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
RGS7	6000	broad.mit.edu	37	1	240976973	240976974	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:240976973_240976974CA>AG	uc001hyv.2	-	13	1230_1231	c.900_901TG>CT	c.(898-903)CCTGAC>CCCTAC	p.D301Y	RGS7_uc010pyh.1_Missense_Mutation_p.D275Y|RGS7_uc010pyj.1_Missense_Mutation_p.D217Y|RGS7_uc001hyu.2_Missense_Mutation_p.D301Y|RGS7_uc009xgn.1_Missense_Mutation_p.D248Y|RGS7_uc001hyw.2_Missense_Mutation_p.D301Y|RGS7_uc001hyt.2_Missense_Mutation_p.D133Y	NM_002924	NP_002915	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	301	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			ovary(4)|skin(2)|kidney(1)	7		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)															---	---	---	---	capture+wgs		Missense	DNP	240976973	240976974	13784	1	CA	AG	AG	29	29	RGS7	AG	2	2
MRGPRX1	259249	broad.mit.edu	37	11	18956282	18956283	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:18956283C>A	uc001mpg.2	-	1	267	c.49G>T	c.(49-51)GGA>TGA	p.G17*		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	17	Extracellular (Potential).				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			pancreas(2)|central_nervous_system(1)	3																		---	---	---	---	capture+wgs		Missense	DNP	18956282	18956283	10159	11	CC	AA	AA	30	30	MRGPRX1	AA	2	2
C12orf41	54934	broad.mit.edu	37	12	49048747	49048748	+	Indel	INS	-	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:49048747_49048748insA	uc001rrx.2	-	9	1398_1399	c.1323_1324insT	c.(1321-1326)ATTGCTfs	p.I441fs	C12orf41_uc001rrw.2_Frame_Shift_Ins_p.I212fs|C12orf41_uc001rrz.2_Frame_Shift_Ins_p.I624fs|C12orf41_uc001rry.2_RNA|C12orf41_uc001rru.2_Frame_Shift_Ins_p.I72fs|C12orf41_uc001rrv.2_Frame_Shift_Ins_p.I125fs|SNORA34_uc001rsa.1_5'Flank|MIR1291_hsa-mir-1291|MI0006353_5'Flank	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	hypothetical protein LOC54934	441_442										ovary(2)	2																		---	---	---	---	capture_indel		Indel	Indel	49048747	49048748	1731	12	--	A	A	25	25	C12orf41	A	5	5
MSLNL	401827	broad.mit.edu	37	16	820927	820927	+	Frame_Shift_Del	DEL	G	-	-			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:820927delG	uc002cjz.1	-	13	2458	c.2458delC	c.(2458-2460)CAGfs	p.Q820fs		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	mesothelin-like	469	Extracellular (Potential).				cell adhesion	integral to membrane				breast(3)|ovary(1)	4																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	820927	820927	10275	16	G	-	-	47	47	MSLNL	-	5	5
INO80E	283899	broad.mit.edu	37	16	30007665	30007665	+	Frame_Shift_Del	DEL	A	-	-			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30007665delA	uc002dvg.1	+	1	135	c.34delA	c.(34-36)AAAfs	p.K12fs	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_RNA|INO80E_uc002dvi.1_Frame_Shift_Del_p.K12fs|INO80E_uc002dvj.1_RNA|INO80E_uc002dvk.1_Frame_Shift_Del_p.K12fs|HIRIP3_uc002dve.2_5'Flank|HIRIP3_uc002dvf.2_5'Flank	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	INO80 complex subunit E	12	Potential.				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				skin(1)	1																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	30007665	30007665	8051	16	A	-	-	5	5	INO80E	-	5	5
OTOF	9381	broad.mit.edu	37	2	26697491	26697491	+	Indel	DEL	C	-	-			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26697491delC	uc002rhk.2	-	26	3305	c.3178delG	c.(3178-3180)GCAfs	p.A1060fs	OTOF_uc010yla.1_5'Flank|OTOF_uc002rhh.2_Frame_Shift_Del_p.A313fs|OTOF_uc002rhi.2_Frame_Shift_Del_p.A370fs|OTOF_uc002rhj.2_Frame_Shift_Del_p.A313fs	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	otoferlin isoform a	1060	Cytoplasmic (Potential).				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture_indel		Indel	Indel	26697491	26697491	11715	2	C	-	-	26	26	OTOF	-	5	5
DGCR6	8214	broad.mit.edu	37	22	18897772	18897773	+	Indel	INS	-	GC	GC			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:18897772_18897773insGC	uc002zoh.3	+	3	511_512	c.359_360insGC	c.(358-360)CAGfs	p.Q120fs	DGCR6_uc002zog.2_RNA|DGCR6_uc002zoi.3_RNA	NM_005675	NP_005666	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region protein 6	120	Potential.				cell adhesion|organ morphogenesis	nucleus|proteinaceous extracellular matrix				upper_aerodigestive_tract(1)|central_nervous_system(1)	2																		---	---	---	---	capture_indel		Indel	Indel	18897772	18897773	4641	22	--	GC	GC	7	7	DGCR6	GC	5	5
PCDHGA9	56107	broad.mit.edu	37	5	140783285	140783285	+	Indel	DEL	C	-	-	rs77227638	byFrequency;by1000genomes	TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140783285delC	uc003lkh.1	+	1	766	c.766delC	c.(766-768)CCCfs	p.P256fs	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Frame_Shift_Del_p.P256fs	NM_018921	NP_061744	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9 isoform 1	256	Cadherin 3.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture_indel		Indel	Indel	140783285	140783285	11981	5	C	-	-	26	26	PCDHGA9	-	5	5
GGCT	79017	broad.mit.edu	37	7	30544197	30544198	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:30544197_30544198delCA	uc003tba.2	-	1	255_256	c.128_129delTG	c.(127-129)GTGfs	p.V43fs	GGCT_uc003tbb.2_Frame_Shift_Del_p.V43fs|GGCT_uc003tbc.2_RNA	NM_024051	NP_076956	O75223	GGCT_HUMAN	gamma-glutamyl cyclotransferase	43					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity				0																		---	---	---	---	capture_indel		Frame_Shift_Del	DEL	30544197	30544198	6623	7	CA	-	-	21	21	GGCT	-	5	5
C12orf52	84934	broad.mit.edu	37	12	113624824	113624825	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:113624824_113624825CC>TT	uc001tut.1	+			c.345_346CC>TT	c.(343-348)ACCCTC>ACTTTC	p.L116F	DDX54_uc001tuq.3_5'Flank|DDX54_uc001tup.2_5'Flank|C12orf52_uc009zwg.1_Missense_Mutation_p.L92F|C12orf52_uc001tur.1_Missense_Mutation_p.L92F|C12orf52_uc001tus.1_Missense_Mutation_p.L92F	NM_032848	NP_116237	Q96K30	RITA_HUMAN	hypothetical protein LOC84934	92	Nuclear localization signal.				negative regulation of gene-specific transcription from RNA polymerase II promoter|negative regulation of Notch signaling pathway|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding				0																		---	---	---	---	wgs		Missense_Mutation	DNP	113624824	113624825	1741	12	CC	TT	TT	22	22	C12orf52	TT	2	2
ZNF683	257101	broad.mit.edu	37	1	26691405	26691406	+	Missense_Mutation	DNP	AG	GT	GT			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:26691405_26691406AG>GT	uc001bmg.1	-			c.631_632CT>AC	c.(631-633)CTA>ACA	p.L211T	ZNF683_uc001bmh.1_Missense_Mutation_p.L211T|ZNF683_uc009vsj.1_Missense_Mutation_p.L211T	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	zinc finger protein 683	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)														---	---	---	---	wgs		Missense_Mutation	DNP	26691405	26691406	18685	1	AG	GT	GT	15	15	ZNF683	GT	4	4
SUSD2	56241	broad.mit.edu	37	22	24579157	24579158	+	Missense_Mutation	DNP	GA	TC	TC			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:24579157_24579158GA>TC	uc002zzn.1	+			c.209_210GA>TC	c.(208-210)GGA>GTC	p.G70V		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2 precursor	70	Extracellular (Potential).				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity				0																		---	---	---	---	wgs		Missense_Mutation	DNP	24579157	24579158	15928	22	GA	TC	TC	41	41	SUSD2	TC	2	2
ARHGEF16	27237	broad.mit.edu	37	1	3389705	3389705	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:3389705C>T	uc001akg.3	+	7	1334	c.1086C>T	c.(1084-1086)ATC>ATT	p.I362I	ARHGEF16_uc001aki.2_Silent_p.I74I|ARHGEF16_uc001akj.2_Silent_p.I74I|ARHGEF16_uc009vli.1_Silent_p.I66I|ARHGEF16_uc010nzh.1_Silent_p.I66I	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Rho guanine exchange factor 16	362	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+wgs		Silent	SNP	3389705	3389705	913	1	C	T	T	30	30	ARHGEF16	T	2	2
UBE4B	10277	broad.mit.edu	37	1	10228233	10228233	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:10228233G>A	uc001aqs.3	+	24	3951	c.3238G>A	c.(3238-3240)GAG>AAG	p.E1080K	UBE4B_uc001aqr.3_Missense_Mutation_p.E951K|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.E535K|UBE4B_uc001aqu.2_5'Flank	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	ubiquitination factor E4B isoform 1	1080					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			ovary(2)|skin(2)	4		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	10228233	10228233	17441	1	G	A	A	45	45	UBE4B	A	2	2
C1orf127	148345	broad.mit.edu	37	1	11015097	11015097	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:11015097T>C	uc010oao.1	-	5	483	c.478A>G	c.(478-480)AAG>GAG	p.K160E	C1orf127_uc001arr.1_Missense_Mutation_p.K142E|C1orf127_uc001ars.1_Missense_Mutation_p.K160E	NM_173507	NP_775778	B7ZLG7	B7ZLG7_HUMAN	hypothetical protein LOC148345	160										ovary(1)	1	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	11015097	11015097	2061	1	T	C	C	63	63	C1orf127	C	4	4
VPS13D	55187	broad.mit.edu	37	1	12364751	12364751	+	Silent	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:12364751C>A	uc001atv.2	+	26	6546	c.6405C>A	c.(6403-6405)CCC>CCA	p.P2135P	VPS13D_uc001atw.2_Silent_p.P2135P|VPS13D_uc001atx.2_Silent_p.P1323P	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13D isoform 1	2135					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		Silent	SNP	12364751	12364751	17759	1	C	A	A	21	21	VPS13D	A	2	2
CELA2A	63036	broad.mit.edu	37	1	15792535	15792535	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:15792535C>G	uc001awk.2	+	6	561	c.535C>G	c.(535-537)CTG>GTG	p.L179V		NM_033440	NP_254275	P08217	CEL2A_HUMAN	elastase 2A preproprotein	179	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			ovary(2)	2																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	15792535	15792535	3344	1	C	G	G	28	28	CELA2A	G	3	3
UBR4	23352	broad.mit.edu	37	1	19491316	19491316	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:19491316G>T	uc001bbi.2	-	32	4492	c.4488C>A	c.(4486-4488)ACC>ACA	p.T1496T	UBR4_uc001bbm.1_Silent_p.T707T	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	retinoblastoma-associated factor 600	1496					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)														---	---	---	---	capture		Silent	SNP	19491316	19491316	17462	1	G	T	T	47	47	UBR4	T	2	2
ECE1	1889	broad.mit.edu	37	1	21571587	21571587	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:21571587G>A	uc001bek.2	-	10	1248	c.1173C>T	c.(1171-1173)AAC>AAT	p.N391N	ECE1_uc001bem.2_Silent_p.N375N|ECE1_uc001bej.2_Silent_p.N379N|ECE1_uc001bei.2_Silent_p.N388N|ECE1_uc010odl.1_Silent_p.N391N|ECE1_uc009vqa.1_Silent_p.N391N	NM_001397	NP_001388	P42892	ECE1_HUMAN	endothelin converting enzyme 1 isoform 1	391	Extracellular (Potential).				bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			ovary(2)|skin(1)	3		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)												OREG0013200	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture+wgs		Silent	SNP	21571587	21571587	5076	1	G	A	A	48	48	ECE1	A	2	2
CELA3A	10136	broad.mit.edu	37	1	22336303	22336303	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:22336303C>T	uc001bfl.2	+	7	767	c.748C>T	c.(748-750)CCC>TCC	p.P250S		NM_005747	NP_005738	P09093	CEL3A_HUMAN	elastase 3A, pancreatic preproprotein	250	Peptidase S1.				cholesterol metabolic process|digestion|proteolysis		serine-type endopeptidase activity			haematopoietic_and_lymphoid_tissue(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	22336303	22336303	3346	1	C	T	T	26	26	CELA3A	T	2	2
OPRD1	4985	broad.mit.edu	37	1	29189343	29189343	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:29189343G>A	uc001brf.1	+	3	909	c.667G>A	c.(667-669)GTG>ATG	p.V223M		NM_000911	NP_000902	P41143	OPRD_HUMAN	opioid receptor, delta 1	223	Helical; Name=5; (Potential).				immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			ovary(1)|central_nervous_system(1)	2		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	29189343	29189343	11290	1	G	A	A	40	40	OPRD1	A	1	1
DLGAP3	58512	broad.mit.edu	37	1	35334530	35334530	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:35334530G>T	uc001byc.2	-	7	2161	c.2161C>A	c.(2161-2163)CGG>AGG	p.R721R		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated	721					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				ovary(3)	3		Myeloproliferative disorder(586;0.0393)																---	---	---	---	capture		Silent	SNP	35334530	35334530	4741	1	G	T	T	39	39	DLGAP3	T	1	1
EIF2C3	192669	broad.mit.edu	37	1	36509055	36509055	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36509055G>T	uc001bzp.2	+	17	2436	c.2180G>T	c.(2179-2181)AGA>ATA	p.R727I	EIF2C3_uc001bzq.2_Missense_Mutation_p.R493I	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	727	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---	capture+wgs		Missense_Mutation	SNP	36509055	36509055	5196	1	G	T	T	33	33	EIF2C3	T	2	2
EIF2C3	192669	broad.mit.edu	37	1	36509093	36509093	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:36509093G>T	uc001bzp.2	+	17	2474	c.2218G>T	c.(2218-2220)GAC>TAC	p.D740Y	EIF2C3_uc001bzq.2_Missense_Mutation_p.D506Y	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	eukaryotic translation initiation factor 2C, 3	740	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding				0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)																---	---	---	---	capture+wgs		Missense_Mutation	SNP	36509093	36509093	5196	1	G	T	T	33	33	EIF2C3	T	2	2
CDCA8	55143	broad.mit.edu	37	1	38171130	38171130	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:38171130G>A	uc001cbr.2	+	9	709	c.602G>A	c.(601-603)GGC>GAC	p.G201D	CDCA8_uc001cbs.2_Missense_Mutation_p.G201D|CDCA8_uc010oih.1_Missense_Mutation_p.G134D	NM_018101	NP_060571	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	201					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)	1		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)																---	---	---	---	capture+wgs		Missense_Mutation	SNP	38171130	38171130	3221	1	G	A	A	42	42	CDCA8	A	2	2
MAST2	23139	broad.mit.edu	37	1	46488582	46488582	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:46488582A>G	uc001cov.2	+	13	1707	c.1424A>G	c.(1423-1425)GAA>GGA	p.E475G	MAST2_uc001cow.2_Missense_Mutation_p.E475G|MAST2_uc001coy.1_Missense_Mutation_p.E149G|MAST2_uc001coz.1_Missense_Mutation_p.E360G|MAST2_uc009vya.2_Missense_Mutation_p.E397G|MAST2_uc001cpa.2_RNA	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase	475					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			ovary(5)|lung(3)|stomach(2)|breast(1)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	46488582	46488582	9709	1	A	G	G	9	9	MAST2	G	4	4
PGM1	5236	broad.mit.edu	37	1	64097450	64097450	+	Nonsense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:64097450G>T	uc001dbh.2	+	4	892	c.679G>T	c.(679-681)GGA>TGA	p.G227*	PGM1_uc010ooy.1_Nonsense_Mutation_p.G30*|PGM1_uc010ooz.1_Nonsense_Mutation_p.G245*	NM_002633	NP_002624	P36871	PGM1_HUMAN	phosphoglucomutase 1	227					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			ovary(2)|kidney(1)	3																		---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	64097450	64097450	12220	1	G	T	T	47	47	PGM1	T	5	2
ROR1	4919	broad.mit.edu	37	1	64644214	64644214	+	Silent	SNP	G	A	A	rs146764088	byFrequency	TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:64644214G>A	uc001dbj.2	+	9	2889	c.2490G>A	c.(2488-2490)GCG>GCA	p.A830A	uc001dbm.2_5'Flank	NM_005012	NP_005003	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	830	Cytoplasmic (Potential).|Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19																		---	---	---	---	capture+wgs		Silent	SNP	64644214	64644214	14005	1	G	A	A	40	40	ROR1	A	1	1
TNNI3K	51086	broad.mit.edu	37	1	74929215	74929215	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:74929215G>A	uc001dgf.1	+	21	2153	c.2102G>A	c.(2101-2103)GGG>GAG	p.G701E	TNNI3K_uc001dgd.2_Missense_Mutation_p.G802E|TNNI3K_uc001dge.1_Missense_Mutation_p.G802E	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN	TNNI3 interacting kinase isoform b	701	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding			large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	74929215	74929215	16870	1	G	A	A	43	43	TNNI3K	A	2	2
C1orf173	127254	broad.mit.edu	37	1	75065437	75065437	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:75065437G>T	uc001dgg.2	-	11	1887	c.1668C>A	c.(1666-1668)GAC>GAA	p.D556E	uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.D350E	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	hypothetical protein LOC127254	556	Glu-rich.									ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	75065437	75065437	2081	1	G	T	T	48	48	C1orf173	T	2	2
ST6GALNAC5	81849	broad.mit.edu	37	1	77510258	77510258	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:77510258C>A	uc001dhi.2	+	3	806	c.631C>A	c.(631-633)CAG>AAG	p.Q211K	ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	sialyltransferase 7E	211	Lumenal (Potential).				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			pancreas(1)|skin(1)	2																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	77510258	77510258	15745	1	C	A	A	25	25	ST6GALNAC5	A	2	2
GBP4	115361	broad.mit.edu	37	1	89652027	89652027	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:89652027G>C	uc001dnb.2	-	10	1812	c.1696C>G	c.(1696-1698)CAC>GAC	p.H566D		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	566	Potential.					cytoplasm	GTP binding|GTPase activity				0				all cancers(265;0.00723)|Epithelial(280;0.0291)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	89652027	89652027	6542	1	G	C	C	48	48	GBP4	C	3	3
DPYD	1806	broad.mit.edu	37	1	98165061	98165061	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:98165061G>A	uc001drv.2	-	6	663	c.526C>T	c.(526-528)CTG>TTG	p.L176L	DPYD_uc010oub.1_RNA	NM_000110	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase isoform 1	176					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			ovary(3)|skin(3)|breast(2)	8		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)													---	---	---	---	capture+wgs		Silent	SNP	98165061	98165061	4929	1	G	A	A	34	34	DPYD	A	2	2
RSBN1	54665	broad.mit.edu	37	1	114340245	114340245	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114340245G>T	uc001edq.2	-	2	1153	c.1117C>A	c.(1117-1119)CTT>ATT	p.L373I	RSBN1_uc001edr.2_RNA	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	373						nucleus				ovary(1)	1	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---	capture		Missense_Mutation	SNP	114340245	114340245	14176	1	G	T	T	35	35	RSBN1	T	2	2
HIPK1	204851	broad.mit.edu	37	1	114504975	114504975	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:114504975C>A	uc001eem.2	+	9	2179	c.2018C>A	c.(2017-2019)CCT>CAT	p.P673H	HIPK1_uc001eel.2_Missense_Mutation_p.P673H|HIPK1_uc001een.2_Missense_Mutation_p.P673H|HIPK1_uc001eeo.2_Missense_Mutation_p.P299H|HIPK1_uc001eep.2_Missense_Mutation_p.P279H|HIPK1_uc001eeq.2_5'Flank	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN	homeodomain-interacting protein kinase 1 isoform	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(4)	4	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---	capture		Missense_Mutation	SNP	114504975	114504975	7401	1	C	A	A	24	24	HIPK1	A	2	2
DENND2C	163259	broad.mit.edu	37	1	115137122	115137122	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115137122G>C	uc001efd.1	-	18	3105	c.2403C>G	c.(2401-2403)ATC>ATG	p.I801M	DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.I744M	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	801										skin(3)	3	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	115137122	115137122	4609	1	G	C	C	33	33	DENND2C	C	3	3
AMPD1	270	broad.mit.edu	37	1	115218239	115218239	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:115218239G>T	uc001efe.1	-	12	1675	c.1591C>A	c.(1591-1593)CAG>AAG	p.Q531K	AMPD1_uc001eff.1_Missense_Mutation_p.Q527K	NM_000036	NP_000027	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1 (isoform M)	531					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			ovary(2)|large_intestine(1)|skin(1)	4	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)													---	---	---	---	capture		Missense_Mutation	SNP	115218239	115218239	588	1	G	T	T	47	47	AMPD1	T	2	2
MAN1A2	10905	broad.mit.edu	37	1	118003163	118003163	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:118003163G>A	uc001ehd.1	+	7	1724	c.1003G>A	c.(1003-1005)GAA>AAA	p.E335K	MAN1A2_uc009whg.1_Missense_Mutation_p.E125K	NM_006699	NP_006690	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	335	Lumenal (Potential).				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity				0	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	118003163	118003163	9594	1	G	A	A	45	45	MAN1A2	A	2	2
MTMR11	10903	broad.mit.edu	37	1	149906927	149906927	+	Silent	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:149906927C>A	uc001etl.3	-	5	671	c.420G>T	c.(418-420)CTG>CTT	p.L140L	MTMR11_uc001etm.1_Silent_p.L68L|MTMR11_uc010pbm.1_Silent_p.L112L|MTMR11_uc010pbn.1_5'UTR	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	myotubularin related protein 11 isoform a	140							phosphatase activity			central_nervous_system(1)	1	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)															---	---	---	---	capture+wgs		Silent	SNP	149906927	149906927	10333	1	C	A	A	25	25	MTMR11	A	2	2
POGZ	23126	broad.mit.edu	37	1	151378669	151378669	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151378669C>A	uc001eyd.1	-	19	3148	c.2842G>T	c.(2842-2844)GGG>TGG	p.G948W	POGZ_uc001eye.1_Missense_Mutation_p.G895W|POGZ_uc010pdb.1_Missense_Mutation_p.G939W|POGZ_uc001eyf.1_Missense_Mutation_p.G904W|POGZ_uc010pdc.1_Missense_Mutation_p.G886W|POGZ_uc009wmv.1_Missense_Mutation_p.G853W|POGZ_uc010pdd.1_Missense_Mutation_p.G439W	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	948					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---	capture		Missense_Mutation	SNP	151378669	151378669	12614	1	C	A	A	24	24	POGZ	A	2	2
POGZ	23126	broad.mit.edu	37	1	151396679	151396679	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:151396679G>T	uc001eyd.1	-	9	1575	c.1269C>A	c.(1267-1269)CCC>CCA	p.P423P	POGZ_uc001eye.1_Silent_p.P370P|POGZ_uc010pdb.1_Silent_p.P414P|POGZ_uc001eyf.1_Silent_p.P370P|POGZ_uc010pdc.1_Silent_p.P361P|POGZ_uc009wmv.1_Silent_p.P328P|POGZ_uc010pdd.1_Intron	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	423					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			ovary(3)	3	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)															---	---	---	---	capture		Silent	SNP	151396679	151396679	12614	1	G	T	T	43	43	POGZ	T	2	2
FLG	2312	broad.mit.edu	37	1	152279085	152279085	+	Silent	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152279085A>G	uc001ezu.1	-	3	8313	c.8277T>C	c.(8275-8277)ACT>ACC	p.T2759T		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	2759	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)											Ichthyosis				---	---	---	---	capture+wgs		Silent	SNP	152279085	152279085	6160	1	A	G	G	15	15	FLG	G	4	4
KPRP	448834	broad.mit.edu	37	1	152732698	152732698	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152732698C>T	uc001fal.1	+	2	692	c.634C>T	c.(634-636)CCT>TCT	p.P212S		NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	212						cytoplasm				ovary(4)|pancreas(1)	5	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	152732698	152732698	8751	1	C	T	T	26	26	KPRP	T	2	2
DCST2	127579	broad.mit.edu	37	1	155006051	155006051	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:155006051G>A	uc001fgm.2	-	1	207	c.127C>T	c.(127-129)CTG>TTG	p.L43L	DCST2_uc009wpb.2_RNA|DCST1_uc010per.1_5'Flank|DCST1_uc001fgn.1_5'Flank|DCST1_uc010pes.1_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	43	Helical; (Potential).					integral to membrane				ovary(2)|central_nervous_system(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)															---	---	---	---	capture+wgs		Silent	SNP	155006051	155006051	4474	1	G	A	A	33	33	DCST2	A	2	2
SPTA1	6708	broad.mit.edu	37	1	158614993	158614993	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:158614993C>A	uc001fst.1	-	29	4378	c.4179G>T	c.(4177-4179)CAG>CAT	p.Q1393H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1393	Spectrin 13.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8	all_hematologic(112;0.0378)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	158614993	158614993	15630	1	C	A	A	20	20	SPTA1	A	2	2
TAGLN2	8407	broad.mit.edu	37	1	159889626	159889626	+	Splice_Site	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:159889626C>A	uc001fum.1	-	2	231	c.181_splice	c.e2-1	p.V61_splice	CCDC19_uc001ful.2_Intron|TAGLN2_uc001fun.1_Splice_Site_p.V61_splice|TAGLN2_uc001fuo.1_Splice_Site_p.V61_splice|TAGLN2_uc010piy.1_3'UTR	NM_003564	NP_003555			transgelin 2						muscle organ development	nuclear membrane|plasma membrane	protein binding				0	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)															---	---	---	---	capture		Splice_Site	SNP	159889626	159889626	16060	1	C	A	A	24	24	TAGLN2	A	5	2
CD244	51744	broad.mit.edu	37	1	160801188	160801188	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:160801188G>C	uc009wtq.2	-	9	1240	c.1062C>G	c.(1060-1062)AAC>AAG	p.N354K	CD244_uc001fxa.2_Missense_Mutation_p.N349K|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.N257K	NM_016382	NP_057466	Q9BZW8	CD244_HUMAN	CD244 natural killer cell receptor 2B4	354	Cytoplasmic (Potential).				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			ovary(1)	1	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	160801188	160801188	3115	1	G	C	C	44	44	CD244	C	3	3
USP21	27005	broad.mit.edu	37	1	161132464	161132464	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:161132464A>T	uc010pke.1	+	6	1218	c.841A>T	c.(841-843)ACT>TCT	p.T281S	USP21_uc010pkc.1_Missense_Mutation_p.T281S|USP21_uc010pkd.1_Missense_Mutation_p.T281S|USP21_uc010pkf.1_Missense_Mutation_p.T281S	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	ubiquitin-specific protease 21	281					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(2)|lung(1)|prostate(1)|breast(1)	5	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	161132464	161132464	17616	1	A	T	T	14	14	USP21	T	4	4
ALDH9A1	223	broad.mit.edu	37	1	165667753	165667753	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:165667753G>A	uc001gdh.1	-	1	148	c.43C>T	c.(43-45)CGC>TGC	p.R15C	uc001gdi.2_5'Flank|ALDH9A1_uc010pky.1_5'UTR|ALDH9A1_uc010pkz.1_Missense_Mutation_p.R15C|ALDH9A1_uc010pla.1_5'UTR	NM_000696	NP_000687	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9A1	Error:Variant_position_missing_in_P49189_after_alignment					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity				0	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	165667753	165667753	509	1	G	A	A	37	37	ALDH9A1	A	1	1
FMO1	2326	broad.mit.edu	37	1	171227315	171227315	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171227315G>A	uc009wvz.2	+	2	225	c.89G>A	c.(88-90)TGC>TAC	p.C30Y	FMO1_uc010pme.1_Missense_Mutation_p.C30Y|FMO1_uc001ghl.2_Missense_Mutation_p.C30Y|FMO1_uc001ghm.2_Missense_Mutation_p.C30Y|FMO1_uc001ghn.2_Missense_Mutation_p.C30Y	NM_002021	NP_002012	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	30					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			skin(1)	1	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	171227315	171227315	6196	1	G	A	A	46	46	FMO1	A	2	2
BAT2L2	23215	broad.mit.edu	37	1	171514650	171514650	+	Missense_Mutation	SNP	G	T	T	rs145240147		TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:171514650G>T	uc010pmg.1	+	17	5056	c.4790G>T	c.(4789-4791)GGG>GTG	p.G1597V	BAT2L2_uc010pmh.1_Missense_Mutation_p.G574V	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	HBxAg transactivated protein 2	1597							protein C-terminus binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	171514650	171514650	1342	1	G	T	T	43	43	BAT2L2	T	2	2
RFWD2	64326	broad.mit.edu	37	1	176153775	176153775	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176153775C>T	uc001gku.1	-	2	717	c.461G>A	c.(460-462)AGC>AAC	p.S154N	RFWD2_uc001gkv.1_Missense_Mutation_p.S154N|RFWD2_uc001gkw.1_5'UTR|RFWD2_uc001gkt.1_Missense_Mutation_p.S13N	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2 isoform a	154	RING-type.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	176153775	176153775	13732	1	C	T	T	28	28	RFWD2	T	2	2
ASTN1	460	broad.mit.edu	37	1	176918373	176918373	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176918373T>A	uc001glc.2	-	12	2214	c.2002A>T	c.(2002-2004)ATG>TTG	p.M668L	ASTN1_uc001glb.1_Missense_Mutation_p.M668L|ASTN1_uc001gld.1_Missense_Mutation_p.M668L|ASTN1_uc009wwx.1_Missense_Mutation_p.M668L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	676	EGF-like 3.				cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15																OREG0014004	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture+wgs		Missense_Mutation	SNP	176918373	176918373	1083	1	T	A	A	50	50	ASTN1	A	4	4
ASTN1	460	broad.mit.edu	37	1	176934344	176934344	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:176934344C>A	uc001glc.2	-	9	1765	c.1553G>T	c.(1552-1554)GGC>GTC	p.G518V	ASTN1_uc001glb.1_Missense_Mutation_p.G518V|ASTN1_uc001gld.1_Missense_Mutation_p.G518V|ASTN1_uc009wwx.1_Missense_Mutation_p.G518V	NM_004319	NP_004310	O14525	ASTN1_HUMAN	astrotactin isoform 1	526					cell migration|neuron cell-cell adhesion	integral to membrane				ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	176934344	176934344	1083	1	C	A	A	26	26	ASTN1	A	2	2
CACNA1E	777	broad.mit.edu	37	1	181765947	181765947	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:181765947C>A	uc001gow.2	+	46	6388	c.6223C>A	c.(6223-6225)CAA>AAA	p.Q2075K	CACNA1E_uc009wxs.2_Missense_Mutation_p.Q1963K|CACNA1E_uc009wxt.2_Missense_Mutation_p.Q1344K	NM_000721	NP_000712	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type,	2118	Cytoplasmic (Potential).				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			ovary(3)|central_nervous_system(2)|pancreas(1)	6																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	181765947	181765947	2658	1	C	A	A	29	29	CACNA1E	A	2	2
HMCN1	83872	broad.mit.edu	37	1	186064508	186064508	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186064508G>T	uc001grq.1	+	68	10657	c.10428G>T	c.(10426-10428)CTG>CTT	p.L3476L		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	3476	Ig-like C2-type 33.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23																		---	---	---	---	capture		Silent	SNP	186064508	186064508	7511	1	G	T	T	47	47	HMCN1	T	2	2
TPR	7175	broad.mit.edu	37	1	186291483	186291483	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:186291483G>T	uc001grv.2	-	45	6725	c.6428C>A	c.(6427-6429)CCA>CAA	p.P2143Q		NM_003292	NP_003283	P12270	TPR_HUMAN	nuclear pore complex-associated protein TPR	2143					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)				T	NTRK1	papillary thyroid								---	---	---	---	capture		Missense_Mutation	SNP	186291483	186291483	16960	1	G	T	T	47	47	TPR	T	2	2
SYT2	127833	broad.mit.edu	37	1	202568477	202568477	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:202568477G>C	uc001gye.2	-	8	1115	c.922C>G	c.(922-924)CCG>GCG	p.P308A	SYT2_uc010pqb.1_Missense_Mutation_p.P308A|SYT2_uc009xaf.2_Missense_Mutation_p.P138A	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	synaptotagmin II	308	Phospholipid binding (By similarity).|C2 2.|Cytoplasmic (Potential).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			ovary(2)|skin(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	202568477	202568477	15995	1	G	C	C	43	43	SYT2	C	3	3
AVPR1B	553	broad.mit.edu	37	1	206230826	206230826	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206230826T>A	uc001hds.2	+	2	1117	c.959T>A	c.(958-960)TTC>TAC	p.F320Y		NM_000707	NP_000698	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	320	Extracellular (Potential).				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			ovary(2)|large_intestine(1)	3			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	206230826	206230826	1253	1	T	A	A	62	62	AVPR1B	A	4	4
IL10	3586	broad.mit.edu	37	1	206944738	206944738	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:206944738T>C	uc001hen.1	-	2	247	c.188A>G	c.(187-189)AAC>AGC	p.N63S		NM_000572	NP_000563	P22301	IL10_HUMAN	interleukin 10 precursor	63					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding				0	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	206944738	206944738	7920	1	T	C	C	60	60	IL10	C	4	4
PLXNA2	5362	broad.mit.edu	37	1	208270171	208270171	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:208270171C>A	uc001hgz.2	-	7	2547	c.1789G>T	c.(1789-1791)GGG>TGG	p.G597W		NM_025179	NP_079455	O75051	PLXA2_HUMAN	plexin A2 precursor	597	Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane				ovary(2)|central_nervous_system(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.199)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	208270171	208270171	12546	1	C	A	A	21	21	PLXNA2	A	2	2
DUSP10	11221	broad.mit.edu	37	1	221879746	221879746	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:221879746C>G	uc001hmy.1	-	3	1056	c.874G>C	c.(874-876)GAG>CAG	p.E292Q	DUSP10_uc001hmx.1_5'UTR|DUSP10_uc001hmz.1_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10 isoform a	292					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0103)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	221879746	221879746	4995	1	C	G	G	32	32	DUSP10	G	3	3
C1orf65	164127	broad.mit.edu	37	1	223568431	223568431	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223568431G>A	uc001hoa.2	+	1	1717	c.1614G>A	c.(1612-1614)CTG>CTA	p.L538L		NM_152610	NP_689823	Q8N715	CA065_HUMAN	hypothetical protein LOC164127	538	Potential.									central_nervous_system(1)|skin(1)	2				GBM - Glioblastoma multiforme(131;0.0704)														---	---	---	---	capture+wgs		Silent	SNP	223568431	223568431	2129	1	G	A	A	45	45	C1orf65	A	2	2
CAPN2	824	broad.mit.edu	37	1	223949944	223949944	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:223949944G>C	uc001hob.3	+	14	1847	c.1623G>C	c.(1621-1623)TTG>TTC	p.L541F	CAPN2_uc010puy.1_Missense_Mutation_p.L463F|CAPN2_uc001hoc.2_Missense_Mutation_p.L122F	NM_001748	NP_001739	P17655	CAN2_HUMAN	calpain 2 isoform 1	541	Domain IV.				proteolysis	cytoplasm|plasma membrane				lung(3)|breast(1)|skin(1)	5				GBM - Glioblastoma multiforme(131;0.109)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	223949944	223949944	2745	1	G	C	C	47	47	CAPN2	C	3	3
GNG4	2786	broad.mit.edu	37	1	235747056	235747056	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:235747056C>A	uc001hxe.3	-	3	537	c.83G>T	c.(82-84)TGT>TTT	p.C28F	GNG4_uc009xfz.2_Missense_Mutation_p.C28F|GNG4_uc001hxh.3_Missense_Mutation_p.C28F	NM_001098722	NP_001092192	P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein),	28					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity				0	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	235747056	235747056	6798	1	C	A	A	17	17	GNG4	A	2	2
RYR2	6262	broad.mit.edu	37	1	237732496	237732496	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:237732496G>T	uc001hyl.1	+	29	3595	c.3475G>T	c.(3475-3477)GGC>TGC	p.G1159C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	cardiac muscle ryanodine receptor	1159	Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	237732496	237732496	14249	1	G	T	T	35	35	RYR2	T	2	2
EXO1	9156	broad.mit.edu	37	1	242035469	242035469	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242035469C>A	uc001hzh.2	+	12	1943	c.1403C>A	c.(1402-1404)ACT>AAT	p.T468N	EXO1_uc001hzi.2_Missense_Mutation_p.T468N|EXO1_uc001hzj.2_Missense_Mutation_p.T468N|EXO1_uc009xgq.2_Missense_Mutation_p.T467N	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	468	Interaction with MLH1.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)										Direct_reversal_of_damage|Editing_and_processing_nucleases					---	---	---	---	capture		Missense_Mutation	SNP	242035469	242035469	5493	1	C	A	A	20	20	EXO1	A	2	2
EXO1	9156	broad.mit.edu	37	1	242035547	242035547	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:242035547G>C	uc001hzh.2	+	12	2021	c.1481G>C	c.(1480-1482)AGT>ACT	p.S494T	EXO1_uc001hzi.2_Missense_Mutation_p.S494T|EXO1_uc001hzj.2_Missense_Mutation_p.S494T|EXO1_uc009xgq.2_Missense_Mutation_p.S493T	NM_130398	NP_569082	Q9UQ84	EXO1_HUMAN	exonuclease 1 isoform b	494					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			ovary(2)|lung(2)|skin(1)	5	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)										Direct_reversal_of_damage|Editing_and_processing_nucleases					---	---	---	---	capture+wgs		Missense_Mutation	SNP	242035547	242035547	5493	1	G	C	C	36	36	EXO1	C	3	3
TFB2M	64216	broad.mit.edu	37	1	246704449	246704449	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:246704449C>T	uc001ibn.2	-	8	1200	c.1075G>A	c.(1075-1077)GAT>AAT	p.D359N		NM_022366	NP_071761	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	359					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			ovary(1)	1	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	246704449	246704449	16322	1	C	T	T	30	30	TFB2M	T	2	2
OR11L1	391189	broad.mit.edu	37	1	248004383	248004383	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248004383C>G	uc001idn.1	-	1	816	c.816G>C	c.(814-816)AAG>AAC	p.K272N		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L,	272	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|pancreas(1)|skin(1)	3	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	248004383	248004383	11336	1	C	G	G	32	32	OR11L1	G	3	3
OR2T4	127074	broad.mit.edu	37	1	248525278	248525278	+	Missense_Mutation	SNP	G	T	T	rs143377817		TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248525278G>T	uc001ieh.1	+	1	396	c.396G>T	c.(394-396)CAG>CAT	p.Q132H		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T,	132	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	248525278	248525278	11433	1	G	T	T	33	33	OR2T4	T	2	2
OR2T3	343173	broad.mit.edu	37	1	248637397	248637397	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248637397A>T	uc001iel.1	+	1	746	c.746A>T	c.(745-747)CAC>CTC	p.H249L		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T,	249	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	248637397	248637397	11429	1	A	T	T	6	6	OR2T3	T	4	4
OR2G6	391211	broad.mit.edu	37	1	248685501	248685501	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248685501T>A	uc001ien.1	+	1	554	c.554T>A	c.(553-555)ATC>AAC	p.I185N		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G,	185	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	248685501	248685501	11406	1	T	A	A	50	50	OR2G6	A	4	4
PTCHD3	374308	broad.mit.edu	37	10	27688069	27688069	+	Silent	SNP	C	T	T	rs140478412		TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:27688069C>T	uc001itu.2	-	4	1576	c.1458G>A	c.(1456-1458)GCG>GCA	p.A486A		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	486	SSD.|Helical; (Potential).				spermatid development	integral to membrane	hedgehog receptor activity			ovary(2)|pancreas(1)|skin(1)	4																		---	---	---	---	capture+wgs		Silent	SNP	27688069	27688069	13188	10	C	T	T	23	23	PTCHD3	T	1	1
PTEN	5728	broad.mit.edu	37	10	89717708	89717708	+	Nonsense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:89717708C>T	uc001kfb.2	+	8	1764	c.733C>T	c.(733-735)CAG>TAG	p.Q245*		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	245	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Q245*(6)|p.R55fs*1(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243fs*9(1)|p.Q245fs*20(1)|p.G165_K342del(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)			31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	89717708	89717708	13192	10	C	T	T	29	29	PTEN	T	5	2
ITPRIP	85450	broad.mit.edu	37	10	106075422	106075422	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:106075422G>T	uc001kye.2	-	2	461	c.388C>A	c.(388-390)CCC>ACC	p.P130T	ITPRIP_uc001kyf.2_Missense_Mutation_p.P130T|ITPRIP_uc001kyg.2_Missense_Mutation_p.P130T	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-triphosphate receptor interacting	130						plasma membrane					0																		---	---	---	---	capture		Missense_Mutation	SNP	106075422	106075422	8227	10	G	T	T	43	43	ITPRIP	T	2	2
DUSP5	1847	broad.mit.edu	37	10	112262559	112262559	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:112262559G>A	uc001kzd.2	+	2	715	c.460G>A	c.(460-462)GAG>AAG	p.E154K		NM_004419	NP_004410	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	154					endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			upper_aerodigestive_tract(1)	1		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	112262559	112262559	5013	10	G	A	A	45	45	DUSP5	A	2	2
C10orf118	55088	broad.mit.edu	37	10	115891764	115891764	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115891764T>C	uc001lbb.1	-	11	2487	c.1835A>G	c.(1834-1836)CAA>CGA	p.Q612R	C10orf118_uc009xyd.1_Missense_Mutation_p.Q210R|C10orf118_uc001lbc.1_Missense_Mutation_p.Q612R|C10orf118_uc009xye.1_RNA	NM_018017	NP_060487	Q7Z3E2	CJ118_HUMAN	CTCL tumor antigen L14-2	612	Potential.									ovary(2)	2		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	115891764	115891764	1622	10	T	C	C	63	63	C10orf118	C	4	4
TDRD1	56165	broad.mit.edu	37	10	115963163	115963163	+	Missense_Mutation	SNP	T	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:115963163T>G	uc001lbg.1	+	8	971	c.818T>G	c.(817-819)TTC>TGC	p.F273C	TDRD1_uc001lbf.2_Missense_Mutation_p.F264C|TDRD1_uc001lbh.1_Missense_Mutation_p.F264C|TDRD1_uc001lbi.1_Missense_Mutation_p.F264C|TDRD1_uc010qsc.1_Translation_Start_Site|TDRD1_uc001lbj.2_Translation_Start_Site	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	273					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+wgs		Missense_Mutation	SNP	115963163	115963163	16256	10	T	G	G	62	62	TDRD1	G	4	4
WDR11	55717	broad.mit.edu	37	10	122666322	122666322	+	Missense_Mutation	SNP	G	A	A	rs141544883		TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:122666322G>A	uc010qtf.1	+	28	3710	c.3472G>A	c.(3472-3474)GAA>AAA	p.E1158K	WDR11_uc010qte.1_Missense_Mutation_p.E760K|WDR11_uc001lfd.1_3'UTR|WDR11_uc009xzn.2_Intron|uc001lfe.1_5'Flank	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	1158						integral to membrane					0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	122666322	122666322	17846	10	G	A	A	41	41	WDR11	A	2	2
WDR11	55717	broad.mit.edu	37	10	122666349	122666349	+	Nonsense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:122666349G>T	uc010qtf.1	+	28	3737	c.3499G>T	c.(3499-3501)GAA>TAA	p.E1167*	WDR11_uc010qte.1_Nonsense_Mutation_p.E769*|WDR11_uc001lfd.1_3'UTR|WDR11_uc009xzn.2_Intron|uc001lfe.1_5'Flank	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	bromodomain and WD repeat domain containing 2	1167						integral to membrane					0																		---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	122666349	122666349	17846	10	G	T	T	45	45	WDR11	T	5	2
MUC6	4588	broad.mit.edu	37	11	1018514	1018514	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1018514G>T	uc001lsw.2	-	31	4338	c.4287C>A	c.(4285-4287)GCC>GCA	p.A1429A		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	mucin 6, gastric	1429	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			ovary(1)	1		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---	capture		Silent	SNP	1018514	1018514	10374	11	G	T	T	47	47	MUC6	T	2	2
BRSK2	9024	broad.mit.edu	37	11	1467072	1467072	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1467072C>A	uc001lti.2	+	12	1547	c.1161C>A	c.(1159-1161)AGC>AGA	p.S387R	BRSK2_uc009ycv.1_Missense_Mutation_p.S387R|BRSK2_uc001lth.1_Missense_Mutation_p.S387R|BRSK2_uc001ltj.2_Missense_Mutation_p.S387R|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.S387R|BRSK2_uc001ltm.2_Missense_Mutation_p.S433R|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	387					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity				0		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	1467072	1467072	1555	11	C	A	A	27	27	BRSK2	A	1	1
OR52E2	119678	broad.mit.edu	37	11	5080752	5080752	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5080752C>G	uc010qyw.1	-	1	106	c.106G>C	c.(106-108)GTG>CTG	p.V36L		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E,	36	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|skin(1)	3		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	5080752	5080752	11525	11	C	G	G	17	17	OR52E2	G	3	3
OR56A3	390083	broad.mit.edu	37	11	5969164	5969164	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:5969164C>T	uc010qzt.1	+	1	588	c.588C>T	c.(586-588)GTC>GTT	p.V196V		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A,	196	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)														---	---	---	---	capture+wgs		Silent	SNP	5969164	5969164	11544	11	C	T	T	29	29	OR56A3	T	2	2
DENND5A	23258	broad.mit.edu	37	11	9167295	9167295	+	Silent	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:9167295T>C	uc001mhl.2	-	17	3180	c.2925A>G	c.(2923-2925)CCA>CCG	p.P975P	DENND5A_uc001mhk.2_Silent_p.P318P|DENND5A_uc010rbw.1_Silent_p.P975P|DENND5A_uc010rbx.1_RNA	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	RAB6 interacting protein 1	975	PLAT.									liver(1)	1																		---	---	---	---	capture+wgs		Silent	SNP	9167295	9167295	4615	11	T	C	C	51	51	DENND5A	C	4	4
EIF4G2	1982	broad.mit.edu	37	11	10821639	10821639	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10821639G>T	uc001mjc.2	-	18	2534	c.2117C>A	c.(2116-2118)CCA>CAA	p.P706Q	EIF4G2_uc001mjb.2_Missense_Mutation_p.P500Q|EIF4G2_uc009ygf.2_Missense_Mutation_p.P500Q|EIF4G2_uc001mjd.2_Missense_Mutation_p.P668Q	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	706					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)														---	---	---	---	capture		Missense_Mutation	SNP	10821639	10821639	5228	11	G	T	T	47	47	EIF4G2	T	2	2
EIF4G2	1982	broad.mit.edu	37	11	10827575	10827575	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:10827575G>T	uc001mjc.2	-	4	544	c.127C>A	c.(127-129)CCA>ACA	p.P43T	EIF4G2_uc001mjb.2_5'UTR|EIF4G2_uc009ygf.2_5'UTR|EIF4G2_uc001mjd.2_Missense_Mutation_p.P43T|EIF4G2_uc001mjf.1_5'UTR	NM_001418	NP_001409	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4	43					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.P43S(1)		ovary(1)|central_nervous_system(1)	2				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)														---	---	---	---	capture		Missense_Mutation	SNP	10827575	10827575	5228	11	G	T	T	43	43	EIF4G2	T	2	2
MUC15	143662	broad.mit.edu	37	11	26584733	26584733	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:26584733G>A	uc001mqx.2	-	3	1040	c.774C>T	c.(772-774)TAC>TAT	p.Y258Y	ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Silent_p.Y285Y|MUC15_uc001mqy.2_Intron	NM_145650	NP_663625	Q8N387	MUC15_HUMAN	mucin 15 isoform b	258	Cytoplasmic (Potential).					extracellular region|integral to membrane|plasma membrane				ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---	capture+wgs		Silent	SNP	26584733	26584733	10366	11	G	A	A	36	36	MUC15	A	2	2
C11orf41	25758	broad.mit.edu	37	11	33564652	33564652	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:33564652G>T	uc001mup.3	+	1	776	c.652G>T	c.(652-654)GCC>TCC	p.A218S	C11orf41_uc001mun.1_Missense_Mutation_p.A218S	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	hypothetical protein LOC25758	218						integral to membrane				ovary(2)	2																OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture+wgs		Missense_Mutation	SNP	33564652	33564652	1679	11	G	T	T	46	46	C11orf41	T	2	2
HSD17B12	51144	broad.mit.edu	37	11	43775641	43775641	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:43775641G>T	uc001mxq.3	+	3	488	c.253G>T	c.(253-255)GAT>TAT	p.D85Y	HSD17B12_uc001mxp.2_RNA	NM_016142	NP_057226	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	85					long-chain fatty-acyl-CoA biosynthetic process|steroid biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	estradiol 17-beta-dehydrogenase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	43775641	43775641	7676	11	G	T	T	41	41	HSD17B12	T	2	2
OR4C3	256144	broad.mit.edu	37	11	48346875	48346875	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:48346875G>C	uc010rhv.1	+	1	383	c.383G>C	c.(382-384)GGA>GCA	p.G128A		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C,	101	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	48346875	48346875	11456	11	G	C	C	41	41	OR4C3	C	3	3
FOLH1	2346	broad.mit.edu	37	11	49207291	49207291	+	Silent	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:49207291A>T	uc001ngy.2	-	6	1017	c.756T>A	c.(754-756)GGT>GGA	p.G252G	FOLH1_uc001ngz.2_Silent_p.G252G|FOLH1_uc009yly.2_Silent_p.G237G|FOLH1_uc009ylz.2_Silent_p.G237G|FOLH1_uc009yma.2_Intron	NM_004476	NP_004467	Q04609	FOLH1_HUMAN	folate hydrolase 1 isoform 1	252	Extracellular (Probable).				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			large_intestine(1)|ovary(1)|skin(1)	3					Capromab(DB00089)|L-Glutamic Acid(DB00142)													---	---	---	---	capture+wgs		Silent	SNP	49207291	49207291	6221	11	A	T	T	6	6	FOLH1	T	4	4
TRIM48	79097	broad.mit.edu	37	11	55032605	55032605	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55032605C>G	uc010rid.1	+	2	360	c.274C>G	c.(274-276)CTT>GTT	p.L92V		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	tripartite motif-containing 48	76						intracellular	zinc ion binding				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	55032605	55032605	17068	11	C	G	G	24	24	TRIM48	G	3	3
OR5L1	219437	broad.mit.edu	37	11	55579833	55579833	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55579833G>T	uc001nhw.1	+	1	891	c.891G>T	c.(889-891)GTG>GTT	p.V297V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L,	297	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(3)|ovary(2)	5		all_epithelial(135;0.208)																---	---	---	---	capture+wgs		Silent	SNP	55579833	55579833	11580	11	G	T	T	45	45	OR5L1	T	2	2
OR5I1	10798	broad.mit.edu	37	11	55703750	55703750	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55703750C>A	uc010ris.1	-	1	127	c.127G>T	c.(127-129)GGG>TGG	p.G43W		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I,	43	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	55703750	55703750	11574	11	C	A	A	24	24	OR5I1	A	2	2
OR5AS1	219447	broad.mit.edu	37	11	55798323	55798323	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55798323C>A	uc010riw.1	+	1	429	c.429C>A	c.(427-429)TGC>TGA	p.C143*		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS,	143	Helical; Name=4; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)|liver(1)|skin(1)	5	Esophageal squamous(21;0.00693)																	---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	55798323	55798323	11556	11	C	A	A	28	28	OR5AS1	A	5	2
OR8H2	390151	broad.mit.edu	37	11	55873110	55873110	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55873110C>T	uc010riy.1	+	1	592	c.592C>T	c.(592-594)CTG>TTG	p.L198L		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H,	198	Helical; Name=5; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2	Esophageal squamous(21;0.00693)														HNSCC(53;0.14)			---	---	---	---	capture+wgs		Silent	SNP	55873110	55873110	11649	11	C	T	T	24	24	OR8H2	T	2	2
OR5J2	282775	broad.mit.edu	37	11	55944669	55944669	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:55944669C>T	uc010rjb.1	+	1	576	c.576C>T	c.(574-576)ACC>ACT	p.T192T		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J,	192	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|large_intestine(1)|breast(1)|pancreas(1)	4	Esophageal squamous(21;0.00693)																	---	---	---	---	capture+wgs		Silent	SNP	55944669	55944669	11575	11	C	T	T	24	24	OR5J2	T	2	2
MS4A7	58475	broad.mit.edu	37	11	60156870	60156870	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60156870G>A	uc001npe.2	+	5	492	c.347G>A	c.(346-348)AGC>AAC	p.S116N	MS4A7_uc001npf.2_Missense_Mutation_p.S116N|MS4A7_uc001npg.2_Missense_Mutation_p.S71N|MS4A7_uc001nph.2_Missense_Mutation_p.S71N|MS4A14_uc001npi.2_Intron|MS4A7_uc009ymx.1_Missense_Mutation_p.S71N	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member	116	Cytoplasmic (Potential).					integral to membrane	receptor activity			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	60156870	60156870	10259	11	G	A	A	34	34	MS4A7	A	2	2
MS4A14	84689	broad.mit.edu	37	11	60183336	60183336	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:60183336G>T	uc001npj.2	+	5	1460	c.895G>T	c.(895-897)GCG>TCG	p.A299S	MS4A14_uc001npi.2_Missense_Mutation_p.A187S|MS4A14_uc001npn.2_Missense_Mutation_p.A37S|MS4A14_uc001npk.2_Missense_Mutation_p.A282S|MS4A14_uc001npl.2_Missense_Mutation_p.A37S|MS4A14_uc001npm.2_Missense_Mutation_p.A37S	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member	299						integral to membrane	receptor activity			breast(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	60183336	60183336	10251	11	G	T	T	46	46	MS4A14	T	2	2
RAD9A	5883	broad.mit.edu	37	11	67164770	67164770	+	Silent	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:67164770C>A	uc001okr.2	+	10	1086	c.993C>A	c.(991-993)CCC>CCA	p.P331P	RAD9A_uc001oks.2_Silent_p.P188P	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	RAD9 homolog	331	Sufficient for interaction with ABL1.				DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding				0			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)										Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes					---	---	---	---	capture		Silent	SNP	67164770	67164770	13455	11	C	A	A	22	22	RAD9A	A	2	2
XRRA1	143570	broad.mit.edu	37	11	74559320	74559320	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:74559320G>T	uc009yub.2	-	15	1876	c.1544C>A	c.(1543-1545)CCG>CAG	p.P515Q	XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.P138Q|XRRA1_uc001ovo.2_Missense_Mutation_p.P123Q|XRRA1_uc001ovq.3_Missense_Mutation_p.P428Q|XRRA1_uc001ovp.3_Missense_Mutation_p.P240Q|XRRA1_uc001ovr.2_Missense_Mutation_p.P138Q|XRRA1_uc001ovs.1_Missense_Mutation_p.P117Q	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	515					response to X-ray	cytoplasm|nucleus				central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	74559320	74559320	18044	11	G	T	T	39	39	XRRA1	T	1	1
CAPN5	726	broad.mit.edu	37	11	76831861	76831861	+	Nonsense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:76831861G>T	uc001oxx.2	+	10	1578	c.1393G>T	c.(1393-1395)GAG>TAG	p.E465*	CAPN5_uc009yup.2_Nonsense_Mutation_p.E505*|CAPN5_uc009yuq.2_Nonsense_Mutation_p.E501*|CAPN5_uc001oxy.2_Nonsense_Mutation_p.E505*|CAPN5_uc001oya.2_Nonsense_Mutation_p.E27*	NM_004055	NP_004046	O15484	CAN5_HUMAN	calpain 5	465	Domain III.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity				0																		---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	76831861	76831861	2747	11	G	T	T	37	37	CAPN5	T	5	1
NOX4	50507	broad.mit.edu	37	11	89069063	89069063	+	Silent	SNP	T	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89069063T>A	uc001pct.2	-	17	1805	c.1566A>T	c.(1564-1566)GGA>GGT	p.G522G	NOX4_uc009yvr.2_Silent_p.G497G|NOX4_uc001pcu.2_Silent_p.G448G|NOX4_uc001pcw.2_Silent_p.G215G|NOX4_uc001pcx.2_Silent_p.G175G|NOX4_uc001pcv.2_Silent_p.G482G|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Silent_p.G335G|NOX4_uc009yvp.2_Silent_p.G286G|NOX4_uc010rtv.1_Silent_p.G458G|NOX4_uc009yvq.2_Silent_p.G498G	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a	522	Cytoplasmic (Potential).|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)																---	---	---	---	capture+wgs		Silent	SNP	89069063	89069063	10962	11	T	A	A	58	58	NOX4	A	4	4
MAML2	84441	broad.mit.edu	37	11	95713100	95713100	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:95713100G>A	uc001pfw.1	-	5	3768	c.2483C>T	c.(2482-2484)TCT>TTT	p.S828F		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	mastermind-like 2	828					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC1/MAML2(516)|CRTC3/MAML2(26)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)						T	MECT1|CRTC3	salivary gland mucoepidermoid								---	---	---	---	capture+wgs		Missense_Mutation	SNP	95713100	95713100	9589	11	G	A	A	33	33	MAML2	A	2	2
MMP8	4317	broad.mit.edu	37	11	102584549	102584549	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102584549G>T	uc001phe.2	-	9	1329	c.1230C>A	c.(1228-1230)CCC>CCA	p.P410P	MMP8_uc010rut.1_Missense_Mutation_p.P294Q|MMP8_uc010ruu.1_Silent_p.P387P	NM_002424	NP_002415	P22894	MMP8_HUMAN	matrix metalloproteinase 8 preproprotein	410	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			ovary(3)|breast(1)	4	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)														---	---	---	---	capture		Silent	SNP	102584549	102584549	10059	11	G	T	T	47	47	MMP8	T	2	2
DYNC2H1	79659	broad.mit.edu	37	11	102988531	102988531	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:102988531C>G	uc001pho.2	+	6	1082	c.938C>G	c.(937-939)CCA>CGA	p.P313R	DYNC2H1_uc001phn.1_Missense_Mutation_p.P313R|DYNC2H1_uc009yxe.1_Missense_Mutation_p.P313R	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	313	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity				0		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)														---	---	---	---	capture		Missense_Mutation	SNP	102988531	102988531	5032	11	C	G	G	21	21	DYNC2H1	G	3	3
CWF19L2	143884	broad.mit.edu	37	11	107299812	107299812	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:107299812C>A	uc010rvp.1	-	8	1176	c.1146G>T	c.(1144-1146)AAG>AAT	p.K382N	CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control	382							catalytic activity				0		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	107299812	107299812	4232	11	C	A	A	24	24	CWF19L2	A	2	2
DDX10	1662	broad.mit.edu	37	11	108547817	108547817	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:108547817G>T	uc001pkm.2	+	4	449	c.384G>T	c.(382-384)CTG>CTT	p.L128L	DDX10_uc001pkl.1_Silent_p.L128L	NM_004398	NP_004389	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	128	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|lung(1)|prostate(1)	4		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)				T	NUP98	AML*								---	---	---	---	capture		Silent	SNP	108547817	108547817	4513	11	G	T	T	47	47	DDX10	T	2	2
TMEM225	338661	broad.mit.edu	37	11	123755245	123755245	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123755245G>C	uc001pzi.2	-	2	488	c.280C>G	c.(280-282)CAA>GAA	p.Q94E		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	transmembrane protein 225	94						integral to membrane				upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	3																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	123755245	123755245	16683	11	G	C	C	45	45	TMEM225	C	3	3
OR10G8	219869	broad.mit.edu	37	11	123901086	123901086	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123901086C>A	uc001pzp.1	+	1	757	c.757C>A	c.(757-759)CCT>ACT	p.P253T		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G,	253	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)|skin(1)	2		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	123901086	123901086	11309	11	C	A	A	22	22	OR10G8	A	2	2
OR8B4	283162	broad.mit.edu	37	11	124294600	124294600	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124294600G>T	uc010sak.1	-	1	168	c.168C>A	c.(166-168)CAC>CAA	p.H56Q		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B,	56	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			skin(1)	1		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	124294600	124294600	11640	11	G	T	T	48	48	OR8B4	T	2	2
ROBO4	54538	broad.mit.edu	37	11	124763909	124763909	+	Missense_Mutation	SNP	T	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:124763909T>G	uc001qbg.2	-	9	1491	c.1351A>C	c.(1351-1353)AGT>CGT	p.S451R	ROBO4_uc010sas.1_Missense_Mutation_p.S306R|ROBO4_uc001qbh.2_Missense_Mutation_p.S341R|ROBO4_uc001qbi.2_Missense_Mutation_p.S9R|ROBO4_uc010sat.1_Missense_Mutation_p.S9R	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	roundabout homolog 4, magic roundabout	451					angiogenesis|cell differentiation	integral to membrane	receptor activity			ovary(1)|skin(1)	2	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	124763909	124763909	13995	11	T	G	G	55	55	ROBO4	G	4	4
STT3A	3703	broad.mit.edu	37	11	125472288	125472288	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:125472288G>A	uc001qcd.2	+	4	350	c.240G>A	c.(238-240)TTG>TTA	p.L80L	STT3A_uc009zbm.2_Silent_p.L80L|STT3A_uc001qce.2_Silent_p.L80L|STT3A_uc010sbg.1_5'UTR	NM_152713	NP_689926	P46977	STT3A_HUMAN	integral membrane protein 1	80	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity				0	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)														---	---	---	---	capture+wgs		Silent	SNP	125472288	125472288	15853	11	G	A	A	47	47	STT3A	A	2	2
NCAPD3	23310	broad.mit.edu	37	11	134038450	134038450	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:134038450C>A	uc001qhd.1	-	26	3893	c.3287G>T	c.(3286-3288)CGA>CTA	p.R1096L	NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_Intron|NCAPD3_uc001qhc.1_Missense_Mutation_p.R46L	NM_015261	NP_056076	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1096					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	5	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	134038450	134038450	10605	11	C	A	A	31	31	NCAPD3	A	1	1
SLC6A12	6539	broad.mit.edu	37	12	319118	319118	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:319118G>T	uc001qhz.2	-	4	578	c.35C>A	c.(34-36)CCT>CAT	p.P12H	SLC6A12_uc001qia.2_Missense_Mutation_p.P12H|SLC6A12_uc001qib.2_Missense_Mutation_p.P12H|SLC6A12_uc009zdh.1_Missense_Mutation_p.P12H|SLC6A12_uc009zdi.1_RNA	NM_003044	NP_003035	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter	12	Cytoplasmic (Potential).				cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			ovary(1)	1	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	319118	319118	15172	12	G	T	T	35	35	SLC6A12	T	2	2
NRIP2	83714	broad.mit.edu	37	12	2943895	2943895	+	Silent	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:2943895G>C	uc001qlc.2	-	1	327	c.255C>G	c.(253-255)CTC>CTG	p.L85L	NRIP2_uc010sed.1_Silent_p.L85L|uc009zdz.1_5'Flank	NM_031474	NP_113662	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	85					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			ovary(1)	1			OV - Ovarian serous cystadenocarcinoma(31;0.000818)															---	---	---	---	capture+wgs		Silent	SNP	2943895	2943895	11058	12	G	C	C	45	45	NRIP2	C	3	3
KIAA1467	57613	broad.mit.edu	37	12	13220127	13220127	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:13220127C>G	uc001rbi.2	+	7	1062	c.1039C>G	c.(1039-1041)CAG>GAG	p.Q347E	KIAA1467_uc009zhx.1_RNA	NM_020853	NP_065904	A2RU67	K1467_HUMAN	hypothetical protein LOC57613	347						integral to membrane				central_nervous_system(2)|skin(1)	3		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	13220127	13220127	8544	12	C	G	G	29	29	KIAA1467	G	3	3
PLEKHA5	54477	broad.mit.edu	37	12	19440426	19440426	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:19440426G>A	uc001reb.2	+	12	1867	c.1781G>A	c.(1780-1782)AGA>AAA	p.R594K	PLEKHA5_uc010sie.1_Missense_Mutation_p.R600K|PLEKHA5_uc001rea.2_Missense_Mutation_p.R594K|PLEKHA5_uc009zin.2_Missense_Mutation_p.R352K|PLEKHA5_uc010sif.1_Missense_Mutation_p.R486K|PLEKHA5_uc010sig.1_Missense_Mutation_p.R486K|PLEKHA5_uc010sih.1_Missense_Mutation_p.R486K|PLEKHA5_uc001rec.1_Missense_Mutation_p.R282K	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A	594							1-phosphatidylinositol binding|protein binding			ovary(1)|kidney(1)|skin(1)	3	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	19440426	19440426	12485	12	G	A	A	33	33	PLEKHA5	A	2	2
KIAA0528	9847	broad.mit.edu	37	12	22635541	22635541	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:22635541C>A	uc001rfq.2	-	14	1915	c.1687G>T	c.(1687-1689)GGA>TGA	p.G563*	KIAA0528_uc010sir.1_Nonsense_Mutation_p.G378*|KIAA0528_uc010sis.1_Nonsense_Mutation_p.G563*|KIAA0528_uc010sit.1_Nonsense_Mutation_p.G565*|KIAA0528_uc010siu.1_Nonsense_Mutation_p.G563*|KIAA0528_uc001rfr.2_Nonsense_Mutation_p.G554*|KIAA0528_uc009ziy.1_Nonsense_Mutation_p.G565*	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	hypothetical protein LOC9847	563							protein binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4																		---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	22635541	22635541	8489	12	C	A	A	21	21	KIAA0528	A	5	2
TMEM117	84216	broad.mit.edu	37	12	44782229	44782229	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:44782229C>A	uc001rod.2	+	8	1385	c.1319C>A	c.(1318-1320)TCA>TAA	p.S440*	TMEM117_uc001roe.2_Nonsense_Mutation_p.S336*|TMEM117_uc009zkc.2_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	transmembrane protein 117	440						endoplasmic reticulum|integral to membrane					0	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)														---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	44782229	44782229	16562	12	C	A	A	29	29	TMEM117	A	5	2
RPAP3	79657	broad.mit.edu	37	12	48090172	48090172	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:48090172G>A	uc001rpr.2	-	5	548	c.432C>T	c.(430-432)TTC>TTT	p.F144F	RPAP3_uc010slk.1_5'UTR|RPAP3_uc001rps.2_Silent_p.F144F	NM_024604	NP_078880	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3 isoform	144	TPR 2.						binding			ovary(1)	1	Lung SC(27;0.192)																	---	---	---	---	capture+wgs		Silent	SNP	48090172	48090172	14022	12	G	A	A	45	45	RPAP3	A	2	2
CALCOCO1	57658	broad.mit.edu	37	12	54109789	54109789	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54109789C>G	uc001sef.2	-	9	1192	c.1048G>C	c.(1048-1050)GAG>CAG	p.E350Q	CALCOCO1_uc001see.2_5'Flank|CALCOCO1_uc010som.1_Missense_Mutation_p.E265Q|CALCOCO1_uc010son.1_Missense_Mutation_p.E227Q|CALCOCO1_uc001seh.2_Missense_Mutation_p.E350Q|CALCOCO1_uc009znd.2_Missense_Mutation_p.E350Q|CALCOCO1_uc001seg.2_Missense_Mutation_p.E175Q|CALCOCO1_uc010soo.1_Missense_Mutation_p.E343Q	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	coiled-coil transcriptional coactivator isoform	350					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			ovary(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	54109789	54109789	2693	12	C	G	G	30	30	CALCOCO1	G	3	3
NFE2	4778	broad.mit.edu	37	12	54686346	54686346	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54686346G>T	uc009znk.2	-	2	1444	c.934C>A	c.(934-936)CGC>AGC	p.R312S	NFE2_uc001sfq.2_Missense_Mutation_p.R312S|NFE2_uc001sfr.3_Missense_Mutation_p.R312S|NFE2_uc009znl.2_Missense_Mutation_p.R312S	NM_006163	NP_006154	Q16621	NFE2_HUMAN	nuclear factor, erythroid derived 2 isoform 1	312	Leucine-zipper.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	54686346	54686346	10766	12	G	T	T	39	39	NFE2	T	1	1
LRP1	4035	broad.mit.edu	37	12	57605310	57605310	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57605310G>T	uc001snd.2	+	85	13598	c.13132G>T	c.(13132-13134)GTC>TTC	p.V4378F		NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	4378	Extracellular (Potential).|EGF-like 22.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	57605310	57605310	9324	12	G	T	T	40	40	LRP1	T	1	1
R3HDM2	22864	broad.mit.edu	37	12	57662127	57662127	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:57662127C>T	uc009zpm.1	-	16	1982	c.1947G>A	c.(1945-1947)GTG>GTA	p.V649V	R3HDM2_uc010srn.1_RNA|R3HDM2_uc001snu.2_Silent_p.V344V|R3HDM2_uc001snr.2_Silent_p.V376V|R3HDM2_uc001sns.2_Silent_p.V649V|R3HDM2_uc001snt.2_Silent_p.V663V|R3HDM2_uc009zpn.1_Intron	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	649	Gln-rich.					nucleus	nucleic acid binding			ovary(2)	2																		---	---	---	---	capture+wgs		Silent	SNP	57662127	57662127	13347	12	C	T	T	17	17	R3HDM2	T	2	2
PTPRB	5787	broad.mit.edu	37	12	70918334	70918334	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:70918334A>T	uc001swb.3	-	31	5918	c.5888T>A	c.(5887-5889)GTC>GAC	p.V1963D	uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.V1873D|PTPRB_uc010stp.1_Missense_Mutation_p.V1873D|PTPRB_uc001swc.3_Missense_Mutation_p.V2181D|PTPRB_uc001swa.3_Missense_Mutation_p.V2093D	NM_002837	NP_002828	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1963	Cytoplasmic (Potential).|Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			lung(2)|skin(1)	3	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	70918334	70918334	13253	12	A	T	T	10	10	PTPRB	T	4	4
ZDHHC17	23390	broad.mit.edu	37	12	77208951	77208951	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:77208951G>C	uc001syk.1	+	6	732	c.569G>C	c.(568-570)GGA>GCA	p.G190A	ZDHHC17_uc001syi.1_RNA|ZDHHC17_uc001syj.2_RNA	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN	huntingtin interacting protein 14	190	ANK 4.|Cytoplasmic (Potential).				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	77208951	77208951	18195	12	G	C	C	41	41	ZDHHC17	C	3	3
LRRIQ1	84125	broad.mit.edu	37	12	85441059	85441059	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:85441059G>T	uc001tac.2	+	6	600	c.489G>T	c.(487-489)GTG>GTT	p.V163V	LRRIQ1_uc001tab.1_Silent_p.V163V|LRRIQ1_uc001taa.1_Silent_p.V163V|LRRIQ1_uc001tad.2_Silent_p.V71V	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	163	Glu-rich.									ovary(4)|central_nervous_system(1)|skin(1)	6				GBM - Glioblastoma multiforme(134;0.212)														---	---	---	---	capture		Silent	SNP	85441059	85441059	9405	12	G	T	T	47	47	LRRIQ1	T	2	2
C12orf50	160419	broad.mit.edu	37	12	88420267	88420267	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:88420267C>G	uc001tam.1	-	3	299	c.131G>C	c.(130-132)AGC>ACC	p.S44T	C12orf50_uc001tan.2_Missense_Mutation_p.S98T	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	hypothetical protein LOC160419	44										skin(2)|ovary(1)	3																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	88420267	88420267	1739	12	C	G	G	28	28	C12orf50	G	3	3
VEZT	55591	broad.mit.edu	37	12	95611630	95611630	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:95611630A>G	uc001tdz.2	+	1	109	c.4A>G	c.(4-6)ACA>GCA	p.T2A	FGD6_uc001tdp.3_5'Flank|FGD6_uc009zsx.2_5'Flank|VEZT_uc009zsy.1_5'UTR|VEZT_uc001tdr.2_5'UTR|VEZT_uc001tds.2_5'UTR|VEZT_uc001tdt.2_5'UTR|VEZT_uc009zsz.1_Missense_Mutation_p.T2A|VEZT_uc001tdv.2_5'UTR|VEZT_uc001tdw.1_5'Flank	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane	2						acrosomal vesicle|adherens junction|integral to membrane|nucleus				ovary(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	95611630	95611630	17723	12	A	G	G	10	10	VEZT	G	4	4
ANO4	121601	broad.mit.edu	37	12	101368626	101368626	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:101368626A>T	uc010svm.1	+	7	1133	c.561A>T	c.(559-561)AGA>AGT	p.R187S	ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.R152S|ANO4_uc001thx.2_Missense_Mutation_p.R187S	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	anoctamin 4	187	Extracellular (Potential).					chloride channel complex	chloride channel activity			ovary(4)|skin(2)	6															HNSCC(74;0.22)			---	---	---	---	capture+wgs		Missense_Mutation	SNP	101368626	101368626	707	12	A	T	T	9	9	ANO4	T	4	4
STAB2	55576	broad.mit.edu	37	12	104030921	104030921	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:104030921G>C	uc001tjw.2	+	7	802	c.616G>C	c.(616-618)GAA>CAA	p.E206Q		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	206	Extracellular (Potential).|EGF-like 3.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	104030921	104030921	15756	12	G	C	C	33	33	STAB2	C	3	3
GIT2	9815	broad.mit.edu	37	12	110370897	110370897	+	Silent	SNP	G	T	T	rs149426484		TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:110370897G>T	uc001tps.2	-	20	2331	c.2166C>A	c.(2164-2166)CCC>CCA	p.P722P	TCHP_uc001tpo.1_Intron|GIT2_uc001tpr.2_3'UTR|GIT2_uc001tpq.2_Silent_p.P692P|GIT2_uc001tpv.2_Silent_p.P644P|GIT2_uc001tpu.2_Silent_p.P642P|GIT2_uc001tpt.2_Silent_p.P594P|GIT2_uc010sxu.1_Silent_p.P630P	NM_057169	NP_476510	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting	722					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	110370897	110370897	6665	12	G	T	T	39	39	GIT2	T	1	1
WSB2	55884	broad.mit.edu	37	12	118481125	118481125	+	Silent	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:118481125C>A	uc001twr.2	-	3	338	c.240G>T	c.(238-240)CGG>CGT	p.R80R	WSB2_uc010sza.1_5'UTR|WSB2_uc010szb.1_Intron|WSB2_uc009zws.1_Silent_p.R80R	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	WD SOCS-box protein 2	80					intracellular signal transduction					ovary(1)	1	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)																	---	---	---	---	capture		Silent	SNP	118481125	118481125	17979	12	C	A	A	22	22	WSB2	A	2	2
C13orf23	80209	broad.mit.edu	37	13	39587671	39587671	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:39587671A>T	uc001uwy.2	-	11	2591	c.1718T>A	c.(1717-1719)GTT>GAT	p.V573D	C13orf23_uc001uwz.2_Missense_Mutation_p.V551D	NM_025138	NP_079414	Q86XN7	CM023_HUMAN	hypothetical protein LOC80209 isoform 1	573	Ser-rich.									ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	39587671	39587671	1768	13	A	T	T	2	2	C13orf23	T	4	4
TSC22D1	8848	broad.mit.edu	37	13	45148757	45148757	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:45148757C>A	uc001uzn.3	-	1	1945	c.1454G>T	c.(1453-1455)GGA>GTA	p.G485V	TSC22D1_uc001uzo.1_Missense_Mutation_p.G485V	NM_183422	NP_904358	Q15714	T22D1_HUMAN	TSC22 domain family, member 1 isoform 1	485					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity				0		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	45148757	45148757	17158	13	C	A	A	30	30	TSC22D1	A	2	2
RCBTB2	1102	broad.mit.edu	37	13	49084848	49084848	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49084848C>A	uc001vch.2	-	10	1214	c.843G>T	c.(841-843)TGG>TGT	p.W281C	RCBTB2_uc010tgg.1_Missense_Mutation_p.W286C|RCBTB2_uc001vci.2_Missense_Mutation_p.W257C|RCBTB2_uc010tgh.1_Intron|RCBTB2_uc001vcj.2_Intron|RCBTB2_uc010acv.1_RNA|RCBTB2_uc010tgi.1_Intron	NM_001268	NP_001259	O95199	RCBT2_HUMAN	regulator of chromosome condensation and BTB	281	RCC1 5.						Ran guanyl-nucleotide exchange factor activity			ovary(2)|lung(2)|skin(1)	5		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)														---	---	---	---	capture		Missense_Mutation	SNP	49084848	49084848	13641	13	C	A	A	22	22	RCBTB2	A	2	2
CYSLTR2	57105	broad.mit.edu	37	13	49281313	49281313	+	Silent	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:49281313C>G	uc010acx.1	+	6	1043	c.360C>G	c.(358-360)GTC>GTG	p.V120V	CYSLTR2_uc010acy.1_Silent_p.V120V|CYSLTR2_uc010acz.1_Silent_p.V120V|CYSLTR2_uc010ada.1_Silent_p.V120V|CYSLTR2_uc010adb.1_Silent_p.V120V|CYSLTR2_uc010adc.1_Silent_p.V120V|CYSLTR2_uc010add.1_Silent_p.V120V|CYSLTR2_uc010acw.1_Silent_p.V120V|CYSLTR2_uc001vck.2_Silent_p.V120V	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	120	Extracellular (Potential).				immune response	integral to membrane|plasma membrane				lung(2)	2		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)													---	---	---	---	capture+wgs		Silent	SNP	49281313	49281313	4367	13	C	G	G	29	29	CYSLTR2	G	3	3
THSD1	55901	broad.mit.edu	37	13	52971859	52971859	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:52971859C>T	uc001vgo.2	-	3	1074	c.529G>A	c.(529-531)GAG>AAG	p.E177K	THSD1_uc001vgp.2_Missense_Mutation_p.E177K|THSD1_uc010tgz.1_Intron|THSD1_uc010aea.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	thrombospondin type I domain-containing 1	177	Extracellular (Potential).					extracellular region|integral to membrane|intracellular membrane-bounded organelle				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	52971859	52971859	16405	13	C	T	T	29	29	THSD1	T	2	2
MYCBP2	23077	broad.mit.edu	37	13	77672952	77672952	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:77672952C>T	uc001vkf.2	-	57	8314	c.8223G>A	c.(8221-8223)TTG>TTA	p.L2741L	MYCBP2_uc010aev.2_Silent_p.L2145L|MYCBP2_uc001vkg.1_Silent_p.L264L|MYCBP2_uc010aew.2_Silent_p.L127L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	MYC binding protein 2	2741	Ser-rich.				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+wgs		Silent	SNP	77672952	77672952	10413	13	C	T	T	29	29	MYCBP2	T	2	2
GPC5	2262	broad.mit.edu	37	13	92380910	92380910	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:92380910A>G	uc010tif.1	+	4	1511	c.1145A>G	c.(1144-1146)AAC>AGC	p.N382S		NM_004466	NP_004457	P78333	GPC5_HUMAN	glypican 5 precursor	382						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			ovary(2)|skin(2)|upper_aerodigestive_tract(1)	5	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)																---	---	---	---	capture+wgs		Missense_Mutation	SNP	92380910	92380910	6875	13	A	G	G	2	2	GPC5	G	4	4
COL4A1	1282	broad.mit.edu	37	13	110827678	110827678	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:110827678C>A	uc001vqw.3	-	37	3207	c.3085G>T	c.(3085-3087)GGC>TGC	p.G1029C	COL4A1_uc010agl.2_Intron	NM_001845	NP_001836	P02462	CO4A1_HUMAN	alpha 1 type IV collagen preproprotein	1029	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+wgs		Missense_Mutation	SNP	110827678	110827678	3827	13	C	A	A	21	21	COL4A1	A	2	2
F7	2155	broad.mit.edu	37	13	113768231	113768231	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:113768231C>T	uc001vsv.2	+	5	438	c.387C>T	c.(385-387)ATC>ATT	p.I129I	F7_uc010agp.1_Silent_p.I122I|F7_uc001vsw.2_Silent_p.I107I|F7_uc010tjt.1_Silent_p.I60I	NM_000131	NP_000122	P08709	FA7_HUMAN	coagulation factor VII isoform a precursor	129	EGF-like 1; calcium-binding (Potential).				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity				0	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)													---	---	---	---	capture+wgs		Silent	SNP	113768231	113768231	5543	13	C	T	T	32	32	F7	T	2	2
OR11H4	390442	broad.mit.edu	37	14	20711715	20711715	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:20711715G>A	uc010tld.1	+	1	765	c.765G>A	c.(763-765)TTG>TTA	p.L255L		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H,	255	Helical; Name=6; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)														---	---	---	---	capture+wgs		Silent	SNP	20711715	20711715	11334	14	G	A	A	47	47	OR11H4	A	2	2
MYH7	4625	broad.mit.edu	37	14	23884939	23884939	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:23884939C>G	uc001wjx.2	-	35	5162	c.5056G>C	c.(5056-5058)GAG>CAG	p.E1686Q		NM_000257	NP_000248	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1686	Potential.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(3)|skin(1)	4	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	23884939	23884939	10434	14	C	G	G	30	30	MYH7	G	3	3
C14orf21	161424	broad.mit.edu	37	14	24772988	24772988	+	Silent	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:24772988C>G	uc001wol.1	+	7	1398	c.1335C>G	c.(1333-1335)CTC>CTG	p.L445L	C14orf21_uc001wom.1_5'UTR	NM_174913	NP_777573	Q86U38	CN021_HUMAN	hypothetical protein LOC161424	445							RNA binding			breast(2)|central_nervous_system(1)|skin(1)	4				GBM - Glioblastoma multiforme(265;0.0185)														---	---	---	---	capture+wgs		Silent	SNP	24772988	24772988	1818	14	C	G	G	32	32	C14orf21	G	3	3
BAZ1A	11177	broad.mit.edu	37	14	35240723	35240723	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:35240723G>C	uc001wsk.2	-	21	3863	c.3295C>G	c.(3295-3297)CCA>GCA	p.P1099A	BAZ1A_uc001wsl.2_Missense_Mutation_p.P1067A	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1099					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1)	7	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	35240723	35240723	1350	14	G	C	C	41	41	BAZ1A	C	3	3
INSM2	84684	broad.mit.edu	37	14	36004316	36004316	+	Silent	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:36004316C>A	uc001wth.1	+	1	1069	c.858C>A	c.(856-858)ATC>ATA	p.I286I		NM_032594	NP_115983	Q96T92	INSM2_HUMAN	insulinoma-associated protein IA-6	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|skin(1)	2	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)														---	---	---	---	capture+wgs		Silent	SNP	36004316	36004316	8073	14	C	A	A	31	31	INSM2	A	1	1
KTN1	3895	broad.mit.edu	37	14	56085932	56085932	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:56085932C>A	uc001xcb.2	+	6	1167	c.865C>A	c.(865-867)CTG>ATG	p.L289M	KTN1_uc001xce.2_Missense_Mutation_p.L289M|KTN1_uc001xcc.2_Missense_Mutation_p.L289M|KTN1_uc001xcd.2_Missense_Mutation_p.L289M|KTN1_uc010trb.1_Missense_Mutation_p.L289M|KTN1_uc001xcf.1_Missense_Mutation_p.L289M	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	kinectin 1 isoform a	289	Lumenal (Potential).				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7								T	RET	papillary thryoid								---	---	---	---	capture+wgs		Missense_Mutation	SNP	56085932	56085932	8908	14	C	A	A	32	32	KTN1	A	2	2
SLC38A6	145389	broad.mit.edu	37	14	61517235	61517235	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:61517235G>C	uc001xfg.1	+	13	1047	c.931G>C	c.(931-933)GTG>CTG	p.V311L	SLC38A6_uc001xfh.1_Missense_Mutation_p.V311L|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.V288L	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	311					amino acid transport|sodium ion transport	integral to membrane				ovary(1)|central_nervous_system(1)|skin(1)	3				OV - Ovarian serous cystadenocarcinoma(108;0.0981)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	61517235	61517235	15105	14	G	C	C	36	36	SLC38A6	C	3	3
PLEKHG3	26030	broad.mit.edu	37	14	65210009	65210009	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:65210009C>A	uc001xho.1	+	17	3517	c.3248C>A	c.(3247-3249)CCG>CAG	p.P1083Q	PLEKHG3_uc001xhn.1_Missense_Mutation_p.P1027Q|PLEKHG3_uc001xhp.2_Missense_Mutation_p.P1204Q|PLEKHG3_uc010aqh.1_Missense_Mutation_p.P625Q|PLEKHG3_uc001xhq.1_Missense_Mutation_p.P588Q	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G,	1083					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			skin(1)	1				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)														---	---	---	---	capture		Missense_Mutation	SNP	65210009	65210009	12496	14	C	A	A	23	23	PLEKHG3	A	1	1
NEK9	91754	broad.mit.edu	37	14	75587213	75587213	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:75587213C>A	uc001xrl.2	-	4	678	c.524G>T	c.(523-525)AGA>ATA	p.R175I		NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	175	Protein kinase.				cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			lung(2)|stomach(2)|ovary(1)	5				BRCA - Breast invasive adenocarcinoma(234;0.00718)														---	---	---	---	capture		Missense_Mutation	SNP	75587213	75587213	10730	14	C	A	A	24	24	NEK9	A	2	2
ESRRB	2103	broad.mit.edu	37	14	76948971	76948971	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:76948971C>A	uc001xsq.1	+	5	723	c.656C>A	c.(655-657)GCT>GAT	p.A219D	ESRRB_uc001xsr.2_Missense_Mutation_p.A219D|ESRRB_uc001xso.2_RNA	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	219						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			ovary(1)|skin(1)	2				BRCA - Breast invasive adenocarcinoma(234;0.0213)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	76948971	76948971	5454	14	C	A	A	28	28	ESRRB	A	2	2
C14orf4	64207	broad.mit.edu	37	14	77492209	77492209	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:77492209C>T	uc001xsy.2	-	1	2826	c.1927G>A	c.(1927-1929)GGC>AGC	p.G643S		NM_024496	NP_078772	Q9H1B7	I2BPL_HUMAN	chromosome 14 open reading frame 4	643						nucleus					0			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	77492209	77492209	1823	14	C	T	T	21	21	C14orf4	T	2	2
C14orf145	145508	broad.mit.edu	37	14	81302659	81302659	+	Missense_Mutation	SNP	A	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:81302659A>C	uc001xux.2	-	11	1118	c.947T>G	c.(946-948)CTT>CGT	p.L316R	C14orf145_uc010asz.1_RNA|C14orf145_uc001xuz.2_Missense_Mutation_p.L316R|C14orf145_uc001xuy.1_Missense_Mutation_p.L174R	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	hypothetical protein LOC145508	316	Potential.					centriole|spindle pole					0				BRCA - Breast invasive adenocarcinoma(234;0.0586)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	81302659	81302659	1797	14	A	C	C	3	3	C14orf145	C	4	4
CDC42BPB	9578	broad.mit.edu	37	14	103442072	103442072	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:103442072C>G	uc001ymi.1	-	11	1688	c.1456G>C	c.(1456-1458)GAA>CAA	p.E486Q		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	CDC42-binding protein kinase beta	486	Potential.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	103442072	103442072	3201	14	C	G	G	32	32	CDC42BPB	G	3	3
KIAA0284	283638	broad.mit.edu	37	14	105344820	105344820	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105344820C>T	uc010axb.2	+	5	539	c.315C>T	c.(313-315)GTC>GTT	p.V105V	INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_Silent_p.V35V|KIAA0284_uc001yps.2_Silent_p.V11V	NM_001112726	NP_001106197	Q9Y4F5	K0284_HUMAN	hypothetical protein LOC283638 isoform 1	105						cytoplasm|microtubule				breast(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)														---	---	---	---	capture+wgs		Silent	SNP	105344820	105344820	8473	14	C	T	T	30	30	KIAA0284	T	2	2
AHNAK2	113146	broad.mit.edu	37	14	105405698	105405698	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:105405698T>A	uc010axc.1	-	7	16210	c.16090A>T	c.(16090-16092)ATG>TTG	p.M5364L	AHNAK2_uc001ypx.2_Missense_Mutation_p.M5264L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5364						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+wgs		Missense_Mutation	SNP	105405698	105405698	418	14	T	A	A	49	49	AHNAK2	A	4	4
TRPM1	4308	broad.mit.edu	37	15	31294476	31294476	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:31294476T>C	uc001zfm.2	-	27	4489	c.4361A>G	c.(4360-4362)CAG>CGG	p.Q1454R	TRPM1_uc010azy.2_Missense_Mutation_p.Q1361R|TRPM1_uc001zfl.2_RNA	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel,	1454	Cytoplasmic (Potential).				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			ovary(2)|pancreas(1)|skin(1)	4		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	31294476	31294476	17136	15	T	C	C	55	55	TRPM1	C	4	4
TGM5	9333	broad.mit.edu	37	15	43527676	43527676	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:43527676G>T	uc001zrd.1	-	10	1713	c.1705C>A	c.(1705-1707)CCT>ACT	p.P569T	TGM5_uc001zrc.1_Missense_Mutation_p.P226T|TGM5_uc001zre.1_Missense_Mutation_p.P487T	NM_201631	NP_963925	O43548	TGM5_HUMAN	transglutaminase 5 isoform 1	569					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)	1		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)													---	---	---	---	capture		Missense_Mutation	SNP	43527676	43527676	16361	15	G	T	T	41	41	TGM5	T	2	2
ATP8B4	79895	broad.mit.edu	37	15	50158593	50158593	+	Missense_Mutation	SNP	A	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:50158593A>C	uc001zxu.2	-	26	3258	c.3116T>G	c.(3115-3117)ATG>AGG	p.M1039R	ATP8B4_uc010ber.2_Missense_Mutation_p.M912R|ATP8B4_uc010ufd.1_Missense_Mutation_p.M849R|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.M42R	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	ATPase class I type 8B member 4	1039	Helical; (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+wgs		Missense_Mutation	SNP	50158593	50158593	1216	15	A	C	C	8	8	ATP8B4	C	4	4
LCTL	197021	broad.mit.edu	37	15	66850219	66850219	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:66850219G>T	uc002aqc.2	-	8	895	c.763C>A	c.(763-765)CTG>ATG	p.L255M	LCTL_uc002aqd.3_Missense_Mutation_p.L82M|LCTL_uc010bhw.2_Translation_Start_Site	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	lactase-like precursor	255	Extracellular (Potential).				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			ovary(2)	2																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	66850219	66850219	9018	15	G	T	T	33	33	LCTL	T	2	2
ITGA11	22801	broad.mit.edu	37	15	68624279	68624279	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:68624279C>T	uc002ari.2	-	14	1775	c.1688G>A	c.(1687-1689)GGA>GAA	p.G563E	ITGA11_uc010bib.2_Missense_Mutation_p.G563E	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	integrin, alpha 11 precursor	563	FG-GAP 6.|Extracellular (Potential).				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			kidney(2)|pancreas(1)	3					Tirofiban(DB00775)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	68624279	68624279	8178	15	C	T	T	30	30	ITGA11	T	2	2
SGK269	79834	broad.mit.edu	37	15	77472907	77472907	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:77472907G>T	uc002bcm.2	-	3	1670	c.1362C>A	c.(1360-1362)CCC>CCA	p.P454P	SGK269_uc002bcn.2_Silent_p.P454P	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	NKF3 kinase family member	454					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding				0				STAD - Stomach adenocarcinoma(199;0.124)														---	---	---	---	capture		Silent	SNP	77472907	77472907	14702	15	G	T	T	47	47	SGK269	T	2	2
AP3B2	8120	broad.mit.edu	37	15	83358145	83358145	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:83358145C>T	uc010uoh.1	-	2	351	c.174G>A	c.(172-174)ATG>ATA	p.M58I	AP3B2_uc010uoi.1_Missense_Mutation_p.M58I|AP3B2_uc010uoj.1_Missense_Mutation_p.M58I|AP3B2_uc010uok.1_Missense_Mutation_p.M58I	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2	58					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			ovary(3)|breast(1)|pancreas(1)	5			BRCA - Breast invasive adenocarcinoma(143;0.229)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	83358145	83358145	755	15	C	T	T	29	29	AP3B2	T	2	2
ALPK3	57538	broad.mit.edu	37	15	85407730	85407730	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85407730G>A	uc002ble.2	+	12	5330	c.5163G>A	c.(5161-5163)CTG>CTA	p.L1721L	ALPK3_uc010upc.1_Silent_p.L22L	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1721	Alpha-type protein kinase.				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+wgs		Silent	SNP	85407730	85407730	549	15	G	A	A	47	47	ALPK3	A	2	2
PDE8A	5151	broad.mit.edu	37	15	85661024	85661024	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:85661024A>T	uc002blh.2	+	17	1877	c.1688A>T	c.(1687-1689)GAT>GTT	p.D563V	PDE8A_uc002bli.2_Missense_Mutation_p.D517V|PDE8A_uc010bnc.2_Missense_Mutation_p.D316V|PDE8A_uc010bnd.2_Missense_Mutation_p.D316V|PDE8A_uc002blj.2_Missense_Mutation_p.D183V|PDE8A_uc002blk.2_Missense_Mutation_p.D183V|PDE8A_uc002bll.2_5'Flank	NM_002605	NP_002596	O60658	PDE8A_HUMAN	phosphodiesterase 8A isoform 1	563	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			ovary(2)|pancreas(1)|skin(1)	4	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	85661024	85661024	12074	15	A	T	T	12	12	PDE8A	T	4	4
ARRDC4	91947	broad.mit.edu	37	15	98509239	98509239	+	Silent	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:98509239T>C	uc010bom.2	+	3	648	c.489T>C	c.(487-489)GTT>GTC	p.V163V	ARRDC4_uc002bui.3_Silent_p.V76V	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	163					signal transduction						0	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)															---	---	---	---	capture+wgs		Silent	SNP	98509239	98509239	1003	15	T	C	C	61	61	ARRDC4	C	4	4
RHOT2	89941	broad.mit.edu	37	16	722740	722740	+	Missense_Mutation	SNP	C	T	T	rs150996889	byFrequency	TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:722740C>T	uc002cip.2	+	17	1509	c.1442C>T	c.(1441-1443)TCG>TTG	p.S481L	RHOT2_uc002ciq.2_Missense_Mutation_p.S374L|RHOT2_uc010bqy.2_Missense_Mutation_p.S260L|RHBDL1_uc002cir.1_5'Flank|RHBDL1_uc010uun.1_5'Flank	NM_138769	NP_620124	Q8IXI1	MIRO2_HUMAN	ras homolog gene family, member T2	481	Miro 2.|Mitochondrial intermembrane (Potential).				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			pancreas(1)	1		Hepatocellular(780;0.0218)																---	---	---	---	capture+wgs		Missense_Mutation	SNP	722740	722740	13819	16	C	T	T	31	31	RHOT2	T	1	1
TIGD7	91151	broad.mit.edu	37	16	3349210	3349210	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:3349210C>G	uc002cus.2	-	1	2191	c.1405G>C	c.(1405-1407)GAG>CAG	p.E469Q	ZNF263_uc002cur.2_3'UTR	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	469					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	3349210	3349210	16430	16	C	G	G	29	29	TIGD7	G	3	3
UBN1	29855	broad.mit.edu	37	16	4924300	4924300	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:4924300G>A	uc002cyb.2	+	15	2228	c.1889G>A	c.(1888-1890)GGA>GAA	p.G630E	UBN1_uc010uxw.1_Missense_Mutation_p.G630E|UBN1_uc002cyc.2_Missense_Mutation_p.G630E	NM_001079514	NP_001072982	Q9NPG3	UBN1_HUMAN	ubinuclein 1	630					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			skin(2)	2																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	4924300	4924300	17450	16	G	A	A	41	41	UBN1	A	2	2
TNP2	7142	broad.mit.edu	37	16	11362982	11362982	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:11362982G>C	uc002das.2	-	1	179	c.138C>G	c.(136-138)AGC>AGG	p.S46R	C16orf75_uc002daq.1_Intron	NM_005425	NP_005416	Q05952	STP2_HUMAN	transition protein 2 (during histone to	46					cell differentiation|multicellular organismal development|spermatogenesis	nucleosome|nucleus	DNA binding				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	11362982	11362982	16875	16	G	C	C	42	42	TNP2	C	3	3
KIAA0430	9665	broad.mit.edu	37	16	15690595	15690595	+	Silent	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:15690595G>C	uc002ddr.2	-	27	5377	c.5184C>G	c.(5182-5184)GTC>GTG	p.V1728V	KIAA0430_uc002ddq.2_Silent_p.V1562V|KIAA0430_uc010uzv.1_Silent_p.V1724V|KIAA0430_uc010uzw.1_Silent_p.V1727V	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	limkain b1	1727						peroxisome	nucleotide binding|RNA binding				0																		---	---	---	---	capture+wgs		Silent	SNP	15690595	15690595	8484	16	G	C	C	45	45	KIAA0430	C	3	3
SMG1	23049	broad.mit.edu	37	16	18847402	18847402	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:18847402C>A	uc002dfm.2	-	48	8273	c.7910G>T	c.(7909-7911)TGT>TTT	p.C2637F	SMG1_uc010bwb.2_Missense_Mutation_p.C2497F|SMG1_uc010bwa.2_Missense_Mutation_p.C1368F	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	PI-3-kinase-related kinase SMG-1	2637					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+wgs		Missense_Mutation	SNP	18847402	18847402	15293	16	C	A	A	17	17	SMG1	A	2	2
TMC7	79905	broad.mit.edu	37	16	19027784	19027784	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19027784G>C	uc002dfq.2	+	3	454	c.324G>C	c.(322-324)GAG>GAC	p.E108D	TMC7_uc010vao.1_Missense_Mutation_p.E108D|TMC7_uc002dfp.2_Missense_Mutation_p.E108D|TMC7_uc010vap.1_5'UTR	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7 isoform a	108	Extracellular (Potential).					integral to membrane				skin(2)|ovary(1)	3																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	19027784	19027784	16520	16	G	C	C	33	33	TMC7	C	3	3
CP110	9738	broad.mit.edu	37	16	19548053	19548053	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:19548053C>G	uc002dgl.3	+	4	1309	c.1062C>G	c.(1060-1062)ATC>ATG	p.I354M	CP110_uc002dgk.3_Missense_Mutation_p.I354M			O43303	CP110_HUMAN	RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;	354	Interaction with CEP76.				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	19548053	19548053	3926	16	C	G	G	29	29	CP110	G	3	3
ACSM2B	348158	broad.mit.edu	37	16	20565212	20565212	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:20565212C>A	uc002dhj.3	-	6	837	c.627G>T	c.(625-627)GAG>GAT	p.E209D	ACSM2B_uc002dhk.3_Missense_Mutation_p.E209D|ACSM2B_uc010bwf.1_Missense_Mutation_p.E209D	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member	209					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			skin(3)|ovary(1)|central_nervous_system(1)	5																		---	---	---	---	capture		Missense_Mutation	SNP	20565212	20565212	185	16	C	A	A	32	32	ACSM2B	A	2	2
CACNG3	10368	broad.mit.edu	37	16	24372945	24372945	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:24372945T>C	uc002dmf.2	+	4	1909	c.709T>C	c.(709-711)TCT>CCT	p.S237P		NM_006539	NP_006530	O60359	CCG3_HUMAN	voltage-dependent calcium channel gamma-3	237					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity				0				GBM - Glioblastoma multiforme(48;0.0809)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	24372945	24372945	2674	16	T	C	C	62	62	CACNG3	C	4	4
JMJD5	79831	broad.mit.edu	37	16	27231747	27231747	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:27231747C>A	uc002doh.2	+	7	1209	c.1027C>A	c.(1027-1029)CCG>ACG	p.P343T	JMJD5_uc010vcn.1_Missense_Mutation_p.P381T|JMJD5_uc010bxw.2_Intron|JMJD5_uc010bxx.2_RNA	NM_024773	NP_079049	Q8N371	KDM8_HUMAN	jumonji domain containing 5 isoform 2	343	JmjC.				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			ovary(2)|upper_aerodigestive_tract(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	27231747	27231747	8256	16	C	A	A	22	22	JMJD5	A	2	2
HIRIP3	8479	broad.mit.edu	37	16	30005532	30005532	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30005532G>T	uc002dve.2	-	4	1395	c.934C>A	c.(934-936)CCA>ACA	p.P312T	uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|INO80E_uc002dvi.1_5'Flank|INO80E_uc002dvj.1_5'Flank|INO80E_uc002dvk.1_5'Flank|HIRIP3_uc002dvf.2_Intron	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	312					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	30005532	30005532	7406	16	G	T	T	43	43	HIRIP3	T	2	2
SRCAP	10847	broad.mit.edu	37	16	30749897	30749897	+	Nonsense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:30749897G>T	uc002dze.1	+	34	8921	c.8536G>T	c.(8536-8538)GGA>TGA	p.G2846*	SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Nonsense_Mutation_p.G2641*	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Snf2-related CBP activator protein	2846	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			ovary(3)|skin(1)	4			Colorectal(24;0.198)															---	---	---	---	capture		Nonsense_Mutation	SNP	30749897	30749897	15649	16	G	T	T	39	39	SRCAP	T	5	1
MT1A	4489	broad.mit.edu	37	16	56673832	56673832	+	Silent	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:56673832G>C	uc002ejq.2	+	3	229	c.156G>C	c.(154-156)GGG>GGC	p.G52G	MT1A_uc002eji.2_RNA	NM_005946	NP_005937	P04731	MT1A_HUMAN	metallothionein 1A	52	Alpha.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding				0																		---	---	---	---	capture+wgs		Silent	SNP	56673832	56673832	10290	16	G	C	C	43	43	MT1A	C	3	3
RSPRY1	89970	broad.mit.edu	37	16	57250871	57250871	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:57250871G>T	uc002elb.2	+	8	1103	c.825G>T	c.(823-825)TTG>TTT	p.L275F	RSPRY1_uc002elc.2_Missense_Mutation_p.L275F|RSPRY1_uc002eld.2_Missense_Mutation_p.L275F	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	275						extracellular region	zinc ion binding			ovary(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	57250871	57250871	14193	16	G	T	T	47	47	RSPRY1	T	2	2
ZNF319	57567	broad.mit.edu	37	16	58032164	58032164	+	Silent	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:58032164C>A	uc002emx.1	-	2	629	c.6G>T	c.(4-6)TCG>TCT	p.S2S		NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	capture		Silent	SNP	58032164	58032164	18429	16	C	A	A	23	23	ZNF319	A	1	1
WWP2	11060	broad.mit.edu	37	16	69874130	69874130	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:69874130C>T	uc002exu.1	+	6	531	c.442C>T	c.(442-444)CTG>TTG	p.L148L	WWP2_uc002ext.2_Silent_p.L148L|WWP2_uc002exv.1_Silent_p.L148L|WWP2_uc010vlm.1_Silent_p.L32L	NM_007014	NP_008945	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase	148					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			lung(3)|ovary(1)|breast(1)|skin(1)	6																		---	---	---	---	capture+wgs		Silent	SNP	69874130	69874130	17990	16	C	T	T	32	32	WWP2	T	2	2
ADAMTS18	170692	broad.mit.edu	37	16	77398203	77398203	+	Nonsense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:77398203G>C	uc002ffc.3	-	5	1273	c.854C>G	c.(853-855)TCA>TGA	p.S285*	ADAMTS18_uc010chc.1_5'Flank|ADAMTS18_uc002ffe.1_Translation_Start_Site|ADAMTS18_uc010vni.1_RNA	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1	285					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1)	18																		---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	77398203	77398203	264	16	G	C	C	45	45	ADAMTS18	C	5	3
CDH13	1012	broad.mit.edu	37	16	83159090	83159090	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:83159090C>A	uc002fgx.2	+	4	587	c.467C>A	c.(466-468)CCA>CAA	p.P156Q	CDH13_uc010chh.2_Missense_Mutation_p.P156Q|CDH13_uc010vns.1_Missense_Mutation_p.P203Q|CDH13_uc010vnt.1_5'UTR|CDH13_uc010vnu.1_Intron	NM_001257	NP_001248	P55290	CAD13_HUMAN	cadherin 13 preproprotein	156	Cadherin 1.				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)														---	---	---	---	capture		Missense_Mutation	SNP	83159090	83159090	3228	16	C	A	A	21	21	CDH13	A	2	2
OR1D2	4991	broad.mit.edu	37	17	2995592	2995592	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:2995592C>T	uc010vrb.1	-	1	699	c.699G>A	c.(697-699)AAG>AAA	p.K233K		NM_002548	NP_002539	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D,	233	Cytoplasmic (Potential).				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			ovary(1)	1																		---	---	---	---	capture+wgs		Silent	SNP	2995592	2995592	11359	17	C	T	T	32	32	OR1D2	T	2	2
ASGR1	432	broad.mit.edu	37	17	7080327	7080327	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7080327C>A	uc002ges.3	-	4	666	c.256G>T	c.(256-258)GCC>TCC	p.A86S	ASGR1_uc010clx.1_5'UTR	NM_001671	NP_001662	P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	86	Potential.|Extracellular (Probable).				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	7080327	7080327	1058	17	C	A	A	26	26	ASGR1	A	2	2
NEURL4	84461	broad.mit.edu	37	17	7226420	7226420	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7226420C>A	uc002gga.1	-	15	2447	c.2440G>T	c.(2440-2442)GGT>TGT	p.G814C	NEURL4_uc002ggb.1_Missense_Mutation_p.G814C|NEURL4_uc002ggc.1_Missense_Mutation_p.G160C	NM_032442	NP_115818	Q96JN8	NEUL4_HUMAN	neuralized homolog 4 isoform 1	814	NHR 4.						protein binding			upper_aerodigestive_tract(1)|ovary(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	7226420	7226420	10747	17	C	A	A	23	23	NEURL4	A	1	1
ZBTB4	57659	broad.mit.edu	37	17	7365801	7365801	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7365801C>A	uc002ghc.3	-	4	2750	c.2500G>T	c.(2500-2502)GGG>TGG	p.G834W	ZBTB4_uc002ghd.3_Missense_Mutation_p.G834W	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	834					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			skin(2)|ovary(1)|central_nervous_system(1)	4		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)														---	---	---	---	capture		Missense_Mutation	SNP	7365801	7365801	18127	17	C	A	A	23	23	ZBTB4	A	1	1
TP53	7157	broad.mit.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7578271T>A	uc002gim.2	-	6	772	c.578A>T	c.(577-579)CAT>CTT	p.H193L	TP53_uc002gig.1_Missense_Mutation_p.H193L|TP53_uc002gih.2_Missense_Mutation_p.H193L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H61L|TP53_uc010cng.1_Missense_Mutation_p.H61L|TP53_uc002gii.1_Missense_Mutation_p.H61L|TP53_uc010cnh.1_Missense_Mutation_p.H193L|TP53_uc010cni.1_Missense_Mutation_p.H193L|TP53_uc002gij.2_Missense_Mutation_p.H193L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100L|TP53_uc002gio.2_Missense_Mutation_p.H61L|TP53_uc010vug.1_Missense_Mutation_p.H154L	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	193	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		H -> D (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (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.H193R(67)|p.H193L(31)|p.H193Y(26)|p.H193P(12)|p.0?(7)|p.H193D(7)|p.H193N(4)|p.A189_V197delAPPQHLIRV(4)|p.H193fs*16(3)|p.H193H(2)|p.P191fs*53(2)|p.K164_P219del(1)|p.P191fs*15(1)|p.P191fs*6(1)|p.H100L(1)|p.H61L(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.A189fs*53(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+wgs		Missense_Mutation	SNP	7578271	7578271	16923	17	T	A	A	51	51	TP53	A	4	4
ALOX12B	242	broad.mit.edu	37	17	7979632	7979632	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7979632C>A	uc002gjy.1	-	11	1654	c.1393G>T	c.(1393-1395)GGG>TGG	p.G465W		NM_001139	NP_001130	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	465	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity				0															Multiple Myeloma(8;0.094)			---	---	---	---	capture		Missense_Mutation	SNP	7979632	7979632	540	17	C	A	A	21	21	ALOX12B	A	2	2
MYH1	4619	broad.mit.edu	37	17	10406144	10406144	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10406144G>T	uc002gmo.2	-	24	3116	c.3022C>A	c.(3022-3024)CAG>AAG	p.Q1008K	uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1008	Potential.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21																		---	---	---	---	capture		Missense_Mutation	SNP	10406144	10406144	10424	17	G	T	T	47	47	MYH1	T	2	2
MYH2	4620	broad.mit.edu	37	17	10428145	10428145	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:10428145G>T	uc010coi.2	-	34	5028	c.4900C>A	c.(4900-4902)CAG>AAG	p.Q1634K	uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.Q1634K|MYH2_uc010coj.2_Intron	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN	myosin heavy chain IIa	1634	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.Q1634L(1)		ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	10428145	10428145	10430	17	G	T	T	47	47	MYH2	T	2	2
DNAH9	1770	broad.mit.edu	37	17	11603086	11603086	+	Silent	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:11603086C>G	uc002gne.2	+	23	4979	c.4911C>G	c.(4909-4911)GCC>GCG	p.A1637A	DNAH9_uc010coo.2_Silent_p.A931A	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9 isoform 2	1637	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)														---	---	---	---	capture+wgs		Silent	SNP	11603086	11603086	4791	17	C	G	G	21	21	DNAH9	G	3	3
ZNF286A	57335	broad.mit.edu	37	17	15620032	15620032	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:15620032G>T	uc010cot.2	+	6	1390	c.994G>T	c.(994-996)GGG>TGG	p.G332W	ZNF286A_uc002goz.3_Missense_Mutation_p.G220W|ZNF286A_uc010vwa.1_Missense_Mutation_p.G332W|ZNF286A_uc002gpa.2_Missense_Mutation_p.G332W	NM_001130842	NP_001124314	Q9HBT8	Z286A_HUMAN	zinc finger protein 286	332	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)	1				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)														---	---	---	---	capture		Missense_Mutation	SNP	15620032	15620032	18415	17	G	T	T	47	47	ZNF286A	T	2	2
SREBF1	6720	broad.mit.edu	37	17	17723574	17723574	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:17723574G>T	uc002gru.1	-	2	547	c.353C>A	c.(352-354)CCT>CAT	p.P118H	SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_Translation_Start_Site|SREBF1_uc002grr.1_Translation_Start_Site|SREBF1_uc002grs.1_Missense_Mutation_p.P94H|SREBF1_uc002grt.1_Missense_Mutation_p.P148H|SREBF1_uc010cpp.1_Missense_Mutation_p.P94H|SREBF1_uc010cpq.1_Missense_Mutation_p.P118H	NM_004176	NP_004167	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription	118	Pro/Ser-rich.|Cytoplasmic (Potential).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			skin(1)	1																		---	---	---	---	capture		Missense_Mutation	SNP	17723574	17723574	15655	17	G	T	T	35	35	SREBF1	T	2	2
GPR179	440435	broad.mit.edu	37	17	36483612	36483612	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:36483612C>A	uc002hpz.2	-	11	5861	c.5840G>T	c.(5839-5841)GGG>GTG	p.G1947V		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	GPR158-like 1 precursor	1947	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(3)	3	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)																---	---	---	---	capture		Missense_Mutation	SNP	36483612	36483612	6949	17	C	A	A	22	22	GPR179	A	2	2
ORMDL3	94103	broad.mit.edu	37	17	38079468	38079468	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:38079468G>T	uc002htj.1	-	3	363	c.223C>A	c.(223-225)CCG>ACG	p.P75T	ORMDL3_uc002hti.1_RNA|ORMDL3_uc002htk.1_Missense_Mutation_p.P75T	NM_139280	NP_644809	Q8N138	ORML3_HUMAN	ORM1-like 3	75	Lumenal (Potential).				ceramide metabolic process	integral to membrane|SPOTS complex	protein binding				0	Colorectal(19;0.000442)		Lung(15;0.0234)															---	---	---	---	capture		Missense_Mutation	SNP	38079468	38079468	11682	17	G	T	T	43	43	ORMDL3	T	2	2
CUEDC1	404093	broad.mit.edu	37	17	55948728	55948728	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:55948728G>T	uc002ivd.1	-	6	1506	c.787C>A	c.(787-789)CGA>AGA	p.R263R	CUEDC1_uc002ive.1_Silent_p.R263R	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	CUE domain-containing 1	263										skin(2)	2																		---	---	---	---	capture+wgs		Silent	SNP	55948728	55948728	4212	17	G	T	T	37	37	CUEDC1	T	1	1
MARCH10	162333	broad.mit.edu	37	17	60788625	60788625	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:60788625C>G	uc010ddr.2	-	9	2533	c.2295G>C	c.(2293-2295)ATG>ATC	p.M765I	MARCH10_uc002jag.3_Missense_Mutation_p.M765I|MARCH10_uc010dds.2_Missense_Mutation_p.M803I|MARCH10_uc002jah.2_Missense_Mutation_p.M764I|uc002jaj.1_Intron|uc002jak.2_Intron	NM_001100875	NP_001094345	Q8NA82	MARHA_HUMAN	ring finger protein 190	765							ligase activity|zinc ion binding				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	60788625	60788625	9682	17	C	G	G	29	29	MARCH10	G	3	3
LRRC37A3	374819	broad.mit.edu	37	17	62856037	62856037	+	Silent	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:62856037T>C	uc002jey.2	-	11	4758	c.4227A>G	c.(4225-4227)CCA>CCG	p.P1409P	LRRC37A3_uc010wqg.1_Silent_p.P527P|LRRC37A3_uc002jex.1_Silent_p.P386P|LRRC37A3_uc010wqf.1_Silent_p.P447P|LRRC37A3_uc010dek.1_Silent_p.P415P	NM_199340	NP_955372	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1409	Extracellular (Potential).					integral to membrane					0																		---	---	---	---	capture		Silent	SNP	62856037	62856037	9368	17	T	C	C	55	55	LRRC37A3	C	4	4
KPNA2	3838	broad.mit.edu	37	17	66033297	66033297	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:66033297T>A	uc002jgk.2	+	2	181	c.49T>A	c.(49-51)TTC>ATC	p.F17I	KPNA2_uc002jgl.2_Missense_Mutation_p.F17I	NM_002266	NP_002257	P52292	IMA2_HUMAN	karyopherin alpha 2	17	IBB.				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			central_nervous_system(2)	2	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	66033297	66033297	8744	17	T	A	A	52	52	KPNA2	A	4	4
ABCA6	23460	broad.mit.edu	37	17	67119511	67119511	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:67119511C>G	uc002jhw.1	-	10	1480	c.1305G>C	c.(1303-1305)TTG>TTC	p.L435F		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A, member 6	435					transport	integral to membrane	ATP binding|ATPase activity			upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7	Breast(10;5.65e-12)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	67119511	67119511	37	17	C	G	G	29	29	ABCA6	G	3	3
CD300LB	124599	broad.mit.edu	37	17	72519002	72519002	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:72519002T>A	uc002jkx.2	-	4	605	c.592A>T	c.(592-594)ATC>TTC	p.I198F		NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	161	Helical; (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	72519002	72519002	3127	17	T	A	A	51	51	CD300LB	A	4	4
RNF157	114804	broad.mit.edu	37	17	74150388	74150388	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:74150388C>T	uc002jqz.2	-	17	1855	c.1786G>A	c.(1786-1788)GAG>AAG	p.E596K	RNF157_uc002jra.2_Missense_Mutation_p.E574K|uc002jrb.1_5'Flank	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	ring finger protein 157	596							zinc ion binding			ovary(1)	1			LUSC - Lung squamous cell carcinoma(166;0.187)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	74150388	74150388	13931	17	C	T	T	32	32	RNF157	T	2	2
PTPRM	5797	broad.mit.edu	37	18	8113592	8113592	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:8113592G>A	uc002knn.3	+	12	2468	c.1965G>A	c.(1963-1965)CTG>CTA	p.L655L	PTPRM_uc010dkv.2_Silent_p.L655L|PTPRM_uc010wzl.1_Silent_p.L442L	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	655	Fibronectin type-III 4.|Extracellular (Potential).				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)																---	---	---	---	capture+wgs		Silent	SNP	8113592	8113592	13263	18	G	A	A	45	45	PTPRM	A	2	2
DSC3	1825	broad.mit.edu	37	18	28587056	28587056	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28587056C>A	uc002kwj.3	-	12	1860	c.1705G>T	c.(1705-1707)GAT>TAT	p.D569Y	DSC3_uc002kwi.3_Missense_Mutation_p.D569Y	NM_001941	NP_001932	Q14574	DSC3_HUMAN	desmocollin 3 isoform Dsc3a preproprotein	569	Cadherin 4.|Extracellular (Potential).				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			ovary(2)|skin(2)	4			OV - Ovarian serous cystadenocarcinoma(10;0.125)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	28587056	28587056	4951	18	C	A	A	32	32	DSC3	A	2	2
DSG1	1828	broad.mit.edu	37	18	28934414	28934414	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:28934414G>T	uc002kwp.2	+	15	2467	c.2255G>T	c.(2254-2256)GGA>GTA	p.G752V	DSG1_uc010xbp.1_Missense_Mutation_p.G111V	NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	752	Cytoplasmic (Potential).				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	28934414	28934414	4960	18	G	T	T	41	41	DSG1	T	2	2
CDH20	28316	broad.mit.edu	37	18	59166620	59166620	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59166620G>C	uc010dps.1	+	2	460	c.448G>C	c.(448-450)GAG>CAG	p.E150Q	CDH20_uc002lif.2_Missense_Mutation_p.E144Q	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	cadherin 20, type 2 preproprotein	150	Cadherin 1.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|ovary(1)|pancreas(1)	5		Colorectal(73;0.186)																---	---	---	---	capture+wgs		Missense_Mutation	SNP	59166620	59166620	3235	18	G	C	C	33	33	CDH20	C	3	3
RNF152	220441	broad.mit.edu	37	18	59483298	59483298	+	Silent	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:59483298C>A	uc002lih.1	-	2	811	c.399G>T	c.(397-399)GTG>GTT	p.V133V		NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	ring finger protein 152	133					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)	1		Colorectal(73;0.186)																---	---	---	---	capture+wgs		Silent	SNP	59483298	59483298	13930	18	C	A	A	29	29	RNF152	A	2	2
AP3D1	8943	broad.mit.edu	37	19	2129329	2129329	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2129329C>G	uc002luz.2	-	7	943	c.720G>C	c.(718-720)AAG>AAC	p.K240N	AP3D1_uc002luy.2_Intron|AP3D1_uc002lva.2_Missense_Mutation_p.K240N	NM_003938	NP_003929	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1	240					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein 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+wgs		Missense_Mutation	SNP	2129329	2129329	756	19	C	G	G	32	32	AP3D1	G	3	3
SPPL2B	56928	broad.mit.edu	37	19	2345327	2345327	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:2345327C>T	uc002lvs.2	+	14	1433	c.1353C>T	c.(1351-1353)ATC>ATT	p.I451I	SPPL2B_uc002lvr.2_Silent_p.I451I	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	signal peptide peptidase-like 2B isoform 2	451	Helical; (Potential).					Golgi membrane|integral to membrane	aspartic-type endopeptidase 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+wgs		Silent	SNP	2345327	2345327	15602	19	C	T	T	31	31	SPPL2B	T	1	1
INSR	3643	broad.mit.edu	37	19	7122698	7122698	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:7122698G>T	uc002mgd.1	-	19	3565	c.3456C>A	c.(3454-3456)GCC>GCA	p.A1152A	INSR_uc002mge.1_Silent_p.A1140A	NM_000208	NP_000199	P06213	INSR_HUMAN	insulin receptor isoform Long precursor	1152	Protein kinase.|Cytoplasmic (Potential).				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1)	12					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)													---	---	---	---	capture		Silent	SNP	7122698	7122698	8074	19	G	T	T	47	47	INSR	T	2	2
CYP4F22	126410	broad.mit.edu	37	19	15640632	15640632	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:15640632C>A	uc002nbh.3	+	4	502	c.335C>A	c.(334-336)CCT>CAT	p.P112H		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F,	112						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			ovary(1)|pancreas(1)	2																		---	---	---	---	capture		Missense_Mutation	SNP	15640632	15640632	4354	19	C	A	A	24	24	CYP4F22	A	2	2
CYP4F11	57834	broad.mit.edu	37	19	16025601	16025601	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:16025601A>T	uc002nbu.2	-	10	1256	c.1220T>A	c.(1219-1221)GTG>GAG	p.V407E	CYP4F11_uc010eab.1_Missense_Mutation_p.V407E|CYP4F11_uc002nbt.2_Missense_Mutation_p.V407E	NM_001128932	NP_001122404	Q9HBI6	CP4FB_HUMAN	cytochrome P450 family 4 subfamily F polypeptide	407					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			ovary(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	16025601	16025601	4351	19	A	T	T	6	6	CYP4F11	T	4	4
ZNF254	9534	broad.mit.edu	37	19	24309470	24309470	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:24309470C>T	uc002nru.2	+	4	802	c.668C>T	c.(667-669)TCA>TTA	p.S223L	ZNF254_uc010xrk.1_Missense_Mutation_p.S138L	NM_203282	NP_975011	O75437	ZN254_HUMAN	zinc finger protein 254	223	C2H2-type 1; degenerate.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)																---	---	---	---	capture+wgs		Missense_Mutation	SNP	24309470	24309470	18389	19	C	T	T	29	29	ZNF254	T	2	2
RBM42	79171	broad.mit.edu	37	19	36120495	36120495	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36120495A>G	uc002oan.2	+	2	278	c.202A>G	c.(202-204)ACG>GCG	p.T68A	RBM42_uc010xsx.1_Missense_Mutation_p.T68A|RBM42_uc010eef.2_Missense_Mutation_p.T68A|RBM42_uc002oao.2_Missense_Mutation_p.T68A|RBM42_uc002oap.2_Missense_Mutation_p.T68A|RBM42_uc002oaq.2_Missense_Mutation_p.T68A|RBM42_uc010eeg.2_Missense_Mutation_p.T68A	NM_024321	NP_077297	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	68						cytoplasm|nucleus	nucleotide binding|RNA binding				0	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	36120495	36120495	13598	19	A	G	G	6	6	RBM42	G	4	4
NPHS1	4868	broad.mit.edu	37	19	36333142	36333142	+	Silent	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36333142C>G	uc002oby.2	-	19	2547	c.2547G>C	c.(2545-2547)GTG>GTC	p.V849V	NPHS1_uc010eem.1_5'Flank	NM_004646	NP_004637	O60500	NPHN_HUMAN	nephrin precursor	849	Ig-like C2-type 8.|Extracellular (Potential).				cell adhesion|excretion|muscle organ development	integral to plasma membrane				ovary(4)|skin(1)	5	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)															---	---	---	---	capture+wgs		Silent	SNP	36333142	36333142	10986	19	C	G	G	21	21	NPHS1	G	3	3
TBCB	1155	broad.mit.edu	37	19	36611661	36611661	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:36611661G>C	uc002odg.1	+	3	883	c.308G>C	c.(307-309)CGG>CCG	p.R103P	TBCB_uc002odh.1_Missense_Mutation_p.R84P	NM_001281	NP_001272	Q99426	TBCB_HUMAN	cytoskeleton associated protein 1	103					'de novo' posttranslational protein folding|cell differentiation|nervous system development	cytoplasm|microtubule	protein binding				0	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	36611661	36611661	16156	19	G	C	C	39	39	TBCB	C	3	3
SPRED3	399473	broad.mit.edu	37	19	38882630	38882630	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:38882630G>A	uc002oim.2	+	2	226	c.222G>A	c.(220-222)AAG>AAA	p.K74K	SPRED3_uc002oil.1_Silent_p.K74K	NM_001042522	NP_001035987	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	74	WH1.				multicellular organismal development					central_nervous_system(2)|lung(1)|skin(1)	4	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)															---	---	---	---	capture+wgs		Silent	SNP	38882630	38882630	15607	19	G	A	A	35	35	SPRED3	A	2	2
MEGF8	1954	broad.mit.edu	37	19	42863021	42863021	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:42863021G>T	uc002otl.3	+	29	5692	c.5057G>T	c.(5056-5058)CGG>CTG	p.R1686L	MEGF8_uc002otm.3_Missense_Mutation_p.R1294L	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1753	Extracellular (Potential).					integral to membrane	calcium ion binding|structural molecule activity			ovary(1)	1		Prostate(69;0.00682)																---	---	---	---	capture+wgs		Missense_Mutation	SNP	42863021	42863021	9852	19	G	T	T	39	39	MEGF8	T	1	1
CEACAM8	1088	broad.mit.edu	37	19	43092953	43092953	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43092953C>A	uc002oud.2	-	4	1043	c.941G>T	c.(940-942)AGG>ATG	p.R314M	uc010eif.1_Intron|uc010eig.1_Intron|uc010eih.1_Intron	NM_001816	NP_001807	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion	314	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				ovary(1)	1		Prostate(69;0.00899)																---	---	---	---	capture		Missense_Mutation	SNP	43092953	43092953	3331	19	C	A	A	24	24	CEACAM8	A	2	2
TEX101	83639	broad.mit.edu	37	19	43910665	43910665	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:43910665G>A	uc002owk.2	+	4	570	c.9G>A	c.(7-9)GCG>GCA	p.A3A		NM_031451	NP_113639	Q9BY14	TX101_HUMAN	testis expressed 101 isoform 1	Error:Variant_position_missing_in_Q9BY14_after_alignment						anchored to membrane|plasma membrane				ovary(1)	1		Prostate(69;0.0199)																---	---	---	---	capture+wgs		Silent	SNP	43910665	43910665	16300	19	G	A	A	37	37	TEX101	A	1	1
TMEM160	54958	broad.mit.edu	37	19	47549873	47549873	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47549873G>T	uc002pfz.2	-	2	289	c.279C>A	c.(277-279)GAC>GAA	p.D93E		NM_017854	NP_060324	Q9NX00	TM160_HUMAN	transmembrane protein 160	93						integral to membrane					0		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	47549873	47549873	16609	19	G	T	T	48	48	TMEM160	T	2	2
SAE1	10055	broad.mit.edu	37	19	47658370	47658370	+	Splice_Site	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:47658370G>T	uc002pgc.2	+	5	584	c.528_splice	c.e5-1	p.E176_splice	SAE1_uc002pgd.2_Splice_Site_p.E176_splice|SAE1_uc010ekx.2_Splice_Site_p.E176_splice|SAE1_uc010ekw.2_Splice_Site|SAE1_uc010xyk.1_Splice_Site_p.L2_splice|SAE1_uc002pge.2_Splice_Site_p.E112_splice	NM_016402	NP_057486			SubName: Full=SUMO-1 activating enzyme subunit 1, isoform CRA_b; SubName: Full=cDNA, FLJ96708, Homo sapiens SUMO-1 activating enzyme subunit 1 (SAE1), mRNA;						protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			ovary(1)	1		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)														---	---	---	---	capture		Splice_Site	SNP	47658370	47658370	14285	19	G	T	T	35	35	SAE1	T	5	2
PPP1R15A	23645	broad.mit.edu	37	19	49377887	49377887	+	Nonsense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49377887C>G	uc002pky.3	+	2	1666	c.1397C>G	c.(1396-1398)TCA>TGA	p.S466*		NM_014330	NP_055145	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	466	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			lung(1)	1		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;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)														---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	49377887	49377887	12798	19	C	G	G	29	29	PPP1R15A	G	5	3
HRC	3270	broad.mit.edu	37	19	49654775	49654775	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49654775G>C	uc002pmv.2	-	5	2249	c.2062C>G	c.(2062-2064)CAG>GAG	p.Q688E		NM_002152	NP_002143	P23327	SRCH_HUMAN	histidine rich calcium binding protein	688					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			ovary(1)	1		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	49654775	49654775	7644	19	G	C	C	45	45	HRC	C	3	3
TEAD2	8463	broad.mit.edu	37	19	49850474	49850474	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:49850474G>T	uc002pnj.2	-	9	973	c.882C>A	c.(880-882)CCC>CCA	p.P294P	TEAD2_uc002png.2_Silent_p.P297P|TEAD2_uc002pnh.2_Silent_p.P298P|TEAD2_uc002pni.2_Silent_p.P297P|TEAD2_uc010yao.1_Silent_p.P166P|TEAD2_uc010emw.2_Silent_p.P297P	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	TEA domain family member 2	294	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|ovary(1)	3		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)														---	---	---	---	capture		Silent	SNP	49850474	49850474	16266	19	G	T	T	43	43	TEAD2	T	2	2
SYT3	84258	broad.mit.edu	37	19	51132558	51132558	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:51132558C>T	uc002pst.2	-	4	1908	c.1274G>A	c.(1273-1275)GGC>GAC	p.G425D	SYT3_uc002psv.2_Missense_Mutation_p.G425D|SYT3_uc010ycd.1_Missense_Mutation_p.G425D	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN	synaptotagmin III	425	Cytoplasmic (Potential).					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			ovary(2)|breast(1)	3		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	51132558	51132558	15996	19	C	T	T	26	26	SYT3	T	2	2
VSTM1	284415	broad.mit.edu	37	19	54567010	54567010	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54567010G>T	uc002qcw.3	-	1	198	c.22C>A	c.(22-24)CTG>ATG	p.L8M	VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.L8M	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	8						integral to membrane					0	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)														---	---	---	---	capture		Missense_Mutation	SNP	54567010	54567010	17796	19	G	T	T	35	35	VSTM1	T	2	2
ZNF471	57573	broad.mit.edu	37	19	57035696	57035696	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57035696G>T	uc002qnh.2	+	5	393	c.260G>T	c.(259-261)TGG>TTG	p.W87L		NM_020813	NP_065864	Q9BX82	ZN471_HUMAN	zinc finger protein 471	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|ovary(1)	2		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)														---	---	---	---	capture		Missense_Mutation	SNP	57035696	57035696	18524	19	G	T	T	47	47	ZNF471	T	2	2
ZIM2	23619	broad.mit.edu	37	19	57286681	57286681	+	Missense_Mutation	SNP	G	A	A	rs138884282	by1000genomes	TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:57286681G>A	uc002qnr.2	-	11	1341	c.959C>T	c.(958-960)TCA>TTA	p.S320L	uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Missense_Mutation_p.S116L|ZIM2_uc010ygr.1_Missense_Mutation_p.S116L|ZIM2_uc002qnq.2_Missense_Mutation_p.S320L|ZIM2_uc010etp.2_Missense_Mutation_p.S320L|ZIM2_uc010ygs.1_Missense_Mutation_p.S320L	NM_015363	NP_056178	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(3)	3		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	57286681	57286681	18275	19	G	A	A	45	45	ZIM2	A	2	2
APOB	338	broad.mit.edu	37	2	21232830	21232830	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:21232830T>C	uc002red.2	-	26	7038	c.6910A>G	c.(6910-6912)ACA>GCA	p.T2304A		NM_000384	NP_000375	P04114	APOB_HUMAN	apolipoprotein B precursor	2304					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	21232830	21232830	796	2	T	C	C	57	57	APOB	C	4	4
ADCY3	109	broad.mit.edu	37	2	25062839	25062839	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:25062839C>T	uc002rfs.3	-	6	1457	c.1258G>A	c.(1258-1260)GTG>ATG	p.V420M	ADCY3_uc002rfr.3_Missense_Mutation_p.V31M|ADCY3_uc010ykm.1_Missense_Mutation_p.V420M	NM_004036	NP_004027	O60266	ADCY3_HUMAN	adenylate cyclase 3	420	Cytoplasmic (Potential).				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			breast(3)|ovary(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	25062839	25062839	296	2	C	T	T	19	19	ADCY3	T	1	1
HADHB	3032	broad.mit.edu	37	2	26502980	26502980	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:26502980C>G	uc002rgz.2	+	10	1181	c.930C>G	c.(928-930)TTC>TTG	p.F310L	HADHB_uc010ykv.1_Missense_Mutation_p.F288L|HADHB_uc010ykw.1_Missense_Mutation_p.F295L|HADHB_uc002rha.2_Missense_Mutation_p.F187L|HADHB_uc010ykx.1_Missense_Mutation_p.F236L	NM_000183	NP_000174	P55084	ECHB_HUMAN	mitochondrial trifunctional protein, beta	310					fatty acid beta-oxidation	mitochondrial nucleoid	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding			ovary(1)|breast(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	26502980	26502980	7226	2	C	G	G	32	32	HADHB	G	3	3
SRD5A2	6716	broad.mit.edu	37	2	31754473	31754473	+	Nonsense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:31754473C>T	uc002rnw.1	-	5	673	c.602G>A	c.(601-603)TGG>TAG	p.W201*		NM_000348	NP_000339	P31213	S5A2_HUMAN	3-oxo-5 alpha-steroid 4-dehydrogenase 2	201					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity				0	Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)													---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	31754473	31754473	15653	2	C	T	T	21	21	SRD5A2	T	5	2
THADA	63892	broad.mit.edu	37	2	43547631	43547631	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:43547631G>C	uc002rsw.3	-	31	4744	c.4392C>G	c.(4390-4392)TTC>TTG	p.F1464L	THADA_uc010far.2_Missense_Mutation_p.F659L|THADA_uc002rsx.3_Missense_Mutation_p.F1464L|THADA_uc002rsy.3_RNA	NM_001083953	NP_001077422	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1464							binding			ovary(2)|skin(1)	3		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)																---	---	---	---	capture+wgs		Missense_Mutation	SNP	43547631	43547631	16368	2	G	C	C	41	41	THADA	C	3	3
AFTPH	54812	broad.mit.edu	37	2	64780367	64780367	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:64780367G>C	uc002sdc.2	+	1	1791	c.1759G>C	c.(1759-1761)GCT>CCT	p.A587P	AFTPH_uc002scz.2_Missense_Mutation_p.A587P|AFTPH_uc002sda.2_Missense_Mutation_p.A587P|AFTPH_uc002sdb.2_Missense_Mutation_p.A587P	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	aftiphilin protein isoform a	587					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			ovary(2)	2																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	64780367	64780367	365	2	G	C	C	46	46	AFTPH	C	3	3
CCT7	10574	broad.mit.edu	37	2	73466796	73466796	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:73466796A>G	uc002siz.2	+	2	134	c.32A>G	c.(31-33)GAG>GGG	p.E11G	CCT7_uc002sja.2_Intron|CCT7_uc010yrf.1_5'UTR|CCT7_uc010feu.2_Missense_Mutation_p.E11G|CCT7_uc010yrg.1_5'UTR|CCT7_uc010yrh.1_5'UTR|CCT7_uc010yri.1_Intron	NM_006429	NP_006420	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 isoform a	11					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	73466796	73466796	3086	2	A	G	G	11	11	CCT7	G	4	4
ACTG2	72	broad.mit.edu	37	2	74140644	74140644	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74140644C>A	uc002sjw.2	+	6	606	c.484C>A	c.(484-486)CAC>AAC	p.H162N	ACTG2_uc010fey.2_Missense_Mutation_p.H162N|ACTG2_uc010yrn.1_Missense_Mutation_p.H119N	NM_001615	NP_001606	P63267	ACTH_HUMAN	actin, gamma 2 propeptide	162					muscle contraction	cytoskeleton|cytosol	ATP binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	74140644	74140644	198	2	C	A	A	21	21	ACTG2	A	2	2
CTNNA2	1496	broad.mit.edu	37	2	79878772	79878772	+	Silent	SNP	A	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79878772A>C	uc010ysh.1	+	1	95	c.90A>C	c.(88-90)CCA>CCC	p.P30P	CTNNA2_uc010yse.1_Silent_p.P30P|CTNNA2_uc010ysf.1_Silent_p.P30P|CTNNA2_uc010ysg.1_Silent_p.P30P|hsa-mir-4264|MI0015877_5'Flank	NM_004389	NP_004380	P26232	CTNA2_HUMAN	catenin, alpha 2 isoform 1	30					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			pancreas(4)|lung(3)|breast(1)|skin(1)	9																		---	---	---	---	capture+wgs		Silent	SNP	79878772	79878772	4172	2	A	C	C	6	6	CTNNA2	C	4	4
MAP4K4	9448	broad.mit.edu	37	2	102475492	102475492	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:102475492G>C	uc002tbg.2	+	14	1485	c.1430G>C	c.(1429-1431)CGG>CCG	p.R477P	MAP4K4_uc002tbc.2_Missense_Mutation_p.R477P|MAP4K4_uc002tbd.2_Missense_Mutation_p.R477P|MAP4K4_uc002tbe.2_Missense_Mutation_p.R477P|MAP4K4_uc002tbf.2_Missense_Mutation_p.R477P|MAP4K4_uc010yvy.1_Missense_Mutation_p.R477P|MAP4K4_uc002tbh.2_Missense_Mutation_p.R477P|MAP4K4_uc002tbi.2_Missense_Mutation_p.R330P|MAP4K4_uc010yvz.1_Missense_Mutation_p.R457P|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Missense_Mutation_p.R373P	NM_145687	NP_663720	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase	477					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			stomach(1)|lung(1)|central_nervous_system(1)|skin(1)	4																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	102475492	102475492	9645	2	G	C	C	39	39	MAP4K4	C	3	3
UXS1	80146	broad.mit.edu	37	2	106761715	106761715	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:106761715C>G	uc002tdm.2	-	6	486	c.388G>C	c.(388-390)GAG>CAG	p.E130Q	UXS1_uc002tdn.2_Missense_Mutation_p.E135Q|UXS1_uc002tdo.2_Missense_Mutation_p.E73Q|UXS1_uc010ywh.1_Intron	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	130	NAD.|Lumenal (Potential).				cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			ovary(2)	2																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	106761715	106761715	17674	2	C	G	G	30	30	UXS1	G	3	3
CKAP2L	150468	broad.mit.edu	37	2	113513768	113513768	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:113513768G>T	uc002tie.2	-	4	1259	c.1180C>A	c.(1180-1182)CCT>ACT	p.P394T	CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Missense_Mutation_p.P229T|CKAP2L_uc010yxq.1_Missense_Mutation_p.P229T	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	394						centrosome					0																		---	---	---	---	capture		Missense_Mutation	SNP	113513768	113513768	3579	2	G	T	T	43	43	CKAP2L	T	2	2
NCKAP5	344148	broad.mit.edu	37	2	133539570	133539570	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:133539570C>A	uc002ttp.2	-	14	5188	c.4814G>T	c.(4813-4815)AGA>ATA	p.R1605I	NCKAP5_uc002ttq.2_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Nck-associated protein 5 isoform 1	1605							protein binding				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	133539570	133539570	10622	2	C	A	A	32	32	NCKAP5	A	2	2
MGAT5	4249	broad.mit.edu	37	2	135185973	135185973	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:135185973G>C	uc002ttv.1	+	14	1977	c.1832G>C	c.(1831-1833)GGG>GCG	p.G611A		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	N-acetylglucosaminyltransferase V	611	Lumenal (Potential).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			ovary(2)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(221;0.0964)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	135185973	135185973	9938	2	G	C	C	43	43	MGAT5	C	3	3
LCT	3938	broad.mit.edu	37	2	136555694	136555694	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:136555694C>A	uc002tuu.1	-	13	4892	c.4881G>T	c.(4879-4881)TGG>TGT	p.W1627C		NM_002299	NP_002290	P09848	LPH_HUMAN	lactase-phlorizin hydrolase preproprotein	1627	Extracellular (Potential).|4.|4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.169)												OREG0014998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture+wgs		Missense_Mutation	SNP	136555694	136555694	9017	2	C	A	A	18	18	LCT	A	2	2
THSD7B	80731	broad.mit.edu	37	2	137814061	137814061	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:137814061G>C	uc002tva.1	+	2	118	c.118G>C	c.(118-120)GTT>CTT	p.V40L	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_5'UTR	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	137814061	137814061	16408	2	G	C	C	48	48	THSD7B	C	3	3
THSD7B	80731	broad.mit.edu	37	2	137852667	137852667	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:137852667G>T	uc002tva.1	+	3	1082	c.1082G>T	c.(1081-1083)GGA>GTA	p.G361V	THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.G251V	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	137852667	137852667	16408	2	G	T	T	41	41	THSD7B	T	2	2
THSD7B	80731	broad.mit.edu	37	2	137917791	137917791	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:137917791C>A	uc002tva.1	+	5	1285	c.1285C>A	c.(1285-1287)CCT>ACT	p.P429T	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Missense_Mutation_p.P319T	NM_001080427	NP_001073896			thrombospondin, type I, domain containing 7B											ovary(4)|central_nervous_system(2)|pancreas(1)	7				BRCA - Breast invasive adenocarcinoma(221;0.19)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	137917791	137917791	16408	2	C	A	A	18	18	THSD7B	A	2	2
SCN3A	6328	broad.mit.edu	37	2	165952979	165952979	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:165952979C>G	uc002ucx.2	-	24	4783	c.4291G>C	c.(4291-4293)GAT>CAT	p.D1431H	SCN3A_uc010zcy.1_5'Flank|SCN3A_uc002ucy.2_Missense_Mutation_p.D1382H|SCN3A_uc002ucz.2_Missense_Mutation_p.D1382H	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha	1431						voltage-gated sodium channel complex	voltage-gated sodium channel activity			ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10					Lamotrigine(DB00555)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	165952979	165952979	14400	2	C	G	G	32	32	SCN3A	G	3	3
TLK1	9874	broad.mit.edu	37	2	171902795	171902795	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:171902795G>C	uc002ugn.2	-	11	1530	c.1058C>G	c.(1057-1059)ACA>AGA	p.T353R	TLK1_uc002ugo.2_Missense_Mutation_p.T374R|TLK1_uc002ugp.2_Missense_Mutation_p.T305R|TLK1_uc002ugq.2_RNA|TLK1_uc010zdn.1_Missense_Mutation_p.T257R|TLK1_uc002ugr.1_Missense_Mutation_p.T136R	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1 isoform 1	353					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	171902795	171902795	16473	2	G	C	C	48	48	TLK1	C	3	3
TTN	7273	broad.mit.edu	37	2	179436183	179436183	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179436183A>T	uc010zfg.1	-	275	67196	c.66972T>A	c.(66970-66972)AGT>AGA	p.S22324R	uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S16019R|TTN_uc010zfi.1_Missense_Mutation_p.S15952R|TTN_uc010zfj.1_Missense_Mutation_p.S15827R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	23251							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+wgs		Missense_Mutation	SNP	179436183	179436183	17290	2	A	T	T	14	14	TTN	T	4	4
TTN	7273	broad.mit.edu	37	2	179516472	179516472	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179516472G>T	uc010zfg.1	-	160	32306	c.32082C>A	c.(32080-32082)ACC>ACA	p.T10694T	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	11621							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+wgs		Silent	SNP	179516472	179516472	17290	2	G	T	T	39	39	TTN	T	1	1
TTN	7273	broad.mit.edu	37	2	179597774	179597774	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179597774C>A	uc010zfg.1	-	52	12621	c.12397G>T	c.(12397-12399)GAC>TAC	p.D4133Y	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D794Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	5060							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+wgs		Missense_Mutation	SNP	179597774	179597774	17290	2	C	A	A	30	30	TTN	A	2	2
TTN	7273	broad.mit.edu	37	2	179616631	179616631	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179616631G>T	uc002unb.2	-	46	10720	c.10496C>A	c.(10495-10497)CCT>CAT	p.P3499H	TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	titin isoform novex-3	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment							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	179616631	179616631	17290	2	G	T	T	35	35	TTN	T	2	2
TTN	7273	broad.mit.edu	37	2	179664332	179664332	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:179664332G>T	uc002und.2	-	6	1021	c.796C>A	c.(796-798)CCA>ACA	p.P266T	TTN_uc010zfg.1_Missense_Mutation_p.P266T|TTN_uc010zfh.1_Missense_Mutation_p.P266T|TTN_uc010zfi.1_Missense_Mutation_p.P266T|TTN_uc010zfj.1_Missense_Mutation_p.P266T|TTN_uc002unb.2_Missense_Mutation_p.P266T			Q8WZ42	TITIN_HUMAN	Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.	266							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	179664332	179664332	17290	2	G	T	T	43	43	TTN	T	2	2
CFLAR	8837	broad.mit.edu	37	2	202025610	202025610	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:202025610C>A	uc002uxb.3	+	9	1701	c.1249C>A	c.(1249-1251)CAC>AAC	p.H417N	CFLAR_uc010zhk.1_Missense_Mutation_p.H321N|CFLAR_uc002uxc.3_Missense_Mutation_p.H382N|CFLAR_uc010zhl.1_Missense_Mutation_p.H321N|CFLAR_uc010fsw.1_RNA|CFLAR_uc002uxd.3_Missense_Mutation_p.H417N|CFLAR_uc002uxf.2_Missense_Mutation_p.H417N|CFLAR_uc010fsy.2_RNA|CFLAR_uc010fsx.2_Intron|CFLAR_uc010zhm.1_Missense_Mutation_p.H321N|CFLAR_uc010fsz.2_Missense_Mutation_p.H172N|CFLAR_uc002uxg.2_Missense_Mutation_p.H172N	NM_003879	NP_003870	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator isoform	417	Interaction with caspase-8.|Interaction with caspase-3.|Interaction with TRAF1 and TRAF2.|Not proteolytically processed and involved in apoptosis inhibition.|Interaction with caspase-8 subunits p18 and p10.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	202025610	202025610	3425	2	C	A	A	29	29	CFLAR	A	2	2
PARD3B	117583	broad.mit.edu	37	2	206480355	206480355	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:206480355C>A	uc002var.1	+	23	3643	c.3436C>A	c.(3436-3438)CCG>ACG	p.P1146T	PARD3B_uc002vao.1_Missense_Mutation_p.P1045T|PARD3B_uc002vap.1_Missense_Mutation_p.P1084T|PARD3B_uc002vaq.1_Missense_Mutation_p.P1077T|uc010fuc.1_5'Flank	NM_152526	NP_689739	Q8TEW8	PAR3L_HUMAN	par-3 partitioning defective 3 homolog B isoform	1146	Poly-Pro.				cell cycle|cell division	endomembrane system|tight junction				skin(2)|ovary(1)|breast(1)	4		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)														---	---	---	---	capture		Missense_Mutation	SNP	206480355	206480355	11861	2	C	A	A	22	22	PARD3B	A	2	2
PIKFYVE	200576	broad.mit.edu	37	2	209136333	209136333	+	Silent	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:209136333T>C	uc002vcz.2	+	2	248	c.90T>C	c.(88-90)TTT>TTC	p.F30F	PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Silent_p.F30F|PIKFYVE_uc002vcv.2_Silent_p.F30F|PIKFYVE_uc002vcw.2_Silent_p.F30F|PIKFYVE_uc002vcx.2_Silent_p.F30F	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	phosphatidylinositol-3-phosphate 5-kinase type	30					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10																		---	---	---	---	capture+wgs		Silent	SNP	209136333	209136333	12348	2	T	C	C	61	61	PIKFYVE	C	4	4
CHPF	79586	broad.mit.edu	37	2	220404600	220404600	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220404600G>A	uc002vmc.3	-	4	2060	c.1833C>T	c.(1831-1833)TTC>TTT	p.F611F	CHPF_uc010zlh.1_Silent_p.F449F	NM_024536	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	611	Lumenal (Potential).					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding				0		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)														---	---	---	---	capture+wgs		Silent	SNP	220404600	220404600	3502	2	G	A	A	41	41	CHPF	A	2	2
PAX3	5077	broad.mit.edu	37	2	223096991	223096991	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:223096991G>T	uc010fwo.2	-	5	964	c.598C>A	c.(598-600)CAA>AAA	p.Q200K	PAX3_uc002vmt.1_Missense_Mutation_p.Q200K|PAX3_uc002vmy.1_Missense_Mutation_p.Q199K|PAX3_uc002vmv.1_Missense_Mutation_p.Q200K|PAX3_uc002vmw.1_Missense_Mutation_p.Q200K|PAX3_uc002vmx.1_Missense_Mutation_p.Q200K	NM_181457	NP_852122	P23760	PAX3_HUMAN	paired box 3 isoform PAX3	200					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	soft_tissue(761)|ovary(4)|skin(1)	766		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)				T	FOXO1A|NCOA1	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						---	---	---	---	capture		Missense_Mutation	SNP	223096991	223096991	11900	2	G	T	T	47	47	PAX3	T	2	2
NDUFA10	4705	broad.mit.edu	37	2	240960628	240960628	+	Missense_Mutation	SNP	T	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:240960628T>G	uc002vyn.2	-	3	526	c.446A>C	c.(445-447)CAC>CCC	p.H149P	NDUFA10_uc010fzc.1_Missense_Mutation_p.H149P|NDUFA10_uc002vyo.1_Missense_Mutation_p.H149P|NDUFA10_uc002vyp.2_Missense_Mutation_p.H149P	NM_004544	NP_004535	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha	149					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)	1		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture+wgs		Missense_Mutation	SNP	240960628	240960628	10659	2	T	G	G	59	59	NDUFA10	G	4	4
HAO1	54363	broad.mit.edu	37	20	7915149	7915149	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:7915149C>T	uc002wmw.1	-	2	295	c.271G>A	c.(271-273)GAG>AAG	p.E91K	HAO1_uc010gbu.2_Missense_Mutation_p.E91K	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase 1	91	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			ovary(3)	3																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	7915149	7915149	7233	20	C	T	T	31	31	HAO1	T	1	1
TM9SF4	9777	broad.mit.edu	37	20	30745599	30745599	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:30745599G>A	uc002wxj.2	+	14	1567	c.1332G>A	c.(1330-1332)GTG>GTA	p.V444V	TM9SF4_uc010zts.1_Silent_p.V351V|TM9SF4_uc002wxk.2_Silent_p.V427V|TM9SF4_uc010gdz.2_Silent_p.V323V	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	444						integral to membrane				central_nervous_system(1)|pancreas(1)	2			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)															---	---	---	---	capture+wgs		Silent	SNP	30745599	30745599	16510	20	G	A	A	46	46	TM9SF4	A	2	2
C20orf4	25980	broad.mit.edu	37	20	34828318	34828318	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:34828318G>C	uc002xfc.1	+	2	621	c.528G>C	c.(526-528)CAG>CAC	p.Q176H	C20orf4_uc002xfd.1_Missense_Mutation_p.Q176H|C20orf4_uc002xfe.1_Missense_Mutation_p.Q176H	NM_015511	NP_056326	Q9Y312	CT004_HUMAN	hypothetical protein LOC25980	176											0	Breast(12;0.0162)	Myeloproliferative disorder(115;0.0393)																---	---	---	---	capture+wgs		Missense_Mutation	SNP	34828318	34828318	2191	20	G	C	C	33	33	C20orf4	C	3	3
CDH22	64405	broad.mit.edu	37	20	44815288	44815288	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:44815288G>C	uc002xrm.2	-	9	2003	c.1602C>G	c.(1600-1602)TTC>TTG	p.F534L	CDH22_uc010ghk.1_Missense_Mutation_p.F534L	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	cadherin 22 precursor	534	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(4)|skin(1)	5		Myeloproliferative disorder(115;0.0122)																---	---	---	---	capture+wgs		Missense_Mutation	SNP	44815288	44815288	3236	20	G	C	C	33	33	CDH22	C	3	3
BCAS1	8537	broad.mit.edu	37	20	52645430	52645430	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:52645430G>T	uc002xws.2	-	4	562	c.224C>A	c.(223-225)GCC>GAC	p.A75D	BCAS1_uc010zzb.1_5'UTR|BCAS1_uc010gim.2_5'UTR|BCAS1_uc002xwt.2_Missense_Mutation_p.A75D|BCAS1_uc010gil.1_Missense_Mutation_p.A75D|BCAS1_uc010zzc.1_5'UTR	NM_003657	NP_003648	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	75						cytoplasm	protein binding			ovary(2)|central_nervous_system(1)	3	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	52645430	52645430	1371	20	G	T	T	42	42	BCAS1	T	2	2
AURKA	6790	broad.mit.edu	37	20	54948492	54948492	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:54948492C>A	uc002xxd.1	-	9	1392	c.826G>T	c.(826-828)GGG>TGG	p.G276W	AURKA_uc002xxe.1_Missense_Mutation_p.G276W|AURKA_uc002xxf.1_Missense_Mutation_p.G276W|AURKA_uc002xxg.1_Missense_Mutation_p.G276W|AURKA_uc002xxh.1_Missense_Mutation_p.G276W|AURKA_uc002xxi.1_Missense_Mutation_p.G276W|AURKA_uc002xxj.1_Missense_Mutation_p.G276W|AURKA_uc002xxk.1_Missense_Mutation_p.G276W|AURKA_uc010zzd.1_RNA	NM_198433	NP_940835	O14965	AURKA_HUMAN	serine/threonine protein kinase 6	276	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1)	8			Colorectal(105;0.202)															---	---	---	---	capture		Missense_Mutation	SNP	54948492	54948492	1242	20	C	A	A	21	21	AURKA	A	2	2
NCAM2	4685	broad.mit.edu	37	21	22910240	22910240	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:22910240G>T	uc002yld.1	+	18	2725	c.2476G>T	c.(2476-2478)GAC>TAC	p.D826Y	NCAM2_uc011acb.1_Missense_Mutation_p.D684Y	NM_004540	NP_004531	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2 precursor	826	Cytoplasmic (Potential).				neuron cell-cell adhesion	integral to membrane|plasma membrane				ovary(4)	4		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	22910240	22910240	10602	21	G	T	T	37	37	NCAM2	T	1	1
USP16	10600	broad.mit.edu	37	21	30402983	30402983	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:30402983G>T	uc002ymy.2	+	3	331	c.129G>T	c.(127-129)GTG>GTT	p.V43V	USP16_uc002ymx.2_Silent_p.V43V|USP16_uc002ymw.2_Silent_p.V43V|USP16_uc011acm.1_Silent_p.V29V|USP16_uc011acn.1_Intron	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	ubiquitin specific protease 16 isoform a	43					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(2)|breast(1)|pancreas(1)	4																		---	---	---	---	capture		Silent	SNP	30402983	30402983	17609	21	G	T	T	47	47	USP16	T	2	2
DSCR3	10311	broad.mit.edu	37	21	38610812	38610812	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:38610812C>A	uc002ywf.1	-	4	539	c.300G>T	c.(298-300)AAG>AAT	p.K100N	DSCR3_uc010gnm.1_RNA|DSCR3_uc010gnn.1_Missense_Mutation_p.K58N|DSCR3_uc010gnl.2_Missense_Mutation_p.K100N|DSCR3_uc011aeg.1_Intron|DSCR3_uc011aeh.1_Intron	NM_006052	NP_006043	O14972	DSCR3_HUMAN	Down syndrome critical region protein 3	100					vacuolar transport	nucleus|retromer complex					0																		---	---	---	---	capture		Missense_Mutation	SNP	38610812	38610812	4955	21	C	A	A	24	24	DSCR3	A	2	2
TRPM2	7226	broad.mit.edu	37	21	45795818	45795818	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:45795818C>A	uc002zet.1	+	7	1087	c.874C>A	c.(874-876)CAC>AAC	p.H292N	TRPM2_uc002zeu.1_Missense_Mutation_p.H292N|TRPM2_uc002zew.1_Missense_Mutation_p.H292N|TRPM2_uc010gpt.1_Missense_Mutation_p.H292N|TRPM2_uc002zex.1_Missense_Mutation_p.H78N	NM_003307	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel,	292	Cytoplasmic (Potential).					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			ovary(1)|central_nervous_system(1)|pancreas(1)	3																		---	---	---	---	capture		Missense_Mutation	SNP	45795818	45795818	17137	21	C	A	A	21	21	TRPM2	A	2	2
DIP2A	23181	broad.mit.edu	37	21	47985788	47985788	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:47985788G>A	uc002zjo.2	+	36	4510	c.4327G>A	c.(4327-4329)GAT>AAT	p.D1443N	DIP2A_uc011afz.1_Missense_Mutation_p.D1439N|DIP2A_uc002zjs.2_Missense_Mutation_p.D123N|DIP2A_uc002zjt.2_RNA	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	disco-interacting protein 2A isoform a	1443					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			ovary(2)	2	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	47985788	47985788	4706	21	G	A	A	45	45	DIP2A	A	2	2
PRMT2	3275	broad.mit.edu	37	21	48069603	48069603	+	Silent	SNP	C	A	A	rs148075005	byFrequency	TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr21:48069603C>A	uc002zjx.2	+	7	920	c.606C>A	c.(604-606)CCC>CCA	p.P202P	PRMT2_uc002zjw.2_Silent_p.P202P|PRMT2_uc002zjy.2_Silent_p.P202P|PRMT2_uc010gqm.2_Silent_p.P202P|PRMT2_uc011aga.1_Silent_p.P202P|PRMT2_uc011agb.1_Silent_p.P202P|PRMT2_uc011agc.1_Silent_p.P202P|PRMT2_uc002zjz.1_Silent_p.P88P	NM_206962	NP_996845	P55345	ANM2_HUMAN	HMT1 hnRNP methyltransferase-like 1	202	Interaction with RB1 (By similarity).|Interaction with ESR1.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			ovary(1)	1	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)														---	---	---	---	capture		Silent	SNP	48069603	48069603	12980	21	C	A	A	23	23	PRMT2	A	1	1
TXNRD2	10587	broad.mit.edu	37	22	19865933	19865933	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:19865933C>A	uc011ahc.1	-	15	1336	c.1303G>T	c.(1303-1305)GAG>TAG	p.E435*	TXNRD2_uc002zql.1_Nonsense_Mutation_p.E189*|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Nonsense_Mutation_p.E434*|TXNRD2_uc002zqj.1_RNA|TXNRD2_uc002zqq.1_Nonsense_Mutation_p.E85*	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	435					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)																	---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	19865933	19865933	17364	22	C	A	A	30	30	TXNRD2	A	5	2
PI4KA	5297	broad.mit.edu	37	22	21119167	21119167	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:21119167G>C	uc002zsz.3	-	22	2703	c.2472C>G	c.(2470-2472)ATC>ATG	p.I824M		NM_058004	NP_477352	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase type 3 alpha	824					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|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;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	21119167	21119167	12297	22	G	C	C	45	45	PI4KA	C	3	3
KREMEN1	83999	broad.mit.edu	37	22	29533453	29533453	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:29533453C>T	uc011akm.1	+	6	768	c.755C>T	c.(754-756)TCC>TTC	p.S252F	KREMEN1_uc003ael.2_Missense_Mutation_p.S252F|KREMEN1_uc011akn.1_Missense_Mutation_p.S135F	NM_032045	NP_114434	Q96MU8	KREM1_HUMAN	kringle-containing transmembrane protein 1	250	Extracellular (Potential).|CUB.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			ovary(3)|lung(2)	5																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	29533453	29533453	8757	22	C	T	T	30	30	KREMEN1	T	2	2
SMCR7L	54471	broad.mit.edu	37	22	39908032	39908032	+	Splice_Site	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:39908032G>A	uc003axx.2	+	4	820	c.322_splice	c.e4+1	p.D108_splice	SMCR7L_uc003axw.2_Splice_Site_p.D108_splice|SMCR7L_uc010gxz.1_Splice_Site|SMCR7L_uc003axy.2_Splice_Site	NM_019008	NP_061881			hypothetical protein LOC54471							integral to membrane|mitochondrion				central_nervous_system(1)	1	Melanoma(58;0.04)																	---	---	---	---	capture+wgs		Splice_Site	SNP	39908032	39908032	15289	22	G	A	A	44	44	SMCR7L	A	5	2
MEI1	150365	broad.mit.edu	37	22	42099442	42099442	+	Silent	SNP	C	T	T	rs147144334	by1000genomes	TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:42099442C>T	uc003baz.1	+	2	307	c.282C>T	c.(280-282)TTC>TTT	p.F94F	MEI1_uc003bay.3_Silent_p.F94F|MEI1_uc011apd.1_RNA	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	meiosis defective 1	94							binding			central_nervous_system(1)|skin(1)	2																		---	---	---	---	capture+wgs		Silent	SNP	42099442	42099442	9854	22	C	T	T	29	29	MEI1	T	2	2
GTSE1	51512	broad.mit.edu	37	22	46712117	46712117	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:46712117C>A	uc011aqy.1	+	7	1452	c.1240C>A	c.(1240-1242)CCC>ACC	p.P414T	GTSE1_uc011aqz.1_Missense_Mutation_p.P261T|GTSE1_uc003bhl.1_Missense_Mutation_p.P39T|GTSE1_uc003bhm.1_Missense_Mutation_p.P39T	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	395					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				ovary(1)	1		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)														---	---	---	---	capture		Missense_Mutation	SNP	46712117	46712117	7165	22	C	A	A	22	22	GTSE1	A	2	2
BTD	686	broad.mit.edu	37	3	15643402	15643402	+	Splice_Site	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:15643402G>A	uc003cah.2	+	1	147	c.44_splice	c.e1+1	p.R15_splice	HACL1_uc011avr.1_5'Flank|HACL1_uc011avs.1_5'Flank|HACL1_uc011avt.1_5'Flank|HACL1_uc003cag.2_5'Flank|HACL1_uc011avu.1_5'Flank|HACL1_uc010hep.2_5'Flank|HACL1_uc003caf.2_5'Flank|BTD_uc011avv.1_Intron|BTD_uc011avw.1_Splice_Site|BTD_uc011avx.1_5'Flank	NM_000060	NP_000051			biotinidase precursor						central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity				0																		---	---	---	---	capture		Splice_Site	SNP	15643402	15643402	1584	3	G	A	A	44	44	BTD	A	5	2
EOMES	8320	broad.mit.edu	37	3	27760928	27760928	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:27760928G>T	uc003cdx.2	-	3	1081	c.1081C>A	c.(1081-1083)CAC>AAC	p.H361N	EOMES_uc003cdy.3_Missense_Mutation_p.H361N|EOMES_uc010hfn.2_Missense_Mutation_p.H361N|EOMES_uc011axc.1_Missense_Mutation_p.H66N	NM_005442	NP_005433	O95936	EOMES_HUMAN	eomesodermin	361	T-box.				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			ovary(3)|breast(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	27760928	27760928	5340	3	G	T	T	47	47	EOMES	T	2	2
SCN10A	6336	broad.mit.edu	37	3	38798202	38798202	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38798202A>T	uc003ciq.2	-	9	1253	c.1253T>A	c.(1252-1254)TTC>TAC	p.F418Y		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	418					sensory perception	voltage-gated sodium channel complex				ovary(5)|skin(3)|large_intestine(1)|kidney(1)	10				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	38798202	38798202	14394	3	A	T	T	9	9	SCN10A	T	4	4
ZNF197	10168	broad.mit.edu	37	3	44684840	44684840	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:44684840G>T	uc003cnm.2	+	6	2424	c.2218G>T	c.(2218-2220)GGG>TGG	p.G740W	ZNF197_uc003cnn.2_Intron|ZNF197_uc003cno.2_Intron|ZNF197_uc003cnp.2_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	zinc finger protein 197 isoform 1	740	C2H2-type 14.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(3)|skin(1)	4				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)														---	---	---	---	capture		Missense_Mutation	SNP	44684840	44684840	18350	3	G	T	T	47	47	ZNF197	T	2	2
XCR1	2829	broad.mit.edu	37	3	46063247	46063247	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:46063247G>A	uc003cpe.2	-	3	417	c.193C>T	c.(193-195)CTC>TTC	p.L65F	uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.L65F	NM_005283	NP_005274	P46094	XCR1_HUMAN	XC chemokine receptor 1	65	Cytoplasmic (Potential).				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	46063247	46063247	18006	3	G	A	A	35	35	XCR1	A	2	2
CELSR3	1951	broad.mit.edu	37	3	48677858	48677858	+	Missense_Mutation	SNP	C	A	A	rs150459522		TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:48677858C>A	uc003cul.2	-	34	9441	c.9160G>T	c.(9160-9162)GGG>TGG	p.G3054W	CELSR3_uc003cuf.1_Missense_Mutation_p.G3152W|CELSR3_uc010hkf.2_Missense_Mutation_p.G344W|CELSR3_uc010hkg.2_Missense_Mutation_p.G1037W	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	3054	Cytoplasmic (Potential).				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)														---	---	---	---	capture		Missense_Mutation	SNP	48677858	48677858	3356	3	C	A	A	23	23	CELSR3	A	1	1
ADAMTS9	56999	broad.mit.edu	37	3	64589627	64589627	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:64589627C>A	uc003dmg.2	-	25	3750	c.3718G>T	c.(3718-3720)GGG>TGG	p.G1240W	ADAMTS9_uc011bfo.1_Missense_Mutation_p.G1212W|ADAMTS9_uc003dmh.1_Missense_Mutation_p.G1069W|ADAMTS9_uc011bfp.1_Missense_Mutation_p.G151W	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1	1240	TSP type-1 7.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			ovary(2)|urinary_tract(1)|skin(1)	4		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)														---	---	---	---	capture		Missense_Mutation	SNP	64589627	64589627	274	3	C	A	A	21	21	ADAMTS9	A	2	2
MAGI1	9223	broad.mit.edu	37	3	65342290	65342290	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:65342290G>T	uc003dmn.2	-	23	4678	c.4152C>A	c.(4150-4152)CCC>CCA	p.P1384P	MAGI1_uc003dmm.2_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ	1413					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1)	6		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)														---	---	---	---	capture		Silent	SNP	65342290	65342290	9573	3	G	T	T	39	39	MAGI1	T	1	1
EPHA3	2042	broad.mit.edu	37	3	89528545	89528545	+	Splice_Site	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:89528545A>T	uc003dqy.2	+	17	3072	c.2847_splice	c.e17-2	p.D949_splice	EPHA3_uc010hon.1_Splice_Site	NM_005233	NP_005224			ephrin receptor EphA3 isoform a precursor							extracellular region|integral to plasma membrane	ATP binding			lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)											TSP Lung(6;0.00050)			---	---	---	---	capture+wgs		Splice_Site	SNP	89528545	89528545	5361	3	A	T	T	7	7	EPHA3	T	5	4
DZIP3	9666	broad.mit.edu	37	3	108363257	108363257	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:108363257A>T	uc003dxd.2	+	14	1810	c.1388A>T	c.(1387-1389)AAA>ATA	p.K463I	DZIP3_uc003dxf.1_Missense_Mutation_p.K463I|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Missense_Mutation_p.K463I|DZIP3_uc003dxg.1_Missense_Mutation_p.K186I	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	DAZ interacting protein 3, zinc finger	463					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	108363257	108363257	5051	3	A	T	T	1	1	DZIP3	T	4	4
FSTL1	11167	broad.mit.edu	37	3	120121721	120121721	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:120121721C>A	uc003eds.2	-	9	914	c.739G>T	c.(739-741)GAG>TAG	p.E247*	FSTL1_uc011bjh.1_Nonsense_Mutation_p.E212*	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	follistatin-like 1 precursor	247	VWFC.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)	1				GBM - Glioblastoma multiforme(114;0.189)														---	---	---	---	capture		Nonsense_Mutation	SNP	120121721	120121721	6328	3	C	A	A	31	31	FSTL1	A	5	1
KALRN	8997	broad.mit.edu	37	3	124431836	124431836	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124431836G>T	uc003ehg.2	+	58	8257	c.8130G>T	c.(8128-8130)GTG>GTT	p.V2710V	KALRN_uc003ehk.2_Silent_p.V1013V	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase isoform 1	2709	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6																		---	---	---	---	capture+wgs		Silent	SNP	124431836	124431836	8279	3	G	T	T	47	47	KALRN	T	2	2
HEG1	57493	broad.mit.edu	37	3	124724179	124724179	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:124724179C>G	uc003ehs.3	-	9	3295	c.3227G>C	c.(3226-3228)AGA>ACA	p.R1076T	HEG1_uc011bke.1_Missense_Mutation_p.R1176T	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	HEG homolog 1 precursor	1076	Extracellular (Potential).					extracellular region|integral to membrane	calcium ion binding			ovary(2)	2																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	124724179	124724179	7327	3	C	G	G	32	32	HEG1	G	3	3
ROPN1B	152015	broad.mit.edu	37	3	125702137	125702137	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:125702137C>A	uc003eih.2	+	6	841	c.613C>A	c.(613-615)CAA>AAA	p.Q205K	ROPN1B_uc010hsb.2_Missense_Mutation_p.Q205K|ROPN1B_uc010hsc.2_Missense_Mutation_p.Q113K	NM_001012337	NP_001012337	Q9BZX4	ROP1B_HUMAN	ropporin, rhophilin associated protein 1B	205					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity				0				GBM - Glioblastoma multiforme(114;0.151)														---	---	---	---	capture		Missense_Mutation	SNP	125702137	125702137	14003	3	C	A	A	21	21	ROPN1B	A	2	2
TMCC1	23023	broad.mit.edu	37	3	129389574	129389574	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:129389574T>A	uc003emz.3	-	5	1611	c.1110A>T	c.(1108-1110)AGA>AGT	p.R370S	TMCC1_uc003emy.3_Missense_Mutation_p.R46S|TMCC1_uc011blc.1_Missense_Mutation_p.R191S|TMCC1_uc010htg.2_Missense_Mutation_p.R256S	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	370						integral to membrane				skin(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	129389574	129389574	16522	3	T	A	A	54	54	TMCC1	A	4	4
COL6A6	131873	broad.mit.edu	37	3	130287403	130287403	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130287403C>A	uc010htl.2	+	5	2387	c.2356C>A	c.(2356-2358)CGC>AGC	p.R786S		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	collagen type VI alpha 6 precursor	786	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				ovary(6)|central_nervous_system(1)|pancreas(1)	8																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	130287403	130287403	3841	3	C	A	A	27	27	COL6A6	A	1	1
PIK3R4	30849	broad.mit.edu	37	3	130452690	130452690	+	Silent	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130452690G>C	uc003enj.2	-	4	1733	c.1152C>G	c.(1150-1152)TCC>TCG	p.S384S		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	384					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			ovary(3)|lung(2)|breast(2)|skin(2)|stomach(1)|central_nervous_system(1)|kidney(1)	12																		---	---	---	---	capture+wgs		Silent	SNP	130452690	130452690	12345	3	G	C	C	35	35	PIK3R4	C	3	3
ATP2C1	27032	broad.mit.edu	37	3	130715610	130715610	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:130715610A>G	uc003enl.2	+	24	2435	c.2213A>G	c.(2212-2214)AAT>AGT	p.N738S	ATP2C1_uc011blg.1_Missense_Mutation_p.N772S|ATP2C1_uc011blh.1_Missense_Mutation_p.N733S|ATP2C1_uc011bli.1_Missense_Mutation_p.N772S|ATP2C1_uc003enk.2_Missense_Mutation_p.N722S|ATP2C1_uc003enm.2_Missense_Mutation_p.N738S|ATP2C1_uc003enn.2_Missense_Mutation_p.N722S|ATP2C1_uc003eno.2_Missense_Mutation_p.N738S|ATP2C1_uc003enp.2_Missense_Mutation_p.N738S|ATP2C1_uc003enq.2_Missense_Mutation_p.N738S|ATP2C1_uc003enr.2_Missense_Mutation_p.N738S|ATP2C1_uc003ens.2_Missense_Mutation_p.N738S|ATP2C1_uc003ent.2_Missense_Mutation_p.N738S|ATP2C1_uc003enu.2_Missense_Mutation_p.N416S	NM_014382	NP_055197	P98194	AT2C1_HUMAN	calcium-transporting ATPase 2C1 isoform 1a	738	Helical; Name=6; (By similarity).	Calcium 2 (By similarity).			actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			skin(1)	1					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)									Hailey-Hailey_disease				---	---	---	---	capture+wgs		Missense_Mutation	SNP	130715610	130715610	1162	3	A	G	G	4	4	ATP2C1	G	4	4
TOPBP1	11073	broad.mit.edu	37	3	133327499	133327499	+	Silent	SNP	T	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:133327499T>A	uc003eps.2	-	27	4437	c.4305A>T	c.(4303-4305)ACA>ACT	p.T1435T		NM_007027	NP_008958	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1435	BRCT 8.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1)	7													Other_conserved_DNA_damage_response_genes					---	---	---	---	capture+wgs		Silent	SNP	133327499	133327499	16911	3	T	A	A	59	59	TOPBP1	A	4	4
KY	339855	broad.mit.edu	37	3	134339655	134339655	+	Silent	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:134339655G>C	uc010hty.2	-	7	590	c.528C>G	c.(526-528)CTC>CTG	p.L176L	KY_uc011blw.1_Silent_p.L176L|KY_uc011blx.1_Silent_p.L155L|KY_uc003eqr.1_5'UTR	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	176						cytoskeleton|Z disc	peptidase activity			ovary(2)	2																		---	---	---	---	capture+wgs		Silent	SNP	134339655	134339655	8909	3	G	C	C	41	41	KY	C	3	3
STAG1	10274	broad.mit.edu	37	3	136068095	136068095	+	Missense_Mutation	SNP	T	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136068095T>G	uc003era.1	-	29	3468	c.3176A>C	c.(3175-3177)GAT>GCT	p.D1059A	STAG1_uc003erb.1_Missense_Mutation_p.D1059A	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1059					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			ovary(2)	2																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	136068095	136068095	15760	3	T	G	G	50	50	STAG1	G	4	4
TMEM22	80723	broad.mit.edu	37	3	136573495	136573495	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:136573495G>A	uc003erf.3	+	2	407	c.193G>A	c.(193-195)GGG>AGG	p.G65R	TMEM22_uc003erg.3_Missense_Mutation_p.G65R|TMEM22_uc010hub.2_Missense_Mutation_p.G65R	NM_001097600	NP_001091069	Q8TBE7	TMM22_HUMAN	transmembrane protein 22	65						Golgi apparatus|integral to membrane				ovary(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	136573495	136573495	16679	3	G	A	A	35	35	TMEM22	A	2	2
ZIC1	7545	broad.mit.edu	37	3	147130317	147130317	+	Missense_Mutation	SNP	T	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:147130317T>G	uc003ewe.2	+	2	1714	c.995T>G	c.(994-996)TTC>TGC	p.F332C		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	zinc finger protein of the cerebellum 1	332	C2H2-type 4.				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	147130317	147130317	18269	3	T	G	G	62	62	ZIC1	G	4	4
SGEF	26084	broad.mit.edu	37	3	153909148	153909148	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:153909148A>G	uc011bog.1	+	8	1922	c.1711A>G	c.(1711-1713)ATG>GTG	p.M571V	SGEF_uc011boh.1_Missense_Mutation_p.M571V	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	Src homology 3 domain-containing guanine	571	DH.				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity			large_intestine(1)	1			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	153909148	153909148	14696	3	A	G	G	8	8	SGEF	G	4	4
GPR149	344758	broad.mit.edu	37	3	154139080	154139080	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154139080G>T	uc003faa.2	-	3	1471	c.1371C>A	c.(1369-1371)AGC>AGA	p.S457R		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	457	Cytoplasmic (Potential).					integral to membrane|plasma membrane	G-protein coupled receptor activity			ovary(6)	6			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	154139080	154139080	6929	3	G	T	T	46	46	GPR149	T	2	2
MME	4311	broad.mit.edu	37	3	154859822	154859822	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:154859822G>T	uc010hvr.1	+	11	1211	c.1000G>T	c.(1000-1002)GTG>TTG	p.V334L	MME_uc003fab.1_Missense_Mutation_p.V334L|MME_uc003fac.1_Missense_Mutation_p.V334L|MME_uc003fad.1_Missense_Mutation_p.V334L|MME_uc003fae.1_Missense_Mutation_p.V334L	NM_007289	NP_009220	P08473	NEP_HUMAN	membrane metallo-endopeptidase	334	Extracellular (Potential).				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			ovary(2)|central_nervous_system(1)	3		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	154859822	154859822	10035	3	G	T	T	48	48	MME	T	2	2
MFSD1	64747	broad.mit.edu	37	3	158541245	158541245	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:158541245T>C	uc003fcl.1	+	12	1136	c.1106T>C	c.(1105-1107)CTT>CCT	p.L369P	MFSD1_uc003fcm.1_RNA|MFSD1_uc003fcn.1_Missense_Mutation_p.L272P|MFSD1_uc011bow.1_Missense_Mutation_p.L330P|MFSD1_uc011box.1_Missense_Mutation_p.L296P	NM_022736	NP_073573	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing	369	Helical; (Potential).				transmembrane transport	integral to membrane					0			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	158541245	158541245	9917	3	T	C	C	56	56	MFSD1	C	4	4
SI	6476	broad.mit.edu	37	3	164750383	164750383	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:164750383G>T	uc003fei.2	-	24	2725	c.2663C>A	c.(2662-2664)ACA>AAA	p.T888K		NM_001041	NP_001032	P14410	SUIS_HUMAN	sucrase-isomaltase	888	Lumenal.|Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1)	14		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)										HNSCC(35;0.089)			---	---	---	---	capture+wgs		Missense_Mutation	SNP	164750383	164750383	14792	3	G	T	T	48	48	SI	T	2	2
USP13	8975	broad.mit.edu	37	3	179501871	179501871	+	Nonsense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:179501871C>G	uc003fkh.2	+	21	2615	c.2534C>G	c.(2533-2535)TCA>TGA	p.S845*		NM_003940	NP_003931	Q92995	UBP13_HUMAN	ubiquitin thiolesterase 13	845					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			ovary(1)	1	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)															---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	179501871	179501871	17606	3	C	G	G	29	29	USP13	G	5	3
KNG1	3827	broad.mit.edu	37	3	186445035	186445035	+	Nonsense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186445035G>T	uc011bsa.1	+	5	786	c.574G>T	c.(574-576)GGA>TGA	p.G192*	KNG1_uc003fqr.2_Nonsense_Mutation_p.G192*	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	kininogen 1 isoform 1	192	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			skin(1)	1	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)													---	---	---	---	capture		Nonsense_Mutation	SNP	186445035	186445035	8741	3	G	T	T	47	47	KNG1	T	5	2
MASP1	5648	broad.mit.edu	37	3	186943227	186943227	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:186943227G>T	uc003frh.1	-	13	1958	c.1626C>A	c.(1624-1626)CCC>CCA	p.P542P		NM_001879	NP_001870	P48740	MASP1_HUMAN	mannan-binding lectin serine protease 1 isoform	542	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			ovary(2)|breast(1)|liver(1)	4	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)														---	---	---	---	capture		Silent	SNP	186943227	186943227	9706	3	G	T	T	43	43	MASP1	T	2	2
ATP13A5	344905	broad.mit.edu	37	3	193082000	193082000	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:193082000C>A	uc011bsq.1	-	2	133	c.133G>T	c.(133-135)GGG>TGG	p.G45W		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	ATPase type 13A5	45	Helical; (Potential).				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			ovary(5)|skin(4)|large_intestine(2)	11	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)														---	---	---	---	capture		Missense_Mutation	SNP	193082000	193082000	1146	3	C	A	A	21	21	ATP13A5	A	2	2
MUC4	4585	broad.mit.edu	37	3	195475780	195475780	+	Missense_Mutation	SNP	G	T	T	rs141128323		TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:195475780G>T	uc011bto.1	-	25	16103	c.15643C>A	c.(15643-15645)CGC>AGC	p.R5215S	MUC4_uc010hzq.2_Missense_Mutation_p.R200S|MUC4_uc003fuz.2_Missense_Mutation_p.R941S|MUC4_uc003fva.2_Missense_Mutation_p.R823S|MUC4_uc003fvb.2_Missense_Mutation_p.R859S|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.R859S|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.R823S|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.R907S|MUC4_uc011bti.1_Missense_Mutation_p.R907S|MUC4_uc011btj.1_Missense_Mutation_p.R1084S|MUC4_uc011btk.1_Missense_Mutation_p.R823S|MUC4_uc011btl.1_Missense_Mutation_p.R852S|MUC4_uc011btm.1_Missense_Mutation_p.R1032S|MUC4_uc011btn.1_Missense_Mutation_p.R823S|MUC4_uc003fvo.2_Missense_Mutation_p.R1107S|MUC4_uc003fvp.2_Missense_Mutation_p.R1056S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	mucin 4 isoform a	2100	EGF-like 2.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity				0	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)														---	---	---	---	capture		Missense_Mutation	SNP	195475780	195475780	10372	3	G	T	T	39	39	MUC4	T	1	1
KIAA0226	9711	broad.mit.edu	37	3	197427648	197427648	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:197427648G>A	uc003fyc.2	-	7	1280	c.1097C>T	c.(1096-1098)GCC>GTC	p.A366V	KIAA0226_uc003fyd.3_Missense_Mutation_p.A306V|KIAA0226_uc003fye.1_Missense_Mutation_p.A73V|KIAA0226_uc003fyf.2_Missense_Mutation_p.A199V|KIAA0226_uc003fyg.2_Missense_Mutation_p.A359V	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	hypothetical protein LOC9711 isoform 2.	366	Ser-rich.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding				0	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	197427648	197427648	8469	3	G	A	A	42	42	KIAA0226	A	2	2
PDE6B	5158	broad.mit.edu	37	4	656969	656969	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:656969C>A	uc003gap.2	+	15	1966	c.1913C>A	c.(1912-1914)TCG>TAG	p.S638*	PDE6B_uc003gao.3_Nonsense_Mutation_p.S638*|PDE6B_uc011buy.1_Nonsense_Mutation_p.S359*|PDE6B_uc011buz.1_Nonsense_Mutation_p.S70*	NM_000283	NP_000274	P35913	PDE6B_HUMAN	phosphodiesterase 6B isoform 1	638					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding				0																		---	---	---	---	capture		Nonsense_Mutation	SNP	656969	656969	12067	4	C	A	A	31	31	PDE6B	A	5	1
RGS12	6002	broad.mit.edu	37	4	3318706	3318706	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:3318706C>A	uc003ggw.2	+	2	1713	c.809C>A	c.(808-810)TCG>TAG	p.S270*	RGS12_uc003ggu.2_Nonsense_Mutation_p.S270*|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_RNA|RGS12_uc003ggv.2_Nonsense_Mutation_p.S270*|RGS12_uc003ggx.1_Nonsense_Mutation_p.S270*	NM_198229	NP_937872	O14924	RGS12_HUMAN	regulator of G-protein signalling 12 isoform 1	270	PID.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			skin(1)	1				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---	capture		Nonsense_Mutation	SNP	3318706	3318706	13769	4	C	A	A	31	31	RGS12	A	5	1
OTOP1	133060	broad.mit.edu	37	4	4199632	4199632	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:4199632C>A	uc003ghp.1	-	5	959	c.929G>T	c.(928-930)GGG>GTG	p.G310V		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	310					biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)														---	---	---	---	capture		Missense_Mutation	SNP	4199632	4199632	11717	4	C	A	A	22	22	OTOP1	A	2	2
FGFBP2	83888	broad.mit.edu	37	4	15964609	15964609	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:15964609G>C	uc003gon.2	-	1	251	c.144C>G	c.(142-144)AGC>AGG	p.S48R		NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	killer-specific secretory protein of 37 kDa	48						extracellular space	growth factor binding				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	15964609	15964609	6098	4	G	C	C	46	46	FGFBP2	C	3	3
SLIT2	9353	broad.mit.edu	37	4	20533630	20533630	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:20533630C>T	uc003gpr.1	+	17	1841	c.1637C>T	c.(1636-1638)ACC>ATC	p.T546I	SLIT2_uc003gps.1_Missense_Mutation_p.T538I	NM_004787	NP_004778	O94813	SLIT2_HUMAN	slit homolog 2 precursor	546	LRR 12.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			central_nervous_system(4)|skin(4)|ovary(3)	11																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	20533630	20533630	15238	4	C	T	T	18	18	SLIT2	T	2	2
SEL1L3	23231	broad.mit.edu	37	4	25821452	25821452	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:25821452G>A	uc003gru.3	-	8	1553	c.1401C>T	c.(1399-1401)CAC>CAT	p.H467H		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3	467						integral to membrane	binding				0																		---	---	---	---	capture+wgs		Silent	SNP	25821452	25821452	14498	4	G	A	A	40	40	SEL1L3	A	1	1
LNX1	84708	broad.mit.edu	37	4	54327114	54327114	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:54327114A>G	uc003hag.3	-	11	2403	c.2147T>C	c.(2146-2148)ATT>ACT	p.I716T	PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Missense_Mutation_p.I620T|LNX1_uc003hah.3_RNA	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1 isoform a	716	PDZ 4.					cytoplasm	zinc ion binding			ovary(2)|central_nervous_system(2)	4	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	54327114	54327114	9194	4	A	G	G	4	4	LNX1	G	4	4
PPAT	5471	broad.mit.edu	37	4	57261688	57261688	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:57261688C>T	uc003hbr.2	-	11	1586	c.1384G>A	c.(1384-1386)GTA>ATA	p.V462I		NM_002703	NP_002694	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	462					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding				0	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	57261688	57261688	12732	4	C	T	T	20	20	PPAT	T	2	2
GK2	2712	broad.mit.edu	37	4	80328018	80328018	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:80328018A>G	uc003hlu.2	-	1	1355	c.1337T>C	c.(1336-1338)GTA>GCA	p.V446A		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	446					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	80328018	80328018	6689	4	A	G	G	14	14	GK2	G	4	4
UNC5C	8633	broad.mit.edu	37	4	96163623	96163623	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:96163623G>T	uc003htp.1	-	7	1219	c.1065C>A	c.(1063-1065)CTC>CTA	p.L355L	UNC5C_uc010ilc.1_Silent_p.L355L|UNC5C_uc003htq.2_Silent_p.L355L	NM_003728	NP_003719	O95185	UNC5C_HUMAN	unc5C precursor	355	Extracellular (Potential).|TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			ovary(3)|pancreas(1)	4		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)														---	---	---	---	capture+wgs		Silent	SNP	96163623	96163623	17551	4	G	T	T	37	37	UNC5C	T	1	1
NPNT	255743	broad.mit.edu	37	4	106888366	106888366	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:106888366C>A	uc003hya.2	+	11	1572	c.1367C>A	c.(1366-1368)TCG>TAG	p.S456*	NPNT_uc011cfc.1_Nonsense_Mutation_p.S473*|NPNT_uc011cfd.1_Nonsense_Mutation_p.S486*|NPNT_uc011cfe.1_Nonsense_Mutation_p.S457*|NPNT_uc010ilt.1_Nonsense_Mutation_p.S427*|NPNT_uc011cff.1_Nonsense_Mutation_p.S427*|NPNT_uc010ilu.1_Intron	NM_001033047	NP_001028219	Q6UXI9	NPNT_HUMAN	nephronectin precursor	456	MAM.				cell differentiation	membrane	calcium ion binding			skin(1)	1		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)														---	---	---	---	capture		Nonsense_Mutation	SNP	106888366	106888366	10995	4	C	A	A	31	31	NPNT	A	5	1
HPGD	3248	broad.mit.edu	37	4	175414319	175414319	+	Silent	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:175414319T>C	uc003itu.2	-	6	835	c.645A>G	c.(643-645)AAA>AAG	p.K215K	HPGD_uc003itt.2_Silent_p.K82K|HPGD_uc003itv.2_Intron|HPGD_uc011ckf.1_Silent_p.K94K|HPGD_uc010irp.2_Silent_p.K94K|HPGD_uc010irq.2_Intron|HPGD_uc011ckg.1_Silent_p.K147K|HPGD_uc011ckh.1_Silent_p.K94K	NM_000860	NP_000851	P15428	PGDH_HUMAN	hydroxyprostaglandin dehydrogenase 15-(NAD)	215					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity				0		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)													---	---	---	---	capture+wgs		Silent	SNP	175414319	175414319	7626	4	T	C	C	52	52	HPGD	C	4	4
SPCS3	60559	broad.mit.edu	37	4	177241318	177241318	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:177241318G>C	uc003iur.3	+	1	229	c.91G>C	c.(91-93)GCC>CCC	p.A31P		NM_021928	NP_068747	P61009	SPCS3_HUMAN	signal peptidase complex subunit 3	31	Helical; Signal-anchor for type II membrane protein; (Potential).				energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			ovary(1)	1		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.43e-19)|Epithelial(43;1.84e-16)|OV - Ovarian serous cystadenocarcinoma(60;4.51e-09)|GBM - Glioblastoma multiforme(59;0.000142)|STAD - Stomach adenocarcinoma(60;0.00279)|LUSC - Lung squamous cell carcinoma(193;0.0319)														---	---	---	---	capture		Missense_Mutation	SNP	177241318	177241318	15535	4	G	C	C	38	38	SPCS3	C	3	3
ODZ3	55714	broad.mit.edu	37	4	183675635	183675635	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:183675635G>T	uc003ivd.1	+	21	4152	c.4115G>T	c.(4114-4116)CGT>CTT	p.R1372L	ODZ3_uc003ive.1_Missense_Mutation_p.R785L	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	odz, odd Oz/ten-m homolog 3	1372	Extracellular (Potential).				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+wgs		Missense_Mutation	SNP	183675635	183675635	11241	4	G	T	T	40	40	ODZ3	T	1	1
SLC6A3	6531	broad.mit.edu	37	5	1432624	1432624	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:1432624C>A	uc003jck.2	-	4	729	c.608G>T	c.(607-609)GGC>GTC	p.G203V		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter	203	Extracellular (Potential).				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				ovary(3)|breast(2)|pancreas(1)	6			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)													---	---	---	---	capture		Missense_Mutation	SNP	1432624	1432624	15182	5	C	A	A	26	26	SLC6A3	A	2	2
DNAH5	1767	broad.mit.edu	37	5	13716740	13716740	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:13716740G>A	uc003jfd.2	-	74	12807	c.12765C>T	c.(12763-12765)GTC>GTT	p.V4255V	DNAH5_uc003jfc.2_Silent_p.V423V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4255					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31	Lung NSC(4;0.00476)													Kartagener_syndrome				---	---	---	---	capture+wgs		Silent	SNP	13716740	13716740	4787	5	G	A	A	45	45	DNAH5	A	2	2
FAM134B	54463	broad.mit.edu	37	5	16475279	16475279	+	Silent	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:16475279A>G	uc003jfs.2	-	9	1103	c.1065T>C	c.(1063-1065)AAT>AAC	p.N355N	FAM134B_uc003jfr.2_Silent_p.N214N	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN	hypothetical protein LOC54463 isoform 1	355					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				ovary(2)|breast(1)	3																		---	---	---	---	capture+wgs		Silent	SNP	16475279	16475279	5643	5	A	G	G	8	8	FAM134B	G	4	4
PRDM9	56979	broad.mit.edu	37	5	23510030	23510030	+	Silent	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:23510030T>C	uc003jgo.2	+	4	377	c.195T>C	c.(193-195)GGT>GGC	p.G65G		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	65	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6															HNSCC(3;0.000094)			---	---	---	---	capture+wgs		Silent	SNP	23510030	23510030	12906	5	T	C	C	58	58	PRDM9	C	4	4
PRDM9	56979	broad.mit.edu	37	5	23526702	23526702	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:23526702A>T	uc003jgo.2	+	11	1687	c.1505A>T	c.(1504-1506)CAG>CTG	p.Q502L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	502					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(3)|large_intestine(2)|pancreas(1)	6															HNSCC(3;0.000094)			---	---	---	---	capture+wgs		Missense_Mutation	SNP	23526702	23526702	12906	5	A	T	T	7	7	PRDM9	T	4	4
CDH6	1004	broad.mit.edu	37	5	31299570	31299570	+	Splice_Site	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:31299570G>T	uc003jhe.1	+	5	970	c.644_splice	c.e5-1	p.G215_splice	CDH6_uc003jhd.1_Splice_Site_p.G215_splice	NM_004932	NP_004923			cadherin 6, type 2 preproprotein						adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			ovary(4)|skin(2)|large_intestine(1)	7																		---	---	---	---	capture		Splice_Site	SNP	31299570	31299570	3243	5	G	T	T	35	35	CDH6	T	5	2
LIFR	3977	broad.mit.edu	37	5	38482277	38482277	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:38482277G>T	uc010ive.1	-	20	3046	c.2714C>A	c.(2713-2715)CCA>CAA	p.P905Q	LIFR_uc003jli.2_Missense_Mutation_p.P905Q	NM_001127671	NP_001121143	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor precursor	905	Cytoplasmic (Potential).				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			ovary(3)|large_intestine(1)	4	all_lung(31;0.00021)							T	PLAG1	salivary adenoma								---	---	---	---	capture		Missense_Mutation	SNP	38482277	38482277	9106	5	G	T	T	47	47	LIFR	T	2	2
IQGAP2	10788	broad.mit.edu	37	5	75902050	75902050	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:75902050G>T	uc003kek.2	+	12	1501	c.1279G>T	c.(1279-1281)GGG>TGG	p.G427W	IQGAP2_uc010izv.2_5'Flank|IQGAP2_uc011csv.1_5'Flank|IQGAP2_uc003kel.2_5'Flank	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	427					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			ovary(6)|central_nervous_system(1)	7		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)														---	---	---	---	capture		Missense_Mutation	SNP	75902050	75902050	8118	5	G	T	T	35	35	IQGAP2	T	2	2
SLC22A4	6583	broad.mit.edu	37	5	131647890	131647890	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:131647890C>A	uc003kwq.2	+	2	595	c.430C>A	c.(430-432)CTC>ATC	p.L144I	SLC22A4_uc010jdq.1_RNA|uc003kwr.3_RNA	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	solute carrier family 22 member 4	144	Helical; Name=2; (Potential).				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity				0		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)													---	---	---	---	capture		Missense_Mutation	SNP	131647890	131647890	14953	5	C	A	A	24	24	SLC22A4	A	2	2
HSPA9	3313	broad.mit.edu	37	5	137895598	137895598	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:137895598G>T	uc003ldf.2	-	11	1473	c.1365C>A	c.(1363-1365)ACC>ACA	p.T455T	HSPA9_uc003lde.2_5'Flank|HSPA9_uc011cyw.1_Silent_p.T386T	NM_004134	NP_004125	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 precursor	455					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding				0			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)															---	---	---	---	capture		Silent	SNP	137895598	137895598	7716	5	G	T	T	47	47	HSPA9	T	2	2
PSD2	84249	broad.mit.edu	37	5	139193044	139193044	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:139193044C>T	uc003leu.1	+	3	727	c.522C>T	c.(520-522)GTC>GTT	p.V174V		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	174					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			ovary(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture+wgs		Silent	SNP	139193044	139193044	13100	5	C	T	T	29	29	PSD2	T	2	2
PCDHA2	56146	broad.mit.edu	37	5	140176083	140176083	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:140176083G>A	uc003lhd.2	+	1	1640	c.1534G>A	c.(1534-1536)GCG>ACG	p.A512T	PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A512T|PCDHA2_uc011czy.1_Missense_Mutation_p.A512T	NM_018905	NP_061728	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2 isoform 1 precursor	512	Cadherin 5.|Extracellular (Potential).				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding			ovary(4)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	140176083	140176083	11944	5	G	A	A	38	38	PCDHA2	A	1	1
HAVCR1	26762	broad.mit.edu	37	5	156482466	156482466	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156482466A>G	uc010jij.1	-	3	310	c.125T>C	c.(124-126)GTC>GCC	p.V42A	HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.V42A|HAVCR1_uc011ddm.1_Missense_Mutation_p.V42A	NM_001099414	NP_001092884	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	42	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			ovary(1)|skin(1)	2	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	156482466	156482466	7255	5	A	G	G	10	10	HAVCR1	G	4	4
CYFIP2	26999	broad.mit.edu	37	5	156816315	156816315	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:156816315G>T	uc003lwq.2	+	31	3464	c.3326G>T	c.(3325-3327)CGG>CTG	p.R1109L	CYFIP2_uc011ddn.1_Missense_Mutation_p.R1083L|CYFIP2_uc011ddo.1_Missense_Mutation_p.R913L|CYFIP2_uc003lwr.2_Missense_Mutation_p.R1109L|CYFIP2_uc003lws.2_Missense_Mutation_p.R1109L|CYFIP2_uc003lwt.2_Missense_Mutation_p.R1012L|CYFIP2_uc011ddp.1_Missense_Mutation_p.R843L|CYFIP2_uc003lwv.2_Missense_Mutation_p.R64L	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1134					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding				0	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)															---	---	---	---	capture		Missense_Mutation	SNP	156816315	156816315	4303	5	G	T	T	39	39	CYFIP2	T	1	1
HIST1H2BA	255626	broad.mit.edu	37	6	25727146	25727146	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25727146G>A	uc003nfd.2	+	1	10	c.10G>A	c.(10-12)GTG>ATG	p.V4M	HIST1H2AA_uc003nfc.2_5'Flank	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	4					nucleosome assembly	nucleosome|nucleus	DNA binding			kidney(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	25727146	25727146	7425	6	G	A	A	44	44	HIST1H2BA	A	2	2
SLC17A4	10050	broad.mit.edu	37	6	25770337	25770337	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:25770337C>G	uc003nfe.2	+	4	459	c.340C>G	c.(340-342)CTC>GTC	p.L114V	SLC17A4_uc011djx.1_Intron|SLC17A4_uc003nff.1_Intron|SLC17A4_uc003nfg.2_Missense_Mutation_p.L51V	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	solute carrier family 17 (sodium phosphate),	114					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			skin(1)	1																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	25770337	25770337	14915	6	C	G	G	24	24	SLC17A4	G	3	3
ZNF187	7741	broad.mit.edu	37	6	28244043	28244043	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:28244043G>T	uc011dld.1	+	5	877	c.607G>T	c.(607-609)GGG>TGG	p.G203W	ZNF187_uc011dlc.1_Missense_Mutation_p.G204W|ZNF187_uc003nku.3_Missense_Mutation_p.G69W|ZNF187_uc003nkw.3_Missense_Mutation_p.G50W|ZNF187_uc011dle.1_Missense_Mutation_p.G50W|ZNF187_uc011dlf.1_5'UTR|ZNF187_uc011dlg.1_Missense_Mutation_p.G50W	NM_001111039	NP_001104509	Q16670	ZN187_HUMAN	zinc finger protein 187 isoform b	203					viral reproduction	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding				0																		---	---	---	---	capture		Missense_Mutation	SNP	28244043	28244043	18344	6	G	T	T	47	47	ZNF187	T	2	2
DEF6	50619	broad.mit.edu	37	6	35280413	35280413	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:35280413G>T	uc003okk.2	+	5	710	c.671G>T	c.(670-672)TGG>TTG	p.W224L	DEF6_uc010jvs.2_Missense_Mutation_p.W224L|DEF6_uc010jvt.2_Intron	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog	224	PH.					cytoplasm|nucleus|plasma membrane					0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	35280413	35280413	4557	6	G	T	T	47	47	DEF6	T	2	2
DNAH8	1769	broad.mit.edu	37	6	38939383	38939383	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:38939383C>A	uc003ooe.1	+	81	12416	c.11816C>A	c.(11815-11817)TCA>TAA	p.S3939*	DNAH8_uc003oog.1_Nonsense_Mutation_p.S388*	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		Nonsense_Mutation	SNP	38939383	38939383	4790	6	C	A	A	29	29	DNAH8	A	5	2
ABCC10	89845	broad.mit.edu	37	6	43400566	43400566	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:43400566G>T	uc003ouy.1	+	3	1063	c.848G>T	c.(847-849)CGG>CTG	p.R283L	ABCC10_uc003ouz.1_Missense_Mutation_p.R240L|ABCC10_uc010jyo.1_5'Flank	NM_033450	NP_258261	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C, member 10	283						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			ovary(6)|central_nervous_system(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)															---	---	---	---	capture		Missense_Mutation	SNP	43400566	43400566	51	6	G	T	T	39	39	ABCC10	T	1	1
PKHD1	5314	broad.mit.edu	37	6	51907930	51907930	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:51907930C>G	uc003pah.1	-	27	3100	c.2824G>C	c.(2824-2826)GGT>CGT	p.G942R	PKHD1_uc003pai.2_Missense_Mutation_p.G942R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	fibrocystin isoform 1	942	IPT/TIG 4.|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+wgs		Missense_Mutation	SNP	51907930	51907930	12396	6	C	G	G	21	21	PKHD1	G	3	3
GSTA1	2938	broad.mit.edu	37	6	52656747	52656747	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:52656747G>T	uc003paz.2	-	7	690	c.578C>A	c.(577-579)ACA>AAA	p.T193K		NM_145740	NP_665683	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	193	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			ovary(1)	1	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)													---	---	---	---	capture		Missense_Mutation	SNP	52656747	52656747	7110	6	G	T	T	48	48	GSTA1	T	2	2
RIMS1	22999	broad.mit.edu	37	6	72967848	72967848	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:72967848A>G	uc003pga.2	+	17	2868	c.2791A>G	c.(2791-2793)AGA>GGA	p.R931G	RIMS1_uc011dyb.1_Missense_Mutation_p.R556G|RIMS1_uc003pgc.2_Missense_Mutation_p.R557G|RIMS1_uc010kaq.2_Missense_Mutation_p.R404G|RIMS1_uc011dyc.1_Missense_Mutation_p.R405G|RIMS1_uc010kar.2_Missense_Mutation_p.R324G|RIMS1_uc011dyd.1_Missense_Mutation_p.R390G|RIMS1_uc003pgf.2_Missense_Mutation_p.R147G|RIMS1_uc003pgg.2_Missense_Mutation_p.R148G|RIMS1_uc003pgi.2_Missense_Mutation_p.R147G|RIMS1_uc003pgh.2_Missense_Mutation_p.R147G|RIMS1_uc003pgd.2_Missense_Mutation_p.R148G|RIMS1_uc003pge.2_Missense_Mutation_p.R148G|RIMS1_uc011dye.1_5'UTR|RIMS1_uc011dyf.1_5'Flank|RIMS1_uc003pgb.3_Missense_Mutation_p.R557G|RIMS1_uc010kas.1_Missense_Mutation_p.R390G	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	931					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+wgs		Missense_Mutation	SNP	72967848	72967848	13844	6	A	G	G	15	15	RIMS1	G	4	4
KIAA1009	22832	broad.mit.edu	37	6	84865148	84865148	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:84865148C>A	uc010kbp.2	-	22	2960	c.2863G>T	c.(2863-2865)GAT>TAT	p.D955Y	KIAA1009_uc003pkj.3_Missense_Mutation_p.D879Y|KIAA1009_uc003pki.3_Missense_Mutation_p.D341Y	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	KIAA1009 protein	955	Potential.				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			ovary(1)	1		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	84865148	84865148	8510	6	C	A	A	29	29	KIAA1009	A	2	2
HACE1	57531	broad.mit.edu	37	6	105281021	105281021	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:105281021T>C	uc003pqu.1	-	6	707	c.430A>G	c.(430-432)ACA>GCA	p.T144A	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.T144A	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing, E3	144	ANK 3.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			ovary(5)|lung(2)	7		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	105281021	105281021	7222	6	T	C	C	58	58	HACE1	C	4	4
ARMC2	84071	broad.mit.edu	37	6	109175566	109175566	+	Silent	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109175566A>G	uc003pss.3	+	2	270	c.96A>G	c.(94-96)GAA>GAG	p.E32E	ARMC2_uc011eao.1_5'UTR	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	32							binding				0		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)														---	---	---	---	capture+wgs		Silent	SNP	109175566	109175566	969	6	A	G	G	3	3	ARMC2	G	4	4
SESN1	27244	broad.mit.edu	37	6	109415214	109415214	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109415214C>A	uc003psu.2	-	1	74	c.63G>T	c.(61-63)AGG>AGT	p.R21S	C6orf182_uc003psv.3_5'Flank|C6orf182_uc003psw.3_5'Flank|C6orf182_uc010kdk.2_5'Flank|C6orf182_uc003psx.3_5'Flank|C6orf182_uc010kdl.2_5'Flank	NM_014454	NP_055269	Q9Y6P5	SESN1_HUMAN	sestrin 1	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				ovary(1)	1		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)														---	---	---	---	capture		Missense_Mutation	SNP	109415214	109415214	14612	6	C	A	A	22	22	SESN1	A	2	2
MICAL1	64780	broad.mit.edu	37	6	109769511	109769511	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:109769511G>T	uc003ptj.2	-	12	2004	c.1750C>A	c.(1750-1752)CCG>ACG	p.P584T	MICAL1_uc003ptk.2_Missense_Mutation_p.P584T|MICAL1_uc010kdr.2_Missense_Mutation_p.P498T|MICAL1_uc011eaq.1_Missense_Mutation_p.P603T	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	microtubule associated monoxygenase, calponin	584	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			breast(2)|ovary(1)	3		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	109769511	109769511	9959	6	G	T	T	44	44	MICAL1	T	2	2
DDO	8528	broad.mit.edu	37	6	110736689	110736689	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:110736689C>A	uc003puc.2	-	1	65	c.61G>T	c.(61-63)GAC>TAC	p.D21Y	DDO_uc003pud.2_Missense_Mutation_p.D21Y	NM_003649	NP_003640	Q99489	OXDD_HUMAN	D-aspartate oxidase isoform a	Error:Variant_position_missing_in_Q99489_after_alignment					aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity			ovary(2)|breast(1)	3		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	110736689	110736689	4505	6	C	A	A	32	32	DDO	A	2	2
CLVS2	134829	broad.mit.edu	37	6	123318999	123318999	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:123318999C>A	uc003pzi.1	+	2	946	c.77C>A	c.(76-78)ACG>AAG	p.T26K		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	retinaldehyde binding protein 1-like 2	26					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	123318999	123318999	3710	6	C	A	A	19	19	CLVS2	A	1	1
THEMIS	387357	broad.mit.edu	37	6	128134270	128134270	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:128134270C>A	uc003qbi.2	-	5	1835	c.1516G>T	c.(1516-1518)GTG>TTG	p.V506L	THEMIS_uc010kfa.2_Missense_Mutation_p.V409L|THEMIS_uc011ebt.1_Missense_Mutation_p.V506L|THEMIS_uc010kfb.2_Missense_Mutation_p.V471L	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN	thymocyte selection pathway associated isoform	506	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				ovary(2)|skin(2)	4																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	128134270	128134270	16388	6	C	A	A	17	17	THEMIS	A	2	2
GRM1	2911	broad.mit.edu	37	6	146673571	146673571	+	Missense_Mutation	SNP	T	A	A	rs151255685		TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:146673571T>A	uc010khw.1	+	5	1842	c.1372T>A	c.(1372-1374)TCA>ACA	p.S458T	GRM1_uc010khv.1_Missense_Mutation_p.S458T|GRM1_uc003qll.2_Missense_Mutation_p.S458T|GRM1_uc011edz.1_Missense_Mutation_p.S458T|GRM1_uc011eea.1_Missense_Mutation_p.S458T	NM_000838	NP_000829	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1 isoform alpha	458	Extracellular (Potential).				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	146673571	146673571	7075	6	T	A	A	54	54	GRM1	A	4	4
C6orf97	80129	broad.mit.edu	37	6	151859208	151859208	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:151859208C>T	uc003qol.2	+	3	304	c.215C>T	c.(214-216)TCT>TTT	p.S72F		NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	hypothetical protein LOC80129	72	Potential.										0		Ovarian(120;0.126)	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	151859208	151859208	2481	6	C	T	T	32	32	C6orf97	T	2	2
SYNE1	23345	broad.mit.edu	37	6	152949431	152949431	+	Silent	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:152949431C>A	uc010kiw.2	-	3	638	c.36G>T	c.(34-36)CGG>CGT	p.R12R	SYNE1_uc003qot.3_Silent_p.R12R|SYNE1_uc003qou.3_Silent_p.R12R|SYNE1_uc010kjb.1_Silent_p.R12R|SYNE1_uc003qpa.1_Silent_p.R12R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	12	Actin-binding.|Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)											HNSCC(10;0.0054)			---	---	---	---	capture+wgs		Silent	SNP	152949431	152949431	15966	6	C	A	A	22	22	SYNE1	A	2	2
ARID1B	57492	broad.mit.edu	37	6	157521975	157521975	+	Missense_Mutation	SNP	G	T	T	rs144424476		TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:157521975G>T	uc003qqn.2	+	18	4345	c.4193G>T	c.(4192-4194)CGC>CTC	p.R1398L	ARID1B_uc003qqo.2_Missense_Mutation_p.R1358L|ARID1B_uc003qqp.2_Missense_Mutation_p.R1345L	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1403					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	157521975	157521975	929	6	G	T	T	38	38	ARID1B	T	1	1
TULP4	56995	broad.mit.edu	37	6	158914661	158914661	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:158914661C>A	uc003qrf.2	+	10	3045	c.1688C>A	c.(1687-1689)TCC>TAC	p.S563Y	TULP4_uc003qrg.2_Missense_Mutation_p.S563Y	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	tubby like protein 4 isoform 1	563					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			ovary(1)	1		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)														---	---	---	---	capture		Missense_Mutation	SNP	158914661	158914661	17331	6	C	A	A	30	30	TULP4	A	2	2
LPA	4018	broad.mit.edu	37	6	161006101	161006101	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:161006101C>G	uc003qtl.2	-	27	4386	c.4266G>C	c.(4264-4266)AGG>AGC	p.R1422S		NM_005577	NP_005568	P08519	APOA_HUMAN	lipoprotein Lp(a) precursor	3930	Kringle 35.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			ovary(3)|skin(2)|pancreas(1)	6		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	161006101	161006101	9276	6	C	G	G	30	30	LPA	G	3	3
C6orf70	55780	broad.mit.edu	37	6	170169666	170169666	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:170169666G>C	uc003qxg.1	+	12	1123	c.1090G>C	c.(1090-1092)GAG>CAG	p.E364Q	C6orf70_uc011ehb.1_Missense_Mutation_p.E238Q|C6orf70_uc003qxh.1_Missense_Mutation_p.E364Q|C6orf70_uc010kky.1_Missense_Mutation_p.E238Q|C6orf70_uc003qxi.1_Missense_Mutation_p.E12Q	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	hypothetical protein LOC55780	364						integral to membrane				ovary(1)	1		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	170169666	170169666	2476	6	G	C	C	41	41	C6orf70	C	3	3
SDK1	221935	broad.mit.edu	37	7	4089005	4089005	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:4089005G>T	uc003smx.2	+	18	2767	c.2628G>T	c.(2626-2628)GTG>GTT	p.V876V	SDK1_uc010kso.2_Silent_p.V152V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	sidekick 1 precursor	876	Fibronectin type-III 3.				cell adhesion	integral to membrane				large_intestine(3)|ovary(2)|skin(1)	6		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)														---	---	---	---	capture+wgs		Silent	SNP	4089005	4089005	14454	7	G	T	T	46	46	SDK1	T	2	2
COL28A1	340267	broad.mit.edu	37	7	7410440	7410440	+	Silent	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:7410440T>C	uc003src.1	-	33	3099	c.2982A>G	c.(2980-2982)TCA>TCG	p.S994S	COL28A1_uc011jxe.1_Silent_p.S677S	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	collagen, type XXVIII precursor	994					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			skin(3)	3		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)														---	---	---	---	capture+wgs		Silent	SNP	7410440	7410440	3824	7	T	C	C	51	51	COL28A1	C	4	4
GLCCI1	113263	broad.mit.edu	37	7	8099836	8099836	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:8099836G>A	uc003srk.2	+	5	1483	c.924G>A	c.(922-924)AAG>AAA	p.K308K		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	308											0		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)														---	---	---	---	capture+wgs		Silent	SNP	8099836	8099836	6699	7	G	A	A	35	35	GLCCI1	A	2	2
ABCB5	340273	broad.mit.edu	37	7	20762813	20762813	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:20762813G>A	uc003suw.3	+	12	1807	c.1261G>A	c.(1261-1263)GAT>AAT	p.D421N	ABCB5_uc010kuh.2_Missense_Mutation_p.D866N|ABCB5_uc003sux.1_Missense_Mutation_p.D44N	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B, member 5	421	Cytoplasmic (Potential).|ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	20762813	20762813	45	7	G	A	A	33	33	ABCB5	A	2	2
DNAH11	8701	broad.mit.edu	37	7	21727028	21727028	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:21727028T>A	uc003svc.2	+	35	5859	c.5828T>A	c.(5827-5829)GTG>GAG	p.V1943E		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1943	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15														Kartagener_syndrome				---	---	---	---	capture+wgs		Missense_Mutation	SNP	21727028	21727028	4781	7	T	A	A	59	59	DNAH11	A	4	4
CREB5	9586	broad.mit.edu	37	7	28848907	28848907	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:28848907G>A	uc003szq.2	+	9	1520	c.1130G>A	c.(1129-1131)AGG>AAG	p.R377K	CREB5_uc003szo.2_Missense_Mutation_p.R344K|CREB5_uc003szr.2_Missense_Mutation_p.R370K|CREB5_uc003szs.2_Missense_Mutation_p.R238K	NM_182898	NP_878901	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	377	Basic motif.				positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			skin(2)	2																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	28848907	28848907	3999	7	G	A	A	35	35	CREB5	A	2	2
CCDC129	223075	broad.mit.edu	37	7	31592800	31592800	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:31592800G>T	uc003tcj.1	+	2	1155	c.162G>T	c.(160-162)CTG>CTT	p.L54L	CCDC129_uc011kad.1_Silent_p.L64L|CCDC129_uc003tci.1_Silent_p.L53L|CCDC129_uc011kae.1_Silent_p.L80L|CCDC129_uc003tck.1_5'Flank	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	54											0																		---	---	---	---	capture+wgs		Silent	SNP	31592800	31592800	2884	7	G	T	T	47	47	CCDC129	T	2	2
ZPBP	11055	broad.mit.edu	37	7	50057886	50057886	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:50057886G>T	uc003tou.2	-	6	803	c.733C>A	c.(733-735)CCC>ACC	p.P245T	ZPBP_uc011kci.1_Missense_Mutation_p.P171T|ZPBP_uc010kyw.2_Missense_Mutation_p.P244T	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	245					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	50057886	50057886	18823	7	G	T	T	44	44	ZPBP	T	2	2
MAGI2	9863	broad.mit.edu	37	7	78150946	78150946	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:78150946G>T	uc003ugx.2	-	4	809	c.555C>A	c.(553-555)ACC>ACA	p.T185T	MAGI2_uc003ugy.2_Silent_p.T185T|MAGI2_uc011kgr.1_Silent_p.T17T|MAGI2_uc011kgs.1_Silent_p.T22T	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ	185	Guanylate kinase-like.					cell junction|synapse|synaptosome	phosphatase binding			ovary(5)|lung(4)|breast(1)|skin(1)	11		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)																---	---	---	---	capture		Silent	SNP	78150946	78150946	9574	7	G	T	T	43	43	MAGI2	T	2	2
SEMA3A	10371	broad.mit.edu	37	7	83689790	83689790	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:83689790G>T	uc003uhz.2	-	5	853	c.538C>A	c.(538-540)CTT>ATT	p.L180I		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	semaphorin 3A precursor	180	Sema.				axon guidance	extracellular region|membrane	receptor activity			ovary(2)|breast(1)|kidney(1)	4																		---	---	---	---	capture		Missense_Mutation	SNP	83689790	83689790	14510	7	G	T	T	35	35	SEMA3A	T	2	2
HEPACAM2	253012	broad.mit.edu	37	7	92848535	92848535	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:92848535G>T	uc003umm.2	-	2	332	c.309C>A	c.(307-309)CCC>CCA	p.P103P	HEPACAM2_uc003uml.2_Silent_p.P91P|HEPACAM2_uc010lff.2_Silent_p.P91P|HEPACAM2_uc011khy.1_Silent_p.P126P	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN	HEPACAM family member 2 isoform 1	103	Extracellular (Potential).					integral to membrane				ovary(3)|breast(1)|kidney(1)	5																		---	---	---	---	capture		Silent	SNP	92848535	92848535	7336	7	G	T	T	47	47	HEPACAM2	T	2	2
SPDYE3	441272	broad.mit.edu	37	7	99917383	99917383	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99917383C>T	uc003uug.1	+	4	651	c.411C>T	c.(409-411)TTC>TTT	p.F137F	uc011kjm.1_5'Flank	NM_001004351	NP_001004351	A6NKU9	SPDE3_HUMAN	speedy homolog E3	514											0																		---	---	---	---	capture+wgs		Silent	SNP	99917383	99917383	15542	7	C	T	T	32	32	SPDYE3	T	2	2
PILRA	29992	broad.mit.edu	37	7	99971747	99971747	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:99971747G>T	uc003uuo.1	+	2	357	c.145G>T	c.(145-147)GTG>TTG	p.V49L	PILRA_uc011kjn.1_Missense_Mutation_p.V49L|PILRA_uc011kjo.1_Missense_Mutation_p.V49L|PILRA_uc003uup.1_Missense_Mutation_p.V49L|PILRA_uc003uuq.1_Missense_Mutation_p.V49L	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	paired immunoglobulin-like type 2 receptor alpha	49	Extracellular (Potential).|Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			skin(1)	1	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)																	---	---	---	---	capture+wgs		Missense_Mutation	SNP	99971747	99971747	12349	7	G	T	T	48	48	PILRA	T	2	2
CADPS2	93664	broad.mit.edu	37	7	122111562	122111562	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:122111562C>A	uc010lkp.2	-	13	2216	c.2053G>T	c.(2053-2055)GGT>TGT	p.G685C	CADPS2_uc011knx.1_Missense_Mutation_p.G56C|CADPS2_uc003vkg.3_Missense_Mutation_p.G382C|CADPS2_uc010lkq.2_Missense_Mutation_p.G682C	NM_017954	NP_060424	Q86UW7	CAPS2_HUMAN	Ca2+-dependent activator protein for secretion 2	685					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	122111562	122111562	2687	7	C	A	A	21	21	CADPS2	A	2	2
AGK	55750	broad.mit.edu	37	7	141315303	141315303	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:141315303C>T	uc003vwi.2	+	8	627	c.456C>T	c.(454-456)ATC>ATT	p.I152I	AGK_uc011krg.1_RNA	NM_018238	NP_060708	Q53H12	AGK_HUMAN	acylglycerol kinase precursor	152	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			ovary(1)|breast(1)	2	Melanoma(164;0.0171)																	---	---	---	---	capture+wgs		Silent	SNP	141315303	141315303	386	7	C	T	T	30	30	AGK	T	2	2
FAM115C	285966	broad.mit.edu	37	7	143421745	143421745	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:143421745C>T	uc003wdf.2	+	7	2543	c.2460C>T	c.(2458-2460)CCC>CCT	p.P820P	FAM115C_uc003wdg.2_Silent_p.P539P|FAM115C_uc011ktk.1_Silent_p.P820P|FAM115C_uc003wdh.2_Silent_p.P820P|FAM115C_uc011ktm.1_Silent_p.P820P|uc011ktn.1_Intron|uc011kto.1_Intron|uc011ktp.1_Intron|LOC154761_uc011ktq.1_Intron|LOC154761_uc011ktr.1_Intron|LOC154761_uc011kts.1_Intron|LOC154761_uc003wdj.1_Intron|FAM115C_uc011ktt.1_Silent_p.P716P|FAM115C_uc003wdi.1_Silent_p.P539P	NM_001130025	NP_001123497	A6NFQ2	F115C_HUMAN	hypothetical protein LOC285966 isoform A	820											0																		---	---	---	---	capture		Silent	SNP	143421745	143421745	5603	7	C	T	T	22	22	FAM115C	T	2	2
ZNF862	643641	broad.mit.edu	37	7	149545452	149545452	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:149545452C>T	uc010lpn.2	+	4	1062	c.870C>T	c.(868-870)ATC>ATT	p.I290I	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	290					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1																		---	---	---	---	capture+wgs		Silent	SNP	149545452	149545452	18798	7	C	T	T	29	29	ZNF862	T	2	2
MLL3	58508	broad.mit.edu	37	7	151849944	151849944	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:151849944C>A	uc003wla.2	-	49	12591	c.12372G>T	c.(12370-12372)ATG>ATT	p.M4124I	MLL3_uc003wkz.2_Missense_Mutation_p.M3242I|MLL3_uc003wkx.2_Missense_Mutation_p.M282I|MLL3_uc003wky.2_Missense_Mutation_p.M1688I	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 3	4124					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)				N		medulloblastoma								---	---	---	---	capture		Missense_Mutation	SNP	151849944	151849944	10012	7	C	A	A	21	21	MLL3	A	2	2
NEIL2	252969	broad.mit.edu	37	8	11640745	11640745	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:11640745G>T	uc003wug.2	+	4	1200	c.525G>T	c.(523-525)CTG>CTT	p.L175L	NEIL2_uc003wue.2_Silent_p.L175L|NEIL2_uc003wuf.2_Silent_p.L114L|NEIL2_uc011kxd.1_Silent_p.L59L	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	nei like 2 isoform a	175					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding				0	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)									BER_DNA_glycosylases					---	---	---	---	capture+wgs		Silent	SNP	11640745	11640745	10718	8	G	T	T	47	47	NEIL2	T	2	2
FBXO16	157574	broad.mit.edu	37	8	28309902	28309902	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:28309902C>A	uc003xgu.2	-	6	697	c.599G>T	c.(598-600)CGG>CTG	p.R200L	ZNF395_uc003xgt.2_5'UTR|FBXO16_uc003xgv.2_Missense_Mutation_p.R187L|FBXO16_uc003xgw.2_Missense_Mutation_p.R187L	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	F-box only protein 16	200										ovary(1)	1		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	28309902	28309902	5966	8	C	A	A	23	23	FBXO16	A	1	1
ZFHX4	79776	broad.mit.edu	37	8	77618799	77618799	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77618799G>T	uc003yav.2	+	2	2863	c.2476G>T	c.(2476-2478)GCC>TCC	p.A826S	ZFHX4_uc003yat.1_Missense_Mutation_p.A826S|ZFHX4_uc003yau.1_Missense_Mutation_p.A826S|ZFHX4_uc003yaw.1_Missense_Mutation_p.A826S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	826						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+wgs		Missense_Mutation	SNP	77618799	77618799	18223	8	G	T	T	34	34	ZFHX4	T	2	2
ZFHX4	79776	broad.mit.edu	37	8	77763701	77763701	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:77763701C>A	uc003yav.2	+	10	4796	c.4409C>A	c.(4408-4410)TCT>TAT	p.S1470Y	ZFHX4_uc003yau.1_Missense_Mutation_p.S1515Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.S1470Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	zinc finger homeodomain 4	1470						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+wgs		Missense_Mutation	SNP	77763701	77763701	18223	8	C	A	A	32	32	ZFHX4	A	2	2
KIAA1429	25962	broad.mit.edu	37	8	95543306	95543306	+	Silent	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:95543306C>A	uc003ygo.1	-	6	505	c.492G>T	c.(490-492)GGG>GGT	p.G164G	KIAA1429_uc003ygp.2_Silent_p.G164G	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	hypothetical protein LOC25962 isoform 1	164	Pro-rich.				mRNA processing|RNA splicing	nucleus				ovary(1)|skin(1)	2	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)															---	---	---	---	capture		Silent	SNP	95543306	95543306	8540	8	C	A	A	22	22	KIAA1429	A	2	2
CSMD3	114788	broad.mit.edu	37	8	113237043	113237043	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113237043A>G	uc003ynu.2	-	71	11240	c.11081T>C	c.(11080-11082)GTA>GCA	p.V3694A	CSMD3_uc003yns.2_Missense_Mutation_p.V2896A|CSMD3_uc003ynt.2_Missense_Mutation_p.V3654A|CSMD3_uc011lhx.1_Missense_Mutation_p.V3525A	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3694	Cytoplasmic (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---	capture+wgs		Missense_Mutation	SNP	113237043	113237043	4087	8	A	G	G	14	14	CSMD3	G	4	4
CSMD3	114788	broad.mit.edu	37	8	113418774	113418774	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:113418774C>A	uc003ynu.2	-	35	5947	c.5788G>T	c.(5788-5790)GAT>TAT	p.D1930Y	CSMD3_uc003yns.2_Missense_Mutation_p.D1132Y|CSMD3_uc003ynt.2_Missense_Mutation_p.D1890Y|CSMD3_uc011lhx.1_Missense_Mutation_p.D1826Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	1930	Sushi 10.|Extracellular (Potential).					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63															HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	---	---	---	capture+wgs		Missense_Mutation	SNP	113418774	113418774	4087	8	C	A	A	29	29	CSMD3	A	2	2
NDRG1	10397	broad.mit.edu	37	8	134262695	134262695	+	Missense_Mutation	SNP	T	C	C	rs137993172		TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:134262695T>C	uc003yuh.2	-	10	1272	c.686A>G	c.(685-687)AAT>AGT	p.N229S	NDRG1_uc003yuf.1_Missense_Mutation_p.N40S|NDRG1_uc003yug.2_Missense_Mutation_p.N229S|NDRG1_uc010mee.2_Missense_Mutation_p.N148S|NDRG1_uc010mef.2_Missense_Mutation_p.N163S|NDRG1_uc011ljh.1_Missense_Mutation_p.N57S|NDRG1_uc011lji.1_Intron	NM_001135242	NP_001128714	Q92597	NDRG1_HUMAN	N-myc downstream regulated 1	229					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding			ovary(4)	4	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)															---	---	---	---	capture+wgs		Missense_Mutation	SNP	134262695	134262695	10650	8	T	C	C	52	52	NDRG1	C	4	4
FAM135B	51059	broad.mit.edu	37	8	139164198	139164198	+	Missense_Mutation	SNP	C	A	A	rs139253577		TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:139164198C>A	uc003yuy.2	-	13	2691	c.2520G>T	c.(2518-2520)CAG>CAT	p.Q840H	FAM135B_uc003yux.2_Missense_Mutation_p.Q741H|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.Q402H|FAM135B_uc003yvb.2_Missense_Mutation_p.Q402H	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	hypothetical protein LOC51059	840										ovary(7)|skin(2)	9	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)												HNSCC(54;0.14)			---	---	---	---	capture+wgs		Missense_Mutation	SNP	139164198	139164198	5646	8	C	A	A	24	24	FAM135B	A	2	2
TOP1MT	116447	broad.mit.edu	37	8	144406775	144406775	+	Silent	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144406775C>A	uc003yxz.2	-	6	715	c.696G>T	c.(694-696)CCG>CCT	p.P232P	TOP1MT_uc011lkd.1_Silent_p.P134P|TOP1MT_uc011lke.1_Silent_p.P134P|TOP1MT_uc010mfb.2_Silent_p.P134P|TOP1MT_uc011lkf.1_Silent_p.P27P|TOP1MT_uc010mfd.1_Silent_p.P27P	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	mitochondrial topoisomerase I precursor	232					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			ovary(1)	1	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)													---	---	---	---	capture+wgs		Silent	SNP	144406775	144406775	16906	8	C	A	A	23	23	TOP1MT	A	1	1
ZC3H3	23144	broad.mit.edu	37	8	144548013	144548013	+	Silent	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144548013C>A	uc003yyd.2	-	9	2210	c.2181G>T	c.(2179-2181)CCG>CCT	p.P727P		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	727	C3H1-type 3.				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			skin(1)	1	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)															---	---	---	---	capture		Silent	SNP	144548013	144548013	18157	8	C	A	A	23	23	ZC3H3	A	1	1
PLEC	5339	broad.mit.edu	37	8	144990859	144990859	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:144990859C>G	uc003zaf.1	-	32	13711	c.13541G>C	c.(13540-13542)GGC>GCC	p.G4514A	PLEC_uc003zab.1_Missense_Mutation_p.G4377A|PLEC_uc003zac.1_Missense_Mutation_p.G4381A|PLEC_uc003zad.2_Missense_Mutation_p.G4377A|PLEC_uc003zae.1_Missense_Mutation_p.G4345A|PLEC_uc003zag.1_Missense_Mutation_p.G4355A|PLEC_uc003zah.2_Missense_Mutation_p.G4363A|PLEC_uc003zaj.2_Missense_Mutation_p.G4404A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	plectin isoform 1	4514	Globular 2.|Plectin 31.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle			large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	144990859	144990859	12478	8	C	G	G	26	26	PLEC	G	3	3
IFNA5	3442	broad.mit.edu	37	9	21305250	21305250	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:21305250G>T	uc011lnh.1	-	1	6	c.6C>A	c.(4-6)GCC>GCA	p.A2A		NM_002169	NP_002160	P01569	IFNA5_HUMAN	interferon, alpha 5 precursor	2					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			ovary(1)	1				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)														---	---	---	---	capture+wgs		Silent	SNP	21305250	21305250	7841	9	G	T	T	35	35	IFNA5	T	2	2
AQP7	364	broad.mit.edu	37	9	33385652	33385652	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33385652G>A	uc003zst.2	-	7	910	c.738C>T	c.(736-738)GTC>GTT	p.V246V	SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Silent_p.V189V|AQP7_uc010mjs.2_Silent_p.V154V|AQP7_uc010mjt.2_Silent_p.V154V|AQP7_uc011lnx.1_Silent_p.V246V|AQP7_uc011lny.1_Silent_p.V245V|AQP7_uc003zss.3_Silent_p.V154V|AQP7_uc011lnz.1_Silent_p.V154V|AQP7_uc011loa.1_Missense_Mutation_p.L115F	NM_001170	NP_001161	O14520	AQP7_HUMAN	aquaporin 7	246	Extracellular (Potential).				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)														---	---	---	---	capture		Silent	SNP	33385652	33385652	842	9	G	A	A	33	33	AQP7	A	2	2
GALT	2592	broad.mit.edu	37	9	34647203	34647203	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:34647203G>A	uc003zve.2	+	2	267	c.200G>A	c.(199-201)CGC>CAC	p.R67H	GALT_uc003zvf.2_5'UTR|GALT_uc003zvg.2_5'UTR|GALT_uc003zvh.2_Missense_Mutation_p.R19H|GALT_uc011lop.1_Missense_Mutation_p.R19H	NM_000155	NP_000146	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	67			R -> C (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding				0	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)										Galactosemia		OREG0019158	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	capture+wgs		Missense_Mutation	SNP	34647203	34647203	6494	9	G	A	A	38	38	GALT	A	1	1
GDA	9615	broad.mit.edu	37	9	74842874	74842874	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:74842874G>A	uc004aiq.2	+	9	1021	c.838G>A	c.(838-840)GGC>AGC	p.G280S	GDA_uc011lse.1_Missense_Mutation_p.G206S|GDA_uc011lsf.1_Missense_Mutation_p.G206S|GDA_uc004air.2_Missense_Mutation_p.G280S|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.G202S|GDA_uc004ait.1_Missense_Mutation_p.G206S	NM_004293	NP_004284	Q9Y2T3	GUAD_HUMAN	guanine deaminase	280					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			ovary(2)|central_nervous_system(2)|skin(1)	5		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)														---	---	---	---	capture+wgs		Missense_Mutation	SNP	74842874	74842874	6573	9	G	A	A	39	39	GDA	A	1	1
TRPM6	140803	broad.mit.edu	37	9	77407667	77407667	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:77407667C>G	uc004ajl.1	-	19	2649	c.2411G>C	c.(2410-2412)AGG>ACG	p.R804T	TRPM6_uc004ajk.1_Missense_Mutation_p.R799T|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel,	804	Extracellular (Potential).				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	77407667	77407667	17141	9	C	G	G	24	24	TRPM6	G	3	3
FLJ46321	389763	broad.mit.edu	37	9	84603814	84603814	+	Silent	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:84603814C>A	uc004amn.2	+	1	128	c.81C>A	c.(79-81)CCC>CCA	p.P27P		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	hypothetical protein LOC389763	27						integral to membrane					0																		---	---	---	---	capture		Silent	SNP	84603814	84603814	6174	9	C	A	A	21	21	FLJ46321	A	2	2
C9orf64	84267	broad.mit.edu	37	9	86570396	86570396	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:86570396G>C	uc004anb.2	-	2	745	c.497C>G	c.(496-498)TCT>TGT	p.S166C	C9orf64_uc004anc.2_Missense_Mutation_p.S25C	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	hypothetical protein LOC84267	166											0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	86570396	86570396	2605	9	G	C	C	33	33	C9orf64	C	3	3
WNK2	65268	broad.mit.edu	37	9	95993306	95993306	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:95993306A>T	uc004ati.1	+	3	991	c.991A>T	c.(991-993)ATC>TTC	p.I331F	WNK2_uc011lud.1_Missense_Mutation_p.I331F|WNK2_uc004atj.2_Missense_Mutation_p.I331F|WNK2_uc010mrc.1_Missense_Mutation_p.I331F|WNK2_uc010mrd.1_5'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	331	Protein kinase.				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	95993306	95993306	17952	9	A	T	T	8	8	WNK2	T	4	4
GRIN3A	116443	broad.mit.edu	37	9	104449076	104449076	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:104449076C>A	uc004bbp.1	-	2	1707	c.1106G>T	c.(1105-1107)GGT>GTT	p.G369V	GRIN3A_uc004bbq.1_Missense_Mutation_p.G369V	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic,	369	Extracellular (Potential).				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)													---	---	---	---	capture+wgs		Missense_Mutation	SNP	104449076	104449076	7062	9	C	A	A	18	18	GRIN3A	A	2	2
ABCA1	19	broad.mit.edu	37	9	107602611	107602611	+	Nonsense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:107602611C>A	uc004bcl.2	-	9	1316	c.1003G>T	c.(1003-1005)GGA>TGA	p.G335*		NM_005502	NP_005493	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A member 1	335	Extracellular.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)													---	---	---	---	capture+wgs		Nonsense_Mutation	SNP	107602611	107602611	29	9	C	A	A	21	21	ABCA1	A	5	2
TMEM38B	55151	broad.mit.edu	37	9	108536277	108536277	+	Silent	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:108536277C>A	uc004bcu.1	+	6	909	c.792C>A	c.(790-792)TCC>TCA	p.S264S	TMEM38B_uc010mtn.1_3'UTR	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	264	Cytoplasmic (Potential).					integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			ovary(1)|skin(1)	2																		---	---	---	---	capture		Silent	SNP	108536277	108536277	16699	9	C	A	A	21	21	TMEM38B	A	2	2
TLR8	51311	broad.mit.edu	37	X	12937472	12937472	+	Nonsense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:12937472G>T	uc004cve.2	+	2	381	c.313G>T	c.(313-315)GGA>TGA	p.G105*	TLR8_uc004cvd.2_Nonsense_Mutation_p.G123*	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	toll-like receptor 8 precursor	105	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		Nonsense_Mutation	SNP	12937472	12937472	16487	23	G	T	T	39	39	TLR8	T	5	1
MTMR8	55613	broad.mit.edu	37	X	63568544	63568544	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:63568544G>T	uc004dvs.2	-	6	796	c.728C>A	c.(727-729)CCA>CAA	p.P243Q	MTMR8_uc011mou.1_Missense_Mutation_p.P243Q|MTMR8_uc004dvt.1_Missense_Mutation_p.P243Q	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	243	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity			ovary(2)|breast(2)	4																		---	---	---	---	capture		Missense_Mutation	SNP	63568544	63568544	10342	23	G	T	T	47	47	MTMR8	T	2	2
TAF1	6872	broad.mit.edu	37	X	70678145	70678145	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:70678145G>T	uc004dzu.3	+	35	5041	c.4990G>T	c.(4990-4992)GTA>TTA	p.V1664L	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.V1685L|TAF1_uc004dzv.3_Missense_Mutation_p.V838L|TAF1_uc010nle.1_RNA|TAF1_uc010nlf.1_Missense_Mutation_p.V89L|TAF1_uc004dzx.2_RNA|TAF1_uc004dzy.2_RNA|TAF1_uc004dzw.1_RNA|TAF1_uc010nlg.1_5'Flank	NM_138923	NP_620278	P21675	TAF1_HUMAN	TBP-associated factor 1 isoform 2	1664	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17	Renal(35;0.156)	all_lung(315;0.000321)																---	---	---	---	capture+wgs		Missense_Mutation	SNP	70678145	70678145	16034	23	G	T	T	48	48	TAF1	T	2	2
PCDH19	57526	broad.mit.edu	37	X	99663159	99663159	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:99663159G>A	uc010nmz.2	-	1	2113	c.437C>T	c.(436-438)ACG>ATG	p.T146M	PCDH19_uc004efw.3_Missense_Mutation_p.T146M|PCDH19_uc004efx.3_Missense_Mutation_p.T146M	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN	protocadherin 19 isoform b	146	Cadherin 2.|Extracellular (Potential).		T -> R (in EIEE9).		homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	99663159	99663159	11934	23	G	A	A	40	40	PCDH19	A	1	1
XIAP	331	broad.mit.edu	37	X	123020331	123020331	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:123020331G>A	uc010nqu.2	+	2	945	c.819G>A	c.(817-819)GGG>GGA	p.G273G	XIAP_uc004etx.2_Silent_p.G273G|XIAP_uc010nqv.2_Intron	NM_001167	NP_001158	P98170	XIAP_HUMAN	baculoviral IAP repeat-containing protein 4	273	BIR 3.				anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			ovary(1)|lung(1)	2														X-linked_Lymphoproliferative_syndrome				---	---	---	---	capture+wgs		Silent	SNP	123020331	123020331	18009	23	G	A	A	41	41	XIAP	A	2	2
MAGEC1	9947	broad.mit.edu	37	X	140995599	140995599	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:140995599G>T	uc004fbt.2	+	4	2695	c.2409G>T	c.(2407-2409)GAG>GAT	p.E803D	MAGEC1_uc010nsl.1_Intron	NM_005462	NP_005453	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	803							protein binding			ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4	Acute lymphoblastic leukemia(192;6.56e-05)														HNSCC(15;0.026)			---	---	---	---	capture		Missense_Mutation	SNP	140995599	140995599	9561	23	G	T	T	35	35	MAGEC1	T	2	2
PLXNA3	55558	broad.mit.edu	37	X	153695707	153695707	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:153695707C>A	uc004flm.2	+	19	3507	c.3334C>A	c.(3334-3336)CGC>AGC	p.R1112S		NM_017514	NP_059984	P51805	PLXA3_HUMAN	plexin A3 precursor	1112	IPT/TIG 3.|Extracellular (Potential).				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)																	---	---	---	---	capture		Missense_Mutation	SNP	153695707	153695707	12547	23	C	A	A	23	23	PLXNA3	A	1	1
PCDH11Y	83259	broad.mit.edu	37	Y	4925417	4925417	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01									Somatic	Phase_I	Capture				Illumina GAIIx	g.chrY:4925417G>C	uc004fqo.2	+	1	1287	c.553G>C	c.(553-555)GCT>CCT	p.A185P	PCDH11Y_uc010nwg.1_Missense_Mutation_p.A174P|PCDH11Y_uc004fql.1_Missense_Mutation_p.A174P|PCDH11Y_uc004fqm.1_Missense_Mutation_p.A174P|PCDH11Y_uc004fqn.1_Missense_Mutation_p.A185P	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked isoform c	185	Extracellular (Potential).|Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding				0																		---	---	---	---	capture+wgs		Missense_Mutation	SNP	4925417	4925417	11929	24	G	C	C	42	42	PCDH11Y	C	3	3
GPR123	84435	broad.mit.edu	37	10	134885528	134885528	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:134885528G>A	uc001llw.2	+			c.287G>A	c.(286-288)AGA>AAA	p.R96K		GPR123		Q86SQ6	GP123_HUMAN	RecName: Full=Probable G-protein coupled receptor 123;	Error:Variant_position_missing_in_Q86SQ6_after_alignment						integral to membrane|plasma membrane	G-protein coupled receptor activity				0		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)														---	---	---	---	wgs		Missense_Mutation	SNP	134885528	134885528	6911	10	G	A	A	33	33	GPR123	A	2	2
AGAP5	729092	broad.mit.edu	37	10	75457404	75457404	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75457404C>T	uc009xri.2	-			c.110G>A	c.(109-111)GGG>GAG	p.G37E	AGAP5_uc001juu.3_5'UTR	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	37					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0																		---	---	---	---	wgs		Missense_Mutation	SNP	75457404	75457404	373	10	C	T	T	22	22	AGAP5	T	2	2
AGAP5	729092	broad.mit.edu	37	10	75457454	75457454	+	Silent	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr10:75457454T>C	uc009xri.2	-			c.60A>G	c.(58-60)CAA>CAG	p.Q20Q	AGAP5_uc001juu.3_5'UTR	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH	20					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding				0																		---	---	---	---	wgs		Silent	SNP	75457454	75457454	373	10	T	C	C	60	60	AGAP5	C	4	4
OR10G9	219870	broad.mit.edu	37	11	123893801	123893801	+	Missense_Mutation	SNP	A	G	G	rs74791330		TCGA-43-3920-01	TCGA-43-3920-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:123893801A>G	uc010sad.1	+			c.82A>G	c.(82-84)ATC>GTC	p.I28V		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G,	28	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		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;0.0399)														---	---	---	---	wgs		Missense_Mutation	SNP	123893801	123893801	11310	11	A	G	G	4	4	OR10G9	G	4	4
MUC5B	727897	broad.mit.edu	37	11	1264717	1264717	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:1264717C>T	uc009ycr.1	+			c.8521C>T	c.(8521-8523)CCC>TCC	p.P2841S	MUC5B_uc001ltb.2_Missense_Mutation_p.P2206S	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN	SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;	2203	7 X Cys-rich subdomain repeats.|Thr-rich.			P -> S (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding				0		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)														---	---	---	---	wgs		Missense_Mutation	SNP	1264717	1264717	10373	11	C	T	T	26	26	MUC5B	T	2	2
NFRKB	4798	broad.mit.edu	37	11	129747276	129747276	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:129747276T>C	uc001qfg.2	-			c.1591A>G	c.(1591-1593)ACT>GCT	p.T531A	NFRKB_uc001qfi.2_Missense_Mutation_p.T506A|NFRKB_uc001qfh.2_Missense_Mutation_p.T529A|NFRKB_uc010sbw.1_Missense_Mutation_p.T516A|NFRKB_uc009zcr.2_5'Flank	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	506					inflammatory response|transcription from RNA polymerase II promoter	nucleus	DNA binding|protease binding|specific RNA polymerase II transcription factor activity			ovary(3)	3	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)														---	---	---	---	wgs		Missense_Mutation	SNP	129747276	129747276	10784	11	T	C	C	60	60	NFRKB	C	4	4
SIGIRR	59307	broad.mit.edu	37	11	406903	406903	+	Silent	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:406903G>C	uc001lpd.2	-			c.819C>G	c.(817-819)CTC>CTG	p.L273L	SIGIRR_uc001lpf.2_Silent_p.L273L|SIGIRR_uc001lpe.1_Silent_p.L273L|SIGIRR_uc001lpg.2_Silent_p.L273L	NM_001135054	NP_001128526	Q6IA17	SIGIR_HUMAN	single Ig IL-1R-related molecule	273	Cytoplasmic (Potential).|TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity				0		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)														---	---	---	---	wgs		Silent	SNP	406903	406903	14799	11	G	C	C	41	41	SIGIRR	C	3	3
OR52K1	390036	broad.mit.edu	37	11	4510620	4510620	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:4510620C>T	uc001lza.1	+			c.490C>T	c.(490-492)CTG>TTG	p.L164L		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K,	164	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)														---	---	---	---	wgs		Silent	SNP	4510620	4510620	11533	11	C	T	T	24	24	OR52K1	T	2	2
IGHMBP2	3508	broad.mit.edu	37	11	68702826	68702826	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:68702826C>T	uc001ook.1	+			c.1692C>T	c.(1690-1692)GTC>GTT	p.V564V	IGHMBP2_uc001ool.1_Silent_p.V188V|IGHMBP2_uc001oom.1_Silent_p.V142V	NM_002180	NP_002171	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	564					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)															---	---	---	---	wgs		Silent	SNP	68702826	68702826	7892	11	C	T	T	31	31	IGHMBP2	T	1	1
TRIM77	390231	broad.mit.edu	37	11	89449065	89449065	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr11:89449065T>A	uc010rtw.1	+			c.769T>A	c.(769-771)TTT>ATT	p.F257I		NM_001146162	NP_001139634			tripartite motif-containing 77												0																		---	---	---	---	wgs		Missense_Mutation	SNP	89449065	89449065	17097	11	T	A	A	60	60	TRIM77	A	4	4
CLEC2B	9976	broad.mit.edu	37	12	10007029	10007029	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:10007029C>T	uc001qwn.2	-			c.292G>A	c.(292-294)GCA>ACA	p.A98T		NM_005127	NP_005118	Q92478	CLC2B_HUMAN	C-type lectin, superfamily member 2	98	C-type lectin.|Extracellular (Potential).					integral to plasma membrane	sugar binding				0																		---	---	---	---	wgs		Missense_Mutation	SNP	10007029	10007029	3645	12	C	T	T	26	26	CLEC2B	T	2	2
PRB2	653247	broad.mit.edu	37	12	11546817	11546817	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:11546817G>A	uc010shk.1	-			c.195C>T	c.(193-195)GGC>GGT	p.G65G		NM_006248	NP_006239			proline-rich protein BstNI subfamily 2												0		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)															---	---	---	---	wgs		Silent	SNP	11546817	11546817	12885	12	G	A	A	46	46	PRB2	A	2	2
DDX11	1663	broad.mit.edu	37	12	31237982	31237982	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:31237982T>C	uc001rjt.1	+			c.560T>C	c.(559-561)CTG>CCG	p.L187P	DDX11_uc010sjw.1_Missense_Mutation_p.L187P|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.L187P|DDX11_uc001rjs.1_Missense_Mutation_p.L187P|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.L187P|DDX11_uc001rjw.1_Missense_Mutation_p.L161P|DDX11_uc001rjx.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11	187	Glu-rich.|Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(3)	3	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)																	---	---	---	---	wgs	Multiple Myeloma(12;0.14)	Missense_Mutation	SNP	31237982	31237982	4514	12	T	C	C	55	55	DDX11	C	4	4
SLC38A1	81539	broad.mit.edu	37	12	46594941	46594941	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:46594941A>T	uc009zkj.1	-			c.943T>A	c.(943-945)TTT>ATT	p.F315I	SLC38A1_uc001rpb.2_Missense_Mutation_p.F315I|SLC38A1_uc001rpc.2_Missense_Mutation_p.F315I|SLC38A1_uc001rpd.2_Missense_Mutation_p.F315I|SLC38A1_uc001rpe.2_Missense_Mutation_p.F315I|SLC38A1_uc010slh.1_Missense_Mutation_p.F288I|SLC38A1_uc001rpa.2_Missense_Mutation_p.F315I	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	amino acid transporter system A1	315	Helical; (Potential).				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			ovary(2)|central_nervous_system(1)	3	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)															---	---	---	---	wgs		Missense_Mutation	SNP	46594941	46594941	15098	12	A	T	T	3	3	SLC38A1	T	4	4
FAM186A	121006	broad.mit.edu	37	12	50746022	50746022	+	Silent	SNP	C	G	G	rs7304692		TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50746022C>G	uc001rwl.2	-			c.4593G>C	c.(4591-4593)CTG>CTC	p.L1531L	FAM186A_uc010smt.1_Silent_p.L1309L	NM_001145475	NP_001138947	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1531											0																		---	---	---	---	wgs		Silent	SNP	50746022	50746022	5721	12	C	G	G	29	29	FAM186A	G	3	3
FAM186A	121006	broad.mit.edu	37	12	50746094	50746094	+	Silent	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:50746094G>C	uc001rwl.2	-			c.4521C>G	c.(4519-4521)CTC>CTG	p.L1507L	FAM186A_uc010smt.1_Silent_p.L1285L	NM_001145475	NP_001138947	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1507											0																		---	---	---	---	wgs		Silent	SNP	50746094	50746094	5721	12	G	C	C	45	45	FAM186A	C	3	3
HOXC11	3227	broad.mit.edu	37	12	54367702	54367702	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:54367702C>A	uc001sem.2	+			c.677C>A	c.(676-678)GCC>GAC	p.A226D		NM_014212	NP_055027	O43248	HXC11_HUMAN	homeobox C11	226					endoderm development|regulation of transcription, DNA-dependent	nucleus	RNA polymerase II transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity				0																		---	---	---	---	wgs		Missense_Mutation	SNP	54367702	54367702	7602	12	C	A	A	26	26	HOXC11	A	2	2
DYRK2	8445	broad.mit.edu	37	12	68043651	68043651	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:68043651G>T	uc001str.3	+			c.124G>T	c.(124-126)GTG>TTG	p.V42L	DYRK2_uc001sts.3_Intron	NM_006482	NP_006473	Q92630	DYRK2_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	42					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|protein phosphorylation	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)														---	---	---	---	wgs		Missense_Mutation	SNP	68043651	68043651	5042	12	G	T	T	36	36	DYRK2	T	2	2
PTPRQ	374462	broad.mit.edu	37	12	80889087	80889087	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80889087A>G	uc001sze.2	+			c.1819A>G	c.(1819-1821)ATG>GTG	p.M607V		NM_001145026	NP_001138498			protein tyrosine phosphatase, receptor type, Q												0																		---	---	---	---	wgs		Missense_Mutation	SNP	80889087	80889087	13267	12	A	G	G	4	4	PTPRQ	G	4	4
PTPRQ	374462	broad.mit.edu	37	12	80890265	80890265	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr12:80890265G>T	uc001sze.2	+			c.2227G>T	c.(2227-2229)GGC>TGC	p.G743C		NM_001145026	NP_001138498			protein tyrosine phosphatase, receptor type, Q												0																		---	---	---	---	wgs		Missense_Mutation	SNP	80890265	80890265	13267	12	G	T	T	47	47	PTPRQ	T	2	2
LOC643677	643677	broad.mit.edu	37	13	103398886	103398886	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:103398886C>G	uc001vpm.2	-			c.4161G>C	c.(4159-4161)AAG>AAC	p.K1387N		NM_001146197	NP_001139669			hypothetical protein LOC643677												0																		---	---	---	---	wgs		Missense_Mutation	SNP	103398886	103398886	9242	13	C	G	G	32	32	LOC643677	G	3	3
LOC643677	643677	broad.mit.edu	37	13	103400029	103400029	+	Silent	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:103400029T>C	uc001vpm.2	-			c.3018A>G	c.(3016-3018)ACA>ACG	p.T1006T		NM_001146197	NP_001139669			hypothetical protein LOC643677												0																		---	---	---	---	wgs		Silent	SNP	103400029	103400029	9242	13	T	C	C	63	63	LOC643677	C	4	4
UPF3A	65110	broad.mit.edu	37	13	115047496	115047496	+	Missense_Mutation	SNP	G	C	C	rs76186578	by1000genomes	TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:115047496G>C	uc001vup.2	+			c.208G>C	c.(208-210)GTG>CTG	p.V70L	UPF3A_uc010tkn.1_Missense_Mutation_p.V70L|UPF3A_uc001vuq.2_Missense_Mutation_p.V70L|UPF3A_uc001vus.2_Non-coding_Transcript|UPF3A_uc001vur.2_Non-coding_Transcript	NM_023011	NP_075387	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A	70					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding				0	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)														---	---	---	---	wgs		Missense_Mutation	SNP	115047496	115047496	17565	13	G	C	C	44	44	UPF3A	C	3	3
PARP4	143	broad.mit.edu	37	13	25052393	25052393	+	Missense_Mutation	SNP	G	T	T	rs79107024	by1000genomes	TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr13:25052393G>T	uc001upl.2	-			c.1470C>A	c.(1468-1470)CAC>CAA	p.H490Q	PARP4_uc010tdc.1_Missense_Mutation_p.H490Q	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	490	PARP catalytic.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			ovary(3)	3		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)														---	---	---	---	wgs		Missense_Mutation	SNP	25052393	25052393	11880	13	G	T	T	44	44	PARP4	T	2	2
WDR25	79446	broad.mit.edu	37	14	100995529	100995529	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr14:100995529G>A	uc010avx.2	+			c.1397G>A	c.(1396-1398)CGC>CAC	p.R466H	WDR25_uc001yhm.2_Missense_Mutation_p.R458H|WDR25_uc001yhn.2_Missense_Mutation_p.R466H|WDR25_uc010avy.2_Non-coding_Transcript|WDR25_uc001yho.2_Missense_Mutation_p.R209H	NM_001161476	NP_001154948	Q64LD2	WDR25_HUMAN	WD repeat domain 25	466											0		Melanoma(154;0.212)																---	---	---	---	wgs		Missense_Mutation	SNP	100995529	100995529	17855	14	G	A	A	38	38	WDR25	A	1	1
MKRN3	7681	broad.mit.edu	37	15	23811537	23811537	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:23811537C>T	uc001ywh.3	+			c.608C>T	c.(607-609)GCC>GTC	p.A203V	MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.A203V	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	203						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			large_intestine(2)|ovary(2)	4		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)														---	---	---	---	wgs		Missense_Mutation	SNP	23811537	23811537	9998	15	C	T	T	26	26	MKRN3	T	2	2
APBA2	321	broad.mit.edu	37	15	29346830	29346830	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:29346830C>A	uc001zck.2	+			c.743C>A	c.(742-744)GCC>GAC	p.A248D	APBA2_uc010azj.2_Missense_Mutation_p.A248D|APBA2_uc010uat.1_Missense_Mutation_p.A248D|APBA2_uc001zcl.2_Missense_Mutation_p.A248D|APBA2_uc010uas.1_Missense_Mutation_p.A248D	NM_005503	NP_005494	Q99767	APBA2_HUMAN	amyloid beta A4 precursor protein-binding,	248	STXBP1-binding.				nervous system development|protein transport		protein binding				0		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)														---	---	---	---	wgs		Missense_Mutation	SNP	29346830	29346830	767	15	C	A	A	26	26	APBA2	A	2	2
GOLGA6C	653641	broad.mit.edu	37	15	75557477	75557477	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr15:75557477A>T	uc002azs.1	+			c.543A>T	c.(541-543)AGA>AGT	p.R181S		NM_001145224	NP_001138696	A6NDK9	GOG6C_HUMAN	golgi autoantigen, golgin subfamily a, 6D	193	Potential.									ovary(1)	1																		---	---	---	---	wgs		Missense_Mutation	SNP	75557477	75557477	6828	15	A	T	T	11	11	GOLGA6C	T	4	4
PKD1L3	342372	broad.mit.edu	37	16	72013759	72013759	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr16:72013759G>T	uc010vmm.1	-			c.1324C>A	c.(1324-1326)CCT>ACT	p.P442T		NM_181536	NP_853514			polycystin 1-like 3 precursor												0																		---	---	---	---	wgs		Missense_Mutation	SNP	72013759	72013759	12390	16	G	T	T	43	43	PKD1L3	T	2	2
TBC1D29	26083	broad.mit.edu	37	17	28887667	28887667	+	Silent	SNP	T	C	C	rs78888987		TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:28887667T>C	uc002hfh.2	+			c.111T>C	c.(109-111)GAT>GAC	p.D37D	TBC1D29_uc002hfi.2_Non-coding_Transcript	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	37	Rab-GAP TBC; truncated.					intracellular	Rab GTPase activator activity				0		Myeloproliferative disorder(56;0.0255)																---	---	---	---	wgs		Silent	SNP	28887667	28887667	16140	17	T	C	C	49	49	TBC1D29	C	4	4
KRTAP4-11	653240	broad.mit.edu	37	17	39274157	39274157	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39274157G>A	uc002hvz.2	-			c.411C>T	c.(409-411)CCC>CCT	p.P137P		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	137	23.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)															---	---	---	---	wgs		Silent	SNP	39274157	39274157	8871	17	G	A	A	47	47	KRTAP4-11	A	2	2
KRTAP4-11	653240	broad.mit.edu	37	17	39274415	39274415	+	Silent	SNP	C	T	T	rs425487		TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39274415C>T	uc002hvz.2	-			c.153G>A	c.(151-153)AGG>AGA	p.R51R		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	6.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament					0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)															---	---	---	---	wgs		Silent	SNP	39274415	39274415	8871	17	C	T	T	26	26	KRTAP4-11	T	2	2
KRTAP9-2	83899	broad.mit.edu	37	17	39383172	39383172	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:39383172C>T	uc002hwf.2	+			c.266C>T	c.(265-267)ACC>ATC	p.T89I		NM_031961	NP_114167	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9.2	89	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].|11.					keratin filament	protein binding				0		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)															---	---	---	---	wgs		Missense_Mutation	SNP	39383172	39383172	8896	17	C	T	T	18	18	KRTAP9-2	T	2	2
CDC27	996	broad.mit.edu	37	17	45234359	45234359	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:45234359T>A	uc002ile.3	-			c.762A>T	c.(760-762)TTA>TTT	p.L254F	CDC27_uc002ild.3_Missense_Mutation_p.L254F|CDC27_uc002ilf.3_Missense_Mutation_p.L254F|CDC27_uc010wkp.1_Missense_Mutation_p.L193F|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	cell division cycle protein 27 isoform 1	254					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|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	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein binding			lung(2)|breast(2)|ovary(1)	5																		---	---	---	---	wgs		Missense_Mutation	SNP	45234359	45234359	3194	17	T	A	A	49	49	CDC27	A	4	4
HOXB2	3212	broad.mit.edu	37	17	46621899	46621899	+	Silent	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:46621899C>A	uc002inm.2	-			c.375G>T	c.(373-375)GGG>GGT	p.G125G		NM_002145	NP_002136	P14652	HXB2_HUMAN	homeobox B2	125					blood circulation|regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulator activity				0																		---	---	---	---	wgs		Silent	SNP	46621899	46621899	7593	17	C	A	A	22	22	HOXB2	A	2	2
CLTC	1213	broad.mit.edu	37	17	57697515	57697515	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:57697515G>T	uc002ixr.1	+			c.23G>T	c.(22-24)CGT>CTT	p.R8L	CLTC_uc002ixp.2_Missense_Mutation_p.R8L|CLTC_uc002ixq.1_Missense_Mutation_p.R8L	NM_004859	NP_004850	Q00610	CLH1_HUMAN	clathrin heavy chain 1	8	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)	47	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)																	---	---	---	---	wgs		Missense_Mutation	SNP	57697515	57697515	3704	17	G	T	T	40	40	CLTC	T	1	1
INTS2	57508	broad.mit.edu	37	17	59975069	59975069	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:59975069A>G	uc002izn.2	-			c.1363T>C	c.(1363-1365)TGG>CGG	p.W455R	INTS2_uc002izm.2_Missense_Mutation_p.W447R	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	455					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			ovary(1)|lung(1)|pancreas(1)	3																		---	---	---	---	wgs		Missense_Mutation	SNP	59975069	59975069	8079	17	A	G	G	6	6	INTS2	G	4	4
AMAC1L3	643664	broad.mit.edu	37	17	7386217	7386217	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:7386217T>C	uc010cmj.1	+			c.914T>C	c.(913-915)GTG>GCG	p.V305A	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	305	DUF6 2.					integral to membrane					0		Prostate(122;0.173)																---	---	---	---	wgs		Missense_Mutation	SNP	7386217	7386217	564	17	T	C	C	59	59	AMAC1L3	C	4	4
LOC283999	283999	broad.mit.edu	37	17	76235217	76235217	+	Missense_Mutation	SNP	C	T	T	rs61742094	by1000genomes	TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr17:76235217C>T	uc002jvk.2	+			c.991C>T	c.(991-993)CGG>TGG	p.R331W	LOC283999_uc010dhm.1_Missense_Mutation_p.R285W	NM_001145529	NP_001139001	A6NFC5	TM235_HUMAN	hypothetical protein LOC283999	Error:Variant_position_missing_in_A6NFC5_after_alignment						integral to membrane|tight junction	structural molecule activity				0																		---	---	---	---	wgs		Missense_Mutation	SNP	76235217	76235217	9214	17	C	T	T	31	31	LOC283999	T	1	1
POTEC	388468	broad.mit.edu	37	18	14542693	14542693	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:14542693C>T	uc010dln.2	-			c.453G>A	c.(451-453)AAG>AAA	p.K151K	POTEC_uc010xaj.1_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	ANKRD26-like family B, member 2	151	ANK 1.										0																		---	---	---	---	wgs		Silent	SNP	14542693	14542693	12692	18	C	T	T	24	24	POTEC	T	2	2
ARHGAP28	79822	broad.mit.edu	37	18	6859824	6859824	+	Silent	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:6859824C>G	uc002knc.2	+			c.498C>G	c.(496-498)CTC>CTG	p.L166L	ARHGAP28_uc002knd.2_Silent_p.L59L|ARHGAP28_uc002kne.2_Silent_p.L59L|ARHGAP28_uc010wzi.1_Intron|ARHGAP28_uc002knf.2_Silent_p.L50L	NM_030672	NP_109597	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28 isoform b	Error:Variant_position_missing_in_B4DXL2_after_alignment					signal transduction	intracellular				pancreas(1)	1		Colorectal(10;0.168)																---	---	---	---	wgs		Silent	SNP	6859824	6859824	889	18	C	G	G	29	29	ARHGAP28	G	3	3
NDUFV2	4729	broad.mit.edu	37	18	9122591	9122591	+	Silent	SNP	T	C	C	rs76552443	by1000genomes	TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9122591T>C	uc002knu.2	+			c.381T>C	c.(379-381)GTT>GTC	p.V127V		NM_021074	NP_066552	P19404	NDUV2_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 2	127					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			ovary(1)	1					NADH(DB00157)													---	---	---	---	wgs		Silent	SNP	9122591	9122591	10699	18	T	C	C	63	63	NDUFV2	C	4	4
NDUFV2	4729	broad.mit.edu	37	18	9122611	9122611	+	Missense_Mutation	SNP	T	C	C	rs72935225	byFrequency;by1000genomes	TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr18:9122611T>C	uc002knu.2	+			c.401T>C	c.(400-402)GTC>GCC	p.V134A		NM_021074	NP_066552	P19404	NDUV2_HUMAN	NADH dehydrogenase ubiquinone flavoprotein 2	134					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			ovary(1)	1					NADH(DB00157)													---	---	---	---	wgs		Missense_Mutation	SNP	9122611	9122611	10699	18	T	C	C	58	58	NDUFV2	C	4	4
FAM108A1	81926	broad.mit.edu	37	19	1881263	1881263	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:1881263G>A	uc002luf.2	-			c.303C>T	c.(301-303)TGC>TGT	p.C101C	FAM108A1_uc002lud.2_Silent_p.C101C|FAM108A1_uc002lue.2_Silent_p.C101C|FAM108A1_uc002lug.2_Silent_p.C101C	NM_031213	NP_112490	Q96GS6	F18A1_HUMAN	hypothetical protein LOC81926 isoform 1	95						extracellular region	hydrolase activity				0		Ovarian(11;0.000137)		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)														---	---	---	---	wgs		Silent	SNP	1881263	1881263	5588	19	G	A	A	46	46	FAM108A1	A	2	2
TM6SF2	53345	broad.mit.edu	37	19	19383933	19383933	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:19383933G>C	uc002nmd.1	-			c.92C>G	c.(91-93)TCG>TGG	p.S31W	HAPLN4_uc002nmc.2_5'UTR	NM_001001524	NP_001001524	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	31						integral to membrane					0			Epithelial(12;0.0151)															---	---	---	---	wgs		Missense_Mutation	SNP	19383933	19383933	16503	19	G	C	C	37	37	TM6SF2	C	3	3
ZNF536	9745	broad.mit.edu	37	19	30935231	30935231	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:30935231G>A	uc002nsu.1	+			c.762G>A	c.(760-762)CCG>CCA	p.P254P	ZNF536_uc010edd.1_Silent_p.P254P	NM_014717	NP_055532	O15090	ZN536_HUMAN	zinc finger protein 536	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			ovary(7)|large_intestine(2)	9	Esophageal squamous(110;0.0834)																	---	---	---	---	wgs		Silent	SNP	30935231	30935231	18568	19	G	A	A	39	39	ZNF536	A	1	1
ZNF570	148268	broad.mit.edu	37	19	37961251	37961251	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:37961251G>C	uc010efl.1	+			c.163G>C	c.(163-165)GAA>CAA	p.E55Q	ZNF569_uc002ogi.2_5'Flank|ZNF569_uc002ogj.2_5'Flank|ZNF570_uc002ogk.1_5'UTR|ZNF570_uc010xtr.1_Intron	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	zinc finger protein 570	Error:Variant_position_missing_in_Q96NI8_after_alignment					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)															---	---	---	---	wgs		Missense_Mutation	SNP	37961251	37961251	18597	19	G	C	C	33	33	ZNF570	C	3	3
BCAM	4059	broad.mit.edu	37	19	45321781	45321781	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:45321781C>T	uc002ozu.2	+			c.1081C>T	c.(1081-1083)CTG>TTG	p.L361L	BCAM_uc002ozt.1_Silent_p.L361L	NM_005581	NP_005572	P50895	BCAM_HUMAN	basal cell adhesion molecule isoform 1	361	Extracellular (Potential).				cell-matrix adhesion	external side of plasma membrane|integral to plasma membrane	laminin binding|laminin receptor activity				0	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)																---	---	---	---	wgs		Silent	SNP	45321781	45321781	1365	19	C	T	T	32	32	BCAM	T	2	2
SNRPD2	6633	broad.mit.edu	37	19	46190852	46190852	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:46190852C>A	uc002pcw.2	-			c.316G>T	c.(316-318)GTC>TTC	p.V106F	SNRPD2_uc002pcv.2_Missense_Mutation_p.V96F	NM_004597	NP_004588	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 isoform 1	106					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding				0		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)														---	---	---	---	wgs		Missense_Mutation	SNP	46190852	46190852	15365	19	C	A	A	20	20	SNRPD2	A	2	2
VN1R4	317703	broad.mit.edu	37	19	53770649	53770649	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:53770649G>T	uc010ydu.1	-			c.270C>A	c.(268-270)GGC>GGA	p.G90G		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	90	Helical; Name=3; (Potential).				response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			ovary(2)	2				GBM - Glioblastoma multiforme(134;0.00294)														---	---	---	---	wgs		Silent	SNP	53770649	53770649	17747	19	G	T	T	46	46	VN1R4	T	2	2
LILRB2	10288	broad.mit.edu	37	19	54780769	54780769	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:54780769G>C	uc002qfb.2	-			c.1375C>G	c.(1375-1377)CTG>GTG	p.L459V	LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.L459V|LILRB2_uc010erj.2_Non-coding_Transcript|LILRB2_uc002qfc.2_Missense_Mutation_p.L458V|LILRB2_uc010yet.1_Missense_Mutation_p.L343V	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor,	459	Extracellular (Potential).				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity				0	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)														---	---	---	---	wgs		Missense_Mutation	SNP	54780769	54780769	9117	19	G	C	C	35	35	LILRB2	C	3	3
PPP1R12C	54776	broad.mit.edu	37	19	55602858	55602858	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr19:55602858G>A	uc002qix.2	-			c.2331C>T	c.(2329-2331)ATC>ATT	p.I777I	PPP1R12C_uc010yfs.1_Silent_p.I702I|PPP1R12C_uc002qiy.2_Silent_p.I775I	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	777	Potential.					cytoplasm				central_nervous_system(1)	1			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)														---	---	---	---	wgs		Silent	SNP	55602858	55602858	12791	19	G	A	A	45	45	PPP1R12C	A	2	2
NBPF10	100132406	broad.mit.edu	37	1	145360608	145360608	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:145360608T>A	uc001end.3	+			c.9458T>A	c.(9457-9459)CTG>CAG	p.L3153Q	NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc010oyq.1_Intron|NBPF10_uc010oyr.1_Missense_Mutation_p.L451Q	NM_001039703	NP_001034792			hypothetical protein LOC100132406												0	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)														---	---	---	---	wgs		Missense_Mutation	SNP	145360608	145360608	10589	1	T	A	A	55	55	NBPF10	A	4	4
LOC200030	200030	broad.mit.edu	37	1	148344722	148344722	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:148344722G>C	uc001eqf.2	-			c.196C>G	c.(196-198)CTC>GTC	p.L66V	LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|NBPF14_uc009wkf.1_Intron	NM_017940	NP_060410	Q86T75	NBPFB_HUMAN	hypothetical protein LOC55672	66						cytoplasm					0																		---	---	---	---	wgs		Missense_Mutation	SNP	148344722	148344722	9211	1	G	C	C	35	35	LOC200030	C	3	3
FLG	2312	broad.mit.edu	37	1	152281635	152281635	+	Missense_Mutation	SNP	C	A	A	rs112627337		TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:152281635C>A	uc001ezu.1	-			c.5727G>T	c.(5725-5727)AGG>AGT	p.R1909S		NM_002016	NP_002007	P20930	FILA_HUMAN	filaggrin	1909	Ser-rich.|Filaggrin 11.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			ovary(9)	9	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)															---	---	---	---	wgs		Missense_Mutation	SNP	152281635	152281635	6160	1	C	A	A	30	30	FLG	A	2	2
CLCNKB	1188	broad.mit.edu	37	1	16377477	16377477	+	Silent	SNP	G	T	T	rs13306237		TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16377477G>T	uc001axw.3	+			c.1161G>T	c.(1159-1161)CTG>CTT	p.L387L	FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Silent_p.L387L|CLCNKB_uc001axy.3_Silent_p.L218L	NM_000085	NP_000076	P51801	CLCKB_HUMAN	chloride channel Kb isoform 1	387					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity				0		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	wgs		Silent	SNP	16377477	16377477	3606	1	G	T	T	48	48	CLCNKB	T	2	2
ARHGEF19	128272	broad.mit.edu	37	1	16533698	16533698	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:16533698G>A	uc001ayc.1	-			c.882C>T	c.(880-882)CTC>CTT	p.L294L	ARHGEF19_uc009voo.1_5'UTR|ARHGEF19_uc001ayb.1_5'UTR	NM_153213	NP_694945	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	294					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			skin(2)|ovary(1)	3		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	wgs		Silent	SNP	16533698	16533698	916	1	G	A	A	33	33	ARHGEF19	A	2	2
ZBTB37	84614	broad.mit.edu	37	1	173854880	173854880	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:173854880A>G	uc009wwp.1	+			c.1130A>G	c.(1129-1131)TAT>TGT	p.Y377C	ZBTB37_uc001gjp.1_3'UTR|ZBTB37_uc001gjr.2_Missense_Mutation_p.Y377C	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37 isoform	377	C2H2-type 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	wgs		Missense_Mutation	SNP	173854880	173854880	18124	1	A	G	G	16	16	ZBTB37	G	4	4
KLHDC7A	127707	broad.mit.edu	37	1	18809240	18809240	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:18809240G>A	uc001bax.2	+			c.1765G>A	c.(1765-1767)GGG>AGG	p.G589R	KLHDC7A_uc009vpg.2_Missense_Mutation_p.G371R	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	589	Kelch 3.					integral to membrane				ovary(2)	2		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)														---	---	---	---	wgs		Missense_Mutation	SNP	18809240	18809240	8672	1	G	A	A	39	39	KLHDC7A	A	1	1
PIGR	5284	broad.mit.edu	37	1	207112735	207112735	+	Silent	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:207112735C>G	uc001hez.2	-			c.117G>C	c.(115-117)ACG>ACC	p.T39T	PIGR_uc009xbz.2_Silent_p.T39T	NM_002644	NP_002635	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor precursor	39	Ig-like V-type 1.|Extracellular (Potential).					extracellular region|integral to plasma membrane	protein binding			ovary(1)|central_nervous_system(1)	2																		---	---	---	---	wgs		Silent	SNP	207112735	207112735	12321	1	C	G	G	19	19	PIGR	G	3	3
OR2T2	401992	broad.mit.edu	37	1	248616510	248616510	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:248616510A>G	uc001iek.1	+			c.412A>G	c.(412-414)AAC>GAC	p.N138D		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T,	138	Cytoplasmic (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)															---	---	---	---	wgs		Missense_Mutation	SNP	248616510	248616510	11426	1	A	G	G	9	9	OR2T2	G	4	4
TNFRSF14	8764	broad.mit.edu	37	1	2491346	2491346	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:2491346A>G	uc001ajr.2	+			c.389A>G	c.(388-390)CAG>CGG	p.Q130R	TNFRSF14_uc009vlf.1_Missense_Mutation_p.Q130R|TNFRSF14_uc001ajt.1_Missense_Mutation_p.R300G|TNFRSF14_uc001ajs.2_Missense_Mutation_p.Q130R	NM_003820	NP_003811	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily,	130	TNFR-Cys 3.|Extracellular (Potential).				immune response|interspecies interaction between organisms|T cell costimulation	integral to plasma membrane	tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)														---	---	---	---	wgs		Missense_Mutation	SNP	2491346	2491346	16830	1	A	G	G	7	7	TNFRSF14	G	4	4
TRIM62	55223	broad.mit.edu	37	1	33631102	33631102	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:33631102C>G	uc001bxb.2	-			c.474G>C	c.(472-474)CAG>CAC	p.Q158H		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	tripartite motif-containing 62	158	Potential.					intracellular	zinc ion binding				0		Myeloproliferative disorder(586;0.0393)																---	---	---	---	wgs		Missense_Mutation	SNP	33631102	33631102	17083	1	C	G	G	28	28	TRIM62	G	3	3
ESPN	83715	broad.mit.edu	37	1	6511729	6511729	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:6511729C>G	uc001amy.2	+			c.1982C>G	c.(1981-1983)GCA>GGA	p.A661G	ESPN_uc001amz.2_Missense_Mutation_p.A95G	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	espin	661	Pro-rich.|WH2.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding				0	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)														---	---	---	---	wgs		Missense_Mutation	SNP	6511729	6511729	5447	1	C	G	G	25	25	ESPN	G	3	3
ODF2L	57489	broad.mit.edu	37	1	86822257	86822257	+	Missense_Mutation	SNP	T	C	C			TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr1:86822257T>C	uc001dln.2	-			c.1301A>G	c.(1300-1302)AAG>AGG	p.K434R	ODF2L_uc001dll.1_Missense_Mutation_p.K463R|ODF2L_uc001dlm.1_Missense_Mutation_p.K434R|ODF2L_uc001dlo.2_Missense_Mutation_p.K303R|ODF2L_uc001dlp.2_Intron|ODF2L_uc010osg.1_Intron	NM_020729	NP_065780	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like isoform	463	Potential.									ovary(1)	1				all cancers(265;0.0313)|Epithelial(280;0.0611)														---	---	---	---	wgs		Missense_Mutation	SNP	86822257	86822257	11233	1	T	C	C	56	56	ODF2L	C	4	4
TGM6	343641	broad.mit.edu	37	20	2398068	2398068	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:2398068C>T	uc002wfy.1	+			c.1527C>T	c.(1525-1527)CAC>CAT	p.H509H	TGM6_uc010gal.1_Silent_p.H509H	NM_198994	NP_945345	O95932	TGM3L_HUMAN	transglutaminase 6	509					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			ovary(3)	3					L-Glutamine(DB00130)													---	---	---	---	wgs		Silent	SNP	2398068	2398068	16362	20	C	T	T	19	19	TGM6	T	1	1
UCKL1	54963	broad.mit.edu	37	20	62576073	62576073	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr20:62576073C>T	uc010gkn.2	-			c.669G>A	c.(667-669)AAG>AAA	p.K223K	UCKL1_uc002yhj.2_5'Flank|UCKL1_uc011abm.1_Silent_p.K208K|UCKL1_uc011abn.1_Non-coding_Transcript|UCKL1_uc011abo.1_Non-coding_Transcript|MIR647_hsa-mir-647|MI0003662_5'Flank	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	223					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity				0	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)																	---	---	---	---	wgs		Silent	SNP	62576073	62576073	17483	20	C	T	T	32	32	UCKL1	T	2	2
CECR2	27443	broad.mit.edu	37	22	17978484	17978484	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:17978484G>T	uc010gqw.1	+			c.322G>T	c.(322-324)GAC>TAC	p.D108Y	CECR2_uc010gqv.1_5'UTR|CECR2_uc002zml.2_5'UTR|CECR2_uc002zmm.1_5'UTR	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	150					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			ovary(1)|skin(1)	2		all_epithelial(15;0.139)		Lung(27;0.146)														---	---	---	---	wgs		Missense_Mutation	SNP	17978484	17978484	3339	22	G	T	T	33	33	CECR2	T	2	2
GGT1	2678	broad.mit.edu	37	22	25011062	25011062	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:25011062C>G	uc003aan.1	+			c.350C>G	c.(349-351)ACC>AGC	p.T117S	GGT1_uc003aas.1_Missense_Mutation_p.T117S|GGT1_uc003aat.1_Missense_Mutation_p.T117S|GGT1_uc003aau.1_Missense_Mutation_p.T117S|GGT1_uc003aav.1_Missense_Mutation_p.T117S|GGT1_uc003aaw.1_Missense_Mutation_p.T117S|GGT1_uc003aax.1_Missense_Mutation_p.T117S	NM_013430	NP_038347	P19440	GGT1_HUMAN	gamma-glutamyltransferase 1 precursor	117	Extracellular (Potential).				glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding				0					Glutathione(DB00143)													---	---	---	---	wgs		Missense_Mutation	SNP	25011062	25011062	6629	22	C	G	G	18	18	GGT1	G	3	3
MYO18B	84700	broad.mit.edu	37	22	26247493	26247493	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:26247493G>T	uc003abz.1	+			c.3832G>T	c.(3832-3834)GCT>TCT	p.A1278S	MYO18B_uc003aca.1_Missense_Mutation_p.A1159S|MYO18B_uc010guy.1_Missense_Mutation_p.A1160S|MYO18B_uc010guz.1_Missense_Mutation_p.A1159S|MYO18B_uc011aka.1_Missense_Mutation_p.A432S|MYO18B_uc011akb.1_Missense_Mutation_p.A791S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1278	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12																		---	---	---	---	wgs		Missense_Mutation	SNP	26247493	26247493	10461	22	G	T	T	38	38	MYO18B	T	1	1
SH3BP1	23616	broad.mit.edu	37	22	38037435	38037435	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:38037435C>T	uc003ati.2	+			c.157C>T	c.(157-159)CTG>TTG	p.L53L	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_Silent_p.L53L|SH3BP1_uc003ath.1_Silent_p.L53L|SH3BP1_uc003atj.1_5'UTR|SH3BP1_uc003atk.1_5'UTR	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	53	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			central_nervous_system(1)	1	Melanoma(58;0.0574)																	---	---	---	---	wgs		Silent	SNP	38037435	38037435	14735	22	C	T	T	28	28	SH3BP1	T	2	2
MOV10L1	54456	broad.mit.edu	37	22	50584212	50584212	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50584212C>T	uc003bjj.2	+			c.2600C>T	c.(2599-2601)TCA>TTA	p.S867L	MOV10L1_uc003bjk.3_Missense_Mutation_p.S867L|MOV10L1_uc011arp.1_Missense_Mutation_p.S847L|MOV10L1_uc003bjl.2_5'Flank	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	MOV10-like 1 isoform 1	867					germ cell development|multicellular organismal development|spermatogenesis	intracellular	ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			ovary(2)	2		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)														---	---	---	---	wgs		Missense_Mutation	SNP	50584212	50584212	10111	22	C	T	T	29	29	MOV10L1	T	2	2
TYMP	1890	broad.mit.edu	37	22	50965658	50965658	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr22:50965658A>T	uc003bme.3	-			c.701T>A	c.(700-702)GTT>GAT	p.V234D	SCO2_uc003bma.2_5'Flank|SCO2_uc003blz.3_5'Flank|TYMP_uc003bmb.3_Missense_Mutation_p.V234D|TYMP_uc003bmc.3_Missense_Mutation_p.V234D|TYMP_uc003bmd.3_Missense_Mutation_p.V234D|TYMP_uc010hbd.2_Missense_Mutation_p.V234D|TYMP_uc003bmf.3_Missense_Mutation_p.V201D|TYMP_uc011arz.1_3'UTR	NM_001953	NP_001944	P19971	TYPH_HUMAN	endothelial cell growth factor 1	234					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			ovary(1)	1		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)													---	---	---	---	wgs		Missense_Mutation	SNP	50965658	50965658	17368	22	A	T	T	2	2	TYMP	T	4	4
MYO7B	4648	broad.mit.edu	37	2	128389921	128389921	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:128389921C>G	uc002top.2	+			c.5272C>G	c.(5272-5274)CGG>GGG	p.R1758G	MYO7B_uc002tos.1_5'Flank|MYO7B_uc002tot.2_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	myosin VIIB	1758	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			ovary(1)|pancreas(1)	2	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)														---	---	---	---	wgs		Missense_Mutation	SNP	128389921	128389921	10478	2	C	G	G	31	31	MYO7B	G	3	3
TPO	7173	broad.mit.edu	37	2	1481365	1481365	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:1481365G>A	uc002qww.2	+			c.1327G>A	c.(1327-1329)GCT>ACT	p.A443T	TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.A443T|TPO_uc002qwr.2_Missense_Mutation_p.A443T|TPO_uc002qwx.2_Missense_Mutation_p.A443T|TPO_uc010yio.1_Intron|TPO_uc010yip.1_Missense_Mutation_p.A443T	NM_000547	NP_000538	P07202	PERT_HUMAN	thyroid peroxidase isoform a	443	Extracellular (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process|oxidation-reduction process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			ovary(6)|pancreas(6)|skin(3)|lung(1)|kidney(1)	17	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)													---	---	---	---	wgs		Missense_Mutation	SNP	1481365	1481365	16954	2	G	A	A	38	38	TPO	A	1	1
COL5A2	1290	broad.mit.edu	37	2	189915366	189915366	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:189915366C>G	uc002uqk.2	-			c.2968G>C	c.(2968-2970)GGG>CGG	p.G990R	COL5A2_uc010frx.2_Missense_Mutation_p.G566R	NM_000393	NP_000384	P05997	CO5A2_HUMAN	alpha 2 type V collagen preproprotein	990					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			ovary(2)	2			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)															---	---	---	---	wgs		Missense_Mutation	SNP	189915366	189915366	3835	2	C	G	G	23	23	COL5A2	G	3	3
SPEG	10290	broad.mit.edu	37	2	220299726	220299726	+	Silent	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:220299726C>A	uc010fwg.2	+			c.27C>A	c.(25-27)GGC>GGA	p.G9G	SPEG_uc002vlm.2_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	SPEG complex locus	9					muscle organ development|negative regulation of cell proliferation|protein phosphorylation	nucleus	ATP binding|protein serine/threonine kinase activity			ovary(4)|stomach(2)|central_nervous_system(1)	7		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)														---	---	---	---	wgs		Silent	SNP	220299726	220299726	15548	2	C	A	A	27	27	SPEG	A	1	1
PRR21	643905	broad.mit.edu	37	2	240981492	240981492	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:240981492C>G	uc010zod.1	-			c.908G>C	c.(907-909)CGT>CCT	p.R303P		NM_001080835	NP_001074304	Q8WXC7	PRR21_HUMAN	proline rich 21	303	Pro-rich.									ovary(1)	1																		---	---	---	---	wgs		Missense_Mutation	SNP	240981492	240981492	13040	2	C	G	G	19	19	PRR21	G	3	3
SMEK2	57223	broad.mit.edu	37	2	55805401	55805401	+	Missense_Mutation	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:55805401A>G	uc002rzc.2	-			c.1546T>C	c.(1546-1548)TCT>CCT	p.S516P	SMEK2_uc002rzb.2_Intron|SMEK2_uc002rzd.2_Intron|SMEK2_uc002rza.2_Intron	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 isoform 1	516						microtubule organizing center|nucleus	protein binding				0			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)															---	---	---	---	wgs		Missense_Mutation	SNP	55805401	55805401	15292	2	A	G	G	11	11	SMEK2	G	4	4
AUP1	550	broad.mit.edu	37	2	74756064	74756064	+	Splice_Site	SNP	T	A	A			TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:74756064T>A	uc002smf.2	-			c.340_splice	c.e4-1	p.P114_splice	DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'Flank|AUP1_uc002smg.2_Splice_Site_SNP|AUP1_uc002smh.2_Missense_Mutation_p.Q22L|AUP1_uc010yrx.1_Splice_Site_SNP_p.P171_splice|AUP1_uc010yry.1_3'UTR|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank	NM_181575	NP_853553			ancient ubiquitous protein 1							endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding				0																		---	---	---	---	wgs		Splice_Site_SNP	SNP	74756064	74756064	1241	2	T	A	A	55	55	AUP1	A	5	4
REG3A	5068	broad.mit.edu	37	2	79385590	79385590	+	Splice_Site	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:79385590C>A	uc002sod.1	-			c.196_splice	c.e3-1	p.L66_splice	REG3A_uc002soe.1_Splice_Site_SNP_p.L66_splice|REG3A_uc002sof.1_Splice_Site_SNP_p.L66_splice	NM_138938	NP_620355			pancreatitis-associated protein precursor						acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding				0																		---	---	---	---	wgs		Splice_Site_SNP	SNP	79385590	79385590	13681	2	C	A	A	28	28	REG3A	A	5	2
TEKT4	150483	broad.mit.edu	37	2	95542328	95542328	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:95542328G>T	uc002stw.1	+			c.1122G>T	c.(1120-1122)ATG>ATT	p.M374I	TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	tektin 4	374	Potential.				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				ovary(1)|breast(1)	2																		---	---	---	---	wgs		Missense_Mutation	SNP	95542328	95542328	16282	2	G	T	T	48	48	TEKT4	T	2	2
INPP4A	3631	broad.mit.edu	37	2	99172245	99172245	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr2:99172245C>T	uc002syy.2	+			c.1811C>T	c.(1810-1812)ACT>ATT	p.T604I	INPP4A_uc010yvj.1_Intron|INPP4A_uc010yvk.1_Intron|INPP4A_uc002syx.2_Missense_Mutation_p.T599I|INPP4A_uc010fik.2_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type 1	604					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			kidney(1)	1																		---	---	---	---	wgs		Missense_Mutation	SNP	99172245	99172245	8053	2	C	T	T	20	20	INPP4A	T	2	2
C3orf22	152065	broad.mit.edu	37	3	126270960	126270960	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:126270960G>A	uc003ejb.2	-			c.95C>T	c.(94-96)TCG>TTG	p.S32L		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	hypothetical protein LOC152065	32											0				GBM - Glioblastoma multiforme(114;0.147)														---	---	---	---	wgs		Missense_Mutation	SNP	126270960	126270960	2308	3	G	A	A	37	37	C3orf22	A	1	1
KIAA1257	57501	broad.mit.edu	37	3	128651648	128651648	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:128651648C>T	uc003elh.1	-			c.1284G>A	c.(1282-1284)CGG>CGA	p.R428R	KIAA1257_uc003elg.1_Intron	AK125726		Q9ULG3	K1257_HUMAN	RecName: Full=Uncharacterized protein FLJ43738;	Error:Variant_position_missing_in_Q9ULG3_after_alignment											0																		---	---	---	---	wgs		Silent	SNP	128651648	128651648	8527	3	C	T	T	30	30	KIAA1257	T	2	2
PRR23C	389152	broad.mit.edu	37	3	138762920	138762920	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:138762920G>A	uc011bmt.1	-			c.543C>T	c.(541-543)TCC>TCT	p.S181S		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	proline rich 23C	181										skin(1)	1																		---	---	---	---	wgs		Silent	SNP	138762920	138762920	13044	3	G	A	A	39	39	PRR23C	A	1	1
MCCC1	56922	broad.mit.edu	37	3	182775173	182775173	+	Missense_Mutation	SNP	T	G	G			TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:182775173T>G	uc003fle.2	-			c.799A>C	c.(799-801)AAT>CAT	p.N267H	MCCC1_uc010hxi.2_Non-coding_Transcript|MCCC1_uc011bqo.1_Non-coding_Transcript|MCCC1_uc003flf.2_Missense_Mutation_p.N150H|MCCC1_uc003flg.2_Missense_Mutation_p.N158H|MCCC1_uc011bqp.1_Missense_Mutation_p.N220H|MCCC1_uc011bqq.1_Missense_Mutation_p.N158H	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)	267	Biotin carboxylation.|ATP-grasp.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|methylcrotonoyl-CoA carboxylase activity			ovary(1)|central_nervous_system(1)	2	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)													---	---	---	---	wgs		Missense_Mutation	SNP	182775173	182775173	9763	3	T	G	G	63	63	MCCC1	G	4	4
SCN10A	6336	broad.mit.edu	37	3	38783970	38783970	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr3:38783970G>C	uc003ciq.2	-			c.1918C>G	c.(1918-1920)CAG>GAG	p.Q640E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha	640					sensory perception	voltage-gated sodium channel complex				ovary(5)|large_intestine(1)|kidney(1)|skin(1)	8				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)													---	---	---	---	wgs		Missense_Mutation	SNP	38783970	38783970	14394	3	G	C	C	45	45	SCN10A	C	3	3
CRIPAK	285464	broad.mit.edu	37	4	1389130	1389130	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:1389130G>A	uc003gdf.2	+			c.831G>A	c.(829-831)GGG>GGA	p.G277G		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	277	8.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding				0			OV - Ovarian serous cystadenocarcinoma(23;0.0106)															---	---	---	---	wgs		Silent	SNP	1389130	1389130	4016	4	G	A	A	43	43	CRIPAK	A	2	2
FSTL5	56884	broad.mit.edu	37	4	162841784	162841784	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:162841784G>C	uc003iqh.2	-			c.181C>G	c.(181-183)CCT>GCT	p.P61A	FSTL5_uc003iqi.2_Missense_Mutation_p.P60A|FSTL5_uc010iqv.2_Missense_Mutation_p.P60A	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	follistatin-like 5 isoform a	61						extracellular region	calcium ion binding			ovary(2)|pancreas(2)|large_intestine(1)|central_nervous_system(1)	6	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)														---	---	---	---	wgs		Missense_Mutation	SNP	162841784	162841784	6331	4	G	C	C	43	43	FSTL5	C	3	3
TUBB4Q	56604	broad.mit.edu	37	4	190903734	190903734	+	Silent	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:190903734A>G	uc011clg.1	-			c.1246T>C	c.(1246-1248)TTG>CTG	p.L416L		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	417					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)														---	---	---	---	wgs		Silent	SNP	190903734	190903734	17314	4	A	G	G	3	3	TUBB4Q	G	4	4
TUBB4Q	56604	broad.mit.edu	37	4	190903759	190903759	+	Silent	SNP	A	G	G			TCGA-43-3920-01	TCGA-43-3920-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:190903759A>G	uc011clg.1	-			c.1221T>C	c.(1219-1221)ACT>ACC	p.T407T		NM_020040	NP_064424	Q99867	TBB4Q_HUMAN	tubulin, beta polypeptide 4, member Q	408					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity				0		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)														---	---	---	---	wgs		Silent	SNP	190903759	190903759	17314	4	A	G	G	7	7	TUBB4Q	G	4	4
LIMCH1	22998	broad.mit.edu	37	4	41646532	41646532	+	Missense_Mutation	SNP	T	G	G			TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr4:41646532T>G	uc003gvz.3	+			c.2142T>G	c.(2140-2142)TTT>TTG	p.F714L	LIMCH1_uc003gvu.3_Missense_Mutation_p.F329L|LIMCH1_uc003gvv.3_Missense_Mutation_p.F329L|LIMCH1_uc003gvw.3_Missense_Mutation_p.F329L|LIMCH1_uc003gvx.3_Missense_Mutation_p.F317L|LIMCH1_uc003gwe.3_Missense_Mutation_p.F329L|LIMCH1_uc003gvy.3_Missense_Mutation_p.F158L|LIMCH1_uc003gwa.3_Missense_Mutation_p.F170L|LIMCH1_uc011byu.1_Missense_Mutation_p.F163L|LIMCH1_uc003gwc.3_Missense_Mutation_p.F175L|LIMCH1_uc003gwd.3_Missense_Mutation_p.F163L|LIMCH1_uc011byv.1_Missense_Mutation_p.F80L	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1 isoform a	329					actomyosin structure organization		actin binding|zinc ion binding			ovary(2)|pancreas(1)	3																OREG0016169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	---	---	---	wgs		Missense_Mutation	SNP	41646532	41646532	9123	4	T	G	G	63	63	LIMCH1	G	4	4
SRD5A1	6715	broad.mit.edu	37	5	6633701	6633701	+	Silent	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:6633701G>T	uc003jdw.2	+			c.12G>T	c.(10-12)GCG>GCT	p.A4A	NSUN2_uc003jdu.2_5'Flank|NSUN2_uc011cmk.1_5'Flank|NSUN2_uc003jdv.2_5'Flank|SRD5A1_uc011cml.1_Non-coding_Transcript|SRD5A1_uc011cmm.1_Missense_Mutation_p.R13L	NM_001047	NP_001038	P18405	S5A1_HUMAN	steroid-5-alpha-reductase 1	4					androgen biosynthetic process|cell differentiation|oxidation-reduction process|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity				0					Dutasteride(DB01126)|Finasteride(DB01216)													---	---	---	---	wgs		Silent	SNP	6633701	6633701	15652	5	G	T	T	37	37	SRD5A1	T	1	1
AGGF1	55109	broad.mit.edu	37	5	76332468	76332468	+	Missense_Mutation	SNP	G	T	T	rs72765108	byFrequency;by1000genomes	TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:76332468G>T	uc003ket.2	+			c.604G>T	c.(604-606)GTA>TTA	p.V202L	AGGF1_uc003keu.1_Non-coding_Transcript	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	angiogenic factor VG5Q	202					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			ovary(1)	1		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)														---	---	---	---	wgs		Missense_Mutation	SNP	76332468	76332468	385	5	G	T	T	48	48	AGGF1	T	2	2
RASA1	5921	broad.mit.edu	37	5	86564644	86564644	+	Missense_Mutation	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr5:86564644G>A	uc003kiw.2	+			c.376G>A	c.(376-378)GAG>AAG	p.E126K	RASA1_uc010jav.2_Non-coding_Transcript|RASA1_uc003kix.2_5'Flank|RASA1_uc011ctv.1_5'Flank|RASA1_uc011ctw.1_5'Flank|RASA1_uc010jaw.2_5'Flank|RASA1_uc011ctu.1_Missense_Mutation_p.E126K	NM_002890	NP_002881	P20936	RASA1_HUMAN	RAS p21 protein activator 1 isoform 1	126					cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding			upper_aerodigestive_tract(1)|ovary(1)	2		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)														---	---	---	---	wgs		Missense_Mutation	SNP	86564644	86564644	13520	5	G	A	A	45	45	RASA1	A	2	2
NR2E1	7101	broad.mit.edu	37	6	108497801	108497801	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:108497801G>A	uc003psg.2	+			c.354G>A	c.(352-354)GCG>GCA	p.A118A		NM_003269	NP_003260	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	118					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)	1		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)														---	---	---	---	wgs		Silent	SNP	108497801	108497801	11030	6	G	A	A	38	38	NR2E1	A	1	1
PPIL4	85313	broad.mit.edu	37	6	149867091	149867091	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:149867091G>A	uc003qmo.1	-			c.51C>T	c.(49-51)TAC>TAT	p.Y17Y	PPIL4_uc010kic.2_Non-coding_Transcript|PPIL4_uc003qmp.1_Silent_p.Y17Y	NM_139126	NP_624311	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase-like 4	17	PPIase cyclophilin-type.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding				0		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)														---	---	---	---	wgs		Silent	SNP	149867091	149867091	12764	6	G	A	A	48	48	PPIL4	A	2	2
HGC6.3	100128124	broad.mit.edu	37	6	168376977	168376977	+	Missense_Mutation	SNP	G	A	A	rs113501624		TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:168376977G>A	uc010kks.1	-			c.356C>T	c.(355-357)TCC>TTC	p.S119F		NM_001129895	NP_001123367	Q9UM08	Q9UM08_HUMAN	hypothetical protein LOC100128124	119											0																		---	---	---	---	wgs		Missense_Mutation	SNP	168376977	168376977	7367	6	G	A	A	41	41	HGC6.3	A	2	2
C6orf145	221749	broad.mit.edu	37	6	3751682	3751682	+	Silent	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:3751682G>A	uc003mvt.2	-			c.84C>T	c.(82-84)ATC>ATT	p.I28I		NM_183373	NP_899229	Q5TGL8	CF145_HUMAN	hypothetical protein LOC221749	28	PX.				cell communication		phosphatidylinositol binding			breast(1)	1	Ovarian(93;0.0925)	all_hematologic(90;0.108)																---	---	---	---	wgs		Silent	SNP	3751682	3751682	2438	6	G	A	A	37	37	C6orf145	A	1	1
EYS	346007	broad.mit.edu	37	6	66204592	66204592	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr6:66204592G>T	uc011dxu.1	-			c.712C>A	c.(712-714)CAA>AAA	p.Q238K	EYS_uc003peq.2_Missense_Mutation_p.Q238K|EYS_uc003per.1_Missense_Mutation_p.Q238K|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	eyes shut homolog isoform 1	238	EGF-like 2.				response to stimulus|visual perception	extracellular region	calcium ion binding			ovary(1)	1																		---	---	---	---	wgs		Missense_Mutation	SNP	66204592	66204592	5526	6	G	T	T	46	46	EYS	T	2	2
SLC4A2	6522	broad.mit.edu	37	7	150759124	150759124	+	Missense_Mutation	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:150759124C>T	uc003wit.3	+			c.50C>T	c.(49-51)ACG>ATG	p.T17M	SLC4A2_uc011kve.1_5'Flank|SLC4A2_uc003wiu.3_5'Flank	NM_003040	NP_003031	P04920	B3A2_HUMAN	solute carrier family 4, anion exchanger, member	17	Cytoplasmic (Potential).|Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity				0			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)														---	---	---	---	wgs		Missense_Mutation	SNP	150759124	150759124	15151	7	C	T	T	19	19	SLC4A2	T	1	1
TTYH3	80727	broad.mit.edu	37	7	2695768	2695768	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:2695768G>C	uc003smp.2	+			c.1063G>C	c.(1063-1065)GTG>CTG	p.V355L	TTYH3_uc010ksn.2_Missense_Mutation_p.V75L|TTYH3_uc003smq.2_Missense_Mutation_p.V184L	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	tweety 3	355	Extracellular (Potential).					chloride channel complex|plasma membrane	chloride channel activity				0		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)														---	---	---	---	wgs		Missense_Mutation	SNP	2695768	2695768	17296	7	G	C	C	44	44	TTYH3	C	3	3
TYW1B	441250	broad.mit.edu	37	7	72267529	72267529	+	Missense_Mutation	SNP	T	A	A			TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr7:72267529T>A	uc011kej.1	-			c.732A>T	c.(730-732)GAA>GAT	p.E244D	TYW1B_uc011keh.1_Missense_Mutation_p.E82D|TYW1B_uc011kek.1_Non-coding_Transcript	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B isoform	244					oxidation-reduction process|tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity				0																		---	---	---	---	wgs		Missense_Mutation	SNP	72267529	72267529	17376	7	T	A	A	60	60	TYW1B	A	4	4
ODF1	4956	broad.mit.edu	37	8	103573010	103573010	+	Silent	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:103573010C>G	uc003ykt.2	+			c.651C>G	c.(649-651)CCC>CCG	p.P217P		NM_024410	NP_077721	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	217	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			ovary(2)	2	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)															---	---	---	---	wgs		Silent	SNP	103573010	103573010	11231	8	C	G	G	24	24	ODF1	G	3	3
RP1L1	94137	broad.mit.edu	37	8	10466031	10466031	+	Missense_Mutation	SNP	A	C	C			TCGA-43-3920-01	TCGA-43-3920-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:10466031A>C	uc003wtc.2	-			c.5577T>G	c.(5575-5577)GAT>GAG	p.D1859E		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1859					intracellular signal transduction					ovary(4)|breast(3)|central_nervous_system(1)	8				COAD - Colon adenocarcinoma(149;0.0811)														---	---	---	---	wgs		Missense_Mutation	SNP	10466031	10466031	14012	8	A	C	C	8	8	RP1L1	C	4	4
HHLA1	10086	broad.mit.edu	37	8	133100143	133100143	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:133100143G>C	uc011liy.1	-			c.538C>G	c.(538-540)CAA>GAA	p.Q180E		NM_001145095	NP_001138567	C9JL84	HHLA1_HUMAN	HERV-H LTR-associating 1	180						extracellular region					0																		---	---	---	---	wgs		Missense_Mutation	SNP	133100143	133100143	7379	8	G	C	C	45	45	HHLA1	C	3	3
NRG1	3084	broad.mit.edu	37	8	31498188	31498188	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:31498188C>G	uc003xip.2	+			c.688C>G	c.(688-690)CTG>GTG	p.L230V		NM_013962	NP_039256	Q02297	NRG1_HUMAN	neuregulin 1 isoform GGF2	Error:Variant_position_missing_in_Q02297_after_alignment					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity|transmembrane receptor protein tyrosine kinase activator activity				0		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)														---	---	---	---	wgs		Missense_Mutation	SNP	31498188	31498188	11052	8	C	G	G	32	32	NRG1	G	3	3
PSKH2	85481	broad.mit.edu	37	8	87081792	87081792	+	Missense_Mutation	SNP	C	G	G			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:87081792C>G	uc011lfy.1	-			c.60G>C	c.(58-60)AAG>AAC	p.K20N		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	20					protein phosphorylation		ATP binding|protein serine/threonine kinase activity			lung(2)|ovary(1)	3			STAD - Stomach adenocarcinoma(118;0.129)															---	---	---	---	wgs		Missense_Mutation	SNP	87081792	87081792	13118	8	C	G	G	28	28	PSKH2	G	3	3
SDC2	6383	broad.mit.edu	37	8	97620595	97620595	+	Missense_Mutation	SNP	C	A	A			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr8:97620595C>A	uc003yhv.1	+			c.339C>A	c.(337-339)CAC>CAA	p.H113Q	SDC2_uc011lgu.1_Missense_Mutation_p.H84Q	NM_002998	NP_002989	P34741	SDC2_HUMAN	syndecan 2 precursor	113	Extracellular (Potential).					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			ovary(2)	2	Breast(36;3.41e-05)				Sargramostim(DB00020)													---	---	---	---	wgs		Missense_Mutation	SNP	97620595	97620595	14437	8	C	A	A	18	18	SDC2	A	2	2
ZNF618	114991	broad.mit.edu	37	9	116770824	116770824	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:116770824A>T	uc004bid.2	+			c.744A>T	c.(742-744)AAA>AAT	p.K248N	ZNF618_uc004bib.1_Missense_Mutation_p.K216N|ZNF618_uc004bic.2_Missense_Mutation_p.K216N|ZNF618_uc011lxi.1_Missense_Mutation_p.K216N|ZNF618_uc011lxj.1_Missense_Mutation_p.K216N	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0																		---	---	---	---	wgs		Missense_Mutation	SNP	116770824	116770824	18637	9	A	T	T	1	1	ZNF618	T	4	4
OR1L4	254973	broad.mit.edu	37	9	125486583	125486583	+	Silent	SNP	C	T	T			TCGA-43-3920-01	TCGA-43-3920-01	C	C							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:125486583C>T	uc004bmu.1	+			c.315C>T	c.(313-315)TTC>TTT	p.F105F		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L,	105	Helical; Name=3; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0																		---	---	---	---	wgs		Silent	SNP	125486583	125486583	11371	9	C	T	T	29	29	OR1L4	T	2	2
AQP7	364	broad.mit.edu	37	9	33385235	33385235	+	Missense_Mutation	SNP	T	G	G			TCGA-43-3920-01	TCGA-43-3920-01	T	T							Somatic	Phase_I	Capture				Illumina GAIIx	g.chr9:33385235T>G	uc003zst.2	-			c.797A>C	c.(796-798)TAT>TCT	p.Y266S	SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Intron	NM_001170	NP_001161	O14520	AQP7_HUMAN	aquaporin 7	266	Helical; (Potential).				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity				0			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)														---	---	---	---	wgs		Missense_Mutation	SNP	33385235	33385235	842	9	T	G	G	49	49	AQP7	G	4	4
CT47B1	643311	broad.mit.edu	37	X	120009319	120009319	+	Missense_Mutation	SNP	G	C	C			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:120009319G>C	uc011muc.1	-			c.206C>G	c.(205-207)GCG>GGG	p.A69G		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 147, member B1	69											0																		---	---	---	---	wgs		Missense_Mutation	SNP	120009319	120009319	4146	23	G	C	C	38	38	CT47B1	C	3	3
DCAF8L2	347442	broad.mit.edu	37	X	27766261	27766261	+	Missense_Mutation	SNP	G	T	T			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:27766261G>T	uc011mjy.1	+			c.1249G>T	c.(1249-1251)GTT>TTT	p.V417F		NM_001136533	NP_001130005			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|pancreas(1)	2																		---	---	---	---	wgs		Missense_Mutation	SNP	27766261	27766261	4449	23	G	T	T	44	44	DCAF8L2	T	2	2
LAS1L	81887	broad.mit.edu	37	X	64754668	64754668	+	Splice_Site	SNP	G	A	A			TCGA-43-3920-01	TCGA-43-3920-01	G	G							Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:64754668G>A	uc004dwa.1	-			c.-71_splice	c.e1-1		LAS1L_uc004dwc.1_Splice_Site_SNP|LAS1L_uc004dwd.1_Splice_Site_SNP	NM_031206	NP_112483			LAS1-like							MLL1 complex|nucleolus	protein binding			ovary(3)|large_intestine(1)	4																		---	---	---	---	wgs		Splice_Site_SNP	SNP	64754668	64754668	8959	23	G	A	A	37	37	LAS1L	A	5	1
PCDH11X	27328	broad.mit.edu	37	X	91132207	91132207	+	Missense_Mutation	SNP	A	T	T			TCGA-43-3920-01	TCGA-43-3920-01	A	A							Somatic	Phase_I	Capture				Illumina GAIIx	g.chrX:91132207A>T	uc004efk.1	+			c.968A>T	c.(967-969)CAC>CTC	p.H323L	PCDH11X_uc004efl.1_Missense_Mutation_p.H323L|PCDH11X_uc004efo.1_Missense_Mutation_p.H323L|PCDH11X_uc010nmv.1_Missense_Mutation_p.H323L|PCDH11X_uc004efm.1_Missense_Mutation_p.H323L|PCDH11X_uc004efn.1_Missense_Mutation_p.H323L|PCDH11X_uc004efh.1_Missense_Mutation_p.H323L|PCDH11X_uc004efj.1_Missense_Mutation_p.H323L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked isoform c	323	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			large_intestine(2)	2																		---	---	---	---	wgs		Missense_Mutation	SNP	91132207	91132207	11928	23	A	T	T	6	6	PCDH11X	T	4	4
