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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIPR1_chr2_3183970_3382818 | 3328481 | AGCTCTAA others(48): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(43): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0097 a0001c0001t0001g0098 others(43): Show |
46 | 250 | 0.1840 | -55 | c.259 others(72): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ELOC_chr8_73940119_73977191 | 73976049 | AGGCGGCA others(48): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG00642.hp2 others(93): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 others(74): Show |
96 | 404 | 0.2376 | -55 | c.-40 others(66): Show |
ELOC | ENSG00000154582.18 | transcript | ENST00000520242.6 | protein_coding | 3859 | chr8 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306230 | AGGGGAGA others(48): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00609.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(34): Show |
40 | 320 | 0.1250 | -55 | c.-8- others(72): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60819059 | GGGAGGGG others(48): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 258 | 0.0039 | -55 | c.-85 others(74): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60819079 | GGGAGGGG others(48): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00621.hp2 others(36): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 others(35): Show |
39 | 258 | 0.1512 | -55 | c.-85 others(74): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
EML5_chr14_88607431_88797953 | 88796608 | GTTATACA others(48): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01099.hp2 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0021a0002c0002t0038 | a0002c0002t0001g0236 a0002c0002t0001g0239 a0002c0002t0001g0243 others(6): Show |
9 | 332 | 0.0271 | -55 | c.-41 others(66): Show |
EML5 | ENSG00000165521.16 | transcript | ENST00000554922.6 | protein_coding | 3656 | chr14 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667562 | TGGTGATG others(48): Show |
T | downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0154 | 1 | 418 | 0.0024 | -55 | c.*66 others(66): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2755 | chr18 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5449205 | AGATAGCA others(48): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0037 | 1 | 222 | 0.0045 | -55 | c.382 others(72): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 3/22 | chr18 | TogoVar | |||||||
EPHA8_chr1_22558489_22608595 | 22600159 | AGGGAGGC others(48): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0005 | a0001c0001t0002g0098 a0001c0006t0005g0207 a0001c0006t0005g0212 others(5): Show |
8 | 342 | 0.0234 | -55 | c.238 others(72): Show |
EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EPS8L3_chr1_109745080_109768923 | 109757952 | TCCTTGTT others(48): Show |
T | frameshift_variant | HIGH | HG02698.hp1 | a0014 | a0014c0023 | a0014c0023t0001 | a0014c0023t0001g0160 | 1 | 426 | 0.0024 | -55 | c.769 others(62): Show |
p.Glu others(5): Show |
EPS8L3 | ENSG00000198758.11 | transcript | ENST00000361965.9 | protein_coding | 9/19 | 949/2219 | 769/1782 | 257/593 | chr1 | TogoVar | |||
ERCC3_chr2_127252290_127299144 | 127292369 | GTGGCCTC others(48): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02630.hp1 HG02818.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0003c0006t0002 | a0001c0001t0001g0228 a0001c0001t0002g0043 a0001c0001t0002g0262 others(3): Show |
7 | 350 | 0.0200 | -55 | c.471 others(70): Show |
ERCC3 | ENSG00000163161.14 | transcript | ENST00000285398.7 | protein_coding | 3/14 | chr2 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 675101 | AGTGAGGA others(48): Show |
A | intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 378 | 0.0027 | -55 | c.305 others(72): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 675185 | TGAGGACA others(48): Show |
T | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 378 | 0.0027 | -55 | c.305 others(72): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 675734 | TGAGGACA others(48): Show |
T | intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0237 | 1 | 378 | 0.0027 | -55 | c.305 others(72): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 675808 | CCCCCTCG others(48): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 378 | 0.0027 | -55 | c.305 others(72): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 675953 | TGAGGACA others(48): Show |
T | intron_variant | MODIFIER | HG00639.hp1 | a0007 | a0007c0017 | a0007c0017t0002 | a0007c0017t0002g0326 | 1 | 378 | 0.0027 | -55 | c.305 others(72): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 676108 | GCCCCTCG others(48): Show |
G | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 378 | 0.0027 | -55 | c.305 others(72): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 676310 | CGAGGACA others(48): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0154 others(3): Show |
8 | 378 | 0.0212 | -55 | c.305 others(72): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 676365 | TGAGGACA others(48): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(103): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0020 others(101): Show |
106 | 378 | 0.2804 | -55 | c.305 others(72): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 695492 | TCTCCTCT others(48): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG01168.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0205 others(7): Show |
10 | 378 | 0.0265 | -55 | c.170 others(72): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 695585 | GGCTCCTC others(48): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 | 1 | 378 | 0.0027 | -55 | c.170 others(72): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERICH5_chr8_98059568_98098609 | 98073490 | ATATATAT others(48): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01169.hp1 HG01978.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0135 a0001c0001t0001g0312 a0001c0001t0001g0331 others(7): Show |
10 | 442 | 0.0226 | -55 | c.58+ others(70): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | chr8 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 675541 | GACTCTGA others(48): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00609.hp1 HG00639.hp1 others(40): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0007 a0001c0001t0001g0237 a0001c0001t0001g0239 others(40): Show |
43 | 272 | 0.1581 | -55 | c.-44 others(74): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 676290 | AGACTCTG others(48): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 272 | 0.0037 | -55 | c.-44 others(74): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 676895 | ACTGCGGT others(48): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp1 HG02818.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 others(7): Show |
10 | 272 | 0.0368 | -55 | c.-44 others(74): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 1/27 | chr6 | TogoVar | |||||||
FAM174B_chr15_92612448_92660775 | 92631196 | TATATTAC others(48): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG01071.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0016a0001c0001t0020 | a0001c0001t0007g0348 a0001c0001t0016g0341 a0001c0001t0016g0351 others(2): Show |
5 | 394 | 0.0127 | -55 | c.345 others(70): Show |
FAM174B | ENSG00000185442.13 | transcript | ENST00000327355.6 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
FAM227B_chr15_49321970_49625818 | 49489805 | ATATATAT others(48): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0279 | 1 | 294 | 0.0034 | -55 | c.101 others(76): Show |
FAM227B | ENSG00000166262.16 | transcript | ENST00000299338.11 | protein_coding | 11/15 | chr15 | TogoVar | |||||||
FAM53A_chr4_1634887_1689313 | 1672161 | CCCAGGAA others(48): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(57): Show |
a0001a0005a0007others(2): Show | a0001c0002a0001c0021a0005c0006others(3): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0015others(14): Show | a0001c0002t0003g0153 a0001c0002t0003g0160 a0001c0002t0003g0161 others(56): Show |
60 | 350 | 0.1714 | -55 | c.-16 others(74): Show |
FAM53A | ENSG00000174137.14 | transcript | ENST00000308132.11 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9021238 | TTATATAA others(48): Show |
T | downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 258 | 0.0039 | -55 | c.*41 others(66): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2993 | chrX | TogoVar | |||||||
FAM9B_chrX_9019232_9039127 | 9021291 | TAATATAT others(48): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0038 | 1 | 258 | 0.0039 | -55 | c.*40 others(66): Show |
FAM9B | ENSG00000177138.17 | transcript | ENST00000327220.10 | protein_coding | 2940 | chrX | TogoVar | |||||||
FANCA_chr16_89732549_89821647 | 89755831 | CCCCGCAC others(48): Show |
C | intron_variant | MODIFIER | NA18612.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0182 | 1 | 334 | 0.0030 | -55 | c.298 others(74): Show |
FANCA | ENSG00000187741.16 | transcript | ENST00000389301.8 | protein_coding | 30/42 | chr16 | TogoVar | |||||||
FCN1_chr9_134898232_134922912 | 134915145 | GACCAGGT others(48): Show |
G | intron_variant | MODIFIER | NA18942.hp1 | a0009 | a0009c0009 | a0009c0009t0009 | a0009c0009t0009g0145 | 1 | 434 | 0.0023 | -55 | c.218 others(70): Show |
FCN1 | ENSG00000085265.12 | transcript | ENST00000371806.4 | protein_coding | 2/8 | chr9 | TogoVar | |||||||
FGF14_chr13_101705804_101921945 | 101850472 | ATATATAT others(48): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0163 | 1 | 266 | 0.0038 | -55 | c.408 others(74): Show |
FGF14 | ENSG00000102466.17 | transcript | ENST00000376143.5 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
FGF2_chr4_122821831_122903236 | 122863948 | GTTCTTTA others(48): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG02257.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0022a0001c0002t0022 | a0001c0001t0013g0243 a0001c0001t0013g0244 a0001c0001t0013g0245 others(3): Show |
6 | 256 | 0.0234 | -55 | c.179 others(74): Show |
FGF2 | ENSG00000138685.18 | transcript | ENST00000644866.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FGF7_chr15_49418242_49493775 | 49489805 | ATATATAT others(48): Show |
A | downstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0067 | 1 | 358 | 0.0028 | -55 | c.*53 others(66): Show |
FGF7 | ENSG00000140285.12 | transcript | ENST00000267843.9 | protein_coding | 1031 | chr15 | TogoVar | |||||||
FIRRM_chr1_169790040_169859080 | 169850990 | TTTTTTTT others(48): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0155 | 1 | 420 | 0.0024 | -55 | c.224 others(72): Show |
FIRRM | ENSG00000000460.17 | transcript | ENST00000359326.9 | protein_coding | 23/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXN3_chr14_89151177_89422233 | 89361426 | CCACCACC others(48): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0189 | 1 | 230 | 0.0044 | -55 | c.544 others(74): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FRAS1_chr4_78052323_78549269 | 78344004 | TTGATCAC others(48): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp2 HG01109.hp1 others(35): Show |
a0008a0009a0016others(28): Show | a0008c0006a0009c0070a0009c0071others(30): Show | a0008c0006t0004a0008c0006t0043a0009c0070t0001others(31): Show | a0008c0006t0004g0171 a0008c0006t0004g0172 a0008c0006t0004g0174 others(35): Show |
38 | 178 | 0.2135 | -55 | c.242 others(74): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 20/73 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FREM2_chr13_38682077_38892131 | 38813464 | TTCTCTCT others(48): Show |
T | intron_variant | MODIFIER | HG02129.hp2 NA18963.hp2 |
a0001a0002 | a0001c0002a0002c0010 | a0001c0002t0004a0002c0010t0004 | a0001c0002t0004g0169 a0002c0010t0004g0034 |
2 | 262 | 0.0076 | -55 | c.601 others(76): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FREM2_chr13_38682077_38892131 | 38813512 | CTCTCTCC others(48): Show |
C | intron_variant | MODIFIER | HG02071.hp1 HG02071.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0004 | a0001c0001t0001g0172 a0003c0003t0004g0069 |
2 | 262 | 0.0076 | -55 | c.601 others(76): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FREM2_chr13_38682077_38892131 | 38813516 | CTCCTCTC others(48): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0045 | a0045c0043 | a0045c0043t0012 | a0045c0043t0012g0234 | 1 | 262 | 0.0038 | -55 | c.601 others(76): Show |
FREM2 | ENSG00000150893.11 | transcript | ENST00000280481.9 | protein_coding | 6/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
FRG2_chr4_190019367_190032256 | 190031395 | GAGGCTGA others(48): Show |
G | upstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | -55 | c.-42 others(66): Show |
FRG2 | ENSG00000205097.7 | transcript | ENST00000504750.6 | protein_coding | 4140 | chr4 | TogoVar | |||||||
FSHR_chr2_48957157_49159515 | 49127843 | TCTTCTTC others(48): Show |
T | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 350 | 0.0029 | -55 | c.152 others(74): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
FSHR_chr2_48957157_49159515 | 49127844 | CTTCTTCT others(48): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0157 | 1 | 350 | 0.0029 | -55 | c.152 others(74): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 1/9 | chr2 | TogoVar | |||||||
GATA5_chr20_62458497_62480995 | 62477166 | CTCGGAGC others(48): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02717.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0014 a0001c0002t0003g0220 |
2 | 382 | 0.0052 | -55 | c.-13 others(66): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1172 | chr20 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880431 | CATATATA others(48): Show |
C | intron_variant | MODIFIER | HG03209.hp1 HG03669.hp2 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0022 | a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0030 others(1): Show |
4 | 346 | 0.0116 | -55 | c.344 others(74): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GGT1_chr22_24598193_24633996 | 24605560 | AATATTAT others(48): Show |
A | intron_variant | MODIFIER | NA18968.hp2 | a0008 | a0008c0017 | a0008c0017t0009 | a0008c0017t0009g0414 | 1 | 426 | 0.0024 | -55 | c.-42 others(74): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605584 | ATATAATA others(48): Show |
A | intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0281 | 1 | 426 | 0.0024 | -55 | c.-42 others(74): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | |||||||
GHR_chr5_42418439_42726878 | 42579108 | TAGATAGA others(48): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01257.hp2 HG01258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0086 others(4): Show |
7 | 210 | 0.0333 | -55 | c.70+ others(72): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 4276351 | CGGGAGGG others(48): Show |
C | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0070 | 1 | 188 | 0.0053 | -55 | c.388 others(72): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 2/10 | chr9 | TogoVar |