Gene Symbol | Chromosome | Start | End | rs ID | Strand | NCBI ref | Observed | Class | Function | Submitter Count | Submitter | Frequency Count | Allele Frequency |
---|
AGPS | chr2 | 178313617 | 178313618 | rs4893826 | + | A | A/G | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.099426 |
AGPS | chr2 | 178314025 | 178314026 | rs75713830 | + | A | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.957317 |
AGPS | chr2 | 178314089 | 178314090 | rs12621156 | + | C | C/T | single | intron | 17 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.105685 |
AGPS | chr2 | 178314188 | 178314189 | rs72950095 | + | T | C/T | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.046789 |
AGPS | chr2 | 178314355 | 178314356 | rs79298671 | + | T | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA-UK,TISHKOFF, | 2 | 0.038073 |
AGPS | chr2 | 178314844 | 178314845 | rs10930791 | + | G | A/G | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.891522 |
AGPS | chr2 | 178315750 | 178315751 | rs12616443 | + | A | A/G | single | intron | 13 | 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.435757 |
AGPS | chr2 | 178315815 | 178315816 | rs4308151 | + | G | A/G | single | intron | 16 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.891374 |
AGPS | chr2 | 178315898 | 178315899 | rs3902850 | - | G | C/T | single | intron | 17 | 1000GENOMES,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.310045 |
AGPS | chr2 | 178316426 | 178316427 | rs4893827 | + | A | A/G | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.105289 |
AGPS | chr2 | 178316676 | 178316677 | rs58725259 | + | A | A/G | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,HGSV,SSMP,TISHKOFF, | 2 | 0.959212 |
AGPS | chr2 | 178316689 | 178316690 | rs11349668 | + | A | -/A | deletion | intron | 12 | 1000GENOMES,ABI,BILGI_BIOE,BUSHMAN,DEVINE_LAB,GMI,HGSV,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.891384 |
AGPS | chr2 | 178317917 | 178317918 | rs1453369 | - | C | A/G | single | intron | 19 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SEQUENOM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.905509 |
AGPS | chr2 | 178318072 | 178318073 | rs113599316 | + | C | C/T | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.958716 |
AGPS | chr2 | 178318374 | 178318375 | rs2121430 | - | T | A/G | single | intron | 16 | 1000GENOMES,AFFY,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.435045 |
AGPS | chr2 | 178318969 | 178318970 | rs4585065 | + | G | G/T | single | intron | 17 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.110387 |
AGPS | chr2 | 178320217 | 178320218 | rs76467453 | + | C | C/T | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.975666 |
AGPS | chr2 | 178320221 | 178320222 | rs7565022 | + | A | A/T | single | intron | 16 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.395814 |
AGPS | chr2 | 178320494 | 178320495 | rs76201624 | + | C | A/C | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,GMI,SSMP,TISHKOFF, | 2 | 0.160883 |
AGPS | chr2 | 178320547 | 178320548 | rs73976713 | + | C | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA-UK,TISHKOFF, | 2 | 0.961927 |
AGPS | chr2 | 178320575 | 178320576 | rs78157515 | + | T | A/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.040563 |
AGPS | chr2 | 178320612 | 178320613 | rs6743013 | + | C | A/C | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WUGSC_SSAHASNP, | 2 | 1.000000 |
AGPS | chr2 | 178320732 | 178320733 | rs75874791 | + | G | A/G | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.015666 |
AGPS | chr2 | 178321769 | 178321770 | rs139490697 | + | T | G/T | single | intron | 1 | 1000GENOMES, | 2 | 0.047291 |
AGPS | chr2 | 178321856 | 178321857 | rs10803909 | + | G | A/G | single | intron | 11 | 1000GENOMES,BCMHGSC_JDW,BL,CSHL-HAPMAP,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP, | 2 | 0.571560 |
AGPS | chr2 | 178321938 | 178321939 | rs149098531 | + | A | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.962351 |
AGPS | chr2 | 178322023 | 178322024 | rs116039674 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.978242 |
AGPS | chr2 | 178322165 | 178322166 | rs9679607 | + | C | C/T | single | intron | 13 | 1000GENOMES,BCMHGSC_JDW,BGI,CSHL-HAPMAP,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.307339 |
AGPS | chr2 | 178322636 | 178322637 | rs4335983 | + | C | C/T | single | intron | 14 | 1000GENOMES,BCMHGSC_JDW,BL,CSHL-HAPMAP,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,WI_SSAHASNP,WUGSC_SSAHASNP, | 2 | 0.108257 |
AGPS | chr2 | 178322651 | 178322652 | rs141950763 | + | C | C/T | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.851699 |
AGPS | chr2 | 178322765 | 178322766 | rs2364850 | + | T | C/T | single | intron | 14 | 1000GENOMES,BCMHGSC_JDW,BL,CSHL-HAPMAP,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WI_SSAHASNP,WUGSC_SSAHASNP, | 2 | 0.899541 |
AGPS | chr2 | 178322964 | 178322965 | rs144318452 | + | C | C/T | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.845730 |
AGPS | chr2 | 178323044 | 178323045 | rs145186065 | + | A | A/G | single | intron | 2 | 1000GENOMES,BL, | 2 | 0.951331 |
AGPS | chr2 | 178323071 | 178323072 | rs142066891 | + | A | A/G | single | intron | 4 | 1000GENOMES,GMI,SSMP,TISHKOFF, | 2 | 0.843893 |
AGPS | chr2 | 178323204 | 178323205 | rs139560443 | + | G | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.036731 |
AGPS | chr2 | 178323647 | 178323648 | rs139600862 | + | A | A/G | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.843893 |
AGPS | chr2 | 178323765 | 178323766 | rs116573604 | + | A | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.983014 |
AGPS | chr2 | 178323809 | 178323810 | rs10930792 | + | A | A/G | single | intron | 10 | 1000GENOMES,BCMHGSC_JDW,BGI,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP, | 2 | 0.309633 |
AGPS | chr2 | 178323886 | 178323887 | rs138228275 | + | A | A/C | single | intron | 5 | 1000GENOMES,BL,GMI,PJP,SSMP, | 2 | 0.109275 |
AGPS | chr2 | 178324356 | 178324357 | rs141312179 | + | C | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.955005 |
AGPS | chr2 | 178324428 | 178324429 | rs114064672 | + | C | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.012631 |
AGPS | chr2 | 178324878 | 178324879 | rs4341974 | + | A | A/C | single | intron | 11 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,GMI,HUMANGENOME_JCVI,PJP,SC_JCM,SSMP,TISHKOFF, | 2 | 0.435499 |
AGPS | chr2 | 178325474 | 178325475 | rs3769998 | - | C | A/G | single | intron | 6 | 1000GENOMES,AFFY,CSHL-HAPMAP,KRIBB_YJKIM,SSMP,YUSUKE, | 2 | 0.019394 |
AGPS | chr2 | 178326036 | 178326037 | rs7608135 | + | T | C/T | single | intron | 20 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.897691 |
AGPS | chr2 | 178326469 | 178326470 | rs73976715 | + | A | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,ILLUMINA-UK, | 2 | 0.961503 |
AGPS | chr2 | 178326837 | 178326838 | rs1979059 | - | C | C/G | single | intron | 15 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,SSAHASNP,SSMP,TSC-CSHL, | 2 | 0.898861 |
AGPS | chr2 | 178326846 | 178326847 | rs1979058 | - | G | C/T | single | intron | 12 | 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.371012 |
AGPS | chr2 | 178326893 | 178326894 | rs183854039 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.024793 |
AGPS | chr2 | 178326951 | 178326952 | rs2166557 | - | A | C/T | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.888686 |
AGPS | chr2 | 178327133 | 178327134 | rs200932109 | + | G | -/G | deletion | intron | 1 | 1000GENOMES, | 2 | 0.882920 |
AGPS | chr2 | 178327558 | 178327559 | rs28623595 | + | G | A/G | single | intron | 11 | 1000GENOMES,ABI,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,PJP,SSAHASNP,SSMP, | 2 | 0.046533 |
AGPS | chr2 | 178327726 | 178327727 | rs1453370 | + | C | C/T | single | intron | 18 | 1000GENOMES,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.316534 |
AGPS | chr2 | 178327874 | 178327875 | rs76524728 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.987805 |
AGPS | chr2 | 178328038 | 178328039 | rs116853608 | + | T | C/T | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.010009 |
AGPS | chr2 | 178328100 | 178328101 | rs57541536 | + | G | A/G | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.158912 |
AGPS | chr2 | 178329407 | 178329408 | rs111940243 | + | C | C/T | single | intron | 4 | 1000GENOMES,BUSHMAN,SSMP,TISHKOFF, | 2 | 0.971101 |
AGPS | chr2 | 178329934 | 178329935 | rs9789580 | + | C | C/T | single | intron | 17 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.101548 |
AGPS | chr2 | 178330066 | 178330067 | rs11347635 | + | C | C/T | single | intron | 3 | GMI,ILLUMINA,PERLEGEN, | 2 | 0.353846 |
AGPS | chr2 | 178330066 | 178330067 | rs76238344 | + | C | -/C | deletion | intron | 11 | 1000GENOMES,BILGI_BIOE,BUSHMAN,DEVINE_LAB,GMI,HGSV,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.686984 |
AGPS | chr2 | 178330172 | 178330173 | rs9789582 | + | C | C/G | single | intron | 16 | 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.308991 |
AGPS | chr2 | 178330603 | 178330604 | rs2084967 | + | T | C/T | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.902682 |
AGPS | chr2 | 178331205 | 178331206 | rs2084233 | - | G | C/T | single | intron | 19 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.314672 |
AGPS | chr2 | 178331341 | 178331342 | rs76282809 | + | T | G/T | single | intron | 4 | 1000GENOMES,BUSHMAN,SSMP,TISHKOFF, | 2 | 0.027064 |
AGPS | chr2 | 178331412 | 178331413 | rs115997555 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.972125 |
AGPS | chr2 | 178331666 | 178331667 | rs6719114 | + | A | A/G | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.101410 |
AGPS | chr2 | 178332301 | 178332302 | rs1530965 | + | A | A/T | single | intron | 19 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TSC-CSHL,WI_SSAHASNP, | 2 | 0.094002 |
AGPS | chr2 | 178332655 | 178332656 | rs11891003 | + | G | A/G | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.913628 |
AGPS | chr2 | 178333954 | 178333955 | rs80160156 | + | A | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.957317 |
AGPS | chr2 | 178334362 | 178334366 | rs139176708 | + | TTAC | -/TTAC | deletion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.013774 |
AGPS | chr2 | 178335033 | 178335034 | rs16865291 | + | G | G/T | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,GMI,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.845873 |
AGPS | chr2 | 178335124 | 178335125 | rs16865293 | + | G | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA,PERLEGEN, | 2 | 0.015517 |
AGPS | chr2 | 178335175 | 178335176 | rs113321522 | + | A | A/C | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.938073 |
AGPS | chr2 | 178335355 | 178335356 | rs112136982 | + | C | C/T | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,GMI,SSMP,TISHKOFF, | 2 | 0.852045 |
AGPS | chr2 | 178335485 | 178335486 | rs10803911 | + | T | A/T | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP, | 2 | 0.894622 |
AGPS | chr2 | 178335652 | 178335653 | rs77639707 | + | T | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA,SSMP, | 2 | 0.038875 |
AGPS | chr2 | 178335695 | 178335696 | rs10930793 | + | G | A/G | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP, | 2 | 0.894049 |
AGPS | chr2 | 178336156 | 178336157 | rs56406341 | + | A | A/G | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,HGSV,ILLUMINA,TISHKOFF, | 2 | 0.976147 |
AGPS | chr2 | 178336808 | 178336809 | rs10194452 | + | G | A/G | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WUGSC_SSAHASNP, | 2 | 0.902789 |
AGPS | chr2 | 178336812 | 178336812 | rs142979196 | + | - | -/T | insertion | intron | 1 | 1000GENOMES, | 2 | 0.982094 |
AGPS | chr2 | 178336877 | 178336878 | rs10170667 | + | A | A/G | single | intron | 16 | 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WUGSC_SSAHASNP, | 2 | 0.312744 |
AGPS | chr2 | 178336945 | 178336946 | rs80193062 | + | C | C/T | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,GMI,SSMP,TISHKOFF, | 2 | 0.844500 |
AGPS | chr2 | 178337030 | 178337031 | rs10194648 | + | G | A/G | single | intron | 16 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WUGSC_SSAHASNP, | 2 | 0.625675 |
AGPS | chr2 | 178337088 | 178337089 | rs13000048 | + | C | A/C | single | intron | 14 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.550909 |
AGPS | chr2 | 178337248 | 178337249 | rs3769997 | - | G | C/T | single | intron | 7 | 1000GENOMES,BCM-HGSC-SUB,GMI,PERLEGEN,SSMP,TISHKOFF,YUSUKE, | 2 | 0.845508 |
AGPS | chr2 | 178337395 | 178337396 | rs3769996 | - | G | C/T | single | intron | 12 | 1000GENOMES,AFFY,BCM-HGSC-SUB,CSHL-HAPMAP,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.853778 |
AGPS | chr2 | 178337711 | 178337712 | rs1867904 | - | T | A/G | single | intron | 8 | 1000GENOMES,AFFY,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,TISHKOFF,TSC-CSHL, | 2 | 0.966970 |
AGPS | chr2 | 178337880 | 178337881 | rs111582223 | + | C | C/T | single | intron | 2 | 1000GENOMES,BUSHMAN, | 2 | 0.989450 |
AGPS | chr2 | 178338161 | 178338162 | rs4893953 | + | G | A/G | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,WI_SSAHASNP, | 2 | 0.958013 |
AGPS | chr2 | 178339429 | 178339430 | rs16865305 | + | G | A/G | single | intron | 3 | 1000GENOMES,PERLEGEN,SSMP, | 2 | 0.011207 |
AGPS | chr2 | 178340065 | 178340066 | rs201578672 | + | A | -/A | deletion | intron | 3 | 1000GENOMES,LUNTER,SSMP, | 2 | 0.013315 |
AGPS | chr2 | 178340519 | 178340520 | rs4893954 | + | T | C/G/T | single | intron | 13 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.563985 |
AGPS | chr2 | 178340765 | 178340766 | rs6742951 | + | G | C/G | single | intron | 16 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.688982 |
AGPS | chr2 | 178341257 | 178341258 | rs79172243 | + | T | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.010009 |
AGPS | chr2 | 178341288 | 178341290 | rs139718863 | + | AA | -/AA | deletion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.015151 |
AGPS | chr2 | 178341497 | 178341498 | rs79737564 | + | T | C/T | single | intron | 3 | 1000GENOMES,GMI,ILLUMINA, | 2 | 0.024804 |
AGPS | chr2 | 178341687 | 178341688 | rs12997516 | + | G | A/G | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.902873 |
AGPS | chr2 | 178342244 | 178342245 | rs113878019 | + | C | C/T | single | intron | 4 | 1000GENOMES,BUSHMAN,SSMP,TISHKOFF, | 2 | 0.972936 |
AGPS | chr2 | 178342345 | 178342346 | rs115788264 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.975610 |
AGPS | chr2 | 178342346 | 178342347 | rs12612957 | + | A | A/G | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.102914 |
AGPS | chr2 | 178342584 | 178342585 | rs117147804 | + | A | A/T | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.974325 |
AGPS | chr2 | 178343337 | 178343338 | rs79165157 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.988240 |
AGPS | chr2 | 178343392 | 178343393 | rs79580233 | + | A | A/G | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,GMI,SSMP,TISHKOFF, | 2 | 0.844913 |
AGPS | chr2 | 178343545 | 178343546 | rs75747153 | + | G | A/G | single | intron | 5 | 1000GENOMES,BUSHMAN,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.027064 |
AGPS | chr2 | 178344069 | 178344070 | rs62182671 | + | G | A/G | single | intron | 4 | 1000GENOMES,BCMHGSC_JDW,ENSEMBL,ILLUMINA, | 2 | 0.013303 |
AGPS | chr2 | 178344276 | 178344277 | rs79759511 | + | G | C/G | single | intron | 1 | 1000GENOMES, | 2 | 0.010017 |
AGPS | chr2 | 178344498 | 178344499 | rs72935421 | + | G | A/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,GMI,SSMP, | 2 | 0.112385 |
AGPS | chr2 | 178344916 | 178344917 | rs4893828 | + | T | A/T | single | intron | 17 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,WI_SSAHASNP,WUGSC_SSAHASNP, | 2 | 0.863283 |
AGPS | chr2 | 178345153 | 178345154 | rs184393365 | + | A | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.978880 |
AGPS | chr2 | 178345293 | 178345294 | rs7568452 | + | T | C/T | single | intron | 15 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,WI_SSAHASNP,WUGSC_SSAHASNP, | 2 | 0.892040 |
AGPS | chr2 | 178345308 | 178345309 | rs7607450 | + | C | C/T | single | intron | 14 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,WI_SSAHASNP,WUGSC_SSAHASNP, | 2 | 0.309698 |
AGPS | chr2 | 178345336 | 178345337 | rs189142997 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.023416 |
AGPS | chr2 | 178345345 | 178345346 | rs181074857 | + | C | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.019743 |
AGPS | chr2 | 178346573 | 178346574 | rs10497506 | - | T | A/C | single | intron | 7 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BL,BUSHMAN,PERLEGEN,SSMP, | 2 | 0.899038 |
AGPS | chr2 | 178346654 | 178346664 | rs140823121 | + | CCATTATTCC | -/CCATTATTCC | deletion | intron | 4 | 1000GENOMES,GMI,LUNTER,WARNICH_LAB, | 2 | 0.196970 |
AGPS | chr2 | 178346853 | 178346854 | rs115580413 | + | C | C/G | single | coding-synon | 2 | 1000GENOMES,NHLBI-ESP, | 2 | 0.983617 |
AGPS | chr2 | 178347574 | 178347575 | rs17398864 | + | A | A/T | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.908657 |
AGPS | chr2 | 178347588 | 178347589 | rs113458294 | + | T | A/T | single | intron | 4 | 1000GENOMES,BUSHMAN,SSMP,TISHKOFF, | 2 | 0.027064 |
AGPS | chr2 | 178347693 | 178347694 | rs112392569 | + | G | A/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,TISHKOFF, | 2 | 0.020183 |
AGPS | chr2 | 178348443 | 178348444 | rs10190306 | + | A | A/T | single | intron | 19 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WUGSC_SSAHASNP, | 2 | 0.104364 |
AGPS | chr2 | 178348619 | 178348620 | rs3769995 | - | A | C/T | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,GMI,SSMP,TISHKOFF,YUSUKE, | 2 | 0.153698 |
AGPS | chr2 | 178349065 | 178349066 | rs76622396 | + | G | C/G | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,GMI,SSMP,TISHKOFF, | 2 | 0.164826 |
AGPS | chr2 | 178350153 | 178350154 | rs7573086 | + | G | A/G | single | intron | 6 | 1000GENOMES,AFFY,COMPLETE_GENOMICS,KRIBB_YJKIM,TISHKOFF,WI_SSAHASNP, | 2 | 0.032028 |
AGPS | chr2 | 178350888 | 178350889 | rs77607947 | + | C | C/G | single | intron | 1 | 1000GENOMES, | 2 | 0.989547 |
AGPS | chr2 | 178351566 | 178351567 | rs1545363 | - | C | C/G | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP,WUGSC_SSAHASNP, | 2 | 0.905747 |
AGPS | chr2 | 178351604 | 178351605 | rs2364851 | + | G | A/G | single | intron | 20 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP,WUGSC_SSAHASNP, | 2 | 0.894383 |
AGPS | chr2 | 178352089 | 178352090 | rs75862717 | + | A | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.959023 |
AGPS | chr2 | 178352117 | 178352118 | rs62182673 | + | A | A/G | single | intron | 4 | 1000GENOMES,BCMHGSC_JDW,ENSEMBL,ILLUMINA, | 2 | 0.988532 |
AGPS | chr2 | 178352126 | 178352127 | rs13007779 | + | T | C/T | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.905523 |
AGPS | chr2 | 178352190 | 178352191 | rs57733896 | + | T | A/T | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.153846 |
AGPS | chr2 | 178352246 | 178352247 | rs74825098 | + | A | A/C | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.956446 |
AGPS | chr2 | 178352426 | 178352427 | rs74944609 | + | G | A/G | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.024804 |
AGPS | chr2 | 178352683 | 178352684 | rs2166556 | - | A | C/T | single | intron | 19 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.909339 |
AGPS | chr2 | 178352745 | 178352746 | rs6433670 | + | G | A/G | single | intron | 18 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 3 | 0.656347 |
AGPS | chr2 | 178353381 | 178353382 | rs12618139 | + | A | A/G | single | intron | 10 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,CSHL-HAPMAP,GMI,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.851471 |
AGPS | chr2 | 178353831 | 178353832 | rs191692327 | + | A | A/T | single | intron | 1 | 1000GENOMES, | 2 | 0.986226 |
AGPS | chr2 | 178354171 | 178354172 | rs2364852 | + | C | C/T | single | intron | 17 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.104518 |
AGPS | chr2 | 178354310 | 178354311 | rs7568487 | + | G | A/G | single | intron | 7 | 1000GENOMES,COMPLETE_GENOMICS,HGSV,ILLUMINA,KRIBB_YJKIM,TISHKOFF,WI_SSAHASNP, | 2 | 0.026355 |
AGPS | chr2 | 178354702 | 178354703 | rs145090163 | + | T | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.013774 |
AGPS | chr2 | 178355533 | 178355534 | rs57295810 | + | G | G/T | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.839905 |
AGPS | chr2 | 178355590 | 178355590 | rs201613973 | + | - | -/G | insertion | intron | 1 | 1000GENOMES, | 2 | 0.984389 |
AGPS | chr2 | 178355828 | 178355829 | rs6725096 | + | G | G/T | single | intron | 14 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP, | 2 | 0.107208 |
AGPS | chr2 | 178355870 | 178355870 | rs112217782 | + | - | -/CATA | insertion | intron | 5 | 1000GENOMES,BILGI_BIOE,BL,BUSHMAN,LUNTER, | 2 | 0.330734 |
AGPS | chr2 | 178355996 | 178355997 | rs6725331 | + | G | G/T | single | intron | 9 | BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP, | 2 | 0.095238 |
AGPS | chr2 | 178356373 | 178356374 | rs114625839 | + | T | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.029181 |
AGPS | chr2 | 178356415 | 178356416 | rs7589927 | + | T | C/T | single | intron | 19 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,WUGSC_SSAHASNP, | 2 | 0.903496 |
AGPS | chr2 | 178356723 | 178356724 | rs2044493 | - | C | C/G | single | intron | 19 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TSC-CSHL,WI_SSAHASNP,WUGSC_SSAHASNP, | 2 | 0.904110 |
AGPS | chr2 | 178356873 | 178356874 | rs73031241 | + | T | C/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.016055 |
AGPS | chr2 | 178357462 | 178357463 | rs199690361 | + | A | -/A | deletion | intron | 3 | 1000GENOMES,SSMP,TISHKOFF, | 2 | 0.016529 |
AGPS | chr2 | 178357644 | 178357645 | rs57681892 | + | G | A/C/G | single | intron | 5 | 1000GENOMES,BCMHGSC_JDW,ENSEMBL,GMI,HGSV, | 2 | 0.631651 |
AGPS | chr2 | 178357836 | 178357837 | rs16865309 | + | A | A/G | single | intron | 9 | 1000GENOMES,BUSHMAN,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,TISHKOFF, | 2 | 0.945465 |
AGPS | chr2 | 178358071 | 178358072 | rs1348849 | - | C | A/G | single | intron | 17 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PJP,SC_JCM,SSMP,TSC-CSHL,YUSUKE, | 2 | 0.684895 |
AGPS | chr2 | 178358232 | 178358233 | rs1348848 | - | G | A/C | single | intron | 17 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA-UK,KRIBB_YJKIM,SC_JCM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.672658 |
AGPS | chr2 | 178358280 | 178358281 | rs12469386 | + | C | C/T | single | intron | 18 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.473133 |
AGPS | chr2 | 178358344 | 178358345 | rs1992789 | - | T | A/G | single | intron | 18 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.000000 |
AGPS | chr2 | 178358372 | 178358373 | rs79454555 | + | G | C/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.043118 |
AGPS | chr2 | 178358400 | 178358401 | rs80277326 | + | G | C/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.043554 |
AGPS | chr2 | 178358873 | 178358874 | rs73031244 | + | G | A/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.015596 |
AGPS | chr2 | 178359199 | 178359200 | rs12478545 | + | A | A/G | single | intron | 17 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.104727 |
AGPS | chr2 | 178359575 | 178359576 | rs4893955 | + | A | A/G | single | intron | 20 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.109240 |
AGPS | chr2 | 178360074 | 178360075 | rs17326999 | + | G | A/G | single | intron | 10 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.092404 |
AGPS | chr2 | 178362571 | 178362572 | rs12468046 | + | G | A/G | single | intron | 17 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP, | 2 | 0.900923 |
AGPS | chr2 | 178362863 | 178362864 | rs79976563 | + | G | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.023955 |
AGPS | chr2 | 178363099 | 178363100 | rs77137437 | + | G | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA,SSMP, | 2 | 0.023955 |
AGPS | chr2 | 178363300 | 178363301 | rs10497505 | - | T | A/T | single | intron | 8 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.431158 |
AGPS | chr2 | 178363353 | 178363354 | rs140657607 | + | T | -/T | deletion | intron | 3 | 1000GENOMES,LUNTER,SSMP, | 2 | 0.098714 |
AGPS | chr2 | 178363355 | 178363357 | rs201293675 | + | TA | -/TA | deletion | intron | 1 | 1000GENOMES, | 2 | 0.093664 |
AGPS | chr2 | 178363422 | 178363423 | rs1374437 | - | T | A/G | single | intron | 19 | 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.406453 |
AGPS | chr2 | 178364000 | 178364001 | rs6736063 | + | C | C/G | single | intron | 4 | 1000GENOMES,BCM_SSAHASNP,ILLUMINA-UK,TISHKOFF, | 2 | 0.975000 |
AGPS | chr2 | 178364490 | 178364491 | rs77741011 | + | G | C/G | single | intron | 4 | 1000GENOMES,ILLUMINA,NHLBI-ESP,SSMP, | 2 | 0.012631 |
AGPS | chr2 | 178364804 | 178364805 | rs13420517 | + | T | G/T | single | intron | 5 | 1000GENOMES,BUSHMAN,ILLUMINA-UK,TISHKOFF,WUGSC_SSAHASNP, | 2 | 0.031502 |
AGPS | chr2 | 178365282 | 178365283 | rs200479997 | + | T | -/T | deletion | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.013774 |
AGPS | chr2 | 178365380 | 178365381 | rs59421055 | + | A | A/G | single | intron | 7 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.838917 |
AGPS | chr2 | 178365701 | 178365702 | rs76053408 | + | C | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.975610 |
AGPS | chr2 | 178366402 | 178366403 | rs146068136 | + | G | A/G | single | intron | 4 | 1000GENOMES,GMI,SSMP,TISHKOFF, | 2 | 0.136823 |
AGPS | chr2 | 178366606 | 178366607 | rs112117801 | + | G | A/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,SSMP, | 2 | 0.011927 |
AGPS | chr2 | 178366804 | 178366805 | rs79212353 | + | A | A/G | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.989983 |
AGPS | chr2 | 178366977 | 178366978 | rs201947284 | + | A | -/A | deletion | intron | 1 | 1000GENOMES, | 2 | 0.033976 |
AGPS | chr2 | 178367429 | 178367430 | rs9288002 | + | G | A/G | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WUGSC_SSAHASNP, | 2 | 0.876481 |
AGPS | chr2 | 178367608 | 178367608 | rs58497344 | + | - | -/C | insertion | intron | 11 | 1000GENOMES,BGI,BILGI_BIOE,DEVINE_LAB,GMI,HGSV,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.107339 |
AGPS | chr2 | 178367883 | 178367884 | rs115791829 | + | A | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.989983 |
AGPS | chr2 | 178368100 | 178368101 | rs73031249 | + | G | A/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.032110 |
AGPS | chr2 | 178368342 | 178368343 | rs11689608 | + | G | A/G | single | intron | 10 | 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP, | 2 | 0.113291 |
AGPS | chr2 | 178368996 | 178368997 | rs2218575 | + | C | A/C | single | intron | 22 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WUGSC_SSAHASNP, | 2 | 0.885036 |
AGPS | chr2 | 178369035 | 178369036 | rs2197611 | + | G | C/G | single | intron | 21 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WUGSC_SSAHASNP, | 2 | 0.706010 |
AGPS | chr2 | 178369142 | 178369143 | rs79781202 | + | G | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.024007 |
AGPS | chr2 | 178369432 | 178369433 | rs935426 | + | T | C/T | single | intron | 20 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TSC-CSHL,WUGSC_SSAHASNP, | 2 | 0.902014 |
AGPS | chr2 | 178370039 | 178370040 | rs10497504 | - | T | A/G | single | intron | 18 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.075387 |
AGPS | chr2 | 178370379 | 178370380 | rs16865316 | + | T | A/T | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,ILLUMINA-UK,PERLEGEN,TISHKOFF, | 2 | 0.082905 |
AGPS | chr2 | 178370427 | 178370428 | rs77438433 | + | C | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.975174 |
AGPS | chr2 | 178370630 | 178370631 | rs7582179 | + | A | A/G | single | intron | 18 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.110888 |
AGPS | chr2 | 178370947 | 178370947 | rs11410662 | + | - | -/T | insertion | intron | 9 | 1000GENOMES,BGI,BILGI_BIOE,DEVINE_LAB,GMI,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, | 2 | 0.117890 |
AGPS | chr2 | 178371378 | 178371379 | rs79713010 | + | C | C/T | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,GMI,SSMP,TISHKOFF, | 2 | 0.856493 |
AGPS | chr2 | 178371616 | 178371617 | rs138875922 | + | T | -/T | deletion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.013315 |
AGPS | chr2 | 178371624 | 178371625 | rs201252138 | + | A | -/A | deletion | intron | 1 | 1000GENOMES, | 2 | 0.013315 |
AGPS | chr2 | 178371738 | 178371739 | rs10497503 | - | G | A/C | single | intron | 17 | 1000GENOMES,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.589456 |
AGPS | chr2 | 178371762 | 178371763 | rs199633296 | + | C | -/C | deletion | intron | 1 | 1000GENOMES, | 2 | 0.031680 |
AGPS | chr2 | 178371769 | 178371770 | rs141850290 | + | T | -/T | deletion | intron | 3 | 1000GENOMES,LUNTER,TISHKOFF, | 2 | 0.026630 |
AGPS | chr2 | 178371920 | 178371921 | rs7595576 | + | C | C/T | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.127545 |
AGPS | chr2 | 178371943 | 178371944 | rs79194368 | + | T | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.025261 |
AGPS | chr2 | 178372538 | 178372539 | rs76586354 | + | G | C/G | single | intron | 1 | 1000GENOMES, | 2 | 0.010017 |
AGPS | chr2 | 178373451 | 178373452 | rs4893956 | + | C | C/T | single | intron | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,WI_SSAHASNP, | 2 | 0.116520 |
AGPS | chr2 | 178373651 | 178373652 | rs2166558 | + | G | G/T | single | intron | 16 | 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.303366 |
AGPS | chr2 | 178374111 | 178374112 | rs2141157 | + | C | C/T | single | intron | 19 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.119654 |
AGPS | chr2 | 178374174 | 178374175 | rs147797763 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.989899 |
AGPS | chr2 | 178374351 | 178374352 | rs10930794 | + | T | C/T | single | intron | 14 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.930657 |
AGPS | chr2 | 178374380 | 178374381 | rs112246420 | + | G | A/G | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,GMI,SSMP,TISHKOFF, | 2 | 0.130854 |
AGPS | chr2 | 178374787 | 178374788 | rs2178017 | + | G | G/T | single | intron | 22 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.110174 |
AGPS | chr2 | 178375064 | 178375065 | rs7607073 | + | C | A/C | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.887067 |
AGPS | chr2 | 178375634 | 178375635 | rs73976747 | + | C | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA-UK,TISHKOFF, | 2 | 0.975688 |
AGPS | chr2 | 178376144 | 178376145 | rs77170251 | + | A | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.974739 |
AGPS | chr2 | 178376174 | 178376175 | rs80339394 | + | A | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.975579 |
AGPS | chr2 | 178376274 | 178376275 | rs146294068 | + | A | A/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.984389 |
AGPS | chr2 | 178376679 | 178376680 | rs2364853 | + | G | G/T | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,GMI,TISHKOFF,TSC-CSHL, | 2 | 0.860215 |
AGPS | chr2 | 178376682 | 178376683 | rs5001527 | + | C | C/T | single | intron | 3 | 1000GENOMES,DEVINE_LAB,GMI, | 2 | 0.870983 |
AGPS | chr2 | 178376682 | 178376684 | rs201822426 | + | CA | -/CA | deletion | intron | 1 | 1000GENOMES, | 2 | 0.131772 |
AGPS | chr2 | 178376683 | 178376684 | rs1374438 | + | A | A/G | single | intron | 19 | 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WUGSC_SSAHASNP, | 2 | 0.119728 |
AGPS | chr2 | 178377087 | 178377090 | rs201775844 | + | AAG | -/AAG | deletion | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.011478 |
AGPS | chr2 | 178377132 | 178377133 | rs6710109 | + | C | C/G | single | intron | 18 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP, | 2 | 0.118805 |
AGPS | chr2 | 178377310 | 178377311 | rs6710575 | + | G | A/G | single | intron | 21 | 1000GENOMES,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.688167 |
AGPS | chr2 | 178377792 | 178377793 | rs60642012 | + | A | A/G | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.854012 |
AGPS | chr2 | 178377813 | 178377816 | rs10528684 | + | ATT | -/ATT | deletion | intron | 7 | 1000GENOMES,BILGI_BIOE,BUSHMAN,DEVINE_LAB,GMI,LUNTER,SSMP, | 2 | 0.880734 |
AGPS | chr2 | 178378174 | 178378175 | rs6433672 | + | C | A/C | single | intron | 22 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,WUGSC_SSAHASNP, | 2 | 0.891414 |
AGPS | chr2 | 178378451 | 178378452 | rs2364854 | + | T | A/T | single | intron | 17 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.566616 |
AGPS | chr2 | 178379250 | 178379251 | rs148740013 | + | C | -/C | deletion | intron | 3 | 1000GENOMES,LUNTER,TISHKOFF, | 2 | 0.030762 |
AGPS | chr2 | 178379374 | 178379375 | rs76080796 | + | T | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.013925 |
AGPS | chr2 | 178379782 | 178379783 | rs4243389 | + | G | C/G | single | intron | 21 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,DEVINE_LAB,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.883249 |
AGPS | chr2 | 178380196 | 178380197 | rs77566789 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.989547 |
AGPS | chr2 | 178380408 | 178380409 | rs4893957 | + | A | A/G | single | intron | 21 | 1000GENOMES,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,WUGSC_SSAHASNP, | 2 | 0.308397 |
AGPS | chr2 | 178380644 | 178380645 | rs10497502 | - | T | A/G | single | intron | 9 | 1000GENOMES,AFFY,BCM-HGSC-SUB,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.803141 |
AGPS | chr2 | 178380678 | 178380679 | rs11334084 | + | G | -/G | deletion | intron | 10 | 1000GENOMES,BGI,BILGI_BIOE,DEVINE_LAB,GMI,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.890367 |
AGPS | chr2 | 178381115 | 178381116 | rs13023655 | + | A | A/T | single | intron | 12 | 1000GENOMES,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP, | 2 | 0.140768 |
AGPS | chr2 | 178382622 | 178382623 | rs75598250 | + | T | C/T | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,GMI,SSMP,TISHKOFF, | 2 | 0.188091 |
AGPS | chr2 | 178383035 | 178383036 | rs6433673 | + | C | C/T | single | intron | 16 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.293662 |
AGPS | chr2 | 178383091 | 178383092 | rs78992549 | + | A | A/G | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,GMI,SSMP,TISHKOFF, | 2 | 0.842975 |
AGPS | chr2 | 178383151 | 178383152 | rs6433674 | + | A | A/G | single | intron | 19 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.100309 |
AGPS | chr2 | 178383195 | 178383196 | rs116264315 | + | G | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.025261 |
AGPS | chr2 | 178383627 | 178383628 | rs78264343 | + | A | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.976916 |
AGPS | chr2 | 178384268 | 178384269 | rs73976751 | + | T | G/T | single | intron | 2 | 1000GENOMES,ILLUMINA-UK, | 2 | 0.010550 |
AGPS | chr2 | 178385252 | 178385261 | rs150816615 | + | TGTTTACTG | -/TGTTTACTG | deletion | intron | 3 | 1000GENOMES,GMI,LUNTER, | 2 | 0.146465 |
AGPS | chr2 | 178385559 | 178385559 | rs200386824 | + | - | -/TA | insertion | intron | 1 | 1000GENOMES, | 2 | 0.989899 |
AGPS | chr2 | 178385567 | 178385571 | rs148855378 | + | TATT | -/TATT | deletion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.021120 |
AGPS | chr2 | 178387099 | 178387100 | rs1345138 | + | A | A/T | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.109793 |
AGPS | chr2 | 178387107 | 178387108 | rs140660077 | + | G | A/G | single | intron | 3 | 1000GENOMES,SSMP,TISHKOFF, | 2 | 0.026630 |
AGPS | chr2 | 178387546 | 178387547 | rs12615367 | + | C | C/T | single | intron | 10 | 1000GENOMES,ABI,BCM-HGSC-SUB,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,KRIBB_YJKIM,SSMP,TISHKOFF, | 2 | 0.810187 |
AGPS | chr2 | 178387614 | 178387615 | rs12616093 | + | G | C/G | single | intron | 9 | 1000GENOMES,ABI,BCM-HGSC-SUB,CSHL-HAPMAP,ENSEMBL,GMI,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.145681 |
AGPS | chr2 | 178388163 | 178388164 | rs16865328 | + | T | G/T | single | intron | 7 | 1000GENOMES,BCM-HGSC-SUB,CSHL-HAPMAP,GMI,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.148162 |
AGPS | chr2 | 178389401 | 178389402 | rs77255083 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.983014 |
AGPS | chr2 | 178389610 | 178389611 | rs77510470 | + | T | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA,SSMP, | 2 | 0.023084 |
AGPS | chr2 | 178389768 | 178389769 | rs75495251 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.983014 |
AGPS | chr2 | 178390049 | 178390050 | rs78543968 | + | T | C/T | single | intron | 2 | 1000GENOMES,GMI, | 2 | 0.047291 |
AGPS | chr2 | 178390428 | 178390429 | rs1867905 | + | G | A/G | single | intron | 19 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TSC-CSHL,WI_SSAHASNP, | 2 | 0.883679 |
AGPS | chr2 | 178390537 | 178390538 | rs79321404 | + | T | G/T | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.016988 |
AGPS | chr2 | 178390607 | 178390608 | rs114741850 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.989983 |
AGPS | chr2 | 178390777 | 178390778 | rs7588049 | + | T | C/T | single | intron | 20 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.885430 |
AGPS | chr2 | 178391346 | 178391347 | rs80295959 | + | G | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.010444 |
AGPS | chr2 | 178391358 | 178391359 | rs74771135 | + | A | A/G | single | intron | 3 | 1000GENOMES,BCM-HGSC-SUB,ILLUMINA, | 2 | 0.989440 |
AGPS | chr2 | 178391579 | 178391580 | rs76542912 | + | G | A/G | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.149448 |
AGPS | chr2 | 178392331 | 178392332 | rs7604668 | + | A | A/T | single | intron | 17 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,WI_SSAHASNP, | 2 | 0.105378 |
AGPS | chr2 | 178392345 | 178392346 | rs7604673 | + | A | A/G | single | intron | 17 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_SNP,SSAHASNP,SSMP,WI_SSAHASNP, | 2 | 0.309592 |
AGPS | chr2 | 178392554 | 178392555 | rs16865331 | + | G | A/G | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,CSHL-HAPMAP,GMI,PERLEGEN,SSMP, | 2 | 0.166545 |
AGPS | chr2 | 178392957 | 178392958 | rs75378474 | + | A | A/G | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,GMI,SSMP,TISHKOFF, | 2 | 0.838328 |
AGPS | chr2 | 178393323 | 178393324 | rs77422409 | + | G | A/G | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,GMI,SSMP,TISHKOFF, | 2 | 0.157568 |
AGPS | chr2 | 178393772 | 178393773 | rs111237427 | + | C | C/T | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,GMI,SSMP,TISHKOFF, | 2 | 0.839761 |
AGPS | chr2 | 178394004 | 178394005 | rs28552775 | + | G | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA-UK,SSAHASNP, | 2 | 0.018349 |
AGPS | chr2 | 178394233 | 178394234 | rs10180514 | + | T | C/T | single | intron | 21 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WUGSC_SSAHASNP, | 2 | 0.895138 |
AGPS | chr2 | 178394926 | 178394927 | rs59086514 | + | A | A/G | single | intron | 5 | 1000GENOMES,BUSHMAN,HGSV,SSMP,TISHKOFF, | 2 | 0.972936 |
AGPS | chr2 | 178395001 | 178395002 | rs6740156 | + | G | A/G | single | intron | 5 | 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,PERLEGEN,TISHKOFF, | 2 | 0.033187 |
AGPS | chr2 | 178395056 | 178395057 | rs6433675 | + | G | A/G | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,WI_SSAHASNP, | 2 | 0.898676 |
AGPS | chr2 | 178395090 | 178395091 | rs6433676 | + | G | G/T | single | intron | 19 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,WUGSC_SSAHASNP, | 2 | 0.098837 |
AGPS | chr2 | 178395691 | 178395692 | rs35231714 | + | A | A/G | single | intron | 6 | 1000GENOMES,ABI,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,PJP, | 2 | 0.962420 |
AGPS | chr2 | 178395695 | 178395696 | rs115003707 | + | T | A/T | single | intron | 3 | 1000GENOMES,SSMP,TISHKOFF, | 2 | 0.039321 |
AGPS | chr2 | 178396016 | 178396017 | rs6715365 | + | A | A/G | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WUGSC_SSAHASNP, | 2 | 0.099234 |
AGPS | chr2 | 178396285 | 178396286 | rs6744488 | + | G | A/G | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WUGSC_SSAHASNP, | 2 | 0.894555 |
AGPS | chr2 | 178397470 | 178397471 | rs6433677 | + | G | A/G | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.894113 |
AGPS | chr2 | 178397534 | 178397535 | rs79715051 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.972997 |
AGPS | chr2 | 178397682 | 178397683 | rs76162661 | + | T | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.010889 |
AGPS | chr2 | 178398478 | 178398479 | rs16865334 | + | A | A/G | single | intron | 7 | 1000GENOMES,AFFY,COMPLETE_GENOMICS,ILLUMINA,KRIBB_YJKIM,PERLEGEN,TISHKOFF, | 2 | 0.945431 |
AGPS | chr2 | 178398690 | 178398691 | rs115757844 | + | T | G/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.010009 |
AGPS | chr2 | 178398922 | 178398923 | rs13004955 | + | T | A/T | single | intron | 18 | 1000GENOMES,AFFY,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.713412 |
AGPS | chr2 | 178399273 | 178399274 | rs74754224 | + | C | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA-UK, | 2 | 0.958716 |
AGPS | chr2 | 178399559 | 178399563 | rs201020818 | + | TAAA | -/TAAA | deletion | intron | 1 | 1000GENOMES, | 2 | 0.854913 |
AGPS | chr2 | 178399563 | 178399572 | rs11276227 | + | TGATCTTCC | -/TGATCTTCC | deletion | intron | 8 | 1000GENOMES,BCMHGSC_JDW,BILGI_BIOE,BUSHMAN,DEVINE_LAB,GMI,LUNTER,SSMP, | 2 | 0.853211 |
AGPS | chr2 | 178399750 | 178399751 | rs115309134 | + | T | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.011324 |
AGPS | chr2 | 178399809 | 178399810 | rs4893829 | + | C | C/T | single | intron | 21 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.115798 |
AGPS | chr2 | 178400181 | 178400182 | rs59016431 | + | C | -/C | deletion | intron | 12 | 1000GENOMES,BGI,BILGI_BIOE,BUSHMAN,DEVINE_LAB,GMI,HGSV,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.647571 |
AGPS | chr2 | 178400203 | 178400204 | rs4893959 | + | G | A/G | single | intron | 19 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.637981 |
AGPS | chr2 | 178400638 | 178400639 | rs80276864 | + | T | G/T | single | intron | 1 | 1000GENOMES, | 2 | 0.013502 |
AGPS | chr2 | 178400952 | 178400953 | rs73976777 | + | T | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA-UK,TISHKOFF, | 2 | 0.024312 |
AGPS | chr2 | 178401287 | 178401288 | rs7606235 | + | T | C/T | single | intron | 17 | 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.719317 |
AGPS | chr2 | 178402087 | 178402087 | rs146259287 | + | - | -/A | insertion | intron | 4 | 1000GENOMES,BILGI_BIOE,LUNTER,SSMP, | 2 | 0.890725 |
AGPS | chr2 | 178402406 | 178402407 | rs12693121 | + | G | A/G | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WUGSC_SSAHASNP, | 2 | 0.901015 |
AGPS | chr2 | 178402614 | 178402615 | rs115623388 | + | C | C/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.987369 |
AGPS | chr2 | 178402785 | 178402786 | rs3213945 | + | G | G/T | single | intron | 10 | 1000GENOMES,BCM-HGSC-SUB,CLINSEQ_SNP,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.854268 |
AGPS | chr2 | 178403299 | 178403300 | rs112754713 | + | C | C/G | single | untranslated-3 | 3 | 1000GENOMES,BUSHMAN,ILLUMINA, | 2 | 0.985780 |
AGPS | chr2 | 178403471 | 178403472 | rs3171912 | + | A | A/C | single | untranslated-3 | 1 | LEE, | 2 | 0.000000 |
AGPS | chr2 | 178403474 | 178403475 | rs115060780 | + | T | G/T | single | untranslated-3 | 1 | 1000GENOMES, | 2 | 0.016986 |
AGPS | chr2 | 178404028 | 178404029 | rs116688077 | + | A | A/T | single | untranslated-3 | 1 | 1000GENOMES, | 2 | 0.985192 |
AGPS | chr2 | 178404635 | 178404638 | rs143451487 | + | TGA | -/TGA | deletion | cds-indel | 2 | 1000GENOMES,LUNTER, | 2 | 0.025712 |
AGPS | chr2 | 178404735 | 178404735 | rs139584283 | + | - | -/AAAG | insertion | untranslated-3 | 3 | 1000GENOMES,BILGI_BIOE,LUNTER, | 2 | 0.108815 |
AGPS | chr2 | 178404788 | 178404789 | rs74500978 | + | A | A/G | single | untranslated-3 | 5 | 1000GENOMES,BCM-HGSC-SUB,ENSEMBL,GMI,PJP, | 2 | 0.203941 |
AGPS | chr2 | 178404816 | 178404817 | rs187422259 | + | A | A/G | single | untranslated-3 | 1 | 1000GENOMES, | 2 | 0.983012 |
AGPS | chr2 | 178405470 | 178405471 | rs76966937 | + | A | A/G | single | untranslated-3 | 5 | 1000GENOMES,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.986510 |
AGPS | chr2 | 178405558 | 178405559 | rs77450843 | + | G | C/G | single | untranslated-3 | 2 | 1000GENOMES,SSMP, | 2 | 0.025261 |
AGPS | chr2 | 178406480 | 178406481 | rs8941 | + | C | C/T | single | untranslated-3 | 20 | 1000GENOMES,BCMHGSC_JDW,BGI,BUSHMAN,CGAP-GAI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,LEE,PERLEGEN,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.302832 |
AGPS | chr2 | 178406769 | 178406769 | rs5836610 | + | - | -/T | insertion | untranslated-3 | 11 | 1000GENOMES,BGI,BILGI_BIOE,BUSHMAN,DEVINE_LAB,GMI,HGSV,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, | 2 | 0.126948 |
AGPS | chr2 | 178407175 | 178407176 | rs10803912 | + | C | A/C | single | untranslated-3 | 23 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.884398 |
AGPS | chr2 | 178407438 | 178407440 | rs3215354 | + | AT | -/AT | deletion | untranslated-3 | 6 | 1000GENOMES,GMI,LUNTER,SSMP,TISHKOFF,YUSUKE, | 2 | 0.173554 |
AGPS | chr2 | 178407540 | 178407541 | rs75827012 | + | A | A/G | single | untranslated-3 | 3 | 1000GENOMES,ILLUMINA,SSMP, | 2 | 0.975579 |
AGPS | chr2 | 178407743 | 178407744 | rs28576781 | + | C | C/T | single | untranslated-3 | 5 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,SSAHASNP,TISHKOFF, | 2 | 0.968807 |
AGPS | chr2 | 178407896 | 178407897 | rs2293475 | + | T | C/T | single | untranslated-3 | 22 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WUGSC_SSAHASNP,YUSUKE, | 2 | 0.884842 |
AIFM1 | chrX | 129264825 | 129264826 | rs139484016 | + | C | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.983071 |
AIFM1 | chrX | 129265393 | 129265394 | rs210023 | - | A | C/T | single | intron | 23 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SI_EXO,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 3 | 0.038061 |
AIFM1 | chrX | 129267708 | 129267709 | rs190380944 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.987908 |
AIFM1 | chrX | 129268388 | 129268389 | rs586041 | - | T | A/T | single | intron | 14 | 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA-UK,PERLEGEN,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 3 | 0.010835 |
AIFM1 | chrX | 129269779 | 129269780 | rs209997 | + | G | C/G | single | intron | 18 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 3 | 0.005865 |
AIFM1 | chrX | 129269979 | 129269980 | rs209998 | + | G | A/G | single | intron | 24 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,NHLBI-ESP,PERLEGEN,PJP,SC_JCM,SC_SNP,SI_EXO,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 5 | 0.015764 |
AIFM1 | chrX | 129271131 | 129271132 | rs12007545 | + | T | C/T | single | coding-synon,untranslated-3,untranslated-5 | 9 | 1000GENOMES,ABI,CLINSEQ_SNP,CSHL-HAPMAP,ENSEMBL,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,TISHKOFF, | 2 | 0.032759 |
AIFM1 | chrX | 129271797 | 129271798 | rs142046747 | + | G | A/G | single | intron,untranslated-5 | 1 | 1000GENOMES, | 2 | 0.012696 |
AIFM1 | chrX | 129272440 | 129272441 | rs12010190 | + | A | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,TISHKOFF, | 2 | 0.980048 |
AIFM1 | chrX | 129272448 | 129272449 | rs182805215 | + | T | A/T | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.029021 |
AIFM1 | chrX | 129272448 | 129272449 | rs200686111 | + | T | -/T | deletion | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.024184 |
AIFM1 | chrX | 129272519 | 129272520 | rs12014323 | + | C | C/T | single | intron,near-gene-5 | 9 | 1000GENOMES,ABI,AFFY,CSHL-HAPMAP,ENSEMBL,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,TISHKOFF, | 2 | 0.968689 |
AIFM1 | chrX | 129272616 | 129272617 | rs12014115 | + | G | A/G | single | coding-synon,intron,near-gene-5 | 9 | 1000GENOMES,ABI,CLINSEQ_SNP,CSHL-HAPMAP,ENSEMBL,ILLUMINA,NHLBI-ESP,SSAHASNP,TISHKOFF, | 2 | 0.033072 |
AIFM1 | chrX | 129273247 | 129273248 | rs209999 | + | A | A/G | single | intron,near-gene-5 | 14 | 1000GENOMES,ABI,BCMHGSC_JDW,ENSEMBL,GMI,HGSV,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.553679 |
AIFM1 | chrX | 129274955 | 129274956 | rs210000 | + | C | C/T | single | intron | 17 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 3 | 0.003544 |
AIFM1 | chrX | 129277092 | 129277093 | rs188336 | + | T | G/T | single | intron | 15 | 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.444498 |
AIFM1 | chrX | 129277887 | 129277888 | rs176708 | + | G | G/T | single | intron | 21 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.522195 |
AIFM1 | chrX | 129277963 | 129277964 | rs5977212 | + | A | A/C | single | intron | 3 | 1000GENOMES,SC_SNP,TISHKOFF, | 2 | 0.980048 |
AIFM1 | chrX | 129278201 | 129278202 | rs7050171 | + | C | C/G | single | intron | 4 | 1000GENOMES,AFFY,BCM_SSAHASNP,KRIBB_YJKIM, | 2 | 0.989401 |
AIFM1 | chrX | 129279022 | 129279023 | rs73225599 | + | C | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.975816 |
AIFM1 | chrX | 129279647 | 129279648 | rs12559753 | + | C | C/T | single | intron | 7 | 1000GENOMES,BCMHGSC_JDW,CSHL-HAPMAP,ENSEMBL,ILLUMINA,SI_EXO,SSMP, | 2 | 0.922356 |
AIFM1 | chrX | 129280279 | 129280280 | rs210001 | + | G | A/G | single | intron | 17 | 1000GENOMES,ABI,BCM_SSAHASNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.431184 |
AIFM1 | chrX | 129280719 | 129280720 | rs210002 | + | A | A/G | single | intron | 21 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 5 | 0.014127 |
AIFM1 | chrX | 129280767 | 129280768 | rs210003 | + | C | C/T | single | intron | 20 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 2 | 0.536552 |
AIFM1 | chrX | 129281845 | 129281846 | rs61730894 | + | C | C/T | single | intron,missense | 1 | CORNELL, | 2 | 0.987179 |
AIFM1 | chrX | 129281937 | 129281938 | rs149692850 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.010278 |
AIFM1 | chrX | 129282230 | 129282231 | rs210004 | + | C | C/T | single | intron | 18 | 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 3 | 0.014369 |
AIFM1 | chrX | 129282582 | 129282583 | rs188337 | + | C | C/T | single | intron | 9 | 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,KWOK,SSMP,TISHKOFF, | 2 | 0.571687 |
AIFM1 | chrX | 129282803 | 129282804 | rs187065966 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.983071 |
AIFM1 | chrX | 129282999 | 129283000 | rs142298610 | + | G | G/T | single | intron | 1 | 1000GENOMES, | 2 | 0.980048 |
AIFM1 | chrX | 129283124 | 129283125 | rs35075538 | + | G | A/G | single | intron | 8 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.445247 |
AIFM1 | chrX | 129283519 | 129283520 | rs1139851 | - | A | C/T | single | coding-synon,intron | 27 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BUSHMAN,CANCER-GENOME,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,LEE,NHLBI-ESP,PERLEGEN,PJP,SC_SNP,SEATTLESEQ,SEQUENOM,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 3 | 0.003894 |
AIFM1 | chrX | 129283660 | 129283661 | rs150442514 | + | T | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.016324 |
AIFM1 | chrX | 129283785 | 129283786 | rs3213522 | + | A | A/G | single | intron | 15 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA-UK,PJP,SC_SNP,SI_EXO,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.528537 |
AIFM1 | chrX | 129284395 | 129284396 | rs7058548 | + | T | C/T | single | intron | 8 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,COMPLETE_GENOMICS,HGSV,PJP,SSMP,TISHKOFF, | 2 | 0.082126 |
AIFM1 | chrX | 129284727 | 129284728 | rs149201346 | + | C | C/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.980048 |
AIFM1 | chrX | 129285138 | 129285139 | rs191687618 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.016929 |
AIFM1 | chrX | 129285408 | 129285409 | rs209535 | + | C | C/T | single | intron | 14 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KWOK,PJP,SC_JCM,SSMP,TISHKOFF, | 2 | 0.557160 |
AIFM1 | chrX | 129286649 | 129286650 | rs144561581 | + | G | A/G | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.019952 |
AIFM1 | chrX | 129286718 | 129286719 | rs209536 | + | C | A/C | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 1.000000 |
AIFM1 | chrX | 129286854 | 129286855 | rs150754260 | + | C | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.983071 |
AIFM1 | chrX | 129287125 | 129287126 | rs209537 | + | A | A/G | single | intron | 14 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.528597 |
AIFM1 | chrX | 129287322 | 129287323 | rs188222453 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.010883 |
AIFM1 | chrX | 129287515 | 129287516 | rs5932720 | + | C | C/G | single | intron | 7 | 1000GENOMES,AFFY,BCMHGSC_JDW,ENSEMBL,PJP,SC_SNP,SSMP, | 2 | 0.913693 |
AIFM1 | chrX | 129288673 | 129288674 | rs147876553 | + | C | C/G | single | intron | 4 | 1000GENOMES,GMI,SSMP,TISHKOFF, | 2 | 0.976421 |
AIFM1 | chrX | 129289011 | 129289012 | rs148519394 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.989117 |
AIFM1 | chrX | 129289945 | 129289945 | rs77468639 | + | - | -/C/T | insertion | intron | 2 | 1000GENOMES,BGI, | 2 | 0.000000 |
AIFM1 | chrX | 129289946 | 129289946 | rs57695061 | + | - | -/C | insertion | intron | 6 | 1000GENOMES,BILGI_BIOE,BUSHMAN,GMI,HGSV,TISHKOFF, | 2 | 0.000000 |
AIFM1 | chrX | 129290698 | 129290699 | rs189994 | + | T | C/T | single | intron | 20 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SI_EXO,SSMP,TISHKOFF, | 5 | 0.015760 |
AIFM1 | chrX | 129290753 | 129290754 | rs5977215 | + | C | C/T | single | intron | 9 | 1000GENOMES,AFFY,BCMHGSC_JDW,ENSEMBL,KRIBB_YJKIM,PERLEGEN,SC_SNP,SI_EXO,SSMP, | 3 | 0.033060 |
AIFM1 | chrX | 129291183 | 129291184 | rs5977216 | + | G | A/G | single | intron | 17 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF, | 3 | 0.030817 |
AIFM1 | chrX | 129291710 | 129291711 | rs523234 | - | T | A/G | single | intron | 12 | 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,ENSEMBL,GMI,HGSV,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF, | 2 | 0.545783 |
AIFM1 | chrX | 129292983 | 129292984 | rs694727 | + | A | A/T | single | intron | 15 | 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF, | 2 | 0.556518 |
AIFM1 | chrX | 129293096 | 129293097 | rs12390789 | + | C | C/T | single | intron | 4 | 1000GENOMES,ILLUMINA,SC_SNP,TISHKOFF, | 2 | 0.983543 |
AIFM1 | chrX | 129293760 | 129293761 | rs396278 | + | T | C/T | single | intron | 12 | 1000GENOMES,ABI,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA-UK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WI_SSAHASNP, | 3 | 0.011439 |
AIFM1 | chrX | 129293897 | 129293898 | rs496225 | + | C | C/G | single | intron | 12 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA-UK,PJP,SC_JCM,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.545509 |
AIFM1 | chrX | 129294301 | 129294302 | rs5930380 | + | T | C/T | single | intron | 18 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF, | 3 | 0.030766 |
AIFM1 | chrX | 129295376 | 129295377 | rs191310973 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.984885 |
AIFM1 | chrX | 129295498 | 129295499 | rs634483 | - | A | G/T | single | intron | 3 | 1000GENOMES,KWOK,SC_JCM, | 2 | 0.048972 |
AIFM1 | chrX | 129295779 | 129295780 | rs142885842 | + | C | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.974002 |
AIFM1 | chrX | 129296393 | 129296394 | rs23963 | - | T | A/G | single | intron | 22 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 3 | 0.038258 |
AIFM1 | chrX | 129296413 | 129296414 | rs23962 | - | G | C/G | single | intron | 22 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 3 | 0.050814 |
AIFM1 | chrX | 129296593 | 129296594 | rs5975174 | + | T | A/T | single | intron | 5 | 1000GENOMES,AFFY,KRIBB_YJKIM,SC_SNP,TISHKOFF, | 2 | 0.018146 |
AIFM1 | chrX | 129296706 | 129296707 | rs209543 | - | C | A/G | single | intron | 18 | 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.480088 |
AIFM1 | chrX | 129297109 | 129297110 | rs146843672 | + | C | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.987908 |
AIFM1 | chrX | 129297274 | 129297275 | rs209542 | - | C | A/G | single | intron | 13 | 1000GENOMES,ABI,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,KWOK,PJP,SC_JCM,SC_SNP,TISHKOFF, | 2 | 0.466554 |
AIFM1 | chrX | 129297410 | 129297411 | rs58436038 | + | C | A/C | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,HGSV, | 2 | 0.022947 |
AIFM1 | chrX | 129297832 | 129297833 | rs141106030 | + | A | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.986699 |
AIFM1 | chrX | 129297857 | 129297858 | rs209541 | - | G | C/T | single | intron | 12 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,KWOK,PJP,SC_JCM,SSMP,TISHKOFF, | 2 | 0.556024 |
AIFM1 | chrX | 129298138 | 129298139 | rs209540 | - | C | A/G | single | intron | 12 | 1000GENOMES,ABI,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,KWOK,PJP,SC_JCM,SSAHASNP,TISHKOFF,WI_SSAHASNP, | 2 | 0.435542 |
AIFM1 | chrX | 129299131 | 129299132 | rs147411389 | + | G | A/G | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.010278 |
BLVRB | chr19 | 40953713 | 40953714 | rs45460395 | - | A | -/T | deletion | untranslated-3 | 7 | 1000GENOMES,BGI,EGP_SNPS,GMI,LUNTER,SSMP,TISHKOFF, | 2 | 0.108454 |
BLVRB | chr19 | 40954061 | 40954062 | rs12459890 | + | G | G/T | single | intron | 7 | 1000GENOMES,ABI,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,ILLUMINA,KRIBB_YJKIM, | 2 | 0.975563 |
BLVRB | chr19 | 40954153 | 40954154 | rs55892696 | + | A | A/G | single | intron | 8 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.871560 |
BLVRB | chr19 | 40954504 | 40954504 | rs201340561 | + | - | -/AACAACAACAAT | insertion | cds-indel | 1 | 1000GENOMES, | 2 | 0.885216 |
BLVRB | chr19 | 40954513 | 40954514 | rs199890252 | + | A | -/A | deletion | intron | 1 | 1000GENOMES, | 2 | 0.090909 |
BLVRB | chr19 | 40954516 | 40954517 | rs200963317 | + | T | -/T | deletion | intron | 1 | 1000GENOMES, | 2 | 0.086318 |
BLVRB | chr19 | 40954915 | 40954916 | rs10418696 | + | C | C/T | single | intron | 9 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,COMPLETE_GENOMICS,ENSEMBL,GMI,SSMP,TISHKOFF, | 2 | 0.699176 |
BLVRB | chr19 | 40955020 | 40955021 | rs62106979 | + | G | A/G | single | intron | 9 | 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.112128 |
BLVRB | chr19 | 40955142 | 40955143 | rs62106980 | + | A | A/G | single | intron | 9 | 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.880037 |
BLVRB | chr19 | 40955238 | 40955239 | rs7255928 | + | A | A/G | single | intron | 12 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SSMP,TISHKOFF, | 2 | 0.509132 |
BLVRB | chr19 | 40955489 | 40955490 | rs57358059 | + | A | A/G | single | intron | 4 | 1000GENOMES,HGSV,ILLUMINA,TISHKOFF, | 2 | 0.959851 |
BLVRB | chr19 | 40955539 | 40955540 | rs12460634 | + | G | A/G | single | intron | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,ILLUMINA, | 2 | 0.021572 |
BLVRB | chr19 | 40955587 | 40955588 | rs10421779 | + | T | G/T | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSMP,TISHKOFF, | 2 | 0.448543 |
BLVRB | chr19 | 40955604 | 40955605 | rs12460618 | + | C | C/T | single | intron | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,ILLUMINA, | 2 | 0.974747 |
BLVRB | chr19 | 40955881 | 40955882 | rs10425814 | + | A | A/G | single | intron | 11 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,HUMANGENOME_JCVI,SSMP,TISHKOFF, | 2 | 0.521978 |
BLVRB | chr19 | 40956243 | 40956244 | rs62106981 | + | G | C/G | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,GMI,SSMP, | 2 | 0.485348 |
BLVRB | chr19 | 40956274 | 40956275 | rs181428662 | + | T | A/T | single | intron | 1 | 1000GENOMES, | 2 | 0.026630 |
BLVRB | chr19 | 40956281 | 40956282 | rs113105804 | + | G | A/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.110092 |
BLVRB | chr19 | 40956289 | 40956290 | rs185723826 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.028467 |
BLVRB | chr19 | 40956645 | 40956646 | rs73048117 | + | A | A/G | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.870642 |
BLVRB | chr19 | 40956877 | 40956878 | rs2169275 | - | G | A/C | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,PJP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.353266 |
BLVRB | chr19 | 40956962 | 40956963 | rs62106982 | + | C | C/T | single | intron | 10 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.871337 |
BLVRB | chr19 | 40957079 | 40957080 | rs2126121 | - | C | A/G | single | intron | 2 | 1000GENOMES,TSC-CSHL, | 2 | 0.023416 |
BLVRB | chr19 | 40957733 | 40957734 | rs34288924 | + | C | A/C | single | intron | 12 | 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,GMI,ILLUMINA,KRIBB_YJKIM,PJP,SSMP,TISHKOFF, | 2 | 0.117124 |
BLVRB | chr19 | 40958011 | 40958012 | rs41357045 | - | C | A/G | single | intron | 4 | 1000GENOMES,EGP_SNPS,ILLUMINA,TISHKOFF, | 2 | 0.039503 |
BLVRB | chr19 | 40958300 | 40958301 | rs45472391 | - | C | A/G | single | intron | 7 | 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,EGP_SNPS,GMI,SSMP,TISHKOFF, | 2 | 0.130275 |
BLVRB | chr19 | 40958647 | 40958648 | rs444241 | - | T | A/G | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_JCM,SSAHASNP,SSMP,WI_SSAHASNP, | 2 | 0.014587 |
BLVRB | chr19 | 40958801 | 40958802 | rs66889364 | + | C | -/C | deletion | intron | 8 | 1000GENOMES,BILGI_BIOE,BUSHMAN,GMI,HUMANGENOME_JCVI,LUNTER,PJP,SSMP, | 2 | 0.387259 |
BLVRB | chr19 | 40958809 | 40958811 | rs200735218 | + | AC | -/AC | deletion | unknown | 1 | 1000GENOMES, | 2 | 0.330119 |
BLVRB | chr19 | 40958813 | 40958815 | rs201839419 | + | AA | -/AA | deletion | intron | 1 | 1000GENOMES, | 2 | 0.053719 |
BLVRB | chr19 | 40959499 | 40959500 | rs28621979 | + | A | A/G | single | intron | 9 | 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.865719 |
BLVRB | chr19 | 40959806 | 40959807 | rs78543367 | + | G | A/G | single | intron | 5 | 1000GENOMES,BGI,GMI,SSMP,TISHKOFF, | 2 | 0.111987 |
BLVRB | chr19 | 40959851 | 40959852 | rs28427504 | + | G | A/G | single | intron | 5 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSAHASNP,TISHKOFF, | 2 | 0.059578 |
BLVRB | chr19 | 40960012 | 40960013 | rs62106983 | + | T | G/T | single | intron | 7 | 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,SSMP,TISHKOFF, | 2 | 0.105866 |
BLVRB | chr19 | 40960235 | 40960236 | rs268697 | - | A | C/T | single | intron | 11 | 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,KWOK,SC_JCM,SSMP,TISHKOFF, | 2 | 0.158785 |
BLVRB | chr19 | 40960450 | 40960450 | rs113924127 | + | - | -/TTTCTTT | insertion | intron | 3 | 1000GENOMES,BUSHMAN,LUNTER, | 2 | 0.640826 |
BLVRB | chr19 | 40960505 | 40960506 | rs12975787 | + | G | G/T | single | intron | 8 | 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,GMI,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.894037 |
BLVRB | chr19 | 40960732 | 40960733 | rs144587090 | + | T | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.036272 |
BLVRB | chr19 | 40960819 | 40960820 | rs12982125 | + | C | C/G | single | intron | 9 | 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.892399 |
BLVRB | chr19 | 40960878 | 40960879 | rs268696 | - | T | A/C | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA-UK,KWOK,SC_JCM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.507987 |
BLVRB | chr19 | 40960985 | 40960986 | rs268695 | - | G | A/C | single | intron | 16 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA-UK,KWOK,PJP,SC_JCM,SEQUENOM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.285388 |
BLVRB | chr19 | 40961519 | 40961520 | rs113768631 | + | C | C/T | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.982577 |
BLVRB | chr19 | 40961574 | 40961575 | rs62106986 | + | G | A/G | single | intron | 8 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,SSMP,TISHKOFF, | 2 | 0.126031 |
BLVRB | chr19 | 40961798 | 40961799 | rs116300898 | + | G | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.016986 |
BLVRB | chr19 | 40962345 | 40962346 | rs4803339 | + | T | C/T | single | intron | 6 | 1000GENOMES,BGI,GMI,ILLUMINA,SSMP,WI_SSAHASNP, | 2 | 0.097476 |
BLVRB | chr19 | 40962381 | 40962382 | rs268694 | - | T | A/G | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KWOK,PJP,SC_JCM,SSMP,TISHKOFF, | 2 | 0.677464 |
BLVRB | chr19 | 40962405 | 40962405 | rs112529789 | + | - | -/A | insertion | intron | 2 | 1000GENOMES,BUSHMAN, | 2 | 0.978899 |
BLVRB | chr19 | 40962822 | 40962823 | rs147702833 | + | A | A/C | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.975207 |
BLVRB | chr19 | 40962970 | 40962971 | rs75467307 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.024793 |
BLVRB | chr19 | 40963066 | 40963067 | rs74462426 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.026110 |
BLVRB | chr19 | 40963139 | 40963140 | rs268693 | - | G | C/T | single | intron | 21 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SSMP,TISHKOFF, | 2 | 0.496515 |
BLVRB | chr19 | 40963296 | 40963297 | rs268692 | + | G | A/G | single | intron | 14 | 1000GENOMES,BCM_SSAHASNP,BUSHMAN,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,TISHKOFF, | 2 | 0.112052 |
BLVRB | chr19 | 40963666 | 40963667 | rs45495392 | - | C | G/T | single | intron | 4 | 1000GENOMES,BUSHMAN,EGP_SNPS,TISHKOFF, | 2 | 0.961009 |
BLVRB | chr19 | 40963795 | 40963795 | rs61170425 | + | - | -/C | insertion | intron | 9 | 1000GENOMES,BILGI_BIOE,BUSHMAN,DEVINE_LAB,GMI,HGSV,HUMANGENOME_JCVI,LUNTER,SSMP, | 2 | 0.513749 |
BLVRB | chr19 | 40963798 | 40963799 | rs57796734 | + | G | C/G | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,GMI,HGSV, | 2 | 0.488522 |
BLVRB | chr19 | 40963901 | 40963902 | rs45490593 | - | A | G/T | single | intron | 2 | 1000GENOMES,EGP_SNPS, | 2 | 0.028887 |
BLVRB | chr19 | 40964311 | 40964312 | rs1061197 | - | G | C/T | single | coding-synon | 19 | 1000GENOMES,BCMHGSC_JDW,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,LEE,NHLBI-ESP,SC_JCM,SEATTLESEQ,SEQUENOM,SSMP,TISHKOFF,WICVAR,YUSUKE, | 2 | 0.884172 |
BLVRB | chr19 | 40964616 | 40964617 | rs45479603 | - | T | A/G | single | intron | 3 | 1000GENOMES,EGP_SNPS,TISHKOFF, | 2 | 0.977422 |
BLVRB | chr19 | 40965329 | 40965330 | rs73559683 | + | C | C/T | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,ILLUMINA-UK,TISHKOFF, | 2 | 0.957837 |
BLVRB | chr19 | 40965349 | 40965350 | rs28608147 | + | A | A/G | single | intron | 13 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.569098 |
BLVRB | chr19 | 40965365 | 40965366 | rs117718518 | + | A | A/T | single | intron | 1 | 1000GENOMES, | 2 | 0.957789 |
BLVRB | chr19 | 40965477 | 40965478 | rs10439101 | + | A | A/G | single | intron | 12 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA-UK,PJP,SC_SNP,SSMP,TISHKOFF, | 2 | 0.573657 |
BLVRB | chr19 | 40965639 | 40965640 | rs10439102 | + | A | A/G | single | intron | 13 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,PJP,SC_SNP,SSMP,TISHKOFF, | 2 | 0.499315 |
BLVRB | chr19 | 40966175 | 40966176 | rs181424800 | + | T | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.013315 |
BLVRB | chr19 | 40966505 | 40966506 | rs62106988 | + | A | A/C | single | intron | 6 | 1000GENOMES,BCMHGSC_JDW,ENSEMBL,GMI,HUMANGENOME_JCVI,SSMP, | 2 | 0.869386 |
BLVRB | chr19 | 40966574 | 40966575 | rs62106989 | + | G | G/T | single | intron | 9 | 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.842178 |
BLVRB | chr19 | 40966665 | 40966666 | rs12981511 | + | A | A/G | single | intron | 10 | 1000GENOMES,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.819305 |
BLVRB | chr19 | 40966778 | 40966779 | rs112406491 | + | T | C/T | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,GMI,MPI_MOLGEN,SSMP,TISHKOFF, | 2 | 0.099174 |
BLVRB | chr19 | 40966889 | 40966890 | rs752212 | + | A | A/G | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,GMI,TISHKOFF,TSC-CSHL, | 2 | 0.829358 |
BLVRB | chr19 | 40966904 | 40966907 | rs140334586 | + | AAC | -/AAC | deletion | unknown | 4 | 1000GENOMES,GMI,LUNTER,SSMP, | 2 | 0.148760 |
BLVRB | chr19 | 40967098 | 40967099 | rs147271838 | + | T | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.025253 |
BLVRB | chr19 | 40967266 | 40967267 | rs28529139 | + | C | C/T | single | intron | 8 | 1000GENOMES,COMPLETE_GENOMICS,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,SSAHASNP,TISHKOFF, | 2 | 0.937884 |
BLVRB | chr19 | 40967282 | 40967283 | rs73559686 | + | C | C/T | single | intron | 7 | 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.855963 |
BLVRB | chr19 | 40967429 | 40967430 | rs62106990 | + | G | A/G | single | intron | 7 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,TISHKOFF, | 2 | 0.172777 |
BLVRB | chr19 | 40967837 | 40967838 | rs118110133 | + | C | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.989121 |
BLVRB | chr19 | 40968185 | 40968185 | rs113847960 | + | - | -/C | insertion | intron | 2 | 1000GENOMES,BUSHMAN, | 2 | 0.800000 |
BLVRB | chr19 | 40968269 | 40968270 | rs60438882 | + | C | C/T | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.870642 |
BLVRB | chr19 | 40968349 | 40968350 | rs62106991 | + | G | A/G | single | intron | 7 | 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,SSMP,TISHKOFF, | 2 | 0.082493 |
BLVRB | chr19 | 40968385 | 40968386 | rs141002134 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.015611 |
BLVRB | chr19 | 40968500 | 40968501 | rs62106992 | + | G | A/G | single | intron | 8 | 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA-UK,SSMP, | 2 | 0.487437 |
BLVRB | chr19 | 40968629 | 40968630 | rs62106993 | + | T | C/T | single | intron | 6 | 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,SSMP, | 2 | 0.484904 |
BLVRB | chr19 | 40968841 | 40968842 | rs4802078 | + | A | A/G | single | intron | 9 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,GMI,ILLUMINA,KRIBB_YJKIM,SSMP,WI_SSAHASNP, | 2 | 0.675099 |
BLVRB | chr19 | 40969109 | 40969110 | rs34210692 | + | C | -/C | deletion | intron | 9 | 1000GENOMES,ABI,BILGI_BIOE,DEVINE_LAB,GMI,HUMANGENOME_JCVI,LUNTER,SSMP,TISHKOFF, | 2 | 0.137156 |
BLVRB | chr19 | 40969202 | 40969203 | rs2613843 | - | C | A/G | single | intron | 20 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,SC_JCM,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.530005 |
BLVRB | chr19 | 40969265 | 40969266 | rs143430769 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.975207 |
BLVRB | chr19 | 40969312 | 40969313 | rs111862117 | + | C | C/T | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.970669 |
BLVRB | chr19 | 40969799 | 40969800 | rs376112 | - | A | C/T | single | intron | 16 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSMP, | 2 | 0.526603 |
BLVRB | chr19 | 40970008 | 40970009 | rs426970 | - | G | A/C | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.517304 |
BLVRB | chr19 | 40970163 | 40970163 | rs149934847 | + | - | -/T | insertion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.937557 |
BLVRB | chr19 | 40970201 | 40970202 | rs60805519 | + | C | C/T | single | intron | 11 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,PJP,SSMP,TISHKOFF, | 2 | 0.679470 |
BLVRB | chr19 | 40971720 | 40971721 | rs45441502 | - | A | C/T | single | untranslated-5 | 3 | 1000GENOMES,EGP_SNPS,TISHKOFF, | 2 | 0.015745 |
COQ6 | chr14 | 74416664 | 74416665 | rs17094157 | + | T | C/T | single | intron,near-gene-5,untranslated-5 | 9 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,GMI,ILLUMINA,KYUGEN,NHLBI-ESP,PERLEGEN,SSMP, | 3 | 0.084197 |
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 | 74416936 | 74416937 | rs17094164 | + | G | C/G | single | intron,near-gene-5,untranslated-5 | 3 | 1000GENOMES,PERLEGEN,TISHKOFF, | 2 | 0.013603 |
COQ6 | chr14 | 74416944 | 74416945 | rs17552038 | + | G | C/G | single | intron,near-gene-5,untranslated-5 | 12 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,KYUGEN,PJP,SI_EXO,SSMP, | 2 | 0.107045 |
COQ6 | chr14 | 74416995 | 74416996 | rs78801603 | + | G | G/T | single | intron,untranslated-5 | 3 | 1000GENOMES,ILLUMINA,NHLBI-ESP, | 2 | 0.972561 |
COQ6 | chr14 | 74417208 | 74417209 | rs60369619 | + | C | C/T | single | intron,near-gene-5 | 6 | 1000GENOMES,BUSHMAN,HGSV,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.984876 |
COQ6 | chr14 | 74417487 | 74417488 | rs76260393 | + | T | C/T | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.016986 |
COQ6 | chr14 | 74417554 | 74417555 | rs112218167 | + | T | G/T | single | intron,near-gene-5 | 3 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA, | 2 | 0.051376 |
COQ6 | chr14 | 74417597 | 74417598 | rs11850082 | + | C | A/C | single | intron,near-gene-5 | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, | 2 | 0.014207 |
COQ6 | chr14 | 74417608 | 74417609 | rs59892091 | + | T | C/T | single | intron,near-gene-5 | 4 | 1000GENOMES,GMI,HGSV,SSMP, | 2 | 0.090157 |
COQ6 | chr14 | 74417649 | 74417650 | rs11850094 | + | C | C/T | single | intron,near-gene-5 | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, | 2 | 0.979167 |
COQ6 | chr14 | 74417711 | 74417712 | rs11850097 | + | A | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, | 2 | 0.988543 |
COQ6 | chr14 | 74417797 | 74417798 | rs8013496 | + | G | C/G | single | intron,near-gene-5 | 13 | 1000GENOMES,ABI,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.363969 |
COQ6 | chr14 | 74417912 | 74417913 | rs112260439 | + | G | G/T | single | intron,near-gene-5 | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.985780 |
COQ6 | chr14 | 74418065 | 74418066 | rs114383382 | + | G | C/G | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.013937 |
COQ6 | chr14 | 74418140 | 74418141 | rs11628276 | + | G | A/G | single | intron,near-gene-5 | 10 | 1000GENOMES,ABI,BCMHGSC_JDW,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,PJP,SSMP,TISHKOFF, | 2 | 0.248856 |
COQ6 | chr14 | 74418587 | 74418588 | rs66712197 | + | G | A/G | single | intron,near-gene-5 | 8 | 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP, | 2 | 0.105769 |
COQ6 | chr14 | 74418749 | 74418750 | rs72723772 | + | T | C/T | single | intron,near-gene-5 | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.021120 |
COQ6 | chr14 | 74418969 | 74418970 | rs77680522 | + | C | C/T | single | intron,near-gene-5 | 5 | 1000GENOMES,BGI,GMI,SSMP,TISHKOFF, | 2 | 0.859045 |
COQ6 | chr14 | 74419190 | 74419191 | rs10459544 | + | C | C/G | single | intron | 15 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.164765 |
COQ6 | chr14 | 74419208 | 74419209 | rs10459545 | + | A | A/G | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.339100 |
COQ6 | chr14 | 74419245 | 74419246 | rs191928320 | + | A | A/T | single | intron | 1 | 1000GENOMES, | 2 | 0.989440 |
COQ6 | chr14 | 74419246 | 74419247 | rs10459546 | + | A | A/T | single | intron | 10 | 1000GENOMES,ABI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SC_SNP,SSMP, | 2 | 0.881410 |
COQ6 | chr14 | 74419354 | 74419355 | rs111553135 | + | C | C/T | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.968349 |
COQ6 | chr14 | 74419526 | 74419527 | rs141219050 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.986226 |
COQ6 | chr14 | 74419641 | 74419642 | rs10459547 | + | G | G/T | single | intron | 11 | 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP, | 2 | 0.892955 |
COQ6 | chr14 | 74419824 | 74419825 | rs4903159 | + | G | A/G | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.659893 |
COQ6 | chr14 | 74420029 | 74420030 | rs112742205 | + | T | C/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA, | 2 | 0.018807 |
COQ6 | chr14 | 74420108 | 74420109 | rs60157646 | + | T | G/T | single | intron | 8 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,HGSV,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,TISHKOFF, | 2 | 0.022334 |
COQ6 | chr14 | 74420126 | 74420127 | rs3213692 | - | C | A/G | single | intron | 13 | 1000GENOMES,BCM-HGSC-SUB,BGI,CLINSEQ_SNP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,NHLBI-ESP,PJP,SSAHASNP,SSMP,YUSUKE, | 2 | 0.238280 |
COQ6 | chr14 | 74420126 | 74420127 | rs200558787 | + | C | -/C | deletion | intron | 1 | 1000GENOMES, | 2 | 0.216253 |
COQ6 | chr14 | 74420251 | 74420252 | rs61743864 | + | G | A/G | single | missense | 5 | 1000GENOMES,CORNELL,EXOME_CHIP,ILLUMINA,NHLBI-ESP, | 2 | 0.017490 |
COQ6 | chr14 | 74420439 | 74420440 | rs17094182 | + | C | A/C | single | intron | 9 | 1000GENOMES,AFFY,BGI,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.161667 |
COQ6 | chr14 | 74420524 | 74420527 | rs143983947 | + | TGT | -/TGT | deletion | intron | 4 | 1000GENOMES,BL,GMI,LUNTER, | 2 | 0.050046 |
COQ6 | chr14 | 74420620 | 74420620 | rs146800451 | + | - | -/AG | insertion | intron | 3 | 1000GENOMES,GMI,LUNTER, | 2 | 0.915519 |
COQ6 | chr14 | 74420921 | 74420922 | rs11629101 | + | T | C/T | single | intron | 8 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,SSMP,TISHKOFF, | 2 | 0.342159 |
COQ6 | chr14 | 74421149 | 74421152 | rs200188951 | + | AAC | -/AAC | deletion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.013774 |
COQ6 | chr14 | 74421211 | 74421212 | rs2079632 | - | C | C/G | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SC_JCM,SSAHASNP,SSMP,TSC-CSHL,WI_SSAHASNP, | 2 | 0.873028 |
COQ6 | chr14 | 74421320 | 74421321 | rs2098030 | - | C | A/G | single | intron | 10 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,ENSEMBL,SC_JCM,SSAHASNP,SSMP,TSC-CSHL, | 2 | 0.103022 |
COQ6 | chr14 | 74421375 | 74421376 | rs140936556 | + | C | A/C | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.013774 |
COQ6 | chr14 | 74421411 | 74421412 | rs117895742 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.977372 |
COQ6 | chr14 | 74421532 | 74421533 | rs150260008 | + | C | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.769054 |
COQ6 | chr14 | 74421541 | 74421542 | rs139022996 | + | G | A/G | single | intron | 2 | 1000GENOMES,GMI, | 2 | 0.328283 |
COQ6 | chr14 | 74421565 | 74421566 | rs191731397 | + | T | A/T | single | intron | 2 | 1000GENOMES,GMI, | 2 | 0.248852 |
COQ6 | chr14 | 74421565 | 74421566 | rs201876533 | + | T | -/T | deletion | intron | 1 | 1000GENOMES, | 2 | 0.241506 |
COQ6 | chr14 | 74421625 | 74421626 | rs115919509 | + | A | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.970819 |
COQ6 | chr14 | 74421646 | 74421647 | rs113358234 | + | T | A/T | single | intron | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI, | 2 | 0.351971 |
COQ6 | chr14 | 74421661 | 74421662 | rs188075790 | + | T | A/T | single | intron | 1 | 1000GENOMES, | 2 | 0.046373 |
COQ6 | chr14 | 74421680 | 74421681 | rs189541577 | + | G | G/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.970156 |
COQ6 | chr14 | 74422328 | 74422329 | rs2302118 | - | G | C/G | single | intron | 14 | 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.812666 |
COQ6 | chr14 | 74422385 | 74422386 | rs75531541 | + | C | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.980418 |
COQ6 | chr14 | 74422801 | 74422802 | rs188395141 | + | C | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.977043 |
COQ6 | chr14 | 74422802 | 74422803 | rs112488013 | + | G | A/G | single | intron | 4 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.025618 |
COQ6 | chr14 | 74422842 | 74422843 | rs1972538 | - | T | A/G | single | intron | 10 | 1000GENOMES,ABI,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.778185 |
COQ6 | chr14 | 74422853 | 74422854 | rs113608012 | + | T | C/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,SSMP, | 2 | 0.011009 |
COQ6 | chr14 | 74422903 | 74422904 | rs112175736 | + | G | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.018781 |
COQ6 | chr14 | 74422922 | 74422923 | rs1985969 | - | T | A/G | single | intron | 16 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.526484 |
COQ6 | chr14 | 74423217 | 74423218 | rs10148057 | + | C | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA,WI_SSAHASNP, | 2 | 0.983821 |
COQ6 | chr14 | 74423356 | 74423363 | rs143222231 | + | TCCACTT | -/TCCACTT | deletion | intron | 4 | 1000GENOMES,GMI,LUNTER,PJP, | 2 | 0.327365 |
COQ6 | chr14 | 74423517 | 74423518 | rs75446133 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.986498 |
COQ6 | chr14 | 74423658 | 74423659 | rs11623965 | + | T | C/T | single | intron | 7 | 1000GENOMES,ABI,BCMHGSC_JDW,CSHL-HAPMAP,ENSEMBL,GMI,SSMP, | 2 | 0.235133 |
COQ6 | chr14 | 74423781 | 74423782 | rs11850995 | + | C | C/T | single | intron | 7 | 1000GENOMES,ABI,AFFY,CSHL-HAPMAP,ENSEMBL,ILLUMINA,KRIBB_YJKIM, | 2 | 0.977887 |
COQ6 | chr14 | 74423800 | 74423801 | rs181739324 | + | A | A/T | single | intron | 2 | 1000GENOMES,GMI, | 2 | 0.943526 |
COQ6 | chr14 | 74423803 | 74423804 | rs4903160 | + | A | A/T | single | intron | 5 | 1000GENOMES,CSHL-HAPMAP,ENSEMBL,GMI,WI_SSAHASNP, | 2 | 0.719523 |
COQ6 | chr14 | 74423803 | 74423804 | rs200787774 | + | A | -/A | deletion | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.280533 |
COQ6 | chr14 | 74423805 | 74423805 | rs201739413 | + | - | -/TA | insertion | intron | 1 | 1000GENOMES, | 2 | 0.797521 |
COQ6 | chr14 | 74423806 | 74423806 | rs199572425 | + | - | -/A | insertion | intron | 2 | 1000GENOMES,GMI, | 2 | 0.797980 |
COQ6 | chr14 | 74423836 | 74423837 | rs60611458 | + | G | A/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,HGSV,TISHKOFF, | 2 | 0.022477 |
COQ6 | chr14 | 74423955 | 74423956 | rs62006130 | + | G | A/G | single | intron | 7 | 1000GENOMES,BCMHGSC_JDW,BUSHMAN,ENSEMBL,GMI,SSMP,TISHKOFF, | 2 | 0.318515 |
COQ6 | chr14 | 74424201 | 74424202 | rs77803340 | + | G | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.029617 |
COQ6 | chr14 | 74424258 | 74424259 | rs114800916 | + | G | G/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.984756 |
COQ6 | chr14 | 74424264 | 74424265 | rs62006131 | + | T | A/C/T | single | intron | 8 | 1000GENOMES,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,SSMP,TISHKOFF, | 2 | 0.345995 |
COQ6 | chr14 | 74424490 | 74424491 | rs17782310 | + | T | C/T | single | intron | 7 | 1000GENOMES,BCMHGSC_JDW,ENSEMBL,GMI,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.222653 |
COQ6 | chr14 | 74424543 | 74424544 | rs79537722 | + | G | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.014373 |
COQ6 | chr14 | 74424740 | 74424741 | rs10151933 | + | G | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA,WI_SSAHASNP, | 2 | 0.012722 |
COQ6 | chr14 | 74424937 | 74424938 | rs3180946 | - | T | A/G | single | coding-synon | 22 | 1000GENOMES,ABI,APPLERA_GI,BCMHGSC_JDW,BCM_SSAHASNP,CGAP-GAI,CLINSEQ_SNP,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,LEE,NHLBI-ESP,PERLEGEN,PJP,SEATTLESEQ,SI_EXO,SSMP,TISHKOFF,YUSUKE, | 2 | 0.736661 |
COQ6 | chr14 | 74425055 | 74425056 | rs3764859 | - | C | G/T | single | intron | 19 | 1000GENOMES,ABI,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SI_EXO,SSMP,TISHKOFF,YUSUKE, | 2 | 0.679628 |
COQ6 | chr14 | 74426313 | 74426314 | rs57268226 | + | A | A/G | single | intron | 3 | 1000GENOMES,HGSV,TISHKOFF, | 2 | 0.985192 |
COQ6 | chr14 | 74426374 | 74426375 | rs145747095 | + | C | C/T | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.914141 |
COQ6 | chr14 | 74426671 | 74426672 | rs2072291 | - | C | A/G | single | intron | 22 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGBASE,HGSV,HUMANGENOME_JCVI,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.614831 |
COQ6 | chr14 | 74426853 | 74426854 | rs740505 | + | T | C/T | single | intron | 15 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.139264 |
COQ6 | chr14 | 74426929 | 74426930 | rs740504 | + | A | A/G | single | intron | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.856322 |
COQ6 | chr14 | 74426941 | 74426942 | rs10873263 | + | A | A/C | single | intron | 11 | 1000GENOMES,ABI,AFFY,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,KRIBB_YJKIM,PJP,SSMP,TISHKOFF, | 2 | 0.808896 |
COQ6 | chr14 | 74426970 | 74426971 | rs34468446 | + | A | A/G | single | intron | 9 | 1000GENOMES,ABI,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.879689 |
COQ6 | chr14 | 74427404 | 74427405 | rs2098029 | - | C | A/G | single | intron | 11 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TSC-CSHL, | 2 | 0.090577 |
COQ6 | chr14 | 74427405 | 74427406 | rs115579294 | + | G | A/G | single | intron | 4 | 1000GENOMES,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.010889 |
COQ6 | chr14 | 74427624 | 74427625 | rs75088275 | + | G | C/G | single | intron | 1 | 1000GENOMES, | 2 | 0.015244 |
COQ6 | chr14 | 74427673 | 74427674 | rs79246780 | + | C | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.974325 |
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 | 74428285 | 74428286 | rs7141392 | + | A | A/G | single | intron | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.145259 |
COQ6 | chr14 | 74428337 | 74428338 | rs116737018 | + | C | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.984756 |
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 |
COQ6 | chr14 | 74428850 | 74428851 | rs12880050 | + | A | A/G | single | intron | 11 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP, | 2 | 0.899360 |
COQ6 | chr14 | 74429090 | 74429091 | rs72627141 | + | T | C/T | single | intron | 6 | 1000GENOMES,BGI,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.153391 |
COQ6 | chr14 | 74429124 | 74429125 | rs113145643 | + | G | A/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.022018 |
COQ6 | chr14 | 74429132 | 74429133 | rs7147088 | + | A | A/G | single | intron | 11 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.653705 |
COQ6 | chr14 | 74429136 | 74429137 | rs7147229 | + | C | C/G | single | intron | 10 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.765811 |
COQ6 | chr14 | 74429409 | 74429411 | rs57794133 | + | TA | -/TA | deletion | intron | 13 | 1000GENOMES,BCMHGSC_JDW,BILGI_BIOE,BL,BUSHMAN,DEVINE_LAB,GMI,HGSV,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.614011 |
COQ6 | chr14 | 74429412 | 74429413 | rs200726437 | + | A | -/A | deletion | intron | 1 | 1000GENOMES, | 2 | 0.271809 |
COQ6 | chr14 | 74429729 | 74429730 | rs73301427 | + | T | C/T | single | untranslated-3 | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.027905 |
COQ6 | chr14 | 74429847 | 74429848 | rs72627142 | + | G | C/G | single | near-gene-3 | 5 | 1000GENOMES,BGI,GMI,SSMP,TISHKOFF, | 2 | 0.155215 |
COQ6 | chr14 | 74429982 | 74429983 | rs116563548 | + | C | C/T | single | near-gene-3 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.984756 |
CYB5R3 | chr22 | 43013882 | 43013883 | rs78361912 | + | C | C/T | single | untranslated-3 | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.971690 |
CYB5R3 | chr22 | 43013930 | 43013931 | rs138598491 | + | C | C/T | single | untranslated-3 | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.988981 |
CYB5R3 | chr22 | 43014120 | 43014121 | rs8190477 | - | G | C/T | single | untranslated-3 | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,HGSV,ILLUMINA, | 2 | 0.982744 |
CYB5R3 | chr22 | 43014146 | 43014147 | rs5758810 | + | G | A/G | single | untranslated-3 | 3 | 1000GENOMES,SC_SNP,SSMP, | 2 | 0.028721 |
CYB5R3 | chr22 | 43014338 | 43014339 | rs8190476 | - | C | A/G | single | untranslated-3 | 1 | EGP_SNPS, | 2 | 0.018987 |
CYB5R3 | chr22 | 43014350 | 43014351 | rs8190475 | - | G | C/T | single | untranslated-3 | 7 | ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,HGSV,PJP,SSMP, | 2 | 0.783951 |
CYB5R3 | chr22 | 43014397 | 43014398 | rs8190474 | - | C | A/G | single | untranslated-3 | 3 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS, | 2 | 0.020103 |
CYB5R3 | chr22 | 43014466 | 43014467 | rs6002817 | + | C | C/T | single | untranslated-3 | 12 | 1000GENOMES,ABI,COMPLETE_GENOMICS,EGP_SNPS,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.862084 |
CYB5R3 | chr22 | 43014702 | 43014703 | rs138986663 | + | G | A/G | single | untranslated-3 | 1 | 1000GENOMES, | 2 | 0.015151 |
CYB5R3 | chr22 | 43014772 | 43014773 | rs6002819 | + | A | A/G | single | untranslated-3 | 7 | 1000GENOMES,BCM_SSAHASNP,BUSHMAN,ILLUMINA,ILLUMINA-UK,SC_SNP,TISHKOFF, | 2 | 0.963320 |
CYB5R3 | chr22 | 43014849 | 43014850 | rs6002820 | + | T | C/T | single | untranslated-3 | 4 | 1000GENOMES,ILLUMINA,SC_SNP,TISHKOFF, | 2 | 0.016986 |
CYB5R3 | chr22 | 43015386 | 43015387 | rs7284807 | + | C | C/G | single | untranslated-3 | 7 | 1000GENOMES,BCM_SSAHASNP,HGSV,ILLUMINA,ILLUMINA-UK,PJP,TISHKOFF, | 2 | 0.965138 |
CYB5R3 | chr22 | 43015478 | 43015480 | rs78283959 | - | TA | -/TA | deletion | untranslated-3 | 4 | 1000GENOMES,LUNTER,TISHKOFF,TREPLAB, | 2 | 0.025229 |
CYB5R3 | chr22 | 43015491 | 43015492 | rs137123 | + | G | G/T | single | untranslated-3 | 23 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,CGAP-GAI,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,PJP,SC,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.573254 |
CYB5R3 | chr22 | 43015715 | 43015716 | rs137124 | + | T | C/T | single | untranslated-3 | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC,SC_SNP,SSMP,TISHKOFF,WICVAR,YUSUKE, | 2 | 0.481952 |
CYB5R3 | chr22 | 43016014 | 43016015 | rs12106607 | + | C | C/T | single | intron | 5 | 1000GENOMES,BUSHMAN,ILLUMINA,SC_SNP,TISHKOFF, | 2 | 0.964204 |
CYB5R3 | chr22 | 43016466 | 43016467 | rs8190470 | - | T | A/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,HGSV, | 2 | 0.987701 |
CYB5R3 | chr22 | 43017626 | 43017627 | rs751153 | + | T | C/T | single | intron | 7 | 1000GENOMES,ABI,BUSHMAN,EGP_SNPS,SC_SNP,TISHKOFF,TSC-CSHL, | 2 | 0.041377 |
CYB5R3 | chr22 | 43017718 | 43017719 | rs8190468 | - | C | A/G | single | intron | 4 | 1000GENOMES,BUSHMAN,EGP_SNPS,TISHKOFF, | 2 | 0.036849 |
CYB5R3 | chr22 | 43018053 | 43018054 | rs8190467 | - | G | C/G | single | intron | 3 | 1000GENOMES,EGP_SNPS,TISHKOFF, | 2 | 0.986672 |
CYB5R3 | chr22 | 43018078 | 43018079 | rs2413705 | + | A | A/C | single | intron | 4 | ABI,EGP_SNPS,TISHKOFF,TSC-CSHL, | 2 | 0.986301 |
CYB5R3 | chr22 | 43018081 | 43018081 | rs5845548 | + | - | -/C | insertion | intron | 10 | 1000GENOMES,ABI,BILGI_BIOE,DEVINE_LAB,EGP_SNPS,GMI,HUMANGENOME_JCVI,LUNTER,PJP,TISHKOFF, | 2 | 0.129567 |
CYB5R3 | chr22 | 43018084 | 43018085 | rs2267449 | + | G | A/G | single | intron | 4 | EGP_SNPS,GMI,TISHKOFF,YUSUKE, | 2 | 0.164773 |
CYB5R3 | chr22 | 43018121 | 43018122 | rs2003823 | - | T | A/C | single | intron | 5 | 1000GENOMES,ABI,EGP_SNPS,TISHKOFF,TSC-CSHL, | 2 | 0.963435 |
CYB5R3 | chr22 | 43018184 | 43018185 | rs2018557 | - | C | G/T | single | intron | 16 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 2 | 0.679694 |
CYB5R3 | chr22 | 43018215 | 43018216 | rs114534262 | + | G | G/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.985192 |
CYB5R3 | chr22 | 43018586 | 43018587 | rs743887 | + | C | C/G | single | intron | 12 | 1000GENOMES,ABI,BL,EGP_SNPS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TSC-CSHL,YUSUKE, | 2 | 0.787008 |
CYB5R3 | chr22 | 43018622 | 43018623 | rs743888 | + | T | C/T | single | intron | 16 | 1000GENOMES,ABI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 2 | 0.313594 |
CYB5R3 | chr22 | 43019002 | 43019003 | rs74852648 | + | T | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.015244 |
CYB5R3 | chr22 | 43019056 | 43019071 | rs8190463 | - | ACCGCAGTTGCCGCC | -/GGCGGCAACTGCG | deletion | intron | 6 | 1000GENOMES,BUSHMAN,DEVINE_LAB,EGP_SNPS,LUNTER,PJP, | 2 | 0.182432 |
CYB5R3 | chr22 | 43019251 | 43019252 | rs137126 | + | A | A/G | single | intron | 23 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC,SC_SNP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.506921 |
CYB5R3 | chr22 | 43019535 | 43019536 | rs2071843 | + | A | A/G | single | intron | 9 | 1000GENOMES,BGI,CSHL-HAPMAP,EGP_SNPS,GMI,ILLUMINA,SSMP,TISHKOFF,YUSUKE, | 2 | 0.791488 |
CYB5R3 | chr22 | 43019561 | 43019562 | rs2071844 | + | T | C/T | single | intron | 22 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,PJP,SC_SNP,SI_EXO,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.431877 |
CYB5R3 | chr22 | 43019631 | 43019632 | rs137127 | + | C | A/C | single | intron | 16 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SC,SC_JCM,SSMP,TISHKOFF, | 2 | 0.135760 |
CYB5R3 | chr22 | 43020049 | 43020050 | rs8190460 | - | C | C/G | single | intron | 2 | 1000GENOMES,EGP_SNPS, | 2 | 0.016556 |
CYB5R3 | chr22 | 43020125 | 43020126 | rs6002824 | + | T | C/T | single | intron | 5 | 1000GENOMES,BUSHMAN,EGP_SNPS,SC_SNP,TISHKOFF, | 2 | 0.036063 |
CYB5R3 | chr22 | 43020166 | 43020167 | rs8190458 | - | C | A/G | single | intron | 2 | 1000GENOMES,EGP_SNPS, | 2 | 0.021222 |
CYB5R3 | chr22 | 43020168 | 43020169 | rs137128 | + | C | C/T | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,PJP,SC,SC_JCM,SC_SNP,SSMP,TISHKOFF, | 2 | 0.594899 |
CYB5R3 | chr22 | 43020233 | 43020234 | rs8190457 | - | C | A/G | single | intron | 4 | 1000GENOMES,EGP_SNPS,ILLUMINA,SSMP, | 2 | 0.013380 |
CYB5R3 | chr22 | 43020321 | 43020322 | rs137129 | + | A | A/G | single | intron | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC,SC_SNP,SSAHASNP,SSMP, | 2 | 0.513938 |
CYB5R3 | chr22 | 43020470 | 43020471 | rs115339547 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.012195 |
CYB5R3 | chr22 | 43020902 | 43020903 | rs5996196 | + | G | A/G | single | intron | 5 | 1000GENOMES,BUSHMAN,PERLEGEN,SC_SNP,TISHKOFF, | 2 | 0.039037 |
CYB5R3 | chr22 | 43021140 | 43021141 | rs137130 | + | T | C/T | single | intron | 25 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.458555 |
CYB5R3 | chr22 | 43021445 | 43021446 | rs137131 | + | G | A/G | single | intron | 15 | 1000GENOMES,ABI,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC,SC_JCM,SSMP,TISHKOFF,YUSUKE, | 2 | 0.392498 |
CYB5R3 | chr22 | 43021553 | 43021554 | rs137132 | + | A | A/G | single | intron | 19 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC,SC_JCM,SSMP,TISHKOFF,YUSUKE, | 2 | 0.565499 |
CYB5R3 | chr22 | 43021606 | 43021607 | rs137133 | + | C | C/T | single | intron | 12 | 1000GENOMES,ABI,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,HGSV,PERLEGEN,SC,SC_JCM,SEQUENOM,SSMP,TISHKOFF, | 2 | 0.893323 |
CYB5R3 | chr22 | 43021712 | 43021713 | rs137134 | + | T | A/T | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.437024 |
CYB5R3 | chr22 | 43022094 | 43022095 | rs148186280 | + | A | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.988062 |
CYB5R3 | chr22 | 43022302 | 43022303 | rs8190454 | - | C | A/G | single | intron | 5 | 1000GENOMES,BUSHMAN,EGP_SNPS,SSMP,TISHKOFF, | 2 | 0.018739 |
CYB5R3 | chr22 | 43022692 | 43022693 | rs6002826 | + | C | A/C | single | intron | 8 | 1000GENOMES,AFFY,BCM_SSAHASNP,BUSHMAN,ILLUMINA,KRIBB_YJKIM,SC_SNP,TISHKOFF, | 2 | 0.032891 |
CYB5R3 | chr22 | 43022832 | 43022836 | rs8190452 | - | GGGC | -/GCCC | deletion | intron | 14 | 1000GENOMES,ABI,BCMHGSC_JDW,DEVINE_LAB,EGP_SNPS,GMI,HGSV,HUMANGENOME_JCVI,LUNTER,PJP,SC,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.367547 |
CYB5R3 | chr22 | 43023488 | 43023489 | rs118041142 | + | C | C/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.976936 |
CYB5R3 | chr22 | 43023526 | 43023527 | rs137136 | + | G | A/G | single | intron | 8 | 1000GENOMES,EGP_SNPS,GMI,KRIBB_YJKIM,SC,SSMP,TISHKOFF,YUSUKE, | 2 | 0.262678 |
CYB5R3 | chr22 | 43023534 | 43023535 | rs137137 | + | A | A/G | single | intron | 10 | 1000GENOMES,EGP_SNPS,GMI,ILLUMINA,KRIBB_YJKIM,SC,SI_EXO,SSMP,TISHKOFF,YUSUKE, | 2 | 0.759926 |
CYB5R3 | chr22 | 43023647 | 43023648 | rs61743717 | + | C | A/C | single | missense | 1 | CORNELL, | 2 | 0.013513 |
CYB5R3 | chr22 | 43023765 | 43023766 | rs2071845 | + | G | A/G | single | intron | 2 | HGBASE,YUSUKE, | 2 | 0.011500 |
CYB5R3 | chr22 | 43023938 | 43023939 | rs2071846 | + | G | G/T | single | intron | 10 | 1000GENOMES,BCM-HGSC-SUB,EGP_SNPS,GMI,HGBASE,ILLUMINA,PERLEGEN,SSMP,TISHKOFF,YUSUKE, | 2 | 0.794081 |
CYB5R3 | chr22 | 43023979 | 43023980 | rs137138 | + | G | A/G | single | intron | 25 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.353177 |
CYB5R3 | chr22 | 43024030 | 43024031 | rs112015559 | + | G | A/G | single | intron | 2 | 1000GENOMES,BUSHMAN, | 2 | 0.063761 |
CYB5R3 | chr22 | 43024270 | 43024271 | rs1800457 | - | G | C/G | single | missense | 15 | 1000GENOMES,ABI,CLINSEQ_SNP,CORNELL,CSHL-HAPMAP,EGP_SNPS,EXOME_CHIP,HGBASE,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,OMIM-CURATED-RECORDS,PERLEGEN,SEATTLESEQ,TISHKOFF, | 2 | 0.907836 |
CYB5R3 | chr22 | 43024409 | 43024410 | rs137139 | + | C | C/T | single | intron | 28 | 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,KRIBB_YJKIM,PERLEGEN,PJP,SC,SC_JCM,SC_SNP,SI_EXO,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.269983 |
CYB5R3 | chr22 | 43024498 | 43024499 | rs8190443 | - | C | C/G | single | intron | 5 | 1000GENOMES,BUSHMAN,EGP_SNPS,SSMP,TISHKOFF, | 2 | 0.023949 |
CYB5R3 | chr22 | 43024528 | 43024529 | rs117865837 | + | G | A/G | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.010444 |
CYB5R3 | chr22 | 43024870 | 43024871 | rs11704825 | + | T | C/T | single | intron | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,ILLUMINA, | 2 | 0.010560 |
CYB5R3 | chr22 | 43025193 | 43025194 | rs8190440 | - | C | C/G | single | intron | 5 | 1000GENOMES,CSHL-HAPMAP,EGP_SNPS,ILLUMINA-UK,TISHKOFF, | 2 | 0.036462 |
CYB5R3 | chr22 | 43025242 | 43025243 | rs77088928 | + | G | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.015244 |
CYB5R3 | chr22 | 43025469 | 43025470 | rs2267452 | + | G | A/G | single | intron | 17 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.308545 |
CYB5R3 | chr22 | 43025941 | 43025942 | rs2267453 | + | T | G/T | single | intron | 11 | 1000GENOMES,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,GMI,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.308312 |
CYB5R3 | chr22 | 43025949 | 43025950 | rs2267454 | + | C | C/T | single | intron | 10 | 1000GENOMES,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,GMI,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.701442 |
CYB5R3 | chr22 | 43026211 | 43026212 | rs9623647 | + | G | A/G | single | intron | 3 | 1000GENOMES,SC_SNP,TISHKOFF, | 2 | 0.015244 |
CYB5R3 | chr22 | 43026295 | 43026296 | rs737733 | + | A | A/C | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,PJP,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.395735 |
CYB5R3 | chr22 | 43026615 | 43026616 | rs2285138 | + | C | C/T | single | intron | 16 | 1000GENOMES,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,SC_SNP,SSMP,TISHKOFF,YUSUKE, | 3 | 0.443104 |
CYB5R3 | chr22 | 43026686 | 43026687 | rs8190436 | - | C | A/G | single | intron | 4 | 1000GENOMES,EGP_SNPS,ILLUMINA,TISHKOFF, | 2 | 0.014593 |
CYB5R3 | chr22 | 43026689 | 43026690 | rs2285139 | + | G | A/G | single | intron | 12 | 1000GENOMES,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,GMI,SC_SNP,SI_EXO,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 2 | 0.307922 |
CYB5R3 | chr22 | 43026694 | 43026695 | rs7287662 | + | G | A/G | single | intron | 5 | 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,EGP_SNPS,HGSV, | 2 | 0.015745 |
CYB5R3 | chr22 | 43026791 | 43026792 | rs5758820 | + | A | A/G | single | intron | 20 | 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_SNP,SI_EXO,SSMP,TISHKOFF, | 2 | 0.349057 |
CYB5R3 | chr22 | 43027083 | 43027084 | rs8190433 | - | G | C/T | single | intron | 3 | 1000GENOMES,EGP_SNPS,TISHKOFF, | 2 | 0.985692 |
CYB5R3 | chr22 | 43027133 | 43027134 | rs8190431 | - | T | A/C | single | intron | 2 | BUSHMAN,EGP_SNPS, | 2 | 0.982759 |
CYB5R3 | chr22 | 43027137 | 43027138 | rs8190430 | - | G | C/T | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,ILLUMINA,TISHKOFF, | 2 | 0.976982 |
CYB5R3 | chr22 | 43027355 | 43027356 | rs743889 | + | G | A/G | single | intron | 14 | 1000GENOMES,ABI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,GMI,ILLUMINA,NHLBI-ESP,SC_SNP,SI_EXO,SSMP,TSC-CSHL,YUSUKE, | 2 | 0.309503 |
CYB5R3 | chr22 | 43027629 | 43027630 | rs2071847 | + | C | C/T | single | intron | 11 | 1000GENOMES,BUSHMAN,EGP_SNPS,GMI,HGBASE,ILLUMINA,ILLUMINA-UK,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.737791 |
CYB5R3 | chr22 | 43027823 | 43027824 | rs6002829 | + | T | C/T | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.663790 |
CYB5R3 | chr22 | 43027868 | 43027869 | rs6002830 | + | C | C/T | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,SC_SNP,SSMP,TISHKOFF, | 2 | 0.935780 |
CYB5R3 | chr22 | 43027958 | 43027959 | rs8190427 | - | G | A/C | single | intron | 6 | 1000GENOMES,EGP_SNPS,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,TISHKOFF, | 2 | 0.015836 |
CYB5R3 | chr22 | 43028480 | 43028481 | rs3091344 | + | A | A/G | single | intron | 10 | 1000GENOMES,AFFY,COMPLETE_GENOMICS,EGP_SNPS,ILLUMINA,KRIBB_YJKIM,SC,SC_SNP,SSMP,TISHKOFF, | 2 | 0.944396 |
CYB5R3 | chr22 | 43028798 | 43028799 | rs2299832 | + | G | A/G | single | intron | 7 | 1000GENOMES,EGP_SNPS,GMI,HGSV,SSMP,TISHKOFF,YUSUKE, | 2 | 0.257859 |
CYB5R3 | chr22 | 43028802 | 43028803 | rs2267455 | + | T | C/T | single | intron | 8 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,GMI,HGSV,SSMP,TISHKOFF,YUSUKE, | 2 | 0.281170 |
CYB5R3 | chr22 | 43029137 | 43029138 | rs8190424 | - | G | C/T | single | intron | 8 | 1000GENOMES,AFFY,COMPLETE_GENOMICS,EGP_SNPS,ILLUMINA,KRIBB_YJKIM,PERLEGEN,TISHKOFF, | 2 | 0.964489 |
CYB5R3 | chr22 | 43029808 | 43029809 | rs2267456 | + | G | A/G | single | intron | 9 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,GMI,HGSV,ILLUMINA-UK,SSMP,TISHKOFF,YUSUKE, | 2 | 0.256986 |
CYB5R3 | chr22 | 43029848 | 43029849 | rs115880233 | + | C | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.984756 |
CYB5R3 | chr22 | 43030127 | 43030128 | rs148284803 | + | C | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.011938 |
CYB5R3 | chr22 | 43030128 | 43030129 | rs5996198 | + | G | A/G | single | intron | 3 | 1000GENOMES,SC_SNP,TISHKOFF, | 2 | 0.012397 |
CYB5R3 | chr22 | 43030323 | 43030324 | rs5996199 | + | A | A/G | single | intron | 13 | 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HGSV,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.338215 |
CYB5R3 | chr22 | 43030482 | 43030483 | rs150104600 | + | G | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.022498 |
CYB5R3 | chr22 | 43030518 | 43030519 | rs189727424 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.989440 |
CYB5R3 | chr22 | 43030869 | 43030870 | rs5758821 | + | A | A/G | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,HGSV,HUMANGENOME_JCVI,SC_SNP,SSMP, | 2 | 0.381760 |
CYB5R3 | chr22 | 43030949 | 43030950 | rs111896009 | + | A | A/G | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.985780 |
CYB5R3 | chr22 | 43031077 | 43031078 | rs5758822 | + | T | G/T | single | intron | 5 | 1000GENOMES,BL,GMI,SC_SNP,SSMP, | 2 | 0.287615 |
CYB5R3 | chr22 | 43031209 | 43031210 | rs5751314 | + | G | C/G | single | intron | 6 | 1000GENOMES,BL,COMPLETE_GENOMICS,GMI,SC_SNP,SSMP, | 2 | 0.272018 |
CYB5R3 | chr22 | 43031464 | 43031465 | rs142780849 | + | T | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.012856 |
CYB5R3 | chr22 | 43031656 | 43031657 | rs8190423 | - | G | C/T | single | intron | 10 | 1000GENOMES,ABI,BCM-HGSC-SUB,CSHL-HAPMAP,EGP_SNPS,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP, | 2 | 0.795382 |
CYB5R3 | chr22 | 43031819 | 43031820 | rs8190422 | - | G | C/T | single | intron | 10 | 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,CSHL-HAPMAP,EGP_SNPS,GMI,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.738612 |
CYB5R3 | chr22 | 43031942 | 43031943 | rs8190421 | - | G | C/T | single | intron | 10 | 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,HGSV,ILLUMINA,SC_SNP,SSMP,TISHKOFF, | 2 | 0.918960 |
CYB5R3 | chr22 | 43031950 | 43031951 | rs116260740 | + | C | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.984756 |
CYB5R3 | chr22 | 43031972 | 43031973 | rs8190420 | - | C | A/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,TISHKOFF, | 2 | 0.030560 |
CYB5R3 | chr22 | 43032123 | 43032124 | rs8190417 | - | A | G/T | single | intron | 1 | EGP_SNPS, | 2 | 0.011628 |
CYB5R3 | chr22 | 43032181 | 43032182 | rs6002837 | + | C | C/G | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,SC_SNP,SSMP,TISHKOFF, | 2 | 0.912065 |
CYB5R3 | chr22 | 43032228 | 43032229 | rs8140318 | + | A | A/G | single | intron | 8 | 1000GENOMES,BCM-HGSC-SUB,EGP_SNPS,GMI,ILLUMINA-UK,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.744663 |
CYB5R3 | chr22 | 43032243 | 43032244 | rs5758823 | + | C | A/C | single | intron | 14 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.662548 |
CYB5R3 | chr22 | 43032327 | 43032328 | rs5758824 | + | A | A/G | single | intron | 9 | 1000GENOMES,BL,COMPLETE_GENOMICS,EGP_SNPS,GMI,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.715222 |
CYB5R3 | chr22 | 43032374 | 43032375 | rs78317721 | + | G | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.015244 |
CYB5R3 | chr22 | 43032487 | 43032488 | rs8190416 | - | G | C/G | single | intron | 9 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,HGSV,HUMANGENOME_JCVI,SSMP,TISHKOFF, | 2 | 0.877391 |
CYB5R3 | chr22 | 43032741 | 43032742 | rs5996200 | + | C | C/T | single | coding-synon | 18 | 1000GENOMES,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CORNELL,EGP_SNPS,ENSEMBL,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,PJP,SC_SNP,SEATTLESEQ,SI_EXO,SSMP,TISHKOFF, | 2 | 0.882252 |
CYB5R3 | chr22 | 43032869 | 43032870 | rs2285141 | + | G | G/T | single | intron | 14 | 1000GENOMES,BCM-HGSC-SUB,CLINSEQ_SNP,CSHL-HAPMAP,EGP_SNPS,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SI_EXO,SSMP,TISHKOFF,YUSUKE, | 2 | 0.802529 |
CYB5R3 | chr22 | 43033021 | 43033022 | rs115713945 | + | G | C/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.010017 |
CYB5R3 | chr22 | 43033100 | 43033101 | rs8190415 | - | T | A/C | single | intron | 5 | 1000GENOMES,EGP_SNPS,ILLUMINA,KRIBB_YJKIM,TISHKOFF, | 2 | 0.988201 |
CYB5R3 | chr22 | 43033707 | 43033708 | rs115643374 | + | C | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.983885 |
CYB5R3 | chr22 | 43033799 | 43033800 | rs5751315 | + | C | C/T | single | intron | 6 | 1000GENOMES,BL,COMPLETE_GENOMICS,GMI,SC_SNP,SSMP, | 2 | 0.728899 |
CYB5R3 | chr22 | 43034143 | 43034144 | rs5751316 | + | A | A/G | single | intron | 13 | 1000GENOMES,ABI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.337609 |
CYB5R3 | chr22 | 43034174 | 43034175 | rs9607923 | + | G | A/G | single | intron | 5 | 1000GENOMES,HUMANGENOME_JCVI,SC_SNP,SSMP,TISHKOFF, | 2 | 0.077064 |
CYB5R3 | chr22 | 43034259 | 43034260 | rs6002838 | + | G | G/T | single | intron | 10 | 1000GENOMES,ABI,BL,CSHL-HAPMAP,GMI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.621212 |
CYB5R3 | chr22 | 43034424 | 43034425 | rs113270182 | + | A | A/T | single | intron | 4 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,GMI, | 2 | 0.754016 |
CYB5R3 | chr22 | 43034425 | 43034425 | rs200373318 | + | - | -/T | insertion | intron | 1 | 1000GENOMES, | 2 | 0.741965 |
CYB5R3 | chr22 | 43034449 | 43034450 | rs73423186 | + | C | C/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.969266 |
CYB5R3 | chr22 | 43034502 | 43034503 | rs74746483 | + | A | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA-UK,TISHKOFF, | 2 | 0.989450 |
CYB5R3 | chr22 | 43034601 | 43034602 | rs6002839 | + | G | C/G | single | intron | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.720832 |
CYB5R3 | chr22 | 43034666 | 43034667 | rs5996201 | + | G | A/G | single | intron | 3 | 1000GENOMES,SC_SNP,TISHKOFF, | 2 | 0.012397 |
CYB5R3 | chr22 | 43034959 | 43034960 | rs12171070 | + | A | A/C | single | intron | 3 | 1000GENOMES,SC_SNP,TISHKOFF, | 2 | 0.984321 |
CYB5R3 | chr22 | 43035097 | 43035098 | rs78852336 | + | G | G/T | single | intron | 7 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,GMI,MPI_MOLGEN,SSMP,TISHKOFF, | 2 | 0.754587 |
CYB5R3 | chr22 | 43035286 | 43035287 | rs142301218 | + | G | C/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.031221 |
CYB5R3 | chr22 | 43035295 | 43035296 | rs12158041 | + | C | C/T | single | intron | 3 | 1000GENOMES,SC_SNP,TISHKOFF, | 2 | 0.985767 |
CYB5R3 | chr22 | 43035343 | 43035344 | rs201181275 | + | T | -/T | deletion | intron,near-gene-3 | 1 | 1000GENOMES, | 2 | 0.627640 |
CYB5R3 | chr22 | 43035346 | 43035346 | rs201722897 | + | - | -/C | insertion | intron,near-gene-3 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.708907 |
CYB5R3 | chr22 | 43035370 | 43035371 | rs139626388 | + | C | C/T | single | intron,near-gene-3 | 1 | 1000GENOMES, | 2 | 0.980716 |
CYB5R3 | chr22 | 43035409 | 43035410 | rs137140 | + | A | A/G | single | intron,near-gene-3 | 18 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.059361 |
CYB5R3 | chr22 | 43035414 | 43035415 | rs7287830 | + | C | C/T | single | intron,near-gene-3 | 7 | 1000GENOMES,BCM_SSAHASNP,BUSHMAN,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.739569 |
CYB5R3 | chr22 | 43035581 | 43035582 | rs12329980 | + | C | C/T | single | intron,near-gene-3 | 3 | 1000GENOMES,SC_SNP,TISHKOFF, | 2 | 0.986685 |
CYB5R3 | chr22 | 43035792 | 43035793 | rs5751318 | + | G | C/G | single | intron,near-gene-3 | 14 | 1000GENOMES,AFFY,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF, | 2 | 0.343750 |
CYB5R3 | chr22 | 43035927 | 43035928 | rs12628044 | + | C | C/G | single | intron,untranslated-3 | 9 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,CSHL-HAPMAP,GMI,ILLUMINA-UK,NHLBI-ESP,SSMP,TISHKOFF, | 2 | 0.740147 |
CYB5R3 | chr22 | 43036244 | 43036245 | rs6519327 | + | G | A/G | single | coding-synon,intron | 12 | 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BUSHMAN,GMI,HGSV,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,PJP,SSMP,WI_SSAHASNP, | 2 | 0.270385 |
CYB5R3 | chr22 | 43036250 | 43036251 | rs11549139 | - | C | A/G | single | coding-synon,intron | 2 | CGAP-GAI,SEQUENOM, | 2 | 0.280000 |
CYB5R3 | chr22 | 43036469 | 43036470 | rs6519328 | + | C | C/T | single | intron,untranslated-5 | 9 | 1000GENOMES,BCM_SSAHASNP,BUSHMAN,GMI,HGSV,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.737276 |
CYB5R3 | chr22 | 43036550 | 43036551 | rs7293119 | + | A | A/T | single | intron,untranslated-5 | 4 | 1000GENOMES,BCM_SSAHASNP,HGSV,ILLUMINA-UK, | 2 | 0.984862 |
CYB5R3 | chr22 | 43036754 | 43036755 | rs34942722 | + | T | -/T | deletion | intron,near-gene-5 | 10 | 1000GENOMES,ABI,BILGI_BIOE,BL,GMI,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.364220 |
CYB5R3 | chr22 | 43036778 | 43036779 | rs7284660 | + | G | A/G | single | intron,near-gene-5 | 9 | 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BUSHMAN,GMI,HGSV,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.262941 |
CYB5R3 | chr22 | 43037083 | 43037084 | rs6002841 | + | A | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,COMPLETE_GENOMICS,SC_SNP,TISHKOFF, | 2 | 0.983501 |
CYB5R3 | chr22 | 43037320 | 43037321 | rs200924967 | + | T | -/T | deletion | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.015611 |
CYB5R3 | chr22 | 43037397 | 43037398 | rs12160248 | + | C | C/T | single | intron,near-gene-5 | 3 | 1000GENOMES,SC_SNP,TISHKOFF, | 2 | 0.983885 |
CYB5R3 | chr22 | 43037966 | 43037967 | rs9620076 | + | C | C/G | single | intron,near-gene-5 | 3 | 1000GENOMES,SC_SNP,TISHKOFF, | 2 | 0.984756 |
CYB5R3 | chr22 | 43038152 | 43038154 | rs34434782 | + | TA | -/TA | deletion | intron,near-gene-5 | 5 | 1000GENOMES,ABI,GMI,LUNTER,SSMP, | 2 | 0.240588 |
CYB5R3 | chr22 | 43038407 | 43038408 | rs5758830 | + | T | C/T | single | intron,near-gene-5 | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_SNP,SSMP,TISHKOFF, | 2 | 0.680219 |
CYB5R3 | chr22 | 43039228 | 43039229 | rs8190414 | - | G | C/T | single | intron | 3 | EGP_SNPS,ILLUMINA,KRIBB_YJKIM, | 2 | 0.987382 |
CYB5R3 | chr22 | 43039329 | 43039330 | rs8190413 | - | C | A/G | single | intron | 9 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,EGP_SNPS,GMI,HGSV,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.262774 |
CYB5R3 | chr22 | 43039451 | 43039452 | rs8190412 | - | C | C/G | single | intron | 8 | 1000GENOMES,BUSHMAN,EGP_SNPS,GMI,HGSV,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.261073 |
CYB5R3 | chr22 | 43039692 | 43039693 | rs8190410 | - | C | A/G | single | intron | 9 | 1000GENOMES,ABI,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,HUMANGENOME_JCVI,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.066763 |
CYB5R3 | chr22 | 43039981 | 43039982 | rs2267457 | + | C | C/T | single | intron | 11 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,EGP_SNPS,GMI,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF,YUSUKE, | 4 | 0.012349 |
CYB5R3 | chr22 | 43040081 | 43040082 | rs734637 | + | A | A/G | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_SNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.329521 |
CYB5R3 | chr22 | 43040302 | 43040303 | rs8190409 | - | C | G/T | single | intron | 5 | 1000GENOMES,EGP_SNPS,ILLUMINA,ILLUMINA-UK,TISHKOFF, | 2 | 0.984727 |
CYB5R3 | chr22 | 43040433 | 43040434 | rs8190407 | - | G | C/G | single | intron,missense | 9 | 1000GENOMES,AFFY,EGP_SNPS,EXOME_CHIP,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,NHLBI-ESP,TISHKOFF, | 2 | 0.978081 |
CYB5R3 | chr22 | 43040639 | 43040640 | rs6002846 | + | C | C/T | single | intron,untranslated-5 | 6 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,ILLUMINA,SC_SNP,TISHKOFF, | 2 | 0.986322 |
CYB5R3 | chr22 | 43040746 | 43040747 | rs78356298 | + | A | A/G | single | intron,near-gene-5 | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.984756 |
CYB5R3 | chr22 | 43040784 | 43040785 | rs8190405 | - | G | -/C | deletion | intron,near-gene-5 | 5 | 1000GENOMES,EGP_SNPS,ILLUMINA,LUNTER,TISHKOFF, | 2 | 0.012299 |
CYB5R3 | chr22 | 43040792 | 43040793 | rs763063 | + | G | A/G | single | intron,near-gene-5 | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.677215 |
CYB5R3 | chr22 | 43040806 | 43040807 | rs8190404 | - | C | A/G | single | intron,near-gene-5 | 14 | 1000GENOMES,ABI,AFFY,COMPLETE_GENOMICS,EGP_SNPS,ENSEMBL,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SC_SNP,SSMP,TISHKOFF, | 2 | 0.097412 |
CYB5R3 | chr22 | 43040809 | 43040810 | rs8190403 | - | C | A/G | single | intron,near-gene-5 | 6 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,ILLUMINA,KRIBB_YJKIM,TISHKOFF, | 2 | 0.012916 |
CYB5R3 | chr22 | 43040838 | 43040839 | rs5751319 | + | C | C/T | single | intron,near-gene-5 | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.311800 |
CYB5R3 | chr22 | 43040872 | 43040873 | rs2284088 | + | G | A/G | single | intron,near-gene-5 | 11 | 1000GENOMES,BUSHMAN,EGP_SNPS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,SSMP,TISHKOFF,YUSUKE, | 2 | 0.265899 |
CYB5R3 | chr22 | 43040920 | 43040921 | rs1109585 | + | C | C/T | single | intron,near-gene-5 | 18 | 1000GENOMES,ABI,BCM_SSAHASNP,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 2 | 0.590429 |
CYB5R3 | chr22 | 43041170 | 43041171 | rs6002848 | + | T | C/T | single | intron,near-gene-5 | 14 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_SNP,SSMP,TISHKOFF, | 2 | 0.360593 |
CYB5R3 | chr22 | 43041254 | 43041255 | rs8190402 | - | T | A/T | single | intron,near-gene-5 | 9 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,EGP_SNPS,GMI,HGSV,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.760426 |
CYB5R3 | chr22 | 43041390 | 43041391 | rs916321 | + | G | A/G | single | intron,near-gene-5 | 13 | 1000GENOMES,ABI,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,GMI,ILLUMINA,KRIBB_YJKIM,PJP,SC_SNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.289304 |
CYB5R3 | chr22 | 43041453 | 43041454 | rs8190399 | - | G | C/T | single | intron,near-gene-5 | 3 | EGP_SNPS,ILLUMINA,KRIBB_YJKIM, | 2 | 0.987302 |
CYB5R3 | chr22 | 43041459 | 43041460 | rs6002849 | + | C | A/C | single | intron,near-gene-5 | 5 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,SC_SNP,TISHKOFF, | 2 | 0.013652 |
CYB5R3 | chr22 | 43041488 | 43041489 | rs2413707 | + | G | A/G | single | intron,near-gene-5 | 12 | 1000GENOMES,ABI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,GMI,PJP,SC_SNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.301195 |
CYB5R3 | chr22 | 43041544 | 43041545 | rs6002850 | + | A | A/G | single | intron,near-gene-5 | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_SNP,SSMP,TISHKOFF, | 2 | 0.631628 |
CYB5R3 | chr22 | 43041592 | 43041593 | rs2413708 | + | A | A/G | single | intron,near-gene-5 | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.314252 |
CYB5R3 | chr22 | 43041635 | 43041636 | rs8190397 | - | C | A/G | single | intron,near-gene-5 | 5 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,ILLUMINA,TISHKOFF, | 2 | 0.025128 |
CYB5R3 | chr22 | 43041836 | 43041837 | rs6002851 | + | A | A/C | single | intron,near-gene-5 | 11 | 1000GENOMES,ABI,COMPLETE_GENOMICS,EGP_SNPS,HUMANGENOME_JCVI,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.899597 |
CYB5R3 | chr22 | 43041879 | 43041879 | rs8190395 | - | - | -/GCCACCT | insertion | intron,near-gene-5 | 4 | 1000GENOMES,BUSHMAN,EGP_SNPS,LUNTER, | 2 | 0.772222 |
CYB5R3 | chr22 | 43041896 | 43041897 | rs6002852 | + | T | A/T | single | intron,near-gene-5 | 12 | 1000GENOMES,ABI,COMPLETE_GENOMICS,EGP_SNPS,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.349831 |
CYB5R3 | chr22 | 43041901 | 43041902 | rs6002853 | + | C | C/T | single | intron,near-gene-5 | 14 | 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.649894 |
CYB5R3 | chr22 | 43041928 | 43041929 | rs8190393 | - | G | C/T | single | intron,near-gene-5 | 15 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.644520 |
CYB5R3 | chr22 | 43042129 | 43042130 | rs6002854 | + | C | A/C | single | intron,near-gene-5 | 5 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,SC_SNP,TISHKOFF, | 2 | 0.024487 |
CYB5R3 | chr22 | 43042196 | 43042197 | rs8190391 | - | C | C/G | single | intron,near-gene-5 | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,GMI,ILLUMINA,ILLUMINA-UK,PJP,SC_SNP,SSMP,TISHKOFF, | 2 | 0.680982 |
CYB5R3 | chr22 | 43042203 | 43042204 | rs73888346 | + | T | C/T | single | intron,near-gene-5 | 3 | 1000GENOMES,ILLUMINA-UK,TISHKOFF, | 2 | 0.011927 |
CYB5R3 | chr22 | 43042229 | 43042230 | rs8190390 | - | C | G/T | single | intron,near-gene-5 | 1 | EGP_SNPS, | 2 | 0.988764 |
CYB5R3 | chr22 | 43042617 | 43042618 | rs8190388 | - | T | A/G | single | intron,near-gene-5 | 4 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,TISHKOFF, | 2 | 0.987212 |
CYB5R3 | chr22 | 43042681 | 43042682 | rs8190387 | - | A | A/T | single | intron,untranslated-5 | 4 | 1000GENOMES,EGP_SNPS,ILLUMINA-UK,TISHKOFF, | 2 | 0.019541 |
CYB5R3 | chr22 | 43043086 | 43043087 | rs2284090 | + | G | A/G | single | intron,near-gene-5 | 10 | 1000GENOMES,BL,COMPLETE_GENOMICS,EGP_SNPS,GMI,HGSV,ILLUMINA,SSMP,TISHKOFF,YUSUKE, | 2 | 0.312040 |
CYB5R3 | chr22 | 43043169 | 43043170 | rs5996204 | + | T | G/T | single | intron,near-gene-5 | 5 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,SC_SNP,TISHKOFF, | 2 | 0.013781 |
CYB5R3 | chr22 | 43043174 | 43043175 | rs2267458 | + | G | C/G | single | intron,near-gene-5 | 9 | 1000GENOMES,BUSHMAN,EGP_SNPS,GMI,ILLUMINA-UK,PJP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.259785 |
CYB5R3 | chr22 | 43043237 | 43043238 | rs8190385 | - | G | A/C | single | intron,near-gene-5 | 10 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,EGP_SNPS,GMI,HGSV,ILLUMINA-UK,PJP,SSMP,TISHKOFF, | 2 | 0.259897 |
CYB5R3 | chr22 | 43043502 | 43043503 | rs6002855 | + | C | C/T | single | intron,near-gene-5 | 3 | 1000GENOMES,SC_SNP,TISHKOFF, | 2 | 0.986226 |
CYB5R3 | chr22 | 43043579 | 43043579 | rs376525577 | - | - | lengthTooLong | in-del | intron,near-gene-5 | 2 | BILGI_BIOE,EGP_SNPS, | 2 | 0.333333 |
CYB5R3 | chr22 | 43043876 | 43043877 | rs8190379 | - | A | -/CTTTTTT | in-del | intron,near-gene-5 | 2 | DEVINE_LAB,EGP_SNPS, | 2 | 0.020000 |
CYB5R3 | chr22 | 43043953 | 43043954 | rs2267459 | + | T | A/T | single | intron,near-gene-5 | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,EGP_SNPS,GMI,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.353267 |
CYB5R3 | chr22 | 43044148 | 43044149 | rs8190377 | - | T | A/G | single | intron,near-gene-5 | 5 | 1000GENOMES,COMPLETE_GENOMICS,EGP_SNPS,ILLUMINA,SSMP, | 2 | 0.977350 |
CYB5R3 | chr22 | 43044207 | 43044208 | rs137142 | + | A | A/T | single | intron,near-gene-5 | 19 | 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,EGP_SNPS,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.048490 |
CYB5R3 | chr22 | 43044207 | 43044233 | rs372457110 | - | ATCCCCAAGGAGGAG | -/GGACCTGGAGTCT | in-del | intron,near-gene-5 | 1 | EGP_SNPS, | 2 | 0.075000 |
CYB5R3 | chr22 | 43044218 | 43044218 | rs200553600 | + | - | -/G | insertion | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.960514 |
CYB5R3 | chr22 | 43044221 | 43044221 | rs201470795 | + | - | -/G | insertion | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.965106 |
CYB5R3 | chr22 | 43044283 | 43044289 | rs8190375 | - | TAGAGG | -/CCTCTA | deletion | intron,near-gene-5 | 8 | 1000GENOMES,BILGI_BIOE,BL,BUSHMAN,DEVINE_LAB,EGP_SNPS,GMI,LUNTER, | 2 | 0.672340 |
CYB5R3 | chr22 | 43044484 | 43044485 | rs6002856 | + | G | G/T | single | intron,near-gene-5 | 4 | 1000GENOMES,COMPLETE_GENOMICS,SC_SNP,TISHKOFF, | 2 | 0.988040 |
CYB5R3 | chr22 | 43044570 | 43044570 | rs8190373 | - | - | C/T | single | intron,near-gene-5 | 1 | EGP_SNPS, | 2 | 0.790698 |
CYB5R3 | chr22 | 43044570 | 43044570 | rs199960666 | + | - | -/GGAC | insertion | intron,near-gene-5 | 3 | 1000GENOMES,EGP_SNPS,LUNTER, | 2 | 0.986809 |
CYB5R3 | chr22 | 43044571 | 43044572 | rs60631826 | + | G | A/G | single | intron,near-gene-5 | 9 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,GMI,HGSV,ILLUMINA,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.247824 |
CYB5R3 | chr22 | 43044764 | 43044765 | rs8190371 | - | A | C/T | single | intron,near-gene-5 | 8 | 1000GENOMES,ABI,AFFY,EGP_SNPS,KRIBB_YJKIM,PJP,SSMP,TISHKOFF, | 2 | 0.072032 |
CYB5R3 | chr22 | 43044857 | 43044858 | rs201286455 | + | A | -/A | deletion | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.189624 |
CYB5R3 | chr22 | 43044862 | 43044863 | rs201483447 | + | A | -/A | deletion | intron,near-gene-5 | 1 | 1000GENOMES, | 2 | 0.184573 |
CYB5R3 | chr22 | 43045294 | 43045295 | rs8190370 | - | G | C/T | single | intron | 1 | EGP_SNPS, | 2 | 0.988764 |
CYB5R3 | chr22 | 43045457 | 43045458 | rs8190368 | - | G | A/C | single | near-gene-5 | 4 | 1000GENOMES,EGP_SNPS,GMI,SSMP, | 2 | 0.230475 |
CYB5R3 | chr22 | 43045512 | 43045512 | rs8190367 | - | - | -/A | insertion | near-gene-5 | 3 | EGP_SNPS,LUNTER,TISHKOFF, | 2 | 0.969880 |
CYB5R3 | chr22 | 43045536 | 43045537 | rs8190366 | - | T | A/G | single | near-gene-5 | 6 | 1000GENOMES,BUSHMAN,EGP_SNPS,GMI,KYUGEN,SSMP, | 2 | 0.763877 |
CYB5R3 | chr22 | 43045564 | 43045565 | rs8190365 | - | C | A/G | single | near-gene-5 | 3 | 1000GENOMES,EGP_SNPS,TISHKOFF, | 2 | 0.012831 |
CYB5R3 | chr22 | 43045571 | 43045572 | rs73888347 | + | C | A/C | single | near-gene-5 | 4 | 1000GENOMES,ILLUMINA-UK,TISHKOFF,TREPLAB, | 2 | 0.021520 |
CYBB | chrX | 37639746 | 37639747 | rs34798967 | + | C | C/T | single | intron | 4 | 1000GENOMES,ILLUMINA,KRIBB_YJKIM,RSG_UW, | 3 | 0.007871 |
CYBB | chrX | 37640004 | 37640004 | rs199646090 | + | - | -/TCTA | insertion | intron | 1 | 1000GENOMES, | 2 | 0.870012 |
CYBB | chrX | 37640196 | 37640197 | rs140037852 | + | A | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.954655 |
CYBB | chrX | 37640744 | 37640745 | rs10442522 | + | T | C/T | single | intron | 3 | 1000GENOMES,SC_SNP,TISHKOFF, | 2 | 0.010883 |
CYBB | chrX | 37640952 | 37640952 | rs199659333 | + | - | -/G | insertion | intron | 1 | 1000GENOMES, | 2 | 0.967956 |
CYBB | chrX | 37640953 | 37640953 | rs200718778 | + | - | -/T | insertion | intron | 1 | 1000GENOMES, | 2 | 0.967956 |
CYBB | chrX | 37640954 | 37640954 | rs35508209 | + | - | -/T | insertion | intron | 2 | RSG_UW,TISHKOFF, | 3 | 0.869048 |
CYBB | chrX | 37641483 | 37641484 | rs7059081 | + | C | C/G | single | intron | 9 | 1000GENOMES,AFFY,BCM_SSAHASNP,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,RSG_UW,SNP500CANCER, | 3 | 0.005419 |
CYBB | chrX | 37641525 | 37641526 | rs4422908 | + | C | A/C | single | intron | 21 | 1000GENOMES,ABI,AFFY,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,DEVINE_LAB,GMI,HGSV,ILLUMINA,ILLUMINA-UK,IMCJ-GDT,KRIBB_YJKIM,PJP,RSG_UW,SC_JCM,SC_SNP,SNP500CANCER,SSMP,TISHKOFF, | 3 | 0.027660 |
CYBB | chrX | 37641933 | 37641934 | rs35433602 | + | G | A/G | single | intron | 3 | 1000GENOMES,RSG_UW,TISHKOFF, | 3 | 0.010357 |
CYBB | chrX | 37642404 | 37642405 | rs4595265 | + | G | G/T | single | intron | 11 | 1000GENOMES,ABI,BGI,DEVINE_LAB,GMI,ILLUMINA,KRIBB_YJKIM,RSG_UW,SC_JCM,SC_SNP,SSMP, | 3 | 0.005102 |
CYBB | chrX | 37642602 | 37642603 | rs35687444 | + | G | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA,RSG_UW, | 3 | 0.010870 |
CYBB | chrX | 37642901 | 37642902 | rs6610661 | + | A | A/G | single | intron | 8 | 1000GENOMES,AFFY,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,RSG_UW,SC_SNP,SNP500CANCER, | 3 | 0.005994 |
CYBB | chrX | 37643241 | 37643242 | rs34556495 | + | T | G/T | single | intron | 3 | 1000GENOMES,ILLUMINA,RSG_UW, | 3 | 0.009759 |
CYBB | chrX | 37643378 | 37643379 | rs6417871 | + | C | C/T | single | intron | 18 | 1000GENOMES,ABI,AFFY,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP, | 3 | 0.006356 |
CYBB | chrX | 37643667 | 37643668 | rs6651773 | + | A | A/G | single | intron | 11 | 1000GENOMES,ABI,BGI,CSHL-HAPMAP,GMI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,SC_SNP,SSMP,TISHKOFF, | 2 | 0.822430 |
CYBB | chrX | 37643953 | 37643954 | rs73632406 | + | T | A/T | single | intron | 2 | 1000GENOMES,ILLUMINA-UK, | 2 | 0.035024 |
CYBB | chrX | 37643954 | 37643954 | rs202233517 | + | - | -/A | insertion | intron | 1 | 1000GENOMES, | 2 | 0.971584 |
CYBB | chrX | 37644424 | 37644425 | rs6520785 | + | C | C/G | single | intron | 13 | 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,ILLUMINA-UK,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP, | 3 | 0.010471 |
CYBB | chrX | 37644605 | 37644606 | rs17312212 | + | A | A/G | single | intron | 5 | 1000GENOMES,CSHL-HAPMAP,ILLUMINA,PERLEGEN,SSMP, | 3 | 0.010407 |
CYBB | chrX | 37644711 | 37644712 | rs140248108 | + | T | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.017533 |
CYBB | chrX | 37645375 | 37645376 | rs151166183 | + | G | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.017533 |
CYBB | chrX | 37645726 | 37645727 | rs5964099 | + | T | C/T | single | intron | 15 | 1000GENOMES,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSMP,TISHKOFF, | 3 | 0.006086 |
CYBB | chrX | 37645884 | 37645885 | rs17146226 | + | G | A/G | single | intron | 3 | 1000GENOMES,PERLEGEN,TISHKOFF, | 3 | 0.010870 |
CYBB | chrX | 37647861 | 37647862 | rs140504495 | + | T | G/T | single | intron | 1 | 1000GENOMES, | 2 | 0.012092 |
CYBB | chrX | 37647941 | 37647942 | rs143681625 | + | C | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.010883 |
CYBB | chrX | 37648572 | 37648574 | rs112829288 | + | AG | -/AG | deletion | intron | 2 | 1000GENOMES,BUSHMAN, | 2 | 0.059179 |
CYBB | chrX | 37648843 | 37648844 | rs148107944 | + | T | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.012092 |
CYBB | chrX | 37648892 | 37648892 | rs78961174 | + | - | -/A | insertion | intron | 3 | 1000GENOMES,BGI,GMI, | 2 | 0.842201 |
CYBB | chrX | 37648972 | 37648973 | rs5964107 | + | G | A/G | single | intron | 10 | 1000GENOMES,BGI,BUSHMAN,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,SC_SNP,SSMP, | 2 | 0.329960 |
CYBB | chrX | 37649934 | 37649935 | rs17146228 | + | G | G/T | single | intron | 2 | 1000GENOMES,PERLEGEN, | 3 | 0.010840 |
CYBB | chrX | 37650439 | 37650440 | rs138587474 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.957074 |
CYBB | chrX | 37650692 | 37650693 | rs34019674 | + | G | A/G | single | intron | 2 | 1000GENOMES,RSG_UW, | 3 | 0.010333 |
CYBB | chrX | 37650758 | 37650759 | rs17146231 | + | T | A/T | single | intron | 3 | 1000GENOMES,PERLEGEN,RSG_UW, | 3 | 0.018519 |
CYBB | chrX | 37650904 | 37650905 | rs34077421 | + | A | A/C | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,RSG_UW, | 3 | 0.010297 |
CYBB | chrX | 37651008 | 37651009 | rs35840291 | + | T | C/T | single | intron | 2 | 1000GENOMES,RSG_UW, | 3 | 0.010870 |
CYBB | chrX | 37651468 | 37651469 | rs35651685 | + | T | A/T | single | intron | 2 | 1000GENOMES,RSG_UW, | 3 | 0.010907 |
CYBB | chrX | 37651662 | 37651663 | rs4827298 | + | T | C/T | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,PERLEGEN,PJP,RSG_UW,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 3 | 0.018583 |
CYBB | chrX | 37651718 | 37651719 | rs5964113 | + | G | A/G | single | intron | 5 | 1000GENOMES,ILLUMINA,RSG_UW,SC_SNP,TISHKOFF, | 3 | 0.008829 |
CYBB | chrX | 37652517 | 37652518 | rs5917471 | + | C | C/T | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,RSG_UW,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 3 | 0.011189 |
CYBB | chrX | 37652613 | 37652614 | rs34097325 | + | A | A/G | single | intron | 5 | 1000GENOMES,ABI,ENSEMBL,ILLUMINA,RSG_UW, | 3 | 0.010845 |
CYBB | chrX | 37653140 | 37653141 | rs6610669 | + | C | C/T | single | intron | 9 | 1000GENOMES,BGI,GMI,PERLEGEN,RSG_UW,SC_SNP,SI_EXO,SSMP,TISHKOFF, | 3 | 0.022222 |
CYBB | chrX | 37653142 | 37653143 | rs35337171 | + | C | C/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,RSG_UW, | 3 | 0.202128 |
CYBB | chrX | 37653266 | 37653267 | rs17146242 | + | T | C/T | single | intron | 3 | 1000GENOMES,PERLEGEN,RSG_UW, | 3 | 0.018993 |
CYBB | chrX | 37654135 | 37654136 | rs12014060 | + | T | C/T | single | intron | 11 | 1000GENOMES,ABI,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.165865 |
CYBB | chrX | 37654251 | 37654252 | rs112306617 | + | T | C/T | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,TISHKOFF, | 2 | 0.015710 |
CYBB | chrX | 37654359 | 37654360 | rs3935493 | - | C | C/G | single | intron | 5 | 1000GENOMES,AFFY,KRIBB_YJKIM,PERLEGEN,TSC-CSHL, | 3 | 0.015556 |
CYBB | chrX | 37654945 | 37654946 | rs35851882 | + | C | C/T | single | intron | 4 | 1000GENOMES,ILLUMINA-UK,RSG_UW,TISHKOFF, | 3 | 0.010857 |
CYBB | chrX | 37655021 | 37655022 | rs35578419 | + | A | A/G | single | intron | 3 | 1000GENOMES,GMI,RSG_UW, | 3 | 0.010870 |
CYBB | chrX | 37655654 | 37655655 | rs35959988 | + | A | A/C | single | intron | 4 | 1000GENOMES,ILLUMINA-UK,RSG_UW,TISHKOFF, | 3 | 0.010870 |
CYBB | chrX | 37655735 | 37655739 | rs35574346 | + | AAAC | -/AAAC | deletion | intron | 3 | GMI,RSG_UW,SSMP, | 2 | 0.163043 |
CYBB | chrX | 37655740 | 37655744 | rs199704403 | + | AACC | -/AACC | deletion | intron | 1 | 1000GENOMES, | 2 | 0.123942 |
CYBB | chrX | 37655802 | 37655804 | rs200800216 | + | TT | -/TT | deletion | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.010278 |
CYBB | chrX | 37656565 | 37656566 | rs139892460 | + | C | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.986094 |
CYBB | chrX | 37657891 | 37657892 | rs34052166 | + | T | A/T | single | intron | 4 | 1000GENOMES,ILLUMINA-UK,RSG_UW,TISHKOFF, | 3 | 0.010857 |
CYBB | chrX | 37657911 | 37657912 | rs34602937 | + | T | G/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,RSG_UW, | 3 | 0.010857 |
CYBB | chrX | 37658061 | 37658062 | rs35015762 | + | A | A/G | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,KRIBB_YJKIM,RSG_UW, | 3 | 0.008426 |
CYBB | chrX | 37658388 | 37658389 | rs34065977 | + | C | C/T | single | intron | 7 | 1000GENOMES,CLINSEQ_SNP,COMPLETE_GENOMICS,ILLUMINA,NHLBI-ESP,RSG_UW,SNP500CANCER, | 3 | 0.008197 |
CYBB | chrX | 37658454 | 37658455 | rs5964125 | + | A | A/G | single | intron | 14 | 1000GENOMES,ABI,BGI,CSHL-HAPMAP,ENSEMBL,GMI,IMCJ-GDT,PERLEGEN,RSG_UW,SC_SNP,SNP500CANCER,SSAHASNP,SSMP,TISHKOFF, | 3 | 0.015566 |
CYBB | chrX | 37658724 | 37658725 | rs35037870 | + | C | C/T | single | intron | 4 | 1000GENOMES,ILLUMINA,KRIBB_YJKIM,RSG_UW, | 3 | 0.008821 |
CYBB | chrX | 37658746 | 37658747 | rs147083599 | + | T | G/T | single | intron | 1 | 1000GENOMES, | 2 | 0.012696 |
CYBB | chrX | 37659055 | 37659056 | rs5963309 | + | A | A/G | single | intron | 11 | 1000GENOMES,AFFY,BGI,GMI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,RSG_UW,SC_SNP,SSMP,TISHKOFF, | 3 | 0.034033 |
CYBB | chrX | 37659252 | 37659253 | rs73632407 | + | A | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA-UK,TISHKOFF, | 2 | 0.966184 |
CYBB | chrX | 37659561 | 37659562 | rs5963310 | + | T | A/T | single | intron | 13 | 1000GENOMES,ABI,AFFY,BGI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,ILLUMINA-UK,PERLEGEN,SC_SNP,SSMP,TISHKOFF, | 3 | 0.017703 |
CYBB | chrX | 37660049 | 37660050 | rs144619445 | + | C | A/C | single | intron | 1 | 1000GENOMES, | 2 | 0.012092 |
CYBB | chrX | 37660209 | 37660210 | rs113353909 | + | T | C/T | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.027190 |
CYBB | chrX | 37660427 | 37660428 | rs35670962 | + | T | G/T | single | intron | 2 | 1000GENOMES,RSG_UW, | 3 | 0.009748 |
CYBB | chrX | 37660876 | 37660877 | rs191514138 | + | G | G/T | single | intron | 1 | 1000GENOMES, | 2 | 0.968561 |
CYBB | chrX | 37660918 | 37660919 | rs35839491 | + | G | A/G | single | intron | 3 | 1000GENOMES,RSG_UW,TISHKOFF, | 3 | 0.008631 |
CYBB | chrX | 37660941 | 37660942 | rs35316892 | + | G | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA,RSG_UW, | 3 | 0.008631 |
CYBB | chrX | 37661362 | 37661363 | rs34876447 | + | C | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA,RSG_UW, | 3 | 0.010870 |
CYBB | chrX | 37661417 | 37661418 | rs34189524 | + | T | C/T | single | intron | 3 | 1000GENOMES,RSG_UW,TISHKOFF, | 3 | 0.010870 |
CYBB | chrX | 37661444 | 37661445 | rs34090774 | + | G | A/G | single | intron | 5 | 1000GENOMES,HGSV,ILLUMINA-UK,RSG_UW,TISHKOFF, | 3 | 0.010857 |
CYBB | chrX | 37662276 | 37662277 | rs139887290 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.033253 |
CYBB | chrX | 37662368 | 37662369 | rs17146255 | + | C | C/T | single | intron | 6 | 1000GENOMES,BGI,GMI,PERLEGEN,SSMP,TISHKOFF, | 3 | 0.010840 |
CYBB | chrX | 37662577 | 37662579 | rs201808383 | + | CT | -/CT | deletion | intron | 1 | 1000GENOMES, | 2 | 0.033253 |
CYBB | chrX | 37663233 | 37663234 | rs2228117 | + | G | A/G | single | coding-synon | 13 | 1000GENOMES,AFFY,CORNELL,HGSV,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,PERLEGEN,RSG_UW,SEATTLESEQ,SNP500CANCER,TISHKOFF,WIAF-CSNP, | 3 | 0.006435 |
CYBB | chrX | 37664107 | 37664108 | rs35724386 | + | C | C/T | single | intron | 2 | 1000GENOMES,RSG_UW, | 3 | 0.010321 |
CYBB | chrX | 37664439 | 37664440 | rs34834015 | + | C | C/G/T | single | intron | 10 | 1000GENOMES,BUSHMAN,CLINSEQ_SNP,CORRELAGEN,ILLUMINA,ILLUMINA-UK,NHLBI-ESP,RSG_UW,SNP500CANCER,TISHKOFF, | 4 | 0.009130 |
CYBB | chrX | 37664787 | 37664788 | rs34406087 | + | T | C/T | single | intron | 4 | 1000GENOMES,ILLUMINA-UK,RSG_UW,TISHKOFF, | 3 | 0.010321 |
CYBB | chrX | 37664810 | 37664811 | rs35773320 | + | A | A/G | single | intron | 6 | 1000GENOMES,BGI,GMI,RSG_UW,SSMP,TISHKOFF, | 3 | 0.010333 |
CYBB | chrX | 37664839 | 37664840 | rs34697490 | + | C | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA,RSG_UW, | 3 | 0.010333 |
CYBB | chrX | 37664977 | 37664978 | rs12011274 | + | A | A/G | single | intron | 6 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL,ILLUMINA,RSG_UW, | 3 | 0.008507 |
CYBB | chrX | 37665299 | 37665300 | rs35629501 | + | A | A/G | single | intron | 3 | 1000GENOMES,RSG_UW,TISHKOFF, | 3 | 0.009748 |
CYBB | chrX | 37665813 | 37665814 | rs35385341 | + | C | C/T | single | intron | 3 | 1000GENOMES,NHLBI-ESP,RSG_UW, | 3 | 0.010309 |
CYBB | chrX | 37665981 | 37665982 | rs34571491 | + | C | C/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,RSG_UW, | 3 | 0.010857 |
CYBB | chrX | 37666130 | 37666131 | rs5964146 | + | G | C/G | single | intron | 8 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,RSG_UW,SC_SNP,TISHKOFF, | 3 | 0.010814 |
CYBB | chrX | 37666145 | 37666145 | rs200426524 | + | - | -/TC | insertion | intron | 1 | 1000GENOMES, | 2 | 0.890568 |
CYBB | chrX | 37666150 | 37666151 | rs72619429 | + | G | C/G | single | intron | 4 | 1000GENOMES,BGI,GMI,TISHKOFF, | 2 | 0.123337 |
CYBB | chrX | 37666244 | 37666245 | rs12848910 | + | A | A/G | single | intron | 8 | 1000GENOMES,ABI,ENSEMBL,ILLUMINA,PERLEGEN,PJP,RSG_UW,SSAHASNP, | 3 | 0.047876 |
CYBB | chrX | 37667430 | 37667431 | rs7886998 | + | T | C/T | single | intron | 8 | 1000GENOMES,BGI,GMI,HGSV,ILLUMINA-UK,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.159420 |
CYBB | chrX | 37669017 | 37669017 | rs201272350 | + | - | -/CTT | insertion | cds-indel | 1 | 1000GENOMES, | 2 | 0.984281 |
CYBB | chrX | 37669693 | 37669694 | rs5964149 | + | A | A/G | single | intron | 16 | 1000GENOMES,BGI,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KYUGEN,PERLEGEN,RSG_UW,SC_SNP,SNP500CANCER,SSMP,TISHKOFF, | 3 | 0.010017 |
CYBB | chrX | 37669698 | 37669699 | rs28667482 | + | G | G/T | single | intron | 6 | 1000GENOMES,BUSHMAN,RSG_UW,SNP500CANCER,SSAHASNP,TISHKOFF, | 3 | 0.009157 |
CYBB | chrX | 37670626 | 37670627 | rs34407298 | + | A | A/G | single | untranslated-3 | 2 | SNP500CANCER,SSMP, | 2 | 0.975799 |
CYBB | chrX | 37670728 | 37670729 | rs5964151 | + | T | G/T | single | untranslated-3 | 19 | 1000GENOMES,AFFY,BGI,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,ILLUMINA-UK,IMCJ-GDT,KRIBB_YJKIM,PERLEGEN,PJP,RSG_UW,SC_SNP,SI_EXO,SNP500CANCER,SSMP,TISHKOFF,WI_SSAHASNP, | 3 | 0.031522 |
CYBB | chrX | 37671030 | 37671031 | rs17146280 | + | A | A/G | single | untranslated-3 | 7 | 1000GENOMES,AFFY,ILLUMINA,KRIBB_YJKIM,PERLEGEN,RSG_UW,SNP500CANCER, | 3 | 0.013603 |
CYBB | chrX | 37671601 | 37671602 | rs34920432 | + | G | A/G | single | untranslated-3 | 4 | 1000GENOMES,ILLUMINA,RSG_UW,TISHKOFF, | 3 | 0.010882 |
CYBB | chrX | 37671707 | 37671708 | rs35782029 | + | A | -/A | deletion | untranslated-3 | 1 | RSG_UW, | 3 | 0.011111 |
CYBB | chrX | 37671814 | 37671815 | rs35278070 | + | A | A/G | single | untranslated-3 | 1 | RSG_UW, | 3 | 0.206522 |
CYBB | chrX | 37671842 | 37671843 | rs34380982 | + | T | C/T | single | untranslated-3 | 2 | RSG_UW,SI_EXO, | 3 | 0.206522 |
CYBB | chrX | 37672010 | 37672011 | rs35621886 | + | C | C/T | single | untranslated-3 | 2 | 1000GENOMES,RSG_UW, | 3 | 0.010882 |
D2HGDH | chr2 | 242674103 | 242674104 | rs7370843 | + | A | A/G | single | untranslated-5 | 9 | 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,GMI,HUMANGENOME_JCVI,ILLUMINA,PJP,SSMP,WI_SSAHASNP, | 2 | 0.249422 |
D2HGDH | chr2 | 242674268 | 242674270 | rs78312666 | + | AC | -/AC | deletion | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.206152 |
D2HGDH | chr2 | 242674282 | 242674283 | rs139818949 | + | C | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.970615 |
D2HGDH | chr2 | 242674312 | 242674313 | rs79248835 | + | A | A/C | single | intron | 5 | 1000GENOMES,BL,ENSEMBL,GMI,SSMP, | 2 | 0.777064 |
D2HGDH | chr2 | 242674350 | 242674351 | rs80241045 | + | C | C/G | single | intron | 5 | 1000GENOMES,BL,ENSEMBL,GMI,SSMP, | 2 | 0.782110 |
D2HGDH | chr2 | 242674351 | 242674352 | rs113276310 | + | C | C/G | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.981651 |
D2HGDH | chr2 | 242674446 | 242674447 | rs139210804 | + | G | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.028926 |
D2HGDH | chr2 | 242674472 | 242674473 | rs149964492 | + | C | C/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.971074 |
D2HGDH | chr2 | 242674548 | 242674549 | rs62191976 | + | C | C/G | single | untranslated-5 | 4 | 1000GENOMES,BCMHGSC_JDW,BUSHMAN,ILLUMINA, | 2 | 0.961503 |
D2HGDH | chr2 | 242674681 | 242674682 | rs4675887 | - | C | C/G | single | missense | 4 | 1000GENOMES,EXOME_CHIP,SSMP,WI_SSAHASNP, | 2 | 0.037190 |
D2HGDH | chr2 | 242674802 | 242674803 | rs77940364 | + | G | A/G | single | missense | 8 | 1000GENOMES,BGI,BL,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,SSMP, | 2 | 0.214534 |
D2HGDH | chr2 | 242674939 | 242674940 | rs148813816 | + | G | A/G | single | intron | 4 | 1000GENOMES,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.021579 |
D2HGDH | chr2 | 242674958 | 242674959 | rs62191977 | + | T | G/T | single | intron | 12 | 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,NHLBI-ESP,PJP,SSMP, | 2 | 0.733638 |
D2HGDH | chr2 | 242675216 | 242675217 | rs143455273 | + | C | C/G | single | intron | 1 | 1000GENOMES, | 2 | 0.986685 |
D2HGDH | chr2 | 242675281 | 242675282 | rs151109371 | + | A | A/T | single | intron | 1 | 1000GENOMES, | 2 | 0.984848 |
D2HGDH | chr2 | 242675321 | 242675322 | rs113863162 | + | C | C/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.978899 |
D2HGDH | chr2 | 242675499 | 242675500 | rs139238068 | + | G | C/G | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.029385 |
D2HGDH | chr2 | 242675847 | 242675847 | rs200144616 | + | - | -/CCTCCGCTG | insertion | cds-indel | 1 | 1000GENOMES, | 2 | 0.783287 |
D2HGDH | chr2 | 242675961 | 242675964 | rs200192176 | + | CTC | -/CTC | deletion | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.039027 |
D2HGDH | chr2 | 242676070 | 242676071 | rs147051107 | + | A | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.985308 |
D2HGDH | chr2 | 242676141 | 242676142 | rs78341235 | + | T | C/T | single | intron | 6 | 1000GENOMES,BL,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.243813 |
D2HGDH | chr2 | 242676236 | 242676237 | rs144221318 | + | G | A/G | single | intron | 4 | 1000GENOMES,GMI,SSMP,TISHKOFF, | 2 | 0.028007 |
D2HGDH | chr2 | 242676419 | 242676420 | rs112887688 | + | G | A/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.021101 |
D2HGDH | chr2 | 242676540 | 242676541 | rs77525052 | + | G | A/G | single | intron | 9 | 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SSMP,TISHKOFF, | 2 | 0.307130 |
D2HGDH | chr2 | 242676945 | 242676946 | rs146203223 | + | T | C/T | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.029385 |
D2HGDH | chr2 | 242676950 | 242676951 | rs113499454 | + | G | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.031193 |
D2HGDH | chr2 | 242677183 | 242677184 | rs71351115 | + | G | A/G | single | intron | 10 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,PJP,SSMP,TISHKOFF, | 2 | 0.299360 |
D2HGDH | chr2 | 242677260 | 242677261 | rs71351116 | + | G | A/G | single | intron | 11 | 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.610401 |
D2HGDH | chr2 | 242677823 | 242677824 | rs147958726 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.984848 |
D2HGDH | chr2 | 242678653 | 242678654 | rs145967151 | + | C | C/T | single | intron | 5 | 1000GENOMES,BL,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.928834 |
D2HGDH | chr2 | 242678822 | 242678823 | rs6747094 | + | C | C/T | single | intron | 9 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.864531 |
D2HGDH | chr2 | 242678877 | 242678878 | rs147949069 | + | T | G/T | single | intron | 1 | 1000GENOMES, | 2 | 0.010560 |
D2HGDH | chr2 | 242678897 | 242678898 | rs4675886 | - | C | C/G | single | intron | 16 | 1000GENOMES,AFFY,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,KRIBB_YJKIM,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.752439 |
D2HGDH | chr2 | 242678975 | 242678976 | rs4675885 | - | T | A/T | single | intron | 14 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.363429 |
D2HGDH | chr2 | 242679168 | 242679169 | rs149204343 | + | G | A/G | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.026171 |
D2HGDH | chr2 | 242679234 | 242679235 | rs6707853 | + | A | A/G | single | intron | 14 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,PJP,SSMP,TISHKOFF, | 2 | 0.037882 |
D2HGDH | chr2 | 242679376 | 242679377 | rs145651468 | + | T | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.023875 |
D2HGDH | chr2 | 242679576 | 242679577 | rs4073277 | + | G | A/G | single | intron | 9 | 1000GENOMES,AFFY,BUSHMAN,GMI,ILLUMINA,SC_JCM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.091426 |
D2HGDH | chr2 | 242679681 | 242679681 | rs71406481 | + | - | -/C | insertion | intron | 6 | 1000GENOMES,BILGI_BIOE,GMI,HUMANGENOME_JCVI,SSMP,TISHKOFF, | 2 | 0.874771 |
D2HGDH | chr2 | 242679708 | 242679709 | rs138008374 | + | G | A/G | single | intron | 3 | 1000GENOMES,TISHKOFF,WARNICH_LAB, | 2 | 0.016529 |
D2HGDH | chr2 | 242679863 | 242679864 | rs149511781 | + | A | A/G | single | intron | 3 | 1000GENOMES,SSMP,TISHKOFF, | 2 | 0.976584 |
D2HGDH | chr2 | 242679889 | 242679890 | rs4073278 | + | C | C/T | single | intron | 5 | 1000GENOMES,GMI,SC_JCM,SSMP,TSC-CSHL, | 2 | 0.921947 |
D2HGDH | chr2 | 242679980 | 242679981 | rs142766256 | + | C | C/G | single | intron | 1 | 1000GENOMES, | 2 | 0.989899 |
D2HGDH | chr2 | 242680018 | 242680019 | rs60611916 | + | T | C/T | single | intron | 10 | 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,PJP,SSMP,TISHKOFF, | 2 | 0.528121 |
D2HGDH | chr2 | 242680029 | 242680030 | rs62191982 | + | A | A/G | single | intron | 10 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,PJP,SSMP,TISHKOFF, | 2 | 0.470965 |
D2HGDH | chr2 | 242680098 | 242680099 | rs4073892 | - | T | A/G | single | intron | 4 | 1000GENOMES,SC_JCM,TISHKOFF,TSC-CSHL, | 2 | 0.977502 |
D2HGDH | chr2 | 242680131 | 242680132 | rs4073891 | - | T | A/G | single | intron | 13 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.516941 |
D2HGDH | chr2 | 242680228 | 242680229 | rs60946542 | + | G | A/G | single | intron | 9 | 1000GENOMES,BCMHGSC_JDW,BL,COMPLETE_GENOMICS,GMI,HGSV,PJP,SSMP,TISHKOFF, | 2 | 0.216575 |
D2HGDH | chr2 | 242680365 | 242680366 | rs4073890 | - | A | C/T | single | intron | 13 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.529922 |
D2HGDH | chr2 | 242680374 | 242680375 | rs79423321 | + | C | C/T | single | intron | 5 | 1000GENOMES,BUSHMAN,ENSEMBL,SSMP,TISHKOFF, | 2 | 0.907221 |
D2HGDH | chr2 | 242680424 | 242680425 | rs145731647 | + | A | A/T | single | intron | 3 | 1000GENOMES,ILLUMINA,NHLBI-ESP, | 2 | 0.989899 |
D2HGDH | chr2 | 242680429 | 242680430 | rs4073889 | - | A | C/T | single | intron | 15 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,NHLBI-ESP,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.534640 |
D2HGDH | chr2 | 242680799 | 242680800 | rs147390667 | + | C | A/C | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.044995 |
D2HGDH | chr2 | 242680954 | 242680955 | rs78707112 | + | C | C/T | single | intron | 4 | 1000GENOMES,BUSHMAN,ENSEMBL,SSMP, | 2 | 0.818890 |
D2HGDH | chr2 | 242681587 | 242681588 | rs62192001 | + | G | A/G | single | intron | 12 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,PJP,SSMP,TISHKOFF, | 2 | 0.527613 |
D2HGDH | chr2 | 242682028 | 242682029 | rs78147778 | + | T | C/T | single | intron | 9 | 1000GENOMES,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ILLUMINA,NHLBI-ESP,SSMP,TISHKOFF, | 2 | 0.223443 |
D2HGDH | chr2 | 242682196 | 242682197 | rs146579036 | + | T | A/T | single | intron | 1 | 1000GENOMES, | 2 | 0.010101 |
D2HGDH | chr2 | 242682274 | 242682275 | rs149777298 | + | T | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.077135 |
D2HGDH | chr2 | 242682283 | 242682284 | rs75958744 | + | G | A/G | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.046832 |
D2HGDH | chr2 | 242682400 | 242682401 | rs6756187 | + | A | A/G | single | intron | 4 | 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,SSMP, | 2 | 0.861009 |
D2HGDH | chr2 | 242682491 | 242682492 | rs113434116 | + | C | C/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,SSMP, | 2 | 0.900000 |
D2HGDH | chr2 | 242682514 | 242682515 | rs147658446 | + | T | C/T | single | intron | 3 | 1000GENOMES,BL,SSMP, | 2 | 0.278237 |
D2HGDH | chr2 | 242682532 | 242682533 | rs6756399 | + | A | A/C/G | single | intron | 7 | 1000GENOMES,BCM-HGSC-SUB,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,SSMP, | 2 | 0.483059 |
D2HGDH | chr2 | 242682554 | 242682555 | rs113611133 | + | C | C/T | single | intron | 6 | 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,MPI_MOLGEN,SSMP, | 2 | 0.576077 |
D2HGDH | chr2 | 242682626 | 242682627 | rs150504386 | + | G | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.011938 |
D2HGDH | chr2 | 242682843 | 242682844 | rs62192002 | + | T | C/T | single | intron | 10 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.553425 |
D2HGDH | chr2 | 242683373 | 242683374 | rs62192003 | + | T | C/T | single | intron | 11 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,PJP,SSMP,TISHKOFF, | 2 | 0.528767 |
D2HGDH | chr2 | 242683470 | 242683471 | rs62192004 | + | A | A/G | single | intron | 11 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,PJP,SSMP,TISHKOFF, | 2 | 0.471905 |
D2HGDH | chr2 | 242683521 | 242683522 | rs62192005 | + | C | C/T | single | intron | 10 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,PJP,SSMP,TISHKOFF, | 2 | 0.484475 |
D2HGDH | chr2 | 242683991 | 242683992 | rs4366942 | - | A | C/T | single | intron | 16 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DEVINE_LAB,ENSEMBL,GMI,PJP,SC_JCM,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.526773 |
D2HGDH | chr2 | 242684114 | 242684115 | rs4234097 | - | T | A/G | single | intron | 16 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,NHLBI-ESP,PJP,SC_JCM,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.471233 |
D2HGDH | chr2 | 242684393 | 242684394 | rs4675884 | - | G | C/G | single | intron | 12 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HUMANGENOME_JCVI,PJP,TISHKOFF,WI_SSAHASNP, | 2 | 0.052126 |
D2HGDH | chr2 | 242684573 | 242684574 | rs62192009 | + | C | A/C | single | intron | 12 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,PJP,SSMP,TISHKOFF, | 2 | 0.528095 |
D2HGDH | chr2 | 242684872 | 242684873 | rs148541768 | + | C | C/T | single | intron | 3 | 1000GENOMES,BL,ILLUMINA, | 2 | 0.986685 |
D2HGDH | chr2 | 242684943 | 242684944 | rs149797557 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.968320 |
D2HGDH | chr2 | 242684944 | 242684945 | rs35532480 | + | A | A/G | single | intron | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,PJP,SSMP,TISHKOFF, | 2 | 0.473227 |
D2HGDH | chr2 | 242685108 | 242685109 | rs34293993 | + | T | C/T | single | intron | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SSMP,TISHKOFF, | 2 | 0.523505 |
D2HGDH | chr2 | 242685297 | 242685298 | rs62192012 | + | C | C/T | single | intron | 9 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.915674 |
D2HGDH | chr2 | 242685840 | 242685841 | rs113195051 | + | C | C/T | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.925688 |
D2HGDH | chr2 | 242686015 | 242686016 | rs111555081 | + | A | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.985314 |
D2HGDH | chr2 | 242686105 | 242686106 | rs111957722 | + | C | C/T | single | intron | 7 | 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,GMI,MPI_MOLGEN,SSMP,TISHKOFF, | 2 | 0.953211 |
D2HGDH | chr2 | 242686170 | 242686171 | rs62192013 | + | T | C/T | single | intron | 9 | 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,PJP,SSMP,TISHKOFF, | 2 | 0.525858 |
D2HGDH | chr2 | 242686528 | 242686529 | rs35070043 | + | A | A/T | single | intron | 12 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SSMP, | 2 | 0.518282 |
D2HGDH | chr2 | 242686573 | 242686574 | rs62192015 | + | G | A/G | single | intron | 4 | 1000GENOMES,BCMHGSC_JDW,ILLUMINA,TISHKOFF, | 2 | 0.016529 |
D2HGDH | chr2 | 242686579 | 242686580 | rs148338633 | + | C | C/G | single | intron | 1 | 1000GENOMES, | 2 | 0.983930 |
D2HGDH | chr2 | 242686628 | 242686629 | rs34013704 | + | G | A/G | single | intron | 6 | 1000GENOMES,ABI,BUSHMAN,ENSEMBL,SSMP,TISHKOFF, | 2 | 0.114822 |
D2HGDH | chr2 | 242686784 | 242686785 | rs112239301 | + | G | A/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.056881 |
D2HGDH | chr2 | 242687014 | 242687015 | rs6715894 | + | A | A/G | single | intron | 11 | 1000GENOMES,ABI,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SSMP,TISHKOFF, | 2 | 0.448402 |
D2HGDH | chr2 | 242687153 | 242687154 | rs6721985 | + | T | C/T | single | intron | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SSMP,TISHKOFF, | 2 | 0.528793 |
D2HGDH | chr2 | 242687199 | 242687200 | rs148654476 | + | A | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.964646 |
D2HGDH | chr2 | 242687578 | 242687579 | rs34647532 | + | A | A/C | single | intron | 11 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,SSMP,TISHKOFF, | 2 | 0.489255 |
D2HGDH | chr2 | 242687831 | 242687832 | rs181501466 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.013315 |
D2HGDH | chr2 | 242688202 | 242688203 | rs34519321 | + | C | C/T | single | intron | 12 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,SSMP,TISHKOFF, | 2 | 0.471956 |
D2HGDH | chr2 | 242688291 | 242688292 | rs34767042 | + | C | C/T | single | intron | 12 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,SSMP,TISHKOFF, | 2 | 0.471931 |
D2HGDH | chr2 | 242688333 | 242688334 | rs143753076 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.989899 |
D2HGDH | chr2 | 242688365 | 242688366 | rs35386923 | + | C | C/T | single | intron | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SSMP,TISHKOFF, | 2 | 0.492701 |
D2HGDH | chr2 | 242688423 | 242688424 | rs143909952 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.011019 |
D2HGDH | chr2 | 242688433 | 242688434 | rs34077392 | + | T | C/T | single | intron | 10 | 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,TISHKOFF, | 2 | 0.445816 |
D2HGDH | chr2 | 242688442 | 242688442 | rs35249772 | + | - | -/C | insertion | intron | 7 | 1000GENOMES,ABI,BL,DEVINE_LAB,GMI,SSMP,TISHKOFF, | 2 | 0.557392 |
D2HGDH | chr2 | 242688671 | 242688672 | rs78280775 | + | C | C/T | single | intron | 10 | 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,PJP,SSMP,TISHKOFF, | 2 | 0.471879 |
D2HGDH | chr2 | 242688821 | 242688822 | rs139610220 | + | C | C/T | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.987144 |
D2HGDH | chr2 | 242688869 | 242688870 | rs113047262 | + | T | C/T | single | intron | 10 | 1000GENOMES,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,MPI_MOLGEN,PJP,SSMP,TISHKOFF, | 2 | 0.528121 |
D2HGDH | chr2 | 242689184 | 242689185 | rs4675883 | - | T | A/G | single | intron | 13 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.473300 |
D2HGDH | chr2 | 242689262 | 242689263 | rs4075957 | - | G | C/T | single | intron | 16 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SC_JCM,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.473708 |
D2HGDH | chr2 | 242689808 | 242689809 | rs111252594 | + | C | C/T | single | intron | 3 | 1000GENOMES,BUSHMAN,SSMP, | 2 | 0.920257 |
D2HGDH | chr2 | 242689853 | 242689854 | rs187567086 | + | T | G/T | single | intron | 1 | 1000GENOMES, | 2 | 0.071166 |
D2HGDH | chr2 | 242689862 | 242689863 | rs34802755 | + | T | C/T | single | intron | 6 | 1000GENOMES,ABI,BUSHMAN,ENSEMBL,SSMP,TISHKOFF, | 2 | 0.116088 |
D2HGDH | chr2 | 242689956 | 242689957 | rs4675882 | - | T | A/G | single | intron | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,PJP,SSMP,WI_SSAHASNP, | 2 | 0.470347 |
D2HGDH | chr2 | 242689986 | 242689987 | rs4675881 | - | T | A/G | single | intron | 7 | 1000GENOMES,ABI,ENSEMBL,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.907509 |
D2HGDH | chr2 | 242690182 | 242690183 | rs111901988 | + | C | C/T | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.986697 |
D2HGDH | chr2 | 242690527 | 242690528 | rs146473617 | + | C | C/T | single | intron | 4 | 1000GENOMES,GMI,SSMP,WARNICH_LAB, | 2 | 0.955005 |
D2HGDH | chr2 | 242690674 | 242690675 | rs1106639 | + | G | A/G | single | missense | 12 | 1000GENOMES,APPLERA_GI,BGI,BL,COMPLETE_GENOMICS,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.258387 |
D2HGDH | chr2 | 242690728 | 242690729 | rs144668507 | + | C | C/T | single | missense | 5 | 1000GENOMES,EXOME_CHIP,ILLUMINA,NHLBI-ESP,TISHKOFF, | 2 | 0.976779 |
D2HGDH | chr2 | 242690744 | 242690745 | rs1105273 | + | C | C/T | single | missense | 11 | 1000GENOMES,APPLERA_GI,BUSHMAN,COMPLETE_GENOMICS,EXOME_CHIP,GMI,ILLUMINA,NHLBI-ESP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.817032 |
D2HGDH | chr2 | 242690769 | 242690770 | rs141343442 | + | T | C/T | single | coding-synon | 3 | 1000GENOMES,ILLUMINA,NHLBI-ESP, | 2 | 0.027265 |
D2HGDH | chr2 | 242691020 | 242691021 | rs4073694 | + | C | C/G | single | intron | 12 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,SC_JCM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.704212 |
D2HGDH | chr2 | 242691374 | 242691375 | rs149702186 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.099174 |
D2HGDH | chr2 | 242691375 | 242691376 | rs145456019 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.894399 |
D2HGDH | chr2 | 242691378 | 242691379 | rs112286696 | + | G | G/T | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.860550 |
D2HGDH | chr2 | 242691411 | 242691412 | rs4992236 | - | A | C/T | single | intron | 3 | 1000GENOMES,DEVINE_LAB,SSMP, | 2 | 0.104224 |
D2HGDH | chr2 | 242691412 | 242691413 | rs4992235 | - | T | A/G | single | intron | 4 | 1000GENOMES,DEVINE_LAB,ILLUMINA,SSMP, | 2 | 0.899908 |
D2HGDH | chr2 | 242691444 | 242691445 | rs4992234 | - | C | A/G | single | intron | 7 | 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,DEVINE_LAB,GMI,SSMP,TISHKOFF, | 2 | 0.087156 |
D2HGDH | chr2 | 242691463 | 242691464 | rs4632381 | - | A | C/T | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,DEVINE_LAB,ILLUMINA,SC_JCM,TISHKOFF, | 2 | 0.079358 |
D2HGDH | chr2 | 242691466 | 242691467 | rs4992233 | - | T | A/G | single | intron | 7 | 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DEVINE_LAB,GMI,SSMP,TISHKOFF, | 2 | 0.837156 |
D2HGDH | chr2 | 242691470 | 242691471 | rs4423633 | - | T | A/C | single | intron | 8 | 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,DEVINE_LAB,GMI,SC_JCM,SSMP,TISHKOFF, | 2 | 0.836239 |
D2HGDH | chr2 | 242691485 | 242691488 | rs201521606 | + | GCA | -/GCA | deletion | intron | 1 | 1000GENOMES, | 2 | 0.016070 |
D2HGDH | chr2 | 242691489 | 242691490 | rs149564794 | + | T | G/T | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.047750 |
D2HGDH | chr2 | 242691502 | 242691503 | rs145523218 | + | T | C/T | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.111570 |
D2HGDH | chr2 | 242691516 | 242691517 | rs142691737 | + | A | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.855372 |
D2HGDH | chr2 | 242691524 | 242691525 | rs145995177 | + | A | A/G | single | intron | 5 | 1000GENOMES,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.868687 |
D2HGDH | chr2 | 242691655 | 242691656 | rs79456314 | + | G | A/G | single | intron | 4 | 1000GENOMES,ENSEMBL,ILLUMINA,TISHKOFF, | 2 | 0.019725 |
D2HGDH | chr2 | 242691681 | 242691682 | rs4436996 | - | C | A/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,DEVINE_LAB,SC_JCM, | 2 | 0.059174 |
D2HGDH | chr2 | 242692073 | 242692074 | rs113499533 | + | T | C/T | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.126147 |
D2HGDH | chr2 | 242692375 | 242692376 | rs35359354 | + | C | C/T | single | intron | 9 | 1000GENOMES,ABI,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,PJP,SSMP,TISHKOFF, | 2 | 0.874885 |
D2HGDH | chr2 | 242692485 | 242692486 | rs4675880 | - | C | G/T | single | intron | 6 | 1000GENOMES,ABI,ILLUMINA,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.908173 |
D2HGDH | chr2 | 242692489 | 242692490 | rs35061832 | + | T | C/T | single | intron | 12 | 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,PJP,SSMP,TISHKOFF, | 2 | 0.361974 |
D2HGDH | chr2 | 242692547 | 242692548 | rs151072543 | + | A | A/T | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.988062 |
D2HGDH | chr2 | 242692587 | 242692588 | rs112058555 | + | C | C/T | single | intron | 6 | 1000GENOMES,BCM-HGSC-SUB,GMI,MPI_MOLGEN,SSMP,TISHKOFF, | 2 | 0.955005 |
D2HGDH | chr2 | 242692719 | 242692720 | rs142623301 | + | G | A/G | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.011019 |
D2HGDH | chr2 | 242692857 | 242692858 | rs6761047 | + | C | C/T | single | intron | 10 | 1000GENOMES,ABI,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,SSMP, | 2 | 0.775799 |
D2HGDH | chr2 | 242693112 | 242693113 | rs113361243 | + | G | C/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.029817 |
D2HGDH | chr2 | 242693212 | 242693213 | rs34663186 | + | G | A/G | single | intron | 7 | 1000GENOMES,ABI,BUSHMAN,ENSEMBL,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.092033 |
D2HGDH | chr2 | 242693323 | 242693324 | rs78350525 | + | G | A/G | single | intron | 7 | 1000GENOMES,BGI,BL,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.205316 |
D2HGDH | chr2 | 242693420 | 242693421 | rs77433658 | + | C | C/T | single | intron | 6 | 1000GENOMES,BGI,BL,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.792392 |
D2HGDH | chr2 | 242693513 | 242693514 | rs111734424 | + | T | C/T | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.127982 |
D2HGDH | chr2 | 242693571 | 242693572 | rs112697222 | + | G | A/G | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.123853 |
D2HGDH | chr2 | 242693594 | 242693595 | rs77062581 | + | T | A/T | single | intron | 7 | 1000GENOMES,BGI,BL,COMPLETE_GENOMICS,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.206233 |
D2HGDH | chr2 | 242693617 | 242693618 | rs112416222 | + | A | A/G | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.859239 |
D2HGDH | chr2 | 242693626 | 242693627 | rs146772599 | + | C | C/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.977961 |
D2HGDH | chr2 | 242693823 | 242693824 | rs34337830 | + | T | C/T | single | intron | 10 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.538884 |
D2HGDH | chr2 | 242693932 | 242693933 | rs148281334 | + | G | A/G | single | intron | 3 | 1000GENOMES,TISHKOFF,WARNICH_LAB, | 2 | 0.016070 |
D2HGDH | chr2 | 242694066 | 242694067 | rs111476809 | + | G | A/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,TISHKOFF, | 2 | 0.052752 |
D2HGDH | chr2 | 242694387 | 242694388 | rs112429441 | + | G | A/G | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.046789 |
D2HGDH | chr2 | 242694398 | 242694399 | rs112802682 | + | C | C/G | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.850459 |
D2HGDH | chr2 | 242694581 | 242694582 | rs148578716 | + | C | A/C | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.045914 |
D2HGDH | chr2 | 242694653 | 242694654 | rs192810648 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.984389 |
D2HGDH | chr2 | 242694896 | 242694897 | rs143691147 | + | G | G/T | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.957759 |
D2HGDH | chr2 | 242694914 | 242694915 | rs146828859 | + | A | A/G | single | intron | 3 | 1000GENOMES,TISHKOFF,WARNICH_LAB, | 2 | 0.987603 |
D2HGDH | chr2 | 242695137 | 242695138 | rs142211845 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.985308 |
D2HGDH | chr2 | 242695143 | 242695144 | rs145856086 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.983471 |
D2HGDH | chr2 | 242695150 | 242695151 | rs142763560 | + | T | A/T | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.027089 |
D2HGDH | chr2 | 242695226 | 242695227 | rs150709879 | + | A | A/G | single | intron | 2 | 1000GENOMES,NHLBI-ESP, | 2 | 0.989440 |
D2HGDH | chr2 | 242695496 | 242695497 | rs62192024 | + | T | C/T | single | intron | 9 | 1000GENOMES,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,PJP,SSMP,TISHKOFF, | 2 | 0.339571 |
D2HGDH | chr2 | 242695740 | 242695741 | rs111483024 | + | C | C/T | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.985780 |
D2HGDH | chr2 | 242695886 | 242695887 | rs142878050 | + | A | A/G | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.983012 |
D2HGDH | chr2 | 242695899 | 242695900 | rs6733823 | + | T | C/T | single | intron | 17 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF, | 3 | 0.671508 |
D2HGDH | chr2 | 242696328 | 242696329 | rs35350837 | + | A | A/G | single | intron | 14 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.354442 |
D2HGDH | chr2 | 242697105 | 242697106 | rs62192027 | + | T | C/T | single | intron | 7 | 1000GENOMES,BCMHGSC_JDW,BL,BUSHMAN,GMI,SSMP,TISHKOFF, | 2 | 0.119725 |
D2HGDH | chr2 | 242697188 | 242697189 | rs35715487 | + | A | A/G | single | intron | 14 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.472146 |
D2HGDH | chr2 | 242697266 | 242697267 | rs6751010 | + | G | A/G | single | intron | 10 | 1000GENOMES,ABI,BCM_SSAHASNP,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.218664 |
D2HGDH | chr2 | 242697889 | 242697889 | rs200033110 | + | - | -/C | insertion | intron | 3 | 1000GENOMES,BILGI_BIOE,SSMP, | 2 | 0.957300 |
D2HGDH | chr2 | 242697997 | 242697998 | rs4425108 | - | C | C/G | single | intron | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,DEVINE_LAB,ENSEMBL,GMI,PJP,SC_JCM,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.581769 |
D2HGDH | chr2 | 242698050 | 242698051 | rs6437287 | + | T | G/T | single | intron | 5 | 1000GENOMES,BCM_SSAHASNP,PJP,TISHKOFF,WI_SSAHASNP, | 2 | 0.094123 |
D2HGDH | chr2 | 242698166 | 242698167 | rs76180006 | + | C | A/C | single | intron | 8 | 1000GENOMES,BCM-HGSC-SUB,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SSMP,TISHKOFF, | 2 | 0.321134 |
D2HGDH | chr2 | 242698171 | 242698172 | rs140576009 | + | G | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.014233 |
D2HGDH | chr2 | 242698179 | 242698181 | rs201343466 | + | AT | -/AT | deletion | intron | 1 | 1000GENOMES, | 2 | 0.255739 |
D2HGDH | chr2 | 242698183 | 242698184 | rs7591060 | + | A | A/G | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,WI_SSAHASNP, | 2 | 0.721612 |
D2HGDH | chr2 | 242698278 | 242698279 | rs144527401 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.983012 |
D2HGDH | chr2 | 242698422 | 242698423 | rs6727713 | + | C | C/T | single | intron | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,PERLEGEN,PJP,SSMP,TISHKOFF, | 2 | 0.577507 |
D2HGDH | chr2 | 242698639 | 242698640 | rs34290285 | + | G | A/G | single | intron | 10 | 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,SSMP,TISHKOFF, | 2 | 0.237769 |
D2HGDH | chr2 | 242698684 | 242698685 | rs149026889 | + | G | G/T | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.936639 |
D2HGDH | chr2 | 242698803 | 242698804 | rs75445151 | + | C | C/T | single | intron | 4 | 1000GENOMES,BGI,GMI,SSMP, | 2 | 0.936639 |
D2HGDH | chr2 | 242699031 | 242699032 | rs111792955 | + | G | A/G | single | intron | 7 | 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,PJP,SSMP,TISHKOFF, | 2 | 0.181236 |
D2HGDH | chr2 | 242699289 | 242699290 | rs71430382 | + | C | C/T | single | intron | 9 | 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HUMANGENOME_JCVI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.549611 |
D2HGDH | chr2 | 242699392 | 242699393 | rs149381684 | + | G | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.018366 |
D2HGDH | chr2 | 242699480 | 242699480 | rs71228720 | + | - | -/CAAT | insertion | intron | 2 | 1000GENOMES,HUMANGENOME_JCVI, | 2 | 0.818349 |
D2HGDH | chr2 | 242699490 | 242699491 | rs62192032 | + | C | A/C | single | intron | 4 | 1000GENOMES,BCMHGSC_JDW,ENSEMBL,ILLUMINA, | 2 | 0.102294 |
D2HGDH | chr2 | 242699503 | 242699504 | rs62192033 | + | A | A/G | single | intron | 5 | 1000GENOMES,BCMHGSC_JDW,COMPLETE_GENOMICS,ENSEMBL,SSMP, | 2 | 0.574108 |
D2HGDH | chr2 | 242699605 | 242699609 | rs200006261 | + | CAAT | -/CAAT | deletion | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.106061 |
D2HGDH | chr2 | 242699631 | 242699632 | rs75401666 | + | C | C/T | single | intron | 1 | ENSEMBL, | 2 | 0.166667 |
D2HGDH | chr2 | 242699925 | 242699926 | rs145885614 | + | C | C/G | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.936639 |
D2HGDH | chr2 | 242700051 | 242700052 | rs71430384 | + | T | C/T | single | intron | 8 | 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,SSMP, | 2 | 0.609211 |
D2HGDH | chr2 | 242700102 | 242700103 | rs191903241 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.982094 |
D2HGDH | chr2 | 242700769 | 242700770 | rs35305862 | + | A | A/G | single | intron | 7 | 1000GENOMES,ABI,BL,BUSHMAN,GMI,SSMP,TISHKOFF, | 2 | 0.870642 |
D2HGDH | chr2 | 242700959 | 242700960 | rs71430385 | + | G | A/G | single | intron | 12 | 1000GENOMES,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.615314 |
D2HGDH | chr2 | 242701414 | 242701415 | rs34762429 | + | T | G/T | single | intron | 14 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.618439 |
D2HGDH | chr2 | 242701420 | 242701421 | rs143975382 | + | C | A/C | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.023416 |
D2HGDH | chr2 | 242701646 | 242701647 | rs2002092 | + | C | C/T | single | intron | 9 | 1000GENOMES,ABI,BL,ENSEMBL,GMI,SC_JCM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.870642 |
D2HGDH | chr2 | 242701771 | 242701772 | rs2002091 | + | A | A/G | single | intron | 8 | 1000GENOMES,ABI,BCM-HGSC-SUB,COMPLETE_GENOMICS,SC_JCM,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.902752 |
D2HGDH | chr2 | 242701813 | 242701814 | rs1106416 | + | C | C/T | single | intron | 8 | 1000GENOMES,ABI,BCM-HGSC-SUB,GMI,PERLEGEN,SC_JCM,SSMP,TSC-CSHL, | 2 | 0.962500 |
D2HGDH | chr2 | 242701864 | 242701865 | rs141793132 | + | G | A/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.010560 |
D2HGDH | chr2 | 242701988 | 242701989 | rs7569717 | + | C | C/T | single | intron | 12 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.678995 |
D2HGDH | chr2 | 242702012 | 242702013 | rs4538241 | - | C | A/G | single | intron | 16 | 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,DEVINE_LAB,ENSEMBL,GMI,HUMANGENOME_JCVI,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.441705 |
D2HGDH | chr2 | 242702342 | 242702343 | rs111543205 | + | G | A/G | single | intron | 6 | 1000GENOMES,BL,BUSHMAN,COMPLETE_GENOMICS,ILLUMINA,TISHKOFF, | 2 | 0.108009 |
D2HGDH | chr2 | 242702537 | 242702538 | rs4449174 | - | C | C/G | single | intron | 10 | 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,DEVINE_LAB,GMI,SC_JCM,SSMP,TISHKOFF, | 2 | 0.129358 |
D2HGDH | chr2 | 242702811 | 242702812 | rs62192037 | + | G | A/G | single | intron | 5 | 1000GENOMES,BCMHGSC_JDW,GMI,SSMP,TISHKOFF, | 2 | 0.129017 |
D2HGDH | chr2 | 242703182 | 242703183 | rs6740752 | + | A | A/G | single | intron | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,PJP,SSMP,TISHKOFF, | 2 | 0.378255 |
D2HGDH | chr2 | 242703316 | 242703317 | rs146871826 | + | C | C/T | single | intron | 4 | 1000GENOMES,BL,SSMP,TISHKOFF, | 2 | 0.873278 |
D2HGDH | chr2 | 242703362 | 242703363 | rs6754066 | + | G | A/G | single | intron | 6 | 1000GENOMES,BCM_SSAHASNP,BL,GMI,SSMP,TISHKOFF, | 2 | 0.134068 |
D2HGDH | chr2 | 242703388 | 242703389 | rs150219301 | + | C | C/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.982553 |
D2HGDH | chr2 | 242703429 | 242703430 | rs80116848 | + | C | C/T | single | intron | 4 | 1000GENOMES,BGI,GMI,SSMP, | 2 | 0.949036 |
D2HGDH | chr2 | 242703584 | 242703585 | rs4443030 | - | G | C/T | single | intron | 11 | 1000GENOMES,ABI,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,DEVINE_LAB,ENSEMBL,GMI,SC_JCM,SSMP, | 2 | 0.681153 |
D2HGDH | chr2 | 242703603 | 242703604 | rs182082950 | + | C | C/T | single | intron | 1 | 1000GENOMES, | 2 | 0.988981 |
D2HGDH | chr2 | 242703617 | 242703618 | rs5839764 | - | C | C/G | single | intron | 10 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,PJP,SSMP, | 2 | 0.456502 |
D2HGDH | chr2 | 242703645 | 242703646 | rs79706179 | + | T | C/T | single | intron | 6 | 1000GENOMES,BGI,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.099083 |
D2HGDH | chr2 | 242703936 | 242703937 | rs77984138 | + | G | A/G | single | intron | 6 | 1000GENOMES,BL,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.134986 |
D2HGDH | chr2 | 242704038 | 242704039 | rs35652684 | + | C | C/T | single | intron | 6 | 1000GENOMES,ABI,BGI,ENSEMBL,GMI,SSMP, | 2 | 0.954128 |
D2HGDH | chr2 | 242704060 | 242704061 | rs6747623 | + | T | C/T | single | intron | 14 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.620831 |
D2HGDH | chr2 | 242704193 | 242704194 | rs111806079 | + | G | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS, | 2 | 0.021082 |
D2HGDH | chr2 | 242704258 | 242704259 | rs112247677 | + | C | C/G | single | intron | 7 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,MPI_MOLGEN,SSMP,TISHKOFF, | 2 | 0.896884 |
D2HGDH | chr2 | 242704688 | 242704689 | rs150589057 | + | C | C/T | single | intron | 3 | 1000GENOMES,BL,TISHKOFF, | 2 | 0.922406 |
D2HGDH | chr2 | 242706919 | 242706920 | rs113988412 | + | C | C/G | single | intron | 5 | 1000GENOMES,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,SSMP, | 2 | 0.581118 |
D2HGDH | chr2 | 242706955 | 242706956 | rs6739113 | + | C | C/T | single | intron | 5 | 1000GENOMES,BCM_SSAHASNP,BL,GMI,SSMP, | 2 | 0.865014 |
D2HGDH | chr2 | 242706961 | 242706962 | rs71430386 | + | C | C/T | single | intron | 4 | 1000GENOMES,ENSEMBL,HUMANGENOME_JCVI,SSMP, | 2 | 0.792851 |
D2HGDH | chr2 | 242706987 | 242706988 | rs76180615 | + | C | C/T | single | intron | 5 | 1000GENOMES,ENSEMBL,ILLUMINA,MPI_MOLGEN,SSMP, | 2 | 0.794495 |
D2HGDH | chr2 | 242707100 | 242707101 | rs6756901 | + | A | A/G | single | intron | 13 | 1000GENOMES,ABI,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,NHLBI-ESP,PJP,SSMP, | 2 | 0.377737 |
D2HGDH | chr2 | 242707212 | 242707213 | rs111670322 | + | G | A/G | single | coding-synon | 3 | 1000GENOMES,BUSHMAN,NHLBI-ESP, | 2 | 0.031813 |
D2HGDH | chr2 | 242707476 | 242707477 | rs11552660 | + | T | C/T | single | untranslated-3 | 3 | 1000GENOMES,BL,CGAP-GAI, | 2 | 0.073003 |
D2HGDH | chr2 | 242707637 | 242707638 | rs6713318 | + | G | A/G | single | untranslated-3 | 4 | 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,SSMP, | 2 | 0.100917 |
D2HGDH | chr2 | 242707649 | 242707650 | rs145823152 | + | G | A/G | single | untranslated-3 | 2 | 1000GENOMES,SSMP, | 2 | 0.017447 |
D2HGDH | chr2 | 242707810 | 242707811 | rs142873084 | + | G | A/G | single | untranslated-3 | 1 | 1000GENOMES, | 2 | 0.010560 |
D2HGDH | chr2 | 242707832 | 242707833 | rs4234096 | - | C | A/G | single | untranslated-3 | 12 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,PJP,SC_JCM,SSMP,WI_SSAHASNP, | 2 | 0.520843 |
D2HGDH | chr2 | 242708044 | 242708045 | rs113372064 | + | C | C/T | single | untranslated-3 | 3 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA, | 2 | 0.954587 |
D2HGDH | chr2 | 242708071 | 242708072 | rs6716743 | + | G | A/G | single | untranslated-3 | 6 | 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.069266 |
D2HGDH | chr2 | 242708161 | 242708162 | rs6746151 | + | C | C/T | single | untranslated-3 | 12 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,ENSEMBL,GMI,ILLUMINA,PJP,SSMP,TISHKOFF, | 2 | 0.798165 |
D2HGDH | chr2 | 242708184 | 242708185 | rs35671465 | + | A | A/G | single | untranslated-3 | 12 | 1000GENOMES,ABI,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,ILLUMINA,PJP,SSMP,TISHKOFF, | 2 | 0.825172 |
DHCR | chr1 | 55315350 | 55315351 | rs657688 | - | T | A/G | single | untranslated-3 | 22 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.000000 |
DHCR | chr1 | 55315610 | 55315611 | rs7373 | + | C | C/G | single | untranslated-3 | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,CGAP-GAI,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,LEE,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 2 | 0.536782 |
DHCR | chr1 | 55315940 | 55315941 | rs11555500 | - | G | A/C | single | untranslated-3 | 4 | 1000GENOMES,CGAP-GAI,HGSV,ILLUMINA, | 2 | 0.015666 |
DHCR | chr1 | 55316081 | 55316082 | rs654561 | - | A | G/T | single | untranslated-3 | 21 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.988631 |
DHCR | chr1 | 55316228 | 55316229 | rs74496507 | + | A | A/G | single | untranslated-3 | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.985780 |
DHCR | chr1 | 55316321 | 55316322 | rs7374 | - | A | C/T | single | untranslated-3 | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,CGAP-GAI,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,LEE,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.458682 |
DHCR | chr1 | 55316417 | 55316418 | rs8990 | - | G | C/T | single | untranslated-3 | 7 | 1000GENOMES,CGAP-GAI,GMI,ILLUMINA,KRIBB_YJKIM,SSMP,TISHKOFF, | 2 | 0.936277 |
DHCR | chr1 | 55317117 | 55317118 | rs9436941 | + | T | C/T | single | untranslated-3 | 4 | 1000GENOMES,ILLUMINA,SC_SNP,TISHKOFF, | 2 | 0.027439 |
DHCR | chr1 | 55317443 | 55317444 | rs648804 | + | C | C/T | single | untranslated-3 | 6 | 1000GENOMES,ILLUMINA,KWOK,SC_JCM,SC_SNP,TISHKOFF, | 2 | 0.972561 |
DHCR | chr1 | 55317581 | 55317582 | rs74072036 | + | A | A/G | single | untranslated-3 | 7 | 1000GENOMES,BL,GMI,ILLUMINA,ILLUMINA-UK,SSMP,TISHKOFF, | 2 | 0.928899 |
DHCR | chr1 | 55317684 | 55317685 | rs1138030 | - | G | C/T | single | untranslated-3 | 18 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,CGAP-GAI,ENSEMBL,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,LEE,PJP,SC_SNP,SEQUENOM,SSMP,TISHKOFF,YUSUKE, | 2 | 0.757991 |
DHCR | chr1 | 55318107 | 55318108 | rs667222 | + | C | C/T | single | intron | 24 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,CSHL-HAPMAP,ENSEMBL,GMI,HGBASE,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,NHLBI-ESP,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 2 | 0.608950 |
DHCR | chr1 | 55318345 | 55318346 | rs644697 | + | T | C/T | single | intron | 23 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,YUSUKE, | 2 | 0.455333 |
DHCR | chr1 | 55318856 | 55318856 | rs11428724 | + | - | -/G | insertion | intron | 10 | 1000GENOMES,ABI,BILGI_BIOE,DEVINE_LAB,GMI,HGSV,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.595041 |
DHCR | chr1 | 55318861 | 55318862 | rs12409889 | + | G | G/T | single | intron | 4 | 1000GENOMES,ABI,CSHL-HAPMAP,ENSEMBL, | 2 | 0.984876 |
DHCR | chr1 | 55319007 | 55319008 | rs631749 | + | T | C/T | single | intron | 21 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.461303 |
DHCR | chr1 | 55319427 | 55319428 | rs79064185 | + | C | C/T | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.988991 |
DHCR | chr1 | 55319901 | 55319902 | rs718265 | + | A | A/G | single | coding-synon | 30 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,CGAP-GAI,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,EXOME_CHIP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,MGC_GENOME_DIFF,NHLBI-ESP,PJP,SC_SNP,SEATTLESEQ,SEQUENOM,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.362577 |
DHCR | chr1 | 55319935 | 55319936 | rs141309546 | + | A | -/A | deletion | intron | 7 | 1000GENOMES,BL,GMI,LUNTER,SSMP,TISHKOFF,WARNICH_LAB, | 2 | 0.142792 |
DHCR | chr1 | 55320560 | 55320561 | rs112359632 | + | C | C/T | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.988532 |
DHCR | chr1 | 55320793 | 55320794 | rs7527994 | + | A | A/G | single | intron | 17 | 1000GENOMES,ABI,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.400821 |
DHCR | chr1 | 55320868 | 55320869 | rs602811 | + | T | C/T | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HGSV,HUMANGENOME_JCVI,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.899406 |
DHCR | chr1 | 55320997 | 55320998 | rs113398911 | + | C | C/T | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.988532 |
DHCR | chr1 | 55321022 | 55321023 | rs10788990 | + | T | C/T | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.591967 |
DHCR | chr1 | 55321375 | 55321376 | rs115413257 | + | T | C/T | single | intron | 3 | 1000GENOMES,ILLUMINA,TISHKOFF, | 2 | 0.034843 |
DHCR | chr1 | 55321502 | 55321503 | rs2278191 | + | C | C/T | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KRIBB_YJKIM,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.452142 |
DHCR | chr1 | 55321550 | 55321551 | rs2278192 | + | G | A/G | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.594718 |
DHCR | chr1 | 55321682 | 55321683 | rs112157071 | + | G | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.011009 |
DHCR | chr1 | 55321784 | 55321785 | rs77555020 | + | G | C/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.017798 |
DHCR | chr1 | 55322235 | 55322236 | rs586108 | + | T | C/T | single | intron | 13 | 1000GENOMES,BCMHGSC_JDW,BL,ENSEMBL,GMI,HGSV,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.402383 |
DHCR | chr1 | 55322289 | 55322290 | rs74953488 | + | G | C/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.010092 |
DHCR | chr1 | 55322690 | 55322691 | rs3214534 | + | A | -/A | deletion | intron | 7 | 1000GENOMES,BILGI_BIOE,GMI,LUNTER,SSMP,TISHKOFF,YUSUKE, | 2 | 0.253444 |
DHCR | chr1 | 55322741 | 55322742 | rs13374503 | + | A | A/C | single | intron | 3 | 1000GENOMES,SSMP,WUGSC_SSAHASNP, | 2 | 0.986945 |
DHCR | chr1 | 55322867 | 55322868 | rs115721876 | + | G | A/G | single | intron | 3 | 1000GENOMES,ILLUMINA,SSMP, | 2 | 0.020888 |
DHCR | chr1 | 55323435 | 55323436 | rs71637874 | + | C | A/C | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,ENSEMBL,HUMANGENOME_JCVI,ILLUMINA, | 2 | 0.023352 |
DHCR | chr1 | 55323537 | 55323538 | rs112246846 | + | A | A/G | single | intron | 3 | 1000GENOMES,BUSHMAN,TISHKOFF, | 2 | 0.984404 |
DHCR | chr1 | 55323808 | 55323809 | rs12117617 | + | G | A/G | single | intron | 6 | 1000GENOMES,BGI,GMI,SC_SNP,SSMP,TISHKOFF, | 2 | 0.066998 |
DHCR | chr1 | 55323837 | 55323838 | rs6676774 | + | G | A/G | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.437813 |
DHCR | chr1 | 55324123 | 55324124 | rs115251523 | + | C | C/G | single | intron | 2 | 1000GENOMES,TISHKOFF, | 2 | 0.987805 |
DHCR | chr1 | 55324149 | 55324150 | rs12133305 | + | C | C/T | single | intron | 8 | 1000GENOMES,AFFY,BL,COMPLETE_GENOMICS,GMI,KRIBB_YJKIM,SC_SNP,SSMP, | 2 | 0.917828 |
DHCR | chr1 | 55324371 | 55324372 | rs2288314 | + | G | A/G | single | intron | 7 | 1000GENOMES,COMPLETE_GENOMICS,GMI,HGSV,SSMP,TISHKOFF,YUSUKE, | 2 | 0.124084 |
DHCR | chr1 | 55324868 | 55324869 | rs13373956 | + | G | G/T | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,SSMP,TISHKOFF,WUGSC_SSAHASNP, | 2 | 0.947022 |
DHCR | chr1 | 55324872 | 55324873 | rs2288315 | + | G | C/G | single | intron | 21 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.931660 |
DHCR | chr1 | 55324964 | 55324966 | rs139707914 | + | GA | -/GA | deletion | intron | 3 | 1000GENOMES,LUNTER,SSMP, | 2 | 0.062443 |
DHCR | chr1 | 55325240 | 55325241 | rs12562548 | + | G | G/T | single | intron | 6 | 1000GENOMES,CSHL-HAPMAP,ENSEMBL,GMI,SSAHASNP,SSMP, | 2 | 0.974312 |
DHCR | chr1 | 55325308 | 55325309 | rs12067125 | + | T | G/T | single | intron | 6 | 1000GENOMES,BL,COMPLETE_GENOMICS,GMI,SC_SNP,SSMP, | 2 | 0.082569 |
DHCR | chr1 | 55325487 | 55325488 | rs57777659 | + | T | C/T | single | intron | 10 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,SSMP,TISHKOFF, | 2 | 0.302060 |
DHCR | chr1 | 55325793 | 55325794 | rs11206455 | + | T | C/T | single | intron | 20 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KRIBB_YJKIM,PERLEGEN,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.339248 |
DHCR | chr1 | 55325863 | 55325864 | rs113419309 | + | C | A/C | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA, | 2 | 0.014679 |
DHCR | chr1 | 55326074 | 55326075 | rs78842553 | + | A | A/G | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA, | 2 | 0.969266 |
DHCR | chr1 | 55326139 | 55326140 | rs6588533 | + | C | C/G | single | intron | 13 | 1000GENOMES,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.571648 |
DHCR | chr1 | 55326344 | 55326345 | rs4927168 | + | A | A/C | single | intron | 23 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.216525 |
DHCR | chr1 | 55326410 | 55326411 | rs113543107 | + | C | C/G | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.987615 |
DHCR | chr1 | 55326424 | 55326425 | rs4927169 | + | G | C/G | single | intron | 10 | 1000GENOMES,BGI,BL,CSHL-HAPMAP,ENSEMBL,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,WI_SSAHASNP, | 2 | 0.428311 |
DHCR | chr1 | 55326425 | 55326426 | rs4927170 | + | G | A/G | single | intron | 15 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.778134 |
DHCR | chr1 | 55326465 | 55326466 | rs146621180 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.022957 |
DHCR | chr1 | 55326485 | 55326486 | rs4927171 | + | G | A/G | single | intron | 14 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.450775 |
DHCR | chr1 | 55326519 | 55326520 | rs111510955 | + | G | A/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.039908 |
DHCR | chr1 | 55326585 | 55326586 | rs10888882 | + | G | A/G | single | intron | 12 | 1000GENOMES,ABI,BCM-HGSC-SUB,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,HUMANGENOME_JCVI,PJP,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.351869 |
DHCR | chr1 | 55326719 | 55326720 | rs6675891 | + | A | A/G | single | intron | 15 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,PJP,SSMP,TISHKOFF, | 2 | 0.630306 |
DHCR | chr1 | 55326932 | 55326933 | rs6676123 | + | A | A/G | single | intron | 18 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,PJP,SSMP,TISHKOFF, | 2 | 0.639443 |
DHCR | chr1 | 55327143 | 55327144 | rs78647471 | + | C | C/G | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.934404 |
DHCR | chr1 | 55327366 | 55327367 | rs72673883 | + | C | A/C | single | intron | 5 | 1000GENOMES,GMI,ILLUMINA,SSMP,TISHKOFF, | 2 | 0.068238 |
DHCR | chr1 | 55327401 | 55327402 | rs602671 | + | A | A/C | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF, | 2 | 0.403381 |
DHCR | chr1 | 55327491 | 55327492 | rs6666716 | + | C | C/T | single | intron | 18 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF, | 2 | 0.450642 |
DHCR | chr1 | 55327549 | 55327550 | rs72901600 | + | A | A/G | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.988991 |
DHCR | chr1 | 55327554 | 55327555 | rs74606125 | + | C | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.988676 |
DHCR | chr1 | 55327588 | 55327589 | rs72903503 | + | C | C/T | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.879579 |
DHCR | chr1 | 55327872 | 55327876 | rs111480286 | + | ACAG | -/ACAG | deletion | intron | 5 | 1000GENOMES,BUSHMAN,GMI,LUNTER,SSMP, | 2 | 0.120183 |
DHCR | chr1 | 55327939 | 55327940 | rs12025718 | + | T | C/T | single | intron | 12 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BUSHMAN,COMPLETE_GENOMICS,GMI,KRIBB_YJKIM,PJP,SC_SNP,SSMP,TISHKOFF, | 2 | 0.289531 |
DHCR | chr1 | 55328054 | 55328055 | rs34292018 | + | A | A/G | single | intron | 7 | 1000GENOMES,ABI,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.945055 |
DHCR | chr1 | 55328101 | 55328102 | rs675252 | + | T | C/T | single | intron | 21 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.489517 |
DHCR | chr1 | 55328147 | 55328148 | rs675320 | + | T | C/T | single | intron | 8 | 1000GENOMES,ABI,GMI,KWOK,SC_JCM,SC_SNP,SSMP,TSC-CSHL, | 2 | 0.042406 |
DHCR | chr1 | 55328150 | 55328151 | rs79460737 | + | C | C/T | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.880037 |
DHCR | chr1 | 55328256 | 55328257 | rs72903506 | + | T | A/T | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.053114 |
DHCR | chr1 | 55328564 | 55328565 | rs113518014 | + | T | C/T | single | intron | 5 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.048579 |
DHCR | chr1 | 55328566 | 55328567 | rs187282498 | + | G | C/G | single | intron | 1 | 1000GENOMES, | 2 | 0.018825 |
DHCR | chr1 | 55328603 | 55328604 | rs7524913 | + | C | C/T | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.883135 |
DHCR | chr1 | 55328625 | 55328626 | rs7536507 | + | A | A/G | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.878552 |
DHCR | chr1 | 55328682 | 55328683 | rs148472031 | + | A | A/C | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.974747 |
DHCR | chr1 | 55329104 | 55329105 | rs582222 | + | T | C/T | single | intron | 21 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.613947 |
DHCR | chr1 | 55329106 | 55329107 | rs11206456 | + | C | C/T | single | intron | 4 | 1000GENOMES,BL,GMI,SC_SNP, | 2 | 0.916391 |
DHCR | chr1 | 55329500 | 55329501 | rs4927173 | + | C | C/T | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,PJP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.043676 |
DHCR | chr1 | 55329518 | 55329519 | rs72903513 | + | C | C/T | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.880495 |
DHCR | chr1 | 55329731 | 55329732 | rs72903516 | + | G | G/T | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.897342 |
DHCR | chr1 | 55330141 | 55330142 | rs114819441 | + | C | C/G | single | intron | 1 | 1000GENOMES, | 2 | 0.985640 |
DHCR | chr1 | 55330337 | 55330338 | rs149084152 | + | A | -/A | deletion | intron | 4 | 1000GENOMES,LUNTER,SSMP,TISHKOFF, | 2 | 0.065657 |
DHCR | chr1 | 55330549 | 55330550 | rs72903518 | + | G | C/G | single | intron | 6 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF, | 2 | 0.055352 |
DHCR | chr1 | 55330629 | 55330630 | rs17111142 | + | C | C/G | single | intron | 8 | 1000GENOMES,AFFY,COMPLETE_GENOMICS,ILLUMINA,KRIBB_YJKIM,PERLEGEN,SSMP,TISHKOFF, | 2 | 0.920440 |
DHCR | chr1 | 55330705 | 55330706 | rs74774143 | + | C | C/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.933945 |
DHCR | chr1 | 55330755 | 55330756 | rs2303533 | + | G | C/G | single | intron | 23 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KRIBB_YJKIM,PERLEGEN,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP,YUSUKE, | 3 | 0.356728 |
DHCR | chr1 | 55330965 | 55330966 | rs611057 | + | T | C/T | single | intron | 28 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,NHLBI-ESP,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.986088 |
DHCR | chr1 | 55331640 | 55331641 | rs80336900 | + | G | A/G | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.043951 |
DHCR | chr1 | 55332002 | 55332003 | rs6677915 | + | T | C/T | single | intron | 7 | 1000GENOMES,BCM_SSAHASNP,BL,COMPLETE_GENOMICS,GMI,ILLUMINA,SSMP, | 2 | 0.082110 |
DHCR | chr1 | 55332084 | 55332085 | rs116871890 | + | G | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.040905 |
DHCR | chr1 | 55332342 | 55332343 | rs11366405 | + | C | -/C | deletion | intron | 10 | 1000GENOMES,ABI,BL,DEVINE_LAB,GMI,HUMANGENOME_JCVI,LUNTER,PJP,SSMP,TISHKOFF, | 2 | 0.364679 |
DHCR | chr1 | 55332455 | 55332456 | rs74502762 | + | G | A/G | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.028746 |
DHCR | chr1 | 55332471 | 55332471 | rs200224855 | + | - | -/T | insertion | intron | 1 | 1000GENOMES, | 2 | 0.988062 |
DHCR | chr1 | 55332535 | 55332536 | rs628508 | + | C | C/G | single | intron | 23 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.070941 |
DHCR | chr1 | 55332773 | 55332774 | rs640011 | + | T | C/T | single | intron | 22 | 1000GENOMES,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 1.000000 |
DHCR | chr1 | 55332799 | 55332800 | rs640036 | + | G | C/G | single | intron | 6 | 1000GENOMES,ABI,KWOK,SC_JCM,SC_SNP,TSC-CSHL, | 2 | 0.017422 |
DHCR | chr1 | 55332906 | 55332907 | rs78167420 | + | G | G/T | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.968807 |
DHCR | chr1 | 55333134 | 55333135 | rs2059690 | + | G | G/T | single | intron | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,PJP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP,YUSUKE, | 2 | 0.485441 |
DHCR | chr1 | 55333212 | 55333213 | rs12129816 | + | A | A/G | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,GMI,SC_SNP,SSMP,TISHKOFF, | 2 | 0.911927 |
DHCR | chr1 | 55333452 | 55333453 | rs642737 | + | A | A/G | single | intron | 22 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.436316 |
DHCR | chr1 | 55333524 | 55333525 | rs600491 | + | C | C/T | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,ILLUMINA,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.633751 |
DHCR | chr1 | 55333599 | 55333600 | rs2278193 | + | G | A/G | single | intron | 16 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.364840 |
DHCR | chr1 | 55333617 | 55333618 | rs10449751 | + | C | C/T | single | intron | 4 | 1000GENOMES,GMI,SC_SNP,SSMP, | 2 | 0.957781 |
DHCR | chr1 | 55333783 | 55333784 | rs2278194 | + | T | C/T | single | intron | 5 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF,YUSUKE, | 2 | 0.058716 |
DHCR | chr1 | 55333864 | 55333865 | rs12137364 | + | C | C/T | single | intron | 8 | 1000GENOMES,BL,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA,SC_SNP,SSMP, | 2 | 0.918040 |
DHCR | chr1 | 55333939 | 55333940 | rs612551 | + | G | A/G | single | intron | 4 | 1000GENOMES,KWOK,SC_JCM,SC_SNP, | 2 | 0.015151 |
DHCR | chr1 | 55333998 | 55333999 | rs112673016 | + | C | C/T | single | intron | 2 | 1000GENOMES,COMPLETE_GENOMICS, | 2 | 0.987615 |
DHCR | chr1 | 55334000 | 55334001 | rs190934192 | + | G | A/G | single | intron | 1 | 1000GENOMES, | 2 | 0.015151 |
DHCR | chr1 | 55334099 | 55334100 | rs182848559 | + | G | A/G | single | intron | 2 | 1000GENOMES,SSMP, | 2 | 0.016070 |
DHCR | chr1 | 55334213 | 55334214 | rs2288316 | + | A | A/C | single | intron | 7 | 1000GENOMES,BUSHMAN,COMPLETE_GENOMICS,GMI,SSMP,TISHKOFF,YUSUKE, | 2 | 0.953712 |
DHCR | chr1 | 55334344 | 55334345 | rs6695847 | + | G | A/G | single | intron | 8 | 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,GMI,ILLUMINA,ILLUMINA-UK,SC_SNP,SSMP, | 2 | 0.445971 |
DHCR | chr1 | 55334348 | 55334349 | rs6687489 | + | T | C/T | single | intron | 7 | 1000GENOMES,BCM_SSAHASNP,COMPLETE_GENOMICS,GMI,ILLUMINA-UK,SC_SNP,SSMP, | 2 | 0.441392 |
DHCR | chr1 | 55334382 | 55334383 | rs142241349 | + | G | -/G | deletion | intron | 2 | 1000GENOMES,BILGI_BIOE, | 2 | 0.379706 |
DHCR | chr1 | 55334388 | 55334389 | rs1180860 | + | T | C/T | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,GMI,HGSV,KWOK,WI_SSAHASNP, | 2 | 0.423993 |
DHCR | chr1 | 55334567 | 55334568 | rs615203 | + | C | C/T | single | intron | 7 | 1000GENOMES,GMI,KWOK,SC_JCM,SC_SNP,SSMP,TISHKOFF, | 2 | 0.956382 |
DHCR | chr1 | 55334694 | 55334695 | rs626079 | + | G | A/G | single | intron | 20 | 1000GENOMES,ABI,BCMHGSC_JDW,BCM_SSAHASNP,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.552920 |
DHCR | chr1 | 55334797 | 55334801 | rs140670122 | + | ACAA | -/ACAA | deletion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.011019 |
DHCR | chr1 | 55334890 | 55334891 | rs2288318 | + | C | A/C | single | intron | 4 | 1000GENOMES,GMI,SSMP,YUSUKE, | 2 | 0.042219 |
DHCR | chr1 | 55335301 | 55335302 | rs671701 | + | T | C/T | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,GMI,HGSV,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.466210 |
DHCR | chr1 | 55335708 | 55335709 | rs673541 | + | G | A/G | single | intron | 17 | 1000GENOMES,ABI,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP, | 2 | 0.555100 |
DHCR | chr1 | 55335742 | 55335743 | rs113387019 | + | T | A/T | single | intron | 3 | 1000GENOMES,BUSHMAN,GMI, | 2 | 0.059633 |
DHCR | chr1 | 55335742 | 55335743 | rs201857004 | + | T | -/T | deletion | intron | 1 | 1000GENOMES, | 2 | 0.050964 |
DHCR | chr1 | 55335766 | 55335767 | rs111257553 | + | C | C/T | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.927523 |
DHCR | chr1 | 55336096 | 55336097 | rs11206457 | + | T | A/T | single | intron | 16 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KRIBB_YJKIM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.340523 |
DHCR | chr1 | 55336166 | 55336167 | rs685920 | + | A | A/G | single | intron | 17 | 1000GENOMES,ABI,BCM-HGSC-SUB,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KWOK,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.604353 |
DHCR | chr1 | 55336388 | 55336389 | rs687146 | + | A | A/G | single | intron | 16 | 1000GENOMES,ABI,BCM-HGSC-SUB,BGI,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KWOK,SC_JCM,SSMP,TISHKOFF, | 2 | 0.583029 |
DHCR | chr1 | 55336949 | 55336950 | rs608458 | + | C | C/G | single | intron | 21 | 1000GENOMES,AFFY,BCM-HGSC-SUB,BCM_SSAHASNP,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.460327 |
DHCR | chr1 | 55337314 | 55337315 | rs2303534 | + | C | C/G | single | intron | 13 | 1000GENOMES,AFFY,BCM_SSAHASNP,BUSHMAN,CLINSEQ_SNP,COMPLETE_GENOMICS,GMI,ILLUMINA,KRIBB_YJKIM,NHLBI-ESP,SSMP,TISHKOFF,YUSUKE, | 2 | 0.956835 |
DHCR | chr1 | 55337379 | 55337380 | rs2303535 | + | A | A/G | single | intron | 10 | 1000GENOMES,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,GMI,ILLUMINA,KRIBB_YJKIM,SSMP,TISHKOFF,YUSUKE, | 2 | 0.932611 |
DHCR | chr1 | 55337445 | 55337446 | rs12119804 | + | T | C/T | single | intron | 7 | 1000GENOMES,BL,COMPLETE_GENOMICS,GMI,SC_SNP,SSMP,TISHKOFF, | 2 | 0.091743 |
DHCR | chr1 | 55337806 | 55337813 | rs140292451 | + | ACAAGTA | -/ACAAGTA | deletion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.019743 |
DHCR | chr1 | 55337815 | 55337816 | rs1002778 | + | G | A/G/T | single | intron | 6 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.942202 |
DHCR | chr1 | 55337884 | 55337885 | rs57782388 | + | A | A/G | single | intron | 5 | 1000GENOMES,BUSHMAN,HGSV,ILLUMINA-UK,SSMP, | 2 | 0.957837 |
DHCR | chr1 | 55338237 | 55338238 | rs57697055 | + | C | C/T | single | intron | 4 | 1000GENOMES,GMI,HGSV,SSMP, | 2 | 0.950392 |
DHCR | chr1 | 55338415 | 55338416 | rs149796574 | + | C | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.987144 |
DHCR | chr1 | 55338678 | 55338679 | rs7551288 | + | A | A/G | single | intron | 18 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.653407 |
DHCR | chr1 | 55338960 | 55338963 | rs147168531 | + | AAC | -/AAC | deletion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.011019 |
DHCR | chr1 | 55338963 | 55338964 | rs76716074 | + | A | A/G | single | intron | 5 | 1000GENOMES,BGI,GMI,ILLUMINA,SSMP, | 2 | 0.947199 |
DHCR | chr1 | 55339085 | 55339086 | rs6686859 | + | C | C/T | single | intron | 16 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PJP,SSMP,TISHKOFF, | 2 | 0.710600 |
DHCR | chr1 | 55339132 | 55339133 | rs113793661 | + | A | A/C | single | intron | 4 | 1000GENOMES,BUSHMAN,GMI,SSMP, | 2 | 0.961927 |
DHCR | chr1 | 55339271 | 55339272 | rs35786633 | + | C | C/T | single | intron | 13 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,PJP,SSMP,TISHKOFF, | 2 | 0.700687 |
DHCR | chr1 | 55339352 | 55339353 | rs639731 | + | T | C/T | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.912489 |
DHCR | chr1 | 55339383 | 55339384 | rs112000395 | + | G | A/G | single | intron | 4 | 1000GENOMES,COMPLETE_GENOMICS,SSMP,TISHKOFF, | 2 | 0.078899 |
DHCR | chr1 | 55339437 | 55339438 | rs597021 | + | G | G/T | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.396347 |
DHCR | chr1 | 55339760 | 55339761 | rs75116054 | + | G | C/T | single | intron | 2 | ENSEMBL,GMI, | 2 | 0.200000 |
DHCR | chr1 | 55340182 | 55340183 | rs113493911 | + | T | G/T | single | intron | 4 | 1000GENOMES,BUSHMAN,GMI,SSMP, | 2 | 0.038073 |
DHCR | chr1 | 55340373 | 55340374 | rs79022190 | + | T | A/T | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.043081 |
DHCR | chr1 | 55340380 | 55340381 | rs77830691 | + | C | C/T | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.989121 |
DHCR | chr1 | 55340955 | 55340956 | rs2075389 | + | G | C/G | single | intron | 5 | 1000GENOMES,GMI,HGBASE,SSMP,YUSUKE, | 2 | 0.095214 |
DHCR | chr1 | 55341105 | 55341106 | rs2075390 | + | C | C/T | single | intron | 20 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,ENSEMBL,GMI,HGBASE,HUMANGENOME_JCVI,ILLUMINA,KRIBB_YJKIM,PERLEGEN,PJP,SI_EXO,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.646154 |
DHCR | chr1 | 55341291 | 55341292 | rs143402560 | + | G | A/G | single | intron | 2 | 1000GENOMES,ILLUMINA, | 2 | 0.012397 |
DHCR | chr1 | 55341350 | 55341351 | rs626452 | + | G | G/T | single | intron | 24 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BCM_SSAHASNP,BGI,BL,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,WI_SSAHASNP,YUSUKE, | 2 | 0.398723 |
DHCR | chr1 | 55341392 | 55341393 | rs2075391 | + | A | A/T | single | intron | 5 | 1000GENOMES,GMI,SSMP,TISHKOFF,YUSUKE, | 2 | 0.905694 |
DHCR | chr1 | 55341518 | 55341519 | rs2075392 | + | C | C/T | single | intron | 5 | 1000GENOMES,ILLUMINA,SSMP,TISHKOFF,YUSUKE, | 2 | 0.909656 |
DHCR | chr1 | 55341914 | 55341915 | rs638944 | + | T | G/T | single | intron | 22 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PERLEGEN,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF, | 2 | 0.459113 |
DHCR | chr1 | 55341976 | 55341977 | rs72673901 | + | C | C/G | single | intron | 3 | 1000GENOMES,GMI,SSMP, | 2 | 0.983029 |
DHCR | chr1 | 55342051 | 55342052 | rs639796 | + | C | C/T | single | intron | 19 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF, | 2 | 0.478995 |
DHCR | chr1 | 55342485 | 55342486 | rs685004 | + | T | C/T | single | intron | 18 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KWOK,PJP,SC_JCM,SSMP,TISHKOFF,WI_SSAHASNP, | 2 | 0.421005 |
DHCR | chr1 | 55342787 | 55342788 | rs12125177 | + | T | A/T | single | intron | 5 | 1000GENOMES,GMI,PJP,SC_SNP,SSMP, | 2 | 0.070061 |
DHCR | chr1 | 55342794 | 55342795 | rs588743 | + | A | A/G | single | intron | 10 | 1000GENOMES,AFFY,GMI,KRIBB_YJKIM,KWOK,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL, | 2 | 0.952538 |
DHCR | chr1 | 55342928 | 55342929 | rs589244 | + | T | A/T | single | intron | 21 | 1000GENOMES,ABI,AFFY,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,COMPLETE_GENOMICS,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA-UK,KRIBB_YJKIM,KWOK,PJP,SC_JCM,SC_SNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.488023 |
DHCR | chr1 | 55343036 | 55343042 | rs141082565 | + | ACTTCT | -/ACTTCT | deletion | intron | 2 | 1000GENOMES,LUNTER, | 2 | 0.072085 |
DHCR | chr1 | 55343114 | 55343115 | rs79801423 | + | T | G/T | single | intron | 3 | 1000GENOMES,COMPLETE_GENOMICS,ILLUMINA, | 2 | 0.045872 |
DHCR | chr1 | 55343121 | 55343122 | rs116711878 | + | A | A/C | single | intron | 3 | 1000GENOMES,ILLUMINA,SSMP, | 2 | 0.988251 |
DHCR | chr1 | 55343206 | 55343207 | rs655115 | + | C | C/T | single | intron | 24 | 1000GENOMES,ABI,BCM-HGSC-SUB,BCMHGSC_JDW,BGI,BL,BUSHMAN,COMPLETE_GENOMICS,CSHL-HAPMAP,ENSEMBL,GMI,HGSV,HUMANGENOME_JCVI,ILLUMINA,ILLUMINA-UK,KWOK,PJP,SC_JCM,SC_SNP,SSAHASNP,SSMP,TISHKOFF,TSC-CSHL,WI_SSAHASNP, | 2 | 0.173418 |