| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ADCK5_chr8_144369047_144398242 | 144380654 | C | CAGGATTA others(965): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 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 | ||||||
| ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(965): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0013 | 1 | 218 | 0.0046 | 972 | c.108 others(989): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
| AHRR_chr5_316714_443285 | 318049 | C | CCCTCCCC others(965): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0008 | a0008c0007 | a0008c0007t0007 | a0008c0007t0007g0247 | 1 | 268 | 0.0037 | 972 | c.-37 others(983): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3664 | chr5 | TogoVar | |||||||
| AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(965): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0000 | 1 | 416 | 0.0024 | 972 | c.*10 others(985): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
| ARHGEF18_chr19_7343937_7477478 | 7450694 | G | GTCCGTTT others(965): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0021 | a0001c0021t0006 | a0001c0021t0006g0088 | 1 | 298 | 0.0034 | 972 | c.173 others(989): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| ARHGEF18_chr19_7343937_7477478 | 7450694 | G | GTCCGTTT others(965): Show |
intron_variant | MODIFIER | HG03834.hp1 NA19000.hp1 |
a0001a0002 | a0001c0019a0002c0036 | a0001c0019t0006a0002c0036t0006 | a0001c0019t0006g0063 a0002c0036t0006g0132 |
2 | 298 | 0.0067 | 972 | c.173 others(989): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 15/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| ATP9B_chr18_79064394_79383283 | 79309034 | C | CGGAGGAG others(965): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0168 | 1 | 298 | 0.0034 | 972 | c.177 others(991): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | chr18 | TogoVar | |||||||
| AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(965): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 972 | c.*36 others(983): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
| CACNA1H_chr16_1148106_1226768 | 1185756 | G | GGCGTGCG others(965): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0037 | a0037c0077 | a0037c0077t0001 | a0037c0077t0001g0210 | 1 | 338 | 0.0030 | 972 | c.300 others(989): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(965): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0263 | 1 | 284 | 0.0035 | 972 | c.411 others(989): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
| CEP72_chr5_607340_658553 | 650650 | T | TGTGACTG others(965): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 91 | 0.0110 | 972 | c.177 others(991): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
| CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(965): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 320 | 0.0031 | 972 | c.380 others(989): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(965): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 1 | 320 | 0.0031 | 972 | c.380 others(989): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(965): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 320 | 0.0031 | 972 | c.380 others(989): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| COMMD9_chr11_36267292_36294424 | 36287120 | T | TACAATGT others(965): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 448 | 0.0022 | 972 | c.51+ others(987): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
| CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(965): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 | 1 | 396 | 0.0025 | 972 | c.513 others(989): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
| DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(965): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0003 | a0003c0023 | a0003c0023t0001 | a0003c0023t0001g0008 | 1 | 320 | 0.0031 | 972 | c.*39 others(983): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050237 | T | TCCCTACC others(965): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 400 | 0.0025 | 972 | c.102 others(987): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050237 | T | TCCCTACC others(965): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 400 | 0.0025 | 972 | c.102 others(987): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| ENTPD2_chr9_137043107_137059061 | 137050237 | T | TCCCTACC others(965): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 400 | 0.0025 | 972 | c.102 others(987): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
| EP400_chr12_131944942_132085460 | 131998879 | A | ACTTTGTA others(965): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0021 | a0001c0021t0006 | a0001c0021t0006g0056 | 1 | 208 | 0.0048 | 972 | c.282 others(991): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(965): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0003 | 1 | 46 | 0.0217 | 972 | c.-17 others(991): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
| FLG_chr1_152297165_152330239 | 152305167 | C | CGATGGTT others(965): Show |
conservative_inframe_insertion | MODERATE | HG02451.hp2 HG03130.hp1 |
a0077a0097 | a0077c0185a0097c0139 | a0077c0185t0001a0097c0139t0001 | a0077c0185t0001g0133 a0097c0139t0001g0132 |
2 | 426 | 0.0047 | 972 | c.971 others(981): Show |
p.His others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9790/12793 | 9718/12186 | 3240/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152305366 | T | TGTCTCCT others(965): Show |
conservative_inframe_insertion | MODERATE | HG02970.hp2 | a0093 | a0093c0196 | a0093c0196t0001 | a0093c0196t0001g0138 | 1 | 426 | 0.0024 | 972 | c.951 others(981): Show |
p.Asp others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9591/12793 | 9519/12186 | 3173/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152305366 | T | TGTCTCCT others(965): Show |
conservative_inframe_insertion | MODERATE | HG02280.hp2 HG03098.hp2 HG03516.hp2 |
a0047a0076 | a0047c0062a0076c0195 | a0047c0062t0001a0076c0195t0001 | a0047c0062t0001g0135 a0047c0062t0001g0137 a0076c0195t0001g0136 |
3 | 426 | 0.0070 | 972 | c.951 others(981): Show |
p.Asp others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9591/12793 | 9519/12186 | 3173/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152305366 | T | TGTCTCCT others(965): Show |
conservative_inframe_insertion | MODERATE | NA19030.hp1 | a0135 | a0135c0194 | a0135c0194t0001 | a0135c0194t0001g0134 | 1 | 426 | 0.0024 | 972 | c.951 others(981): Show |
p.Asp others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9591/12793 | 9519/12186 | 3173/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152305366 | T | TGTCTCCT others(965): Show |
conservative_inframe_insertion | MODERATE | NA20905.hp1 | a0146 | a0146c0183 | a0146c0183t0001 | a0146c0183t0001g0123 | 1 | 426 | 0.0024 | 972 | c.951 others(981): Show |
p.Asp others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9591/12793 | 9519/12186 | 3173/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152305366 | T | TGTCTCCT others(965): Show |
conservative_inframe_insertion | MODERATE | HG02080.hp2 | a0072 | a0072c0127 | a0072c0127t0001 | a0072c0127t0001g0224 | 1 | 426 | 0.0024 | 972 | c.951 others(981): Show |
p.Asp others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9591/12793 | 9519/12186 | 3173/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152305573 | A | ATTGGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp2 HG02300.hp1 HG02572.hp1 |
a0030a0081 | a0030c0037a0081c0109 | a0030c0037t0001a0081c0109t0001 | a0030c0037t0001g0051 a0081c0109t0001g0198 |
3 | 426 | 0.0070 | 972 | c.931 others(981): Show |
p.Gln others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9384/12793 | 9312/12186 | 3104/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152305573 | A | ATTGGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | HG03041.hp2 HG03579.hp1 HG06807.hp1 others(1): Show |
a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0066 a0011c0015t0001g0238 a0011c0015t0001g0239 |
4 | 426 | 0.0094 | 972 | c.931 others(981): Show |
p.Gln others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 9384/12793 | 9312/12186 | 3104/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152305958 | T | TTCTCCTG others(965): Show |
disruptive_inframe_insertion | MODERATE | HG02055.hp1 | a0070 | a0070c0106 | a0070c0106t0001 | a0070c0106t0001g0195 | 1 | 426 | 0.0024 | 972 | c.892 others(981): Show |
p.Gly others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8999/12793 | 8927/12186 | 2976/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152305958 | T | TTCTCCTG others(965): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(90): Show |
a0002a0006a0016others(18): Show | a0002c0002a0002c0006a0002c0020others(37): Show | a0002c0002t0001a0002c0006t0001a0002c0020t0001others(37): Show | a0002c0002t0001g0007 a0002c0002t0001g0015 a0002c0002t0001g0049 others(51): Show |
93 | 426 | 0.2183 | 972 | c.892 others(981): Show |
p.Gly others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8999/12793 | 8927/12186 | 2976/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152305958 | T | TTCTCCTG others(965): Show |
disruptive_inframe_insertion | MODERATE | HG01081.hp2 HG01192.hp2 |
a0034 | a0034c0050 | a0034c0050t0001 | a0034c0050t0001g0059 | 2 | 426 | 0.0047 | 972 | c.892 others(981): Show |
p.Gly others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8999/12793 | 8927/12186 | 2976/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152305958 | T | TTCTCCTG others(965): Show |
disruptive_inframe_insertion | MODERATE | NA19043.hp2 NA20129.hp2 |
a0050 | a0050c0040 | a0050c0040t0001 | a0050c0040t0001g0044 | 2 | 426 | 0.0047 | 972 | c.892 others(981): Show |
p.Gly others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8999/12793 | 8927/12186 | 2976/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152306079 | T | TCTTCTTG others(965): Show |
conservative_inframe_insertion | MODERATE | HG01243.hp1 HG03654.hp1 NA18612.hp2 others(17): Show |
a0005a0028a0103others(2): Show | a0005c0005a0005c0138a0028c0032others(3): Show | a0005c0005t0001a0005c0138t0001a0028c0032t0001others(3): Show | a0005c0005t0001g0002 a0005c0138t0001g0125 a0028c0032t0001g0022 others(3): Show |
20 | 426 | 0.0470 | 972 | c.880 others(981): Show |
p.Glu others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8878/12793 | 8806/12186 | 2936/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | HG00597.hp1 | a0054 | a0054c0193 | a0054c0193t0001 | a0054c0193t0001g0114 | 1 | 426 | 0.0024 | 972 | c.850 others(981): Show |
p.Arg others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | HG00738.hp2 | a0057 | a0057c0164 | a0057c0164t0001 | a0057c0164t0001g0073 | 1 | 426 | 0.0024 | 972 | c.850 others(981): Show |
p.Arg others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(130): Show |
a0001a0012a0013others(32): Show | a0001c0001a0001c0004a0001c0011others(45): Show | a0001c0001t0001a0001c0004t0001a0001c0011t0001others(45): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0017 others(62): Show |
133 | 426 | 0.3122 | 972 | c.850 others(981): Show |
p.Arg others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | HG03017.hp2 | a0096 | a0096c0154 | a0096c0154t0001 | a0096c0154t0001g0095 | 1 | 426 | 0.0024 | 972 | c.850 others(981): Show |
p.Arg others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | HG02027.hp1 | a0067 | a0067c0147 | a0067c0147t0001 | a0067c0147t0001g0091 | 1 | 426 | 0.0024 | 972 | c.850 others(981): Show |
p.Arg others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | NA18961.hp1 NA19003.hp2 |
a0120a0133 | a0120c0155a0133c0173 | a0120c0155t0001a0133c0173t0001 | a0120c0155t0001g0121 a0133c0173t0001g0122 |
2 | 426 | 0.0047 | 972 | c.850 others(981): Show |
p.Arg others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152306380 | T | TTCTGGAT others(965): Show |
conservative_inframe_insertion | MODERATE | NA18986.hp2 | a0129 | a0129c0156 | a0129c0156t0001 | a0129c0156t0001g0096 | 1 | 426 | 0.0024 | 972 | c.850 others(981): Show |
p.Arg others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8577/12793 | 8505/12186 | 2835/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152306400 | C | CGGGAGGC others(965): Show |
conservative_inframe_insertion | MODERATE | HG00741.hp1 | a0058 | a0058c0153 | a0058c0153t0001 | a0058c0153t0001g0072 | 1 | 426 | 0.0024 | 972 | c.848 others(981): Show |
p.Ser others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8557/12793 | 8485/12186 | 2829/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152306538 | T | TGACCGTC others(965): Show |
conservative_inframe_insertion | MODERATE | HG03704.hp2 | a0106 | a0106c0079 | a0106c0079t0001 | a0106c0079t0001g0223 | 1 | 426 | 0.0024 | 972 | c.834 others(981): Show |
p.Gly others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8419/12793 | 8347/12186 | 2783/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152306869 | C | CGTGCCCA others(965): Show |
conservative_inframe_insertion | MODERATE | NA18948.hp1 | a0117 | a0117c0081 | a0117c0081t0001 | a0117c0081t0001g0171 | 1 | 426 | 0.0024 | 972 | c.801 others(981): Show |
p.His others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 8088/12793 | 8016/12186 | 2672/4061 | chr1 | TogoVar | |||
| FLG_chr1_152297165_152330239 | 152307223 | C | CTGATTGT others(965): Show |
conservative_inframe_insertion | MODERATE | HG02451.hp2 HG03130.hp1 |
a0077a0097 | a0077c0185a0097c0139 | a0077c0185t0001a0097c0139t0001 | a0077c0185t0001g0133 a0097c0139t0001g0132 |
2 | 426 | 0.0047 | 972 | c.766 others(981): Show |
p.Ser others(987): Show |
FLG | ENSG00000143631.11 | transcript | ENST00000368799.2 | protein_coding | 3/3 | 7734/12793 | 7662/12186 | 2554/4061 | chr1 | TogoVar | |||
| GAL3ST2_chr2_241771822_241809287 | 241807931 | T | TCCCTCCC others(965): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 314 | 0.0032 | 972 | c.*37 others(983): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3645 | chr2 | TogoVar | |||||||
| GALR1_chr18_77244848_77282900 | 77252905 | C | CCACCACC others(965): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0086 | a0001c0001t0086g0255 | 1 | 366 | 0.0027 | 972 | c.666 others(989): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| IL17REL_chr22_49986811_50017765 | 50009894 | T | TGGCGGCA others(965): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0152 | 1 | 440 | 0.0023 | 972 | c.103 others(989): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
| LAMA2_chr6_128878138_129521566 | 129385145 | G | GGAAAAAG others(965): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0018 | a0018c0036 | a0018c0036t0003 | a0018c0036t0003g0088 | 1 | 88 | 0.0114 | 972 | c.507 others(991): Show |
LAMA2 | ENSG00000196569.14 | transcript | ENST00000421865.3 | protein_coding | 35/64 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |