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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALDH8A1_chr6_134912393_134955101 | 134914510 | TTG | T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG01256.hp2 HG01257.hp2 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0007 a0001c0001t0001g0040 a0001c0001t0001g0115 others(19): Show |
45 | 370 | 0.1216 | -2 | c.*39 others(13): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 2882 | chr6 | TogoVar | |||||||
ALDH8A1_chr6_134912393_134955101 | 134926202 | CTT | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0004t0004 | a0001c0001t0001g0013 a0001c0001t0001g0140 a0001c0001t0004g0037 others(3): Show |
9 | 370 | 0.0243 | -2 | c.101 others(21): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 6/6 | chr6 | TogoVar | |||||||
ALDH8A1_chr6_134912393_134955101 | 134926808 | CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(232): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(117): Show |
235 | 370 | 0.6351 | -2 | c.101 others(21): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 6/6 | chr6 | TogoVar | |||||||
ALDH8A1_chr6_134912393_134955101 | 134931485 | AGC | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp2 others(104): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0013 others(53): Show |
107 | 370 | 0.2892 | -2 | c.849 others(19): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
ALDH8A1_chr6_134912393_134955101 | 134952258 | CAG | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(104): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(60): Show |
107 | 370 | 0.2892 | -2 | c.-22 others(13): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 2158 | chr6 | TogoVar | |||||||
ALDH9A1_chr1_165657216_165703562 | 165672972 | AAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(114): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(11): Show | a0001c0001t0001g0059 a0001c0001t0001g0097 a0001c0001t0001g0145 others(94): Show |
117 | 332 | 0.3524 | -2 | c.931 others(19): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
ALDH9A1_chr1_165657216_165703562 | 165674315 | TAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(52): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0030 a0001c0001t0001g0060 a0001c0001t0001g0073 others(49): Show |
55 | 332 | 0.1657 | -2 | c.931 others(19): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
ALDH9A1_chr1_165657216_165703562 | 165674685 | CAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(4): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0019 | a0001c0001t0002a0001c0003t0002a0006c0019t0002 | a0001c0001t0002g0108 a0001c0001t0002g0144 a0001c0001t0002g0244 others(4): Show |
7 | 332 | 0.0211 | -2 | c.930 others(19): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
ALDH9A1_chr1_165657216_165703562 | 165677857 | CAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00639.hp1 others(85): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(76): Show |
88 | 332 | 0.2651 | -2 | c.930 others(19): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
ALDH9A1_chr1_165657216_165703562 | 165680230 | GAC | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00639.hp1 others(91): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(81): Show |
94 | 332 | 0.2831 | -2 | c.789 others(17): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 5/10 | chr1 | TogoVar | |||||||
ALDH9A1_chr1_165657216_165703562 | 165682613 | CCA | C | intron_variant | MODIFIER | HG00609.hp2 HG01928.hp1 HG01934.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0002c0005t0001others(2): Show | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0002g0199 others(8): Show |
14 | 332 | 0.0422 | -2 | c.457 others(17): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
ALDH9A1_chr1_165657216_165703562 | 165691770 | AAG | A | intron_variant | MODIFIER | HG01106.hp1 HG01168.hp1 HG01169.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0286 others(2): Show |
5 | 332 | 0.0151 | -2 | c.327 others(19): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
ALDH9A1_chr1_165657216_165703562 | 165695509 | TTC | T | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02258.hp2 others(13): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0138 others(11): Show |
16 | 332 | 0.0482 | -2 | c.182 others(17): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
ALDH9A1_chr1_165657216_165703562 | 165702190 | CAA | C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02145.hp2 others(12): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0002t0001g0022 a0001c0002t0001g0169 a0001c0002t0001g0171 others(10): Show |
15 | 332 | 0.0452 | -2 | c.-36 others(13): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 3629 | chr1 | TogoVar | |||||||
ALDOB_chr9_101415560_101440774 | 101417166 | TGC | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(227): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(68): Show |
230 | 418 | 0.5502 | -2 | c.*46 others(13): Show |
ALDOB | ENSG00000136872.21 | transcript | ENST00000647789.2 | protein_coding | 3393 | chr9 | TogoVar | |||||||
ALDOB_chr9_101415560_101440774 | 101435534 | TAG | T | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 a0001c0001t0003g0056 |
4 | 418 | 0.0096 | -2 | c.-11 others(17): Show |
ALDOB | ENSG00000136872.21 | transcript | ENST00000647789.2 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
ALG10B_chr12_38311774_38334721 | 38317440 | CTG | C | intron_variant | MODIFIER | HG02970.hp2 HG03041.hp1 HG03195.hp1 others(2): Show |
a0006 | a0006c0008 | a0006c0008t0014 | a0006c0008t0014g0009 | 5 | 452 | 0.0111 | -2 | c.171 others(17): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ALG10B_chr12_38311774_38334721 | 38326471 | TTA | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(350): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(64): Show | a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0005g0002 others(72): Show |
353 | 452 | 0.7810 | -2 | c.*52 others(13): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 3/3 | 5260 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ALG10B_chr12_38311774_38334721 | 38327635 | GAA | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(331): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(61): Show | a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0005g0002 others(68): Show |
334 | 452 | 0.7389 | -2 | c.*64 others(13): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 3/3 | 6425 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ALG10B_chr12_38311774_38334721 | 38330865 | CAG | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(331): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(61): Show | a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0005g0002 others(68): Show |
334 | 452 | 0.7389 | -2 | c.*96 others(13): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 1145 | chr12 | TogoVar | |||||||
ALG10B_chr12_38311774_38334721 | 38333759 | ATG | A | downstream_gene_variant | MODIFIER | HG02922.hp1 HG02970.hp1 HG03139.hp2 others(3): Show |
a0002a0007 | a0002c0004a0007c0009 | a0002c0004t0009a0002c0004t0034a0007c0009t0020 | a0002c0004t0009g0005 a0002c0004t0034g0005 a0007c0009t0020g0011 |
6 | 452 | 0.0133 | -2 | c.*12 others(15): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 4039 | chr12 | TogoVar | |||||||
ALG10_chr12_34017496_34033302 | 34017996 | CAT | C | upstream_gene_variant | MODIFIER | HG01169.hp2 HG02257.hp2 HG02615.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 | 9 | 332 | 0.0271 | -2 | c.-46 others(13): Show |
ALG10 | ENSG00000139133.7 | transcript | ENST00000266483.7 | protein_coding | 4499 | chr12 | TogoVar | |||||||
ALG10_chr12_34017496_34033302 | 34022250 | CTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0013 a0001c0001t0003g0002 |
36 | 332 | 0.1084 | -2 | c.-34 others(11): Show |
ALG10 | ENSG00000139133.7 | transcript | ENST00000266483.7 | protein_coding | 245 | chr12 | TogoVar | |||||||
ALG10_chr12_34017496_34033302 | 34031874 | ATT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 44 | 332 | 0.1325 | -2 | c.*49 others(13): Show |
ALG10 | ENSG00000139133.7 | transcript | ENST00000266483.7 | protein_coding | 3573 | chr12 | TogoVar | |||||||
ALG11_chr13_52007398_52038600 | 52035067 | AAG | A | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02257.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0054 |
5 | 362 | 0.0138 | -2 | c.*64 others(13): Show |
ALG11 | ENSG00000253710.5 | transcript | ENST00000521508.2 | protein_coding | 1468 | chr13 | TogoVar | |||||||
ALG11_chr13_52007398_52038600 | 52035247 | AAT | A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01255.hp2 HG01256.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0009 a0002c0003t0006g0076 |
8 | 362 | 0.0221 | -2 | c.*66 others(13): Show |
ALG11 | ENSG00000253710.5 | transcript | ENST00000521508.2 | protein_coding | 1648 | chr13 | TogoVar | |||||||
ALG12_chr22_49895229_49923438 | 49897663 | CTT | C | downstream_gene_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG01891.hp2 others(12): Show |
a0001a0002a0006 | a0001c0002a0001c0004a0002c0003others(1): Show | a0001c0002t0074a0001c0004t0009a0001c0004t0019others(4): Show | a0001c0002t0074g0194 a0001c0004t0009g0016 a0001c0004t0009g0094 others(8): Show |
15 | 348 | 0.0431 | -2 | c.*61 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 2565 | chr22 | TogoVar | |||||||
ALG12_chr22_49895229_49923438 | 49901457 | ATG | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(47): Show |
a0001a0008 | a0001c0002a0008c0017 | a0001c0002t0003a0001c0002t0007a0001c0002t0008others(9): Show | a0001c0002t0003g0009 a0001c0002t0003g0021 a0001c0002t0003g0022 others(31): Show |
50 | 348 | 0.1437 | -2 | c.*23 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 2379 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49901642 | GCA | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(110): Show |
a0001a0003a0004others(3): Show | a0001c0002a0001c0004a0001c0005others(8): Show | a0001c0002t0003a0001c0002t0006a0001c0002t0007others(37): Show | a0001c0002t0003g0009 a0001c0002t0003g0021 a0001c0002t0003g0022 others(78): Show |
113 | 348 | 0.3247 | -2 | c.*21 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 2194 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49901784 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00642.hp1 others(23): Show |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0014a0002c0003t0017others(3): Show | a0002c0003t0004g0007 a0002c0003t0004g0012 a0002c0003t0004g0054 others(12): Show |
26 | 348 | 0.0747 | -2 | c.*20 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 2052 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49901823 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG01255.hp2 HG01256.hp1 HG02040.hp1 others(9): Show |
a0001a0002 | a0001c0002a0001c0005a0002c0003 | a0001c0002t0010a0001c0002t0068a0001c0002t0069others(2): Show | a0001c0002t0010g0047 a0001c0002t0010g0048 a0001c0002t0010g0189 others(6): Show |
12 | 348 | 0.0345 | -2 | c.*20 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 2013 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49901855 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(142): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0005others(11): Show | a0001c0002t0003a0001c0002t0006a0001c0002t0007others(48): Show | a0001c0002t0003g0009 a0001c0002t0003g0021 a0001c0002t0003g0022 others(99): Show |
145 | 348 | 0.4167 | -2 | c.*19 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1981 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49901894 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00642.hp1 others(30): Show |
a0002a0003a0005 | a0002c0003a0002c0013a0003c0007others(1): Show | a0002c0003t0004a0002c0003t0014a0002c0003t0017others(9): Show | a0002c0003t0004g0007 a0002c0003t0004g0012 a0002c0003t0004g0054 others(19): Show |
33 | 348 | 0.0948 | -2 | c.*19 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1942 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49901927 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG03688.hp2 NA19001.hp1 NA20300.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0060a0001c0005t0034a0002c0003t0028 | a0001c0001t0060g0144 a0001c0005t0034g0089 a0002c0003t0028g0158 others(1): Show |
4 | 348 | 0.0115 | -2 | c.*19 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1909 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49901998 | ACT | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(47): Show |
a0001a0008 | a0001c0002a0008c0017 | a0001c0002t0003a0001c0002t0007a0001c0002t0008others(9): Show | a0001c0002t0003g0009 a0001c0002t0003g0021 a0001c0002t0003g0022 others(31): Show |
50 | 348 | 0.1437 | -2 | c.*18 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1838 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49902063 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(113): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0004a0001c0005others(9): Show | a0001c0002t0003a0001c0002t0006a0001c0002t0007others(37): Show | a0001c0002t0003g0009 a0001c0002t0003g0021 a0001c0002t0003g0022 others(80): Show |
116 | 348 | 0.3333 | -2 | c.*17 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1773 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49902102 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG02922.hp1 NA18747.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0016 | a0001c0001t0050a0002c0003t0042a0002c0003t0063others(1): Show | a0001c0001t0050g0101 a0002c0003t0042g0098 a0002c0003t0063g0183 others(1): Show |
4 | 348 | 0.0115 | -2 | c.*17 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1734 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49902133 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG01361.hp2 HG01884.hp2 others(6): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0009a0001c0004t0022a0002c0003t0040 | a0001c0004t0009g0016 a0001c0004t0009g0094 a0001c0004t0009g0095 others(3): Show |
9 | 348 | 0.0259 | -2 | c.*17 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1703 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49902172 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG03654.hp1 HG04228.hp1 |
a0002 | a0002c0003 | a0002c0003t0017 | a0002c0003t0017g0015 | 3 | 348 | 0.0086 | -2 | c.*16 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1664 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49902339 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(141): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0005others(11): Show | a0001c0002t0003a0001c0002t0006a0001c0002t0007others(47): Show | a0001c0002t0003g0009 a0001c0002t0003g0021 a0001c0002t0003g0022 others(98): Show |
144 | 348 | 0.4138 | -2 | c.*14 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1497 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49902477 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02486.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0002a0001c0015 | a0001c0002t0012a0001c0002t0070a0001c0002t0072others(1): Show | a0001c0002t0012g0050 a0001c0002t0012g0191 a0001c0002t0012g0192 others(3): Show |
7 | 348 | 0.0201 | -2 | c.*13 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1359 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49902578 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(55): Show |
a0001a0007a0008 | a0001c0002a0001c0005a0007c0014others(1): Show | a0001c0002t0003a0001c0002t0007a0001c0002t0008others(13): Show | a0001c0002t0003g0009 a0001c0002t0003g0021 a0001c0002t0003g0022 others(37): Show |
58 | 348 | 0.1667 | -2 | c.*12 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1258 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49902617 | CTG | C | 3_prime_UTR_variant | MODIFIER | HG01255.hp2 HG02886.hp2 HG03471.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0020a0001c0005t0021 | a0001c0005t0020g0024 a0001c0005t0021g0025 |
4 | 348 | 0.0115 | -2 | c.*12 others(13): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1219 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49903386 | CCT | C | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00642.hp1 others(23): Show |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0014a0002c0003t0017others(3): Show | a0002c0003t0004g0007 a0002c0003t0004g0012 a0002c0003t0004g0054 others(12): Show |
26 | 348 | 0.0747 | -2 | c.*45 others(11): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 450 | chr22 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49918341 | AAC | A | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(94): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0004a0001c0005others(4): Show | a0001c0002t0003a0001c0002t0007a0001c0002t0008others(25): Show | a0001c0002t0003g0009 a0001c0002t0003g0021 a0001c0002t0003g0022 others(61): Show |
97 | 348 | 0.2787 | -2 | c.-15 others(11): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 1/10 | 4577 | chr22 | TogoVar | ||||||
ALG13_chrX_111676170_111765649 | 111687766 | CAT | C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 191 | 0.0052 | -2 | c.383 others(19): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 3/26 | chrX | TogoVar | |||||||
ALG13_chrX_111676170_111765649 | 111693164 | CTT | C | intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0047 | 1 | 191 | 0.0052 | -2 | c.383 others(19): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ALG13_chrX_111676170_111765649 | 111695517 | CTG | C | intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0080 | 1 | 191 | 0.0052 | -2 | c.383 others(21): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ALG13_chrX_111676170_111765649 | 111696982 | CTT | C | intron_variant | MODIFIER | HG02109.hp1 HG03486.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 a0001c0002t0001g0035 a0001c0002t0001g0185 |
3 | 191 | 0.0157 | -2 | c.384 others(21): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ALG13_chrX_111676170_111765649 | 111719025 | CTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02109.hp1 others(23): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0038 a0001c0002t0001g0001 a0001c0002t0001g0019 others(22): Show |
26 | 191 | 0.1361 | -2 | c.125 others(19): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar |