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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CROCC_chr1_16916931_16977964 | 16938141 | TCTGTGTG others(4): Show |
T | intron_variant | MODIFIER | HG00544.hp1 HG01069.hp2 HG01071.hp2 others(64): Show |
a0001a0003a0006others(7): Show | a0001c0002a0001c0019a0001c0036others(11): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(17): Show | a0001c0002t0001g0118a0001c0002t0002g0015a0001c0002t0002g0160others(60): Show | 67 | 232 | 0.2888 | -11 | c.129 others(28): Show |
CROCC | ENSG00000058453.17 | transcript | ENST00000375541.10 | protein_coding | 10/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRPPA_chr7_16082525_16426538 | 16113970 | ATAAAGGA others(4): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0160 | 1 | 290 | 0.0035 | -11 | c.125 others(32): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 9/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16286037 | AAATATAA others(4): Show |
A | intron_variant | MODIFIER | HG02135.hp2 NA19074.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0174a0002c0002t0002g0275 | 2 | 290 | 0.0069 | -11 | c.836 others(28): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 5/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16286039 | ATATAAAT others(4): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01175.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0025a0001c0001t0003g0083 | 2 | 290 | 0.0069 | -11 | c.836 others(28): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 5/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16303477 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02647.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0008a0002c0002t0082 | a0001c0001t0003g0067a0002c0002t0008g0251a0002c0002t0008g0252others(2): Show | 5 | 290 | 0.0172 | -11 | c.790 others(28): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 4/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16340605 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0052 | 1 | 290 | 0.0035 | -11 | c.685 others(30): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16361994 | ACAGGCAC others(4): Show |
A | intron_variant | MODIFIER | NA18747.hp2 NA18950.hp1 NA18953.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0046a0002c0002t0002a0002c0002t0009others(4): Show | a0001c0001t0046g0004a0002c0002t0002g0227a0002c0002t0002g0229others(5): Show | 8 | 290 | 0.0276 | -11 | c.684 others(30): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16398225 | AACGTGAC others(4): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00597.hp2 others(167): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(89): Show | a0001c0001t0001g0173a0001c0001t0001g0183a0001c0001t0001g0194others(167): Show | 170 | 290 | 0.5862 | -11 | c.534 others(28): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 97944795 | ATTTGGCT others(4): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(77): Show | 80 | 204 | 0.3922 | -11 | c.225 others(28): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98002761 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02572.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0142others(2): Show | 5 | 204 | 0.0245 | -11 | c.224 others(28): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
CRTAC1_chr10_97860000_98035621 | 98024746 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG03225.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0022a0001c0002t0002g0021 | 2 | 204 | 0.0098 | -11 | c.24+ others(26): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 1/14 | chr10 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122861409 | TATATATA others(4): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG03579.hp1 NA18906.hp1 |
a0005 | a0005c0008a0005c0015 | a0005c0008t0001a0005c0008t0014a0005c0015t0004 | a0005c0008t0001g0177a0005c0008t0014g0285a0005c0015t0004g0045 | 3 | 428 | 0.0070 | -11 | c.653 others(28): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | chr11 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122861410 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG03471.hp1 HG03486.hp1 others(3): Show |
a0001a0005a0008 | a0001c0001a0005c0008a0008c0013 | a0001c0001t0001a0005c0008t0001a0008c0013t0011 | a0001c0001t0001g0021a0001c0001t0001g0097a0001c0001t0001g0118others(2): Show | 6 | 428 | 0.0140 | -11 | c.653 others(28): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122861412 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG04228.hp1 |
a0001a0010 | a0001c0001a0010c0020 | a0001c0001t0001a0010c0020t0005 | a0001c0001t0001g0087a0010c0020t0005g0233 | 2 | 428 | 0.0047 | -11 | c.653 others(28): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122861416 | ATATATTT others(4): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0357 | 1 | 428 | 0.0023 | -11 | c.653 others(28): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122861418 | ATATTTTT others(4): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0004 | a0004c0012 | a0004c0012t0009 | a0004c0012t0009g0239 | 1 | 428 | 0.0023 | -11 | c.653 others(28): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18698494 | ACTCAGCA others(4): Show |
A | intron_variant | MODIFIER | HG03654.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0079 | 2 | 274 | 0.0073 | -11 | c.126 others(30): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18706182 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02683.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0031a0001c0001t0031g0251 | 2 | 274 | 0.0073 | -11 | c.126 others(30): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18755593 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(61): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(61): Show | 64 | 274 | 0.2336 | -11 | c.624 others(28): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18786763 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0136 | 1 | 274 | 0.0037 | -11 | c.*93 others(22): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 4431 | chr19 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90533084 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00544.hp1 others(36): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(11): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0039others(36): Show | 39 | 276 | 0.1413 | -11 | c.132 others(28): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90579634 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 276 | 0.0036 | -11 | c.232 others(30): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRX_chr19_47816937_47848324 | 47827836 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02056.hp1 HG02056.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0061 | a0001c0001t0004g0080a0001c0001t0061g0081 | 2 | 344 | 0.0058 | -11 | c.-36 others(28): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRY1_chr12_106986364_107098549 | 107000300 | TAAATTTC others(4): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01516.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0063others(3): Show | 9 | 320 | 0.0281 | -11 | c.685 others(26): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 5/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107009562 | ACATATAT others(4): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00597.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0010 | a0001c0001t0001g0003a0001c0001t0001g0013a0001c0001t0001g0014others(38): Show | 42 | 320 | 0.1313 | -11 | c.268 others(28): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107009566 | ATATATAT others(4): Show |
A | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 320 | 0.0031 | -11 | c.268 others(28): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107086400 | TAAAAGAG others(4): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01192.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0175a0001c0002t0003g0176a0001c0002t0003g0177others(2): Show | 5 | 320 | 0.0156 | -11 | c.158 others(28): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
CRY2_chr11_45842475_45888244 | 45844938 | AAAAAAAC others(4): Show |
A | upstream_gene_variant | MODIFIER | HG02818.hp2 HG03471.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0128a0001c0001t0008g0129a0001c0001t0008g0130 | 3 | 368 | 0.0082 | -11 | c.-25 others(22): Show |
CRY2 | ENSG00000121671.12 | transcript | ENST00000616080.2 | protein_coding | 2536 | chr11 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26627424 | CTTTTTCT others(4): Show |
C | intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 402 | 0.0025 | -11 | c.301 others(26): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBB2_chr22_25214639_25236869 | 25218725 | AGAGAGAG others(4): Show |
A | upstream_gene_variant | MODIFIER | HG00558.hp1 HG02723.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0119a0001c0002t0001g0009 | 2 | 464 | 0.0043 | -11 | c.-96 others(20): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 913 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218764 | AGAGAGAG others(4): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp1 NA18993.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0047 | 3 | 464 | 0.0065 | -11 | c.-92 others(20): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 874 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218830 | GAAAGAAA others(4): Show |
G | upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 464 | 0.0022 | -11 | c.-86 others(20): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 808 | chr22 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106509925 | AGTACCAG others(4): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0030 | a0030c0047 | a0030c0047t0004 | a0030c0047t0004g0065 | 1 | 272 | 0.0037 | -11 | c.313 others(28): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106552582 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0174 | 1 | 272 | 0.0037 | -11 | c.547 others(28): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106572778 | TTTTGTTT others(4): Show |
T | downstream_gene_variant | MODIFIER | NA19030.hp1 | a0045 | a0045c0053 | a0045c0053t0003 | a0045c0053t0003g0227 | 1 | 272 | 0.0037 | -11 | c.*42 others(22): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 762 | chr6 | TogoVar | ||||||
CRYBG2_chr1_26316865_26359130 | 26350786 | TGTTCAGC others(4): Show |
T | intron_variant | MODIFIER | NA18949.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0049 | 2 | 376 | 0.0053 | -11 | c.-56 others(28): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20460511 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG02809.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0234a0001c0001t0002g0069a0001c0002t0001g0002others(4): Show | 7 | 250 | 0.0280 | -11 | c.277 others(30): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20508865 | AAAAAAAA others(4): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG01074.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0033a0001c0001t0001g0057a0001c0001t0001g0060others(35): Show | 38 | 250 | 0.1520 | -11 | c.149 others(28): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20521139 | AAGGAAGA others(4): Show |
A | intron_variant | MODIFIER | HG02818.hp2 HG02965.hp1 HG03225.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0033a0001c0001t0001g0071a0001c0001t0002g0224others(3): Show | 6 | 250 | 0.0240 | -11 | c.41+ others(26): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 1/7 | chr13 | TogoVar | ||||||
CSAD_chr12_53152663_53185925 | 53184115 | GTGTGTGT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG01099.hp1 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0008 | 2 | 334 | 0.0060 | -11 | c.-34 others(22): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 3191 | chr12 | TogoVar | ||||||
CSDE1_chr1_114711916_114762984 | 114738661 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0119 | 1 | 328 | 0.0031 | -11 | c.200 others(26): Show |
CSDE1 | ENSG00000009307.17 | transcript | ENST00000358528.9 | protein_coding | 3/19 | chr1 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49047564 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG03453.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0323a0001c0002t0001g0324 | 2 | 386 | 0.0052 | -11 | c.-12 others(28): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49067031 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(123): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0002c0003others(1): Show | a0001c0001t0001a0001c0010t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0011others(123): Show | 126 | 386 | 0.3264 | -11 | c.477 others(26): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49087167 | AGCAATAT others(4): Show |
A | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 386 | 0.0026 | -11 | c.172 others(28): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49097500 | GTTCATTG others(4): Show |
G | downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 386 | 0.0026 | -11 | c.*10 others(22): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 552 | chr20 | TogoVar | ||||||
CSF1_chr1_109905849_109935992 | 109906920 | TAGGAAGC others(4): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(249): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0001c0009others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(99): Show | 252 | 434 | 0.5807 | -11 | c.-41 others(22): Show |
CSF1 | ENSG00000184371.14 | transcript | ENST00000329608.11 | protein_coding | 3928 | chr1 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1285701 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 159 | 0.0063 | -11 | c.77- others(22): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1287624 | AGTAGAGA others(4): Show |
A | intron_variant | MODIFIER | NA19087.hp2 | a0010 | a0010c0012 | a0010c0012t0004 | a0010c0012t0004g0089 | 1 | 159 | 0.0063 | -11 | c.220 others(26): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1297741 | AGCCGTAG others(4): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01106.hp1 HG01175.hp1 others(22): Show |
a0001a0006a0011 | a0001c0001a0001c0002a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017others(22): Show | 25 | 159 | 0.1572 | -11 | c.810 others(28): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1297773 | CAACCCCC others(4): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG01070.hp2 others(20): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0018others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0064a0001c0001t0001g0095a0001c0001t0001g0096others(20): Show | 23 | 159 | 0.1447 | -11 | c.810 others(28): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | chrX | TogoVar |