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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PNPLA7_chr9_137454952_137555402 | 137502729 | G | GCGGGGGG others(5447): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 188 | 0.0053 | 5454 | c.147 others(5473): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1223259 | T | CGGTGCAG others(5447): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 190 | 0.0053 | 5454 | c.719 others(5473): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56780942 | C | CGGTTTTA others(5448): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0044 | 1 | 160 | 0.0063 | 5455 | c.*16 others(5476): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5451): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 370 | 0.0027 | 5458 | c.891 others(5473): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69191412 | C | CAATTAGC others(5451): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0205 | 1 | 218 | 0.0046 | 5458 | c.580 others(5475): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SNTB2_chr16_69182164_69314052 | 69191412 | C | CAATTAGC others(5451): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0206 | 1 | 218 | 0.0046 | 5458 | c.580 others(5475): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 4265399 | T | TAGAAAGG others(5452): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0083 a0001c0001t0006g0084 |
2 | 188 | 0.0106 | 5459 | c.388 others(5478): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
SNTB2_chr16_69182164_69314052 | 69191412 | C | CAATTAGC others(5452): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0204 | 1 | 218 | 0.0046 | 5459 | c.580 others(5476): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5453): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0037 | 1 | 104 | 0.0096 | 5460 | c.477 others(5481): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2256047 | C | CTTTACAA others(5453): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0014 | a0001c0014t0032 | a0001c0014t0032g0023 | 1 | 104 | 0.0096 | 5460 | c.477 others(5481): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 4265399 | T | TAGAAAGG others(5453): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0019 | a0019c0024 | a0019c0024t0061 | a0019c0024t0061g0085 | 1 | 188 | 0.0053 | 5460 | c.388 others(5479): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4265399 | T | TAGAAAGG others(5453): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 188 | 0.0053 | 5460 | c.388 others(5479): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4265399 | T | TAGAAAGG others(5453): Show |
intron_variant | MODIFIER | HG02965.hp1 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0023 | a0001c0001t0012g0046 a0002c0002t0023g0086 |
2 | 188 | 0.0106 | 5460 | c.388 others(5479): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4265399 | T | TAGAAAGG others(5454): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0002 | a0002c0002 | a0002c0002t0073 | a0002c0002t0073g0097 | 1 | 188 | 0.0053 | 5461 | c.388 others(5480): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952807 | T | TCACACTG others(5454): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 242 | 0.0041 | 5461 | c.360 others(5480): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4265399 | T | TAGAAAGG others(5455): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0016 | a0016c0018 | a0016c0018t0019 | a0016c0018t0019g0048 | 1 | 188 | 0.0053 | 5462 | c.388 others(5481): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 323693 | T | TGTGTGTG others(5455): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0124 | 1 | 155 | 0.0065 | 5462 | c.-49 others(5473): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4898 | chrX | TogoVar | |||||||
NBDY_chrX_56724243_56824179 | 56776312 | C | CTTTTTTG others(5457): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0082 | 1 | 160 | 0.0063 | 5464 | c.*16 others(5485): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298761 | C | CGTGGACA others(5457): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0007 | a0007c0011 | a0007c0011t0108 | a0007c0011t0108g0022 | 1 | 176 | 0.0057 | 5464 | c.734 others(5479): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5457): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 282 | 0.0036 | 5464 | c.286 others(5481): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56776312 | C | CTTTTTTG others(5459): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 160 | 0.0063 | 5466 | c.*16 others(5487): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5459): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02965.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 |
3 | 282 | 0.0106 | 5466 | c.286 others(5483): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126948243 | G | GTGGTGAT others(5460): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0058 | a0002c0058t0002 | a0002c0058t0002g0011 | 1 | 136 | 0.0074 | 5467 | c.47- others(5484): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56770910 | C | CTTTTTTG others(5460): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 160 | 0.0063 | 5467 | c.*16 others(5488): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0243 | 1 | 282 | 0.0036 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 282 | 0.0036 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0153 a0001c0001t0005g0154 a0001c0001t0005g0155 others(2): Show |
5 | 282 | 0.0177 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 282 | 0.0036 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0244 a0001c0001t0008g0249 a0001c0001t0008g0252 |
3 | 282 | 0.0106 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 282 | 0.0036 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 282 | 0.0036 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02615.hp2 HG02818.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 others(7): Show |
10 | 282 | 0.0355 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 282 | 0.0036 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG01516.hp1 others(8): Show |
a0001 | a0001c0001a0001c0013a0001c0014 | a0001c0001t0001a0001c0001t0010a0001c0013t0001others(1): Show | a0001c0001t0001g0183 a0001c0001t0001g0189 a0001c0001t0001g0190 others(8): Show |
11 | 282 | 0.0390 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 282 | 0.0036 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 282 | 0.0036 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01106.hp2 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0276 |
3 | 282 | 0.0106 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00642.hp1 HG00735.hp2 others(59): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0006a0008c0010t0001 | a0001c0001t0001g0066 a0001c0001t0001g0077 a0001c0001t0001g0078 others(59): Show |
62 | 282 | 0.2199 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 282 | 0.0036 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0170 | 1 | 282 | 0.0036 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | HG02523.hp2 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 a0001c0001t0001g0188 |
2 | 282 | 0.0071 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 282 | 0.0036 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0176 | 1 | 282 | 0.0036 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | HG03491.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 a0001c0001t0001g0254 |
2 | 282 | 0.0071 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 282 | 0.0036 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5460): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 282 | 0.0036 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56770910 | C | CTTTTTTG others(5461): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0081 | 1 | 160 | 0.0063 | 5468 | c.*16 others(5489): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56776317 | T | TTGGGGGG others(5461): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0084 | 1 | 160 | 0.0063 | 5468 | c.*16 others(5489): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | chrX | TogoVar | |||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(5461): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 282 | 0.0036 | 5468 | c.286 others(5485): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NBDY_chrX_56724243_56824179 | 56776317 | T | TTGGGGGG others(5462): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 160 | 0.0063 | 5469 | c.*16 others(5490): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | chrX | TogoVar |