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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKAP6_chr14_32324298_32842684 | 32841964 | C | CTCCCTCC others(6): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02280.hp2 others(4): Show |
a0001a0002a0019others(2): Show | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0001a0001c0004t0007a0001c0006t0015others(4): Show | a0001c0001t0001g0049 a0001c0004t0007g0020 a0001c0006t0015g0135 others(4): Show |
7 | 152 | 0.0461 | 13 | c.*12 others(26): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 4281 | chr14 | TogoVar | |||||||
AKAP7_chr6_131130467_131288532 | 131161644 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01192.hp1 HG01192.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0085 a0001c0001t0001g0152 a0001c0001t0001g0155 others(3): Show |
6 | 34 | 0.1765 | 13 | c.291 others(30): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP7_chr6_131130467_131288532 | 131207491 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01516.hp1 HG01884.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0006a0002c0002t0001others(1): Show | a0001c0001t0004g0026 a0001c0001t0004g0035 a0001c0001t0004g0036 others(9): Show |
12 | 161 | 0.0745 | 13 | c.702 others(30): Show |
AKAP7 | ENSG00000118507.19 | transcript | ENST00000431975.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP9_chr7_91935862_92115673 | 92012973 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0155 | 1 | 90 | 0.0111 | 13 | c.353 others(30): Show |
AKAP9 | ENSG00000127914.19 | transcript | ENST00000356239.8 | protein_coding | 9/49 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKIRIN1_chr1_38986276_39011059 | 38994672 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 a0001c0001t0001g0187 |
2 | 18 | 0.1111 | 13 | c.220 others(30): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AKIRIN2_chr6_87669860_87707233 | 87670463 | G | GCCCGCCC others(6): Show |
downstream_gene_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 404 | 0.0025 | 13 | c.*51 others(24): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 4396 | chr6 | TogoVar | |||||||
AKR1A1_chr1_45545826_45575049 | 45549000 | A | ATTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG02273.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0006 a0001c0001t0001g0033 a0001c0001t0001g0041 others(4): Show |
7 | 16 | 0.4375 | 13 | c.-21 others(24): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 1825 | chr1 | TogoVar | |||||||
AKR1A1_chr1_45545826_45575049 | 45557912 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01175.hp1 others(27): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0005c0006t0002 | a0001c0001t0001g0146 a0001c0001t0002g0003 a0001c0001t0002g0040 others(19): Show |
30 | 100 | 0.3000 | 13 | c.-6- others(28): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AKR1A1_chr1_45545826_45575049 | 45571542 | A | AGCCACTG others(6): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 NA18940.hp2 NA18944.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0132 others(8): Show |
16 | 350 | 0.0457 | 13 | c.*15 others(24): Show |
AKR1A1 | ENSG00000117448.14 | transcript | ENST00000351829.9 | protein_coding | 1494 | chr1 | TogoVar | |||||||
AKR1C3_chr10_5089414_5112686 | 5108382 | G | GCATATGT others(6): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 a0001c0001t0002g0060 |
2 | 177 | 0.0113 | 13 | c.*87 others(22): Show |
AKR1C3 | ENSG00000196139.14 | transcript | ENST00000380554.5 | protein_coding | 697 | chr10 | TogoVar | |||||||
AKR1C4_chr10_5191837_5223949 | 5221401 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0012 a0001c0003t0001g0078 |
2 | 61 | 0.0328 | 13 | c.*26 others(24): Show |
AKR1C4 | ENSG00000198610.11 | transcript | ENST00000263126.3 | protein_coding | 2453 | chr10 | TogoVar | |||||||
AKR1D1_chr7_138071459_138123305 | 138100088 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02056.hp2 HG03041.hp2 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0037 | a0001c0001t0003g0085 a0001c0001t0008g0070 a0001c0001t0037g0065 |
3 | 19 | 0.1579 | 13 | c.456 others(30): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243525771 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0176 | 1 | 299 | 0.0033 | 13 | c.125 others(34): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243525787 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0005 | 1 | 298 | 0.0034 | 13 | c.125 others(34): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
ALAD_chr9_113381312_113406284 | 113383541 | C | CTTTCTTT others(6): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0207 | 1 | 234 | 0.0043 | 13 | c.*47 others(24): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 2770 | chr9 | TogoVar | |||||||
ALCAM_chr3_105361909_105581900 | 105563667 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01934.hp1 HG02132.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0003a0001c0002t0017 | a0001c0001t0004g0183 a0001c0002t0003g0019 a0001c0002t0003g0269 others(2): Show |
5 | 9 | 0.5556 | 13 | c.166 others(32): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALDH18A1_chr10_95600941_95661711 | 95609769 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00642.hp2 HG01243.hp2 others(31): Show |
a0001a0004a0005 | a0001c0001a0001c0004a0001c0012others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0012t0001others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0070 others(26): Show |
34 | 95 | 0.3579 | 13 | c.220 others(30): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 17/17 | chr10 | TogoVar | |||||||
ALDH1A2_chr15_57948429_58070711 | 58023658 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0295 | 1 | 161 | 0.0062 | 13 | c.118 others(30): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
ALDH1A2_chr15_57948429_58070711 | 58023658 | G | GGAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 161 | 0.0062 | 13 | c.118 others(30): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
ALDH1A2_chr15_57948429_58070711 | 58061595 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0133 | 1 | 237 | 0.0042 | 13 | c.117 others(30): Show |
ALDH1A2 | ENSG00000128918.15 | transcript | ENST00000249750.9 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105064114 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0027 | 1 | 10 | 0.1000 | 13 | c.787 others(30): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 6/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105071642 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01517.hp2 NA18941.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0010 | a0001c0001t0003g0003 a0001c0002t0010g0178 |
2 | 184 | 0.0109 | 13 | c.194 others(28): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105071642 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02965.hp1 HG04184.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0029a0001c0002t0002 | a0001c0001t0029g0151 a0001c0002t0002g0218 |
2 | 184 | 0.0109 | 13 | c.194 others(28): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105071642 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01496.hp2 NA18979.hp1 NA18985.hp2 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0019a0001c0006t0003 | a0001c0001t0001g0210 a0001c0001t0001g0214 a0001c0001t0019g0117 others(1): Show |
4 | 186 | 0.0215 | 13 | c.194 others(28): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105071643 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02109.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0014 | a0001c0001t0003g0202 a0001c0001t0005g0152 a0001c0001t0014g0014 |
3 | 370 | 0.0081 | 13 | c.194 others(28): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105074457 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02486.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0018 a0001c0001t0012g0028 |
2 | 85 | 0.0235 | 13 | c.49- others(26): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
ALDH5A1_chr6_24489969_24542207 | 24506243 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02602.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 a0001c0001t0001g0224 |
2 | 69 | 0.0290 | 13 | c.726 others(30): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24508361 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03486.hp2 HG03490.hp2 others(1): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0003a0003c0003t0001 | a0002c0002t0003g0120 a0002c0002t0003g0333 a0002c0002t0003g0335 others(1): Show |
4 | 276 | 0.0145 | 13 | c.726 others(30): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ALDH7A1_chr5_126536841_126600219 | 126571150 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 HG02723.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0012a0001c0001t0022a0001c0004t0014 | a0001c0001t0012g0368 a0001c0001t0022g0367 a0001c0004t0014g0128 |
3 | 204 | 0.0147 | 13 | c.696 others(28): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 7/17 | chr5 | TogoVar | |||||||
ALG10B_chr12_38311774_38334721 | 38333798 | T | TGTGTGTG others(6): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 NA18940.hp2 NA19012.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0003 a0001c0002t0008g0003 a0001c0002t0008g0008 |
3 | 440 | 0.0068 | 13 | c.*12 others(26): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 4078 | chr12 | TogoVar | |||||||
ALG1L2_chr3_130076831_130103390 | 130080282 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(30): Show |
a0001a0002a0005 | a0001c0001a0001c0008a0001c0018others(2): Show | a0001c0001t0001a0001c0008t0001a0001c0018t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0025 others(21): Show |
33 | 49 | 0.6735 | 13 | c.-17 others(24): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1548 | chr3 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63379459 | G | GAGATAGT others(6): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 386 | 0.0026 | 13 | c.82+ others(28): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 2/14 | chr1 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78129052 | A | AAGCTGAG others(6): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 400 | 0.0025 | 13 | c.96- others(28): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78130348 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 196 | 0.0051 | 13 | c.96- others(28): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 1/12 | chr11 | TogoVar | |||||||
ALG8_chr11_78095946_78144626 | 78143317 | A | ACACACAC others(6): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG02523.hp1 NA19086.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 a0001c0001t0001g0272 a0001c0001t0001g0294 others(1): Show |
4 | 115 | 0.0348 | 13 | c.-37 others(24): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 3692 | chr11 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29203485 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01123.hp1 HG03209.hp2 |
a0002 | a0002c0018a0002c0047 | a0002c0018t0001a0002c0047t0001 | a0002c0018t0001g0008 a0002c0047t0001g0055 |
2 | 5 | 0.4000 | 13 | c.393 others(32): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 26/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29288951 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0003 | a0003c0010 | a0003c0010t0006 | a0003c0010t0006g0002 | 1 | 73 | 0.0137 | 13 | c.181 others(32): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 9/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29396836 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01109.hp2 |
a0001a0004 | a0001c0053a0004c0045 | a0001c0053t0001a0004c0045t0002 | a0001c0053t0001g0070 a0004c0045t0002g0043 |
2 | 10 | 0.2000 | 13 | c.115 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29637709 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01891.hp2 HG02451.hp1 others(10): Show |
a0001a0002a0004 | a0001c0004a0001c0006a0001c0017others(7): Show | a0001c0004t0001a0001c0006t0001a0001c0006t0007others(8): Show | a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0006t0001g0026 others(10): Show |
13 | 28 | 0.4643 | 13 | c.952 others(32): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29787824 | G | GTCCCAAC others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0003 | a0003c0015 | a0003c0015t0002 | a0003c0015t0002g0010 | 1 | 80 | 0.0125 | 13 | c.668 others(32): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29830713 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0002 | a0004c0002t0003 | a0004c0002t0003g0025 | 1 | 57 | 0.0175 | 13 | c.667 others(32): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALLC_chr2_3653200_3707671 | 3690306 | T | TCCCCCTC others(6): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 235 | 0.0043 | 13 | c.512 others(30): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3690438 | T | TCCCCTCC others(6): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0053 | 1 | 249 | 0.0040 | 13 | c.512 others(30): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73393164 | A | AATTCTTT others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01884.hp2 others(17): Show |
a0004a0018 | a0004c0007a0004c0008a0004c0010others(3): Show | a0004c0007t0001a0004c0008t0001a0004c0010t0001others(3): Show | a0004c0007t0001g0096 a0004c0007t0001g0098 a0004c0007t0001g0099 others(17): Show |
20 | 246 | 0.0813 | 13 | c.324 others(30): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73404899 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02965.hp2 HG03195.hp2 |
a0004 | a0004c0008a0004c0032 | a0004c0008t0001a0004c0032t0001 | a0004c0008t0001g0235 a0004c0008t0001g0237 a0004c0032t0001g0236 |
3 | 93 | 0.0323 | 13 | c.325 others(30): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73414474 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
a0002a0004 | a0002c0001a0002c0069a0004c0007 | a0002c0001t0001a0002c0069t0001a0004c0007t0001 | a0002c0001t0001g0139 a0002c0069t0001g0167 a0004c0007t0001g0228 others(1): Show |
4 | 245 | 0.0163 | 13 | c.451 others(30): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73414475 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0213 | 1 | 161 | 0.0062 | 13 | c.451 others(30): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73517246 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01109.hp1 others(42): Show |
a0001a0003a0007others(2): Show | a0001c0003a0001c0004a0001c0011others(23): Show | a0001c0003t0002a0001c0004t0001a0001c0011t0001others(23): Show | a0001c0003t0002g0064 a0001c0003t0002g0066 a0001c0003t0002g0067 others(42): Show |
45 | 136 | 0.3309 | 13 | c.954 others(32): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73579063 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0003 | a0003c0036 | a0003c0036t0001 | a0003c0036t0001g0027 | 1 | 96 | 0.0104 | 13 | c.115 others(34): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7006059 | C | CGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG02300.hp2 NA18942.hp2 |
a0002 | a0002c0002a0002c0013 | a0002c0002t0001a0002c0013t0001 | a0002c0002t0001g0066 a0002c0013t0001g0065 |
2 | 32 | 0.0625 | 13 | c.141 others(28): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | chr17 | TogoVar |