| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(4142): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0056 | 1 | 62 | 0.0161 | 4149 | c.286 others(4166): 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(4142): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02809.hp2 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0063 a0001c0004t0004g0064 |
2 | 63 | 0.0317 | 4149 | c.286 others(4166): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(4142): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0027 | a0001c0027t0001 | a0001c0027t0001g0061 | 1 | 94 | 0.0106 | 4149 | c.206 others(4168): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
| SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(4142): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0140 | 1 | 20 | 0.0500 | 4149 | c.206 others(4168): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
| TBC1D1_chr4_37886084_38144173 | 37950491 | T | TTTTTTTT others(4142): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0215 | 1 | 279 | 0.0036 | 4149 | c.417 others(4168): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| FMN2_chr1_240086883_240480187 | 240185145 | C | CTTCCCCT others(4143): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0169 | 1 | 132 | 0.0076 | 4150 | c.193 others(4169): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(4143): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0310 | 1 | 250 | 0.0040 | 4150 | c.112 others(4167): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
| TBC1D1_chr4_37886084_38144173 | 37950491 | T | TTTTTTTT others(4143): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0007 | a0001c0007t0011 | a0001c0007t0011g0106 | 1 | 279 | 0.0036 | 4150 | c.417 others(4169): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| TBC1D1_chr4_37886084_38144173 | 37950491 | T | TTTTTTTT others(4143): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01255.hp1 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0007a0003c0006a0003c0009others(3): Show | a0001c0007t0005a0003c0006t0013a0003c0009t0001others(5): Show | a0001c0007t0005g0120 a0003c0006t0013g0282 a0003c0009t0001g0214 others(6): Show |
9 | 287 | 0.0314 | 4150 | c.417 others(4169): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| TBC1D1_chr4_37886084_38144173 | 37950491 | T | TTTTTTTT others(4143): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00673.hp1 others(13): Show |
a0001a0002a0004others(5): Show | a0001c0005a0001c0018a0002c0004others(7): Show | a0001c0005t0006a0001c0018t0004a0002c0004t0001others(12): Show | a0001c0005t0006g0146 a0001c0018t0004g0014 a0002c0004t0001g0227 others(13): Show |
16 | 294 | 0.0544 | 4150 | c.417 others(4169): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4144): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0029 | 1 | 8 | 0.1250 | 4151 | c.-45 others(4160): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
| LAMC1_chr1_183018420_183150592 | 183149942 | C | CCTCTTCC others(4145): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02818.hp2 HG06807.hp2 |
a0003a0004 | a0003c0004a0004c0007 | a0003c0004t0005a0004c0007t0006 | a0003c0004t0005g0248 a0004c0007t0006g0218 a0004c0007t0006g0219 |
3 | 41 | 0.0732 | 4152 | c.*71 others(4163): Show |
LAMC1 | ENSG00000135862.6 | transcript | ENST00000258341.5 | protein_coding | 4351 | chr1 | TogoVar | |||||||
| MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4145): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0011 | 1 | 8 | 0.1250 | 4152 | c.-45 others(4161): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
| SLC38A10_chr17_81239811_81300307 | 81249360 | G | GATGAAGG others(4145): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062 | 1 | 94 | 0.0106 | 4152 | c.206 others(4171): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
| FAT3_chr11_92219818_92901473 | 92329738 | G | GACTTTAG others(4146): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0026 | a0026c0061 | a0026c0061t0001 | a0026c0061t0001g0042 | 1 | 7 | 0.1429 | 4153 | c.-17 others(4172): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| CLCN5_chrX_49917596_50104230 | 50057648 | A | ACTATCCA others(4148): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 173 | 0.0058 | 4155 | c.164 others(4174): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| FAT3_chr11_92219818_92901473 | 92329738 | G | GACTTTAG others(4148): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0027 | 1 | 7 | 0.1429 | 4155 | c.-17 others(4174): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| SLC35F3_chr1_233899676_234329511 | 234207442 | T | TCCTTCTT others(4148): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0156 | 1 | 23 | 0.0435 | 4155 | c.284 others(4174): Show |
SLC35F3 | ENSG00000183780.13 | transcript | ENST00000366618.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
| LRRC27_chr10_132327193_132386508 | 132364368 | T | TACACCCA others(4149): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 220 | 0.0045 | 4156 | c.129 others(4175): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| PIP5K1C_chr19_3625183_3705468 | 3649724 | T | TCCCCTGC others(4149): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0219 | 1 | 330 | 0.0030 | 4156 | c.112 others(4175): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
| CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(4151): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0044 | a0044c0067 | a0044c0067t0001 | a0044c0067t0001g0102 | 1 | 13 | 0.0769 | 4158 | c.354 others(4177): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
| PRPF31_chr19_54110754_54136713 | 54133762 | C | CCTCTCTC others(4151): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 194 | 0.0052 | 4158 | c.*23 others(4169): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2050 | chr19 | TogoVar | |||||||
| SERINC2_chr1_31408213_31439678 | 31432075 | C | CAGGGTGG others(4151): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0171 | 1 | 188 | 0.0053 | 4158 | c.101 others(4175): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| IFI16_chr1_159004907_159060151 | 159043437 | A | AGATCCAA others(4152): Show |
intron_variant | MODIFIER | HG03688.hp2 HG03710.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0129 |
3 | 317 | 0.0095 | 4159 | c.133 others(4178): Show |
IFI16 | ENSG00000163565.20 | transcript | ENST00000295809.12 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(4153): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 16 | 0.0625 | 4160 | c.164 others(4179): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4153): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 283 | 0.0035 | 4160 | c.112 others(4177): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(4154): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0010 | a0010c0126 | a0010c0126t0001 | a0010c0126t0001g0275 | 1 | 34 | 0.0294 | 4161 | c.299 others(4176): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
| PAK2_chr3_196734857_196837647 | 196811213 | T | TTCCTTCC others(4155): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0001 | 1 | 161 | 0.0062 | 4162 | c.773 others(4177): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| RGS17_chr6_152999459_153136282 | 153101791 | A | ACTCTCTC others(4155): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0309 | 1 | 26 | 0.0385 | 4162 | c.-26 others(4181): Show |
RGS17 | ENSG00000091844.8 | transcript | ENST00000206262.2 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
| MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4156): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 4163 | c.-45 others(4172): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
| PHRF1_chr11_571470_617222 | 585418 | C | CCTTTCCA others(4156): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0086 | 1 | 174 | 0.0057 | 4163 | c.215 others(4180): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| UNC13B_chr9_35157009_35410335 | 35174133 | C | CCTCTCTC others(4157): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0177 | 1 | 85 | 0.0118 | 4164 | c.22+ others(4181): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| UNC13B_chr9_35157009_35410335 | 35174133 | C | CCTCTCTC others(4157): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03130.hp2 |
a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0178 a0002c0011t0001g0179 |
2 | 86 | 0.0233 | 4164 | c.22+ others(4181): Show |
UNC13B | ENSG00000198722.15 | transcript | ENST00000635942.2 | protein_coding | 1/39 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| TBC1D1_chr4_37886084_38144173 | 37950491 | T | TTTTTTTT others(4158): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 279 | 0.0036 | 4165 | c.417 others(4184): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4159): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 4166 | c.-45 others(4175): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
| TECTA_chr11_121096243_121196490 | 121185949 | T | TTAATGAA others(4159): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0326 | 1 | 316 | 0.0032 | 4166 | c.600 others(4185): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | chr11 | TogoVar | |||||||
| SERINC2_chr1_31408213_31439678 | 31432146 | A | ATAGGGTG others(4160): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0367 | 1 | 344 | 0.0029 | 4167 | c.101 others(4184): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
| SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(4160): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0082 | 1 | 160 | 0.0063 | 4167 | c.101 others(4184): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| FOXK2_chr17_82514732_82609602 | 82586551 | A | AGGGGAAA others(4162): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0261 | 1 | 172 | 0.0058 | 4169 | c.157 others(4186): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4163): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0099 | 1 | 3 | 0.3333 | 4170 | c.-34 others(4185): 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(4163): Show |
intron_variant | MODIFIER | HG02280.hp2 HG03453.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0026 | 2 | 4 | 0.5000 | 4170 | c.-34 others(4185): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| MRPL48_chr11_73782874_73870133 | 73816358 | C | CCGGAACT others(4164): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 283 | 0.0035 | 4171 | c.112 others(4188): Show |
MRPL48 | ENSG00000175581.14 | transcript | ENST00000310614.12 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| TBC1D1_chr4_37886084_38144173 | 37950491 | T | TTTTTTTT others(4164): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0099 | 1 | 279 | 0.0036 | 4171 | c.417 others(4190): Show |
TBC1D1 | ENSG00000065882.18 | transcript | ENST00000698857.1 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| GRM4_chr6_34013643_34151087 | 34119403 | A | AAGAGAGA others(4165): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0203 a0001c0003t0003g0204 |
2 | 102 | 0.0196 | 4172 | c.519 others(4191): Show |
GRM4 | ENSG00000124493.14 | transcript | ENST00000538487.7 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
| OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4165): Show |
intron_variant | MODIFIER | HG02615.hp1 HG03209.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0025 | 2 | 4 | 0.5000 | 4172 | c.-34 others(4187): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| TECTA_chr11_121096243_121196490 | 121185980 | G | GAATGCTT others(4165): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0318 | 1 | 260 | 0.0038 | 4172 | c.600 others(4191): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| TECTA_chr11_121096243_121196490 | 121185980 | G | GAATGCTT others(4165): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0319 | 1 | 260 | 0.0038 | 4172 | c.600 others(4191): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(4166): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0008 | a0001c0008t0010 | a0001c0008t0010g0040 | 1 | 4 | 0.2500 | 4173 | c.296 others(4190): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4167): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0136 | 1 | 7 | 0.1429 | 4174 | c.507 others(4191): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4167): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0090 | 1 | 7 | 0.1429 | 4174 | c.507 others(4191): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |