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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HACE1_chr6_104723094_104864919 | 104831949 | AGAAGAGA others(24): Show |
A | intron_variant | MODIFIER | HG02965.hp1 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117a0001c0002t0001g0118 | 2 | 346 | 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 | 258 | 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 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(54): Show | 57 | 326 | 0.1749 | -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 | a0001c0001t0001g0284a0001c0001t0001g0319 | 2 | 326 | 0.0061 | -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 | a0001c0002t0001g0127a0002c0001t0002g0338 | 2 | 400 | 0.0050 | -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 | 412 | 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 | a0001c0001t0003g0092a0001c0001t0003g0098a0001c0001t0003g0099 | 3 | 226 | 0.0133 | -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 | 226 | 0.0044 | -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 | 226 | 0.0044 | -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 | a0001c0001t0002g0165 | 1 | 226 | 0.0044 | -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 | a0001c0001t0001g0184 | 1 | 226 | 0.0044 | -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 | a0001c0001t0003g0090 | 1 | 226 | 0.0044 | -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 | a0001c0001t0001g0094 | 1 | 342 | 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 | a0002c0018t0002g0067a0002c0018t0002g0068a0002c0019t0002g0093others(1): Show | 4 | 216 | 0.0185 | -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 | a0001c0001t0001g0222a0001c0001t0001g0269a0001c0001t0001g0321others(37): Show | 59 | 400 | 0.1475 | -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 | a0001c0007t0001g0020 | 2 | 400 | 0.0050 | -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 | a0002c0001t0001g0226 | 1 | 374 | 0.0027 | -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 | a0001c0002t0003g0254a0001c0002t0003g0266a0001c0002t0004g0292others(43): Show | 48 | 374 | 0.1283 | -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 | a0001c0002t0004g0150a0001c0003t0001g0015a0001c0003t0002g0096others(11): Show | 14 | 374 | 0.0374 | -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 | a0001c0001t0001g0022a0001c0001t0001g0024a0001c0001t0001g0075others(2): Show | 9 | 436 | 0.0206 | -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 | a0001c0001t0001g0340 | 1 | 398 | 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 | 424 | 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 | a0001c0001t0001g0119a0001c0001t0001g0132a0003c0003t0002g0090 | 3 | 348 | 0.0086 | -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 |
a0002a0013a0015others(1): Show | a0002c0002a0013c0020a0015c0019others(1): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0015others(3): Show | a0002c0002t0001g0002a0002c0002t0001g0012a0002c0002t0001g0013others(27): Show | 39 | 348 | 0.1121 | -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 | a0001c0005t0003g0153a0001c0005t0007g0152a0002c0002t0001g0042others(4): Show | 7 | 348 | 0.0201 | -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 |
a0006a0021a0030 | a0006c0009a0021c0030a0030c0026 | a0006c0009t0001a0021c0030t0001a0030c0026t0001 | a0006c0009t0001g0076a0006c0009t0001g0155a0006c0009t0001g0199others(4): Show | 7 | 344 | 0.0204 | -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 | a0024 | a0024c0033 | a0024c0033t0001 | a0024c0033t0001g0077 | 1 | 450 | 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 | a0001c0001t0008g0097 | 1 | 344 | 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 |
a0001a0002a0004others(13): Show | a0001c0001a0001c0015a0002c0007others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0015t0001others(16): Show | a0001c0001t0001g0035a0001c0001t0001g0052a0001c0001t0001g0087others(25): Show | 28 | 92 | 0.3044 | -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 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0085 | 1 | 92 | 0.0109 | -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 | a0014 | a0014c0013 | a0014c0013t0001 | a0014c0013t0001g0056 | 1 | 92 | 0.0109 | -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 | 436 | 0.0023 | -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 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0020 | 1 | 354 | 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 | a0001c0001t0001g0285 | 1 | 378 | 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 | 314 | 0.0032 | -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 | a0001c0001t0001g0114a0001c0004t0004g0152 | 2 | 314 | 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 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0009others(128): Show | 131 | 314 | 0.4172 | -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 | a0002c0002t0001g0037 | 1 | 320 | 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 | a0001c0001t0001g0002a0001c0001t0001g0131a0001c0001t0001g0132others(3): Show | 9 | 312 | 0.0289 | -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 | a0001c0001t0003g0026a0001c0001t0005g0027a0002c0002t0002g0028 | 3 | 142 | 0.0211 | -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 | 400 | 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 |
a0001a0004a0006others(1): Show | a0001c0001a0001c0006a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(61): Show | 90 | 330 | 0.2727 | -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 | 334 | 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 | a0001c0001t0001g0045 | 1 | 250 | 0.0040 | -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 | 274 | 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 | a0001c0001t0001g0060 | 1 | 438 | 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 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(17): Show | 74 | 438 | 0.1690 | -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 | a0001c0003t0001g0001a0001c0003t0001g0025a0001c0003t0001g0026others(6): Show | 13 | 220 | 0.0591 | -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 | a0001c0001t0018g0284 | 1 | 396 | 0.0025 | -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 | a0001c0001t0001g0012a0001c0001t0001g0373 | 3 | 396 | 0.0076 | -31 | c.147 others(50): Show |
IFT43 | ENSG00000119650.13 | transcript | ENST00000314067.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |