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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NBDY_chrX_56724243_56824179 | 56770915 | T | TGGGGGGG others(5438): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 103 | 0.0097 | 5445 | c.*16 others(5466): Show |
NBDY | ENSG00000204272.13 | transcript | ENST00000374922.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5438): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 3 | 0.3333 | 5445 | c.-34 others(5460): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5438): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02809.hp1 |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0008a0006c0010t0008 | a0001c0001t0008g0020 a0006c0010t0008g0020 |
2 | 4 | 0.5000 | 5445 | c.-34 others(5460): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5438): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0082 | 1 | 3 | 0.3333 | 5445 | c.-34 others(5460): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5440): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0055 | 1 | 3 | 0.3333 | 5447 | c.-34 others(5462): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5440): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02040.hp2 HG02523.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 7 | 9 | 0.7778 | 5447 | c.-34 others(5462): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5440): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 3 | 0.3333 | 5447 | c.-34 others(5462): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5440): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 3 | 0.3333 | 5447 | c.-34 others(5462): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5440): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18960.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 2 | 4 | 0.5000 | 5447 | c.-34 others(5462): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5440): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 3 | 0.3333 | 5447 | c.-34 others(5462): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PDE4D_chr5_58964038_59898726 | 59300167 | T | TACTAAAT others(5440): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 74 | 0.0135 | 5447 | c.456 others(5466): Show |
PDE4D | ENSG00000113448.21 | transcript | ENST00000340635.11 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811226 | T | TACCCTCC others(5441): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0025 | 1 | 149 | 0.0067 | 5448 | c.773 others(5463): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | chr3 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 4265399 | T | TAGAAAGG others(5443): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0085 | 1 | 180 | 0.0056 | 5450 | c.388 others(5469): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1065223 | A | ACTGTTAT others(5444): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0253 | 1 | 300 | 0.0033 | 5451 | c.118 others(5470): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(5444): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 3 | 0.3333 | 5451 | c.-34 others(5466): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5446): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 55 | 0.0182 | 5453 | c.891 others(5468): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716419 | T | TTGGTGTC others(5447): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0103 | 1 | 112 | 0.0089 | 5454 | c.86- others(5465): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502729 | G | GCGGGGGG others(5447): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 155 | 0.0065 | 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 | 184 | 0.0054 | 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 | a0001c0001t0007 | a0001c0001t0007g0044 | 1 | 149 | 0.0067 | 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 | a0001c0001t0001g0139 | 1 | 55 | 0.0182 | 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 | 33 | 0.0303 | 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 | 33 | 0.0303 | 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 | 181 | 0.0110 | 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 | a0001c0002t0036 | a0001c0002t0036g0204 | 1 | 33 | 0.0303 | 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 | a0001c0002t0029g0031 | 1 | 2 | 0.5000 | 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 | 2 | 0.5000 | 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 | a0019c0024t0009 | a0019c0024t0009g0086 | 1 | 180 | 0.0056 | 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 | 180 | 0.0056 | 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 | a0001c0001t0013a0002c0002t0025 | a0001c0001t0013g0046 a0002c0002t0025g0087 |
2 | 181 | 0.0110 | 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 | a0002c0002t0065 | a0002c0002t0065g0097 | 1 | 180 | 0.0056 | 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 | 240 | 0.0042 | 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 | 180 | 0.0056 | 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 | a0002c0002t0001g0117 | 1 | 146 | 0.0068 | 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 | a0001c0001t0002g0081 | 1 | 142 | 0.0070 | 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 | a0006 | a0006c0011 | a0006c0011t0102 | a0006c0011t0102g0017 | 1 | 73 | 0.0137 | 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 | a0001c0001t0001g0235 | 1 | 62 | 0.0161 | 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 | 142 | 0.0070 | 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 | 64 | 0.0469 | 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 | 129 | 0.0078 | 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 | a0001c0001t0002g0101 | 1 | 117 | 0.0085 | 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 | 62 | 0.0161 | 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 | a0001c0001t0001g0245 | 1 | 62 | 0.0161 | 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 | 66 | 0.0758 | 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 | a0001c0001t0001g0189 | 1 | 62 | 0.0161 | 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 a0001c0001t0008g0248 a0001c0001t0008g0251 |
3 | 64 | 0.0469 | 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 | a0001c0001t0001g0264 | 1 | 62 | 0.0161 | 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 | a0001c0001t0001g0250 | 1 | 62 | 0.0161 | 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 | a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0180 others(7): Show |
10 | 71 | 0.1408 | 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 | 62 | 0.0161 | 5467 | c.286 others(5484): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |