view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DGLUCY_chr14_91109073_91230632 | 91131385 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0187 | 1 | 216 | 0.0046 | 11 | c.-82 others(30): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DGLUCY_chr14_91109073_91230632 | 91207161 | G | GAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03516.hp1 NA18995.hp1 others(1): Show |
a0002a0005a0009 | a0002c0002a0005c0015a0009c0011 | a0002c0002t0001a0005c0015t0001a0009c0011t0002 | a0002c0002t0001g0099 a0005c0015t0001g0189 a0005c0015t0001g0202 others(1): Show |
4 | 216 | 0.0185 | 11 | c.156 others(30): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DHCR24_chr1_54844627_54892195 | 54878514 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01167.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 a0001c0001t0001g0257 |
2 | 386 | 0.0052 | 11 | c.388 others(28): Show |
DHCR24 | ENSG00000116133.13 | transcript | ENST00000371269.9 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
DHDH_chr19_48928699_48949969 | 48930265 | G | GAGGTCGC others(4): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 436 | 0.0023 | 11 | c.-34 others(22): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 3433 | chr19 | TogoVar | |||||||
DHFR_chr5_80621226_80659983 | 80658037 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 NA18951.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0042 |
2 | 376 | 0.0053 | 11 | c.-35 others(22): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 3055 | chr5 | TogoVar | |||||||
DHODH_chr16_72003744_72032659 | 72017770 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00738.hp1 others(97): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0004 | a0001c0001t0010a0001c0001t0038a0002c0002t0001others(21): Show | a0001c0001t0010g0163 a0001c0001t0038g0162 a0002c0002t0001g0005 others(73): Show |
100 | 414 | 0.2416 | 11 | c.517 others(26): Show |
DHODH | ENSG00000102967.12 | transcript | ENST00000219240.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DHRS12_chr13_51762993_51809163 | 51767781 | C | CGGGGGGG others(4): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0221 | 1 | 420 | 0.0024 | 11 | c.*40 others(20): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 211 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51774477 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02818.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(3): Show |
6 | 420 | 0.0143 | 11 | c.364 others(26): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51774632 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02630.hp1 HG02818.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 others(5): Show |
8 | 420 | 0.0191 | 11 | c.364 others(26): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51774693 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 420 | 0.0024 | 11 | c.364 others(26): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51774752 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02818.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0006 | a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 others(3): Show |
6 | 420 | 0.0143 | 11 | c.364 others(26): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51774792 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 420 | 0.0024 | 11 | c.364 others(26): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51774907 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0321 others(1): Show |
4 | 420 | 0.0095 | 11 | c.364 others(26): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51774968 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0134 |
2 | 420 | 0.0048 | 11 | c.364 others(26): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775027 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0133 |
2 | 420 | 0.0048 | 11 | c.364 others(26): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775067 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 420 | 0.0024 | 11 | c.364 others(28): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775145 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0133 |
2 | 420 | 0.0048 | 11 | c.364 others(28): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775182 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0321 |
2 | 420 | 0.0048 | 11 | c.364 others(28): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775243 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02818.hp1 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 others(3): Show |
6 | 420 | 0.0143 | 11 | c.364 others(28): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775302 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0321 | 1 | 420 | 0.0024 | 11 | c.364 others(28): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775342 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 a0001c0001t0001g0321 |
2 | 420 | 0.0048 | 11 | c.364 others(28): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775420 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0321 |
2 | 420 | 0.0048 | 11 | c.364 others(28): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775457 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0321 |
2 | 420 | 0.0048 | 11 | c.364 others(28): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775577 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02965.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 |
3 | 420 | 0.0071 | 11 | c.363 others(28): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775617 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 a0001c0001t0001g0213 |
2 | 420 | 0.0048 | 11 | c.363 others(28): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775695 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02965.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 |
3 | 420 | 0.0071 | 11 | c.363 others(28): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775732 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02717.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0234 others(1): Show |
4 | 420 | 0.0095 | 11 | c.363 others(28): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775793 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03225.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 |
3 | 420 | 0.0071 | 11 | c.363 others(28): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS12_chr13_51762993_51809163 | 51775974 | C | CCTACATG others(4): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02486.hp1 HG02559.hp2 others(32): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0004t0001 | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0038 others(22): Show |
35 | 420 | 0.0833 | 11 | c.363 others(28): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | |||||||
DHRS13_chr17_28892781_28908079 | 28903733 | T | TTCCTTCC others(4): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 | 1 | 412 | 0.0024 | 11 | c.-79 others(20): Show |
DHRS13 | ENSG00000167536.14 | transcript | ENST00000378895.9 | protein_coding | 655 | chr17 | TogoVar | |||||||
DHRS4L2_chr14_23983929_24011403 | 24001957 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01256.hp1 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0003g0009 |
3 | 32 | 0.0938 | 11 | c.665 others(26): Show |
DHRS4L2 | ENSG00000187630.18 | transcript | ENST00000335125.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DHRS4_chr14_23948770_23974279 | 23967173 | A | AGAAAGGA others(4): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0009 | a0009c0016 | a0009c0016t0013 | a0009c0016t0013g0035 | 1 | 267 | 0.0038 | 11 | c.667 others(24): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 6/7 | chr14 | TogoVar | |||||||
DHRS7B_chr17_21121964_21196420 | 21134705 | C | CTCATAAA others(4): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0353 | 1 | 382 | 0.0026 | 11 | c.20+ others(26): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRS7B_chr17_21121964_21196420 | 21138075 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0375 | 1 | 382 | 0.0026 | 11 | c.20+ others(28): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRS7B_chr17_21121964_21196420 | 21140538 | A | ACACACAC others(4): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0338 | 1 | 382 | 0.0026 | 11 | c.20+ others(28): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DHRS7_chr14_60139119_60170398 | 60169133 | C | CAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG02615.hp2 HG03453.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0053 a0001c0002t0002g0117 a0001c0002t0002g0125 |
3 | 388 | 0.0077 | 11 | c.-38 others(22): Show |
DHRS7 | ENSG00000100612.14 | transcript | ENST00000557185.6 | protein_coding | 3736 | chr14 | TogoVar | |||||||
DHRS7_chr14_60139119_60170398 | 60169157 | A | AAAAAAAA others(4): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG02132.hp1 others(10): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0002a0005c0009t0002 | a0001c0001t0002g0003 a0001c0001t0002g0041 a0001c0001t0002g0114 others(3): Show |
13 | 388 | 0.0335 | 11 | c.-38 others(22): Show |
DHRS7 | ENSG00000100612.14 | transcript | ENST00000557185.6 | protein_coding | 3760 | chr14 | TogoVar | |||||||
DHRS9_chr2_169064563_169101167 | 169078815 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03139.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0335 a0001c0001t0007g0334 |
2 | 398 | 0.0050 | 11 | c.-59 others(28): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2227803 | G | GGGAGGGA others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02300.hp1 NA18948.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0002 a0002c0002t0003g0008 a0002c0002t0003g0017 others(1): Show |
4 | 50 | 0.0800 | 11 | c.805 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2228369 | G | GAGGAAGG others(4): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0035 | 1 | 50 | 0.0200 | 11 | c.805 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2235283 | G | GGGAGGTT others(4): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0035 | 1 | 50 | 0.0200 | 11 | c.804 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2317254 | G | GCTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 50 | 0.0200 | 11 | c.287 others(30): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2317256 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01261.hp1 HG01496.hp2 others(11): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0004c0004others(6): Show | a0001c0001t0001a0002c0002t0003a0004c0004t0005others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0026 others(11): Show |
14 | 50 | 0.2800 | 11 | c.287 others(30): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHTKD1_chr10_12063954_12128221 | 12091411 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(98): Show |
a0001a0007a0008others(3): Show | a0001c0001a0001c0006a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0002 a0001c0001t0001g0033 a0001c0001t0001g0067 others(97): Show |
101 | 374 | 0.2701 | 11 | c.988 others(24): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DHTKD1_chr10_12063954_12128221 | 12095812 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01256.hp2 HG03239.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0008a0003c0004t0015 | a0003c0004t0001g0156 a0003c0004t0001g0163 a0003c0004t0008g0167 others(1): Show |
4 | 374 | 0.0107 | 11 | c.135 others(30): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DHTKD1_chr10_12063954_12128221 | 12127557 | G | GCCCCCCC others(4): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG03471.hp1 |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0002a0005c0007t0006 | a0002c0002t0002g0029 a0005c0007t0006g0244 |
2 | 374 | 0.0054 | 11 | c.*66 others(22): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 4337 | chr10 | TogoVar | |||||||
DHX15_chr4_24522475_24589554 | 24550094 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 HG01081.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0052 others(17): Show |
22 | 374 | 0.0588 | 11 | c.108 others(30): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 5/13 | chr4 | TogoVar | |||||||
DHX15_chr4_24522475_24589554 | 24550094 | C | CGAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 374 | 0.0027 | 11 | c.108 others(30): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 5/13 | chr4 | TogoVar | |||||||
DHX15_chr4_24522475_24589554 | 24574205 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02615.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0108 a0001c0001t0001g0155 others(1): Show |
4 | 374 | 0.0107 | 11 | c.507 others(28): Show |
DHX15 | ENSG00000109606.13 | transcript | ENST00000336812.5 | protein_coding | 2/13 | chr4 | TogoVar | |||||||
DHX30_chr3_47798138_47855193 | 47829314 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 266 | 0.0038 | 11 | c.366 others(26): Show |
DHX30 | ENSG00000132153.15 | transcript | ENST00000445061.6 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |