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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFAP74_chr1_1916957_2008786 | 1929391 | A | ACAGGTCT others(1086): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0052 | 1 | 278 | 0.0036 | 1093 | c.328 others(1110): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1086): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0038 | a0038c0218 | a0038c0218t0001 | a0038c0218t0001g0123 | 1 | 252 | 0.0040 | 1093 | c.118 others(1112): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1086): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0006 | a0006c0168 | a0006c0168t0001 | a0006c0168t0001g0171 | 1 | 252 | 0.0040 | 1093 | c.118 others(1112): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120414 | A | AGGAAATG others(1086): Show |
intron_variant | MODIFIER | NA18957.hp2 NA19068.hp2 |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0107a0002c0003t0009g0108 | 2 | 368 | 0.0054 | 1093 | c.353 others(1108): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
LDLRAD3_chr11_35939062_36237136 | 36055106 | A | ATAGAGGG others(1086): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02300.hp2 HG02523.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089a0001c0002t0001g0090a0001c0002t0001g0130 | 3 | 236 | 0.0127 | 1093 | c.193 others(1112): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1086): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0014 | 1 | 236 | 0.0042 | 1093 | c.193 others(1112): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1086): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02895.hp1 HG02922.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0161a0001c0001t0005g0044a0001c0001t0008g0143others(2): Show | 5 | 236 | 0.0212 | 1093 | c.193 others(1112): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1086): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0013a0001c0002t0004g0015 | 2 | 236 | 0.0085 | 1093 | c.193 others(1112): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055112 | A | AGGGATAG others(1086): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 236 | 0.0042 | 1093 | c.193 others(1112): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144233382 | A | ACCCACCA others(1086): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 140 | 0.0071 | 1093 | c.133 others(1112): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MROH1_chr8_144143016_144266926 | 144233418 | A | ACCCACCA others(1086): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0100 | 1 | 140 | 0.0071 | 1093 | c.133 others(1112): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1086): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0071 | a0071c0101 | a0071c0101t0001 | a0071c0101t0001g0093 | 1 | 228 | 0.0044 | 1093 | c.252 others(1112): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1086): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02622.hp2 HG06807.hp2 others(3): Show |
a0029a0034a0047others(3): Show | a0029c0054a0034c0124a0047c0048others(3): Show | a0029c0054t0002a0034c0124t0002a0047c0048t0001others(3): Show | a0029c0054t0002g0080a0034c0124t0002g0015a0047c0048t0001g0099others(3): Show | 6 | 228 | 0.0263 | 1093 | c.252 others(1112): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 92369 | G | GGCGCGGG others(1086): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0022 | a0022c0046 | a0022c0046t0047 | a0022c0046t0047g0180 | 1 | 210 | 0.0048 | 1093 | c.45+ others(1104): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SAMD11_chr1_918923_949574 | 934293 | A | AGGCGGCT others(1086): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0171 | 1 | 434 | 0.0023 | 1093 | c.843 others(1110): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934476 | C | CATATATA others(1086): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 324 | 0.0031 | 1093 | c.115 others(1110): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1086): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0325 | 1 | 372 | 0.0027 | 1093 | c.749 others(1108): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(1086): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0168 | 1 | 174 | 0.0058 | 1093 | c.41- others(1110): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1086): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0343 | 1 | 394 | 0.0025 | 1093 | c.129 others(1110): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1086): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 394 | 0.0025 | 1093 | c.129 others(1110): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ULK1_chr12_131889622_131928150 | 131917251 | G | GGAGGCTG others(1086): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0006 | a0001c0006t0029 | a0001c0006t0029g0184 | 1 | 344 | 0.0029 | 1093 | c.218 others(1110): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975241 | T | TTATAAAT others(1087): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 306 | 0.0033 | 1094 | c.130 others(1113): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32145514 | A | ATATTATA others(1087): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0047 | 1 | 398 | 0.0025 | 1094 | c.*40 others(1105): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3491 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939884 | A | AAGAAAGA others(1087): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0203 | 1 | 258 | 0.0039 | 1094 | c.403 others(1109): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1087): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0044 | a0044c0067 | a0044c0067t0001 | a0044c0067t0001g0127 | 1 | 384 | 0.0026 | 1094 | c.273 others(1109): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1087): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0009 | a0009c0053 | a0009c0053t0001 | a0009c0053t0001g0220 | 1 | 278 | 0.0036 | 1094 | c.328 others(1111): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929386 | A | AGGGGACA others(1087): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0003 | a0003c0015 | a0003c0015t0007 | a0003c0015t0007g0244 | 1 | 278 | 0.0036 | 1094 | c.328 others(1111): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
COL5A1_chr9_134636803_134849843 | 134729536 | A | ATGCGGGC others(1087): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 272 | 0.0037 | 1094 | c.925 others(1109): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 6/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89588075 | T | TACCCGCG others(1087): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 348 | 0.0029 | 1094 | c.928 others(1109): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CTU2_chr16_88701503_88720396 | 88712921 | C | CCCCCTTC others(1087): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0175 | 1 | 418 | 0.0024 | 1094 | c.737 others(1107): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CTU2_chr16_88701503_88720396 | 88713210 | T | TGAGAGCC others(1087): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0054 | 1 | 418 | 0.0024 | 1094 | c.738 others(1107): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DDX51_chr12_132131594_132149319 | 132149203 | G | GGTGAGTG others(1087): Show |
upstream_gene_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0003 | 1 | 334 | 0.0030 | 1094 | c.-49 others(1105): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4885 | chr12 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478086 | G | GGGGAAAA others(1087): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0010 | 1 | 88 | 0.0114 | 1094 | c.158 others(1111): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DIRAS1_chr19_2709567_2726372 | 2713405 | T | TCACCTCC others(1087): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0078 | 1 | 412 | 0.0024 | 1094 | c.*38 others(1105): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1161 | chr19 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557403 | T | TATATATT others(1087): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 350 | 0.0029 | 1094 | c.94- others(1107): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
INS_chr11_2154779_2166209 | 2161579 | G | GACCCCTG others(1087): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 376 | 0.0027 | 1094 | c.-43 others(1103): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 371 | chr11 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1087): Show |
upstream_gene_variant | MODIFIER | HG01074.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 422 | 0.0024 | 1094 | c.-29 others(1105): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144233363 | C | CCTCCCCC others(1087): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 140 | 0.0071 | 1094 | c.133 others(1113): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(1087): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0235 | 1 | 384 | 0.0026 | 1094 | c.160 others(1111): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
NOC4L_chr12_132139457_132157468 | 132149203 | G | GGTGAGTG others(1087): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0193 | 1 | 294 | 0.0034 | 1094 | c.901 others(1109): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1087): Show |
downstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 456 | 0.0022 | 1094 | c.*31 others(1105): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1087): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0041 | 2 | 456 | 0.0044 | 1094 | c.*31 others(1105): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88712921 | C | CCCCCTTC others(1087): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0023 | a0023c0037 | a0023c0037t0012 | a0023c0037t0012g0269 | 1 | 282 | 0.0036 | 1094 | c.*26 others(1105): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2416 | chr16 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88713210 | T | TGAGAGCC others(1087): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0038 | 1 | 282 | 0.0036 | 1094 | c.*23 others(1105): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2127 | chr16 | TogoVar | ||||||
RABGAP1L_chr1_174154520_175000308 | 174937747 | A | AGTGCAGT others(1087): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0101 | 1 | 272 | 0.0037 | 1094 | c.234 others(1115): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RABGAP1L_chr1_174154520_175000308 | 174937747 | A | AGTGCAGT others(1087): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(91): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0008 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(19): Show | a0001c0001t0002g0086a0001c0001t0002g0087a0001c0001t0002g0088others(91): Show | 94 | 272 | 0.3456 | 1094 | c.234 others(1115): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RABGAP1L_chr1_174154520_175000308 | 174937747 | A | AGTGCAGT others(1087): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(158): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(158): Show | 161 | 272 | 0.5919 | 1094 | c.234 others(1115): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RABGAP1L_chr1_174154520_175000308 | 174937747 | A | AGTGCAGT others(1087): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0165 | 1 | 272 | 0.0037 | 1094 | c.234 others(1115): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RABGAP1L_chr1_174154520_175000308 | 174937747 | A | AGTGCAGT others(1087): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02818.hp1 |
a0002 | a0002c0003 | a0002c0003t0015 | a0002c0003t0015g0084a0002c0003t0015g0085 | 2 | 272 | 0.0074 | 1094 | c.234 others(1115): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
RABGAP1L_chr1_174154520_175000308 | 174937759 | C | CGATCTCA others(1087): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 272 | 0.0037 | 1094 | c.234 others(1115): Show |
RABGAP1L | ENSG00000152061.24 | transcript | ENST00000681986.1 | protein_coding | 19/25 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |