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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4235): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0078 | 1 | 144 | 0.0069 | 4242 | c.507 others(4259): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(4235): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0024 | 1 | 62 | 0.0161 | 4242 | c.*13 others(4255): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(4236): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0050 | a0050c0077 | a0050c0077t0001 | a0050c0077t0001g0123 | 1 | 282 | 0.0036 | 4243 | c.299 others(4258): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4237): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18747.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0120 a0001c0003t0001g0080 |
2 | 144 | 0.0139 | 4244 | c.507 others(4261): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4238): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0121 | 1 | 144 | 0.0069 | 4245 | c.507 others(4262): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(4238): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0097 | 1 | 298 | 0.0034 | 4245 | c.126 others(4262): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(4238): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0027 | a0003c0027t0022 | a0003c0027t0022g0263 | 1 | 274 | 0.0037 | 4245 | c.179 others(4264): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(4238): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0242 | 1 | 274 | 0.0037 | 4245 | c.179 others(4264): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(4238): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0262 | 1 | 274 | 0.0037 | 4245 | c.179 others(4264): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(4238): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00733.hp1 HG01175.hp2 others(5): Show |
a0003a0005a0011 | a0003c0003a0005c0010a0011c0029 | a0003c0003t0004a0003c0003t0007a0005c0010t0004others(1): Show | a0003c0003t0004g0244 a0003c0003t0004g0245 a0003c0003t0004g0252 others(5): Show |
8 | 274 | 0.0292 | 4245 | c.179 others(4264): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(4238): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0240 | 1 | 274 | 0.0037 | 4245 | c.179 others(4264): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(4238): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0246 | 1 | 274 | 0.0037 | 4245 | c.179 others(4264): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807858 | C | CCTCAGCC others(4238): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 314 | 0.0032 | 4245 | c.*36 others(4256): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3572 | chr2 | TogoVar | |||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4239): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0003 | 1 | 144 | 0.0069 | 4246 | c.507 others(4263): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4239): Show |
intron_variant | MODIFIER | HG02738.hp1 HG02738.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0034 | a0001c0001t0012g0091 a0001c0002t0034g0015 |
2 | 144 | 0.0139 | 4246 | c.507 others(4263): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(4239): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0024 | a0024c0044 | a0024c0044t0001 | a0024c0044t0001g0156 | 1 | 298 | 0.0034 | 4246 | c.126 others(4263): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4240): Show |
upstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0185 | 1 | 251 | 0.0040 | 4247 | c.-45 others(4256): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4241): Show |
intron_variant | MODIFIER | NA18998.hp1 NA18998.hp2 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0211 a0001c0003t0002g0218 |
2 | 268 | 0.0075 | 4248 | c.137 others(4265): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4241): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0190 | 1 | 268 | 0.0037 | 4248 | c.137 others(4265): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BAHCC1_chr17_81390457_81471331 | 81426076 | T | TGGTGATG others(4241): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0039 | a0039c0058 | a0039c0058t0017 | a0039c0058t0017g0191 | 1 | 332 | 0.0030 | 4248 | c.179 others(4263): Show |
BAHCC1 | ENSG00000266074.11 | transcript | ENST00000675386.2 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431850 | T | TAGGGTGG others(4241): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0006 | a0002c0006t0006 | a0002c0006t0006g0128 | 1 | 376 | 0.0027 | 4248 | c.101 others(4267): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(4241): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0313 | 1 | 390 | 0.0026 | 4248 | c.161 others(4267): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(4241): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03195.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0343 a0001c0002t0001g0344 |
2 | 390 | 0.0051 | 4248 | c.161 others(4267): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
ZFPM1_chr16_88448280_88542031 | 88501188 | C | CATCCCGC others(4241): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0007 | a0007c0025 | a0007c0025t0007 | a0007c0025t0007g0067 | 1 | 318 | 0.0031 | 4248 | c.268 others(4267): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | chr16 | TogoVar | |||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4243): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0130 | 1 | 144 | 0.0069 | 4250 | c.507 others(4267): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
FAM227A_chr22_38573118_38661392 | 38644315 | A | AAAAGAGG others(4243): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0280 | 1 | 328 | 0.0031 | 4250 | c.225 others(4267): Show |
FAM227A | ENSG00000184949.18 | transcript | ENST00000535113.7 | protein_coding | 3/16 | chr22 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(4244): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0006 | a0006c0013 | a0006c0013t0001 | a0006c0013t0001g0031 | 1 | 170 | 0.0059 | 4251 | c.642 others(4268): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586205 | G | GCGGGGGG others(4244): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0172 | 1 | 308 | 0.0033 | 4251 | c.157 others(4264): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(4244): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0326 | 1 | 390 | 0.0026 | 4251 | c.161 others(4270): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(4244): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02723.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 |
3 | 390 | 0.0077 | 4251 | c.161 others(4270): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(4244): Show |
intron_variant | MODIFIER | HG03540.hp1 NA19043.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0021 a0002c0004t0001g0279 |
2 | 390 | 0.0051 | 4251 | c.161 others(4270): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(4244): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0325 | 1 | 390 | 0.0026 | 4251 | c.161 others(4270): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(4244): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0327 | 1 | 390 | 0.0026 | 4251 | c.161 others(4270): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(4244): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01928.hp2 HG02040.hp2 others(14): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0009t0001 | a0001c0002t0001g0314 a0001c0002t0001g0317 a0001c0002t0001g0318 others(14): Show |
17 | 390 | 0.0436 | 4251 | c.161 others(4270): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(4244): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0322 | 1 | 390 | 0.0026 | 4251 | c.161 others(4270): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(4244): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0342 | 1 | 390 | 0.0026 | 4251 | c.161 others(4270): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(4244): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0276 | 1 | 390 | 0.0026 | 4251 | c.161 others(4270): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(4244): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0333 | 1 | 390 | 0.0026 | 4251 | c.161 others(4270): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(4245): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 214 | 0.0047 | 4252 | c.565 others(4269): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240184948 | T | TCCCCTTC others(4245): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0067 | a0067c0091 | a0067c0091t0003 | a0067c0091t0003g0120 | 1 | 174 | 0.0058 | 4252 | c.193 others(4271): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1072941 | G | GAGCCCCC others(4248): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0003 | a0003c0037 | a0003c0037t0003 | a0003c0037t0003g0008 | 1 | 118 | 0.0085 | 4255 | c.224 others(4272): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(4250): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0222 | 1 | 316 | 0.0032 | 4257 | c.44- others(4270): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431777 | A | ATAGGGTG others(4250): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0144 | 1 | 376 | 0.0027 | 4257 | c.101 others(4276): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502693 | G | GTGGGAGA others(4253): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 188 | 0.0053 | 4260 | c.147 others(4277): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(4254): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0181 | 1 | 298 | 0.0034 | 4261 | c.126 others(4278): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TTN_chr2_178520989_178812423 | 178654252 | A | ACTTTCTT others(4254): Show |
frameshift_variant others(1): Show |
HIGH | HG00609.hp1 HG01346.hp2 HG01978.hp1 |
a0015a0045 | a0015c0176a0015c0182a0045c0179 | a0015c0176t0001a0015c0182t0001a0045c0179t0001 | a0015c0176t0001g0045 a0015c0182t0001g0036 a0045c0179t0001g0051 |
3 | 242 | 0.0124 | 4261 | c.383 others(4272): Show |
p.Val others(7): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 193/363 | 38560/109224 | 38335/107976 | 12779/35991 | chr2 | TogoVar | |||
TTN_chr2_178520989_178812423 | 178658134 | C | CGGCTTCT others(4254): Show |
frameshift_variant others(1): Show |
HIGH | HG02486.hp1 | a0042 | a0042c0172 | a0042c0172t0002 | a0042c0172t0002g0055 | 1 | 242 | 0.0041 | 4261 | c.369 others(4272): Show |
p.Ala others(7): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 186/363 | 37959/109224 | 37734/107976 | 12578/35991 | chr2 | TogoVar | |||
TTN_chr2_178520989_178812423 | 178658884 | T | TGATTGAC others(4254): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0070 | a0070c0152 | a0070c0152t0002 | a0070c0152t0002g0088 | 1 | 242 | 0.0041 | 4261 | c.374 others(4278): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 182/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178660715 | G | GGAAACTA others(4254): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0129 | a0129c0115 | a0129c0115t0001 | a0129c0115t0001g0241 | 1 | 242 | 0.0041 | 4261 | c.372 others(4282): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 180/362 | chr2 | TogoVar | |||||||
TTN_chr2_178520989_178812423 | 178660715 | G | GGAAACTA others(4254): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03139.hp1 |
a0057a0063 | a0057c0181a0063c0200 | a0057c0181t0001a0063c0200t0001 | a0057c0181t0001g0043 a0063c0200t0001g0044 |
2 | 242 | 0.0083 | 4261 | c.372 others(4282): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 180/362 | chr2 | TogoVar |