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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GTF3C2_chr2_27320854_27361764 | 27359431 | CCTCTGCC others(33): Show |
C | upstream_gene_variant | MODIFIER | NA18988.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 286 | 0.0035 | -40 | c.-27 others(51): Show |
GTF3C2 | ENSG00000115207.15 | transcript | ENST00000264720.8 | protein_coding | 2668 | chr2 | TogoVar | ||||||
GTPBP4_chr10_983434_1024932 | 1016799 | ATAACTGT others(33): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02602.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0198a0001c0002t0002g0105 | 2 | 370 | 0.0054 | -40 | c.175 others(57): Show |
GTPBP4 | ENSG00000107937.19 | transcript | ENST00000360803.9 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GUCY1A2_chr11_106669019_107023476 | 106774577 | CTGATTGA others(33): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0001t0071a0001c0003t0017others(1): Show | a0001c0001t0017g0072a0001c0001t0071g0077a0001c0003t0017g0231others(1): Show | 4 | 256 | 0.0156 | -40 | c.183 others(59): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 6/7 | chr11 | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2827053 | CACTCATA others(33): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(142): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0003a0001c0016others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0052others(139): Show | 145 | 316 | 0.4589 | -40 | c.-20 others(51): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 1876 | chrX | TogoVar | ||||||
GYG2_chrX_2823930_2887818 | 2827079 | ATCATCAC others(33): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01175.hp2 HG01257.hp1 others(1): Show |
a0001a0011 | a0001c0001a0011c0019 | a0001c0001t0004a0011c0019t0004 | a0001c0001t0004g0003a0001c0001t0004g0130a0001c0001t0004g0131others(1): Show | 4 | 316 | 0.0127 | -40 | c.-20 others(51): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 1850 | chrX | TogoVar | ||||||
H3-4_chr1_228419845_228430360 | 228427027 | CTCCCTCC others(33): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(245): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(3): Show | a0001c0001t0001g0000a0001c0003t0001g0000a0001c0008t0001g0000others(3): Show | 248 | 414 | 0.5990 | -40 | c.-17 others(51): Show |
H3-4 | ENSG00000168148.4 | transcript | ENST00000366696.2 | protein_coding | 1668 | chr1 | TogoVar | ||||||
H4C11_chr6_27819092_27829480 | 27827677 | GACGGGGC others(33): Show |
G | downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 396 | 0.0025 | -40 | c.*32 others(51): Show |
H4C11 | ENSG00000197238.5 | transcript | ENST00000355057.3 | protein_coding | 3198 | chr6 | TogoVar | ||||||
H4C12_chr6_27826174_27836560 | 27827677 | GACGGGGC others(33): Show |
G | downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 419 | 0.0024 | -40 | c.*34 others(51): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 3496 | chr6 | TogoVar | ||||||
HADHB_chr2_26239939_26295465 | 26291259 | TTGAGAGT others(33): Show |
T | downstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0217 | 1 | 290 | 0.0035 | -40 | c.*13 others(51): Show |
HADHB | ENSG00000138029.14 | transcript | ENST00000317799.10 | protein_coding | 795 | chr2 | TogoVar | ||||||
HAPLN1_chr5_83632805_83725855 | 83676165 | TGCACACA others(33): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG00741.hp1 others(70): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0011a0001c0001t0001g0022a0001c0001t0001g0029others(70): Show | 73 | 372 | 0.1962 | -40 | c.-26 others(57): Show |
HAPLN1 | ENSG00000145681.11 | transcript | ENST00000274341.9 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
HAUS1_chr18_46099385_46133333 | 46112422 | TTATATAT others(33): Show |
T | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0269 | 1 | 372 | 0.0027 | -40 | c.206 others(57): Show |
HAUS1 | ENSG00000152240.13 | transcript | ENST00000282058.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HAVCR1_chr5_157024413_157064116 | 157044397 | GAAGGAAG others(33): Show |
G | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 352 | 0.0028 | -40 | c.782 others(57): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | ||||||
HAVCR1_chr5_157024413_157064116 | 157044440 | AAAGAAAG others(33): Show |
A | intron_variant | MODIFIER | HG03579.hp2 NA19043.hp1 |
a0006a0008 | a0006c0006a0008c0010 | a0006c0006t0002a0008c0010t0004 | a0006c0006t0002g0009a0008c0010t0004g0223 | 2 | 352 | 0.0057 | -40 | c.782 others(57): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | ||||||
HAVCR1_chr5_157024413_157064116 | 157044607 | GAAAGAAA others(33): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01167.hp2 HG01169.hp1 others(2): Show |
a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0003a0006c0006t0003g0045a0006c0006t0003g0046others(1): Show | 5 | 352 | 0.0142 | -40 | c.782 others(57): Show |
HAVCR1 | ENSG00000113249.14 | transcript | ENST00000523175.6 | protein_coding | 5/8 | chr5 | TogoVar | ||||||
HAVCR2_chr5_157080832_157114044 | 157081951 | AGGTAGTA others(33): Show |
A | downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 HG01981.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003a0002c0002t0013 | a0001c0001t0003g0012a0001c0001t0003g0080a0001c0001t0003g0201others(7): Show | 13 | 380 | 0.0342 | -40 | c.*51 others(51): Show |
HAVCR2 | ENSG00000135077.10 | transcript | ENST00000307851.9 | protein_coding | 3880 | chr5 | TogoVar | ||||||
HCCS_chrX_11106332_11128086 | 11122054 | TTTCCTTT others(33): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0002 | 1 | 236 | 0.0042 | -40 | c.*24 others(49): Show |
HCCS | ENSG00000004961.15 | transcript | ENST00000380762.5 | protein_coding | 7/7 | 245 | chrX | TogoVar | |||||
HCN2_chr19_584881_622159 | 620924 | GGGGGCGC others(33): Show |
G | downstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0125 | 1 | 408 | 0.0025 | -40 | c.*44 others(51): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 3766 | chr19 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239185291 | ATGCCCTA others(33): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0015 | a0001c0015t0047 | a0001c0015t0047g0037 | 1 | 242 | 0.0041 | -40 | c.339 others(57): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 4/26 | chr2 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239263270 | GCCCAGCC others(33): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00438.hp2 others(62): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0001g0002a0001c0001t0001g0103a0001c0001t0001g0104others(62): Show | 65 | 242 | 0.2686 | -40 | c.23- others(57): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | ||||||
HDAC4_chr2_239043168_239406020 | 239282179 | CACACAAT others(33): Show |
C | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0189 | 1 | 242 | 0.0041 | -40 | c.23- others(57): Show |
HDAC4 | ENSG00000068024.18 | transcript | ENST00000543185.6 | protein_coding | 2/26 | chr2 | TogoVar | ||||||
HDAC8_chrX_72324516_72577843 | 72576130 | GTCAGAAA others(33): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 208 | 0.0048 | -40 | c.-34 others(51): Show |
HDAC8 | ENSG00000147099.21 | transcript | ENST00000373573.9 | protein_coding | 3288 | chrX | TogoVar | ||||||
HDGFL1_chr6_22564566_22576666 | 22576522 | GATATATA others(33): Show |
G | downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0000 | 1 | 432 | 0.0023 | -40 | c.*61 others(51): Show |
HDGFL1 | ENSG00000112273.7 | transcript | ENST00000510882.4 | protein_coding | 4857 | chr6 | TogoVar | ||||||
HDHD3_chr9_113368422_113381986 | 113378593 | GTATGCAT others(33): Show |
G | upstream_gene_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 464 | 0.0022 | -40 | c.-21 others(51): Show |
HDHD3 | ENSG00000119431.10 | transcript | ENST00000374180.4 | protein_coding | 1608 | chr9 | TogoVar | ||||||
HDLBP_chr2_241222291_241320672 | 241231870 | TGCAACAG others(33): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00642.hp1 others(35): Show |
a0001a0002a0004 | a0001c0001a0001c0013a0002c0002others(3): Show | a0001c0001t0001a0001c0013t0013a0002c0002t0001others(6): Show | a0001c0001t0001g0234a0001c0013t0013g0063a0002c0002t0001g0112others(35): Show | 38 | 354 | 0.1073 | -40 | c.328 others(57): Show |
HDLBP | ENSG00000115677.18 | transcript | ENST00000310931.10 | protein_coding | 24/27 | chr2 | TogoVar | ||||||
HEATR5A_chr14_31286788_31425550 | 31336213 | CATACATA others(33): Show |
C | intron_variant | MODIFIER | NA19240.hp2 | a0009 | a0009c0008 | a0009c0008t0003 | a0009c0008t0003g0129 | 1 | 354 | 0.0028 | -40 | c.336 others(59): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 22/35 | chr14 | TogoVar | ||||||
HEATR5A_chr14_31286788_31425550 | 31407580 | TTATTTAT others(33): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(256): Show |
a0001a0002a0003others(20): Show | a0001c0001a0002c0002a0002c0021others(21): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(37): Show | a0001c0001t0001g0016a0001c0001t0001g0021a0001c0001t0001g0022others(256): Show | 259 | 354 | 0.7316 | -40 | c.-74 others(57): Show |
HEATR5A | ENSG00000129493.15 | transcript | ENST00000543095.7 | protein_coding | 1/35 | chr14 | TogoVar | ||||||
HELZ2_chr20_63553086_63579239 | 63559520 | CAGTCAGA others(33): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp1 NA18906.hp1 |
a0025a0067a0072 | a0025c0026a0067c0087a0072c0054 | a0025c0026t0099a0067c0087t0014a0072c0054t0015 | a0025c0026t0099g0237a0067c0087t0014g0244a0072c0054t0015g0092 | 3 | 390 | 0.0077 | -40 | c.782 others(57): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 19/19 | chr20 | TogoVar | ||||||
HELZ_chr17_67065444_67250196 | 67242500 | CTATACAC others(33): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(266): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(70): Show | a0001c0001t0001g0088a0001c0001t0001g0168a0001c0001t0001g0169others(265): Show | 269 | 274 | 0.9818 | -40 | c.-76 others(57): Show |
HELZ | ENSG00000198265.12 | transcript | ENST00000358691.10 | protein_coding | 2/32 | chr17 | TogoVar | ||||||
HENMT1_chr1_108643295_108666093 | 108657975 | ACACACAC others(33): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0220 | 1 | 442 | 0.0023 | -40 | c.22- others(53): Show |
HENMT1 | ENSG00000162639.16 | transcript | ENST00000651461.1 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
HEPHL1_chr11_94016354_94119208 | 94060092 | TTATATAT others(33): Show |
T | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0257 | 1 | 368 | 0.0027 | -40 | c.416 others(57): Show |
HEPHL1 | ENSG00000181333.12 | transcript | ENST00000315765.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HERPUD2_chr7_35627659_35700135 | 35682210 | TGTGTGTG others(33): Show |
T | intron_variant | MODIFIER | HG03130.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0215a0001c0001t0005g0216 | 2 | 392 | 0.0051 | -40 | c.148 others(57): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35682288 | CGTGTGTG others(33): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 392 | 0.0026 | -40 | c.148 others(57): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
HERPUD2_chr7_35627659_35700135 | 35682315 | ACACATAC others(33): Show |
A | intron_variant | MODIFIER | NA18998.hp1 NA19006.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0003a0005c0005t0003 | a0001c0001t0003g0193a0005c0005t0003g0194 | 2 | 392 | 0.0051 | -40 | c.148 others(57): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
HES4_chr1_993964_1005097 | 1001667 | CCGGCCCT others(33): Show |
C | upstream_gene_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 396 | 0.0025 | -40 | c.-17 others(51): Show |
HES4 | ENSG00000188290.11 | transcript | ENST00000304952.11 | protein_coding | 1571 | chr1 | TogoVar | ||||||
HES4_chr1_993964_1005097 | 1002732 | CCTGTATT others(33): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 396 | 0.0025 | -40 | c.-27 others(51): Show |
HES4 | ENSG00000188290.11 | transcript | ENST00000304952.11 | protein_coding | 2636 | chr1 | TogoVar | ||||||
HEXIM1_chr17_45143475_45157099 | 45145334 | CAGCAGGG others(33): Show |
C | upstream_gene_variant | MODIFIER | HG01123.hp2 HG01192.hp1 HG02258.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0031 | a0001c0001t0007g0000a0001c0001t0008g0000a0001c0001t0031g0000 | 26 | 442 | 0.0588 | -40 | c.-38 others(51): Show |
HEXIM1 | ENSG00000186834.4 | transcript | ENST00000332499.4 | protein_coding | 3140 | chr17 | TogoVar | ||||||
HHIPL1_chr14_99640129_99685569 | 99646802 | GATATGAT others(33): Show |
G | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0072 | 1 | 374 | 0.0027 | -40 | c.255 others(57): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HHIPL1_chr14_99640129_99685569 | 99656836 | AAAGGAAG others(33): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG01081.hp1 others(10): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0006 | a0001c0002t0002a0001c0002t0003a0002c0001t0001others(1): Show | a0001c0002t0002g0045a0001c0002t0003g0023a0001c0002t0003g0027others(9): Show | 13 | 374 | 0.0348 | -40 | c.903 others(55): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HHIP_chr4_144641156_144750271 | 144742972 | TATATATA others(33): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(300): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0010others(286): Show | 303 | 316 | 0.9589 | -40 | c.*50 others(51): Show |
HHIP | ENSG00000164161.10 | transcript | ENST00000296575.8 | protein_coding | 13/13 | 5016 | chr4 | TogoVar | |||||
HIBCH_chr2_190198920_190324826 | 190199387 | CTTGGTAT others(33): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02257.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0083a0001c0001t0001g0084others(10): Show | 14 | 368 | 0.0380 | -40 | c.*56 others(51): Show |
HIBCH | ENSG00000198130.16 | transcript | ENST00000359678.10 | protein_coding | 4532 | chr2 | TogoVar | ||||||
HIGD1A_chr3_42777908_42809490 | 42797487 | CCATCTAG others(33): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0025a0001c0001t0004g0049a0001c0001t0004g0056others(2): Show | 6 | 400 | 0.0150 | -40 | c.-22 others(57): Show |
HIGD1A | ENSG00000181061.14 | transcript | ENST00000321331.12 | protein_coding | 1/3 | chr3 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75664010 | ATATATAC others(33): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 254 | 0.0039 | -40 | c.121 others(59): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIP1_chr7_75528298_75743941 | 75664338 | GTGTGTAT others(33): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0001c0018others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0039a0001c0001t0001g0106a0001c0001t0001g0113others(39): Show | 42 | 254 | 0.1654 | -40 | c.121 others(59): Show |
HIP1 | ENSG00000127946.17 | transcript | ENST00000336926.11 | protein_coding | 1/30 | chr7 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41638337 | AGAGAGAG others(33): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG02109.hp2 others(13): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0011a0001c0044others(6): Show | a0001c0001t0005a0001c0011t0004a0001c0011t0021others(10): Show | a0001c0001t0005g0035a0001c0011t0004g0041a0001c0011t0021g0040others(13): Show | 16 | 134 | 0.1194 | -40 | c.-72 others(59): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41824768 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG03041.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0057 | a0001c0001t0001g0125a0003c0006t0057g0023 | 2 | 134 | 0.0149 | -40 | c.-80 others(61): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41824772 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG03710.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0044 | a0001c0003t0002g0031a0001c0003t0044g0030 | 2 | 134 | 0.0149 | -40 | c.-80 others(61): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
HLA-DQB1_chr6_32654467_32671657 | 32662523 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(110): Show |
a0003a0005a0011others(1): Show | a0003c0003a0005c0006a0005c0019others(2): Show | a0003c0003t0003a0005c0006t0004a0005c0019t0004others(2): Show | a0003c0003t0003g0001a0003c0003t0003g0047a0003c0003t0003g0048others(11): Show | 113 | 402 | 0.2811 | -40 | c.380 others(55): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
HMG20A_chr15_77415888_77490603 | 77434318 | AGGAGTTT others(33): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG00741.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0003g0017a0001c0001t0003g0148a0001c0001t0003g0322others(25): Show | 30 | 366 | 0.0820 | -40 | c.-5+ others(57): Show |
HMG20A | ENSG00000140382.15 | transcript | ENST00000336216.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
HMGCLL1_chr6_55429373_55584192 | 55539970 | AAGGAAGG others(33): Show |
A | intron_variant | MODIFIER | HG03688.hp2 NA19010.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0104a0001c0001t0002g0055a0001c0001t0002g0087 | 3 | 334 | 0.0090 | -40 | c.297 others(57): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 3/8 | chr6 | TogoVar | ||||||
HMGCLL1_chr6_55429373_55584192 | 55539974 | AAGGAAGG others(33): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(54): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0022others(52): Show | 57 | 334 | 0.1707 | -40 | c.297 others(57): Show |
HMGCLL1 | ENSG00000146151.14 | transcript | ENST00000274901.9 | protein_coding | 3/8 | chr6 | TogoVar |