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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRP_chr1_159707289_159719589 | 159714257 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0034a0001c0001t0001g0041others(10): Show | 231 | 434 | 0.5323 | -8 | c.62- others(21): Show |
CRP | ENSG00000132693.12 | transcript | ENST00000255030.9 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97894711 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01943.hp2 HG02615.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0176 | 3 | 204 | 0.0147 | -8 | c.148 others(25): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 11/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97919028 | ACCACCCC others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00642.hp1 others(20): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(4): Show | a0001c0001t0001g0062a0001c0001t0001g0088a0001c0001t0001g0203others(20): Show | 23 | 204 | 0.1128 | -8 | c.559 others(25): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 4/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97950233 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG02027.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0072 | 2 | 204 | 0.0098 | -8 | c.225 others(27): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97950242 | CACACAGA others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02647.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0008a0001c0002t0001g0145a0001c0003t0001g0095others(3): Show | 6 | 204 | 0.0294 | -8 | c.225 others(27): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97991120 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02109.hp1 others(12): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(7): Show | a0001c0001t0001g0038a0001c0001t0001g0041a0001c0001t0001g0047others(12): Show | 15 | 204 | 0.0735 | -8 | c.224 others(27): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98021010 | CTCATTCA others(1): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02109.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0020a0001c0001t0001g0038others(17): Show | 20 | 204 | 0.0980 | -8 | c.24+ others(23): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98032224 | TACACACA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00639.hp1 others(43): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0009a0001c0003t0001others(10): Show | a0001c0001t0001g0011a0001c0001t0001g0014a0001c0001t0001g0026others(43): Show | 46 | 204 | 0.2255 | -8 | c.-17 others(19): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1604 | chr10 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122837704 | AATGGATG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01261.hp1 HG02027.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(12): Show | a0001c0001t0001g0044a0001c0001t0001g0054a0001c0001t0001g0288others(34): Show | 38 | 428 | 0.0888 | -8 | c.-84 others(17): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 795 | chr11 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122837751 | GGATGGAT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01496.hp1 HG02015.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0003c0003t0003 | a0001c0001t0001g0006a0001c0001t0001g0090a0001c0001t0001g0346others(5): Show | 9 | 428 | 0.0210 | -8 | c.-79 others(17): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 748 | chr11 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122863321 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp1 others(61): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0002c0002t0007a0003c0003t0003others(2): Show | a0001c0001t0002g0313a0002c0002t0007g0332a0003c0003t0003g0004others(48): Show | 64 | 428 | 0.1495 | -8 | c.733 others(23): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122863347 | AAGAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(67): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0006others(4): Show | a0001c0001t0001g0248a0001c0001t0001g0260a0001c0001t0002g0022others(55): Show | 70 | 428 | 0.1636 | -8 | c.733 others(23): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122868188 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp1 others(69): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0005t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0012others(56): Show | 72 | 428 | 0.1682 | -8 | c.105 others(25): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18730959 | CTCCCTCC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(69): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(69): Show | 72 | 274 | 0.2628 | -8 | c.127 others(27): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18753275 | CTAAATAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(42): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0003others(7): Show | a0001c0001t0001g0070a0001c0001t0001g0135a0001c0001t0001g0159others(42): Show | 45 | 274 | 0.1642 | -8 | c.539 others(23): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90551936 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG01496.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(7): Show | a0001c0001t0001g0254a0001c0001t0003g0255a0001c0001t0011g0030others(10): Show | 13 | 276 | 0.0471 | -8 | c.231 others(27): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90556958 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02135.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0004a0002c0002t0004a0003c0003t0003 | a0001c0001t0004g0256a0002c0002t0004g0111a0002c0002t0004g0112others(1): Show | 4 | 276 | 0.0145 | -8 | c.231 others(27): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90564904 | ACCTTCCT others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00735.hp1 HG00735.hp2 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0177a0001c0001t0002g0146a0001c0001t0002g0151others(20): Show | 23 | 276 | 0.0833 | -8 | c.231 others(27): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRX_chr19_47816937_47848324 | 47818246 | CCCATCCA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG02258.hp2 HG02280.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0201a0001c0001t0001g0203a0001c0001t0001g0204others(13): Show | 16 | 344 | 0.0465 | -8 | c.-37 others(19): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 3690 | chr19 | TogoVar | ||||||
CRX_chr19_47816937_47848324 | 47818336 | TCCATCAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02818.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0065 | a0001c0001t0003g0025a0001c0001t0003g0293a0001c0001t0065g0300 | 4 | 344 | 0.0116 | -8 | c.-37 others(19): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 3600 | chr19 | TogoVar | ||||||
CRX_chr19_47816937_47848324 | 47828893 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01243.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(12): Show | a0001c0001t0002g0165a0001c0001t0003g0025a0001c0001t0003g0293others(19): Show | 26 | 344 | 0.0756 | -8 | c.-35 others(25): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRY1_chr12_106986364_107098549 | 107009595 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG01516.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0015a0001c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0026a0001c0001t0001g0083others(5): Show | 10 | 320 | 0.0313 | -8 | c.268 others(25): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107070666 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG01261.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0020a0001c0001t0001g0030a0001c0001t0001g0031others(7): Show | 11 | 320 | 0.0344 | -8 | c.158 others(27): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
CRY2_chr11_45842475_45888244 | 45878811 | TGGGAGGC others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG02698.hp1 HG02735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0037a0001c0001t0011g0103a0001c0001t0011g0132 | 4 | 368 | 0.0109 | -8 | c.*3- others(23): Show |
CRY2 | ENSG00000121671.12 | transcript | ENST00000616080.2 | protein_coding | 11/11 | chr11 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26627359 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG03471.hp2 NA18970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0053a0001c0001t0001g0056others(2): Show | 6 | 402 | 0.0149 | -8 | c.301 others(23): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBA4_chr22_26616963_26635669 | 26627488 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(112): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0021others(91): Show | 115 | 402 | 0.2861 | -8 | c.301 others(23): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBB2_chr22_25214639_25236869 | 25218730 | GAGAGGGG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01167.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0052a0001c0001t0001g0122a0001c0001t0001g0157others(2): Show | 7 | 464 | 0.0151 | -8 | c.-96 others(17): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 908 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218779 | GAAGAAAG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp2 HG01928.hp1 HG01928.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0011others(8): Show | 16 | 464 | 0.0345 | -8 | c.-91 others(17): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25226168 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00609.hp2 others(69): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0001 | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0001g0042others(31): Show | 72 | 464 | 0.1552 | -8 | c.173 others(25): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBB2_chr22_25214639_25236869 | 25229050 | GGTGTGCG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0012a0001c0001t0001g0019others(23): Show | 52 | 464 | 0.1121 | -8 | c.307 others(23): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106358213 | ATATATAT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00738.hp1 others(4): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0002c0003t0006others(4): Show | a0001c0001t0001g0043a0001c0001t0004g0067a0002c0003t0006g0044others(4): Show | 7 | 272 | 0.0257 | -8 | c.-26 others(19): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2503 | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106375417 | GTAAGTAA others(1): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG02109.hp1 others(11): Show |
a0002a0003a0004others(7): Show | a0002c0003a0003c0002a0004c0004others(7): Show | a0002c0003t0006a0003c0002t0005a0004c0004t0002others(8): Show | a0002c0003t0006g0060a0003c0002t0005g0082a0004c0004t0002g0107others(11): Show | 14 | 272 | 0.0515 | -8 | c.173 others(27): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106391928 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01175.hp2 NA19068.hp1 others(1): Show |
a0001a0002a0008 | a0001c0001a0002c0003a0008c0010 | a0001c0001t0001a0002c0003t0006a0008c0010t0004 | a0001c0001t0001g0033a0001c0001t0001g0198a0002c0003t0006g0045others(1): Show | 4 | 272 | 0.0147 | -8 | c.173 others(27): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106391964 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02976.hp2 HG03041.hp1 others(2): Show |
a0009a0013a0028others(2): Show | a0009c0012a0013c0016a0028c0043others(2): Show | a0009c0012t0002a0013c0016t0001a0028c0043t0013others(2): Show | a0009c0012t0002g0226a0013c0016t0001g0174a0028c0043t0013g0230others(2): Show | 5 | 272 | 0.0184 | -8 | c.173 others(27): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106515756 | AATTTATT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp2 HG01243.hp1 others(8): Show |
a0001a0007a0010others(2): Show | a0001c0001a0001c0022a0007c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0022t0002others(4): Show | a0001c0001t0001g0025a0001c0001t0001g0216a0001c0001t0003g0209others(8): Show | 11 | 272 | 0.0404 | -8 | c.192 others(27): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106517413 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01346.hp2 others(21): Show |
a0001a0006a0007others(8): Show | a0001c0009a0006c0005a0007c0007others(8): Show | a0001c0009t0004a0006c0005t0001a0006c0005t0003others(10): Show | a0001c0009t0004g0081a0006c0005t0001g0064a0006c0005t0001g0120others(21): Show | 24 | 272 | 0.0882 | -8 | c.192 others(27): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106547187 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(139): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0009a0001c0024others(38): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(46): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(139): Show | 142 | 272 | 0.5221 | -8 | c.531 others(27): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG2_chr1_26316865_26359130 | 26333014 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02559.hp1 others(8): Show |
a0002a0003a0004others(3): Show | a0002c0002a0003c0003a0003c0015others(5): Show | a0002c0002t0001a0003c0003t0001a0003c0015t0001others(5): Show | a0002c0002t0001g0305a0003c0003t0001g0193a0003c0015t0001g0031others(7): Show | 11 | 376 | 0.0293 | -8 | c.418 others(27): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 14/19 | chr1 | TogoVar | ||||||
CRYBG3_chr3_97817011_97949984 | 97841192 | GTGTATAT others(1): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG02145.hp1 others(4): Show |
a0001a0007a0034 | a0001c0003a0001c0004a0007c0009others(1): Show | a0001c0003t0002a0001c0004t0002a0007c0009t0005others(1): Show | a0001c0003t0002g0240a0001c0004t0002g0185a0007c0009t0005g0035others(3): Show | 7 | 316 | 0.0222 | -8 | c.150 others(25): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CRYBG3_chr3_97817011_97949984 | 97938528 | TCACATGC others(1): Show |
T | intron_variant | MODIFIER | HG01975.hp2 HG02723.hp2 HG02818.hp2 others(2): Show |
a0001a0032 | a0001c0003a0001c0004a0032c0038 | a0001c0003t0002a0001c0004t0002a0032c0038t0003 | a0001c0003t0002g0036a0001c0003t0002g0252a0001c0004t0002g0183others(1): Show | 5 | 316 | 0.0158 | -8 | c.850 others(27): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CRYGA_chr2_208155740_208168589 | 208161320 | GCACTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(102): Show |
a0001a0002a0006 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0014others(9): Show | 105 | 394 | 0.2665 | -8 | c.253 others(23): Show |
CRYGA | ENSG00000168582.5 | transcript | ENST00000304502.5 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
CRYGS_chr3_186533443_186549380 | 186534911 | AACACACA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01515.hp1 HG01516.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0022others(3): Show | 14 | 396 | 0.0354 | -8 | c.*37 others(19): Show |
CRYGS | ENSG00000213139.8 | transcript | ENST00000307944.6 | protein_coding | 3531 | chr3 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20420701 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0212a0001c0002t0001g0219 | 2 | 250 | 0.0080 | -8 | c.634 others(25): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20460511 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0065a0001c0001t0001g0087a0001c0001t0001g0120others(30): Show | 33 | 250 | 0.1320 | -8 | c.277 others(27): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20508868 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG01175.hp1 HG01346.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0030a0001c0001t0001g0112a0001c0001t0001g0118others(22): Show | 25 | 250 | 0.1000 | -8 | c.149 others(25): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20527325 | ATGTGTGT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01074.hp2 HG01168.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0087others(36): Show | 40 | 250 | 0.1600 | -8 | c.-15 others(19): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 1469 | chr13 | TogoVar | ||||||
CRYM_chr16_21253521_21283290 | 21281128 | CTCTCTCT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01074.hp2 HG01109.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0036a0001c0001t0001g0055others(27): Show | 48 | 394 | 0.1218 | -8 | c.-28 others(19): Show |
CRYM | ENSG00000103316.12 | transcript | ENST00000572914.2 | protein_coding | 2839 | chr16 | TogoVar | ||||||
CSAG2_chrX_152703261_152714273 | 152709605 | AAGAGAGA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 211 | 0.0047 | -8 | c.-50 others(17): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 333 | chrX | TogoVar | ||||||
CSAG2_chrX_152703261_152714273 | 152710821 | GATATATA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp2 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0002g0006others(5): Show | 30 | 211 | 0.1422 | -8 | c.-17 others(19): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 1549 | chrX | TogoVar | ||||||
CSDC2_chr22_41556010_41581666 | 41561045 | GACACACA others(1): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02280.hp2 HG02965.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0007 | 4 | 288 | 0.0139 | -8 | c.-23 others(17): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 1/4 | 10884 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |