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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1083): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01346.hp2 others(34): Show |
a0002a0011 | a0002c0002a0011c0013 | a0002c0002t0001a0011c0013t0001 | a0002c0002t0001g0001 a0002c0002t0001g0010 a0011c0013t0001g0001 |
37 | 373 | 0.0992 | 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 | 338 | 0.0059 | 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 | 338 | 0.0059 | 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 | 4 | 0.2500 | 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 | 135 | 0.0074 | 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 | 136 | 0.0147 | 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 | a0001c0001t0001g0200 | 1 | 195 | 0.0051 | 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 | 100 | 0.0100 | 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 | 69 | 0.0145 | 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 | a0001c0004t0005 | a0001c0004t0005g0251 | 1 | 192 | 0.0052 | 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 | a0001c0003t0006g0018 | 2 | 29 | 0.0690 | 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 | 352 | 0.0028 | 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 | 362 | 0.0028 | 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 | 219 | 0.0046 | 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 | a0001c0001t0005g0017 a0001c0001t0005g0158 a0001c0001t0005g0163 others(7): Show |
11 | 113 | 0.0973 | 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 | a0001c0001t0001g0007 a0001c0001t0001g0074 a0001c0001t0001g0142 others(4): Show |
9 | 111 | 0.0811 | 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 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0010t0001g0049 |
3 | 356 | 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 | a0020 | a0020c0024 | a0020c0024t0001 | a0020c0024t0001g0183 | 1 | 153 | 0.0065 | 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 | a0005c0013t0015g0216 | 1 | 143 | 0.0070 | 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 | a0003c0027 | a0003c0027t0012 | a0003c0027t0012g0046 | 1 | 311 | 0.0032 | 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 | a0001c0001t0003g0258 a0001c0001t0003g0260 |
2 | 93 | 0.0215 | 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 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0003 | a0001c0001t0001g0142 a0005c0005t0003g0002 |
2 | 4 | 0.5000 | 1091 | c.787 others(1106): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687476 | C | CCCCGTGA others(1084): Show |
upstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 233 | 0.0043 | 1091 | c.-18 others(1102): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1631 | chr8 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCACC others(1084): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0114 | 1 | 151 | 0.0066 | 1091 | c.63+ others(1104): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1084): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0004 | a0004c0044 | a0004c0044t0011 | a0004c0044t0011g0297 | 1 | 2 | 0.5000 | 1091 | c.273 others(1106): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1084): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(84): Show |
a0001a0002a0008others(6): Show | a0001c0003a0001c0004a0002c0002others(8): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0010others(12): Show | a0001c0003t0001g0264 a0001c0003t0002g0006 a0001c0003t0002g0012 others(72): Show |
87 | 88 | 0.9886 | 1091 | c.273 others(1106): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1084): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02615.hp2 others(4): Show |
a0003a0031a0040others(1): Show | a0003c0014a0031c0070a0040c0033others(1): Show | a0003c0014t0003a0031c0070t0001a0040c0033t0003others(1): Show | a0003c0014t0003g0314 a0003c0014t0003g0322 a0003c0014t0003g0324 others(4): Show |
7 | 8 | 0.8750 | 1091 | c.273 others(1106): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1084): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0036 | a0036c0057 | a0036c0057t0001 | a0036c0057t0001g0138 | 1 | 2 | 0.5000 | 1091 | c.273 others(1106): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1084): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02129.hp2 NA18940.hp1 others(14): Show |
a0005a0012a0017others(3): Show | a0005c0006a0012c0016a0017c0024others(4): Show | a0005c0006t0001a0012c0016t0001a0017c0024t0001others(4): Show | a0005c0006t0001g0005 a0005c0006t0001g0022 a0005c0006t0001g0255 others(10): Show |
17 | 18 | 0.9444 | 1091 | c.273 others(1106): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1084): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0033 | 1 | 2 | 0.5000 | 1091 | c.273 others(1106): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | AATATATG others(1084): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0011 | 1 | 177 | 0.0056 | 1091 | c.342 others(1112): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | AATATATG others(1084): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0068 | 1 | 177 | 0.0056 | 1091 | c.342 others(1112): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500891 | G | GTGTGTAG others(1084): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0088 | a0003c0088t0001 | a0003c0088t0001g0024 | 1 | 290 | 0.0034 | 1091 | c.268 others(1110): 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(1084): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0225 | 1 | 284 | 0.0035 | 1091 | c.268 others(1110): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113263068 | C | CGGATCTG others(1084): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0305 | 1 | 381 | 0.0026 | 1091 | c.218 others(1108): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113263068 | C | CGGATCTG others(1084): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0328 | 1 | 381 | 0.0026 | 1091 | c.218 others(1108): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1084): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 67 | 0.0149 | 1091 | c.218 others(1108): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1084): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0330 | 1 | 67 | 0.0149 | 1091 | c.218 others(1108): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113263139 | G | GCTGATGG others(1084): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0332 | 1 | 67 | 0.0149 | 1091 | c.218 others(1108): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1084): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0034 | a0034c0184 | a0034c0184t0003 | a0034c0184t0003g0252 | 1 | 98 | 0.0102 | 1091 | c.118 others(1110): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1084): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0030 | a0030c0173 | a0030c0173t0001 | a0030c0173t0001g0244 | 1 | 98 | 0.0102 | 1091 | c.118 others(1110): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2377913 | C | CATGGAGG others(1084): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0266 | 1 | 190 | 0.0053 | 1091 | c.215 others(1108): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | chr7 | TogoVar | |||||||
EIF3B_chr7_2349827_2385745 | 2377913 | C | CATGGAGG others(1084): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0013 | 1 | 190 | 0.0053 | 1091 | c.215 others(1108): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | chr7 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218284 | A | ACCCCCAA others(1084): Show |
downstream_gene_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 73 | 0.0137 | 1091 | c.*27 others(1102): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1115 | chr8 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294620 | C | CCACCCAC others(1084): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 326 | 0.0031 | 1091 | c.105 others(1108): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(1084): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0136 | 1 | 25 | 0.0400 | 1091 | c.206 others(1112): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(1084): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0005 | a0005c0012 | a0005c0012t0002 | a0005c0012t0002g0006 | 1 | 5 | 0.2000 | 1091 | c.-41 others(1106): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997508 | G | GGGGGCGG others(1084): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0007 | a0007c0009 | a0007c0009t0017 | a0007c0009t0017g0366 | 1 | 347 | 0.0029 | 1091 | c.-19 others(1102): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 162 | chr6 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055108 | A | AGAGGGAT others(1084): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 217 | 0.0046 | 1091 | c.193 others(1110): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055108 | A | AGAGGGAT others(1084): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 217 | 0.0046 | 1091 | c.193 others(1110): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar |