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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SNTB2_chr16_69182164_69314052 | 69191412 | C | CAATTAGC others(5146): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0020 a0001c0002t0008g0021 |
2 | 218 | 0.0092 | 5153 | c.580 others(5170): Show |
SNTB2 | ENSG00000168807.17 | transcript | ENST00000336278.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1065227 | C | TTGTTATG others(5147): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0288 | 1 | 337 | 0.0030 | 5154 | c.118 others(5173): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693732 | T | TCCACCTC others(5147): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 60 | 0.0167 | 5154 | c.299 others(5171): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693732 | T | TCCACCTC others(5148): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 296 | 0.0034 | 5155 | c.*67 others(5166): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4914 | chr20 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249455 | A | AGAGGAGG others(5148): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0019 | a0001c0019t0013 | a0001c0019t0013g0182 | 1 | 214 | 0.0047 | 5155 | c.206 others(5174): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
TNFRSF6B_chr20_63691652_63703684 | 63693732 | T | TCCACCTC others(5148): Show |
upstream_gene_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 33 | 0.0303 | 5155 | c.-30 others(5166): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 2919 | chr20 | TogoVar | |||||||
TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(5148): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 44 | 0.0227 | 5155 | c.296 others(5172): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241748 | A | ACACACCC others(5149): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 183 | 0.0055 | 5156 | c.107 others(5175): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5150): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 251 | 0.0040 | 5157 | c.-45 others(5166): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | CAGGGTGG others(5150): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0073 | 1 | 376 | 0.0027 | 5157 | c.101 others(5174): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(5151): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 390 | 0.0026 | 5158 | c.109 others(5173): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586564 | A | AGAGGGGA others(5151): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0009 | a0009c0019 | a0009c0019t0023 | a0009c0019t0023g0019 | 1 | 308 | 0.0033 | 5158 | c.157 others(5175): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5153): Show |
upstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 251 | 0.0040 | 5160 | c.-45 others(5169): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133762 | C | CCTCTCTC others(5154): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 227 | 0.0044 | 5161 | c.*23 others(5172): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2050 | chr19 | TogoVar | |||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(5155): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0140 | 1 | 214 | 0.0047 | 5162 | c.206 others(5181): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5156): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0173 | 1 | 251 | 0.0040 | 5163 | c.-45 others(5172): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T | TAATCATA others(5157): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0003g0162 |
3 | 344 | 0.0087 | 5164 | c.327 others(5181): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T | TCATCATA others(5157): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02132.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 2 | 344 | 0.0058 | 5164 | c.327 others(5181): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGAG others(5158): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 170 | 0.0059 | 5165 | c.86- others(5176): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863941 | T | TTCACAAC others(5160): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0165 | 1 | 318 | 0.0031 | 5167 | c.225 others(5184): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
TUBB4A_chr19_6489319_6507309 | 6493677 | T | TATTATTT others(5160): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0053 | 1 | 428 | 0.0023 | 5167 | c.*14 others(5178): Show |
TUBB4A | ENSG00000104833.12 | transcript | ENST00000264071.7 | protein_coding | 641 | chr19 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5163): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0205 | 1 | 318 | 0.0031 | 5170 | c.225 others(5187): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(5164): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 370 | 0.0027 | 5171 | c.891 others(5186): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5165): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0216 | 1 | 344 | 0.0029 | 5172 | c.127 others(5189): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5165): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0247 | 1 | 344 | 0.0029 | 5172 | c.127 others(5189): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5165): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0233 | 1 | 344 | 0.0029 | 5172 | c.127 others(5189): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5165): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0214 | 1 | 344 | 0.0029 | 5172 | c.127 others(5189): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5165): Show |
upstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0004 | 1 | 251 | 0.0040 | 5172 | c.-45 others(5181): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5166): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0187 | 1 | 344 | 0.0029 | 5173 | c.127 others(5190): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714756 | T | TACCACTG others(5167): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0013 | a0001c0013t0023 | a0001c0013t0023g0095 | 1 | 344 | 0.0029 | 5174 | c.127 others(5191): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5167): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 50 | 0.0200 | 5174 | c.287 others(5193): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294562 | A | AACTCTAG others(5167): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 404 | 0.0050 | 5174 | c.340 others(5191): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5168): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 251 | 0.0040 | 5175 | c.-45 others(5184): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333733 | A | CTGAGGAT others(5169): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 370 | 0.0027 | 5176 | c.891 others(5191): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294562 | A | AACTCTAG others(5169): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 404 | 0.0025 | 5176 | c.340 others(5193): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863941 | T | TTCACAAC others(5171): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0003 | a0003c0028 | a0003c0028t0005 | a0003c0028t0005g0188 | 1 | 318 | 0.0031 | 5178 | c.225 others(5195): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5171): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0187 | 1 | 318 | 0.0031 | 5178 | c.225 others(5195): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(5171): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 318 | 0.0031 | 5178 | c.225 others(5195): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863943 | C | CACAACCC others(5175): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0182 | 1 | 318 | 0.0031 | 5182 | c.225 others(5199): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716506 | G | GTGGTGTC others(5175): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0063 | 1 | 170 | 0.0059 | 5182 | c.86- others(5193): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(5176): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0238 | 1 | 274 | 0.0037 | 5183 | c.179 others(5202): 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(5176): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0255 | 1 | 274 | 0.0037 | 5183 | c.179 others(5202): 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(5176): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0239 | 1 | 274 | 0.0037 | 5183 | c.179 others(5202): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323136 | T | TATATATG others(5177): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 | 1 | 323 | 0.0031 | 5184 | c.-19 others(5195): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1833 | chr21 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646238 | T | TCCACCTC others(5177): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 180 | 0.0056 | 5184 | c.-35 others(5205): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(5179): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0259 | 1 | 274 | 0.0037 | 5186 | c.179 others(5205): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5180): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 251 | 0.0040 | 5187 | c.-45 others(5196): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MORN1_chr1_2316253_2396554 | 2325185 | T | TCCTTCCC others(5183): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 80 | 0.0125 | 5190 | c.125 others(5209): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(5185): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 268 | 0.0037 | 5192 | c.136 others(5209): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200734 | G | GGGGTCAG others(5185): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0012 | a0012c0023 | a0012c0023t0001 | a0012c0023t0001g0042 | 1 | 298 | 0.0034 | 5192 | c.955 others(5209): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |