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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HACE1_chr6_104723094_104864919 | 104831949 | AGAAGAGA others(24): Show |
A | intron_variant | MODIFIER | HG02965.hp1 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 a0001c0002t0001g0114 |
2 | 344 | 0.0058 | -31 | c.534 others(48): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 6/23 | chr6 | TogoVar | |||||||
HARBI1_chr11_46597861_46622227 | 46606897 | AGGAACTC others(24): Show |
A | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 256 | 0.0039 | -31 | c.671 others(48): Show |
HARBI1 | ENSG00000180423.4 | transcript | ENST00000326737.3 | protein_coding | 2/2 | chr11 | TogoVar | |||||||
HAT1_chr2_171917461_171988686 | 171974190 | AAAGAAAA others(24): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00609.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(54): Show |
57 | 324 | 0.1759 | -31 | c.824 others(48): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAT1_chr2_171917461_171988686 | 171977539 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0283 a0001c0001t0001g0319 |
2 | 310 | 0.0065 | -31 | c.975 others(48): Show |
HAT1 | ENSG00000128708.13 | transcript | ENST00000264108.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HAUS8_chr19_17044729_17080452 | 17055144 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG02027.hp1 NA21309.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0002 | a0001c0002t0001g0115 a0002c0001t0002g0270 |
2 | 320 | 0.0063 | -31 | c.787 others(46): Show |
HAUS8 | ENSG00000131351.15 | transcript | ENST00000253669.10 | protein_coding | 9/10 | chr19 | TogoVar | |||||||
HCFC1R1_chr16_3017625_3028942 | 3022364 | AAAGAATC others(24): Show |
A | downstream_gene_variant | MODIFIER | NA18968.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 410 | 0.0024 | -31 | c.*46 others(40): Show |
HCFC1R1 | ENSG00000103145.11 | transcript | ENST00000248089.8 | protein_coding | 260 | chr16 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45372060 | TTATATTA others(24): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG02129.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 a0001c0001t0003g0101 a0001c0001t0003g0102 |
3 | 215 | 0.0140 | -31 | c.123 others(52): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45375297 | CATGATAT others(24): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0217 | 1 | 218 | 0.0046 | -31 | c.123 others(52): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45375433 | TATATATA others(24): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0081 | 1 | 213 | 0.0047 | -31 | c.123 others(52): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45375690 | GATCATAT others(24): Show |
G | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 134 | 0.0075 | -31 | c.123 others(52): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45375710 | ATTATATA others(24): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 214 | 0.0047 | -31 | c.123 others(52): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HCN1_chr5_45249948_45701380 | 45375871 | TATATTTT others(24): Show |
T | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 224 | 0.0045 | -31 | c.123 others(52): Show |
HCN1 | ENSG00000164588.8 | transcript | ENST00000303230.6 | protein_coding | 4/7 | chr5 | TogoVar | |||||||
HDGF_chr1_156737109_156756675 | 156746123 | CCTGGCCT others(24): Show |
C | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 340 | 0.0029 | -31 | c.88- others(44): Show |
HDGF | ENSG00000143321.19 | transcript | ENST00000357325.10 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
HERC1_chr15_63603618_63838948 | 63737427 | GATATATA others(24): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG03516.hp2 NA19043.hp1 others(1): Show |
a0002 | a0002c0018a0002c0019 | a0002c0018t0002a0002c0019t0002 | a0002c0018t0002g0003 a0002c0018t0002g0004 a0002c0019t0002g0085 others(1): Show |
4 | 214 | 0.0187 | -31 | c.252 others(50): Show |
HERC1 | ENSG00000103657.14 | transcript | ENST00000443617.7 | protein_coding | 12/77 | chr15 | TogoVar | |||||||
HEXD_chr17_82413347_82447645 | 82433112 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01071.hp1 others(56): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0189 a0001c0001t0001g0234 a0001c0001t0001g0274 others(33): Show |
59 | 397 | 0.1486 | -31 | c.283 others(46): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HEXD_chr17_82413347_82447645 | 82433124 | ATATATTT others(24): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02895.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0024 | 2 | 389 | 0.0051 | -31 | c.283 others(46): Show |
HEXD | ENSG00000169660.17 | transcript | ENST00000327949.15 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99656841 | AAGGAAGG others(24): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0234 | 1 | 356 | 0.0028 | -31 | c.903 others(46): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99656845 | AAGGAAGG others(24): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(45): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0007a0002c0001others(3): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0035others(9): Show | a0001c0002t0003g0029 a0001c0002t0003g0217 a0001c0002t0004g0224 others(42): Show |
48 | 366 | 0.1311 | -31 | c.903 others(46): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99656861 | AAGGAAGG others(24): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01192.hp1 HG01255.hp2 others(11): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0004 | a0001c0002t0004a0001c0003t0001a0001c0003t0002others(3): Show | a0001c0002t0004g0152 a0001c0003t0001g0031 a0001c0003t0002g0100 others(11): Show |
14 | 371 | 0.0377 | -31 | c.903 others(46): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HIGD2B_chr15_72670798_72691182 | 72675643 | GGCCTGGG others(24): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG01928.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0074 others(2): Show |
9 | 434 | 0.0207 | -31 | c.*38 others(40): Show |
HIGD2B | ENSG00000175202.6 | transcript | ENST00000311755.6 | protein_coding | 154 | chr15 | TogoVar | |||||||
HIKESHI_chr11_86297240_86350943 | 86307351 | TATATATT others(24): Show |
T | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 395 | 0.0025 | -31 | c.268 others(46): Show |
HIKESHI | ENSG00000149196.17 | transcript | ENST00000278483.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
HINT1_chr5_131154027_131170256 | 131168380 | CGGGAGGC others(24): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 6 | 422 | 0.0142 | -31 | c.-32 others(42): Show |
HINT1 | ENSG00000169567.13 | transcript | ENST00000304043.10 | protein_coding | 3125 | chr5 | TogoVar | |||||||
HIP1R_chr12_122830457_122867961 | 122850537 | GGGGGGGC others(24): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG03209.hp2 NA19003.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0002 | a0001c0001t0001g0126 a0001c0001t0001g0127 a0003c0003t0002g0082 |
3 | 345 | 0.0087 | -31 | c.439 others(46): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HIP1R_chr12_122830457_122867961 | 122850592 | GCTGGGTG others(24): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG01069.hp2 others(36): Show |
a0002a0015a0021others(1): Show | a0002c0002a0015c0019a0021c0016others(1): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0015others(3): Show | a0002c0002t0001g0002 a0002c0002t0001g0010 a0002c0002t0001g0013 others(26): Show |
39 | 346 | 0.1127 | -31 | c.439 others(46): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 5/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HIP1R_chr12_122830457_122867961 | 122853216 | TTGTCAGG others(24): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01099.hp1 others(4): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0003a0001c0005t0007a0002c0002t0001 | a0001c0005t0003g0104 a0001c0005t0007g0103 a0002c0002t0001g0022 others(3): Show |
7 | 280 | 0.0250 | -31 | c.578 others(46): Show |
HIP1R | ENSG00000130787.14 | transcript | ENST00000253083.9 | protein_coding | 7/31 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
HIVEP1_chr6_12007312_12169999 | 12168109 | GTATATTA others(24): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02886.hp2 others(4): Show |
a0006a0020a0031 | a0006c0009a0020c0026a0031c0030 | a0006c0009t0001a0020c0026t0001a0031c0030t0001 | a0006c0009t0001g0076 a0006c0009t0001g0155 a0006c0009t0001g0199 others(4): Show |
7 | 320 | 0.0219 | -31 | c.*36 others(42): Show |
HIVEP1 | ENSG00000095951.17 | transcript | ENST00000379388.7 | protein_coding | 3111 | chr6 | TogoVar | |||||||
HJURP_chr2_233831702_233859535 | 233855767 | ACCAATCC others(24): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp2 | a0016 | a0016c0033 | a0016c0033t0001 | a0016c0033t0001g0079 | 1 | 448 | 0.0022 | -31 | c.-12 others(42): Show |
HJURP | ENSG00000123485.12 | transcript | ENST00000411486.7 | protein_coding | 1233 | chr2 | TogoVar | |||||||
HMBOX1_chr8_28885395_29058262 | 28906629 | CCTCAGGC others(24): Show |
C | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0067 | 1 | 342 | 0.0029 | -31 | c.-58 others(50): Show |
HMBOX1 | ENSG00000147421.18 | transcript | ENST00000287701.15 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HMCN1_chr1_185729391_186195949 | 186086791 | TAGATGAT others(24): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp2 HG01192.hp1 others(25): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0015a0003c0007others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0015t0001others(16): Show | a0001c0001t0001g0035 a0001c0001t0001g0052 a0001c0001t0001g0087 others(25): Show |
28 | 48 | 0.5833 | -31 | c.904 others(48): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | chr1 | TogoVar | |||||||
HMCN1_chr1_185729391_186195949 | 186086795 | TGATAGAT others(24): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0085 | 1 | 88 | 0.0114 | -31 | c.904 others(48): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 58/106 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HMCN1_chr1_185729391_186195949 | 186131290 | CATTGATT others(24): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0038 | a0038c0013 | a0038c0013t0001 | a0038c0013t0001g0056 | 1 | 90 | 0.0111 | -31 | c.132 others(50): Show |
HMCN1 | ENSG00000143341.12 | transcript | ENST00000271588.9 | protein_coding | 85/106 | chr1 | TogoVar | |||||||
HNRNPA1L2_chr13_52637431_52648773 | 52647392 | ATTTTTTT others(24): Show |
A | downstream_gene_variant | MODIFIER | NA19072.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 277 | 0.0036 | -31 | c.*39 others(42): Show |
HNRNPA1L2 | ENSG00000139675.13 | transcript | ENST00000357495.5 | protein_coding | 3620 | chr13 | TogoVar | |||||||
HNRNPCL1_chr1_12842377_12853720 | 12848006 | GCGTTTCC others(24): Show |
G | frameshift_variant | HIGH | NA19057.hp1 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0019 | 1 | 352 | 0.0028 | -31 | c.253 others(38): Show |
p.Ala others(4): Show |
HNRNPCL1 | ENSG00000179172.10 | transcript | ENST00000317869.7 | protein_coding | 2/2 | 504/1134 | 253/882 | 85/293 | chr1 | TogoVar | |||
HP1BP3_chr1_20735266_20792307 | 20787365 | CGCGTGGG others(24): Show |
C | upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 376 | 0.0027 | -31 | c.-30 others(40): Show |
HP1BP3 | ENSG00000127483.19 | transcript | ENST00000438032.6 | protein_coding | 59 | chr1 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10335983 | CTGTAAAT others(24): Show |
C | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0152 | 1 | 248 | 0.0040 | -31 | c.-11 others(52): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10336071 | CTCTGCTG others(24): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG02976.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0113 a0001c0004t0004g0152 |
2 | 312 | 0.0064 | -31 | c.-11 others(52): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10376839 | CCGTATTG others(24): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00558.hp2 others(128): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(128): Show |
131 | 309 | 0.4239 | -31 | c.-11 others(52): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPF1_chr4_169724470_169762944 | 169730126 | TCTCTCCC others(24): Show |
T | intron_variant | MODIFIER | NA19059.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 | 1 | 318 | 0.0031 | -31 | c.910 others(46): Show |
HPF1 | ENSG00000056050.7 | transcript | ENST00000393381.3 | protein_coding | 7/7 | chr4 | TogoVar | |||||||
HPGDS_chr4_94293535_94347836 | 94340297 | CTTTCTTT others(24): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp1 HG01168.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0114 a0001c0001t0001g0115 others(3): Show |
9 | 300 | 0.0300 | -31 | c.-10 others(48): Show |
HPGDS | ENSG00000163106.11 | transcript | ENST00000295256.10 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
HPSE2_chr10_98452077_99240852 | 99169504 | CAAAAAAA others(24): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02965.hp2 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0002c0002t0002 | a0001c0001t0003g0027 a0001c0001t0005g0028 a0002c0002t0002g0026 |
3 | 4 | 0.7500 | -31 | c.449 others(50): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 2/11 | chr10 | TogoVar | |||||||
HSD11B1_chr1_209699846_209739929 | 209737637 | TTTTGTTT others(24): Show |
T | downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 397 | 0.0025 | -31 | c.*31 others(42): Show |
HSD11B1 | ENSG00000117594.10 | transcript | ENST00000367027.5 | protein_coding | 2709 | chr1 | TogoVar | |||||||
HSF1_chr8_144286604_144319720 | 144313705 | CCGCCGCC others(24): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(87): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0006a0005c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(57): Show |
90 | 314 | 0.2866 | -31 | c.124 others(47): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HSPB9_chr17_42117804_42128352 | 42125812 | CTGGGTTG others(24): Show |
C | downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 332 | 0.0030 | -31 | c.*24 others(42): Show |
HSPB9 | ENSG00000260325.2 | transcript | ENST00000565659.2 | protein_coding | 2461 | chr17 | TogoVar | |||||||
HTR1F_chr3_87787706_87998839 | 87979043 | GGAGGGAG others(24): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 245 | 0.0041 | -31 | c.-42 others(50): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8260203 | CCGCTAAT others(24): Show |
C | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 272 | 0.0037 | -31 | c.-80 others(48): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
IDI1_chr10_1034419_1054119 | 1046582 | CTCCACTG others(24): Show |
C | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 436 | 0.0023 | -31 | c.140 others(48): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
IDI1_chr10_1034419_1054119 | 1046612 | CTCCACTG others(24): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(14): Show |
74 | 242 | 0.3058 | -31 | c.140 others(48): Show |
IDI1 | ENSG00000067064.13 | transcript | ENST00000381344.8 | protein_coding | 1/4 | chr10 | TogoVar | |||||||
IFIH1_chr2_162262074_162323684 | 162314425 | TTTCTTTC others(24): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp2 HG01106.hp1 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001 a0001c0003t0001g0026 a0001c0003t0001g0027 others(6): Show |
13 | 213 | 0.0610 | -31 | c.453 others(48): Show |
IFIH1 | ENSG00000115267.10 | transcript | ENST00000649979.2 | protein_coding | 1/15 | chr2 | TogoVar | |||||||
IFNLR1_chr1_24149168_24192289 | 24162713 | TTCTTTCT others(24): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0278 | 1 | 307 | 0.0033 | -31 | c.368 others(48): Show |
IFNLR1 | ENSG00000185436.12 | transcript | ENST00000327535.6 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
IFT43_chr14_75980763_76088742 | 75999253 | ATATATAT others(24): Show |
A | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0345 |
3 | 386 | 0.0078 | -31 | c.147 others(50): Show |
IFT43 | ENSG00000119650.13 | transcript | ENST00000314067.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |