| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(3226): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02109.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0043a0002c0002t0002g0063 | 2 | 168 | 0.0119 | 3233 | c.206 others(3254): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(3226): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0059 | 1 | 276 | 0.0036 | 3233 | c.58- others(3250): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(3226): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0083 | 1 | 276 | 0.0036 | 3233 | c.58- others(3250): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(3226): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0002c0004t0002 | a0001c0001t0003g0066a0002c0004t0002g0017 | 2 | 276 | 0.0073 | 3233 | c.58- others(3250): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3226): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 158 | 0.0063 | 3233 | c.284 others(3252): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| SRGAP2_chr1_206198541_206469436 | 206384222 | T | TTTTTCAC others(3226): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0177 | 1 | 182 | 0.0055 | 3233 | c.486 others(3248): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SRGAP2_chr1_206198541_206469436 | 206384222 | T | TTTTTCAC others(3226): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18993.hp2 NA19081.hp2 |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0025 | a0001c0003t0006g0173a0001c0003t0006g0176a0001c0003t0025g0033 | 3 | 182 | 0.0165 | 3233 | c.486 others(3248): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3227): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0164 | 1 | 236 | 0.0042 | 3234 | c.294 others(3251): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
| EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3227): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0040 | 1 | 292 | 0.0034 | 3234 | c.228 others(3251): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
| EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3227): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0125 | 1 | 369 | 0.0027 | 3234 | c.-50 others(3245): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137355619 | A | ACGGAGGA others(3227): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 | 1 | 82 | 0.0122 | 3234 | c.757 others(3249): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
| HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3227): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02976.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0129a0001c0001t0002g0167a0001c0001t0002g0168others(3): Show | 6 | 268 | 0.0224 | 3234 | c.139 others(3255): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| IMPA2_chr18_11976507_12035877 | 12000931 | T | TTAAAAAG others(3227): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 | 1 | 364 | 0.0028 | 3234 | c.230 others(3251): Show |
IMPA2 | ENSG00000141401.12 | transcript | ENST00000269159.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| PHTF2_chr7_77793773_77962225 | 77951414 | T | TTTTTTTT others(3227): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0302 | 1 | 314 | 0.0032 | 3234 | c.201 others(3251): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 16/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3227): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0156 | 1 | 216 | 0.0046 | 3234 | c.-51 others(3253): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| SRGAP2_chr1_206198541_206469436 | 206384222 | T | TTTTTCAC others(3227): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0175 | 1 | 182 | 0.0055 | 3234 | c.486 others(3249): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| THEG_chr19_356747_381026 | 377335 | T | TCCCCCTC others(3227): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0083 | 1 | 370 | 0.0027 | 3234 | c.-13 others(3245): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1310 | chr19 | TogoVar | ||||||
| ABR_chr17_998519_1184981 | 1065180 | G | GCTGTTGT others(3228): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 | 1 | 337 | 0.0030 | 3235 | c.118 others(3254): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | ||||||
| AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(3228): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0156 | 1 | 268 | 0.0037 | 3235 | c.137 others(3252): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| EYS_chr6_63714980_65712226 | 64295352 | A | AGGAGGAG others(3228): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0019 | 1 | 24 | 0.0417 | 3235 | c.619 others(3256): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | ||||||
| GALNT17_chr7_71127144_71718599 | 71680343 | T | TCTTCCTC others(3228): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0038 | 1 | 76 | 0.0132 | 3235 | c.150 others(3254): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GALNT17_chr7_71127144_71718599 | 71680343 | T | TCTTCCTC others(3228): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0026 | 1 | 76 | 0.0132 | 3235 | c.150 others(3254): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ACTN2_chr1_236681499_236769631 | 236714689 | T | TACCACTG others(3229): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0002a0001c0003t0005a0001c0006t0002 | a0001c0003t0002g0051a0001c0003t0005g0047a0001c0003t0005g0050others(2): Show | 5 | 344 | 0.0145 | 3236 | c.127 others(3253): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ACTN2_chr1_236681499_236769631 | 236714689 | T | TACCACTG others(3229): Show |
intron_variant | MODIFIER | HG02886.hp2 NA18906.hp2 |
a0003 | a0003c0012 | a0003c0012t0008 | a0003c0012t0008g0092a0003c0012t0008g0098 | 2 | 344 | 0.0058 | 3236 | c.127 others(3253): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(3229): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0281 | 1 | 290 | 0.0035 | 3236 | c.129 others(3255): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3229): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0044 | 1 | 158 | 0.0063 | 3236 | c.284 others(3255): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(3230): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0081 | 1 | 170 | 0.0059 | 3237 | c.642 others(3254): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| HPCAL1_chr2_10297904_10432604 | 10399265 | C | CCACCACC others(3230): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0087 | 1 | 314 | 0.0032 | 3237 | c.-25 others(3254): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3230): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0122 | 1 | 158 | 0.0063 | 3237 | c.284 others(3256): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3231): Show |
upstream_gene_variant | MODIFIER | NA18944.hp1 NA18979.hp1 |
a0001a0003 | a0001c0002a0003c0001 | a0001c0002t0003a0003c0001t0002 | a0001c0002t0003g0009a0003c0001t0002g0035 | 2 | 369 | 0.0054 | 3238 | c.-50 others(3249): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
| EYS_chr6_63714980_65712226 | 64295352 | A | AGGAGGAG others(3231): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0014 | a0014c0004 | a0014c0004t0002 | a0014c0004t0002g0024 | 1 | 24 | 0.0417 | 3238 | c.619 others(3259): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | ||||||
| TTLL6_chr17_48757234_48822229 | 48806110 | A | AAAAAAAA others(3231): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 330 | 0.0030 | 3238 | c.104 others(3255): Show |
TTLL6 | ENSG00000170703.16 | transcript | ENST00000393382.8 | protein_coding | 1/15 | chr17 | TogoVar | ||||||
| CACNA1C_chr12_2047987_2702950 | 2539624 | C | CTTCATAA others(3232): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0085 | 1 | 104 | 0.0096 | 3239 | c.139 others(3260): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3232): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 316 | 0.0032 | 3239 | c.44- others(3252): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(3232): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0195 | 1 | 345 | 0.0029 | 3239 | c.*17 others(3250): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
| DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(3232): Show |
downstream_gene_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0198 | 1 | 345 | 0.0029 | 3239 | c.*17 others(3250): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
| DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(3232): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0005 | a0005c0014 | a0005c0014t0003 | a0005c0014t0003g0027 | 1 | 421 | 0.0024 | 3239 | c.*22 others(3250): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
| DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(3232): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0005 | a0005c0014 | a0005c0014t0003 | a0005c0014t0003g0059 | 1 | 421 | 0.0024 | 3239 | c.*22 others(3250): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
| DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(3233): Show |
downstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0127 | 1 | 345 | 0.0029 | 3240 | c.*17 others(3251): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | ||||||
| DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(3233): Show |
downstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 421 | 0.0024 | 3240 | c.*22 others(3251): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | ||||||
| NXN_chr17_794310_984776 | 841610 | A | AGCGCATC others(3233): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 | 1 | 242 | 0.0041 | 3240 | c.361 others(3259): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| RTEL1_chr20_63653312_63701245 | 63693462 | T | TCCACCAC others(3233): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 60 | 0.0167 | 3240 | c.299 others(3257): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(3233): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01192.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0085a0001c0003t0002g0007 | 2 | 158 | 0.0127 | 3240 | c.284 others(3259): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
| THADA_chr2_43225851_43601038 | 43387547 | T | TGGTTGCT others(3233): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0015 | 1 | 206 | 0.0049 | 3240 | c.422 others(3261): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 29/37 | chr2 | TogoVar | ||||||
| UCKL1_chr20_63934829_63961416 | 63948632 | G | GGCGTGTG others(3233): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 356 | 0.0028 | 3240 | c.114 others(3257): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3234): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0115 | 1 | 268 | 0.0037 | 3241 | c.139 others(3262): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3234): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0060 | 1 | 268 | 0.0037 | 3241 | c.139 others(3262): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| THADA_chr2_43225851_43601038 | 43387547 | T | TGGTTGCT others(3234): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0017 | 1 | 206 | 0.0049 | 3241 | c.422 others(3262): Show |
THADA | ENSG00000115970.19 | transcript | ENST00000405975.7 | protein_coding | 29/37 | chr2 | TogoVar | ||||||
| USP12_chr13_27061156_27176811 | 27063946 | G | GGGAGGAA others(3234): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0087 | 1 | 167 | 0.0060 | 3241 | c.*53 others(3252): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2209 | chr13 | TogoVar | ||||||
| CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACTC others(3235): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0020 | 1 | 40 | 0.0250 | 3242 | c.*14 others(3253): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar |