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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEMIP2_chr9_71678366_71773513 | 71714366 | G | GTGATGAT others(8): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01167.hp1 HG01169.hp2 others(20): Show |
a0005a0006a0008 | a0005c0004a0006c0033a0008c0011 | a0005c0004t0001a0005c0004t0007a0005c0004t0011others(8): Show | a0005c0004t0001g0233a0005c0004t0007g0131a0005c0004t0011g0005others(20): Show | 23 | 320 | 0.0719 | 15 | c.259 others(32): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 15/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71732686 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0006 | a0006c0006 | a0006c0006t0024 | a0006c0006t0024g0289 | 1 | 320 | 0.0031 | 15 | c.139 others(32): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 6/23 | chr9 | TogoVar | ||||||
CEMIP2_chr9_71678366_71773513 | 71755381 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0005 | a0005c0004 | a0005c0004t0011 | a0005c0004t0011g0009 | 1 | 320 | 0.0031 | 15 | c.-12 others(32): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80839289 | A | ATGTGTGT others(8): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0246 | 1 | 254 | 0.0039 | 15 | c.-17 others(36): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80900591 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0122 | 1 | 254 | 0.0039 | 15 | c.141 others(34): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CEMIP_chr15_80774370_80956771 | 80955502 | A | AAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 NA18522.hp1 |
a0001 | a0001c0019a0001c0028 | a0001c0019t0021a0001c0028t0017 | a0001c0019t0021g0094a0001c0028t0017g0134 | 2 | 254 | 0.0079 | 15 | c.*65 others(26): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 3732 | chr15 | TogoVar | ||||||
CEMP1_chr16_2525035_2536408 | 2533430 | A | ATTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG01071.hp2 others(18): Show |
a0001a0004a0006 | a0001c0001a0004c0005a0006c0006 | a0001c0001t0001a0004c0005t0001a0006c0006t0001 | a0001c0001t0001g0000a0004c0005t0001g0000a0006c0006t0001g0000 | 21 | 348 | 0.0603 | 15 | c.-23 others(26): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2023 | chr16 | TogoVar | ||||||
CENPA_chr2_26781056_26799589 | 26784448 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0007others(1): Show | 9 | 382 | 0.0236 | 15 | c.-17 others(26): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1607 | chr2 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103116277 | C | CACACACA others(8): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0042 | 1 | 320 | 0.0031 | 15 | c.744 others(32): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 45/48 | chr4 | TogoVar | ||||||
CENPE_chr4_103100811_103203343 | 103132960 | T | TTATATAT others(8): Show |
intron_variant | MODIFIER | HG02717.hp2 NA18522.hp1 |
a0004a0011 | a0004c0012a0011c0016 | a0004c0012t0001a0011c0016t0001 | a0004c0012t0001g0092a0011c0016t0001g0093 | 2 | 320 | 0.0063 | 15 | c.672 others(30): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 41/48 | chr4 | TogoVar | ||||||
CENPH_chr5_69184583_69215357 | 69200719 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG02129.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0028a0001c0001t0001g0187others(5): Show | 14 | 388 | 0.0361 | 15 | c.372 others(32): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CENPL_chr1_173794550_173829883 | 173825448 | C | CTATTATT others(8): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0056 | 1 | 358 | 0.0028 | 15 | c.-13 others(26): Show |
CENPL | ENSG00000120334.16 | transcript | ENST00000682279.1 | protein_coding | 566 | chr1 | TogoVar | ||||||
CENPL_chr1_173794550_173829883 | 173825449 | C | CATTATTA others(8): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00621.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0001g0015others(15): Show | 30 | 358 | 0.0838 | 15 | c.-13 others(26): Show |
CENPL | ENSG00000120334.16 | transcript | ENST00000682279.1 | protein_coding | 567 | chr1 | TogoVar | ||||||
CENPO_chr2_24788425_24827376 | 24817466 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0043 | a0002c0002t0043g0084 | 1 | 382 | 0.0026 | 15 | c.767 others(30): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92361440 | C | CTTATTTT others(8): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255a0001c0001t0001g0256 | 2 | 260 | 0.0077 | 15 | c.467 others(34): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92532015 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0017 | 1 | 260 | 0.0039 | 15 | c.565 others(34): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92533328 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 260 | 0.0039 | 15 | c.565 others(34): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92533328 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 260 | 0.0039 | 15 | c.565 others(34): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92582030 | G | GTGTTTTG others(8): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02976.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0001c0001t0020a0002c0002t0012 | a0001c0001t0015g0040a0001c0001t0020g0232a0002c0002t0012g0204 | 3 | 260 | 0.0115 | 15 | c.565 others(34): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPQ_chr6_49458370_49498107 | 49487454 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00558.hp1 others(51): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0001c0001t0004a0003c0003t0002others(2): Show | a0001c0001t0001g0069a0001c0001t0001g0114a0001c0001t0001g0116others(31): Show | 54 | 362 | 0.1492 | 15 | c.478 others(30): Show |
CENPQ | ENSG00000031691.7 | transcript | ENST00000335783.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CENPT_chr16_67823157_67852693 | 67842923 | G | GCAGCAGC others(8): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18995.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0045 | 2 | 266 | 0.0075 | 15 | c.-49 others(34): Show |
CENPT | ENSG00000102901.13 | transcript | ENST00000562787.6 | protein_coding | 1/15 | chr16 | TogoVar | ||||||
CENPX_chr17_82013703_82027878 | 82026564 | T | TGTGTGTG others(8): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | 15 | c.-37 others(26): Show |
CENPX | ENSG00000169689.15 | transcript | ENST00000392359.8 | protein_coding | 3687 | chr17 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3844697 | T | TTAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0131 | 1 | 382 | 0.0026 | 15 | c.566 others(30): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 6/21 | chr1 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3844698 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00735.hp2 others(32): Show |
a0001a0010a0017 | a0001c0001a0001c0006a0010c0020others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(6): Show | a0001c0001t0003g0280a0001c0001t0003g0309a0001c0001t0003g0310others(27): Show | 35 | 382 | 0.0916 | 15 | c.566 others(30): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 6/21 | chr1 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3844707 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01884.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0002c0002t0001others(2): Show | a0001c0001t0003g0257a0001c0001t0005g0294a0002c0002t0001g0037others(9): Show | 12 | 382 | 0.0314 | 15 | c.566 others(30): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 6/21 | chr1 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65926713 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03579.hp2 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0007 | a0001c0003t0001g0006a0001c0003t0007g0004 | 2 | 112 | 0.0179 | 15 | c.198 others(32): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65950699 | C | CTATTATT others(8): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034a0001c0002t0001g0035 | 2 | 112 | 0.0179 | 15 | c.187 others(36): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65950699 | C | CTATTATT others(8): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 112 | 0.0089 | 15 | c.187 others(36): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 18/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66195025 | A | AAAAATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 112 | 0.0089 | 15 | c.-30 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2893 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 66195025 | A | AAATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 HG02683.hp2 HG03225.hp1 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0035a0001c0002t0001g0086a0002c0001t0001g0036 | 3 | 112 | 0.0268 | 15 | c.-30 others(26): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 2893 | chr17 | TogoVar | ||||||
CEP126_chr11_101910010_102006062 | 101938159 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02698.hp1 NA18943.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0033 | a0001c0001t0002g0079a0001c0001t0033g0275a0001c0001t0033g0286 | 3 | 336 | 0.0089 | 15 | c.249 others(32): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP128_chr14_80491479_80946738 | 80596819 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 164 | 0.0061 | 15 | c.280 others(36): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80617219 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 164 | 0.0061 | 15 | c.280 others(36): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80729058 | G | GTGTGTGT others(8): Show |
intron_variant | MODIFIER | NA18979.hp2 NA20129.hp1 |
a0001a0009 | a0001c0001a0009c0016 | a0001c0001t0006a0009c0016t0006 | a0001c0001t0006g0114a0009c0016t0006g0105 | 2 | 164 | 0.0122 | 15 | c.280 others(36): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80810323 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02523.hp2 NA19012.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0005a0005c0005t0011 | a0001c0001t0001g0045a0001c0001t0005g0036a0005c0005t0011g0044 | 3 | 164 | 0.0183 | 15 | c.121 others(36): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 13/24 | chr14 | TogoVar | ||||||
CEP131_chr17_81184596_81227965 | 81210122 | G | GAAGTGGC others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02109.hp1 others(23): Show |
a0001a0003a0010others(7): Show | a0001c0054a0003c0008a0003c0020others(8): Show | a0001c0054t0001a0003c0008t0003a0003c0020t0003others(8): Show | a0001c0054t0001g0265a0003c0008t0003g0308a0003c0008t0003g0309others(22): Show | 26 | 384 | 0.0677 | 15 | c.178 others(32): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 2/25 | chr17 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84159548 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0200 | 1 | 214 | 0.0047 | 15 | c.278 others(34): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 21/26 | chr6 | TogoVar | ||||||
CEP170B_chr14_104860268_104901747 | 104860397 | A | ATCACCAC others(8): Show |
upstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0054 | 1 | 328 | 0.0031 | 15 | c.-51 others(26): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 4870 | chr14 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 13106509 | T | TACCACCA others(8): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02723.hp2 others(3): Show |
a0011a0020 | a0011c0011a0020c0046 | a0011c0011t0001a0020c0046t0001 | a0011c0011t0001g0283a0011c0011t0001g0284a0011c0011t0001g0288others(3): Show | 6 | 392 | 0.0153 | 15 | c.704 others(34): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 40/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP20_chr16_15860719_15893603 | 15890556 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018a0001c0001t0005g0066 | 2 | 433 | 0.0046 | 15 | c.-19 others(26): Show |
CEP20 | ENSG00000133393.13 | transcript | ENST00000255759.11 | protein_coding | 1954 | chr16 | TogoVar | ||||||
CEP250_chr20_35450598_35524280 | 35451048 | A | AAATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01516.hp2 HG01517.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0019others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0151a0001c0001t0001g0154others(12): Show | 15 | 260 | 0.0577 | 15 | c.-50 others(26): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 4549 | chr20 | TogoVar | ||||||
CEP250_chr20_35450598_35524280 | 35451050 | A | ATATATAT others(8): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0235 | 1 | 260 | 0.0039 | 15 | c.-49 others(26): Show |
CEP250 | ENSG00000126001.17 | transcript | ENST00000397527.6 | protein_coding | 4547 | chr20 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130410024 | G | GTCTTCTT others(8): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0204 | 1 | 346 | 0.0029 | 15 | c.277 others(32): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 5/10 | chr7 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130410026 | C | CTTCTTTT others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(177): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0002g0004a0001c0001t0002g0009a0001c0001t0002g0010others(162): Show | 180 | 346 | 0.5202 | 15 | c.277 others(32): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 5/10 | chr7 | TogoVar | ||||||
CEP55_chr10_93491612_93534092 | 93509468 | C | CATTATTA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG02683.hp1 others(3): Show |
a0001a0009 | a0001c0001a0009c0010 | a0001c0001t0001a0009c0010t0002 | a0001c0001t0001g0205a0009c0010t0002g0042a0009c0010t0002g0199others(2): Show | 6 | 386 | 0.0155 | 15 | c.528 others(32): Show |
CEP55 | ENSG00000138180.16 | transcript | ENST00000371485.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109136700 | T | TTTTTATT others(8): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02818.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0053 | a0001c0001t0001g0149a0001c0001t0011g0139a0001c0001t0053g0141 | 3 | 228 | 0.0132 | 15 | c.-3- others(30): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109142632 | A | AAAGAAGA others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03225.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0027a0001c0001t0028 | a0001c0001t0012g0218a0001c0001t0012g0219a0001c0001t0012g0220others(2): Show | 5 | 228 | 0.0219 | 15 | c.-3- others(30): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134490647 | T | TCCCATAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(203): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(24): Show | a0001c0001t0001g0008a0001c0001t0001g0129a0001c0001t0001g0130others(198): Show | 206 | 322 | 0.6398 | 15 | c.-26 others(32): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP63_chr3_134481057_134570031 | 134547614 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 NA19043.hp2 |
a0001a0007 | a0001c0003a0007c0009 | a0001c0003t0003a0007c0009t0001 | a0001c0003t0003g0170a0001c0003t0003g0171a0007c0009t0001g0135 | 3 | 322 | 0.0093 | 15 | c.106 others(32): Show |
CEP63 | ENSG00000182923.20 | transcript | ENST00000675561.1 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65089702 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 NA19000.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0021a0002c0002t0002g0072 | 2 | 360 | 0.0056 | 15 | c.*60 others(26): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 2699 | chr2 | TogoVar |