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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEL1L2_chr20_13844247_13995614 | 13934345 | T | TATATATA others(1082): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 324 | 0.0031 | 1089 | c.115 others(1106): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432024 | G | GGTGGTTA others(1082): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0358 | 1 | 376 | 0.0027 | 1089 | c.101 others(1106): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432042 | G | GGTGGATA others(1082): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0106 | 1 | 376 | 0.0027 | 1089 | c.101 others(1106): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(1082): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0123 | 1 | 376 | 0.0027 | 1089 | c.101 others(1106): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249402 | T | TGAAGGAG others(1082): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0050 | 1 | 214 | 0.0047 | 1089 | c.206 others(1108): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1273174 | G | GCCATCCA others(1082): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0363 | 1 | 392 | 0.0026 | 1089 | c.228 others(1106): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157312409 | C | CTGGCCTC others(1082): Show |
intron_variant | MODIFIER | HG02132.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0150 | 2 | 344 | 0.0058 | 1089 | c.327 others(1106): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1082): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0184a0001c0001t0007g0166 | 2 | 372 | 0.0054 | 1089 | c.749 others(1104): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TRIM28_chr19_58539064_58555715 | 58539222 | A | ACCTGCTT others(1082): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 402 | 0.0025 | 1089 | c.-55 others(1100): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 4841 | chr19 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917328 | T | TGGGGGTT others(1082): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0017 | 1 | 344 | 0.0029 | 1089 | c.218 others(1104): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1082): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 246 | 0.0041 | 1089 | c.-10 others(1106): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ZNF512B_chr20_63951704_63974930 | 63970942 | C | CCTTCCTT others(1082): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0134 | 1 | 356 | 0.0028 | 1089 | c.-11 others(1100): Show |
ZNF512B | ENSG00000196700.9 | transcript | ENST00000369888.6 | protein_coding | 1013 | chr20 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113424685 | T | TATCCACC others(1083): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0052 | a0052c0067 | a0052c0067t0004 | a0052c0067t0004g0261 | 1 | 262 | 0.0038 | 1090 | c.775 others(1105): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1083): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02257.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003a0001c0002t0001g0019 | 2 | 326 | 0.0061 | 1090 | c.327 others(1107): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181720 | C | CACATACA others(1083): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0417 | 1 | 460 | 0.0022 | 1090 | c.193 others(1107): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP131_chr17_81184596_81227965 | 81207935 | C | CCATACAC others(1083): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0258 | 1 | 384 | 0.0026 | 1090 | c.273 others(1105): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1083): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0124 | 1 | 278 | 0.0036 | 1090 | c.328 others(1107): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500919 | T | TGTGTTGG others(1083): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0020 | a0002c0020t0003 | a0002c0020t0003g0156 | 1 | 292 | 0.0034 | 1090 | c.268 others(1109): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45500919 | T | TGTGTTGG others(1083): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0005 | a0005c0058 | a0005c0058t0001 | a0005c0058t0001g0165 | 1 | 292 | 0.0034 | 1090 | c.268 others(1109): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647275 | A | ACAATCCT others(1083): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 276 | 0.0036 | 1090 | c.*51 others(1101): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1931 | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647275 | A | ACAATCCT others(1083): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG02451.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0010a0003c0003t0001 | a0001c0001t0001g0044a0001c0001t0001g0057a0001c0001t0010g0141others(2): Show | 5 | 276 | 0.0181 | 1090 | c.*51 others(1101): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1931 | chr15 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1083): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0064 | a0064c0115 | a0064c0115t0003 | a0064c0115t0003g0250 | 1 | 252 | 0.0040 | 1090 | c.118 others(1109): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DST_chr6_56452996_56959830 | 56864497 | T | TGGAAAGT others(1083): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0032 | a0032c0051 | a0032c0051t0001 | a0032c0051t0001g0011 | 1 | 84 | 0.0119 | 1090 | c.418 others(1109): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 3/103 | chr6 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1083): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03225.hp1 HG03225.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0020a0002c0002t0008g0170 | 5 | 400 | 0.0125 | 1090 | c.-5+ others(1103): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGG others(1083): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0172 | 1 | 400 | 0.0025 | 1090 | c.-5+ others(1103): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(1083): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0028 | a0028c0053 | a0028c0053t0003 | a0028c0053t0003g0079 | 1 | 88 | 0.0114 | 1090 | c.507 others(1109): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1083): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 HG03704.hp2 NA19009.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 3 | 422 | 0.0071 | 1090 | c.-29 others(1101): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1083): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 422 | 0.0024 | 1090 | c.-29 others(1101): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1083): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01346.hp2 others(35): Show |
a0002a0012 | a0002c0002a0012c0014 | a0002c0002t0001a0012c0014t0001 | a0002c0002t0001g0001a0002c0002t0001g0010a0012c0014t0001g0001 | 38 | 422 | 0.0901 | 1090 | c.-29 others(1101): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1083): Show |
upstream_gene_variant | MODIFIER | HG02735.hp2 NA20905.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 2 | 422 | 0.0047 | 1090 | c.-29 others(1101): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1083): Show |
upstream_gene_variant | MODIFIER | HG02080.hp2 NA19076.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 2 | 422 | 0.0047 | 1090 | c.-29 others(1101): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1083): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 208 | 0.0048 | 1090 | c.279 others(1105): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1083): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 456 | 0.0022 | 1090 | c.*31 others(1101): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1083): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 456 | 0.0044 | 1090 | c.*31 others(1101): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1083): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 304 | 0.0033 | 1090 | c.347 others(1105): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1083): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0136 | 1 | 334 | 0.0030 | 1090 | c.45- others(1105): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RPH3AL_chr17_207389_357807 | 355940 | A | AACAGTCG others(1083): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0130 | 1 | 133 | 0.0075 | 1090 | c.-34 others(1101): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 3134 | chr17 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(1083): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0252 | 1 | 280 | 0.0036 | 1090 | c.89- others(1103): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(1083): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0019 | 2 | 186 | 0.0108 | 1090 | c.-50 others(1101): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(1083): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 420 | 0.0024 | 1090 | c.*32 others(1101): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35914290 | G | GTGTTTTT others(1083): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 420 | 0.0024 | 1090 | c.*35 others(1101): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2605 | chr9 | TogoVar | ||||||
SUFU_chr10_102498972_102638535 | 102637512 | A | ATATTATA others(1083): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 268 | 0.0037 | 1090 | c.*73 others(1101): Show |
SUFU | ENSG00000107882.12 | transcript | ENST00000369902.8 | protein_coding | 3978 | chr10 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1083): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 HG03831.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0017a0001c0001t0005g0158a0001c0001t0005g0163others(7): Show | 11 | 372 | 0.0296 | 1090 | c.749 others(1105): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1083): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0072a0001c0001t0001g0142others(4): Show | 9 | 372 | 0.0242 | 1090 | c.749 others(1105): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TP73_chr1_3647516_3741201 | 3693988 | C | CTCCGCCC others(1083): Show |
intron_variant | MODIFIER | HG02965.hp1 NA19240.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0010t0001 | a0001c0001t0001g0048a0001c0001t0001g0080a0001c0010t0001g0049 | 3 | 358 | 0.0084 | 1090 | c.186 others(1109): Show |
TP73 | ENSG00000078900.16 | transcript | ENST00000378295.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TTLL8_chr22_50013575_50063298 | 50028765 | C | CCTCGTAA others(1083): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0014 | a0014c0024 | a0014c0024t0001 | a0014c0024t0001g0182 | 1 | 224 | 0.0045 | 1090 | c.225 others(1109): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
ZNF236_chr18_76817557_76977901 | 76967266 | T | TATTTGGT others(1083): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0005 | a0005c0013 | a0005c0013t0015 | a0005c0013t0015g0219 | 1 | 346 | 0.0029 | 1090 | c.542 others(1107): Show |
ZNF236 | ENSG00000130856.18 | transcript | ENST00000320610.14 | protein_coding | 30/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133111685 | C | CCTCCCTC others(1084): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0003 | a0003c0028 | a0003c0028t0012 | a0003c0028t0012g0046 | 1 | 368 | 0.0027 | 1091 | c.401 others(1108): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AHRR_chr5_316714_443285 | 318069 | T | TCCCTTGC others(1084): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258a0001c0001t0003g0260 | 2 | 268 | 0.0075 | 1091 | c.-37 others(1102): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3644 | chr5 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1084): Show |
intron_variant | MODIFIER | HG02965.hp1 NA19240.hp1 |
a0001a0008 | a0001c0001a0008c0005 | a0001c0001t0001a0008c0005t0003 | a0001c0001t0001g0142a0008c0005t0003g0002 | 2 | 238 | 0.0084 | 1091 | c.787 others(1106): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar |