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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPNE7_chr16_89570758_89602246 | 89587781 | G | GCCCCCGT others(964): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 348 | 0.0029 | 971 | c.927 others(986): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EIPR1_chr2_3183970_3382818 | 3221594 | T | TCGGGAAC others(964): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 250 | 0.0040 | 971 | c.417 others(988): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355671 | G | GGAGAAAG others(964): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 82 | 0.0122 | 971 | c.757 others(986): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586259 | G | GGGGAAAG others(964): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 308 | 0.0033 | 971 | c.157 others(986): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586259 | G | GGGGAAAG others(964): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0164 | 1 | 308 | 0.0033 | 971 | c.157 others(986): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154269044 | T | TCCAGGTG others(964): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01257.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0188 a0001c0001t0002g0075 a0001c0001t0002g0081 others(34): Show |
37 | 236 | 0.1568 | 971 | c.160 others(990): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
GALNT10_chr5_154185733_154425984 | 154269044 | T | TCCAGGTG others(964): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03486.hp1 HG03579.hp1 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0005t0021 | a0001c0004t0001g0021 a0001c0004t0001g0023 a0001c0005t0021g0022 |
3 | 236 | 0.0127 | 971 | c.160 others(990): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
GALNT10_chr5_154185733_154425984 | 154269044 | T | TCCAGGTG others(964): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0005 | a0001c0005t0025 | a0001c0005t0025g0190 | 1 | 236 | 0.0042 | 971 | c.160 others(990): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
GALNT10_chr5_154185733_154425984 | 154269044 | T | TCCAGGTG others(964): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0140 | 1 | 236 | 0.0042 | 971 | c.160 others(990): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
GALNT10_chr5_154185733_154425984 | 154269044 | T | TCCAGGTG others(964): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00735.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 others(34): Show |
37 | 236 | 0.1568 | 971 | c.160 others(990): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | chr5 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(964): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 376 | 0.0027 | 971 | c.-79 others(980): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997284 | G | GGGGGCGG others(964): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0295 | 1 | 375 | 0.0027 | 971 | c.-21 others(982): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 386 | chr6 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(964): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0043 | 1 | 398 | 0.0025 | 971 | c.-42 others(982): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(964): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0094 | 1 | 108 | 0.0093 | 971 | c.648 others(990): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MPG_chr16_73225_90846 | 81857 | G | GCTGACCC others(964): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02004.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 |
3 | 442 | 0.0068 | 971 | c.301 others(988): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2219901 | T | TCAAGTGC others(964): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0067 | 1 | 104 | 0.0096 | 971 | c.-42 others(992): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | |||||||
NOTCH1_chr9_136489433_136551048 | 136535645 | T | TCCCAGGG others(964): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0202 | 1 | 324 | 0.0031 | 971 | c.140 others(988): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(964): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0143 | 1 | 208 | 0.0048 | 971 | c.279 others(986): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NPRL3_chr16_80386_143673 | 81857 | G | GCTGACCC others(964): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 a0001c0001t0002g0262 |
2 | 350 | 0.0057 | 971 | c.*48 others(982): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3528 | chr16 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952193 | G | GAGACCAA others(964): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 242 | 0.0041 | 971 | c.360 others(990): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(964): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0014 | a0014c0015 | a0014c0015t0001 | a0014c0015t0001g0120 | 1 | 308 | 0.0033 | 971 | c.371 others(988): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(964): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0014 | a0014c0015 | a0014c0015t0001 | a0014c0015t0001g0119 | 1 | 308 | 0.0033 | 971 | c.371 others(988): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(964): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0057 | a0057c0087 | a0057c0087t0001 | a0057c0087t0001g0274 | 1 | 308 | 0.0033 | 971 | c.371 others(988): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
RAMAC_chr15_82981210_82996057 | 82991506 | C | CTGCACTC others(964): Show |
downstream_gene_variant | MODIFIER | HG01175.hp1 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0025 |
2 | 438 | 0.0046 | 971 | c.*14 others(982): Show |
RAMAC | ENSG00000169612.4 | transcript | ENST00000304191.4 | protein_coding | 450 | chr15 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 934092 | A | AGGGGGGG others(964): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0256 | 1 | 434 | 0.0023 | 971 | c.843 others(988): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1284171 | G | GGGGGGTT others(964): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0013 | a0013c0022 | a0013c0022t0006 | a0013c0022t0006g0269 | 1 | 290 | 0.0035 | 971 | c.464 others(984): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(964): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0034 | 1 | 268 | 0.0037 | 971 | c.*73 others(982): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
SUFU_chr10_102498972_102638535 | 102637473 | T | TATTATAT others(964): Show |
downstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0047 | 1 | 268 | 0.0037 | 971 | c.*73 others(982): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3939 | chr10 | TogoVar | |||||||
SYTL3_chr6_158645054_158769871 | 158701175 | G | GGTGAGCT others(964): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 292 | 0.0034 | 971 | c.395 others(988): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(964): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 258 | 0.0039 | 971 | c.113 others(990): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
THEG_chr19_356747_381026 | 377209 | C | CTCTGTGC others(964): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0004 | a0004c0007 | a0004c0007t0015 | a0004c0007t0015g0023 | 1 | 370 | 0.0027 | 971 | c.-12 others(982): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1184 | chr19 | TogoVar | |||||||
TH_chr11_2158929_2176815 | 2161948 | C | CACCCCTG others(964): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 388 | 0.0026 | 971 | c.*22 others(982): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 1980 | chr11 | TogoVar | |||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(964): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0202 a0001c0001t0002g0211 |
2 | 432 | 0.0046 | 971 | c.199 others(988): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(964): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0181 | 1 | 432 | 0.0023 | 971 | c.199 others(988): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(964): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0214 | 1 | 432 | 0.0023 | 971 | c.199 others(988): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TLCD5_chr11_120320299_120338686 | 120328773 | T | TGTGTGTG others(964): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0041 | 2 | 432 | 0.0046 | 971 | c.199 others(988): Show |
TLCD5 | ENSG00000181264.9 | transcript | ENST00000375095.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TP53AIP1_chr11_128930370_128947871 | 128930878 | G | GGGGTTAG others(964): Show |
downstream_gene_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0125 | 1 | 466 | 0.0022 | 971 | c.*47 others(982): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4491 | chr11 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870214 | C | CCACACAC others(964): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 338 | 0.0030 | 971 | c.*35 others(990): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917102 | G | GTCGGGTT others(964): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 344 | 0.0029 | 971 | c.218 others(986): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(965): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01256.hp1 others(14): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0008 a0001c0003t0001g0015 a0001c0003t0001g0016 others(7): Show |
17 | 346 | 0.0491 | 972 | c.116 others(989): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(965): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02559.hp1 HG02622.hp2 others(14): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0006 | a0001c0003t0001g0007 a0001c0003t0001g0013 a0001c0003t0001g0014 others(6): Show |
17 | 346 | 0.0491 | 972 | c.116 others(989): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(965): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0058 | 1 | 346 | 0.0029 | 972 | c.116 others(989): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(965): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0137 | 1 | 346 | 0.0029 | 972 | c.116 others(989): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(965): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02922.hp2 |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0002a0009c0013t0002 | a0001c0001t0002g0062 a0009c0013t0002g0114 |
2 | 346 | 0.0058 | 972 | c.116 others(989): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(965): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 346 | 0.0029 | 972 | c.116 others(989): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(965): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 346 | 0.0029 | 972 | c.116 others(989): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(965): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 346 | 0.0029 | 972 | c.116 others(989): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(965): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(124): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0012a0005c0006others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(64): Show |
127 | 346 | 0.3671 | 972 | c.116 others(989): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(965): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01981.hp2 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 |
3 | 346 | 0.0087 | 972 | c.116 others(989): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(965): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 346 | 0.0029 | 972 | c.116 others(989): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |