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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHRNA4_chr20_63338223_63366349 | 63359897 | C | CTGTGTG | intron_variant | MODIFIER | HG02698.hp1 HG03195.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0016a0001c0003t0002g0017 | 2 | 168 | 0.0119 | 6 | c.77- others(19): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 1/5 | chr20 | TogoVar | ||||||
CHRNA5_chr15_78560520_78600269 | 78580279 | C | CAAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01361.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0021 | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0076others(16): Show | 22 | 382 | 0.0576 | 6 | c.107 others(21): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA5_chr15_78560520_78600269 | 78585791 | C | CTTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG01346.hp1 HG02055.hp1 others(15): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0005a0005c0006t0018 | a0001c0001t0001g0254a0001c0001t0005g0001a0001c0001t0005g0034others(7): Show | 18 | 382 | 0.0471 | 6 | c.259 others(21): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA5_chr15_78560520_78600269 | 78585794 | T | TTCTTTC | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(45): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0025a0002c0002t0029others(1): Show | a0002c0002t0003g0013a0002c0002t0003g0014a0002c0002t0003g0031others(39): Show | 48 | 382 | 0.1257 | 6 | c.259 others(21): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA7_chr15_32025515_32178018 | 32038056 | G | GTATATA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00544.hp1 others(103): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(40): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0014others(103): Show | 106 | 307 | 0.3453 | 6 | c.195 others(23): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA7_chr15_32025515_32178018 | 32064482 | A | AGTGTGT | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp1 HG02083.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0043a0001c0002t0002a0001c0002t0006others(4): Show | a0001c0001t0043g0183a0001c0002t0002g0063a0001c0002t0006g0158others(4): Show | 7 | 307 | 0.0228 | 6 | 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 | 32074637 | A | ATATTAT | intron_variant | MODIFIER | HG02559.hp2 HG02896.hp1 HG02897.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0013a0001c0001t0016a0001c0004t0009others(1): Show | a0001c0001t0013g0198a0001c0001t0016g0200a0001c0004t0009g0197others(2): Show | 5 | 307 | 0.0163 | 6 | c.196 others(25): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA7_chr15_32025515_32178018 | 32098871 | A | AACACAC | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(72): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(21): Show | a0001c0001t0001g0006a0001c0001t0001g0014a0001c0001t0001g0017others(71): Show | 75 | 307 | 0.2443 | 6 | c.196 others(23): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA7_chr15_32025515_32178018 | 32114061 | C | CACATAT | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp1 HG01069.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(11): Show | a0001c0001t0001g0242a0001c0001t0003g0025a0001c0001t0003g0232others(18): Show | 21 | 307 | 0.0684 | 6 | c.350 others(23): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CHRNA9_chr4_40330333_40360217 | 40338834 | C | CTCTCTG | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02559.hp1 others(2): Show |
a0001a0007 | a0001c0002a0007c0012 | a0001c0002t0002a0007c0012t0005 | a0001c0002t0002g0171a0007c0012t0005g0052a0007c0012t0005g0186others(1): Show | 5 | 420 | 0.0119 | 6 | c.365 others(23): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CHRNA9_chr4_40330333_40360217 | 40340973 | C | CAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp1 HG02258.hp1 others(11): Show |
a0001a0002a0006 | a0001c0002a0002c0003a0006c0010 | a0001c0002t0002a0002c0003t0001a0006c0010t0002 | a0001c0002t0002g0030a0001c0002t0002g0198a0001c0002t0002g0199others(5): Show | 14 | 420 | 0.0333 | 6 | c.365 others(23): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CHRNA9_chr4_40330333_40360217 | 40350693 | T | TACACAC | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG01123.hp1 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(8): Show | a0001c0001t0001g0049a0001c0001t0001g0104a0001c0001t0001g0135others(15): Show | 23 | 420 | 0.0548 | 6 | c.898 others(23): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CHRNB1_chr17_7440061_7462710 | 7446325 | G | GTGTGTC | intron_variant | MODIFIER | HG02040.hp1 HG02698.hp1 NA18944.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0188a0001c0001t0002g0189a0001c0001t0002g0190others(3): Show | 6 | 368 | 0.0163 | 6 | c.243 others(21): Show |
CHRNB1 | ENSG00000170175.11 | transcript | ENST00000306071.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CHRNB1_chr17_7440061_7462710 | 7446329 | G | GTGTGTC | intron_variant | MODIFIER | HG01516.hp2 HG03516.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257a0001c0001t0001g0258a0001c0001t0001g0259others(1): Show | 4 | 368 | 0.0109 | 6 | c.243 others(21): Show |
CHRNB1 | ENSG00000170175.11 | transcript | ENST00000306071.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CHRNB3_chr8_42692366_42742407 | 42708474 | T | TACACAC | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp2 HG01243.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0002g0150a0001c0001t0003g0001a0001c0001t0003g0008others(21): Show | 25 | 282 | 0.0887 | 6 | c.53- others(19): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CHRNB4_chr15_78619111_78646210 | 78626384 | G | GTGTGTT | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01257.hp2 others(9): Show |
a0001a0007 | a0001c0001a0007c0015 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0062a0001c0001t0001g0082others(6): Show | 12 | 416 | 0.0289 | 6 | c.133 others(25): Show |
CHRNB4 | ENSG00000117971.12 | transcript | ENST00000261751.8 | protein_coding | 5/5 | chr15 | TogoVar | ||||||
CHRND_chr2_232521160_232541664 | 232527310 | A | AAAAGAG | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp1 HG00738.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0033a0001c0001t0002g0092a0001c0001t0004g0008others(5): Show | 29 | 438 | 0.0662 | 6 | c.199 others(19): Show |
CHRND | ENSG00000135902.10 | transcript | ENST00000258385.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CHRND_chr2_232521160_232541664 | 232541095 | C | CTATTAT | downstream_gene_variant | MODIFIER | HG01109.hp2 NA19007.hp2 NA19091.hp2 |
a0001a0004 | a0001c0002a0004c0004 | a0001c0002t0002a0004c0004t0001 | a0001c0002t0002g0001a0004c0004t0001g0061 | 3 | 438 | 0.0069 | 6 | c.*57 others(17): Show |
CHRND | ENSG00000135902.10 | transcript | ENST00000258385.8 | protein_coding | 4432 | chr2 | TogoVar | ||||||
CHRNE_chr17_4892771_4908098 | 4907590 | A | AAAAAAT | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01192.hp1 HG02109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0004a0001c0003t0020 | a0001c0001t0007g0069a0001c0001t0007g0072a0001c0003t0004g0005others(4): Show | 11 | 446 | 0.0247 | 6 | c.-45 others(17): Show |
CHRNE | ENSG00000108556.10 | transcript | ENST00000649488.2 | protein_coding | 4493 | chr17 | TogoVar | ||||||
CHRNG_chr2_232534692_232553115 | 232541095 | C | CTATTAT | intron_variant | MODIFIER | HG01109.hp2 NA19007.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028a0001c0001t0002g0062 | 3 | 434 | 0.0069 | 6 | c.351 others(21): Show |
CHRNG | ENSG00000196811.13 | transcript | ENST00000651502.1 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CHST10_chr2_100386860_100422668 | 100414362 | T | TCACACA | intron_variant | MODIFIER | HG03540.hp2 NA19240.hp2 NA20129.hp2 |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0005a0005c0013t0028 | a0001c0001t0005g0064a0001c0001t0005g0065a0005c0013t0028g0078 | 3 | 364 | 0.0082 | 6 | c.-33 others(21): Show |
CHST10 | ENSG00000115526.11 | transcript | ENST00000264249.8 | protein_coding | 2/6 | chr2 | TogoVar | ||||||
CHST10_chr2_100386860_100422668 | 100416688 | A | AAACAAC | intron_variant | MODIFIER | HG01167.hp2 HG01261.hp2 HG02055.hp2 others(19): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0010 | a0001c0001t0005a0001c0001t0018a0001c0001t0019others(2): Show | a0001c0001t0005g0015a0001c0001t0005g0021a0001c0001t0005g0022others(11): Show | 22 | 364 | 0.0604 | 6 | c.-10 others(23): Show |
CHST10 | ENSG00000115526.11 | transcript | ENST00000264249.8 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
CHST11_chr12_104451948_104767014 | 104475658 | T | TTATATA | intron_variant | MODIFIER | HG04115.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0057 | a0001c0001t0003g0041a0001c0001t0057g0209 | 2 | 240 | 0.0083 | 6 | c.118 others(25): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104475658 | T | TTTTATA | intron_variant | MODIFIER | HG00733.hp2 HG01978.hp2 NA18961.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0020others(1): Show | a0001c0001t0002g0022a0001c0001t0004g0106a0001c0001t0020g0158others(2): Show | 5 | 240 | 0.0208 | 6 | c.118 others(25): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104491443 | C | CTCTTCT | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0025others(3): Show | a0001c0001t0001g0211a0001c0001t0014g0176a0001c0001t0014g0192others(5): Show | 8 | 240 | 0.0333 | 6 | c.118 others(25): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104519071 | G | GGTGTGT | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0023others(7): Show | a0001c0001t0002g0096a0001c0001t0003g0050a0001c0001t0023g0190others(7): Show | 10 | 240 | 0.0417 | 6 | c.118 others(25): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104531465 | C | CAAAAAA | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(3): Show | a0001c0001t0001g0122a0001c0001t0001g0213a0001c0001t0002g0149others(5): Show | 8 | 240 | 0.0333 | 6 | c.119 others(25): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104541130 | T | TCACACA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0018a0001c0001t0003g0227a0001c0001t0004g0086others(10): Show | 13 | 240 | 0.0542 | 6 | c.119 others(25): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104610043 | C | CTGTGTG | intron_variant | MODIFIER | HG01433.hp2 HG03225.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0022 | a0001c0001t0002g0231a0001c0001t0013g0191a0001c0001t0022g0186 | 3 | 240 | 0.0125 | 6 | c.204 others(23): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104644659 | T | TCCTGGC | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(3): Show | a0001c0001t0001g0211a0001c0001t0002g0204a0001c0001t0017g0015others(4): Show | 7 | 240 | 0.0292 | 6 | c.204 others(25): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST11_chr12_104451948_104767014 | 104722155 | A | AGTGTGT | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp2 HG01192.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0020a0001c0001t0002g0141a0001c0001t0007g0095others(13): Show | 16 | 240 | 0.0667 | 6 | 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 | 104756530 | G | GGTGTGT | intron_variant | MODIFIER | HG00597.hp2 HG01884.hp1 HG02132.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0016a0001c0001t0027others(2): Show | a0001c0001t0009g0031a0001c0001t0009g0043a0001c0001t0009g0085others(6): Show | 9 | 240 | 0.0375 | 6 | c.205 others(21): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2432141 | C | CAAAAAA | intron_variant | MODIFIER | HG03491.hp1 NA18961.hp1 NA18997.hp1 others(3): Show |
a0001a0010 | a0001c0001a0010c0011 | a0001c0001t0011a0001c0001t0052a0001c0001t0095others(3): Show | a0001c0001t0011g0112a0001c0001t0052g0117a0001c0001t0095g0133others(3): Show | 6 | 344 | 0.0174 | 6 | c.-77 others(21): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CHST12_chr7_2398611_2453484 | 2434579 | T | TAAAAAA | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG02027.hp2 HG02071.hp2 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0033a0001c0001t0034a0001c0001t0050others(13): Show | a0001c0001t0033g0204a0001c0001t0034g0203a0001c0001t0050g0005others(13): Show | 16 | 344 | 0.0465 | 6 | c.*72 others(15): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 733 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CHST13_chr3_126519155_126548291 | 126523553 | A | AACACAC | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01099.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(3): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0023others(15): Show | 26 | 364 | 0.0714 | 6 | c.-78 others(15): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 601 | chr3 | TogoVar | ||||||
CHST13_chr3_126519155_126548291 | 126536896 | A | AACACAC | intron_variant | MODIFIER | HG01346.hp2 HG01891.hp2 HG02145.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0122a0003c0004t0001g0012a0003c0004t0001g0022others(2): Show | 11 | 364 | 0.0302 | 6 | c.180 others(21): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CHST15_chr10_124002668_124098598 | 124008344 | T | TACACAC | 3_prime_UTR_variant | MODIFIER | HG01192.hp1 HG02717.hp2 NA21309.hp1 |
a0001 | a0001c0004a0001c0013 | a0001c0004t0014a0001c0013t0014 | a0001c0004t0014g0251a0001c0004t0014g0292a0001c0013t0014g0107 | 3 | 392 | 0.0077 | 6 | c.*17 others(17): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 8/8 | 1804 | chr10 | TogoVar | |||||
CHST15_chr10_124002668_124098598 | 124045118 | A | AAAAAAC | intron_variant | MODIFIER | HG01099.hp2 HG01258.hp1 HG02056.hp2 others(4): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0187a0001c0001t0001g0188a0001c0001t0002g0192others(4): Show | 7 | 392 | 0.0179 | 6 | c.547 others(21): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 2/7 | chr10 | TogoVar | ||||||
CHST15_chr10_124002668_124098598 | 124053043 | T | TCTCTGG | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0037 | a0001c0001t0001g0225a0001c0001t0001g0226a0001c0001t0037g0374 | 3 | 392 | 0.0077 | 6 | c.-51 others(25): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 1/7 | chr10 | TogoVar | ||||||
CHST15_chr10_124002668_124098598 | 124086655 | T | TTCCTCC | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02922.hp2 others(6): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0002a0001c0001t0008a0001c0001t0010others(4): Show | a0001c0001t0002g0024a0001c0001t0002g0030a0001c0001t0008g0029others(6): Show | 9 | 392 | 0.0230 | 6 | c.-51 others(25): Show |
CHST15 | ENSG00000182022.18 | transcript | ENST00000435907.6 | protein_coding | 1/7 | chr10 | TogoVar | ||||||
CHST3_chr10_71959395_72018558 | 71987714 | C | CAAAAAA | intron_variant | MODIFIER | HG01515.hp1 HG01928.hp1 HG02055.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0055others(1): Show | a0001c0001t0003g0264a0001c0001t0004g0025a0001c0001t0004g0170others(4): Show | 7 | 372 | 0.0188 | 6 | c.-10 others(27): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHST3_chr10_71959395_72018558 | 71996391 | C | CTCTCTT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(224): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0016a0001c0001t0001g0056a0001c0001t0001g0062others(203): Show | 227 | 372 | 0.6102 | 6 | c.-10 others(25): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHST3_chr10_71959395_72018558 | 71996451 | C | CGTGTGT | intron_variant | MODIFIER | NA18971.hp2 NA18987.hp2 NA19005.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0024a0001c0001t0004g0183a0001c0001t0004g0186others(1): Show | 5 | 372 | 0.0134 | 6 | c.-10 others(25): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHST3_chr10_71959395_72018558 | 72004169 | A | AAATAAT | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0023a0001c0001t0028a0001c0004t0047 | a0001c0001t0023g0153a0001c0001t0023g0154a0001c0001t0028g0319others(2): Show | 5 | 372 | 0.0134 | 6 | c.-10 others(25): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHST3_chr10_71959395_72018558 | 72005283 | T | TTGTGTG | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp1 HG00741.hp2 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0007a0002c0002t0024 | a0002c0002t0002g0201a0002c0002t0002g0263a0002c0002t0002g0296others(10): Show | 15 | 372 | 0.0403 | 6 | c.-10 others(23): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CHST4_chr16_71521426_71543748 | 71542925 | G | GTATTAT | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00621.hp1 others(28): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0012others(20): Show | 31 | 418 | 0.0742 | 6 | c.*50 others(17): Show |
CHST4 | ENSG00000140835.10 | transcript | ENST00000539698.4 | protein_coding | 4178 | chr16 | TogoVar | ||||||
CHST7_chrX_46568765_46603496 | 46578269 | C | CTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp2 others(34): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0016others(25): Show | 37 | 311 | 0.1190 | 6 | c.*31 others(23): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHST7_chrX_46568765_46603496 | 46584535 | C | CAAAAAA | intron_variant | MODIFIER | HG01978.hp2 HG01981.hp2 HG02056.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0011a0001c0001t0001g0036a0001c0001t0001g0037others(19): Show | 24 | 311 | 0.0772 | 6 | c.*31 others(23): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33618542 | T | TTTCTTC | upstream_gene_variant | MODIFIER | HG03540.hp2 HG04115.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0178a0001c0001t0001g0248a0001c0001t0007g0177 | 3 | 254 | 0.0118 | 6 | c.-39 others(17): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3410 | chr19 | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33618626 | C | CTCTTCT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01261.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0040a0001c0001t0001g0065a0001c0001t0001g0076others(12): Show | 15 | 254 | 0.0591 | 6 | c.-38 others(17): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3326 | chr19 | TogoVar |