view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(1865): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 16 | 0.0625 | 1872 | c.164 others(1891): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137323377 | A | ACCCACGA others(1865): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0028 | a0028c0023 | a0028c0023t0001 | a0028c0023t0001g0004 | 1 | 76 | 0.0132 | 1872 | c.218 others(1889): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 19/21 | chr9 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCTTCT others(1865): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0021 | a0021c0012 | a0021c0012t0001 | a0021c0012t0001g0036 | 1 | 126 | 0.0079 | 1872 | c.193 others(1891): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1865): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 3 | 0.3333 | 1872 | c.340 others(1889): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MED16_chr19_862963_898187 | 871889 | A | AGAGGGGA others(1865): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0007 | a0007c0009 | a0007c0009t0007 | a0007c0009t0007g0027 | 1 | 47 | 0.0213 | 1872 | c.209 others(1887): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79494279 | C | CGCCGGGG others(1865): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0018 | a0001c0018t0053 | a0001c0018t0053g0059 | 1 | 146 | 0.0068 | 1872 | c.278 others(1891): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1865): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 8 | 0.1250 | 1872 | c.-20 others(1883): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1865): Show |
upstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 1872 | c.-20 others(1883): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1865): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 8 | 0.1250 | 1872 | c.-20 others(1883): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1865): Show |
upstream_gene_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 1872 | c.-20 others(1883): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1865): Show |
upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 1872 | c.-20 others(1883): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1865): Show |
upstream_gene_variant | MODIFIER | NA18950.hp1 NA18980.hp1 NA19065.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0003g0002 |
4 | 11 | 0.3636 | 1872 | c.-20 others(1883): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1865): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG01255.hp1 HG01261.hp2 others(52): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0003g0002 others(3): Show |
55 | 62 | 0.8871 | 1872 | c.-20 others(1883): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1865): Show |
upstream_gene_variant | MODIFIER | NA18998.hp2 | a0008 | a0008c0011 | a0008c0011t0003 | a0008c0011t0003g0045 | 1 | 8 | 0.1250 | 1872 | c.-20 others(1883): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1865): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 8 | 0.1250 | 1872 | c.-20 others(1883): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1865): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01981.hp2 |
a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0005 | 2 | 9 | 0.2222 | 1872 | c.-20 others(1883): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 458579 | C | CCACAGGG others(1865): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0005 | a0005c0010 | a0005c0010t0005 | a0005c0010t0005g0083 | 1 | 230 | 0.0043 | 1872 | c.715 others(1889): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(1865): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0110 | 1 | 207 | 0.0048 | 1872 | c.715 others(1889): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744428 | C | CACAGCCC others(1865): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0091 | a0001c0091t0016 | a0001c0091t0016g0166 | 1 | 178 | 0.0056 | 1872 | c.655 others(1889): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(1865): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01099.hp2 others(8): Show |
a0001 | a0001c0010a0001c0019a0001c0035others(5): Show | a0001c0010t0009a0001c0010t0056a0001c0010t0095others(8): Show | a0001c0010t0009g0057 a0001c0010t0056g0187 a0001c0010t0095g0053 others(8): Show |
11 | 14 | 0.7857 | 1872 | c.291 others(1891): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289447 | T | CCCGTCCC others(1865): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0045 | 1 | 239 | 0.0042 | 1872 | c.166 others(1889): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | chr1 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431922 | T | TAGGGTGG others(1865): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0237 | 1 | 327 | 0.0031 | 1872 | c.101 others(1891): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246071783 | G | GTAGTTCT others(1865): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 130 | 0.0077 | 1872 | c.532 others(1893): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50028908 | C | CCCCCATC others(1865): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0022 | a0022c0027 | a0022c0027t0001 | a0022c0027t0001g0137 | 1 | 208 | 0.0048 | 1872 | c.225 others(1891): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
ZDHHC20_chr13_21367571_21464303 | 21377276 | T | TGCCCGAC others(1865): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0056 | 1 | 300 | 0.0033 | 1872 | c.*41 others(1887): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | |||||||
C1orf127_chr1_10941475_10987076 | 10971075 | A | AGAGGCAG others(1866): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0067 | 1 | 89 | 0.0112 | 1873 | c.128 others(1888): Show |
C1orf127 | ENSG00000175262.15 | transcript | ENST00000377004.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
CCDC6_chr10_59783747_59911556 | 59882384 | G | GGGGAGAA others(1866): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0006 | 1 | 221 | 0.0045 | 1873 | c.303 others(1892): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173086 | T | TCTCTCCC others(1866): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0013 | a0001c0013t0034 | a0001c0013t0034g0005 | 1 | 17 | 0.0588 | 1873 | c.*11 others(1894): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1866): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 3 | 0.3333 | 1873 | c.340 others(1890): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1866): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 3 | 0.3333 | 1873 | c.340 others(1890): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1866): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 3 | 0.3333 | 1873 | c.340 others(1890): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1866): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 3 | 0.3333 | 1873 | c.340 others(1890): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1866): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 3 | 0.3333 | 1873 | c.340 others(1890): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1866): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 3 | 0.3333 | 1873 | c.340 others(1890): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1866): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 3 | 0.3333 | 1873 | c.340 others(1890): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1866): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0014 | a0014c0012 | a0014c0012t0002 | a0014c0012t0002g0212 | 1 | 32 | 0.0313 | 1873 | c.218 others(1888): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
OSCP1_chr1_36412906_36455451 | 36431635 | T | TAAAAACT others(1866): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242 | 1 | 378 | 0.0026 | 1873 | c.516 others(1888): Show |
OSCP1 | ENSG00000116885.18 | transcript | ENST00000235532.9 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811273 | C | CCTTCCTT others(1866): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0151 | 1 | 166 | 0.0060 | 1873 | c.773 others(1888): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PIFO_chr1_111341622_111358013 | 111353551 | T | TAAAAGAA others(1866): Show |
downstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 210 | 0.0048 | 1873 | c.*22 others(1884): Show |
PIFO | ENSG00000173947.14 | transcript | ENST00000369738.9 | protein_coding | 539 | chr1 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1866): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 28 | 0.0357 | 1873 | c.-50 others(1884): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377475 | C | CCCCACCC others(1866): Show |
upstream_gene_variant | MODIFIER | NA18990.hp2 | a0013 | a0013c0024 | a0013c0024t0040 | a0013c0024t0040g0318 | 1 | 330 | 0.0030 | 1873 | c.-15 others(1884): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1450 | chr19 | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241675133 | T | TCCCTCCC others(1866): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0208 | 1 | 312 | 0.0032 | 1873 | c.483 others(1888): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876163 | C | CTTCCCCC others(1866): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 234 | 0.0043 | 1873 | c.-10 others(1890): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1867): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 3 | 0.3333 | 1874 | c.340 others(1891): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1867): Show |
intron_variant | MODIFIER | HG01516.hp2 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 a0001c0001t0001g0075 |
2 | 4 | 0.5000 | 1874 | c.340 others(1891): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1867): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 3 | 0.3333 | 1874 | c.340 others(1891): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NXN_chr17_794310_984776 | 949185 | G | GGCCTCCT others(1867): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 96 | 0.0104 | 1874 | c.360 others(1893): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1867): Show |
upstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 8 | 0.1250 | 1874 | c.-20 others(1885): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1867): Show |
upstream_gene_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0029 | 1 | 8 | 0.1250 | 1874 | c.-20 others(1885): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(1867): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0085 | 1 | 7 | 0.1429 | 1874 | c.279 others(1891): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar |