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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHRNA3_chr15_78590309_78625996 | 78595366 | A | AAACAGTC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0020 | a0001c0001t0011g0210a0001c0001t0011g0211a0001c0001t0020g0107 | 3 | 410 | 0.0073 | 8 | c.*12 others(19): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 6/6 | 1237 | chr15 | TogoVar | |||||
CHRNA5_chr15_78560520_78600269 | 78595366 | A | AAACAGTC others(1): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237a0001c0001t0001g0294a0001c0001t0001g0295 | 3 | 382 | 0.0079 | 8 | c.*21 others(19): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 98 | chr15 | TogoVar | ||||||
CHRNA6_chr8_42747620_42773786 | 42755269 | A | ATGTTTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(141): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0014a0001c0001t0001g0113a0001c0001t0002g0003others(62): Show | 144 | 350 | 0.4114 | 8 | c.135 others(25): Show |
CHRNA6 | ENSG00000147434.9 | transcript | ENST00000276410.7 | protein_coding | 5/5 | chr8 | TogoVar | ||||||
CHRNA7_chr15_32025515_32178018 | 32038056 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00621.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(12): Show | a0001c0001t0001g0092a0001c0001t0001g0095a0001c0001t0001g0104others(27): Show | 31 | 307 | 0.1010 | 8 | c.195 others(25): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA7_chr15_32025515_32178018 | 32044253 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(29): Show | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0017others(73): Show | 78 | 307 | 0.2541 | 8 | c.195 others(27): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA7_chr15_32025515_32178018 | 32098871 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01074.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0015a0001c0001t0023others(12): Show | a0001c0001t0001g0175a0001c0001t0001g0212a0001c0001t0001g0237others(18): Show | 21 | 307 | 0.0684 | 8 | c.196 others(25): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA9_chr4_40330333_40360217 | 40340960 | A | AAGATAAG others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00558.hp2 others(70): Show |
a0001a0002a0006 | a0001c0002a0002c0003a0002c0009others(1): Show | a0001c0002t0002a0002c0003t0001a0002c0009t0001others(1): Show | a0001c0002t0002g0030a0001c0002t0002g0198a0001c0002t0002g0199others(35): Show | 73 | 420 | 0.1738 | 8 | c.365 others(25): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CHRNA9_chr4_40330333_40360217 | 40340973 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01981.hp2 HG02738.hp2 others(13): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0014a0002c0003t0001g0060a0002c0003t0001g0205others(8): Show | 16 | 420 | 0.0381 | 8 | c.365 others(25): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CHRNA9_chr4_40330333_40360217 | 40350693 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(81): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0017others(37): Show | 84 | 420 | 0.2000 | 8 | c.898 others(25): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CHRNA9_chr4_40330333_40360217 | 40358955 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01891.hp2 others(4): Show |
a0001a0003 | a0001c0004a0003c0006a0003c0011 | a0001c0004t0001a0003c0006t0001a0003c0006t0004others(2): Show | a0001c0004t0001g0181a0003c0006t0001g0055a0003c0006t0001g0178others(3): Show | 7 | 420 | 0.0167 | 8 | c.*44 others(19): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 3739 | chr4 | TogoVar | ||||||
CHRNB1_chr17_7440061_7462710 | 7450040 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01106.hp2 HG01884.hp1 others(17): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0028a0001c0001t0001g0033a0001c0001t0001g0034others(14): Show | 20 | 368 | 0.0544 | 8 | c.820 others(25): Show |
CHRNB1 | ENSG00000170175.11 | transcript | ENST00000306071.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CHRNB2_chr1_154562778_154585013 | 154581771 | A | AAATCAAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00438.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0001a0001c0001t0003g0002a0001c0001t0003g0010others(5): Show | 35 | 424 | 0.0826 | 8 | c.*58 others(19): Show |
CHRNB2 | ENSG00000160716.6 | transcript | ENST00000368476.4 | protein_coding | 1759 | chr1 | TogoVar | ||||||
CHRNB2_chr1_154562778_154585013 | 154582475 | A | AGGGGCAT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(387): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0019others(90): Show | 390 | 424 | 0.9198 | 8 | c.*65 others(19): Show |
CHRNB2 | ENSG00000160716.6 | transcript | ENST00000368476.4 | protein_coding | 2463 | chr1 | TogoVar | ||||||
CHRNB3_chr8_42692366_42742407 | 42708474 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(101): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0006others(98): Show | 104 | 282 | 0.3688 | 8 | c.53- others(21): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHRNB4_chr15_78619111_78646210 | 78626384 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01358.hp2 HG01891.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0010a0001c0001t0001g0075a0001c0001t0001g0158others(3): Show | 11 | 416 | 0.0264 | 8 | c.133 others(27): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
CHRNG_chr2_232534692_232553115 | 232542869 | T | TGCCTGCC others(1): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG02486.hp2 HG02809.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0012a0001c0001t0013 | a0001c0001t0010g0054a0001c0001t0012g0052a0001c0001t0013g0025 | 5 | 434 | 0.0115 | 8 | c.605 others(20): Show |
CHRNG | ENSG00000196811.13 | transcript | ENST00000651502.1 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CHST10_chr2_100386860_100422668 | 100418373 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG02056.hp1 others(9): Show |
a0001 | a0001c0003a0001c0011 | a0001c0003t0007a0001c0011t0006 | a0001c0003t0007g0008a0001c0003t0007g0076a0001c0003t0007g0079others(1): Show | 12 | 364 | 0.0330 | 8 | c.-11 others(19): Show |
CHST10 | ENSG00000115526.11 | transcript | ENST00000264249.8 | protein_coding | 706 | chr2 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104475658 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01517.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0037a0001c0001t0001g0039a0001c0001t0001g0142others(9): Show | 12 | 240 | 0.0500 | 8 | c.118 others(27): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104475658 | T | TTTTATAT others(1): Show |
intron_variant | MODIFIER | HG02040.hp1 HG03710.hp1 NA18964.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0034others(1): Show | a0001c0001t0003g0021a0001c0001t0011g0105a0001c0001t0034g0170others(1): Show | 4 | 240 | 0.0167 | 8 | c.118 others(27): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104519071 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01261.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017a0001c0001t0018others(4): Show | a0001c0001t0002g0204a0001c0001t0002g0217a0001c0001t0017g0065others(5): Show | 8 | 240 | 0.0333 | 8 | c.118 others(27): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104541130 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01243.hp2 HG01257.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0118a0001c0001t0001g0234a0001c0001t0002g0132others(7): Show | 10 | 240 | 0.0417 | 8 | c.119 others(27): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104544138 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01071.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0014others(4): Show | a0001c0001t0002g0134a0001c0001t0002g0141a0001c0001t0002g0204others(7): Show | 10 | 240 | 0.0417 | 8 | c.119 others(27): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104553568 | C | CGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0015others(1): Show | a0001c0001t0002g0149a0001c0001t0002g0221a0001c0001t0014g0192others(2): Show | 5 | 240 | 0.0208 | 8 | c.119 others(27): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104590013 | T | TTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0018a0001c0001t0001g0034a0001c0001t0001g0048others(55): Show | 58 | 240 | 0.2417 | 8 | c.119 others(27): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104614693 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG02257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0019a0001c0001t0001g0060others(6): Show | 9 | 240 | 0.0375 | 8 | c.204 others(27): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104684256 | G | GTGGATGG others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(3): Show | a0001c0001t0001g0033a0001c0001t0001g0066a0001c0001t0001g0164others(5): Show | 8 | 240 | 0.0333 | 8 | c.205 others(27): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104722155 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0023a0001c0001t0001g0039others(51): Show | 54 | 240 | 0.2250 | 8 | c.205 others(27): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104752505 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | NA18522.hp2 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0047a0001c0001t0057 | a0001c0001t0047g0017a0001c0001t0057g0209 | 2 | 240 | 0.0083 | 8 | c.205 others(25): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104756532 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02976.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0018a0001c0001t0022others(1): Show | a0001c0001t0017g0146a0001c0001t0018g0004a0001c0001t0018g0103others(5): Show | 8 | 240 | 0.0333 | 8 | c.205 others(23): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104756553 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02683.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0028a0001c0001t0051others(1): Show | a0001c0001t0012g0175a0001c0001t0012g0177a0001c0001t0012g0188others(4): Show | 7 | 240 | 0.0292 | 8 | c.205 others(23): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104761464 | T | TACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02132.hp2 HG02572.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012a0001c0001t0023others(2): Show | a0001c0001t0009g0031a0001c0001t0009g0043a0001c0001t0009g0085others(10): Show | 13 | 240 | 0.0542 | 8 | c.*36 others(19): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 3/3 | 3699 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
CHST12_chr7_2398611_2453484 | 2401082 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG01070.hp1 others(34): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0001a0002c0002t0003a0002c0002t0013others(23): Show | a0002c0002t0001g0025a0002c0002t0001g0279a0002c0002t0001g0281others(34): Show | 37 | 344 | 0.1076 | 8 | c.-26 others(19): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2528 | chr7 | TogoVar | ||||||
CHST12_chr7_2398611_2453484 | 2411490 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(180): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0012a0002c0002others(7): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0012others(159): Show | a0001c0001t0007g0010a0001c0001t0007g0029a0001c0001t0007g0067others(175): Show | 183 | 344 | 0.5320 | 8 | c.-78 others(25): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2434101 | T | TCCGCCCG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00639.hp2 others(12): Show |
a0004 | a0004c0004 | a0004c0004t0006a0004c0004t0023a0004c0004t0024others(8): Show | a0004c0004t0006g0001a0004c0004t0006g0003a0004c0004t0023g0001others(11): Show | 15 | 344 | 0.0436 | 8 | c.*22 others(17): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 228 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CHST12_chr7_2398611_2453484 | 2434112 | A | ACCCGCCC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01169.hp1 HG04228.hp2 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0029a0001c0001t0188 | a0001c0001t0028g0125a0001c0001t0029g0005a0001c0001t0188g0244 | 3 | 344 | 0.0087 | 8 | c.*23 others(17): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 242 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CHST12_chr7_2398611_2453484 | 2434118 | C | CCGCCCGC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(29): Show |
a0001a0003a0005 | a0001c0001a0001c0006a0003c0003others(1): Show | a0001c0001t0151a0001c0001t0155a0001c0001t0157others(27): Show | a0001c0001t0151g0195a0001c0001t0155g0168a0001c0001t0157g0171others(28): Show | 32 | 344 | 0.0930 | 8 | c.*25 others(17): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 260 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CHST12_chr7_2398611_2453484 | 2434126 | T | TCGCCCGC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00738.hp1 others(64): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020a0001c0001t0021others(56): Show | a0001c0001t0007g0010a0001c0001t0007g0029a0001c0001t0007g0067others(63): Show | 67 | 344 | 0.1948 | 8 | c.*24 others(17): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 250 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CHST12_chr7_2398611_2453484 | 2434579 | T | TAAAAAAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG01261.hp2 HG02129.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0041a0001c0001t0042a0001c0001t0044others(8): Show | a0001c0001t0041g0223a0001c0001t0042g0122a0001c0001t0044g0142others(8): Show | 11 | 344 | 0.0320 | 8 | c.*72 others(17): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 733 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CHST12_chr7_2398611_2453484 | 2453323 | C | CTATTTAT others(1): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02280.hp1 others(8): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0032a0001c0001t0077a0001c0001t0104others(8): Show | a0001c0001t0032g0124a0001c0001t0077g0216a0001c0001t0104g0169others(8): Show | 11 | 344 | 0.0320 | 8 | c.*19 others(21): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 4840 | chr7 | TogoVar | ||||||
CHST13_chr3_126519155_126548291 | 126520847 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG03453.hp1 HG03453.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0018others(2): Show | 10 | 364 | 0.0275 | 8 | c.-34 others(19): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 3307 | chr3 | TogoVar | ||||||
CHST13_chr3_126519155_126548291 | 126523553 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG01074.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0134a0001c0001t0005g0079others(10): Show | 25 | 364 | 0.0687 | 8 | c.-78 others(17): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 601 | chr3 | TogoVar | ||||||
CHST13_chr3_126519155_126548291 | 126536896 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02895.hp2 HG02897.hp1 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0017a0003c0005t0001g0082 | 5 | 364 | 0.0137 | 8 | c.180 others(23): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHST15_chr10_124002668_124098598 | 124008344 | T | TACACACA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01952.hp2 HG02040.hp1 HG02080.hp2 others(9): Show |
a0001 | a0001c0004a0001c0006a0001c0012others(2): Show | a0001c0004t0007a0001c0004t0015a0001c0006t0007others(4): Show | a0001c0004t0007g0051a0001c0004t0007g0126a0001c0004t0007g0150others(9): Show | 12 | 392 | 0.0306 | 8 | c.*17 others(19): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 8/8 | 1804 | chr10 | TogoVar | |||||
CHST3_chr10_71959395_72018558 | 72005283 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01261.hp1 HG01346.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0048a0002c0002t0002a0002c0002t0007others(1): Show | a0001c0001t0048g0034a0002c0002t0002g0291a0002c0002t0007g0063others(1): Show | 4 | 372 | 0.0108 | 8 | c.-10 others(25): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHST4_chr16_71521426_71543748 | 71541212 | T | TTTTGTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00558.hp2 others(115): Show |
a0001a0002a0010 | a0001c0001a0002c0004a0010c0008 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0010others(59): Show | 118 | 418 | 0.2823 | 8 | c.*33 others(19): Show |
CHST4 | ENSG00000140835.10 | transcript | ENST00000539698.4 | protein_coding | 2465 | chr16 | TogoVar | ||||||
CHST5_chr16_75523530_75541108 | 75525914 | A | AAAACAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(66): Show |
a0002a0007a0008 | a0002c0002a0002c0014a0007c0016others(1): Show | a0002c0002t0003a0002c0002t0015a0002c0002t0019others(6): Show | a0002c0002t0003g0003a0002c0002t0003g0004a0002c0002t0003g0024others(15): Show | 69 | 394 | 0.1751 | 8 | c.*32 others(19): Show |
CHST5 | ENSG00000135702.15 | transcript | ENST00000336257.8 | protein_coding | 2615 | chr16 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33633774 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02257.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0208a0001c0001t0001g0235a0001c0001t0002g0062 | 3 | 254 | 0.0118 | 8 | c.-16 others(29): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33657156 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01081.hp2 HG01167.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0020a0001c0001t0001g0022a0001c0001t0001g0023others(16): Show | 19 | 254 | 0.0748 | 8 | c.-16 others(29): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33694093 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00738.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0035a0001c0001t0001g0040others(31): Show | 34 | 254 | 0.1339 | 8 | c.130 others(25): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33721589 | T | TATGGATG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00735.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0026a0001c0001t0001g0039others(25): Show | 28 | 254 | 0.1102 | 8 | c.130 others(27): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |