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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALDH5A1_chr6_24489969_24542207 | 24501939 | G | GTGTA | intron_variant | MODIFIER | HG00423.hp1 HG01261.hp2 HG01496.hp1 others(33): Show |
a0002a0003a0013 | a0002c0002a0003c0003a0003c0005others(1): Show | a0002c0002t0003a0002c0002t0018a0002c0002t0019others(5): Show | a0002c0002t0003g0120 a0002c0002t0018g0072 a0002c0002t0019g0121 others(32): Show |
36 | 363 | 0.0992 | 4 | c.355 others(19): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24516440 | C | CAAAA | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01243.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0015 | a0001c0001t0002a0001c0001t0003a0002c0002t0002others(3): Show | a0001c0001t0002g0343 a0001c0001t0003g0002 a0001c0001t0003g0014 others(9): Show |
16 | 226 | 0.0708 | 4 | c.870 others(21): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24526887 | T | TATTC | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02451.hp2 others(8): Show |
a0001a0010 | a0001c0001a0010c0011 | a0001c0001t0002a0001c0001t0003a0010c0011t0025 | a0001c0001t0002g0122 a0001c0001t0002g0340 a0001c0001t0002g0341 others(8): Show |
11 | 328 | 0.0335 | 4 | c.117 others(23): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
ALDH5A1_chr6_24489969_24542207 | 24526915 | T | TATTC | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 others(1): Show |
4 | 366 | 0.0109 | 4 | c.117 others(23): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
ALDH5A1_chr6_24489969_24542207 | 24526974 | G | GTATA | intron_variant | MODIFIER | HG00140.hp1 HG02258.hp1 HG02738.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0022others(5): Show | a0001c0001t0001g0022 a0001c0001t0001g0184 a0001c0001t0001g0278 others(21): Show |
24 | 249 | 0.0964 | 4 | c.117 others(21): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24529670 | G | GTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00735.hp1 HG01099.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0029a0002c0002t0006 | a0001c0001t0001g0128 a0001c0001t0001g0168 a0001c0001t0001g0169 others(12): Show |
15 | 137 | 0.1095 | 4 | c.134 others(23): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24540650 | C | CTTCT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(176): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0009a0001c0016others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0128 a0001c0001t0001g0163 a0001c0001t0001g0184 others(162): Show |
179 | 362 | 0.4945 | 4 | c.*69 others(15): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 3444 | chr6 | TogoVar | |||||||
ALDH6A1_chr14_74051847_74089453 | 74056198 | A | ATTTT | downstream_gene_variant | MODIFIER | HG02135.hp1 HG02895.hp1 HG02897.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0014 others(7): Show |
15 | 139 | 0.1079 | 4 | c.*44 others(15): Show |
ALDH6A1 | ENSG00000119711.13 | transcript | ENST00000553458.6 | protein_coding | 648 | chr14 | TogoVar | |||||||
ALDH6A1_chr14_74051847_74089453 | 74061294 | C | CATTT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00642.hp2 others(66): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(28): Show |
69 | 400 | 0.1725 | 4 | c.150 others(21): Show |
ALDH6A1 | ENSG00000119711.13 | transcript | ENST00000553458.6 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
ALDH6A1_chr14_74051847_74089453 | 74072618 | A | AAAAC | splice_region_variant others(1): Show |
LOW | HG01081.hp2 HG01884.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0034 a0001c0001t0001g0157 |
8 | 384 | 0.0208 | 4 | c.112 others(16): Show |
ALDH6A1 | ENSG00000119711.13 | transcript | ENST00000553458.6 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126538694 | T | TACTA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(168): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(39): Show | a0001c0001t0002g0013 a0001c0001t0002g0050 a0001c0001t0002g0054 others(168): Show |
171 | 378 | 0.4524 | 4 | c.*62 others(15): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 3146 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126556239 | C | CTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00642.hp1 others(30): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0098 a0001c0001t0001g0132 a0001c0001t0001g0141 others(30): Show |
33 | 160 | 0.2063 | 4 | c.100 others(21): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 11/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126574023 | C | CAAAA | intron_variant | MODIFIER | HG01106.hp1 HG02027.hp2 HG02055.hp2 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0284 a0001c0001t0004g0373 a0001c0001t0006g0109 others(5): Show |
8 | 230 | 0.0348 | 4 | c.695 others(21): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 7/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126578638 | C | CAAAA | intron_variant | MODIFIER | HG01123.hp1 HG01496.hp1 HG02257.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0278 a0001c0001t0001g0284 a0001c0001t0002g0281 others(11): Show |
14 | 252 | 0.0556 | 4 | c.518 others(21): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 5/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126593308 | A | AACAC | intron_variant | MODIFIER | HG00609.hp2 HG01243.hp2 HG01952.hp2 others(10): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0037 a0001c0001t0002g0130 others(10): Show |
13 | 146 | 0.0890 | 4 | c.246 others(17): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 2/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126597541 | C | CTTTA | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02970.hp2 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0012others(2): Show | a0001c0001t0004g0096 a0001c0001t0006g0004 a0001c0001t0012g0095 others(2): Show |
5 | 378 | 0.0132 | 4 | c.-23 others(15): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 2323 | chr5 | TogoVar | |||||||
ALDH8A1_chr6_134912393_134955101 | 134916687 | A | AATAT | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG02109.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(5): Show | a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 others(14): Show |
19 | 368 | 0.0516 | 4 | c.*17 others(15): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 705 | chr6 | TogoVar | |||||||
ALDH8A1_chr6_134912393_134955101 | 134931255 | T | TTTTG | intron_variant | MODIFIER | HG02630.hp1 HG02897.hp2 HG02970.hp2 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0005 | a0002c0003t0002g0043 a0002c0003t0002g0202 a0002c0003t0005g0199 others(1): Show |
5 | 368 | 0.0136 | 4 | c.849 others(21): Show |
ALDH8A1 | ENSG00000118514.14 | transcript | ENST00000265605.7 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
ALDH9A1_chr1_165657216_165703562 | 165672972 | A | AACAC | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01070.hp1 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0073 a0001c0001t0001g0085 others(20): Show |
27 | 85 | 0.3176 | 4 | c.931 others(21): Show |
ALDH9A1 | ENSG00000143149.13 | transcript | ENST00000354775.5 | protein_coding | 6/10 | chr1 | TogoVar | |||||||
ALG10B_chr12_38311774_38334721 | 38329291 | A | AAAAC | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(348): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(62): Show | a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0005g0002 others(70): Show |
351 | 449 | 0.7817 | 4 | c.*80 others(15): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 3/3 | 8082 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ALG10B_chr12_38311774_38334721 | 38333759 | A | ATGTG | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(37): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0007others(14): Show | a0001c0001t0004g0002 a0001c0001t0005g0002 a0001c0001t0007g0001 others(14): Show |
40 | 71 | 0.5634 | 4 | c.*12 others(17): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 4039 | chr12 | TogoVar | |||||||
ALG10_chr12_34017496_34033302 | 34017682 | C | CAGAA | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02572.hp1 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 4 | 330 | 0.0121 | 4 | c.-49 others(15): Show |
ALG10 | ENSG00000139133.7 | transcript | ENST00000266483.7 | protein_coding | 4813 | chr12 | TogoVar | |||||||
ALG10_chr12_34017496_34033302 | 34032137 | G | GTTTC | downstream_gene_variant | MODIFIER | HG01175.hp1 HG02615.hp1 HG02622.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0007 a0001c0002t0004g0010 a0001c0002t0004g0020 |
16 | 330 | 0.0485 | 4 | c.*52 others(15): Show |
ALG10 | ENSG00000139133.7 | transcript | ENST00000266483.7 | protein_coding | 3836 | chr12 | TogoVar | |||||||
ALG11_chr13_52007398_52038600 | 52023678 | A | ATTCT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(182): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0011 others(49): Show |
185 | 360 | 0.5139 | 4 | c.276 others(19): Show |
ALG11 | ENSG00000253710.5 | transcript | ENST00000521508.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49895864 | C | CTTGA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(111): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0005others(10): Show | a0001c0002t0003a0001c0002t0006a0001c0002t0007others(37): Show | a0001c0002t0003g0010 a0001c0002t0003g0021 a0001c0002t0003g0022 others(79): Show |
114 | 346 | 0.3295 | 4 | c.*79 others(15): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 4364 | chr22 | TogoVar | |||||||
ALG12_chr22_49895229_49923438 | 49897126 | C | CTTAG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(143): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(12): Show | a0001c0001t0067a0001c0002t0003a0001c0002t0006others(47): Show | a0001c0001t0067g0167 a0001c0002t0003g0010 a0001c0002t0003g0021 others(99): Show |
146 | 346 | 0.4220 | 4 | c.*67 others(15): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 3102 | chr22 | TogoVar | |||||||
ALG12_chr22_49895229_49923438 | 49901652 | T | TTCTG | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(142): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0005others(11): Show | a0001c0002t0003a0001c0002t0006a0001c0002t0007others(46): Show | a0001c0002t0003g0010 a0001c0002t0003g0021 a0001c0002t0003g0022 others(98): Show |
145 | 346 | 0.4191 | 4 | c.*21 others(15): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 2185 | chr22 | TogoVar | ||||||
ALG13_chrX_111676170_111765649 | 111688580 | A | AACAT | intron_variant | MODIFIER | HG01106.hp1 HG01109.hp1 HG01243.hp1 others(71): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0013others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0013t0001others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(69): Show |
74 | 189 | 0.3915 | 4 | 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 | 111750656 | C | CTTAT | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG02132.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0002t0001a0001c0013t0001 | a0001c0001t0001g0130 a0001c0001t0001g0143 a0001c0001t0001g0170 others(2): Show |
5 | 186 | 0.0269 | 4 | c.293 others(23): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 24/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 94976016 | C | CAAAA | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0039a0001c0001t0137 | a0001c0001t0026g0010 a0001c0001t0026g0012 a0001c0001t0026g0021 others(3): Show |
6 | 190 | 0.0316 | 4 | c.*70 others(15): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 4/4 | 7059 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 94979310 | A | AAAAG | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(217): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(107): Show | a0001c0001t0002g0005 a0001c0001t0002g0220 a0001c0001t0002g0221 others(212): Show |
220 | 331 | 0.6647 | 4 | c.*37 others(15): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 4/4 | 3765 | chr1 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 94984939 | T | TTTTG | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0039a0001c0001t0137others(1): Show | a0001c0001t0026g0010 a0001c0001t0026g0012 a0001c0001t0026g0021 others(4): Show |
7 | 386 | 0.0181 | 4 | c.421 others(21): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
ALG14_chr1_94969405_95077951 | 94985211 | C | CTCTA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(293): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(153): Show | a0001c0001t0002g0005 a0001c0001t0002g0220 a0001c0001t0002g0221 others(288): Show |
296 | 386 | 0.7668 | 4 | c.421 others(21): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
ALG14_chr1_94969405_95077951 | 95016942 | G | GGTGT | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00673.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(13): Show | a0001c0001t0001g0273 a0001c0001t0003g0143 a0001c0001t0003g0151 others(14): Show |
17 | 89 | 0.1910 | 4 | c.420 others(23): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
ALG14_chr1_94969405_95077951 | 95026462 | A | ATGTG | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00639.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0014others(13): Show | a0001c0001t0004g0161 a0001c0001t0010g0289 a0001c0001t0014g0034 others(15): Show |
18 | 184 | 0.0978 | 4 | c.420 others(19): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
ALG14_chr1_94969405_95077951 | 95040172 | A | AAAAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(142): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(87): Show | a0001c0001t0001g0305 a0001c0001t0001g0311 a0001c0001t0001g0356 others(140): Show |
145 | 349 | 0.4155 | 4 | c.289 others(23): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
ALG14_chr1_94969405_95077951 | 95042305 | T | TACAC | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG01496.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0091 | a0001c0001t0001g0308 a0001c0001t0007g0093 a0001c0001t0007g0094 others(4): Show |
7 | 106 | 0.0660 | 4 | c.289 others(23): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
ALG14_chr1_94969405_95077951 | 95044881 | T | TAAAA | intron_variant | MODIFIER | HG02602.hp1 HG02698.hp2 HG02735.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0032a0001c0001t0058 | a0001c0001t0018g0001 a0001c0001t0018g0381 a0001c0001t0018g0382 others(2): Show |
6 | 374 | 0.0160 | 4 | c.289 others(23): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
ALG14_chr1_94969405_95077951 | 95057622 | C | CTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(199): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(105): Show | a0001c0001t0001g0279 a0001c0001t0001g0282 a0001c0001t0001g0291 others(196): Show |
202 | 248 | 0.8145 | 4 | c.288 others(21): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
ALG14_chr1_94969405_95077951 | 95061480 | T | TGAGA | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0039a0001c0001t0137 | a0001c0001t0026g0010 a0001c0001t0026g0012 a0001c0001t0026g0021 others(3): Show |
6 | 378 | 0.0159 | 4 | c.288 others(21): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
ALG14_chr1_94969405_95077951 | 95074346 | C | CTTTT | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02809.hp2 HG03130.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0024a0001c0001t0107others(1): Show | a0001c0001t0021g0077 a0001c0001t0021g0078 a0001c0001t0024g0024 others(3): Show |
6 | 278 | 0.0216 | 4 | c.-14 others(15): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 1396 | chr1 | TogoVar | |||||||
ALG1L2_chr3_130076831_130103390 | 130079049 | C | CAAAA | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01433.hp2 others(33): Show |
a0001a0005a0007 | a0001c0001a0001c0014a0005c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0014t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0009 others(24): Show |
36 | 46 | 0.7826 | 4 | c.-29 others(15): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 2781 | chr3 | TogoVar | |||||||
ALG1_chr16_5066843_5092379 | 5072071 | G | GGTCT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(236): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0009 others(80): Show |
239 | 442 | 0.5407 | 4 | c.208 others(17): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ALG5_chr13_36944738_37004340 | 36971649 | C | CAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00609.hp2 others(67): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 others(54): Show |
70 | 88 | 0.7955 | 4 | c.621 others(19): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 7/9 | chr13 | TogoVar | |||||||
ALG5_chr13_36944738_37004340 | 36972519 | A | AAGAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(235): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(195): Show |
238 | 274 | 0.8686 | 4 | c.562 others(19): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 6/9 | chr13 | TogoVar | |||||||
ALG5_chr13_36944738_37004340 | 36988719 | T | TGAGA | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01981.hp2 others(24): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0032 others(23): Show |
27 | 274 | 0.0985 | 4 | c.447 others(19): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 5/9 | chr13 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63387532 | C | CTTTT | intron_variant | MODIFIER | HG01168.hp2 HG01175.hp1 HG01192.hp1 others(29): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0022 a0001c0001t0002g0052 a0001c0001t0002g0053 others(29): Show |
32 | 148 | 0.2162 | 4 | c.83- others(19): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63400269 | G | GTATA | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG00741.hp1 others(41): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0016 | a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0015 others(37): Show |
44 | 367 | 0.1199 | 4 | c.168 others(21): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63400306 | T | TATAC | intron_variant | MODIFIER | HG02622.hp1 HG03209.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0161 a0001c0001t0011g0162 a0001c0001t0011g0163 |
3 | 355 | 0.0085 | 4 | c.168 others(21): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
ALG6_chr1_63362627_63443553 | 63422124 | T | TATAA | intron_variant | MODIFIER | HG01106.hp2 HG01358.hp1 HG01978.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0032 others(3): Show |
6 | 386 | 0.0155 | 4 | c.105 others(23): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |