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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFHR5_chr1_196972556_197014678 | 196979256 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01192.hp1 others(29): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0003a0001c0001t0007a0002c0002t0001others(2): Show | a0001c0001t0003g0029a0001c0001t0003g0030a0001c0001t0003g0031others(23): Show | 32 | 356 | 0.0899 | 8 | c.58+ others(23): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFHR5_chr1_196972556_197014678 | 196999722 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0087 | 3 | 356 | 0.0084 | 8 | c.114 others(27): Show |
CFHR5 | ENSG00000134389.11 | transcript | ENST00000256785.5 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196671587 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG01106.hp1 others(9): Show |
a0001 | a0001c0001a0001c0010a0001c0019 | a0001c0001t0001a0001c0010t0001a0001c0019t0001 | a0001c0001t0001g0068a0001c0001t0001g0198a0001c0001t0001g0199others(9): Show | 12 | 308 | 0.0390 | 8 | c.59- others(23): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196692761 | T | TCTCTTTC others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02647.hp1 others(2): Show |
a0001a0004a0012 | a0001c0001a0004c0004a0012c0011 | a0001c0001t0001a0004c0004t0001a0012c0011t0001 | a0001c0001t0001g0268a0001c0001t0001g0269a0001c0001t0001g0302others(2): Show | 5 | 308 | 0.0162 | 8 | c.133 others(27): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196692876 | C | CACCTACC others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01109.hp2 others(35): Show |
a0001a0004a0008others(2): Show | a0001c0001a0001c0008a0004c0004others(3): Show | a0001c0001t0001a0001c0008t0001a0004c0004t0001others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0037others(35): Show | 38 | 308 | 0.1234 | 8 | c.133 others(27): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196693955 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01361.hp1 HG01884.hp2 others(27): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0008a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0008t0001others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0052others(27): Show | 30 | 308 | 0.0974 | 8 | c.133 others(27): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714635 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01167.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0097a0003c0003t0001g0099a0003c0003t0001g0100others(1): Show | 4 | 308 | 0.0130 | 8 | c.151 others(25): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714668 | T | TATATAGA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01433.hp1 HG02257.hp2 others(2): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0223a0001c0001t0001g0305a0003c0003t0001g0157others(2): Show | 5 | 308 | 0.0162 | 8 | c.151 others(25): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714701 | A | AGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01175.hp1 HG01255.hp2 others(17): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0019a0004c0004others(2): Show | a0001c0001t0001a0001c0019t0001a0004c0004t0001others(2): Show | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0133others(17): Show | 20 | 308 | 0.0649 | 8 | c.151 others(25): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196748079 | G | GTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02896.hp2 others(2): Show |
a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0001a0007c0007t0002g0022a0007c0007t0002g0024others(1): Show | 5 | 308 | 0.0162 | 8 | c.*76 others(17): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 576 | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109752965 | T | TATGAATA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01256.hp1 HG03017.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160a0001c0001t0001g0163a0001c0001t0001g0165others(14): Show | 17 | 354 | 0.0480 | 8 | c.905 others(23): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753265 | A | ATTTATTA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01261.hp1 others(21): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0017a0001c0001t0001g0160a0001c0001t0001g0218others(21): Show | 24 | 354 | 0.0678 | 8 | c.905 others(23): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753296 | A | ATTTATTA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00609.hp1 others(67): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0009a0001c0001t0001g0015a0001c0001t0001g0016others(67): Show | 70 | 354 | 0.1977 | 8 | c.905 others(23): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753355 | A | ATTTATTA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp2 HG03486.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0018a0001c0001t0001g0187a0001c0001t0001g0194others(6): Show | 9 | 354 | 0.0254 | 8 | c.905 others(23): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109756888 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01106.hp2 others(11): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0220a0001c0001t0001g0289a0001c0001t0001g0292others(11): Show | 14 | 354 | 0.0396 | 8 | c.904 others(23): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109783812 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02258.hp1 NA18991.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0040a0001c0002t0001g0104a0001c0002t0001g0105 | 3 | 354 | 0.0085 | 8 | c.58- others(25): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34718777 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01496.hp2 HG01884.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011a0001c0001t0014others(2): Show | a0001c0001t0005g0005a0001c0001t0005g0017a0001c0001t0011g0011others(3): Show | 11 | 431 | 0.0255 | 8 | c.-42 others(19): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4185 | chr14 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201114013 | G | GATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG00621.hp2 HG01257.hp1 HG01884.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(3): Show | a0001c0001t0001g0185a0001c0001t0001g0186a0001c0001t0005g0162others(4): Show | 7 | 234 | 0.0299 | 8 | c.-26 others(19): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2150 | chr2 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117490312 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | NA19070.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0067a0001c0001t0005g0066 | 2 | 202 | 0.0099 | 8 | c.53+ others(25): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117499429 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(6): Show |
a0001a0010 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0004a0001c0003t0003a0001c0004t0002others(1): Show | a0001c0001t0004g0138a0001c0003t0003g0021a0001c0003t0003g0141others(6): Show | 9 | 202 | 0.0446 | 8 | c.54- others(23): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117518569 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03041.hp1 HG03209.hp1 |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0194a0001c0005t0003g0196a0001c0005t0003g0197 | 3 | 202 | 0.0149 | 8 | c.273 others(25): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117558553 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01243.hp2 others(46): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(9): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0020others(46): Show | 49 | 202 | 0.2426 | 8 | c.139 others(25): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117566248 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0003t0003a0001c0004t0001 | a0001c0001t0002g0004a0001c0003t0003g0145a0001c0004t0001g0006others(2): Show | 5 | 202 | 0.0248 | 8 | c.158 others(27): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117573036 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01496.hp1 HG02818.hp2 others(6): Show |
a0001a0004a0007 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0002a0001c0004t0003a0001c0005t0003others(2): Show | a0001c0001t0002g0046a0001c0001t0002g0151a0001c0001t0002g0195others(6): Show | 9 | 202 | 0.0446 | 8 | c.158 others(29): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117612017 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02080.hp2 HG02165.hp2 others(1): Show |
a0001a0015 | a0001c0001a0015c0012 | a0001c0001t0002a0015c0012t0002 | a0001c0001t0002g0024a0001c0001t0002g0030a0001c0001t0002g0055others(1): Show | 4 | 202 | 0.0198 | 8 | c.336 others(25): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117612023 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | NA18993.hp2 NA19010.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0071a0002c0002t0001g0097 | 2 | 202 | 0.0099 | 8 | c.336 others(25): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117612234 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG01070.hp1 others(35): Show |
a0001a0002a0009others(1): Show | a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0003t0003a0001c0004t0002a0001c0004t0003others(7): Show | a0001c0003t0003g0001a0001c0003t0003g0021a0001c0003t0003g0026others(34): Show | 38 | 202 | 0.1881 | 8 | c.336 others(25): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117638736 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02145.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0002a0001c0003t0003a0001c0006t0003 | a0001c0001t0002g0195a0001c0003t0003g0180a0001c0003t0003g0181others(2): Show | 5 | 202 | 0.0248 | 8 | c.371 others(27): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CGAS_chr6_73418711_73457297 | 73427278 | C | CTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01256.hp2 HG01258.hp1 others(7): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0006a0001c0002t0007a0001c0002t0013others(3): Show | a0001c0002t0006g0124a0001c0002t0007g0050a0001c0002t0007g0051others(7): Show | 10 | 410 | 0.0244 | 8 | c.121 others(27): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73449476 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01255.hp2 others(47): Show |
a0001a0002a0005others(1): Show | a0001c0002a0001c0003a0001c0006others(5): Show | a0001c0002t0006a0001c0002t0008a0001c0003t0001others(15): Show | a0001c0002t0006g0117a0001c0002t0006g0119a0001c0002t0006g0120others(42): Show | 50 | 410 | 0.1220 | 8 | c.657 others(25): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG01070.hp2 HG01099.hp1 others(21): Show |
a0001a0002a0005 | a0001c0002a0001c0003a0002c0005others(1): Show | a0001c0002t0006a0001c0002t0007a0001c0002t0008others(12): Show | a0001c0002t0006g0316a0001c0002t0007g0070a0001c0002t0007g0079others(21): Show | 24 | 410 | 0.0585 | 8 | c.-13 others(19): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | ||||||
CGB3_chr19_49017869_49029333 | 49021572 | A | AGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(133): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0008a0001c0001t0002g0002a0001c0001t0003g0003others(15): Show | 136 | 391 | 0.3478 | 8 | c.*13 others(19): Show |
CGB3 | ENSG00000104827.12 | transcript | ENST00000357383.4 | protein_coding | 1296 | chr19 | TogoVar | ||||||
CGB7_chr19_49049274_49062749 | 49060036 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG01175.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0002g0002a0001c0001t0008g0014a0001c0001t0009g0015others(4): Show | 23 | 422 | 0.0545 | 8 | c.-39 others(19): Show |
CGB7 | ENSG00000196337.14 | transcript | ENST00000684222.1 | protein_coding | 2288 | chr19 | TogoVar | ||||||
CGGBP1_chr3_88046950_88064005 | 88050344 | A | ATTTTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(84): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0007others(16): Show | 87 | 358 | 0.2430 | 8 | c.*51 others(19): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 1605 | chr3 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57383292 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02630.hp1 HG02818.hp1 others(9): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0003others(7): Show | a0001c0001t0002g0032a0001c0001t0002g0033a0001c0001t0002g0100others(9): Show | 12 | 294 | 0.0408 | 8 | c.-16 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57409037 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(41): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0044a0001c0001t0001g0078a0001c0001t0001g0126others(40): Show | 44 | 294 | 0.1497 | 8 | c.-15 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57413206 | T | TCTCTCTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(149): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0011a0002c0002others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(45): Show | a0001c0001t0001g0049a0001c0001t0001g0059a0001c0001t0001g0065others(148): Show | 152 | 294 | 0.5170 | 8 | c.-15 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57413221 | T | TCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02258.hp2 HG02486.hp2 others(8): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0002a0006c0007others(3): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0007others(6): Show | a0001c0001t0001g0190a0001c0001t0004g0120a0002c0002t0007g0259others(8): Show | 11 | 294 | 0.0374 | 8 | c.-15 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57470256 | C | CTCTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01255.hp1 HG02071.hp1 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0019a0001c0005t0001others(11): Show | a0001c0001t0001g0087a0001c0001t0019g0160a0001c0005t0001g0245others(15): Show | 18 | 294 | 0.0612 | 8 | c.240 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57470256 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG00741.hp2 others(26): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0049a0001c0001t0001g0080a0001c0001t0001g0139others(26): Show | 29 | 294 | 0.0986 | 8 | c.240 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57481064 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01074.hp2 others(8): Show |
a0001a0002a0005 | a0001c0001a0001c0015a0002c0002others(2): Show | a0001c0001t0004a0001c0015t0001a0002c0002t0003others(2): Show | a0001c0001t0004g0021a0001c0015t0001g0022a0002c0002t0003g0117others(8): Show | 11 | 294 | 0.0374 | 8 | c.240 others(29): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57513253 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02895.hp2 HG02897.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0010a0001c0001t0021others(3): Show | a0001c0001t0001g0190a0001c0001t0010g0054a0001c0001t0021g0116others(3): Show | 6 | 294 | 0.0204 | 8 | c.240 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57529559 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02572.hp2 HG02630.hp2 others(5): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0005a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0005t0001others(3): Show | a0001c0001t0001g0044a0001c0001t0001g0268a0001c0001t0010g0054others(5): Show | 8 | 294 | 0.0272 | 8 | c.320 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57543223 | C | CCCAGAGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(98): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0005a0001c0011others(21): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(45): Show | a0001c0001t0002g0001a0001c0001t0002g0042a0001c0001t0002g0070others(97): Show | 101 | 294 | 0.3435 | 8 | c.329 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 14/18 | chr15 | TogoVar | ||||||
CGN_chr1_151506387_151543692 | 151527808 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG02258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011 | a0001c0001t0006g0020a0001c0001t0011g0031 | 5 | 382 | 0.0131 | 8 | c.189 others(25): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CGN_chr1_151506387_151543692 | 151527950 | A | ATATATTT others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01167.hp2 HG02273.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(2): Show | a0001c0001t0001g0026a0001c0001t0001g0067a0001c0001t0001g0068others(9): Show | 13 | 382 | 0.0340 | 8 | c.189 others(25): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CGREF1_chr2_27095594_27124128 | 27116871 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02698.hp2 HG03704.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0020a0001c0001t0001g0222a0001c0001t0001g0292others(1): Show | 5 | 352 | 0.0142 | 8 | c.-12 others(25): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CGRRF1_chr14_54504906_54544292 | 54535359 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02165.hp2 HG02886.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0017a0001c0001t0001g0024a0001c0001t0001g0183others(3): Show | 9 | 338 | 0.0266 | 8 | c.571 others(25): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CGRRF1_chr14_54504906_54544292 | 54535393 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02895.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011 | a0001c0001t0009g0215a0001c0001t0009g0216a0001c0001t0011g0217 | 3 | 338 | 0.0089 | 8 | c.571 others(25): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CHADL_chr22_41224513_41245931 | 41234395 | A | ATTATTAT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG03471.hp1 |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0092a0004c0006t0001g0183a0004c0006t0001g0184 | 3 | 414 | 0.0073 | 8 | c.226 others(25): Show |
CHADL | ENSG00000100399.16 | transcript | ENST00000216241.14 | protein_coding | 5/5 | chr22 | TogoVar |