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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VEGFB_chr11_64229584_64244264 | 64237121 | G | GGGAGAGG others(897): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 296 | 0.0034 | 904 | c.375 others(917): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
ADAMTS3_chr4_72275969_72574221 | 72456246 | A | ATATAGTA others(898): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0107 | 1 | 86 | 0.0116 | 905 | c.505 others(924): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 3/21 | chr4 | TogoVar | |||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(898): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 3 | 0.3333 | 905 | c.267 others(924): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(898): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0020 | 1 | 3 | 0.3333 | 905 | c.267 others(924): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(898): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(173): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0006 others(169): Show |
176 | 178 | 0.9888 | 905 | c.267 others(924): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(898): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02451.hp1 HG02886.hp2 others(6): Show |
a0001a0012 | a0001c0001a0001c0011a0001c0017others(3): Show | a0001c0001t0001a0001c0011t0003a0001c0017t0001others(3): Show | a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 others(6): Show |
9 | 11 | 0.8182 | 905 | c.267 others(924): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(898): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0147 | 1 | 3 | 0.3333 | 905 | c.267 others(924): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(898): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02145.hp2 |
a0001 | a0001c0011a0001c0034 | a0001c0011t0003a0001c0034t0002 | a0001c0011t0003g0072 a0001c0034t0002g0071 |
2 | 4 | 0.5000 | 905 | c.267 others(924): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(898): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0302 | 1 | 3 | 0.3333 | 905 | c.267 others(924): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4713970 | C | CCACATAT others(898): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0191 | 1 | 432 | 0.0023 | 905 | c.564 others(920): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2128990 | C | CGCTCCGA others(898): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 196 | 0.0051 | 905 | c.806 others(919): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(898): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0142 | 1 | 194 | 0.0052 | 905 | c.300 others(922): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(898): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0041 | 1 | 174 | 0.0057 | 905 | c.342 others(926): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(898): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0159 | 1 | 74 | 0.0135 | 905 | c.937 others(920): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634555 | C | CCCTTTCC others(898): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 244 | 0.0041 | 905 | c.105 others(922): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
EED_chr11_86239753_86283810 | 86272056 | A | ATTTTGTT others(898): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 369 | 0.0027 | 905 | c.966 others(922): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355563 | G | GGAGGAAG others(898): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 63 | 0.0159 | 905 | c.757 others(920): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86053539 | C | CCACACCA others(898): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02451.hp1 others(17): Show |
a0002a0003 | a0002c0006a0003c0005a0003c0008 | a0002c0006t0006a0003c0005t0001a0003c0005t0004others(3): Show | a0002c0006t0006g0006 a0002c0006t0006g0056 a0002c0006t0006g0062 others(17): Show |
20 | 29 | 0.6897 | 905 | c.310 others(920): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 186153 | G | GGAGGAAC others(898): Show |
downstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 256 | 0.0039 | 905 | c.*50 others(916): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4975 | chr16 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(898): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0310 | 1 | 5 | 0.2000 | 905 | c.-41 others(920): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(898): Show |
intron_variant | MODIFIER | HG02647.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 a0001c0001t0001g0173 |
2 | 6 | 0.3333 | 905 | c.-41 others(920): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LHFPL3_chr7_104323603_104913561 | 104824253 | A | ATTATATA others(898): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0009 | 1 | 67 | 0.0149 | 905 | c.683 others(924): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(898): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 80 | 0.0125 | 905 | c.125 others(922): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19478113 | G | GAGAGGGG others(898): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0020 | a0002c0020t0011 | a0002c0020t0011g0001 | 1 | 135 | 0.0074 | 905 | c.525 others(922): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(898): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0065 | 1 | 8 | 0.1250 | 905 | c.115 others(922): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NCAM2_chr21_20993409_21548329 | 21374904 | C | CAAGAAGG others(898): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0100 | 1 | 132 | 0.0076 | 905 | c.119 others(922): Show |
NCAM2 | ENSG00000154654.15 | transcript | ENST00000400546.6 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
NXN_chr17_794310_984776 | 949033 | C | CGGCCTCC others(898): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 240 | 0.0042 | 905 | c.360 others(924): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGG others(898): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 154 | 0.0065 | 905 | c.360 others(924): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(898): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0329 a0001c0001t0004g0330 |
2 | 3 | 0.6667 | 905 | c.734 others(922): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(898): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0326 | 1 | 2 | 0.5000 | 905 | c.734 others(922): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(898): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01255.hp1 HG01433.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 a0001c0001t0001g0186 a0001c0001t0001g0216 others(7): Show |
10 | 11 | 0.9091 | 905 | c.734 others(922): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(898): Show |
intron_variant | MODIFIER | NA18995.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 a0001c0001t0001g0277 |
2 | 3 | 0.6667 | 905 | c.734 others(922): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(898): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG01106.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0162 others(25): Show |
28 | 29 | 0.9655 | 905 | c.734 others(922): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982220 | A | ATCCGGGA others(898): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0085 | 1 | 93 | 0.0108 | 905 | c.575 others(926): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982220 | A | ATCCGGGA others(898): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083 | 1 | 93 | 0.0108 | 905 | c.575 others(926): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(898): Show |
upstream_gene_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 2 | 0.5000 | 905 | c.-28 others(916): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | |||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(898): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG02970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0007 others(1): Show |
7 | 8 | 0.8750 | 905 | c.-28 others(916): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 7147041 | G | GCGATCTC others(898): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0039 | 1 | 7 | 0.1429 | 905 | c.27+ others(922): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77323000 | T | TTATATTA others(898): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 136 | 0.0074 | 905 | c.389 others(926): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SLAIN1_chr13_77692687_77769229 | 77703963 | T | TATGTTTT others(898): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 246 | 0.0041 | 905 | c.626 others(922): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SLAIN1_chr13_77692687_77769229 | 77703963 | T | TATGTTTT others(898): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02602.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 a0001c0001t0002g0250 |
2 | 247 | 0.0081 | 905 | c.626 others(922): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(898): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0006 | 1 | 28 | 0.0357 | 905 | c.-50 others(916): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1222837 | A | AGTGGTGC others(898): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0153 | 1 | 183 | 0.0055 | 905 | c.719 others(924): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46170521 | T | TCCTTCTC others(898): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 85 | 0.0118 | 905 | c.194 others(922): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46170521 | T | TCCTTCTC others(898): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 85 | 0.0118 | 905 | c.194 others(922): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46170521 | T | TCCTTCTC others(898): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(112): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(79): Show |
115 | 199 | 0.5779 | 905 | c.194 others(922): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46170521 | T | TCCTTCTC others(898): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0018 | 1 | 85 | 0.0118 | 905 | c.194 others(922): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46170550 | T | TGGAGGAG others(898): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0060 | 1 | 28 | 0.0357 | 905 | c.194 others(922): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46170550 | T | TGGAGGAG others(898): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00597.hp2 others(45): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0016a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0112 a0001c0001t0001g0144 a0001c0001t0001g0145 others(38): Show |
48 | 75 | 0.6400 | 905 | c.194 others(922): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46170550 | T | TGGAGGAG others(898): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 28 | 0.0357 | 905 | c.194 others(922): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 2/4 | chr21 | TogoVar |