Riboflavin Missence Mutation Data

Gene Symbol	Chromosome	Start	End	rs ID	Strand	NCBI ref	Observed	Class	Function	Submitter Count	Submitter	Frequency Count	Allele Frequency
PRODH	chr22	18905898	18905899	rs3970559	+	G	A/G	single	missense	10	1000GENOMES,BCM_SSAHASNP,CLINSEQ_SNP,EXOME_CHIP,NHLBI-ESP,OMICIA,OMIM-CURATED-RECORDS,SC_SNP,SSMP,TSC-CSHL,	2	0.011183
PRODH	chr22	18905963	18905964	rs2904552	+	C	C/T	single	missense	13	1000GENOMES,ABI,CLINSEQ_SNP,ENSEMBL,EXOME_CHIP,HUMANGENOME_JCVI,NHLBI-ESP,OMICIA,OMIM-CURATED-RECORDS,PJP,SSAHASNP,TISHKOFF,TSC-CSHL,	2	0.929709
PRODH	chr22	18905976	18905977	rs2238731	+	C	C/T	single	missense	9	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,NHLBI-ESP,SC_SNP,SI_EXO,SSMP,TISHKOFF,YUSUKE,	2	0.955779
PRODH	chr22	18910354	18910355	rs5747933	+	G	G/T	single	missense	8	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SC_SNP,SEATTLESEQ,SSMP,	2	0.950928
PRODH	chr22	18912676	18912677	rs11913840	+	C	C/T	single	missense	6	1000GENOMES,CLINSEQ_SNP,CSHL-HAPMAP,EXOME_CHIP,NHLBI-ESP,SSMP,	2	0.945209
PRODH	chr22	18923628	18923629	rs146648839	+	C	C/T	single	intron,missense	3	1000GENOMES,EXOME_CHIP,NHLBI-ESP,	2	0.960514
PRODH	chr22	18923712	18923713	rs3815655	+	G	A/G	single	intron,missense	6	1000GENOMES,COMPLETE_GENOMICS,EXOME_CHIP,HGSV,SSMP,YUSUKE,	2	0.125229
PRODH	chr22	18923744	18923745	rs2008720	-	G	A/C	single	intron,missense	16	1000GENOMES,ABI,BCM-HGSC-SUB,BGI,CSHL-HAPMAP,EXOME_CHIP,GMI,HUMANGENOME_JCVI,ILLUMINA,PJP,SEQUENOM,SSAHASNP,SSMP,TSC-CSHL,WI_SSAHASNP,YUSUKE,	2	0.543462
TXNRD2	chr22	19868217	19868218	rs1139793	+	A	A/G	single	missense	31	1000GENOMES,AFFY,AFFY_GWHS,APPLERA_GI,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,CGM_KYOTO,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI,HGBASE,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,LEE,NHLBI-ESP,PERLEGEN,PJP,SC_SNP,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF,YUSUKE,	5	0.247231
TXNRD2	chr22	19870897	19870898	rs61736941	+	G	A/G	single	missense	2	CORNELL,NHLBI-ESP,	2	0.013513
TXNRD2	chr22	19882983	19882984	rs5992495	+	T	G/T	single	missense	20	1000GENOMES,ABI,AFFY,BUSHMAN,CLINSEQ_SNP,CORNELL,ENSEMBL,EXOME_CHIP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PJP,SC_SNP,SEATTLESEQ,SSMP,TISHKOFF,	2	0.232925
TXNRD2	chr22	19903289	19903290	rs61736929	+	C	C/G	single	missense	9	1000GENOMES,CLINSEQ_SNP,CORNELL,EXOME_CHIP,GOLDSTEINLAB,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF,	2	0.963597
TXNRD2	chr22	19907098	19907099	rs5748469	+	C	A/C	single	missense	20	1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,EXOME_CHIP,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SC_SNP,SEATTLESEQ,SSMP,TISHKOFF,	2	0.463202
ACAD9	chr3	128622921	128622922	rs115532916	+	G	A/C/G	single	ncRNA,missense	6	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,OMIM-CURATED-RECORDS,	2	0.013100
ACAD9	chr3	128627886	128627887	rs4494951	+	G	A/G	single	ncRNA,missense	11	1000GENOMES,ABI,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,DEVINE_LAB,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,SC_JCM,	2	0.011064
ACAD9	chr3	128634036	128634037	rs113633667	+	C	C/T	single	missense	4	1000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,ILLUMINA,	2	0.989467
ETFDH	chr4	159601675	159601676	rs11559290	+	C	C/T	single	missense	26	1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,ENSEMBL,EXOME_CHIP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,PJP,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF,	2	0.323065
MTRR	chr5	7866820	7866821	rs16879259	+	T	C/T	single	intron,missense	13	1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF,	2	0.065686
MTRR	chr5	7868029	7868030	rs2966952	+	T	C/T	single	intron,near-gene-5,missense	27	1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SC_JCM,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE,	2	0.834742
MTRR	chr5	7870972	7870973	rs1801394	+	A	A/G	single	near-gene-5,missense	29	1000GENOMES,ABI,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HGBASE,HUMANGENOME_JCVI,ILLUMINA,KYUGEN,NHLBI-ESP,OMICIA,OMIM-CURATED-RECORDS,PHARMGKB_PPII,PJP,SEATTLESEQ,SI_EXO,SNP500CANCER,SSMP,TISHKOFF,YUSUKE,	2	0.572342
MTRR	chr5	7878178	7878179	rs1532268	-	C	A/G	single	missense	27	1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,PJP,SEATTLESEQ,SNP500CANCER,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE,	2	0.295599
MTRR	chr5	7878423	7878424	rs2303080	+	T	A/T	single	missense	13	1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,HGSV,ILLUMINA,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,PJP,SEATTLESEQ,SSMP,YUSUKE,	2	0.030610
MTRR	chr5	7885906	7885907	rs10064631	+	C	C/G	single	missense	12	1000GENOMES,BUSHMAN,EXOME_CHIP,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,SEATTLESEQ,TISHKOFF,WI_SSAHASNP,	2	0.947887
MTRR	chr5	7885958	7885959	rs162036	+	A	A/G	single	missense	23	1000GENOMES,ABI,AFFY,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,PJP,SC_JCM,SEATTLESEQ,SSMP,TISHKOFF,	2	0.774035
MTRR	chr5	7889303	7889304	rs2287780	+	C	C/T	single	missense	16	1000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,SEATTLESEQ,SI_EXO,SNP500CANCER,SSMP,TISHKOFF,YUSUKE,	2	0.950050
MTRR	chr5	7891505	7891506	rs16879334	+	C	C/G	single	missense	11	1000GENOMES,AFFY,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF,	2	0.956700
MTRR	chr5	7897190	7897191	rs10380	+	C	C/T	single	missense	25	1000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,LEE,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,PJP,SEATTLESEQ,SEQUENOM,SI_EXO,SNP500CANCER,SSMP,TISHKOFF,YUSUKE,	2	0.811339
SDHA	chr5	223629	223630	rs1061518	+	T	G/T	single	missense	1	LEE,	2	0.100000
SDHA	chr5	223645	223646	rs34635677	+	A	A/T	single	missense	7	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,LARRIBA,NHLBI-ESP,SI_EXO,	2	0.967633
SDHA	chr5	233692	233693	rs1062468	+	G	A/G	single	missense	2	LEE,SEQUENOM,	2	0.120000
SDHA	chr5	236618	236619	rs201741295	+	T	C/T	single	missense	1	CLINSEQ_SNP,	2	0.015500
SDHA	chr5	236627	236628	rs201139275	+	C	C/T	single	missense	2	CLINSEQ_SNP,EXOME_CHIP,	2	0.962500
SDHA	chr5	236648	236649	rs76896145	+	C	C/T	single	missense	4	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,GMI,	2	0.888782
SDHA	chr5	236675	236676	rs138277996	+	G	A/G	single	missense	3	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,	2	0.071620
SDHA	chr5	236677	236678	rs111387770	+	G	A/G	single	missense	5	1000GENOMES,BCM-HGSC-SUB,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,	2	0.122482
SDHA	chr5	254511	254512	rs1126568	+	G	A/G	single	missense	3	1000GENOMES,LEE,SEQUENOM,	2	0.014233
SDHA	chr5	254598	254599	rs6960	+	A	A/T	single	missense	9	BCMHGSC_JDW,BCM_SSAHASNP,CGAP-GAI,CLINSEQ_SNP,EXOME_CHIP,LEE,NHLBI-ESP,SSMP,WI_SSAHASNP,	2	0.864915
SDHA	chr5	256508	256509	rs6962	+	G	A/G	single	missense	19	1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,HGSV,ILLUMINA,LARRIBA,LEE,NHLBI-ESP,PJP,SEATTLESEQ,SSMP,TISHKOFF,WI_SSAHASNP,	2	0.177438
ENPP1	chr6	132129362	132129363	rs200362492	+	C	A/C	single	missense	1	1000GENOMES,	2	0.046832
ENPP1	chr6	132172367	132172368	rs1044498	+	A	A/C	single	missense	32	1000GENOMES,ABI,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI,HGBASE,IBARROSO,ILLUMINA,ILLUMINA-UK,IMCJ-GDT,LEE,NHLBI-ESP,OMICIA,OMIM-CURATED-RECORDS,PERLEGEN,PJP,SC_SNP,SEATTLESEQ,SHGC,SSAHASNP,SSMP,TISHKOFF,	2	0.654913
ENPP1	chr6	132198238	132198239	rs79079368	+	C	C/G	single	missense	7	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SSMP,TISHKOFF,	2	0.986298
ENPP1	chr6	132201075	132201076	rs115371819	+	G	A/G	single	missense	6	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,TISHKOFF,	2	0.013580
ENPP1	chr6	132206078	132206079	rs28933977	+	C	C/T	single	missense	9	1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,OMIM-CURATED-RECORDS,PERLEGEN,SSMP,	2	0.975029
ENPP3	chr6	132030136	132030137	rs200752094	+	T	A/T	single	intron,missense	1	CLINSEQ_SNP,	2	0.011500
ENPP3	chr6	132030559	132030560	rs200750273	+	G	A/G	single	intron,missense	3	CLINSEQ_SNP,EXOME_CHIP,GMI,	2	0.065065
ENPP3	chr6	132030965	132030966	rs202051647	+	G	C/G	single	intron,missense	4	CLINSEQ_SNP,EXOME_CHIP,GMI,SSMP,	2	0.095500
ENPP3	chr6	132031140	132031141	rs202093315	+	A	A/C	single	intron,missense	1	CLINSEQ_SNP,	2	0.986500
ENPP3	chr6	132045179	132045180	rs58038770	+	A	A/G	single	missense	8	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,HGSV,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ,	2	0.987960
ENPP3	chr6	132047244	132047245	rs9321309	+	G	A/G	single	missense	13	1000GENOMES,AFFY,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP,	2	0.022033
ENPP3	chr6	132058567	132058568	rs77610153	+	C	C/G	single	missense	4	1000GENOMES,EXOME_CHIP,ILLUMINA,NHLBI-ESP,	2	0.984903
ENPP3	chr6	132061419	132061420	rs17601580	+	G	A/G	single	missense	10	1000GENOMES,AFFY,BCM-HGSC-SUB,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SSMP,	2	0.103232
IYD	chr6	150710631	150710632	rs111758467	+	A	A/G	single	missense	6	1000GENOMES,BUSHMAN,EXOME_CHIP,ILLUMINA,NHLBI-ESP,TISHKOFF,	2	0.987964
IYD	chr6	150713557	150713558	rs35217099	-	C	C/G	single	missense	1	APPLERA_GI,	2	0.014706
IYD	chr6	150716532	150716533	rs4407723	+	T	A/T	single	intron,missense	19	1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,DEVINE_LAB,ENSEMBL,EXOME_CHIP,GMI,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,	2	0.195807
IYD	chr6	150716611	150716612	rs73617694	+	C	C/T	single	intron,missense	5	1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,NHLBI-ESP,TISHKOFF,	2	0.986697
IYD	chr6	150716695	150716696	rs612421	-	T	A/G	single	intron,missense	26	1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KWOK,NHLBI-ESP,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,YUSUKE,	2	0.133209
IYD	chr6	150716696	150716697	rs4479949	+	G	A/G	single	intron,missense	12	1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,CLINSEQ_SNP,ENSEMBL,EXOME_CHIP,GMI,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SC_JCM,SSMP,	2	0.153534
IYD	chr6	150719239	150719240	rs73619510	+	G	A/G	single	coding-synon,missense,untranslated-3	7	1000GENOMES,COMPLETE_GENOMICS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF,	2	0.016934
IYD	chr6	150719313	150719314	rs36063028	-	G	C/T	single	missense,untranslated-3	13	1000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,HGSV,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF,	2	0.931895
DLD	chr7	107531728	107531729	rs75077312	+	G	A/G	single	missense	6	1000GENOMES,BUSHMAN,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,	2	0.010253
DLD	chr7	107545413	107545414	rs62001027	+	C	C/T	single	missense	1	CORNELL,	2	0.986111
DLD	chr7	107569961	107569962	rs35915664	+	A	A/G	single	missense	7	1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,	2	0.984689
POR	chr7	75614385	75614386	rs56010266	+	T	A/C	single	missense	1	XBZ4050KLSIC,	2	0.050505
POR	chr7	75615005	75615006	rs1057868	+	C	C/T	single	missense	19	1000GENOMES,BCM-HGSC-SUB,BL,BUSHMAN,EGP_SNPS,EXOME_CHIP,GMI,ILLUMINA,LEE,MGC_GENOME_DIFF,NHLBI-ESP,PHARMGKB_AB_DME,PHARMGKB_PMT,SEQUENOM,SNP500CANCER,SSMP,TISHKOFF,WIAF-CSNP,YUSUKE,	2	0.723404
POR	chr7	75615300	75615301	rs56256515	+	T	C/T	single	missense	3	EXOME_CHIP,NHLBI-ESP,XBZ4050KLSIC,	2	0.020202
SLC25A32	chr8	104417044	104417045	rs17803441	+	C	C/T	single	intron,ncRNA,missense	9	1000GENOMES,AFFY,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,	2	0.952397
SLC25A32	chr8	104427358	104427359	rs3134295	+	A	A/C	single	ncRNA,missense,untranslated-5	25	1000GENOMES,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,KYUGEN,NHLBI-ESP,PERLEGEN,PJP,SC_JCM,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,	2	0.537010
SLC52A2	chr8	145577898	145577899	rs116055973	+	C	C/T	single	intron,ncRNA,missense	2	1000GENOMES,TISHKOFF,	2	0.982578
SLC52A2	chr8	145579703	145579704	rs61747069	+	T	C/T	single	near-gene-5,missense	2	CORNELL,NHLBI-ESP,	2	0.016667
SLC52A2	chr8	145579791	145579792	rs2272665	+	C	A/C	single	near-gene-5,missense	3	ILLUMINA,KRIBB_YJKIM,YUSUKE,	2	0.017913
SLC52A2	chr8	145579961	145579962	rs77494279	+	C	C/T	single	near-gene-5,missense	3	CLINSEQ_SNP,ENSEMBL,EXOME_CHIP,	2	0.932166
SLC52A2	chr8	145580534	145580535	rs61746974	+	C	C/G	single	near-gene-5,missense	9	1000GENOMES,CLINSEQ_SNP,CORNELL,EXOME_CHIP,GOLDSTEINLAB,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF,	2	0.935919
SLC52A2	chr8	145581949	145581950	rs200282665	+	C	C/G	single	near-gene-5,missense	2	1000GENOMES,NHLBI-ESP,	2	0.985308
AIFM1	chrX	129281845	129281846	rs61730894	+	C	C/T	single	intron,missense	1	CORNELL,	2	0.987179

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