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
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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