Riboflavin Missence Mutation Data

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Gene Symbol	Chromosome	Start	End	rs ID	Strand	NCBI ref	Observed	Class	Function	Submitter Count	Submitter	Frequency Count	Allele Frequency
FMO3	chr1	171076887	171076888	rs12072582	+	G	C/G	single	missense	13	1000GENOMES,AFFY,CANCER-GENOME,COMPLETE_GENOMICS,EGP_SNPS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PHARMGKB_AB_DME,SC_SNP,SEATTLESEQ,SNP500CANCER,TISHKOFF,	2	0.017220
FMO3	chr1	171076965	171076966	rs2266782	+	G	A/G	single	missense	28	1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BUSHMAN,CANCER-GENOME,CLINSEQ_SNP,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,EXOME_CHIP,GENEREVIEWS,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_AB_DME,PJP,SEATTLESEQ,SI_EXO,SNP500CANCER,SSAHASNP,SSMP,TISHKOFF,UWGC,YUSUKE,	2	0.378004
FMO3	chr1	171077273	171077274	rs75904274	+	G	G/T	single	missense	6	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,MPI_MOLGEN,NHLBI-ESP,	2	0.985499
FMO3	chr1	171080079	171080080	rs1736557	+	G	A/G	single	missense	24	1000GENOMES,AFFY,CANCER-GENOME,CLINSEQ_SNP,EGP_SNPS,EXOME_CHIP,GMI,HGBASE,HGSV,ILLUMINA,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,OMICIA,OMIM-CURATED-RECORDS,PERLEGEN,PHARMGKB_AB_DME,PJP,SC_JCM,SEATTLESEQ,SNP500CANCER,SSMP,UWGC,YUSUKE,	2	0.080977
FMO3	chr1	171083148	171083149	rs2066530	+	T	C/T	single	missense	13	1000GENOMES,AFFY,CLINSEQ_SNP,EGP_SNPS,EXOME_CHIP,HGBASE,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PHARMGKB_AB_DME,SNP500CANCER,TISHKOFF,UWGC,	2	0.015441
FMO3	chr1	171083241	171083242	rs2266780	+	A	A/G	single	missense	21	1000GENOMES,ABI,AFFY,CANCER-GENOME,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,EXOME_CHIP,GENEREVIEWS,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_AB_DME,SNP500CANCER,SSMP,TISHKOFF,UWGC,	2	0.876659
KDM1A	chr1	23395077	23395078	rs61739756	+	T	G/T	single	missense	1	CORNELL,	2	0.013158
MTHFR	chr1	11847448	11847449	rs3737967	-	G	C/T	single	missense,untranslated-3	6	1000GENOMES,CLINSEQ_SNP,GMI,ILLUMINA,SSMP,YUSUKE,	2	0.948970
MTHFR	chr1	11848067	11848068	rs1537514	-	G	C/G	single	missense,untranslated-3	13	1000GENOMES,ABI,CLINSEQ_SNP,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SI_EXO,SNP500CANCER,SSMP,TISHKOFF,TSC-CSHL,	2	0.871519
MTHFR	chr1	11849446	11849447	rs868014	-	A	C/T	single	missense,untranslated-3	22	1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,	2	0.945596
MTHFR	chr1	11850749	11850750	rs35737219	+	G	A/G	single	missense	9	1000GENOMES,APPLERA_GI,CGM_KYOTO,CLINSEQ_SNP,EGP_SNPS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PHARMGKB_PPII,	2	0.017006
MTHFR	chr1	11850926	11850927	rs2274976	-	C	A/G	single	missense	17	1000GENOMES,AFFY,APPLERA_GI,CGM_KYOTO,CLINSEQ_SNP,EGP_SNPS,EXOME_CHIP,GMI,ILLUMINA,IMCJ-GDT,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,SSMP,YUSUKE,	2	0.050935
MTHFR	chr1	11854473	11854474	rs72552099	-	T	A/C	single	missense	1	PHARMGKB_PPII,	2	0.673140
MTHFR	chr1	11854475	11854476	rs1801131	-	T	A/C	single	missense	25	1000GENOMES,AFFY,APPLERA_GI,BCMHGSC_JDW,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,COMPLETE_GENOMICS,EGP_SNPS,EXOME_CHIP,GMI,HGBASE,ILLUMINA,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,OMICIA,PERLEGEN,PHARMGKB_PAAR-SJCRH,PHARMGKB_PPII,SEATTLESEQ,SI_EXO,SNP500CANCER,SSMP,TISHKOFF,	4	0.722351
MTHFR	chr1	11856377	11856378	rs1801133	-	G	C/T	single	missense	33	1000GENOMES,ABI,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,EXOME_CHIP,GMI,HGBASE,ILLUMINA,IMCJ-GDT,KRIBB_YJKIM,NHLBI-ESP,OMICIA,PAGE_STUDY,PERLEGEN,PHARMGKB_PAAR-SJCRH,PHARMGKB_PPII,PJP,SEATTLESEQ,SNP500CANCER,SSMP,TISHKOFF,UWGC,YUSUKE,	2	0.719393
PPOX	chr1	161138326	161138327	rs11555523	+	A	A/G	single	missense	3	CGAP-GAI,ILLUMINA,KRIBB_YJKIM,	2	0.903226
PPOX	chr1	161139737	161139738	rs36013429	-	G	C/T	single	missense	11	1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SI_EXO,SSMP,	2	0.954601
ACP2	chr11	47264571	47264572	rs34425282	-	G	C/T	single	missense	3	APPLERA_GI,ILLUMINA,PERLEGEN,	2	0.952381
ACP2	chr11	47270254	47270255	rs2167079	-	C	A/G	single	near-gene-5,missense,untranslated-5	27	1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KYUGEN,NHLBI-ESP,PJP,SC_SNP,SEATTLESEQ,SSMP,TISHKOFF,TSC-CSHL,WIAF-CSNP,	2	0.440645
FOXRED1	chr11	126141397	126141398	rs34027332	+	A	A/G	single	intron,ncRNA,missense	1	APPLERA_GI,	2	0.987179
ACADS	chr12	121175677	121175678	rs1800556	+	C	C/T	single	missense	13	1000GENOMES,APPLERA_GI,CLINSEQ_SNP,ENSEMBL,EXOME_CHIP,HGBASE,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,OMIM-CURATED-RECORDS,PERLEGEN,PJP,	2	0.970143
ACADS	chr12	121176082	121176083	rs1799958	+	G	A/G	single	missense	19	1000GENOMES,ABI,BGI,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,CORNELL,EXOME_CHIP,HGBASE,ILLUMINA,IMCJ-GDT,NHLBI-ESP,OMIM-CURATED-RECORDS,PJP,SEATTLESEQ,SSMP,TISHKOFF,WIAF-CSNP,YUSUKE,	2	0.194888
ACADS	chr12	121177159	121177160	rs35233375	+	G	A/G	single	missense	3	APPLERA_GI,ILLUMINA,PERLEGEN,	2	0.047619
COQ6	chr14	74416697	74416698	rs11848954	+	C	C/G	single	near-gene-5,missense,untranslated-5	12	1000GENOMES,ABI,APPLERA_GI,CLINSEQ_SNP,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,SSMP,TISHKOFF,	2	0.979246
COQ6	chr14	74416781	74416782	rs190881382	+	T	G/T	single	near-gene-5,missense,untranslated-5	2	1000GENOMES,ILLUMINA,	2	0.023875
COQ6	chr14	74416831	74416832	rs111833521	+	G	G/T	single	near-gene-5,missense	4	1000GENOMES,BUSHMAN,ILLUMINA,TISHKOFF,	2	0.984432
COQ6	chr14	74416835	74416836	rs17094161	+	G	A/G	single	near-gene-5,nonsense,missense	6	1000GENOMES,AFFY,ILLUMINA,KRIBB_YJKIM,PERLEGEN,TISHKOFF,	2	0.020356
COQ6	chr14	74420251	74420252	rs61743864	+	G	A/G	single	missense	5	1000GENOMES,CORNELL,EXOME_CHIP,ILLUMINA,NHLBI-ESP,	2	0.017490
COQ6	chr14	74427999	74428000	rs2074930	-	A	A/T	single	missense	14	1000GENOMES,AFFY,APPLERA_GI,BGI,CLINSEQ_SNP,EXOME_CHIP,GMI,HGBASE,ILLUMINA,NHLBI-ESP,PERLEGEN,SSMP,TISHKOFF,YUSUKE,	2	0.103821
COQ6	chr14	74428444	74428445	rs8500	-	G	C/T	single	missense	21	1000GENOMES,AFFY,APPLERA_GI,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,HGBASE,ILLUMINA,KRIBB_YJKIM,LEE,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF,YUSUKE,	2	0.641224
L2HGDH	chr14	50778769	50778770	rs35710558	-	C	G/T	single	near-gene-5,missense	7	1000GENOMES,APPLERA_GI,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,TISHKOFF,	2	0.988918
L2HGDH	chr14	50778815	50778816	rs2275591	+	A	A/C	single	near-gene-5,missense	23	1000GENOMES,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,PJP,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF,YUSUKE,	2	0.429577
DUOX2	chr15	45392074	45392075	rs269868	-	G	C/T	single	missense	26	1000GENOMES,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KWOK,NHLBI-ESP,PERLEGEN,PJP,SC_JCM,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF,	4	0.002155
DUOX2	chr15	45392381	45392382	rs79393107	+	T	C/T	single	missense	6	1000GENOMES,BUSHMAN,EXOME_CHIP,ILLUMINA,NHLBI-ESP,TISHKOFF,	2	0.040440
DUOX2	chr15	45393013	45393014	rs61730030	+	G	C/G	single	missense	5	1000GENOMES,CLINSEQ_SNP,CORNELL,EXOME_CHIP,NHLBI-ESP,	2	0.049754
DUOX2	chr15	45396474	45396475	rs61747115	+	C	C/T	single	missense	1	CORNELL,	2	0.861111
DUOX2	chr15	45398368	45398369	rs113400262	+	C	C/T	single	missense	7	1000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,TISHKOFF,	2	0.955100
DUOX2	chr15	45398437	45398438	rs57659670	+	T	C/T	single	missense	13	1000GENOMES,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,HGSV,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ,SSMP,TISHKOFF,	2	0.169017
DUOX2	chr15	45402882	45402883	rs151261408	+	G	C/G	single	missense	4	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,NHLBI-ESP,	2	0.010211
DUOX2	chr15	45403966	45403967	rs199957468	+	A	A/G	single	missense	4	1000GENOMES,EXOME_CHIP,NHLBI-ESP,TISHKOFF,	2	0.987144
DUOX2	chr15	45404065	45404066	rs2001616	+	G	A/G	single	missense	23	1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,PJP,SC_SNP,SEATTLESEQ,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,	2	0.766169
ETFA	chr15	76578761	76578762	rs1801591	-	G	C/T	single	missense	16	1000GENOMES,AFFY,APPLERA_GI,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,HGBASE,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SSMP,WICVAR,YUSUKE,	2	0.943707
IVD	chr15	40698115	40698116	rs73383128	+	C	C/T	single	missense	8	1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF,	2	0.988683
IVD	chr15	40699839	40699840	rs34695403	+	C	C/G/T	single	intron,missense	4	APPLERA_GI,ILLUMINA,NHLBI-ESP,OMIM-CURATED-RECORDS,	2	0.986842
DHODH	chr16	72042681	72042682	rs3213422	+	A	A/C	single	missense	24	1000GENOMES,AFFY,APPLERA_GI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,CANCER-GENOME,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SEATTLESEQ,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE,	2	0.433478
DHODH	chr16	72057420	72057421	rs61733129	+	C	C/T	single	missense	11	1000GENOMES,APPLERA_GI,CANCER-GENOME,CLINSEQ_SNP,CORNELL,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,SSMP,TISHKOFF,	2	0.975678
GFER	chr16	2035906	2035907	rs36041021	+	T	C/T	single	missense	8	1000GENOMES,ABI,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,HUMANGENOME_JCVI,ILLUMINA,NHLBI-ESP,	2	0.061513
ACADVL	chr17	7123351	7123352	rs2230179	+	C	C/T	single	intron,missense,untranslated-5	9	1000GENOMES,APPLERA_GI,CGAP-GAI,EXOME_CHIP,GENEREVIEWS,ILLUMINA,NHLBI-ESP,TISHKOFF,WICVAR,	2	0.976632
ACADVL	chr17	7123505	7123506	rs2230178	+	G	A/G	single	near-gene-5,missense,untranslated-5	10	1000GENOMES,APPLERA_GI,CGAP-GAI,COMPLETE_GENOMICS,EXOME_CHIP,GENEREVIEWS,ILLUMINA,NHLBI-ESP,SSMP,WICVAR,	2	0.071173
ACADVL	chr17	7123837	7123838	rs28934585	+	C	C/T	single	intron,near-gene-5,missense,untranslated-5	11	1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,GENEREVIEWS,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,OMICIA,PERLEGEN,SEATTLESEQ,	2	0.970896

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