Mutation	SNP	39316013	39316013	2556	5	G	T	T	43	43	C9	T	2	2
CARD6	84674	broad.mit.edu	37	5	40854311	40854311	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40854311C>A	uc003jmg.2	+	3	2952	c.2877C>A	c.(2875-2877)CCC>CCA	p.P959P		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	959	Pro-rich.				apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5																		---	---	---	---	capture		Silent	SNP	40854311	40854311	2769	5	C	A	A	24	24	CARD6	A	2	2
CARD6	84674	broad.mit.edu	37	5	40854463	40854463	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:40854463C>A	uc003jmg.2	+	3	3104	c.3029C>A	c.(3028-3030)CCT>CAT	p.P1010H		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	1010	Pro-rich.				apoptosis|regulation of apoptosis	intracellular				ovary(2)|skin(2)|lung(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	40854463	40854463	2769	5	C	A	A	24	24	CARD6	A	2	2
HCN1	348980	broad.mit.edu	37	5	45262343	45262343	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:45262343G>T	uc003jok.2	-	8	2378	c.2353C>A	c.(2353-2355)CCA>ACA	p.P785T		NM_021072	NP_066550	O60741	HCN1_HUMAN	hyperpolarization activated cyclic	785	Cytoplasmic (Potential).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	45262343	45262343	7278	5	G	T	T	42	42	HCN1	T	2	2
CCDC125	202243	broad.mit.edu	37	5	68616126	68616126	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:68616126C>T	uc003jvv.1	-	1	285	c.242G>A	c.(241-243)AGC>AAC	p.S81N	CCDC125_uc003jvx.1_Missense_Mutation_p.S81N|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_5'UTR|CCDC125_uc003jvz.1_Missense_Mutation_p.S81N	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	81						cytoplasm					0		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)														---	---	---	---	capture		Missense_Mutation	SNP	68616126	68616126	2881	5	C	T	T	28	28	CCDC125	T	2	2
BDP1	55814	broad.mit.edu	37	5	70856009	70856009	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:70856009C>G	uc003kbp.1	+	37	7704	c.7441C>G	c.(7441-7443)CCT>GCT	p.P2481A	BDP1_uc003kbq.1_RNA|BDP1_uc003kbr.1_RNA	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	transcription factor-like nuclear regulator	2481					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			skin(2)	2		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)														---	---	---	---	capture		Missense_Mutation	SNP	70856009	70856009	1417	5	C	G	G	30	30	BDP1	G	3	3
GPR98	84059	broad.mit.edu	37	5	90024532	90024532	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:90024532C>A	uc003kju.2	+	49	10304	c.10208C>A	c.(10207-10209)CCT>CAT	p.P3403H	GPR98_uc003kjt.2_Missense_Mutation_p.P1109H|GPR98_uc003kjv.2_Missense_Mutation_p.P1003H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98 precursor	3403	EAR 4.|Extracellular (Potential).				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			ovary(11)|central_nervous_system(3)|pancreas(2)	16		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)														---	---	---	---	capture		Missense_Mutation	SNP	90024532	90024532	6997	5	C	A	A	24	24	GPR98	A	2	2
MCC	4163	broad.mit.edu	37	5	112363013	112363013	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:112363013C>G	uc003kqj.3	-	17	3006	c.2476G>C	c.(2476-2478)GAA>CAA	p.E826Q	MCC_uc003kqk.3_RNA|MCC_uc003kql.3_Missense_Mutation_p.E1016Q	NM_002387	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers isoform 2	826					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			ovary(1)	1		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)														---	---	---	---	capture		Missense_Mutation	SNP	112363013	112363013	9762	5	C	G	G	29	29	MCC	G	3	3
FEM1C	56929	broad.mit.edu	37	5	114879045	114879045	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:114879045G>C	uc003krb.1	-	2	708	c.146C>G	c.(145-147)GCC>GGC	p.A49G		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	feminization 1 homolog a	49	ANK 2.					cytoplasm				breast(2)|ovary(1)	3		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)														---	---	---	---	capture		Missense_Mutation	SNP	114879045	114879045	6048	5	G	C	C	42	42	FEM1C	C	3	3
CDC23	8697	broad.mit.edu	37	5	137524712	137524712	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137524712G>T	uc003lcl.2	-	16	1780	c.1749C>A	c.(1747-1749)CCC>CCA	p.P583P		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	cell division cycle protein 23	583					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity				0			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)															---	---	---	---	capture		Silent	SNP	137524712	137524712	3189	5	G	T	T	47	47	CDC23	T	2	2
AFAP1L1	134265	broad.mit.edu	37	5	148700003	148700003	+	Missense_Mutation	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:148700003G>A	uc003lqh.2	+	14	1806	c.1675G>A	c.(1675-1677)GAT>AAT	p.D559N	AFAP1L1_uc010jgy.2_Missense_Mutation_p.D559N|AFAP1L1_uc003lqi.1_Missense_Mutation_p.D174N	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	559							protein binding			breast(1)|pancreas(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture		Missense_Mutation	SNP	148700003	148700003	355	5	G	A	A	45	45	AFAP1L1	A	2	2
GRM6	2916	broad.mit.edu	37	5	178413281	178413281	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:178413281G>T	uc003mjr.2	-	8	2153	c.1974C>A	c.(1972-1974)GGC>GGA	p.G658G	GRM6_uc003mjq.2_5'Flank|GRM6_uc010jla.1_Silent_p.G241G|GRM6_uc003mjs.1_Silent_p.G278G	NM_000843	NP_000834	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6 precursor	658	Helical; Name=3; (Potential).				detection of visible light|visual perception	integral to plasma membrane				lung(4)|ovary(2)|breast(1)|pancreas(1)	8	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)														---	---	---	---	capture		Silent	SNP	178413281	178413281	7080	5	G	T	T	42	42	GRM6	T	2	2
MGAT1	4245	broad.mit.edu	37	5	180218906	180218906	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:180218906G>T	uc003mmg.3	-	2	1561	c.1066C>A	c.(1066-1068)CGA>AGA	p.R356R	MGAT1_uc010jlf.2_Silent_p.R356R|MGAT1_uc010jlg.2_Silent_p.R356R|MGAT1_uc003mmh.3_Silent_p.R356R|MGAT1_uc010jlh.2_Silent_p.R356R|MGAT1_uc003mmi.3_Silent_p.R356R	NM_002406	NP_002397	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein	356	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			ovary(1)	1	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)															---	---	---	---	capture		Silent	SNP	180218906	180218906	9932	5	G	T	T	39	39	MGAT1	T	1	1
KIAA0319	9856	broad.mit.edu	37	6	24576747	24576747	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:24576747G>T	uc011djo.1	-	10	1820	c.1583C>A	c.(1582-1584)CCA>CAA	p.P528Q	KIAA0319_uc011djp.1_Missense_Mutation_p.P483Q|KIAA0319_uc003neh.1_Missense_Mutation_p.P528Q|KIAA0319_uc011djq.1_Missense_Mutation_p.P519Q|KIAA0319_uc011djr.1_Missense_Mutation_p.P528Q|KIAA0319_uc010jpt.1_5'UTR	NM_014809	NP_055624	Q5VV43	K0319_HUMAN	KIAA0319 precursor	528	Extracellular (Potential).				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			ovary(1)|skin(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	24576747	24576747	8475	6	G	T	T	47	47	KIAA0319	T	2	2
TRIM38	10475	broad.mit.edu	37	6	25967011	25967011	+	Silent	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25967011G>T	uc003nfm.2	+	3	696	c.261G>T	c.(259-261)ACG>ACT	p.T87T	TRIM38_uc003nfn.2_Silent_p.T87T	NM_006355	NP_006346	O00635	TRI38_HUMAN	tripartite motif-containing 38	87					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	25967011	25967011	17056	6	G	T	T	39	39	TRIM38	T	1	1
ZNF184	7738	broad.mit.edu	37	6	27425149	27425149	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27425149G>T	uc003njj.2	-	3	926	c.115C>A	c.(115-117)CAG>AAG	p.Q39K	ZNF184_uc010jqv.2_Missense_Mutation_p.Q39K|ZNF184_uc003nji.2_Missense_Mutation_p.Q39K	NM_007149	NP_009080	Q99676	ZN184_HUMAN	zinc finger protein 184	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	27425149	27425149	18342	6	G	T	T	47	47	ZNF184	T	2	2
HIST1H1B	3009	broad.mit.edu	37	6	27834958	27834958	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:27834958C>A	uc003njx.2	-	1	402	c.350G>T	c.(349-351)GGG>GTG	p.G117V		NM_005322	NP_005313	P16401	H15_HUMAN	histone cluster 1, H1b	117					nucleosome assembly	nucleosome|nucleus	DNA binding			large_intestine(2)|lung(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	27834958	27834958	7408	6	C	A	A	22	22	HIST1H1B	A	2	2
ZNF192	7745	broad.mit.edu	37	6	28116249	28116249	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28116249C>G	uc003nkn.1	+	2	248	c.64C>G	c.(64-66)CTT>GTT	p.L22V	ZNF192_uc010jqx.1_Missense_Mutation_p.L22V|ZNF192_uc010jqy.1_Translation_Start_Site|ZNF192_uc011dkz.1_Translation_Start_Site	NM_006298	NP_006289	Q15776	ZN192_HUMAN	zinc finger protein 192	22					viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	28116249	28116249	18347	6	C	G	G	32	32	ZNF192	G	3	3
GPX5	2880	broad.mit.edu	37	6	28499635	28499635	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28499635G>C	uc003nll.2	+	3	324	c.322G>C	c.(322-324)GAA>CAA	p.E108Q	GPX5_uc003nlm.2_Intron|GPX5_uc003nln.2_Intron	NM_001509	NP_001500	O75715	GPX5_HUMAN	glutathione peroxidase 5 isoform 1 precursor	108					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			skin(1)	1					Glutathione(DB00143)													---	---	---	---	capture		Missense_Mutation	SNP	28499635	28499635	7019	6	G	C	C	33	33	GPX5	C	3	3
HLA-B	3106	broad.mit.edu	37	6	31322940	31322940	+	Missense_Mutation	SNP	G	T	T	rs9264619		TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31322940G>T	uc003nth.2	-	5	1010	c.956C>A	c.(955-957)GCA>GAA	p.A319E	HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Missense_Mutation_p.A198E|HLA-B_uc003nti.1_Intron	NM_005514	NP_005505	P01889	1B07_HUMAN	major histocompatibility complex, class I, B	319	Helical; (Potential).				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity				0														Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of				---	---	---	---	capture		Missense_Mutation	SNP	31322940	31322940	7487	6	G	T	T	46	46	HLA-B	T	2	2
LTB	4050	broad.mit.edu	37	6	31548838	31548838	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31548838G>T	uc003nuk.2	-	4	391	c.383C>A	c.(382-384)CCG>CAG	p.P128Q	LTB_uc003nul.2_3'UTR	NM_002341	NP_002332	Q06643	TNFC_HUMAN	lymphotoxin-beta isoform a	128	Extracellular (Potential).				cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding				0					Infliximab(DB00065)|Simvastatin(DB00641)													---	---	---	---	capture		Missense_Mutation	SNP	31548838	31548838	9446	6	G	T	T	39	39	LTB	T	1	1
BAT2	7916	broad.mit.edu	37	6	31600473	31600473	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31600473C>A	uc003nvb.3	+	16	4272	c.4023C>A	c.(4021-4023)CCC>CCA	p.P1341P	BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.P1341P	NM_080686	NP_542417	P48634	PRC2A_HUMAN	HLA-B associated transcript-2	1341	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding				0																		---	---	---	---	capture		Silent	SNP	31600473	31600473	1340	6	C	A	A	22	22	BAT2	A	2	2
VARS	7407	broad.mit.edu	37	6	31760056	31760056	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:31760056C>A	uc003nxe.2	-	6	1232	c.809G>T	c.(808-810)AGG>ATG	p.R270M	VARS_uc011doi.1_RNA	NM_006295	NP_006286	P26640	SYVC_HUMAN	valyl-tRNA synthetase	270					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3					L-Valine(DB00161)													---	---	---	---	capture		Missense_Mutation	SNP	31760056	31760056	17688	6	C	A	A	24	24	VARS	A	2	2
DNAH8	1769	broad.mit.edu	37	6	38854590	38854590	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38854590G>C	uc003ooe.1	+	55	8232	c.7632G>C	c.(7630-7632)CAG>CAC	p.Q2544H		NM_001371	NP_001362			dynein, axonemal, heavy polypeptide 8											skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21																		---	---	---	---	capture		Missense_Mutation	SNP	38854590	38854590	4790	6	G	C	C	33	33	DNAH8	C	3	3
KIAA0240	23506	broad.mit.edu	37	6	42797215	42797215	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42797215G>T	uc003osn.1	+	6	1295	c.1144G>T	c.(1144-1146)GGG>TGG	p.G382W	KIAA0240_uc003osm.1_Missense_Mutation_p.G382W|KIAA0240_uc011duw.1_Missense_Mutation_p.G382W|KIAA0240_uc003oso.1_Missense_Mutation_p.G382W|KIAA0240_uc003osp.1_Missense_Mutation_p.G382W	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	382										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)															---	---	---	---	capture		Missense_Mutation	SNP	42797215	42797215	8471	6	G	T	T	47	47	KIAA0240	T	2	2
KIAA0240	23506	broad.mit.edu	37	6	42833017	42833017	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42833017C>A	uc003osn.1	+	13	3224	c.3073C>A	c.(3073-3075)CAG>AAG	p.Q1025K	KIAA0240_uc011duw.1_Missense_Mutation_p.Q1025K|KIAA0240_uc003osp.1_Missense_Mutation_p.Q1025K	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	hypothetical protein LOC23506	1025										ovary(1)	1	Colorectal(47;0.196)		Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)															---	---	---	---	capture		Missense_Mutation	SNP	42833017	42833017	8471	6	C	A	A	21	21	KIAA0240	A	2	2
C6orf153	88745	broad.mit.edu	37	6	42996841	42996841	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:42996841C>A	uc003otp.1	+	7	663	c.655C>A	c.(655-657)CAG>AAG	p.Q219K		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	hypothetical protein LOC88745	219					ribosomal small subunit biogenesis|rRNA processing	nucleolus					0			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)															---	---	---	---	capture		Missense_Mutation	SNP	42996841	42996841	2442	6	C	A	A	21	21	C6orf153	A	2	2
XPO5	57510	broad.mit.edu	37	6	43528672	43528672	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43528672G>T	uc003ovp.2	-	10	1295	c.1084C>A	c.(1084-1086)CAT>AAT	p.H362N		NM_020750	NP_065801	Q9HAV4	XPO5_HUMAN	exportin 5	362					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			skin(2)|breast(1)|kidney(1)	4	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)															---	---	---	---	capture		Missense_Mutation	SNP	43528672	43528672	18030	6	G	T	T	47	47	XPO5	T	2	2
GTPBP2	54676	broad.mit.edu	37	6	43593223	43593223	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43593223C>A	uc003ovs.2	-	5	619	c.582G>T	c.(580-582)CAG>CAT	p.Q194H	GTPBP2_uc010jyv.2_Missense_Mutation_p.Q106H|GTPBP2_uc003ovt.1_Missense_Mutation_p.Q194H	NM_019096	NP_061969	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	194							GTP binding|GTPase activity			liver(1)|skin(1)	2	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)															---	---	---	---	capture		Missense_Mutation	SNP	43593223	43593223	7160	6	C	A	A	24	24	GTPBP2	A	2	2
AARS2	57505	broad.mit.edu	37	6	44279865	44279865	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:44279865G>T	uc010jza.1	-	2	382	c.379C>A	c.(379-381)CAT>AAT	p.H127N	SPATS1_uc003oxg.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	127					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			ovary(1)	1	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)													---	---	---	---	capture		Missense_Mutation	SNP	44279865	44279865	21	6	G	T	T	47	47	AARS2	T	2	2
TNFRSF21	27242	broad.mit.edu	37	6	47253992	47253992	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:47253992G>T	uc003oyv.2	-	2	869	c.436C>A	c.(436-438)CCC>ACC	p.P146T		NM_014452	NP_055267	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily,	146	Extracellular (Potential).|TNFR-Cys 3.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity				0			Lung(136;0.189)															---	---	---	---	capture		Missense_Mutation	SNP	47253992	47253992	16836	6	G	T	T	43	43	TNFRSF21	T	2	2
PKHD1	5314	broad.mit.edu	37	6	51927418	51927418	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51927418C>A	uc003pah.1	-	14	1293	c.1017G>T	c.(1015-1017)GAG>GAT	p.E339D	PKHD1_uc003pai.2_Missense_Mutation_p.E339D	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	339	Extracellular (Potential).				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44	Lung NSC(77;0.0605)																	---	---	---	---	capture		Missense_Mutation	SNP	51927418	51927418	12396	6	C	A	A	24	24	PKHD1	A	2	2
RIMS1	22999	broad.mit.edu	37	6	72975123	72975123	+	Silent	SNP	A	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:72975123A>G	uc003pga.2	+	21	3302	c.3225A>G	c.(3223-3225)AAA>AAG	p.K1075K	RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Intron|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron|RIMS1_uc010kas.1_Intron	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1075					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			ovary(7)|pancreas(2)|breast(1)	10		all_epithelial(107;0.179)|all_hematologic(105;0.212)																---	---	---	---	capture		Silent	SNP	72975123	72975123	13844	6	A	G	G	4	4	RIMS1	G	4	4
FILIP1	27145	broad.mit.edu	37	6	76023089	76023089	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:76023089G>C	uc003pia.2	-	5	2832	c.2459C>G	c.(2458-2460)CCA>CGA	p.P820R	FILIP1_uc003phy.1_Missense_Mutation_p.P820R|FILIP1_uc003phz.2_Missense_Mutation_p.P721R|FILIP1_uc010kbe.2_Missense_Mutation_p.P823R|FILIP1_uc003pib.1_Missense_Mutation_p.P572R	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	820										skin(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	76023089	76023089	6132	6	G	C	C	47	47	FILIP1	C	3	3
IBTK	25998	broad.mit.edu	37	6	82922461	82922461	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:82922461T>C	uc003pjl.1	-	13	2781	c.2254A>G	c.(2254-2256)AAC>GAC	p.N752D	IBTK_uc011dyv.1_Missense_Mutation_p.N752D|IBTK_uc011dyw.1_Missense_Mutation_p.N551D|IBTK_uc010kbi.1_Missense_Mutation_p.N446D|IBTK_uc003pjm.2_Missense_Mutation_p.N752D	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton's tyrosine kinase	752					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			ovary(2)|central_nervous_system(2)	4		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)														---	---	---	---	capture		Missense_Mutation	SNP	82922461	82922461	7776	6	T	C	C	62	62	IBTK	C	4	4
QRSL1	55278	broad.mit.edu	37	6	107111000	107111000	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:107111000G>C	uc003prm.2	+	10	1422	c.1306G>C	c.(1306-1308)GAG>CAG	p.E436Q		NM_018292	NP_060762	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase	436					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor				0	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)														---	---	---	---	capture		Missense_Mutation	SNP	107111000	107111000	13339	6	G	C	C	33	33	QRSL1	C	3	3
FAM54A	113115	broad.mit.edu	37	6	136560824	136560824	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:136560824G>C	uc010kgp.1	-	6	1039	c.649C>G	c.(649-651)CAG>GAG	p.Q217E	FAM54A_uc003qgt.1_Missense_Mutation_p.Q217E|FAM54A_uc003qgu.1_Missense_Mutation_p.Q174E	NM_001099286	NP_001092756	Q6P444	FA54A_HUMAN	DUF729 domain containing 1	217	Pro-rich.									skin(1)	1	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)														---	---	---	---	capture		Missense_Mutation	SNP	136560824	136560824	5804	6	G	C	C	45	45	FAM54A	C	3	3
NUP43	348995	broad.mit.edu	37	6	150067096	150067096	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:150067096C>A	uc003qmz.2	-	2	280	c.223G>T	c.(223-225)GGT>TGT	p.G75C	NUP43_uc011eee.1_RNA|NUP43_uc011eef.1_Missense_Mutation_p.G75C	NM_198887	NP_942590	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	75	WD 2.				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			upper_aerodigestive_tract(1)	1		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)														---	---	---	---	capture		Missense_Mutation	SNP	150067096	150067096	11170	6	C	A	A	21	21	NUP43	A	2	2
C6orf211	79624	broad.mit.edu	37	6	151773689	151773689	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151773689C>A	uc003qok.1	+	1	268	c.9C>A	c.(7-9)GTC>GTA	p.V3V	C6orf211_uc011ees.1_5'UTR|RMND1_uc003qoi.2_5'Flank	NM_024573	NP_078849	Q9H993	CF211_HUMAN	hypothetical protein LOC79624	3							protein binding				0			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)														---	---	---	---	capture		Silent	SNP	151773689	151773689	2459	6	C	A	A	31	31	C6orf211	A	1	1
MYCT1	80177	broad.mit.edu	37	6	153042995	153042995	+	Silent	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:153042995G>A	uc003qpd.3	+	2	323	c.315G>A	c.(313-315)CAG>CAA	p.Q105Q	MYCT1_uc010kjc.1_Intron|MYCT1_uc003qpc.3_Silent_p.Q105Q	NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	myc target 1	105	Bipartite nuclear localization signal (Potential).					nucleus				ovary(1)	1		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)														---	---	---	---	capture		Silent	SNP	153042995	153042995	10417	6	G	A	A	36	36	MYCT1	A	2	2
NOX3	50508	broad.mit.edu	37	6	155776252	155776252	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:155776252C>A	uc003qqm.2	-	2	163	c.60G>T	c.(58-60)CTG>CTT	p.L20L		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	20	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	155776252	155776252	10961	6	C	A	A	21	21	NOX3	A	2	2
SLC22A1	6580	broad.mit.edu	37	6	160553335	160553335	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160553335C>A	uc003qtc.2	+	3	692	c.587C>A	c.(586-588)TCG>TAG	p.S196*	SLC22A1_uc003qtd.2_Nonsense_Mutation_p.S196*	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	196	Helical; (Potential).					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)														---	---	---	---	capture		Nonsense_Mutation	SNP	160553335	160553335	14936	6	C	A	A	31	31	SLC22A1	A	5	1
SLC22A1	6580	broad.mit.edu	37	6	160575837	160575837	+	Nonsense_Mutation	SNP	G	T	T	rs34059508	byFrequency;by1000genomes	TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:160575837G>T	uc003qtc.2	+	9	1498	c.1393G>T	c.(1393-1395)GGA>TGA	p.G465*	SLC22A1_uc003qtd.2_Intron	NM_003057	NP_003048	O15245	S22A1_HUMAN	solute carrier family 22 member 1 isoform a	465	Helical; (Potential).			G->A: No changes in the MPP uptake.		basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding				0		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)														---	---	---	---	capture		Nonsense_Mutation	SNP	160575837	160575837	14936	6	G	T	T	39	39	SLC22A1	T	5	1
AMZ1	155185	broad.mit.edu	37	7	2740387	2740387	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2740387T>C	uc003smr.1	+	2	663	c.302T>C	c.(301-303)ATA>ACA	p.I101T	AMZ1_uc003sms.1_Missense_Mutation_p.I101T|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	101							metallopeptidase activity|zinc ion binding				0		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)														---	---	---	---	capture		Missense_Mutation	SNP	2740387	2740387	599	7	T	C	C	49	49	AMZ1	C	4	4
MRPL32	64983	broad.mit.edu	37	7	42972006	42972006	+	Silent	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:42972006C>G	uc003tia.2	+	1	68	c.21C>G	c.(19-21)GTC>GTG	p.V7V	C7orf25_uc010kxr.2_5'Flank|PSMA2_uc003thy.2_5'Flank|PSMA2_uc010kxt.2_5'Flank|PSMA2_uc003thz.1_5'Flank|MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_5'UTR	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32 precursor	7					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome				0																		---	---	---	---	capture		Silent	SNP	42972006	42972006	10188	7	C	G	G	32	32	MRPL32	G	3	3
ZNF804B	219578	broad.mit.edu	37	7	88963091	88963091	+	Silent	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:88963091C>T	uc011khi.1	+	4	1333	c.795C>T	c.(793-795)TGC>TGT	p.C265C		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	265						intracellular	zinc ion binding			ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)												HNSCC(36;0.09)			---	---	---	---	capture		Silent	SNP	88963091	88963091	18769	7	C	T	T	28	28	ZNF804B	T	2	2
TRRAP	8295	broad.mit.edu	37	7	98506544	98506544	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:98506544G>C	uc003upp.2	+	14	1518	c.1309G>C	c.(1309-1311)GAG>CAG	p.E437Q	TRRAP_uc011kis.1_Missense_Mutation_p.E437Q|TRRAP_uc003upr.2_Missense_Mutation_p.E129Q	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	437					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	98506544	98506544	17152	7	G	C	C	41	41	TRRAP	C	3	3
GAL3ST4	79690	broad.mit.edu	37	7	99764285	99764285	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99764285C>A	uc003utt.2	-	2	1286	c.269G>T	c.(268-270)GGG>GTG	p.G90V	GAL3ST4_uc003utu.2_Missense_Mutation_p.G90V|GAL3ST4_uc010lgq.2_Intron	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	90	Lumenal (Potential).				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			ovary(3)	3	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---	capture		Missense_Mutation	SNP	99764285	99764285	6464	7	C	A	A	22	22	GAL3ST4	A	2	2
RELN	5649	broad.mit.edu	37	7	103629586	103629586	+	Missense_Mutation	SNP	T	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:103629586T>G	uc003vca.2	-	1	378	c.218A>C	c.(217-219)GAA>GCA	p.E73A	RELN_uc010liz.2_Missense_Mutation_p.E73A	NM_005045	NP_005036	P78509	RELN_HUMAN	reelin isoform a	73	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1)	19				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)														---	---	---	---	capture		Missense_Mutation	SNP	103629586	103629586	13689	7	T	G	G	62	62	RELN	G	4	4
LAMB4	22798	broad.mit.edu	37	7	107706244	107706244	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:107706244G>T	uc010ljo.1	-	21	2883	c.2799C>A	c.(2797-2799)AGC>AGA	p.S933R	LAMB4_uc003vey.2_Missense_Mutation_p.S933R|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	laminin, beta 4 precursor	933	Laminin EGF-like 9.				cell adhesion	basement membrane				ovary(4)|breast(2)|large_intestine(1)|skin(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	107706244	107706244	8936	7	G	T	T	34	34	LAMB4	T	2	2
KCND2	3751	broad.mit.edu	37	7	119915186	119915186	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:119915186C>T	uc003vjj.1	+	1	1465	c.500C>T	c.(499-501)GCA>GTA	p.A167V		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related	167	Cytoplasmic (Potential).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5	all_neural(327;0.117)																	---	---	---	---	capture		Missense_Mutation	SNP	119915186	119915186	8324	7	C	T	T	25	25	KCND2	T	2	2
CADPS2	93664	broad.mit.edu	37	7	121960382	121960382	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:121960382C>A	uc010lkp.2	-	29	3891	c.3728G>T	c.(3727-3729)AGG>ATG	p.R1243M	CADPS2_uc011knx.1_Missense_Mutation_p.R618M|CADPS2_uc003vkg.3_Missense_Mutation_p.R897M|CADPS2_uc010lkq.2_Missense_Mutation_p.R1202M	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	1243					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	121960382	121960382	2687	7	C	A	A	24	24	CADPS2	A	2	2
CALU	813	broad.mit.edu	37	7	128388796	128388796	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:128388796G>T	uc003vns.2	+	2	311	c.159G>T	c.(157-159)TTG>TTT	p.L53F	CALU_uc003vnq.2_Missense_Mutation_p.L53F|CALU_uc003vnr.2_Missense_Mutation_p.L53F	NM_001130674	NP_001124146	O43852	CALU_HUMAN	calumenin isoform b precursor	53					platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	128388796	128388796	2711	7	G	T	T	47	47	CALU	T	2	2
C7orf45	136263	broad.mit.edu	37	7	129855864	129855864	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:129855864C>T	uc003vpp.2	+	3	336	c.289C>T	c.(289-291)CCC>TCC	p.P97S		NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	hypothetical protein LOC136263	97						integral to membrane					0	Melanoma(18;0.0435)																	---	---	---	---	capture		Missense_Mutation	SNP	129855864	129855864	2502	7	C	T	T	30	30	C7orf45	T	2	2
TSGA13	114960	broad.mit.edu	37	7	130353950	130353950	+	Missense_Mutation	SNP	C	A	A	rs149212840		TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:130353950C>A	uc003vqi.2	-	8	1189	c.732G>T	c.(730-732)TTG>TTT	p.L244F	COPG2_uc003vqh.1_5'Flank|TSGA13_uc003vqj.2_Missense_Mutation_p.L244F	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	testis specific, 13	244										ovary(2)	2	Melanoma(18;0.0435)																	---	---	---	---	capture		Missense_Mutation	SNP	130353950	130353950	17170	7	C	A	A	21	21	TSGA13	A	2	2
GIMAP8	155038	broad.mit.edu	37	7	150171222	150171222	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150171222G>T	uc003whj.2	+	4	1135	c.805G>T	c.(805-807)GGG>TGG	p.G269W		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	269						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)														---	---	---	---	capture		Missense_Mutation	SNP	150171222	150171222	6653	7	G	T	T	43	43	GIMAP8	T	2	2
AMAC1L2	83650	broad.mit.edu	37	8	11189484	11189484	+	Missense_Mutation	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11189484T>C	uc003wtp.1	+	1	990	c.869T>C	c.(868-870)GTG>GCG	p.V290A		NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	acyl-malonyl condensing enzyme	290	DUF6 2.|Helical; (Potential).					integral to membrane					0			STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)														---	---	---	---	capture		Missense_Mutation	SNP	11189484	11189484	563	8	T	C	C	59	59	AMAC1L2	C	4	4
PSD3	23362	broad.mit.edu	37	8	18730071	18730071	+	Silent	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:18730071G>A	uc003wza.2	-	3	406	c.303C>T	c.(301-303)CAC>CAT	p.H101H		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	ADP-ribosylation factor guanine nucleotide	101					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			ovary(3)	3				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)														---	---	---	---	capture		Silent	SNP	18730071	18730071	13101	8	G	A	A	36	36	PSD3	A	2	2
XPO7	23039	broad.mit.edu	37	8	21856683	21856683	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:21856683C>A	uc003xaa.3	+	23	2612	c.2510C>A	c.(2509-2511)TCC>TAC	p.S837Y	XPO7_uc010lti.2_Missense_Mutation_p.S846Y|XPO7_uc010ltk.2_Missense_Mutation_p.S838Y	NM_015024	NP_055839	Q9UIA9	XPO7_HUMAN	exportin 7 isoform b	837					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1)	5				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)														---	---	---	---	capture		Missense_Mutation	SNP	21856683	21856683	18032	8	C	A	A	30	30	XPO7	A	2	2
SLC25A37	51312	broad.mit.edu	37	8	23423786	23423786	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:23423786G>C	uc003xdo.2	+	2	529	c.376G>C	c.(376-378)GAA>CAA	p.E126Q	SLC25A37_uc003xdn.1_Missense_Mutation_p.E126Q|SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_5'Flank	NM_016612	NP_057696	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25, member 37	126	Solcar 1.				ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane					0		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)														---	---	---	---	capture		Missense_Mutation	SNP	23423786	23423786	14998	8	G	C	C	45	45	SLC25A37	C	3	3
BNIP3L	665	broad.mit.edu	37	8	26248821	26248821	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:26248821G>T	uc003xex.1	+	2	287	c.163G>T	c.(163-165)GGG>TGG	p.G55W	BNIP3L_uc010luh.1_Intron|BNIP3L_uc010lui.1_Missense_Mutation_p.G15W|BNIP3L_uc003xey.2_Missense_Mutation_p.G15W	NM_004331	NP_004322	O60238	BNI3L_HUMAN	BCL2/adenovirus E1B 19kD-interacting protein	55					apoptosis|defense response to virus|induction of apoptosis|interspecies interaction between organisms|mitochondrial protein catabolic process|negative regulation of survival gene product expression	endoplasmic reticulum|integral to membrane|mitochondrial outer membrane|nuclear envelope	lamin binding|protein heterodimerization activity|protein homodimerization activity				0		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0019)|Epithelial(17;1.59e-12)|all cancers(2;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(2;2.57e-08)|Colorectal(74;0.135)														---	---	---	---	capture		Missense_Mutation	SNP	26248821	26248821	1504	8	G	T	T	47	47	BNIP3L	T	2	2
SCARA5	286133	broad.mit.edu	37	8	27737097	27737097	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:27737097C>G	uc003xgj.2	-	8	1780	c.1340G>C	c.(1339-1341)CGA>CCA	p.R447P	SCARA5_uc010luz.2_Missense_Mutation_p.R222P	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	447	SRCR.|Extracellular (Potential).				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|skin(1)	2		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)														---	---	---	---	capture		Missense_Mutation	SNP	27737097	27737097	14361	8	C	G	G	31	31	SCARA5	G	3	3
RP1	6101	broad.mit.edu	37	8	55539799	55539799	+	Silent	SNP	T	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:55539799T>C	uc003xsd.1	+	4	3505	c.3357T>C	c.(3355-3357)TCT>TCC	p.S1119S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	retinitis pigmentosa RP1 protein	1119					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			skin(7)|ovary(4)|pancreas(1)	12		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)															---	---	---	---	capture		Silent	SNP	55539799	55539799	14011	8	T	C	C	55	55	RP1	C	4	4
CHD7	55636	broad.mit.edu	37	8	61654810	61654810	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61654810C>A	uc003xue.2	+	2	1296	c.819C>A	c.(817-819)CCC>CCA	p.P273P		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	273					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---	capture		Silent	SNP	61654810	61654810	3464	8	C	A	A	21	21	CHD7	A	2	2
CHD7	55636	broad.mit.edu	37	8	61749418	61749418	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:61749418C>A	uc003xue.2	+	17	4509	c.4032C>A	c.(4030-4032)CTC>CTA	p.L1344L		NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1344	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1)	9		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)															---	---	---	---	capture		Silent	SNP	61749418	61749418	3464	8	C	A	A	30	30	CHD7	A	2	2
PI15	51050	broad.mit.edu	37	8	75757474	75757474	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:75757474C>A	uc003yal.2	+	4	683	c.504C>A	c.(502-504)CCC>CCA	p.P168P	uc003yak.1_Intron|PI15_uc003yam.2_Silent_p.P168P	NM_015886	NP_056970	O43692	PI15_HUMAN	protease inhibitor 15 preproprotein	168						extracellular region	peptidase inhibitor activity			central_nervous_system(2)|ovary(1)	3	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)															---	---	---	---	capture		Silent	SNP	75757474	75757474	12292	8	C	A	A	21	21	PI15	A	2	2
ZFHX4	79776	broad.mit.edu	37	8	77618478	77618478	+	Nonsense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77618478C>T	uc003yav.2	+	2	2542	c.2155C>T	c.(2155-2157)CAG>TAG	p.Q719*	ZFHX4_uc003yat.1_Nonsense_Mutation_p.Q719*|ZFHX4_uc003yau.1_Nonsense_Mutation_p.Q719*|ZFHX4_uc003yaw.1_Nonsense_Mutation_p.Q719*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	719	C2H2-type 3.					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		Nonsense_Mutation	SNP	77618478	77618478	18223	8	C	T	T	25	25	ZFHX4	T	5	2
MMP16	4325	broad.mit.edu	37	8	89086966	89086966	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:89086966C>G	uc003yeb.3	-	7	1371	c.1089G>C	c.(1087-1089)CAG>CAC	p.Q363H	MMP16_uc003yec.2_Missense_Mutation_p.Q363H	NM_005941	NP_005932	P51512	MMP16_HUMAN	matrix metalloproteinase 16 isoform 1	363	Extracellular (Potential).|Hemopexin-like 1.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8																		---	---	---	---	capture		Missense_Mutation	SNP	89086966	89086966	10045	8	C	G	G	20	20	MMP16	G	3	3
UBR5	51366	broad.mit.edu	37	8	103299702	103299702	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103299702C>G	uc003ykr.1	-	37	4949	c.4916G>C	c.(4915-4917)CGC>CCC	p.R1639P	UBR5_uc003yks.1_Missense_Mutation_p.R1639P	NM_015902	NP_056986	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin	1639					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)															---	---	---	---	capture		Missense_Mutation	SNP	103299702	103299702	17463	8	C	G	G	27	27	UBR5	G	3	3
EIF3E	3646	broad.mit.edu	37	8	109215290	109215290	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:109215290C>A	uc003ymu.2	-	12	1249	c.1221G>T	c.(1219-1221)AAG>AAT	p.K407N	EIF3E_uc003ymt.2_Missense_Mutation_p.K358N|EIF3E_uc003ymv.2_Missense_Mutation_p.K314N	NM_001568	NP_001559	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3,	407	Sufficient for interaction with MCM7.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding			ovary(2)|kidney(1)	3			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)															---	---	---	---	capture		Missense_Mutation	SNP	109215290	109215290	5206	8	C	A	A	32	32	EIF3E	A	2	2
NSMCE2	286053	broad.mit.edu	37	8	126369490	126369490	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:126369490G>T	uc003yrw.2	+	6	676	c.448G>T	c.(448-450)GGA>TGA	p.G150*		NM_173685	NP_775956	Q96MF7	NSE2_HUMAN	non-SMC element 2, MMS21 homolog	150					DNA recombination|DNA repair	nucleus	ligase activity|zinc ion binding			breast(1)	1	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)															---	---	---	---	capture		Nonsense_Mutation	SNP	126369490	126369490	11081	8	G	T	T	39	39	NSMCE2	T	5	1
CYP11B2	1585	broad.mit.edu	37	8	143995723	143995723	+	Missense_Mutation	SNP	A	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:143995723A>G	uc003yxk.1	-	5	914	c.911T>C	c.(910-912)ATC>ACC	p.I304T		NM_000498	NP_000489	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B,	304					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity				0	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)									Familial_Hyperaldosteronism_type_I				---	---	---	---	capture		Missense_Mutation	SNP	143995723	143995723	4311	8	A	G	G	12	12	CYP11B2	G	4	4
PARP10	84875	broad.mit.edu	37	8	145058587	145058587	+	Nonsense_Mutation	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:145058587G>A	uc003zal.3	-	6	1579	c.1471C>T	c.(1471-1473)CAG>TAG	p.Q491*	PARP10_uc003zak.3_Nonsense_Mutation_p.Q197*|PARP10_uc011lku.1_Nonsense_Mutation_p.Q503*|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Nonsense_Mutation_p.Q491*	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	491						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1)	6	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)															---	---	---	---	capture		Nonsense_Mutation	SNP	145058587	145058587	11872	8	G	A	A	47	47	PARP10	A	5	2
GLDC	2731	broad.mit.edu	37	9	6604779	6604779	+	Silent	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:6604779C>T	uc003zkc.2	-	7	1060	c.867G>A	c.(865-867)CTG>CTA	p.L289L		NM_000170	NP_000161	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	289					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			ovary(2)	2		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)													---	---	---	---	capture		Silent	SNP	6604779	6604779	6701	9	C	T	T	21	21	GLDC	T	2	2
PTPRD	5789	broad.mit.edu	37	9	8449832	8449832	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:8449832C>A	uc003zkk.2	-	33	4592	c.3881G>T	c.(3880-3882)AGG>ATG	p.R1294M	PTPRD_uc003zkp.2_Missense_Mutation_p.R888M|PTPRD_uc003zkq.2_Missense_Mutation_p.R887M|PTPRD_uc003zkr.2_Missense_Mutation_p.R878M|PTPRD_uc003zks.2_Missense_Mutation_p.R873M|PTPRD_uc003zkl.2_Missense_Mutation_p.R1285M|PTPRD_uc003zkm.2_Missense_Mutation_p.R1281M|PTPRD_uc003zkn.2_Missense_Mutation_p.R883M|PTPRD_uc003zko.2_Missense_Mutation_p.R884M	NM_002839	NP_002830	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1294	Cytoplasmic (Potential).				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)											TSP Lung(15;0.13)			---	---	---	---	capture		Missense_Mutation	SNP	8449832	8449832	13256	9	C	A	A	24	24	PTPRD	A	2	2
HAUS6	54801	broad.mit.edu	37	9	19058888	19058888	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:19058888G>T	uc003znk.2	-	16	2130	c.1877C>A	c.(1876-1878)CCT>CAT	p.P626H	HAUS6_uc011lmz.1_Missense_Mutation_p.P346H|HAUS6_uc003znl.1_Missense_Mutation_p.P490H	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	626					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	19058888	19058888	7252	9	G	T	T	35	35	HAUS6	T	2	2
SMU1	55234	broad.mit.edu	37	9	33053169	33053169	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33053169C>A	uc003zsf.1	-	10	1350	c.1242G>T	c.(1240-1242)GTG>GTT	p.V414V	SMU1_uc010mjo.1_Silent_p.V414V|SMU1_uc010mjp.1_Intron|SMU1_uc011lnu.1_Silent_p.V253V	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog	414	WD 5.					cytoplasm|nucleus				ovary(1)	1			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)														---	---	---	---	capture		Silent	SNP	33053169	33053169	15317	9	C	A	A	21	21	SMU1	A	2	2
VPS13A	23230	broad.mit.edu	37	9	79896842	79896842	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:79896842G>T	uc004akr.2	+	28	3224	c.2964G>T	c.(2962-2964)AAG>AAT	p.K988N	VPS13A_uc004akp.3_Missense_Mutation_p.K988N|VPS13A_uc004akq.3_Missense_Mutation_p.K988N|VPS13A_uc004aks.2_Missense_Mutation_p.K988N	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13A isoform A	988					Golgi to endosome transport|protein transport	intracellular	protein binding			pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10																		---	---	---	---	capture		Missense_Mutation	SNP	79896842	79896842	17756	9	G	T	T	35	35	VPS13A	T	2	2
ZCCHC6	79670	broad.mit.edu	37	9	88968027	88968027	+	Missense_Mutation	SNP	G	T	T	rs149202228		TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:88968027G>T	uc004aoq.2	-	2	303	c.88C>A	c.(88-90)CAA>AAA	p.Q30K	ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.Q30K|ZCCHC6_uc004aou.2_Missense_Mutation_p.Q30K|ZCCHC6_uc004aov.2_Missense_Mutation_p.Q30K|ZCCHC6_uc004aow.2_Missense_Mutation_p.Q30K|ZCCHC6_uc010mqf.1_Missense_Mutation_p.Q30K	NM_024617	NP_078893	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	30					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	88968027	88968027	18180	9	G	T	T	47	47	ZCCHC6	T	2	2
IPPK	64768	broad.mit.edu	37	9	95400369	95400369	+	Missense_Mutation	SNP	C	T	T	rs148738677		TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95400369C>T	uc004asl.1	-	9	1107	c.830G>A	c.(829-831)CGG>CAG	p.R277Q	IPPK_uc004ask.1_5'Flank	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	277					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			ovary(2)	2																		---	---	---	---	capture		Missense_Mutation	SNP	95400369	95400369	8102	9	C	T	T	23	23	IPPK	T	1	1
ZNF462	58499	broad.mit.edu	37	9	109685872	109685872	+	Missense_Mutation	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:109685872G>C	uc004bcz.2	+	2	497	c.208G>C	c.(208-210)GAA>CAA	p.E70Q	ZNF462_uc010mto.2_5'Flank|ZNF462_uc004bda.2_5'Flank	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	zinc finger protein 462	70					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(5)	5																		---	---	---	---	capture		Missense_Mutation	SNP	109685872	109685872	18519	9	G	C	C	33	33	ZNF462	C	3	3
COL27A1	85301	broad.mit.edu	37	9	116930154	116930154	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116930154C>A	uc011lxl.1	+	3	319	c.319C>A	c.(319-321)CAC>AAC	p.H107N	COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_5'UTR	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1 precursor	107	Laminin G-like.|TSP N-terminal.				cell adhesion		extracellular matrix structural constituent			ovary(3)|skin(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	116930154	116930154	3823	9	C	A	A	21	21	COL27A1	A	2	2
FNBP1	23048	broad.mit.edu	37	9	132689609	132689609	+	Silent	SNP	C	T	T	rs41279170		TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:132689609C>T	uc004byw.1	-	8	873	c.654G>A	c.(652-654)GAG>GAA	p.E218E	FNBP1_uc011mbv.1_Silent_p.E218E|FNBP1_uc011mbw.1_Silent_p.E218E|FNBP1_uc004bza.2_Silent_p.E218E|FNBP1_uc004byz.1_Silent_p.E218E|FNBP1_uc004byx.1_Silent_p.E139E|FNBP1_uc004byy.1_Silent_p.E139E	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	formin binding protein 1	218	Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding				0		Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)				T	MLL	AML								---	---	---	---	capture		Silent	SNP	132689609	132689609	6207	9	C	T	T	32	32	FNBP1	T	2	2
C9orf171	389799	broad.mit.edu	37	9	135357713	135357713	+	Nonsense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:135357713C>A	uc004cbn.2	+	2	260	c.212C>A	c.(211-213)TCG>TAG	p.S71*	C9orf171_uc004cbo.2_Intron	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	hypothetical protein LOC389799	71										ovary(4)|large_intestine(1)	5																		---	---	---	---	capture		Nonsense_Mutation	SNP	135357713	135357713	2585	9	C	A	A	31	31	C9orf171	A	5	1
TLR8	51311	broad.mit.edu	37	X	12939343	12939343	+	Silent	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12939343C>A	uc004cve.2	+	2	2252	c.2184C>A	c.(2182-2184)CCC>CCA	p.P728P	TLR8_uc004cvd.2_Silent_p.P746P	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	728	LRR 22.|Extracellular (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			ovary(4)|lung(2)|large_intestine(1)	7																		---	---	---	---	capture		Silent	SNP	12939343	12939343	16487	23	C	A	A	24	24	TLR8	A	2	2
REPS2	9185	broad.mit.edu	37	X	17043189	17043189	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:17043189C>A	uc004cxv.1	+	4	725	c.554C>A	c.(553-555)ACA>AAA	p.T185K	REPS2_uc004cxw.1_Missense_Mutation_p.T184K|REPS2_uc011miw.1_Missense_Mutation_p.T44K	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	185					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			skin(2)|central_nervous_system(1)	3	Hepatocellular(33;0.183)																	---	---	---	---	capture		Missense_Mutation	SNP	17043189	17043189	13698	23	C	A	A	17	17	REPS2	A	2	2
PDHA1	5160	broad.mit.edu	37	X	19368220	19368220	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:19368220G>T	uc004czg.3	+	3	428	c.283G>T	c.(283-285)GAT>TAT	p.D95Y	PDHA1_uc004czh.3_Missense_Mutation_p.D130Y|PDHA1_uc011mjc.1_Missense_Mutation_p.D92Y|PDHA1_uc011mjd.1_Missense_Mutation_p.D92Y|PDHA1_uc010nfk.2_Missense_Mutation_p.D92Y	NM_000284	NP_000275	P08559	ODPA_HUMAN	pyruvate dehydrogenase E1 alpha 1 precursor	95					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			ovary(1)	1	Hepatocellular(33;0.183)				NADH(DB00157)													---	---	---	---	capture		Missense_Mutation	SNP	19368220	19368220	12085	23	G	T	T	45	45	PDHA1	T	2	2
FAM47A	158724	broad.mit.edu	37	X	34149721	34149721	+	Silent	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:34149721C>T	uc004ddg.2	-	1	708	c.675G>A	c.(673-675)CCG>CCA	p.P225P		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	225	Pro-rich.							p.P225P(1)		ovary(4)|central_nervous_system(1)	5																		---	---	---	---	capture		Silent	SNP	34149721	34149721	5790	23	C	T	T	23	23	FAM47A	T	1	1
WAS	7454	broad.mit.edu	37	X	48542273	48542273	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48542273G>T	uc004dkm.3	+	1	88	c.31G>T	c.(31-33)GGG>TGG	p.G11W		NM_000377	NP_000368	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome protein	11					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			ovary(1)	1		all_lung(315;1.27e-10)						Mis|N|F|S			lymphoma			Wiskott-Aldrich_syndrome				---	---	---	---	capture		Missense_Mutation	SNP	48542273	48542273	17823	23	G	T	T	39	39	WAS	T	1	1
GATA1	2623	broad.mit.edu	37	X	48650506	48650506	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:48650506C>A	uc004dkq.3	+	3	567	c.476C>A	c.(475-477)CCC>CAC	p.P159H		NM_002049	NP_002040	P15976	GATA1_HUMAN	GATA binding protein 1	159					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V74_C199del(1)		haematopoietic_and_lymphoid_tissue(246)|lung(2)	248								Mis|F		megakaryoblastic leukemia of Downs Syndrome								---	---	---	---	capture		Missense_Mutation	SNP	48650506	48650506	6517	23	C	A	A	22	22	GATA1	A	2	2
SERPINA7	6906	broad.mit.edu	37	X	105280577	105280577	+	Missense_Mutation	SNP	A	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:105280577A>T	uc004eme.1	-	1	489	c.473T>A	c.(472-474)GTC>GAC	p.V158D	SERPINA7_uc010npd.2_Missense_Mutation_p.V158D|SERPINA7_uc010npe.1_Missense_Mutation_p.V158D	NM_000354	NP_000345	P05543	THBG_HUMAN	serine (or cysteine) proteinase inhibitor, clade	158					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity				0					Levothyroxine(DB00451)|Liothyronine(DB00279)													---	---	---	---	capture		Missense_Mutation	SNP	105280577	105280577	14582	23	A	T	T	10	10	SERPINA7	T	4	4
GUCY2F	2986	broad.mit.edu	37	X	108635314	108635314	+	Silent	SNP	G	C	C			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:108635314G>C	uc004eod.3	-	14	2883	c.2607C>G	c.(2605-2607)CTC>CTG	p.L869L	GUCY2F_uc011msq.1_RNA	NM_001522	NP_001513	P51841	GUC2F_HUMAN	guanylate cyclase 2F precursor	869	Cytoplasmic (Potential).				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			lung(4)|breast(3)|central_nervous_system(1)	8																		---	---	---	---	capture		Silent	SNP	108635314	108635314	7178	23	G	C	C	45	45	GUCY2F	C	3	3
TRPC5	7224	broad.mit.edu	37	X	111025218	111025218	+	Missense_Mutation	SNP	C	G	G			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:111025218C>G	uc004epl.1	-	8	2964	c.2045G>C	c.(2044-2046)TGC>TCC	p.C682S	TRPC5_uc004epm.1_Missense_Mutation_p.C682S	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel,	682	Cytoplasmic (Potential).				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			urinary_tract(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	111025218	111025218	17133	23	C	G	G	25	25	TRPC5	G	3	3
SLC25A14	9016	broad.mit.edu	37	X	129474268	129474268	+	Nonsense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129474268G>T	uc004evn.1	+	2	229	c.16G>T	c.(16-18)GGA>TGA	p.G6*	SLC25A14_uc011mut.1_Intron|SLC25A14_uc011muu.1_Nonsense_Mutation_p.G6*|SLC25A14_uc010nrg.2_Nonsense_Mutation_p.G6*|SLC25A14_uc004evo.1_Intron|SLC25A14_uc004evp.1_Nonsense_Mutation_p.G6*|SLC25A14_uc004evq.1_Nonsense_Mutation_p.G6*|SLC25A14_uc004evr.1_Nonsense_Mutation_p.G6*	NM_003951	NP_003942	O95258	UCP5_HUMAN	solute carrier family 25, member 14 isoform	6					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			ovary(1)	1																		---	---	---	---	capture		Nonsense_Mutation	SNP	129474268	129474268	14973	23	G	T	T	39	39	SLC25A14	T	5	1
RBMX2	51634	broad.mit.edu	37	X	129545364	129545364	+	Missense_Mutation	SNP	C	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:129545364C>T	uc004evt.2	+	5	410	c.346C>T	c.(346-348)CGG>TGG	p.R116W		NM_016024	NP_057108	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	116							nucleotide binding|RNA binding			breast(3)|ovary(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	129545364	129545364	13614	23	C	T	T	31	31	RBMX2	T	1	1
PLAC1	10761	broad.mit.edu	37	X	133700715	133700715	+	Translation_Start_Site	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:133700715C>A	uc004exo.1	-	3	284	c.-2G>T	c.(-4-0)CAGGG>CATGG		PLAC1_uc004exp.1_Translation_Start_Site	NM_021796	NP_068568			placenta-specific 1 precursor						placenta development	extracellular region				pancreas(1)	1	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Translation_Start_Site	SNP	133700715	133700715	12438	23	C	A	A	24	24	PLAC1	A	2	2
SAGE1	55511	broad.mit.edu	37	X	134988236	134988236	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:134988236C>A	uc004ezh.2	+	6	675	c.508C>A	c.(508-510)CAA>AAA	p.Q170K	SAGE1_uc010nry.1_Missense_Mutation_p.Q139K|SAGE1_uc011mvv.1_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	170										ovary(2)|skin(1)	3	Acute lymphoblastic leukemia(192;0.000127)																	---	---	---	---	capture		Missense_Mutation	SNP	134988236	134988236	14289	23	C	A	A	21	21	SAGE1	A	2	2
MAGEA10	4109	broad.mit.edu	37	X	151303874	151303874	+	Missense_Mutation	SNP	C	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:151303874C>A	uc004ffk.2	-	5	627	c.219G>T	c.(217-219)GAG>GAT	p.E73D	MAGEA10_uc004ffl.2_Missense_Mutation_p.E73D	NM_001011543	NP_001011543	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	73											0	Acute lymphoblastic leukemia(192;6.56e-05)																	---	---	---	---	capture		Missense_Mutation	SNP	151303874	151303874	9541	23	C	A	A	24	24	MAGEA10	A	2	2
AVPR2	554	broad.mit.edu	37	X	153171522	153171522	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153171522G>T	uc004fjh.3	+	2	633	c.562G>T	c.(562-564)GGG>TGG	p.G188W	AVPR2_uc004fjg.3_5'UTR|AVPR2_uc004fji.2_Missense_Mutation_p.G188W	NM_000054	NP_000045	P30518	V2R_HUMAN	arginine vasopressin receptor 2 isoform 1	188	Extracellular (Potential).				activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)	1	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)													---	---	---	---	capture		Missense_Mutation	SNP	153171522	153171522	1254	23	G	T	T	39	39	AVPR2	T	1	1
DNASE1L1	1774	broad.mit.edu	37	X	153631373	153631373	+	Silent	SNP	G	A	A			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153631373G>A	uc004fks.1	-	7	875	c.684C>T	c.(682-684)CGC>CGT	p.R228R	RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron|DNASE1L1_uc004fkt.1_Silent_p.R228R|DNASE1L1_uc004fku.1_Silent_p.R228R|DNASE1L1_uc004fkv.1_Silent_p.R228R|DNASE1L1_uc004fkw.1_Silent_p.R228R	NM_006730	NP_006721	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1 precursor	228					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters				0	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		Silent	SNP	153631373	153631373	4844	23	G	A	A	38	38	DNASE1L1	A	1	1
MPP1	4354	broad.mit.edu	37	X	154014623	154014623	+	Missense_Mutation	SNP	G	T	T			TCGA-18-3410-01	TCGA-18-3410-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:154014623G>T	uc004fmp.1	-	6	648	c.533C>A	c.(532-534)CCT>CAT	p.P178H	MPP1_uc010nvg.1_Intron|MPP1_uc011mzv.1_Missense_Mutation_p.P148H|MPP1_uc004fmq.1_Missense_Mutation_p.P132H|MPP1_uc011mzw.1_Missense_Mutation_p.P161H|MPP1_uc010nvh.1_Missense_Mutation_p.P52H	NM_002436	NP_002427	Q00013	EM55_HUMAN	palmitoylated membrane protein 1	178	SH3.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			ovary(2)|central_nervous_system(1)	3	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)																	---	---	---	---	capture		Missense_Mutation	SNP	154014623	154014623	10125	23	G	T	T	35	35	MPP1	T	2	2
