| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CHN2_chr7_29189775_29519328 | 29468594 | TTACTGCA others(4): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02572.hp2 HG02615.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0001c0002t0002a0002c0003t0002others(2): Show | a0001c0002t0001g0085a0001c0002t0002g0150a0001c0002t0002g0171others(4): Show | 7 | 232 | 0.0302 | -11 | c.577 others(30): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHN2_chr7_29189775_29519328 | 29482797 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01433.hp1 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0010 | a0001c0001t0008g0011a0001c0001t0008g0229a0001c0002t0010g0062 | 3 | 232 | 0.0129 | -11 | c.654 others(28): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHN2_chr7_29189775_29519328 | 29494950 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0017 | 1 | 232 | 0.0043 | -11 | c.655 others(26): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHN2_chr7_29189775_29519328 | 29498715 | AATTTTTC others(4): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0137 | 1 | 232 | 0.0043 | -11 | c.740 others(28): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 8/12 | chr7 | TogoVar | ||||||
| CHN2_chr7_29189775_29519328 | 29498717 | TTTTTCCC others(4): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG01981.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0225a0001c0002t0002g0041 | 2 | 232 | 0.0086 | -11 | c.740 others(28): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 8/12 | chr7 | TogoVar | ||||||
| CHP1_chr15_41226268_41286887 | 41249462 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG02074.hp2 HG03831.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0002g0024others(1): Show | 4 | 298 | 0.0134 | -11 | c.140 others(28): Show |
CHP1 | ENSG00000187446.12 | transcript | ENST00000334660.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CHP1_chr15_41226268_41286887 | 41265363 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 298 | 0.0034 | -11 | c.349 others(28): Show |
CHP1 | ENSG00000187446.12 | transcript | ENST00000334660.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CHP2_chr16_23750026_23763935 | 23750926 | TTTCTTTC others(4): Show |
T | upstream_gene_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | -11 | c.-41 others(22): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 4099 | chr16 | TogoVar | ||||||
| CHP2_chr16_23750026_23763935 | 23750929 | CTTTCTTT others(4): Show |
C | upstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 392 | 0.0026 | -11 | c.-41 others(22): Show |
CHP2 | ENSG00000166869.3 | transcript | ENST00000300113.3 | protein_coding | 4096 | chr16 | TogoVar | ||||||
| CHRAC1_chr8_140506322_140522154 | 140510393 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01074.hp1 others(23): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0031others(6): Show | 26 | 424 | 0.0613 | -11 | c.-11 others(22): Show |
CHRAC1 | ENSG00000104472.10 | transcript | ENST00000220913.10 | protein_coding | 928 | chr8 | TogoVar | ||||||
| CHRDL1_chrX_110668856_110800817 | 110754506 | CAACTATT others(4): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03486.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006a0001c0002t0007 | a0001c0002t0003g0022a0001c0002t0006g0021a0001c0002t0007g0023 | 3 | 172 | 0.0174 | -11 | c.301 others(28): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 4/11 | chrX | TogoVar | ||||||
| CHRD_chr3_184375054_184394829 | 184384371 | AGGAAGCA others(4): Show |
A | intron_variant | MODIFIER | NA19062.hp1 | a0002 | a0002c0022 | a0002c0022t0001 | a0002c0022t0001g0118 | 1 | 428 | 0.0023 | -11 | c.144 others(28): Show |
CHRD | ENSG00000090539.16 | transcript | ENST00000204604.6 | protein_coding | 12/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CHRFAM7A_chr15_30355566_30398540 | 30365801 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01069.hp2 others(14): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0008others(7): Show | a0001c0001t0001a0002c0002t0007a0002c0008t0010others(9): Show | a0001c0001t0001g0071a0002c0002t0007g0023a0002c0002t0007g0024others(13): Show | 17 | 133 | 0.1278 | -11 | c.720 others(28): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 9/9 | chr15 | TogoVar | ||||||
| CHRM2_chr7_136863652_137025213 | 136938915 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01361.hp1 HG03490.hp1 HG03490.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0181a0001c0001t0004g0251a0001c0001t0006g0213others(5): Show | 8 | 320 | 0.0250 | -11 | c.-12 others(32): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHRM2_chr7_136863652_137025213 | 136940984 | GGGCCTGA others(4): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0114 | 1 | 320 | 0.0031 | -11 | c.-12 others(32): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHRM2_chr7_136863652_137025213 | 137023723 | AGATAGAT others(4): Show |
A | downstream_gene_variant | MODIFIER | HG03130.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0298a0001c0001t0009g0313 | 2 | 320 | 0.0063 | -11 | c.*74 others(22): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 3511 | chr7 | TogoVar | ||||||
| CHRM3_chr1_239381568_239920450 | 239410764 | CTTTCTCT others(4): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0073 | 1 | 116 | 0.0086 | -11 | c.-52 others(32): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
| CHRM3_chr1_239381568_239920450 | 239422799 | AAAAACAA others(4): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02615.hp2 HG02922.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0004a0001c0001t0013a0001c0001t0020others(2): Show | a0001c0001t0004g0035a0001c0001t0013g0078a0001c0001t0020g0036others(2): Show | 5 | 116 | 0.0431 | -11 | c.-52 others(32): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239794864 | GTCTTTTA others(4): Show |
G | intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 116 | 0.0086 | -11 | c.-14 others(32): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
| CHRM5_chr15_33963497_34072458 | 33968099 | TAAAAAAA others(4): Show |
T | upstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0237 | 1 | 338 | 0.0030 | -11 | c.-14 others(22): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 397 | chr15 | TogoVar | ||||||
| CHRM5_chr15_33963497_34072458 | 34024472 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(75): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0069others(73): Show | 78 | 338 | 0.2308 | -11 | c.-40 others(32): Show |
CHRM5 | ENSG00000184984.10 | transcript | ENST00000383263.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CHRNA1_chr2_174742592_174769472 | 174749304 | ACTCTTAC others(4): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG03098.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0060others(2): Show | 7 | 370 | 0.0189 | -11 | c.100 others(28): Show |
CHRNA1 | ENSG00000138435.16 | transcript | ENST00000348749.9 | protein_coding | 7/8 | chr2 | TogoVar | ||||||
| CHRNA4_chr20_63338223_63366349 | 63359431 | CGGACACT others(4): Show |
C | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0016 | 1 | 168 | 0.0060 | -11 | c.228 others(26): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
| CHRNA7_chr15_32025515_32178018 | 32028343 | TGTTTTTT others(4): Show |
T | upstream_gene_variant | MODIFIER | NA18977.hp1 NA18999.hp2 |
a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0225a0001c0002t0028g0264 | 2 | 307 | 0.0065 | -11 | c.-22 others(22): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2171 | chr15 | TogoVar | ||||||
| CHRNA7_chr15_32025515_32178018 | 32028344 | GTTTTTTT others(4): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp1 NA18747.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0275a0001c0002t0006g0269 | 2 | 307 | 0.0065 | -11 | c.-22 others(22): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2170 | chr15 | TogoVar | ||||||
| CHRNA7_chr15_32025515_32178018 | 32070669 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0013 | a0002c0013t0002 | a0002c0013t0002g0045 | 1 | 307 | 0.0033 | -11 | c.196 others(30): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CHRNA7_chr15_32025515_32178018 | 32090131 | TAGTGGTA others(4): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG02622.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0015a0001c0001t0029a0001c0002t0002others(5): Show | a0001c0001t0015g0216a0001c0001t0029g0206a0001c0002t0002g0217others(7): Show | 11 | 307 | 0.0358 | -11 | c.196 others(30): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CHRNA7_chr15_32025515_32178018 | 32164913 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG02074.hp1 HG02523.hp2 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0127a0001c0009t0001g0234a0001c0009t0001g0235 | 3 | 307 | 0.0098 | -11 | c.990 others(28): Show |
CHRNA7 | ENSG00000175344.19 | transcript | ENST00000306901.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CHRNA9_chr4_40330333_40360217 | 40332372 | CAAAAAAA others(4): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG03831.hp1 NA19074.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0135a0001c0001t0001g0143a0001c0002t0001g0172 | 3 | 420 | 0.0071 | -11 | c.-30 others(22): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 2960 | chr4 | TogoVar | ||||||
| CHRNA9_chr4_40330333_40360217 | 40332721 | AGCTTTGA others(4): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG03453.hp1 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0056a0004c0008t0001g0191 | 3 | 420 | 0.0071 | -11 | c.-27 others(22): Show |
CHRNA9 | ENSG00000174343.6 | transcript | ENST00000310169.3 | protein_coding | 2611 | chr4 | TogoVar | ||||||
| CHRNB1_chr17_7440061_7462710 | 7441546 | GCATCCAG others(4): Show |
G | upstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 368 | 0.0027 | -11 | c.-35 others(22): Show |
CHRNB1 | ENSG00000170175.11 | transcript | ENST00000306071.7 | protein_coding | 3514 | chr17 | TogoVar | ||||||
| CHRNB1_chr17_7440061_7462710 | 7448074 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 368 | 0.0027 | -11 | c.610 others(26): Show |
CHRNB1 | ENSG00000170175.11 | transcript | ENST00000306071.7 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CHRNB1_chr17_7440061_7462710 | 7456049 | CTTTTTTT others(4): Show |
C | intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0221 | 1 | 368 | 0.0027 | -11 | c.136 others(28): Show |
CHRNB1 | ENSG00000170175.11 | transcript | ENST00000306071.7 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| CHRNB3_chr8_42692366_42742407 | 42739428 | CGCCATTC others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02615.hp2 HG02717.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0007a0001c0005t0003 | a0001c0001t0003g0001a0001c0001t0003g0008a0001c0001t0003g0009others(9): Show | 13 | 282 | 0.0461 | -11 | c.*28 others(22): Show |
CHRNB3 | ENSG00000147432.7 | transcript | ENST00000289957.3 | protein_coding | 2022 | chr8 | TogoVar | ||||||
| CHRND_chr2_232521160_232541664 | 232531946 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0116 | 1 | 438 | 0.0023 | -11 | c.104 others(28): Show |
CHRND | ENSG00000135902.10 | transcript | ENST00000258385.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CHST11_chr12_104451948_104767014 | 104561174 | CCAGATAG others(4): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(89): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0033others(89): Show | 92 | 240 | 0.3833 | -11 | c.119 others(30): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 1/2 | chr12 | TogoVar | ||||||
| CHST11_chr12_104451948_104767014 | 104637302 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0107a0001c0001t0001g0111a0001c0001t0001g0112others(22): Show | 25 | 240 | 0.1042 | -11 | c.204 others(30): Show |
CHST11 | ENSG00000171310.11 | transcript | ENST00000303694.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CHST12_chr7_2398611_2453484 | 2434579 | TAAAAAAA others(4): Show |
T | 3_prime_UTR_variant | MODIFIER | HG04228.hp1 NA19030.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0032a0001c0001t0136a0001c0001t0300 | a0001c0001t0032g0124a0001c0001t0136g0139a0001c0001t0300g0259 | 3 | 344 | 0.0087 | -11 | c.*72 others(20): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 2/2 | 722 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
| CHST2_chr3_143114771_143129014 | 143126029 | CTTTTTTT others(4): Show |
C | downstream_gene_variant | MODIFIER | HG01106.hp2 HG02809.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 464 | 0.0086 | -11 | c.*36 others(22): Show |
CHST2 | ENSG00000175040.6 | transcript | ENST00000309575.5 | protein_coding | 2016 | chr3 | TogoVar | ||||||
| CHST3_chr10_71959395_72018558 | 71990043 | TAATTATA others(4): Show |
T | intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0072 | 1 | 372 | 0.0027 | -11 | c.-10 others(32): Show |
CHST3 | ENSG00000122863.6 | transcript | ENST00000373115.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CHST4_chr16_71521426_71543748 | 71529543 | ATTTTTTT others(4): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0059 | 4 | 418 | 0.0096 | -11 | c.-19 others(28): Show |
CHST4 | ENSG00000140835.10 | transcript | ENST00000539698.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CHST6_chr16_75467052_75500441 | 75491165 | TAAAAAAA others(4): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG03540.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0037 | a0001c0001t0031g0317a0001c0001t0037g0314a0001c0001t0037g0315 | 3 | 371 | 0.0081 | -11 | c.-92 others(28): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
| CHST8_chr19_33616953_33778506 | 33757383 | AAAAGAAG others(4): Show |
A | intron_variant | MODIFIER | HG01993.hp1 NA18973.hp2 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0127a0001c0001t0001g0136 | 3 | 254 | 0.0118 | -11 | c.131 others(30): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CHST8_chr19_33616953_33778506 | 33757541 | AAAGAAAG others(4): Show |
A | intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 254 | 0.0039 | -11 | c.131 others(30): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CHST8_chr19_33616953_33778506 | 33757931 | AGCCCTTG others(4): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG03130.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0033a0001c0001t0001g0040others(1): Show | 4 | 254 | 0.0158 | -11 | c.131 others(30): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CHST8_chr19_33616953_33778506 | 33758880 | CTGGACAG others(4): Show |
C | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 254 | 0.0039 | -11 | c.131 others(30): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CHST9_chr18_26901481_27190308 | 27014453 | CAAAAAAA others(4): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01123.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0037a0001c0001t0001g0189a0001c0001t0002g0131others(10): Show | 13 | 262 | 0.0496 | -11 | c.202 others(28): Show |
CHST9 | ENSG00000154080.14 | transcript | ENST00000618847.5 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| CHSY1_chr15_101170727_101257048 | 101175543 | GCGGCCCA others(4): Show |
G | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02622.hp1 HG02647.hp2 others(1): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0017a0001c0001t0030a0001c0013t0021 | a0001c0001t0017g0371a0001c0001t0030g0365a0001c0001t0030g0366others(1): Show | 4 | 422 | 0.0095 | -11 | c.*18 others(22): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 183 | chr15 | TogoVar | ||||||
| CHSY1_chr15_101170727_101257048 | 101186799 | CAAACAAA others(4): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG01993.hp2 HG02056.hp2 others(5): Show |
a0001a0004 | a0001c0004a0001c0005a0004c0007 | a0001c0004t0003a0001c0005t0011a0001c0005t0022others(1): Show | a0001c0004t0003g0276a0001c0005t0011g0326a0001c0005t0011g0327others(4): Show | 8 | 422 | 0.0190 | -11 | c.817 others(28): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar | ||||||
| CHSY1_chr15_101170727_101257048 | 101193431 | GCTCTTTC others(4): Show |
G | intron_variant | MODIFIER | NA19081.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0111 | 1 | 422 | 0.0024 | -11 | c.817 others(30): Show |
CHSY1 | ENSG00000131873.7 | transcript | ENST00000254190.4 | protein_coding | 2/2 | chr15 | TogoVar |