| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CRPPA_chr7_16082525_16426538 | 16254792 | G | GGAAGGAA others(4): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0187 | 1 | 290 | 0.0035 | 11 | c.111 others(30): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 8/9 | chr7 | TogoVar | ||||||
| CRPPA_chr7_16082525_16426538 | 16286020 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0056 | 1 | 290 | 0.0035 | 11 | c.836 others(28): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 5/9 | chr7 | TogoVar | ||||||
| CRPPA_chr7_16082525_16426538 | 16286562 | A | ATCAACGG others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(236): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(112): Show | a0001c0001t0001g0055a0001c0001t0001g0070a0001c0001t0001g0072others(236): Show | 239 | 290 | 0.8241 | 11 | c.836 others(28): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 5/9 | chr7 | TogoVar | ||||||
| CRPPA_chr7_16082525_16426538 | 16303491 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG03688.hp2 NA18991.hp1 NA19090.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0046a0002c0002t0004a0003c0005t0022 | a0001c0001t0046g0004a0002c0002t0004g0245a0003c0005t0022g0210 | 3 | 290 | 0.0103 | 11 | c.790 others(28): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 4/9 | chr7 | TogoVar | ||||||
| CRPPA_chr7_16082525_16426538 | 16342776 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG02135.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0026a0001c0001t0083others(4): Show | a0001c0001t0002g0025a0001c0001t0002g0174a0001c0001t0026g0199others(6): Show | 9 | 290 | 0.0310 | 11 | c.684 others(30): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
| CRPPA_chr7_16082525_16426538 | 16342778 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0131 | 1 | 290 | 0.0035 | 11 | c.684 others(30): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
| CRPPA_chr7_16082525_16426538 | 16389913 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG00733.hp1 others(19): Show |
a0002a0005 | a0002c0002a0005c0010 | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(12): Show | a0002c0002t0001g0240a0002c0002t0001g0241a0002c0002t0001g0242others(19): Show | 22 | 290 | 0.0759 | 11 | c.535 others(30): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
| CRPPA_chr7_16082525_16426538 | 16389924 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01175.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0083a0001c0001t0003g0136 | 2 | 290 | 0.0069 | 11 | c.535 others(30): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
| CRPPA_chr7_16082525_16426538 | 16389926 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03927.hp2 NA19066.hp1 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0139a0001c0001t0004g0061a0001c0001t0009g0084 | 3 | 290 | 0.0103 | 11 | c.535 others(30): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
| CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02647.hp2 |
a0002 | a0002c0002 | a0002c0002t0008a0002c0002t0082 | a0002c0002t0008g0253a0002c0002t0082g0250 | 2 | 290 | 0.0069 | 11 | c.535 others(30): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
| CRPPA_chr7_16082525_16426538 | 16389928 | A | AAAAAAAT others(4): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0050 | 1 | 290 | 0.0035 | 11 | c.535 others(30): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
| CRPPA_chr7_16082525_16426538 | 16389928 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 290 | 0.0035 | 11 | c.535 others(30): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 2/9 | chr7 | TogoVar | ||||||
| CRTAC1_chr10_97860000_98035621 | 97919771 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG01099.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0007a0001c0004t0001others(4): Show | a0001c0001t0001g0049a0001c0001t0001g0086a0001c0001t0001g0104others(9): Show | 12 | 204 | 0.0588 | 11 | c.559 others(28): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 4/14 | chr10 | TogoVar | ||||||
| CRTAC1_chr10_97860000_98035621 | 98002761 | C | CTGTTTTT others(4): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 204 | 0.0049 | 11 | c.224 others(28): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
| CRTAC1_chr10_97860000_98035621 | 98005098 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02809.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0082a0001c0001t0001g0101a0001c0001t0003g0067 | 3 | 204 | 0.0147 | 11 | c.224 others(28): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
| CRTAC1_chr10_97860000_98035621 | 98005100 | A | ATATATTT others(4): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0015 | 1 | 204 | 0.0049 | 11 | c.224 others(28): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
| CRTAC1_chr10_97860000_98035621 | 98005100 | A | ATATTTTT others(4): Show |
intron_variant | MODIFIER | HG03195.hp1 HG06807.hp1 NA18971.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0048a0001c0001t0001g0076a0001c0001t0002g0080 | 3 | 204 | 0.0147 | 11 | c.224 others(28): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
| CRTAC1_chr10_97860000_98035621 | 98005100 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG04228.hp1 NA18972.hp1 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065a0001c0001t0001g0073a0001c0001t0001g0122 | 3 | 204 | 0.0147 | 11 | c.224 others(28): Show |
CRTAC1 | ENSG00000095713.14 | transcript | ENST00000370597.8 | protein_coding | 2/14 | chr10 | TogoVar | ||||||
| CRTAM_chr11_122833500_122877643 | 122861420 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0328 | 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 | 122875436 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | NA18956.hp1 NA18994.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0094a0001c0001t0001g0114a0001c0001t0008g0002 | 3 | 428 | 0.0070 | 11 | c.*40 others(22): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 2794 | chr11 | TogoVar | ||||||
| CRTAM_chr11_122833500_122877643 | 122875438 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 HG02922.hp2 HG03195.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0007 | a0001c0001t0001g0108a0001c0001t0001g0120a0002c0002t0007g0062others(1): Show | 4 | 428 | 0.0094 | 11 | c.*40 others(22): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 2796 | chr11 | TogoVar | ||||||
| CRTAM_chr11_122833500_122877643 | 122875440 | A | ATATATAT others(4): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01358.hp2 NA19060.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109a0001c0001t0001g0131a0001c0001t0001g0132others(1): Show | 4 | 428 | 0.0094 | 11 | c.*40 others(22): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 2798 | chr11 | TogoVar | ||||||
| CRTC1_chr19_18678680_18787333 | 18706182 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0160 | 1 | 274 | 0.0037 | 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 | 18727580 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00609.hp1 others(20): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0073others(20): Show | 23 | 274 | 0.0839 | 11 | c.127 others(30): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CRTC1_chr19_18678680_18787333 | 18728815 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02922.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0010a0001c0001t0004g0011a0001c0001t0011g0014 | 3 | 274 | 0.0110 | 11 | c.127 others(30): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CRTC3_chr15_90524923_90650345 | 90630756 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0038 | a0002c0002t0038g0085 | 1 | 276 | 0.0036 | 11 | c.126 others(30): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CRTC3_chr15_90524923_90650345 | 90647293 | C | CCCACTTC others(4): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01123.hp2 HG01167.hp2 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0023a0001c0001t0024others(3): Show | a0001c0001t0002g0143a0001c0001t0002g0146a0001c0001t0002g0151others(31): Show | 34 | 276 | 0.1232 | 11 | c.*51 others(22): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1949 | chr15 | TogoVar | ||||||
| CRTC3_chr15_90524923_90650345 | 90647350 | T | TTCTATTC others(4): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01123.hp2 HG01167.hp2 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0023a0001c0001t0024others(3): Show | a0001c0001t0002g0143a0001c0001t0002g0146a0001c0001t0002g0151others(30): Show | 33 | 276 | 0.1196 | 11 | c.*52 others(22): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2006 | chr15 | TogoVar | ||||||
| CRX_chr19_47816937_47848324 | 47832105 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01358.hp1 HG02280.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(6): Show | a0001c0001t0002g0139a0001c0001t0002g0176a0001c0001t0006g0014others(12): Show | 15 | 344 | 0.0436 | 11 | c.-35 others(28): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CRX_chr19_47816937_47848324 | 47842719 | A | AAAATTCA others(4): Show |
3_prime_UTR_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0098 | 1 | 344 | 0.0029 | 11 | c.*27 others(22): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 4/4 | 2753 | chr19 | TogoVar | |||||
| CRX_chr19_47816937_47848324 | 47844574 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01081.hp1 others(33): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0002a0001c0001t0011a0001c0001t0020others(7): Show | a0001c0001t0002g0016a0001c0001t0002g0024a0001c0001t0002g0038others(32): Show | 36 | 344 | 0.1047 | 11 | c.*46 others(22): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1251 | chr19 | TogoVar | ||||||
| CRY1_chr12_106986364_107098549 | 107069613 | A | AAGTATAT others(4): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0309 | 1 | 320 | 0.0031 | 11 | c.158 others(30): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
| CRY2_chr11_45842475_45888244 | 45881751 | T | TGAAGGGG others(4): Show |
3_prime_UTR_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0078 | 1 | 368 | 0.0027 | 11 | c.*84 others(20): Show |
CRY2 | ENSG00000121671.12 | transcript | ENST00000616080.2 | protein_coding | 12/12 | 9533 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
| CRYBA4_chr22_26616963_26635669 | 26629734 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02647.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0098a0001c0001t0001g0103others(2): Show | 5 | 402 | 0.0124 | 11 | c.444 others(26): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CRYBB2_chr22_25214639_25236869 | 25218714 | G | GAGGAGAG others(4): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 464 | 0.0022 | 11 | c.-97 others(20): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 924 | chr22 | TogoVar | ||||||
| CRYBB2_chr22_25214639_25236869 | 25218778 | A | AAAGAAAG others(4): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 HG02074.hp1 HG02273.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0012a0001c0001t0001g0016a0001c0001t0001g0033others(6): Show | 16 | 464 | 0.0345 | 11 | c.-91 others(20): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 860 | chr22 | TogoVar | ||||||
| CRYBB2_chr22_25214639_25236869 | 25218779 | G | GAGAGAGA others(4): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG02809.hp2 NA18945.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0144a0002c0003t0001g0006a0002c0003t0001g0029 | 3 | 464 | 0.0065 | 11 | c.-91 others(20): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | ||||||
| CRYBB2_chr22_25214639_25236869 | 25218779 | G | GAGAGAGA others(4): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0153 | 1 | 464 | 0.0022 | 11 | c.-91 others(20): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | ||||||
| CRYBB2_chr22_25214639_25236869 | 25218780 | A | AAAGAAAG others(4): Show |
upstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 464 | 0.0022 | 11 | c.-91 others(20): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 858 | chr22 | TogoVar | ||||||
| CRYBG1_chr6_106355717_106577017 | 106386853 | A | ACCTTAAT others(4): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0007 | a0007c0007 | a0007c0007t0004 | a0007c0007t0004g0188 | 1 | 272 | 0.0037 | 11 | c.173 others(30): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CRYBG1_chr6_106355717_106577017 | 106409035 | A | AGAGAAAG others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02818.hp2 HG02886.hp1 others(6): Show |
a0009a0013a0018others(5): Show | a0009c0012a0013c0016a0018c0037others(5): Show | a0009c0012t0002a0013c0016t0001a0018c0037t0001others(5): Show | a0009c0012t0002g0226a0013c0016t0001g0136a0013c0016t0001g0174others(6): Show | 9 | 272 | 0.0331 | 11 | c.174 others(30): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CRYBG1_chr6_106355717_106577017 | 106535757 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA18942.hp2 NA19010.hp1 |
a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0079a0005c0006t0003g0146 | 2 | 272 | 0.0074 | 11 | c.471 others(30): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CRYBG1_chr6_106355717_106577017 | 106566464 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01255.hp1 HG02135.hp1 others(1): Show |
a0005 | a0005c0006a0005c0008 | a0005c0006t0003a0005c0008t0003 | a0005c0006t0003g0038a0005c0008t0003g0051a0005c0008t0003g0138others(1): Show | 4 | 272 | 0.0147 | 11 | c.630 others(30): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CRYBG2_chr1_26316865_26359130 | 26333014 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02109.hp1 NA19030.hp1 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0237a0003c0003t0002g0255 | 2 | 376 | 0.0053 | 11 | c.418 others(30): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 14/19 | chr1 | TogoVar | ||||||
| CRYGN_chr7_151423832_151445141 | 151428290 | C | CTTCTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 HG03225.hp2 HG03453.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0021a0001c0001t0004g0033others(3): Show | 7 | 452 | 0.0155 | 11 | c.*17 others(22): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 541 | chr7 | TogoVar | ||||||
| CRYL1_chr13_20398669_20530857 | 20420700 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 250 | 0.0040 | 11 | c.634 others(28): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
| CRYL1_chr13_20398669_20530857 | 20456638 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03486.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0217a0001c0002t0002g0100a0001c0002t0002g0205 | 3 | 250 | 0.0120 | 11 | c.277 others(30): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
| CRYL1_chr13_20398669_20530857 | 20470910 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp2 HG02897.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0238a0001c0001t0002g0233a0001c0003t0001g0024 | 3 | 250 | 0.0120 | 11 | c.276 others(30): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
| CRYL1_chr13_20398669_20530857 | 20521140 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 250 | 0.0040 | 11 | c.41+ others(26): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 1/7 | chr13 | TogoVar | ||||||
| CRYZL1_chr21_33584341_33646741 | 33605530 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 360 | 0.0028 | 11 | c.332 others(28): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 6/12 | chr21 | TogoVar |