Cobalamin Missence Mutation Data

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Gene Symbol	Chromosome	Start	End	rs ID	Strand	NCBI ref	Observed	Function	Submitter Count	Submitter	Frequency Count	Allele Frequency
MTRR	chr5	7885906	7885907	rs10064631	+	C	C/G	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	7897190	7897191	rs10380	+	C	C/T	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,SNP5	2	0.811339
FUT2	chr19	49206630	49206631	rs1047781	+	A	A/T	missense	14	1000GENOMES,AFFY,BGI,ENSEMBL,EXOME_CHIP,GMI,HGBASE,ILLUMINA,LEE,NHLBI-ESP,OMIM-CURATED-RECORDS,PERLEGEN,SEATTLESEQ,SSMP,	2	0.954271
MMAB	chr12	110011229	110011230	rs10774775	+	C	C/T	near-gene-5,ncRNA,missense	15	1000GENOMES,CLINSEQ_SNP,CORNELL,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI,ILLUMINA,KYUGEN,NHLBI-ESP,PJP,RSG_JCVI,SC_SNP,SEATTLESEQ,SSMP,	2	0.692981
CUBN	chr10	16893331	16893332	rs111265129	+	T	C/T	missense	6	1000GENOMES,BUSHMAN,EXOME_CHIP,ILLUMINA,NHLBI-ESP,TISHKOFF,	2	0.015755
CUBN	chr10	16957050	16957051	rs11254274	+	C	C/T	missense	4	ILLUMINA,NHLBI-ESP,PERLEGEN,SC_SNP,	2	0.987879
MUT	chr6	49412432	49412433	rs1141321	-	C	A/C/G	missense	25	1000GENOMES,AFFY,APPLERA_GI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,ILLUMINA,KRIBB_YJKIM,LEE,NHLBI-ESP,PERLEGEN,SC_SNP,SEATTLESEQ,SEQUENOM,SI_EXO,	4	0.242193
CUBN	chr10	17171175	17171176	rs12259370	+	C	C/T	missense	10	1000GENOMES,AFFY,EXOME_CHIP,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SC_SNP,SEATTLESEQ,	2	0.968623
LMBRD1	chr6	70407464	70407465	rs12648	+	A	A/T	missense	20	1000GENOMES,AFFY,BCMHGSC_JDW,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,ILLUMINA,LEE,NHLBI-ESP,PERLEGEN,PJP,SC_SNP,SEATTLESEQ,SEQUENOM,SSMP,TISHKOFF,	2	0.653007
MTRR	chr5	7878178	7878179	rs1532268	-	C	A/G	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,SNP500CANC	2	0.295599
MTRR	chr5	7885958	7885959	rs162036	+	A	A/G	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,SEATTL	2	0.774035
MTRR	chr5	7891505	7891506	rs16879334	+	C	C/G	missense	11	1000GENOMES,AFFY,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF,	2	0.9567
FUT2	chr19	49206285	49206286	rs1800021	+	A	A/G	missense	13	1000GENOMES,BUSHMAN,CLINSEQ_SNP,CORNELL,EXOME_CHIP,HGBASE,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PGA-UW-FHCRC,SEATTLESEQ,TISHKOFF,	2	0.966433
FUT2	chr19	49206726	49206727	rs1800025	+	G	A/G	missense	12	1000GENOMES,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,HGBASE,ILLUMINA,NHLBI-ESP,PERLEGEN,PGA-UW-FHCRC,SEATTLESEQ,TISHKOFF,	2	0.026364
CUBN	chr10	17156150	17156151	rs1801222	-	A	C/T	missense	30	1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HGBASE,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,RSG_JC	4	0.005167
CUBN	chr10	17147520	17147521	rs1801224	-	G	A/C/G	missense	30	1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI,HGBASE,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SC_SNP	4	0.468926
CUBN	chr10	16877109	16877110	rs1801230	-	G	C/T	missense	11	1000GENOMES,AFFY,BCMHGSC_JDW,CLINSEQ_SNP,ENSEMBL,EXOME_CHIP,HGBASE,ILLUMINA,NHLBI-ESP,PERLEGEN,RSG_JCVI,	2	0.981828
CUBN	chr10	17024502	17024503	rs1801231	-	G	C/T	missense	29	1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI,HGBASE,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PE	2	0.315809
CUBN	chr10	16870911	16870912	rs1801232	-	G	A/C/G	coding-synon,missense	19	1000GENOMES,ABI,AFFY,CLINSEQ_SNP,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI,HGBASE,HUMANGENOME_JCVI,ILLUMINA,NHLBI-ESP,PERLEGEN,PJP,RSG_JCVI,SC_SNP,SSAHASNP,SSMP,TISHKOFF,	2	0.0705
CUBN	chr10	16932489	16932490	rs1801238	-	G	A/C	missense	10	1000GENOMES,AFFY,CLINSEQ_SNP,EXOME_CHIP,HGBASE,ILLUMINA,NHLBI-ESP,PERLEGEN,SEQUENOM,WICVAR,	2	0.022789
CUBN	chr10	16919051	16919052	rs1801239	-	T	A/G	missense	14	1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,HGBASE,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,RSG_JCVI,SI_EXO,SSMP,	2	0.929549
CUBN	chr10	16918996	16918997	rs1801240	-	T	A/G	missense	13	1000GENOMES,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,HGBASE,ILLUMINA,NHLBI-ESP,RSG_JCVI,SEATTLESEQ,SI_EXO,SSMP,TISHKOFF,	2	0.877825
MTRR	chr5	7870972	7870973	rs1801394	+	A	A/G	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-RECOR	2	0.572342
MTR	chr1	237048499	237048500	rs1805087	+	A	A/G	missense	26	1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI,HGBASE,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PHARMGKB_CREATE,SC_JCM,SEATTLESEQ,SNP5	2	0.786029
MTR	chr1	236990140	236990141	rs2229274	+	G	A/G	missense	7	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,WICVAR,	2	0.019348
MUT	chr6	49415447	49415448	rs2229385	-	C	A/G	missense	14	1000GENOMES,APPLERA_GI,BCM-HGSC-SUB,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SI_EXO,SSMP,WICVAR,	2	0.101609
MMAA	chr4	146576417	146576418	rs2270655	+	G	C/G	missense	16	1000GENOMES,AFFY,APPLERA_GI,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF,YUSUKE,	2	0.056183
CUBN	chr10	16961994	16961995	rs2271460	+	A	A/C	missense	11	1000GENOMES,AFFY,BUSHMAN,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SSMP,YUSUKE,	2	0.983847
CUBN	chr10	16982060	16982061	rs2271462	+	C	C/T	missense	15	1000GENOMES,AFFY,BGI,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,PERLEGEN,SC_SNP,SEATTLESEQ,SI_EXO,SSMP,TISHKOFF,YUSUKE,	2	0.91485
MTRR	chr5	7889303	7889304	rs2287780	+	C	C/T	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	0.95005
MTRR	chr5	7878423	7878424	rs2303080	+	T	A/T	missense	13	1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,HGSV,ILLUMINA,NHLBI-ESP,PERLEGEN,PHARMGKB_PPII,PJP,SEATTLESEQ,SSMP,YUSUKE,	2	0.03061
CUBN	chr10	16979605	16979606	rs2356590	+	G	G/T	missense	14	1000GENOMES,ABI,AFFY,BGI,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,SI_EXO,SSMP,TSC-CSHL,	2	0.95257
TCN1	chr11	59623377	59623378	rs34324219	+	C	A/C	missense	12	1000GENOMES,APPLERA_GI,BCM-HGSC-SUB,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,SEATTLESEQ,SNP500CANCER,TISHKOFF,	2	0.085682
MMAA	chr4	146563574	146563575	rs34474021	-	T	A/G	missense	1	APPLERA_GI,	2	0.986842
TCN1	chr11	59631534	59631535	rs34528912	+	C	C/T	missense	7	1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,	2	0.971403
MMADHC	chr2	150433000	150433001	rs34886916	-	C	G/T	missense	5	1000GENOMES,APPLERA_GI,EXOME_CHIP,ILLUMINA,NHLBI-ESP,	2	0.98867
ABCD4	chr14	74763063	74763064	rs34992370	+	C	C/T	ncRNA,missense	13	1000GENOMES,APPLERA_GI,BUSHMAN,CANCER-GENOME,CLINSEQ_SNP,EXOME_CHIP,HGSV,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,PERLEGEN,SEATTLESEQ,TISHKOFF,	2	0.931216
ABCD4	chr14	74759058	74759059	rs35073715	+	G	C/G	ncRNA,missense	8	1000GENOMES,APPLERA_GI,CLINSEQ_SNP,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,PERLEGEN,	2	0.018426
GIF	chr11	59612858	59612859	rs35211634	+	T	C/T	missense	14	1000GENOMES,APPLERA_GI,BUSHMAN,CGM_KYOTO,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,OMIM-CURATED-RECORDS,PERLEGEN,SEATTLESEQ,SSMP,TISHKOFF,	2	0.098385
MMACHC	chr1	45974848	45974849	rs35219601	-	A	C/T	missense	10	1000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,EGP_SNPS,EXOME_CHIP,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ,TISHKOFF,	2	0.027489
GIF	chr11	59604753	59604754	rs35867471	+	T	C/T	missense	7	1000GENOMES,APPLERA_GI,EXOME_CHIP,ILLUMINA,NHLBI-ESP,PERLEGEN,TISHKOFF,	2	0.027793
CUBN	chr10	16948389	16948390	rs3740168	-	G	C/G	missense	12	1000GENOMES,ABI,BUSHMAN,CLINSEQ_SNP,CSHL-HAPMAP,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,SSMP,TISHKOFF,YUSUKE,	2	0.973781
ABCD4	chr14	74759005	74759006	rs3742801	-	C	A/G	ncRNA,missense	22	1000GENOMES,ABI,AFFY,APPLERA_GI,BCM-HGSC-SUB,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,EXOME_CHIP,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PERLEGEN,RIKENSNPRC,SEATTLESEQ,SI_EXO,	3	0.289501
CUBN	chr10	16979713	16979714	rs41289305	+	T	C/T	missense	13	1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,CLINSEQ_SNP,ENSEMBL,EXOME_CHIP,ILLUMINA,NHLBI-ESP,RSG_JCVI,SI_EXO,SSMP,TISHKOFF,	2	0.126287
ABCD4	chr14	74759476	74759477	rs4148077	-	C	A/G	ncRNA,missense	19	1000GENOMES,AFFY,APPLERA_GI,BCM-HGSC-SUB,CANCER-GENOME,CLINSEQ_SNP,COMPLETE_GENOMICS,EXOME_CHIP,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,RIKENSNPRC,SEATTLESEQ,SSMP,TISHKOFF,WI_SSAHASNP,	2	0.291266
CUBN	chr10	16930418	16930419	rs45569534	+	C	C/G	missense	6	1000GENOMES,CLINSEQ_SNP,EXOME_CHIP,ILLUMINA,NHLBI-ESP,RSG_JCVI,	2	0.98494
CUBN	chr10	17087007	17087008	rs45588636	+	C	A/C	missense	2	ILLUMINA,RSG_JCVI,	2	0.025
ABCD4	chr14	74766359	74766360	rs58272575	+	T	C/T	intron,missense	11	1000GENOMES,BUSHMAN,CANCER-GENOME,CLINSEQ_SNP,EXOME_CHIP,HGSV,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,SEATTLESEQ,TISHKOFF,	2	0.069236
FUT2	chr19	49206984	49206985	rs602662	+	G	A/G	missense	25	1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,ENSEMBL,EXOME_CHIP,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PAGE_STUDY,PERLEGEN,PGA-UW-FHC	2	0.441429
MTR	chr1	237058742	237058743	rs61736326	+	G	A/G	missense	7	1000GENOMES,CORNELL,EXOME_CHIP,ILLUMINA,NHLBI-ESP,SEATTLESEQ,TISHKOFF,	2	0.017925

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