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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRTAM_chr11_122833500_122877643 | 122861412 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01258.hp2 HG01934.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0002a0001c0001t0008g0086 | 5 | 428 | 0.0117 | -12 | c.653 others(29): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122863343 | AAGAAAGA others(5): Show |
A | intron_variant | MODIFIER | NA19006.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0255 | 1 | 428 | 0.0023 | -12 | c.733 others(27): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAM_chr11_122833500_122877643 | 122868188 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG01257.hp1 NA19240.hp1 |
a0001a0009 | a0001c0001a0009c0011 | a0001c0001t0001a0009c0011t0001 | a0001c0001t0001g0113a0009c0011t0001g0238 | 2 | 428 | 0.0047 | -12 | c.105 others(29): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CRTAP_chr3_33109014_33152773 | 33122709 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0007a0001c0005t0007 | a0001c0001t0007g0190a0001c0005t0007g0274 | 2 | 408 | 0.0049 | -12 | c.622 others(29): Show |
CRTAP | ENSG00000170275.15 | transcript | ENST00000320954.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CRTAP_chr3_33109014_33152773 | 33127439 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00423.hp1 others(106): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(18): Show | a0001c0001t0001g0165a0001c0002t0001g0006a0001c0002t0001g0007others(86): Show | 109 | 408 | 0.2672 | -12 | c.794 others(29): Show |
CRTAP | ENSG00000170275.15 | transcript | ENST00000320954.11 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CRTC1_chr19_18678680_18787333 | 18706182 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02080.hp1 HG02109.hp1 HG02148.hp1 others(20): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0010 | a0001c0001t0001a0002c0002t0003a0006c0010t0001 | a0001c0001t0001g0073a0001c0001t0001g0079a0001c0001t0001g0128others(20): Show | 23 | 274 | 0.0839 | -12 | c.126 others(31): Show |
CRTC1 | ENSG00000105662.16 | transcript | ENST00000321949.13 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90533084 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(53): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0009others(3): Show | a0001c0001t0001a0001c0001t0035a0002c0002t0001others(15): Show | a0001c0001t0001g0059a0001c0001t0035g0061a0002c0002t0001g0027others(53): Show | 56 | 276 | 0.2029 | -12 | c.132 others(29): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90551932 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG03139.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0012 | a0001c0001t0001a0001c0001t0007a0008c0012t0021 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0007g0120others(1): Show | 4 | 276 | 0.0145 | -12 | c.231 others(31): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90556958 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02723.hp2 HG03540.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0040others(1): Show | a0001c0001t0001g0048a0001c0001t0006g0047a0001c0001t0006g0050others(2): Show | 5 | 276 | 0.0181 | -12 | c.231 others(31): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90564904 | ACCTTCCT others(5): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02559.hp1 HG02615.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0012others(4): Show | a0001c0001t0001g0254a0001c0001t0002g0183a0002c0002t0012g0136others(7): Show | 10 | 276 | 0.0362 | -12 | c.231 others(31): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90612070 | TCCTCCTC others(5): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 276 | 0.0036 | -12 | c.578 others(29): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CRX_chr19_47816937_47848324 | 47828893 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(28): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0109a0001c0001t0001g0137a0001c0001t0001g0138others(28): Show | 31 | 344 | 0.0901 | -12 | c.-35 others(29): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRY1_chr12_106986364_107098549 | 107009591 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02630.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0006 | a0001c0001t0001g0145a0001c0001t0001g0146a0001c0001t0001g0147others(4): Show | 7 | 320 | 0.0219 | -12 | c.268 others(29): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107070666 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0061others(3): Show | 6 | 320 | 0.0188 | -12 | c.158 others(31): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
CRY2_chr11_45842475_45888244 | 45844937 | AAAAAAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02683.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0039a0001c0001t0003g0161a0001c0001t0003g0166others(3): Show | 7 | 368 | 0.0190 | -12 | c.-25 others(23): Show |
CRY2 | ENSG00000121671.12 | transcript | ENST00000616080.2 | protein_coding | 2537 | chr11 | TogoVar | ||||||
CRYBA4_chr22_26616963_26635669 | 26627359 | CCTTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG02523.hp1 HG03688.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105a0001c0001t0001g0210a0001c0001t0001g0211 | 3 | 402 | 0.0075 | -12 | c.301 others(27): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBA4_chr22_26616963_26635669 | 26627488 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00558.hp2 others(94): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0010others(74): Show | 97 | 402 | 0.2413 | -12 | c.301 others(27): Show |
CRYBA4 | ENSG00000196431.4 | transcript | ENST00000354760.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBB1_chr22_26594278_26623027 | 26609397 | AATGGGTG others(5): Show |
A | intron_variant | MODIFIER | NA18984.hp1 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0134 | 2 | 426 | 0.0047 | -12 | c.300 others(29): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 3/5 | chr22 | TogoVar | ||||||
CRYBB1_chr22_26594278_26623027 | 26621896 | TTTGTCTC others(5): Show |
T | upstream_gene_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 426 | 0.0024 | -12 | c.-39 others(23): Show |
CRYBB1 | ENSG00000100122.7 | transcript | ENST00000647684.1 | protein_coding | 3870 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218726 | GAGAGAGA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 464 | 0.0022 | -12 | c.-96 others(21): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 912 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218730 | GAGAGGGG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02129.hp1 NA19003.hp1 NA19057.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003a0001c0002t0001g0009a0001c0002t0001g0121 | 5 | 464 | 0.0108 | -12 | c.-96 others(21): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 908 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218732 | GAGGGGAG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 464 | 0.0022 | -12 | c.-96 others(21): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 906 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25218779 | GAAGAAAG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00741.hp2 HG01261.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0020a0001c0001t0001g0094a0001c0001t0001g0101others(2): Show | 5 | 464 | 0.0108 | -12 | c.-91 others(21): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 859 | chr22 | TogoVar | ||||||
CRYBB2_chr22_25214639_25236869 | 25226168 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG02622.hp2 NA18939.hp1 NA18994.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0054a0001c0001t0001g0116a0001c0002t0001g0059others(1): Show | 6 | 464 | 0.0129 | -12 | c.173 others(29): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106358209 | ATATATAT others(5): Show |
A | upstream_gene_variant | MODIFIER | NA18956.hp2 NA18986.hp1 NA19063.hp1 others(1): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0004 | a0001c0001t0001a0001c0001t0005a0003c0002t0005others(1): Show | a0001c0001t0001g0108a0001c0001t0005g0214a0003c0002t0005g0005others(1): Show | 4 | 272 | 0.0147 | -12 | c.-26 others(23): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2507 | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106375413 | GTAAGTAA others(5): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG02109.hp2 HG02145.hp2 others(19): Show |
a0001a0002a0004others(13): Show | a0001c0022a0002c0003a0004c0004others(13): Show | a0001c0022t0002a0002c0003t0003a0002c0003t0006others(16): Show | a0001c0022t0002g0212a0002c0003t0003g0223a0002c0003t0003g0224others(19): Show | 22 | 272 | 0.0809 | -12 | c.173 others(31): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106391928 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00733.hp1 HG00738.hp2 others(48): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0009a0002c0003others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0016a0001c0001t0001g0026a0001c0001t0001g0090others(48): Show | 51 | 272 | 0.1875 | -12 | c.173 others(31): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106391960 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0059 | a0059c0028 | a0059c0028t0002 | a0059c0028t0002g0091 | 1 | 272 | 0.0037 | -12 | c.173 others(31): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106405677 | CCAGAAGA others(5): Show |
C | intron_variant | MODIFIER | NA18974.hp2 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0202 | 1 | 272 | 0.0037 | -12 | c.173 others(31): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106421893 | AAAGAGCT others(5): Show |
A | intron_variant | MODIFIER | HG02647.hp2 NA19043.hp1 NA20300.hp2 |
a0003a0009a0022 | a0003c0038a0009c0012a0022c0040 | a0003c0038t0007a0009c0012t0002a0022c0040t0001 | a0003c0038t0007g0144a0009c0012t0002g0272a0022c0040t0001g0112 | 3 | 272 | 0.0110 | -12 | c.174 others(31): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106433733 | ATACATAT others(5): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02056.hp2 HG02572.hp2 others(3): Show |
a0001a0003a0046others(1): Show | a0001c0001a0003c0002a0046c0064others(1): Show | a0001c0001t0001a0003c0002t0005a0046c0064t0001others(1): Show | a0001c0001t0001g0113a0001c0001t0001g0140a0001c0001t0001g0165others(3): Show | 6 | 272 | 0.0221 | -12 | c.174 others(31): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG1_chr6_106355717_106577017 | 106515756 | AATTTATT others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02723.hp1 others(1): Show |
a0017a0019 | a0017c0019a0019c0020 | a0017c0019t0001a0019c0020t0007 | a0017c0019t0001g0070a0017c0019t0001g0073a0019c0020t0007g0080others(1): Show | 4 | 272 | 0.0147 | -12 | c.192 others(31): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYGB_chr2_208137573_208151158 | 208143609 | TCTCCTGC others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(129): Show |
a0001a0003a0004 | a0001c0002a0001c0003a0003c0005others(1): Show | a0001c0002t0001a0001c0003t0001a0003c0005t0001others(1): Show | a0001c0002t0001g0003a0001c0002t0001g0004a0001c0002t0001g0013others(21): Show | 132 | 414 | 0.3188 | -12 | c.253 others(27): Show |
CRYGB | ENSG00000182187.4 | transcript | ENST00000260988.5 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20420701 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 250 | 0.0040 | -12 | c.634 others(29): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20471612 | AAAAGGAA others(5): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 250 | 0.0040 | -12 | c.276 others(31): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20508864 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0216a0001c0001t0002g0069 | 2 | 250 | 0.0080 | -12 | c.149 others(29): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | ||||||
CRYM_chr16_21253521_21283290 | 21279800 | AAGTGTCA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 | 1 | 394 | 0.0025 | -12 | c.-15 others(23): Show |
CRYM | ENSG00000103316.12 | transcript | ENST00000572914.2 | protein_coding | 1511 | chr16 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74702929 | AGTGTGTG others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01106.hp2 HG01978.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0163 | 4 | 372 | 0.0108 | -12 | c.*33 others(23): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 2556 | chr1 | TogoVar | ||||||
CSAD_chr12_53152663_53185925 | 53173278 | GGAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0071 | 1 | 334 | 0.0030 | -12 | c.126 others(25): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 4/16 | chr12 | TogoVar | ||||||
CSAD_chr12_53152663_53185925 | 53184114 | GGTGTGTG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 334 | 0.0030 | -12 | c.-34 others(23): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 3190 | chr12 | TogoVar | ||||||
CSAD_chr12_53152663_53185925 | 53184140 | TGTGTGTG others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00609.hp2 others(54): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0015 | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0012others(10): Show | 57 | 334 | 0.1707 | -12 | c.-35 others(23): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 3216 | chr12 | TogoVar | ||||||
CSAD_chr12_53152663_53185925 | 53184146 | TGTGTGCG others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02559.hp1 HG03130.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005a0001c0001t0003g0052a0001c0001t0003g0053 | 3 | 334 | 0.0090 | -12 | c.-35 others(23): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 3222 | chr12 | TogoVar | ||||||
CSAD_chr12_53152663_53185925 | 53184176 | GGTGTGTG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 334 | 0.0030 | -12 | c.-35 others(23): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 3252 | chr12 | TogoVar | ||||||
CSDC2_chr22_41556010_41581666 | 41566441 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0109 | 1 | 288 | 0.0035 | -12 | c.-12 others(31): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CSDC2_chr22_41556010_41581666 | 41572343 | TCCACCCA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01261.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(5): Show | a0001c0001t0001g0009a0001c0001t0001g0011a0001c0001t0001g0090others(20): Show | 30 | 288 | 0.1042 | -12 | c.176 others(27): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CSDC2_chr22_41556010_41581666 | 41572379 | CCCACCCA others(5): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0087 | 1 | 288 | 0.0035 | -12 | c.176 others(27): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CSDC2_chr22_41556010_41581666 | 41572387 | CCCATCCA others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02559.hp1 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0026 | a0001c0001t0009g0020a0001c0001t0009g0068a0001c0001t0009g0069others(1): Show | 5 | 288 | 0.0174 | -12 | c.176 others(27): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49056847 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG01106.hp1 others(48): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0265others(46): Show | 51 | 386 | 0.1321 | -12 | c.-11 others(29): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49067031 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 386 | 0.0026 | -12 | c.477 others(27): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CSE1L_chr20_49041312_49101949 | 49097938 | ATTTTTTT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 386 | 0.0026 | -12 | c.*15 others(23): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 990 | chr20 | TogoVar |