| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCC6_chr16_16144565_16228494 | 16172047 | A | AGTGGGAT others(523): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0073 | 1 | 357 | 0.0028 | 530 | c.278 others(549): Show |
ABCC6 | ENSG00000091262.17 | transcript | ENST00000205557.12 | protein_coding | 21/30 | chr16 | TogoVar | ||||||
| ADAM22_chr7_87929251_88207889 | 88110829 | G | GCCTCCCA others(523): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03453.hp2 HG03654.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0018 | a0001c0001t0001g0055a0001c0001t0001g0166a0001c0001t0002g0064others(1): Show | 4 | 230 | 0.0174 | 530 | c.473 others(547): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ADARB2_chr10_1172313_1742525 | 1464707 | C | CGCTGGAG others(523): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01433.hp1 HG01934.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0010a0001c0001t0023a0002c0002t0007others(7): Show | a0001c0001t0010g0025a0001c0001t0023g0023a0002c0002t0007g0001others(9): Show | 12 | 106 | 0.1132 | 530 | c.101 others(549): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1464707 | C | CGCTGGAG others(523): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03017.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0096a0002c0002t0004g0101 | 2 | 106 | 0.0189 | 530 | c.101 others(549): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
| ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(523): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0003 | a0003c0003 | a0003c0003t0008 | a0003c0003t0008g0027 | 1 | 262 | 0.0038 | 530 | c.775 others(545): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
| AFF2_chrX_148495617_149005663 | 148581249 | C | CATATACG others(523): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0053 | 1 | 169 | 0.0059 | 530 | c.48- others(547): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ALLC_chr2_3653200_3707671 | 3690272 | T | TCCCCCTC others(523): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0005 | a0005c0007 | a0005c0007t0004 | a0005c0007t0004g0253 | 1 | 274 | 0.0037 | 530 | c.512 others(547): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ARHGAP39_chr8_144524179_144690846 | 144687461 | G | GGCGAGCA others(523): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0091 | 1 | 246 | 0.0041 | 530 | c.-18 others(541): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1616 | chr8 | TogoVar | ||||||
| B4GALNT4_chr11_364499_387117 | 375170 | A | AAGGGAGG others(523): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0180 | 1 | 184 | 0.0054 | 530 | c.784 others(545): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(523): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02886.hp2 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0007 | 2 | 300 | 0.0067 | 530 | c.-70 others(539): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | ||||||
| BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(523): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0024 | 1 | 300 | 0.0033 | 530 | c.-70 others(539): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | ||||||
| BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGGAA others(523): Show |
upstream_gene_variant | MODIFIER | HG02897.hp1 HG03195.hp1 |
a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0007 | 2 | 300 | 0.0067 | 530 | c.-70 others(539): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | ||||||
| C20orf96_chr20_265863_295750 | 279069 | A | AGGGAGGG others(523): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0238 | 1 | 410 | 0.0024 | 530 | c.465 others(545): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
| CAMKMT_chr2_44356947_44777592 | 44588992 | T | TACTGGGA others(523): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 198 | 0.0051 | 530 | c.377 others(551): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | chr2 | TogoVar | ||||||
| CCDC63_chr12_110841987_110912535 | 110866864 | A | AGAGGGGC others(523): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 1 | 288 | 0.0035 | 530 | c.370 others(547): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(523): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0003 | a0003c0007 | a0003c0007t0017 | a0003c0007t0017g0124 | 1 | 396 | 0.0025 | 530 | c.349 others(545): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CDHR2_chr5_176544342_176600824 | 176591787 | G | GTGGTGTT others(523): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0290 | 1 | 344 | 0.0029 | 530 | c.373 others(547): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CELF2_chr10_11012872_11341675 | 11107986 | A | ACTTCCCT others(523): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0170 | 1 | 194 | 0.0052 | 530 | c.75- others(547): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CFAP157_chr9_127701988_127721002 | 127720831 | T | TTCCCCCT others(523): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01243.hp2 others(2): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0009a0002c0001t0015 | a0002c0001t0002g0002a0002c0001t0009g0002a0002c0001t0015g0002 | 5 | 354 | 0.0141 | 530 | c.*69 others(541): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 4830 | chr9 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132896153 | C | CGGTGAGA others(523): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0066 | a0066c0077 | a0066c0077t0001 | a0066c0077t0001g0127 | 1 | 246 | 0.0041 | 530 | c.321 others(549): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | ||||||
| CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(523): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 402 | 0.0025 | 530 | c.80- others(545): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(523): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 402 | 0.0025 | 530 | c.80- others(545): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CHODL_chr21_18239833_18272370 | 18251498 | A | ATATTTAT others(523): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 402 | 0.0025 | 530 | c.80- others(545): Show |
CHODL | ENSG00000154645.14 | transcript | ENST00000299295.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| CHST13_chr3_126519155_126548291 | 126535545 | G | GTCCCCAG others(523): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0089 | 1 | 364 | 0.0028 | 530 | c.98- others(543): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(523): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0105 | 1 | 270 | 0.0037 | 530 | c.162 others(551): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124812126 | T | TATTTATA others(523): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0006 | a0006c0003 | a0006c0003t0008 | a0006c0003t0008g0035 | 1 | 64 | 0.0156 | 530 | c.321 others(551): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COL21A1_chr6_56051590_56252580 | 56097795 | A | AAATATAT others(523): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0201 | 1 | 264 | 0.0038 | 530 | c.181 others(549): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
| COL21A1_chr6_56051590_56252580 | 56097795 | A | AAATATAT others(523): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01192.hp1 HG01943.hp2 |
a0003 | a0003c0006 | a0003c0006t0007 | a0003c0006t0007g0204a0003c0006t0007g0205a0003c0006t0007g0206 | 3 | 264 | 0.0114 | 530 | c.181 others(549): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | ||||||
| COL4A1_chr13_110143963_110312157 | 110255884 | A | AAGGGGGA others(523): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0072 | a0001c0072t0001 | a0001c0072t0001g0141 | 1 | 344 | 0.0029 | 530 | c.85- others(547): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
| DAP3_chr1_155684091_155744010 | 155700906 | T | TCTGGGAG others(523): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0011 | a0001c0001t0003g0065a0001c0001t0003g0066a0001c0001t0003g0067others(4): Show | 7 | 288 | 0.0243 | 530 | c.-7- others(545): Show |
DAP3 | ENSG00000132676.16 | transcript | ENST00000368336.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DAP3_chr1_155684091_155744010 | 155700906 | T | TCTGGGAG others(523): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0020 | 1 | 288 | 0.0035 | 530 | c.-7- others(545): Show |
DAP3 | ENSG00000132676.16 | transcript | ENST00000368336.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DIP2C_chr10_269201_694668 | 417622 | G | GCCTGTCA others(523): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 88 | 0.0114 | 530 | c.739 others(547): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | ||||||
| DIP2C_chr10_269201_694668 | 478176 | G | GAAGAAGG others(523): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 88 | 0.0114 | 530 | c.158 others(547): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
| DLGAP2_chr8_732628_1713476 | 977747 | G | GGCTGGGT others(523): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0017 | 1 | 40 | 0.0250 | 530 | c.73+ others(547): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 978459 | C | CGTGGGGA others(523): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0011 | a0001c0011t0015 | a0001c0011t0015g0002 | 1 | 40 | 0.0250 | 530 | c.73+ others(547): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 978459 | C | CGTGGGGA others(523): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02922.hp2 HG02976.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0002a0002c0001t0019 | a0001c0003t0001g0027a0002c0001t0002g0032a0002c0001t0019g0030 | 3 | 40 | 0.0750 | 530 | c.73+ others(547): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DLGAP2_chr8_732628_1713476 | 978618 | C | CGTGGGGA others(523): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0006 | a0002c0006t0021 | a0002c0006t0021g0014 | 1 | 40 | 0.0250 | 530 | c.73+ others(547): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| DOCK3_chr3_50669927_51389198 | 51015808 | C | CTATATAT others(523): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01175.hp2 HG01257.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0022others(1): Show | 4 | 212 | 0.0189 | 530 | c.316 others(549): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| DPEP1_chr16_89608642_89643433 | 89634876 | C | CTCCTTTC others(523): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090a0001c0001t0002g0168 | 2 | 250 | 0.0080 | 530 | c.105 others(547): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| EFCAB6_chr22_43523778_43817305 | 43730259 | A | AAAGGATG others(523): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01257.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0139a0002c0002t0001g0141a0002c0002t0001g0142others(3): Show | 6 | 290 | 0.0207 | 530 | c.757 others(547): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 8/31 | chr22 | TogoVar | ||||||
| EFCAB6_chr22_43523778_43817305 | 43730259 | A | AAAGGATG others(523): Show |
intron_variant | MODIFIER | NA18954.hp2 NA19079.hp1 |
a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0036a0008c0008t0001g0038 | 2 | 290 | 0.0069 | 530 | c.757 others(547): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 8/31 | chr22 | TogoVar | ||||||
| ENTREP2_chr15_29115252_29575979 | 29131600 | T | TCACACAC others(523): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0100 | 1 | 125 | 0.0080 | 530 | c.928 others(547): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 7/10 | chr15 | TogoVar | ||||||
| FAM53A_chr4_1634887_1689313 | 1671547 | A | ACCAGCTC others(523): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0141 | 1 | 350 | 0.0029 | 530 | c.-16 others(549): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
| FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGGA others(523): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0031 | 1 | 308 | 0.0033 | 530 | c.157 others(545): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| GNG4_chr1_235542685_235654784 | 235587634 | A | ATGTGTGT others(523): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18947.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071a0001c0001t0003g0164 | 2 | 330 | 0.0061 | 530 | c.-10 others(547): Show |
GNG4 | ENSG00000168243.11 | transcript | ENST00000391854.7 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
| GPIHBP1_chr8_143208218_143222170 | 143218217 | C | CCCCCACA others(523): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 106 | 0.0094 | 530 | c.*26 others(541): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1048 | chr8 | TogoVar | ||||||
| GPRIN1_chr5_176590802_176615156 | 176591787 | G | GTGGTGTT others(523): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 | 1 | 397 | 0.0025 | 530 | c.*50 others(541): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4014 | chr5 | TogoVar | ||||||
| GTPBP4_chr10_983434_1024932 | 1010915 | T | TCCCCACC others(523): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01496.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209a0001c0001t0001g0233 | 2 | 370 | 0.0054 | 530 | c.134 others(547): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| IDE_chr10_92446684_92579093 | 92524442 | A | ATATAATA others(523): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 314 | 0.0032 | 530 | c.661 others(547): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 4/24 | chr10 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33322870 | T | TATGGAAT others(523): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 323 | 0.0031 | 530 | c.-21 others(541): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2099 | chr21 | TogoVar |