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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRTAC1_chr10_97860000_98035621 | 97950238 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00609.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0028a0001c0001t0001g0063a0001c0001t0001g0070others(6): Show | 9 | 204 | 0.0441 | -10 | c.225 others(29): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97950242 | CACACAGA others(3): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 204 | 0.0049 | -10 | c.225 others(29): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97950246 | CAGAGAGA others(3): Show |
C | intron_variant | MODIFIER | HG00642.hp2 | a0003 | a0003c0011 | a0003c0011t0001 | a0003c0011t0001g0172 | 1 | 204 | 0.0049 | -10 | c.225 others(29): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97976024 | GAGGACCA others(3): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp1 HG02257.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001a0001c0004t0002 | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0104others(4): Show | 7 | 204 | 0.0343 | -10 | c.224 others(29): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97994011 | CATGCCTG others(3): Show |
C | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 204 | 0.0049 | -10 | c.224 others(29): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98002761 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 204 | 0.0049 | -10 | c.224 others(27): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98018199 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02965.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0010 | a0001c0001t0001a0001c0001t0009a0001c0006t0004others(1): Show | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0009g0204others(2): Show | 5 | 204 | 0.0245 | -10 | c.25- others(25): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98030527 | GCCTCTGC others(3): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 204 | 0.0049 | -10 | c.-65 others(17): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1/15 | 56 | chr10 | TogoVar | |||||
CRTAC1_chr10_97860000_98035621 | 98032224 | TACACACA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00621.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0010a0001c0001t0001g0083a0001c0001t0001g0086others(43): Show | 46 | 204 | 0.2255 | -10 | c.-17 others(21): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1604 | chr10 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122861386 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03540.hp2 NA19007.hp1 others(1): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0001a0002c0002t0007a0005c0008t0001 | a0001c0001t0001g0074a0001c0001t0001g0122a0002c0002t0007g0332others(1): Show | 4 | 428 | 0.0094 | -10 | c.653 others(27): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122861412 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG02970.hp2 |
a0002a0005 | a0002c0016a0005c0008 | a0002c0016t0001a0005c0008t0001 | a0002c0016t0001g0057a0005c0008t0001g0363 | 2 | 428 | 0.0047 | -10 | c.653 others(27): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122861414 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | NA19081.hp2 | a0007 | a0007c0009 | a0007c0009t0003 | a0007c0009t0003g0061 | 1 | 428 | 0.0023 | -10 | c.653 others(27): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122861418 | ATATTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 NA20300.hp2 |
a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0032a0004c0006t0004g0218 | 3 | 428 | 0.0070 | -10 | c.653 others(27): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122863262 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(60): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0014 | a0001c0001t0002a0003c0003t0003a0003c0003t0017others(1): Show | a0001c0001t0002g0313a0003c0003t0003g0004a0003c0003t0003g0005others(47): Show | 63 | 428 | 0.1472 | -10 | c.733 others(25): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122863311 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 428 | 0.0023 | -10 | c.733 others(25): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122863341 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01346.hp2 HG01358.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0012a0002c0002t0001 | a0001c0001t0002g0028a0001c0001t0002g0156a0001c0001t0002g0157others(10): Show | 14 | 428 | 0.0327 | -10 | c.733 others(25): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122868188 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00738.hp1 others(27): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0019a0001c0001t0001g0067others(22): Show | 30 | 428 | 0.0701 | -10 | c.105 others(27): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18755593 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 274 | 0.0037 | -10 | c.624 others(27): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90533084 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01496.hp2 HG02055.hp2 HG02572.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(4): Show | a0001c0001t0001g0036a0001c0001t0010g0035a0001c0001t0011g0030others(5): Show | 8 | 276 | 0.0290 | -10 | c.132 others(27): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90551934 | ACACACAC others(3): Show |
A | intron_variant | MODIFIER | HG02717.hp2 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0032a0002c0002t0007 | a0001c0001t0032g0033a0002c0002t0007g0130 | 2 | 276 | 0.0073 | -10 | c.231 others(29): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90556958 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02698.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0019 | a0001c0001t0001g0187a0001c0001t0006g0051a0001c0001t0019g0028 | 3 | 276 | 0.0109 | -10 | c.231 others(29): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90568577 | CTGGCCTT others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02258.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0014others(1): Show | a0001c0001t0011a0001c0001t0019a0001c0001t0040others(5): Show | a0001c0001t0011g0030a0001c0001t0011g0034a0001c0001t0019g0028others(7): Show | 10 | 276 | 0.0362 | -10 | c.232 others(29): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90577029 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(165): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0007others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0036others(162): Show | 168 | 276 | 0.6087 | -10 | c.232 others(29): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90621169 | AAAACAAA others(3): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02135.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0205a0001c0007t0001g0206 | 2 | 276 | 0.0073 | -10 | c.749 others(27): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90640555 | GCATGTGG others(3): Show |
G | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0225 | 1 | 276 | 0.0036 | -10 | c.154 others(27): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90644974 | AGGGGTTT others(3): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02074.hp1 | a0006 | a0006c0011 | a0006c0011t0043 | a0006c0011t0043g0083 | 1 | 276 | 0.0036 | -10 | c.*28 others(21): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 15/15 | 2836 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||
CRTC3_chr15_90524923_90650345 | 90647265 | CTCCTCCT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 276 | 0.0036 | -10 | c.*51 others(21): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1921 | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647349 | CTCCTCCT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 276 | 0.0036 | -10 | c.*52 others(21): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2005 | chr15 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647409 | CCTCACCC others(3): Show |
C | downstream_gene_variant | MODIFIER | NA19086.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0215 | 1 | 276 | 0.0036 | -10 | c.*52 others(21): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2065 | chr15 | TogoVar | ||||||
CRX_chr19_47816937_47848324 | 47827836 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 344 | 0.0029 | -10 | c.-36 others(27): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRX_chr19_47816937_47848324 | 47828893 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02723.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0032a0001c0001t0035others(4): Show | a0001c0001t0013g0020a0001c0001t0013g0255a0001c0001t0013g0256others(7): Show | 10 | 344 | 0.0291 | -10 | c.-35 others(27): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRX_chr19_47816937_47848324 | 47848203 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0211 | 1 | 344 | 0.0029 | -10 | c.*82 others(21): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 4880 | chr19 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107009593 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00597.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0012others(72): Show | 78 | 320 | 0.2438 | -10 | c.268 others(27): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107098198 | CAAGAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0204 | 1 | 320 | 0.0031 | -10 | c.-52 others(21): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 4650 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107098202 | AAAAGGAA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(110): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0014others(108): Show | 113 | 320 | 0.3531 | -10 | c.-52 others(21): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 4654 | chr12 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26624219 | AAAGTAAA others(3): Show |
A | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 402 | 0.0025 | -10 | c.158 others(25): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBA4_chr22_26616963_26635669 | 26627416 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00642.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0015others(14): Show | 24 | 402 | 0.0597 | -10 | c.301 others(25): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBA4_chr22_26616963_26635669 | 26627478 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(117): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(74): Show | 120 | 402 | 0.2985 | -10 | c.301 others(25): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBA4_chr22_26616963_26635669 | 26629734 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(131): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(83): Show | 134 | 402 | 0.3333 | -10 | c.444 others(25): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBB1_chr22_26594278_26623027 | 26605448 | TAGATCAC others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(111): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0011others(57): Show | 114 | 426 | 0.2676 | -10 | c.432 others(27): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 4/5 | chr22 | TogoVar | ||||||
CRYBB1_chr22_26594278_26623027 | 26611459 | TTTTTTTT others(3): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01255.hp1 HG01346.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0058others(8): Show | 20 | 426 | 0.0470 | -10 | c.299 others(25): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 3/5 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218725 | AGAGAGAG others(3): Show |
A | upstream_gene_variant | MODIFIER | HG03195.hp1 NA19030.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0053a0001c0001t0001g0159a0001c0002t0001g0158 | 3 | 464 | 0.0065 | -10 | c.-96 others(19): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 913 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218730 | GAGAGGGG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01975.hp2 HG01981.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0135a0001c0002t0001g0003a0001c0002t0001g0009others(3): Show | 12 | 464 | 0.0259 | -10 | c.-96 others(19): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 908 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218732 | GAGGGGAG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 464 | 0.0022 | -10 | c.-96 others(19): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 906 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218736 | GGAGAGAG others(3): Show |
G | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 464 | 0.0022 | -10 | c.-95 others(19): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 902 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218777 | GAGAAGAA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 464 | 0.0022 | -10 | c.-91 others(19): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 861 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25226168 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(207): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(65): Show | 210 | 464 | 0.4526 | -10 | c.173 others(27): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBB2_chr22_25214639_25236869 | 25231321 | CCAGTACA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp2 others(58): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0019others(30): Show | 61 | 464 | 0.1315 | -10 | c.450 others(25): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBB2_chr22_25214639_25236869 | 25231903 | GGTGTGTG others(3): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 464 | 0.0022 | -10 | c.*13 others(19): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 35 | chr22 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106358211 | ATATATAT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02559.hp2 HG03098.hp1 others(4): Show |
a0001a0005a0014others(2): Show | a0001c0001a0005c0006a0014c0017others(2): Show | a0001c0001t0001a0005c0006t0003a0014c0017t0003others(2): Show | a0001c0001t0001g0193a0001c0001t0001g0207a0005c0006t0003g0145others(4): Show | 7 | 272 | 0.0257 | -10 | c.-26 others(21): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2505 | chr6 | TogoVar |