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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DGKK_chrX_50360409_50475825 | 50470064 | GGGCGAT | G | disruptive_inframe_deletion | MODERATE | HG01167.hp1 HG01169.hp1 HG02109.hp2 others(10): Show |
a0003a0004 | a0003c0006a0003c0010a0004c0007 | a0003c0006t0002a0003c0006t0003a0003c0010t0001others(3): Show | a0003c0006t0002g0223a0003c0006t0002g0224a0003c0006t0002g0225others(9): Show | 13 | 248 | 0.0524 | -6 | c.609 others(13): Show |
p.Ser others(13): Show |
DGKK | ENSG00000274588.2 | transcript | ENST00000611977.2 | protein_coding | 1/28 | 761/7494 | 609/3816 | 203/1271 | chrX | TogoVar | ||
DGKQ_chr4_953887_978569 | 975324 | GCTCTCC | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp2 others(19): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0043a0001c0004t0044others(1): Show | a0001c0004t0005g0005a0001c0004t0005g0015a0001c0004t0005g0198others(5): Show | 22 | 438 | 0.0502 | -6 | c.-18 others(17): Show |
DGKQ | ENSG00000145214.14 | transcript | ENST00000273814.8 | protein_coding | 1756 | chr4 | TogoVar | ||||||
DGLUCY_chr14_91109073_91230632 | 91111198 | ATATATG | A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02976.hp1 HG03130.hp1 |
a0002a0010 | a0002c0002a0010c0012 | a0002c0002t0001a0010c0012t0001 | a0002c0002t0001g0106a0010c0012t0001g0188a0010c0012t0001g0191 | 3 | 216 | 0.0139 | -6 | c.-31 others(17): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 2874 | chr14 | TogoVar | ||||||
DGLUCY_chr14_91109073_91230632 | 91111200 | ATATGTG | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG01255.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(3): Show | a0001c0001t0001g0064a0001c0001t0001g0068a0001c0001t0001g0105others(9): Show | 12 | 216 | 0.0556 | -6 | c.-31 others(17): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 2872 | chr14 | TogoVar | ||||||
DGLUCY_chr14_91109073_91230632 | 91111246 | GTGTATA | G | upstream_gene_variant | MODIFIER | NA18984.hp2 NA18995.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0096a0002c0002t0001g0119 | 2 | 216 | 0.0093 | -6 | c.-31 others(17): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 2826 | chr14 | TogoVar | ||||||
DGLUCY_chr14_91109073_91230632 | 91121609 | AAATAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00621.hp2 others(52): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0013a0001c0019others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0011a0001c0001t0001g0049a0001c0001t0001g0058others(52): Show | 55 | 216 | 0.2546 | -6 | c.-82 others(23): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DGLUCY_chr14_91109073_91230632 | 91142840 | AACACAC | A | intron_variant | MODIFIER | HG00733.hp2 HG01175.hp2 HG01192.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0009 | a0001c0001t0001g0049a0001c0001t0001g0061a0001c0001t0001g0070others(6): Show | 9 | 216 | 0.0417 | -6 | c.-81 others(25): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DGLUCY_chr14_91109073_91230632 | 91205754 | CTCTTCT | C | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG02055.hp1 others(9): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0015others(2): Show | a0001c0001t0001a0002c0002t0001a0005c0015t0001others(2): Show | a0001c0001t0001g0216a0002c0002t0001g0015a0002c0002t0001g0016others(9): Show | 12 | 216 | 0.0556 | -6 | c.156 others(23): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DGUOK_chr2_73921880_73963946 | 73925630 | TTTTTTG | T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01169.hp2 others(12): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0009 | a0001c0001t0001a0001c0002t0001a0006c0009t0001 | a0001c0001t0001g0039a0001c0001t0001g0044a0001c0001t0001g0183others(6): Show | 15 | 352 | 0.0426 | -6 | c.-12 others(17): Show |
DGUOK | ENSG00000114956.20 | transcript | ENST00000264093.9 | protein_coding | 1249 | chr2 | TogoVar | ||||||
DGUOK_chr2_73921880_73963946 | 73925635 | TGTTTTG | T | upstream_gene_variant | MODIFIER | HG01993.hp2 NA19059.hp2 NA19075.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0145 | 3 | 352 | 0.0085 | -6 | c.-12 others(17): Show |
DGUOK | ENSG00000114956.20 | transcript | ENST00000264093.9 | protein_coding | 1244 | chr2 | TogoVar | ||||||
DGUOK_chr2_73921880_73963946 | 73953290 | ATCGTCG | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(173): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(121): Show | 176 | 352 | 0.5000 | -6 | c.591 others(23): Show |
DGUOK | ENSG00000114956.20 | transcript | ENST00000264093.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DHCR24_chr1_54844627_54892195 | 54877363 | GACTTCT | G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00642.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0046a0001c0001t0001g0250others(26): Show | 37 | 386 | 0.0959 | -6 | c.388 others(23): Show |
DHCR24 | ENSG00000116133.13 | transcript | ENST00000371269.9 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
DHCR24_chr1_54844627_54892195 | 54879322 | GAAAAAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(131): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(97): Show | 134 | 386 | 0.3472 | -6 | c.388 others(23): Show |
DHCR24 | ENSG00000116133.13 | transcript | ENST00000371269.9 | protein_coding | 2/8 | chr1 | TogoVar | ||||||
DHDDS_chr1_26427321_26476306 | 26446703 | TGTGTGG | T | intron_variant | MODIFIER | HG01099.hp1 HG02723.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0032a0001c0001t0003g0050a0001c0001t0009g0049 | 3 | 314 | 0.0096 | -6 | c.440 others(21): Show |
DHDDS | ENSG00000117682.18 | transcript | ENST00000236342.12 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DHDDS_chr1_26427321_26476306 | 26451404 | ATGTGTG | A | intron_variant | MODIFIER | HG00140.hp2 HG01167.hp2 HG01243.hp1 others(19): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0008a0001c0001t0021others(2): Show | a0001c0001t0005g0002a0001c0001t0005g0155a0001c0001t0005g0156others(14): Show | 22 | 314 | 0.0701 | -6 | c.542 others(23): Show |
DHDDS | ENSG00000117682.18 | transcript | ENST00000236342.12 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DHDH_chr19_48928699_48949969 | 48941985 | CGTGTGT | C | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01071.hp2 others(11): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0012 | a0001c0001t0001a0002c0002t0001a0005c0012t0001 | a0001c0001t0001g0006a0001c0001t0001g0122a0001c0001t0001g0123others(2): Show | 14 | 436 | 0.0321 | -6 | c.620 others(21): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
DHFR2_chr3_94052922_94067916 | 94057985 | ATAAAAT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG01074.hp2 HG02004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0011 | 4 | 394 | 0.0102 | -6 | c.*29 others(17): Show |
DHFR2 | ENSG00000178700.9 | transcript | ENST00000314636.3 | protein_coding | 2/2 | 2957 | chr3 | TogoVar | |||||
DHFR2_chr3_94052922_94067916 | 94065032 | TTAAATA | T | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02280.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(1): Show | a0001c0001t0001g0001a0001c0001t0004g0006a0001c0001t0011g0015others(1): Show | 15 | 394 | 0.0381 | -6 | c.-23 others(17): Show |
DHFR2 | ENSG00000178700.9 | transcript | ENST00000314636.3 | protein_coding | 2117 | chr3 | TogoVar | ||||||
DHFR_chr5_80621226_80659983 | 80637285 | AATATAT | A | intron_variant | MODIFIER | HG01496.hp2 HG02257.hp2 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0018a0001c0001t0026others(1): Show | a0001c0001t0017g0043a0001c0001t0017g0159a0001c0001t0018g0044others(4): Show | 9 | 376 | 0.0239 | -6 | c.369 others(21): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 4/5 | chr5 | TogoVar | ||||||
DHODH_chr16_72003744_72032659 | 72009509 | CAAAAAA | C | intron_variant | MODIFIER | HG01891.hp2 HG02886.hp2 HG02895.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0023a0002c0002t0051a0002c0002t0057others(1): Show | a0002c0002t0023g0055a0002c0002t0023g0056a0002c0002t0023g0058others(3): Show | 6 | 414 | 0.0145 | -6 | c.21+ others(19): Show |
DHODH | ENSG00000102967.12 | transcript | ENST00000219240.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DHODH_chr16_72003744_72032659 | 72026959 | TTGTGTG | T | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01071.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0015a0001c0001t0028a0001c0001t0031others(4): Show | a0001c0001t0015g0027a0001c0001t0015g0053a0001c0001t0015g0243others(11): Show | 15 | 414 | 0.0362 | -6 | c.*28 others(17): Show |
DHODH | ENSG00000102967.12 | transcript | ENST00000219240.9 | protein_coding | 9/9 | 2806 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
DHRS12_chr13_51762993_51809163 | 51775275 | AGTACAT | A | intron_variant | MODIFIER | HG02559.hp2 HG03516.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0257a0001c0001t0001g0321 | 3 | 420 | 0.0071 | -6 | c.364 others(23): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
DHRS12_chr13_51762993_51809163 | 51775550 | AGTACAT | A | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG02148.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0259a0002c0002t0003g0049a0002c0002t0003g0050others(1): Show | 4 | 420 | 0.0095 | -6 | c.363 others(23): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 5/8 | chr13 | TogoVar | ||||||
DHRS12_chr13_51762993_51809163 | 51781354 | ATCCAGT | A | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG02040.hp1 others(20): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0025a0001c0001t0001g0036a0001c0001t0001g0037others(16): Show | 23 | 420 | 0.0548 | -6 | c.302 others(23): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 4/8 | chr13 | TogoVar | ||||||
DHRS12_chr13_51762993_51809163 | 51802169 | TCACACA | T | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00609.hp2 others(44): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0005a0001c0001t0001g0015a0001c0001t0001g0033others(34): Show | 47 | 420 | 0.1119 | -6 | c.-9+ others(21): Show |
DHRS12 | ENSG00000102796.12 | transcript | ENST00000444610.8 | protein_coding | 1/8 | chr13 | TogoVar | ||||||
DHRS1_chr14_24285598_24304780 | 24294589 | AAACAAC | A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02717.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0001 | a0001c0001t0003g0029a0002c0003t0001g0022 | 5 | 414 | 0.0121 | -6 | c.375 others(23): Show |
DHRS1 | ENSG00000157379.14 | transcript | ENST00000288111.12 | protein_coding | 4/8 | chr14 | TogoVar | ||||||
DHRS3_chr1_12562910_12623210 | 12614702 | CTTTTTT | C | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0024a0001c0001t0039a0001c0002t0012others(2): Show | a0001c0001t0024g0013a0001c0001t0039g0226a0001c0002t0012g0009others(2): Show | 6 | 376 | 0.0160 | -6 | c.195 others(23): Show |
DHRS3 | ENSG00000162496.9 | transcript | ENST00000616661.5 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
DHRS4_chr14_23948770_23974279 | 23952513 | AACACAC | A | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01071.hp1 HG01081.hp1 others(61): Show |
a0000a0002a0003others(2): Show | a0000c0008a0002c0002a0002c0005others(7): Show | a0000c0008t0012a0002c0002t0004a0002c0002t0007others(12): Show | a0000c0008t0012g0044a0000c0008t0012g0055a0000c0008t0012g0068others(45): Show | 64 | 267 | 0.2397 | -6 | c.-12 others(17): Show |
DHRS4 | ENSG00000157326.19 | transcript | ENST00000313250.10 | protein_coding | 1256 | chr14 | TogoVar | ||||||
DHRS7B_chr17_21121964_21196420 | 21140022 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00558.hp1 others(126): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0236others(126): Show | 129 | 382 | 0.3377 | -6 | c.20+ others(23): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DHRS7B_chr17_21121964_21196420 | 21140479 | TACACAC | T | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp2 HG02015.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0003t0001a0002c0005t0001 | a0001c0001t0001g0012a0001c0001t0001g0123a0001c0001t0001g0167others(7): Show | 10 | 382 | 0.0262 | -6 | c.20+ others(23): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DHRS7C_chr17_9766438_9796592 | 9786328 | AAATAAT | A | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG01071.hp2 others(45): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0022a0001c0001t0001g0034others(32): Show | 48 | 424 | 0.1132 | -6 | c.155 others(23): Show |
DHRS7C | ENSG00000184544.12 | transcript | ENST00000571134.2 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
DHRS7C_chr17_9766438_9796592 | 9786362 | AATAATT | A | intron_variant | MODIFIER | HG01255.hp2 HG03834.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0305a0001c0005t0001g0067a0001c0005t0001g0165 | 3 | 424 | 0.0071 | -6 | c.154 others(23): Show |
DHRS7C | ENSG00000184544.12 | transcript | ENST00000571134.2 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
DHRS9_chr2_169064563_169101167 | 169079918 | GGGGAGA | G | intron_variant | MODIFIER | HG00323.hp1 HG02451.hp2 HG02572.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0021a0001c0002t0002g0025a0001c0002t0002g0031others(1): Show | 4 | 398 | 0.0101 | -6 | c.-59 others(23): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DHRS9_chr2_169064563_169101167 | 169079920 | GGAGAGA | G | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG01516.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082a0001c0001t0001g0123a0001c0001t0001g0201others(3): Show | 6 | 398 | 0.0151 | -6 | c.-59 others(23): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DHRS9_chr2_169064563_169101167 | 169079981 | GAGAGAA | G | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 NA18984.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0113a0001c0001t0001g0223a0001c0001t0001g0238others(2): Show | 5 | 398 | 0.0126 | -6 | c.-59 others(23): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DHRS9_chr2_169064563_169101167 | 169079985 | GAAAGAA | G | intron_variant | MODIFIER | HG00280.hp2 HG01257.hp2 HG01258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0001 | a0001c0001t0001g0017a0001c0001t0001g0020a0001c0001t0001g0022others(4): Show | 8 | 398 | 0.0201 | -6 | c.-59 others(23): Show |
DHRS9 | ENSG00000073737.17 | transcript | ENST00000674881.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DHRSX_chrX_2214506_2505976 | 2223238 | AATGAAT | A | intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 50 | 0.0200 | -6 | c.805 others(23): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2231655 | TTTCTTC | T | intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02630.hp1 |
a0002a0005 | a0002c0005a0005c0008 | a0002c0005t0004a0002c0005t0008a0005c0008t0006 | a0002c0005t0004g0004a0002c0005t0008g0010a0005c0008t0006g0001 | 3 | 50 | 0.0600 | -6 | c.805 others(25): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2243321 | CACGTCT | C | intron_variant | MODIFIER | HG02886.hp1 | a0006 | a0006c0013 | a0006c0013t0015 | a0006c0013t0015g0011 | 1 | 50 | 0.0200 | -6 | c.597 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 5/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2243788 | GTTTTTT | G | intron_variant | MODIFIER | HG02886.hp1 | a0006 | a0006c0013 | a0006c0013t0015 | a0006c0013t0015g0011 | 1 | 50 | 0.0200 | -6 | c.597 others(21): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 5/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2259295 | TATATAG | T | intron_variant | MODIFIER | HG02886.hp2 HG02922.hp2 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0004 | a0001c0001t0001g0026a0005c0006t0004g0034 | 2 | 50 | 0.0400 | -6 | c.596 others(23): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 5/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2330070 | CGGCGGG | C | intron_variant | MODIFIER | HG02647.hp1 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0003a0002c0002t0004g0035 | 2 | 50 | 0.0400 | -6 | c.287 others(25): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2330097 | GGAGGGA | G | intron_variant | MODIFIER | HG02572.hp1 | a0004 | a0004c0014 | a0004c0014t0005 | a0004c0014t0005g0007 | 1 | 50 | 0.0200 | -6 | c.287 others(25): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2330661 | GAGAAGA | G | intron_variant | MODIFIER | HG02886.hp1 | a0006 | a0006c0013 | a0006c0013t0015 | a0006c0013t0015g0011 | 1 | 50 | 0.0200 | -6 | c.287 others(25): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2330664 | AAGAAGG | A | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp1 |
a0004 | a0004c0004a0004c0014 | a0004c0004t0005a0004c0014t0005 | a0004c0004t0005g0009a0004c0014t0005g0007 | 2 | 50 | 0.0400 | -6 | c.287 others(25): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2344872 | CATATAT | C | intron_variant | MODIFIER | HG01928.hp1 HG02004.hp2 HG02071.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(2): Show | a0001c0001t0001g0041a0002c0002t0002g0016a0002c0002t0004g0031others(3): Show | 6 | 50 | 0.1200 | -6 | c.287 others(25): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2345382 | CCTATAA | C | intron_variant | MODIFIER | HG02486.hp2 HG02572.hp1 HG02630.hp2 others(1): Show |
a0002a0004a0010 | a0002c0005a0004c0004a0004c0014others(1): Show | a0002c0005t0004a0004c0004t0009a0004c0014t0005others(1): Show | a0002c0005t0004g0004a0004c0004t0009g0032a0004c0014t0005g0007others(1): Show | 4 | 50 | 0.0800 | -6 | c.287 others(25): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2355511 | TAAAAAA | T | intron_variant | MODIFIER | HG02630.hp2 HG03130.hp1 HG04204.hp1 |
a0001a0004a0010 | a0001c0001a0004c0004a0010c0015 | a0001c0001t0001a0004c0004t0001a0010c0015t0007 | a0001c0001t0001g0037a0004c0004t0001g0048a0010c0015t0007g0036 | 3 | 50 | 0.0600 | -6 | c.286 others(25): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2436494 | TTATTAC | T | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 50 | 0.0200 | -6 | c.110 others(25): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2437694 | AGAGAGT | A | intron_variant | MODIFIER | HG01496.hp2 HG02300.hp1 HG02572.hp1 |
a0002a0004a0008 | a0002c0002a0004c0014a0008c0010 | a0002c0002t0003a0004c0014t0005a0008c0010t0014 | a0002c0002t0003g0042a0004c0014t0005g0007a0008c0010t0014g0046 | 3 | 50 | 0.0600 | -6 | c.110 others(25): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 1/6 | chrX | TogoVar |