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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DESI1_chr22_41593028_41626043 | 41614590 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG01496.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014a0001c0001t0004g0033a0001c0001t0004g0208others(6): Show | 12 | 308 | 0.0390 | 9 | c.88+ others(24): Show |
DESI1 | ENSG00000100418.8 | transcript | ENST00000263256.7 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
DES_chr2_219413377_219431734 | 219422463 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01167.hp1 others(12): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001a0001c0005t0003 | a0001c0002t0001g0008a0001c0002t0001g0023a0001c0005t0001g0037others(2): Show | 15 | 376 | 0.0399 | 9 | c.124 others(26): Show |
DES | ENSG00000175084.13 | transcript | ENST00000373960.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DET1_chr15_88507480_88551681 | 88515538 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00733.hp2 HG00741.hp1 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0002a0001c0002t0002a0003c0006t0002 | a0001c0001t0002g0006a0001c0001t0002g0025a0001c0001t0002g0132others(13): Show | 18 | 402 | 0.0448 | 9 | c.146 others(28): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 4/4 | chr15 | TogoVar | ||||||
DET1_chr15_88507480_88551681 | 88536770 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02027.hp2 others(15): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0008 | a0001c0001t0001a0001c0003t0001a0004c0008t0001 | a0001c0001t0001g0055a0001c0001t0001g0062a0001c0001t0001g0063others(15): Show | 18 | 402 | 0.0448 | 9 | c.-10 others(26): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 1/4 | chr15 | TogoVar | ||||||
DET1_chr15_88507480_88551681 | 88545664 | T | TCAATATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(294): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0009others(275): Show | 297 | 402 | 0.7388 | 9 | c.-11 others(24): Show |
DET1 | ENSG00000140543.15 | transcript | ENST00000268148.13 | protein_coding | 1/4 | chr15 | TogoVar | ||||||
DFFB_chr1_3852476_3890429 | 3852901 | C | CGGCCAAG others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(137): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0021others(110): Show | 140 | 404 | 0.3465 | 9 | c.-47 others(20): Show |
DFFB | ENSG00000169598.17 | transcript | ENST00000378209.8 | protein_coding | 4574 | chr1 | TogoVar | ||||||
DGAT2L6_chrX_70172483_70210704 | 70182469 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 274 | 0.0037 | 9 | c.85+ others(24): Show |
DGAT2L6 | ENSG00000184210.6 | transcript | ENST00000333026.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DGCR2_chr22_19031286_19127412 | 19044242 | G | GCCCAGGG others(2): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02165.hp2 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221a0001c0001t0001g0243a0001c0001t0001g0306 | 3 | 344 | 0.0087 | 9 | c.100 others(28): Show |
DGCR2 | ENSG00000070413.21 | transcript | ENST00000263196.12 | protein_coding | 7/9 | chr22 | TogoVar | ||||||
DGCR8_chr22_20075241_20116872 | 20077152 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00621.hp2 others(17): Show |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0016others(12): Show | 20 | 419 | 0.0477 | 9 | c.-35 others(20): Show |
DGCR8 | ENSG00000128191.17 | transcript | ENST00000351989.8 | protein_coding | 3088 | chr22 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14265318 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01169.hp2 HG02056.hp2 others(5): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0045a0001c0001t0001g0098a0001c0002t0002g0128others(5): Show | 8 | 148 | 0.0541 | 9 | c.212 others(30): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14418734 | T | TTCATTAG others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01993.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0039a0001c0002t0002 | a0001c0001t0039g0022a0001c0002t0002g0020 | 2 | 148 | 0.0135 | 9 | c.183 others(30): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14689199 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02145.hp1 HG02280.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0041a0001c0002t0003a0001c0003t0036others(1): Show | a0001c0001t0041g0147a0001c0002t0003g0010a0001c0002t0003g0058others(3): Show | 6 | 148 | 0.0405 | 9 | c.712 others(26): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 9/25 | chr7 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14758928 | G | GATAGATA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG03471.hp1 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0013a0001c0012t0003 | a0001c0002t0013g0104a0001c0012t0003g0015 | 2 | 148 | 0.0135 | 9 | c.71- others(24): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 2/25 | chr7 | TogoVar | ||||||
DGKE_chr17_56829151_56874567 | 56872549 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01934.hp1 HG01978.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0011 | a0001c0001t0009a0001c0001t0012a0001c0002t0056others(1): Show | a0001c0001t0009g0009a0001c0001t0009g0141a0001c0001t0012g0038others(2): Show | 6 | 324 | 0.0185 | 9 | c.*97 others(20): Show |
DGKE | ENSG00000153933.10 | transcript | ENST00000284061.8 | protein_coding | 2983 | chr17 | TogoVar | ||||||
DGKG_chr3_186142201_186367234 | 186146024 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01167.hp1 others(13): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0002c0005others(1): Show | a0001c0002t0002a0001c0002t0009a0001c0002t0024others(4): Show | a0001c0002t0002g0030a0001c0002t0002g0033a0001c0002t0002g0055others(13): Show | 16 | 234 | 0.0684 | 9 | c.*40 others(20): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 1176 | chr3 | TogoVar | ||||||
DGKG_chr3_186142201_186367234 | 186194803 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG01069.hp2 others(5): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0001a0002c0005others(4): Show | a0001c0002t0001a0001c0002t0009a0002c0001t0017others(5): Show | a0001c0002t0001g0136a0001c0002t0009g0187a0002c0001t0017g0005others(5): Show | 8 | 234 | 0.0342 | 9 | c.191 others(28): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 21/24 | chr3 | TogoVar | ||||||
DGKG_chr3_186142201_186367234 | 186299840 | T | TCTTTCTT others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG03492.hp1 |
a0001 | a0001c0002a0001c0015 | a0001c0002t0006a0001c0015t0003 | a0001c0002t0006g0143a0001c0015t0003g0225 | 2 | 234 | 0.0086 | 9 | c.145 others(26): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 3/24 | chr3 | TogoVar | ||||||
DGKG_chr3_186142201_186367234 | 186310265 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01070.hp2 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0001others(5): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0004others(24): Show | a0001c0002t0002g0022a0001c0002t0002g0033a0001c0002t0002g0084others(36): Show | 39 | 234 | 0.1667 | 9 | c.68- others(24): Show |
DGKG | ENSG00000058866.15 | transcript | ENST00000265022.8 | protein_coding | 2/24 | chr3 | TogoVar | ||||||
DGKH_chr13_42043648_42247896 | 42049052 | C | CGGGAAGG others(2): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 HG03486.hp1 others(1): Show |
a0001a0013 | a0001c0002a0001c0004a0013c0015 | a0001c0002t0024a0001c0002t0030a0001c0004t0001others(1): Show | a0001c0002t0024g0007a0001c0002t0030g0006a0001c0004t0001g0008others(1): Show | 4 | 316 | 0.0127 | 9 | c.192 others(24): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DGKH_chr13_42043648_42247896 | 42095156 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01074.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0033a0001c0001t0034others(10): Show | a0001c0001t0002g0041a0001c0001t0002g0083a0001c0001t0002g0139others(16): Show | 19 | 316 | 0.0601 | 9 | c.193 others(28): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DGKH_chr13_42043648_42247896 | 42135507 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02145.hp2 HG04204.hp1 others(11): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0075a0001c0003t0006a0001c0003t0105others(2): Show | a0001c0002t0075g0176a0001c0003t0006g0174a0001c0003t0006g0175others(11): Show | 14 | 316 | 0.0443 | 9 | c.384 others(26): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(2): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00438.hp2 HG00597.hp1 others(66): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0002a0001c0001t0015a0001c0001t0021others(40): Show | a0001c0001t0002g0052a0001c0001t0002g0083a0001c0001t0002g0139others(66): Show | 69 | 316 | 0.2184 | 9 | c.623 others(21): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DGKI_chr7_137376037_137851974 | 137588475 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02895.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0008others(2): Show | a0001c0002t0034a0001c0004t0003a0001c0008t0020others(2): Show | a0001c0002t0034g0011a0001c0004t0003g0077a0001c0008t0020g0048others(2): Show | 5 | 94 | 0.0532 | 9 | c.131 others(28): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 12/32 | chr7 | TogoVar | ||||||
DGKI_chr7_137376037_137851974 | 137618152 | T | TATGTATA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG02922.hp2 others(1): Show |
a0001 | a0001c0006a0001c0009a0001c0017 | a0001c0006t0013a0001c0009t0010a0001c0009t0043others(1): Show | a0001c0006t0013g0012a0001c0009t0010g0072a0001c0009t0043g0082others(1): Show | 4 | 94 | 0.0426 | 9 | c.993 others(26): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 8/32 | chr7 | TogoVar | ||||||
DGKI_chr7_137376037_137851974 | 137679990 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0007a0001c0004t0010a0001c0006t0013others(3): Show | a0001c0001t0007g0010a0001c0004t0010g0087a0001c0006t0013g0012others(3): Show | 6 | 94 | 0.0638 | 9 | c.511 others(26): Show |
DGKI | ENSG00000157680.17 | transcript | ENST00000614521.2 | protein_coding | 2/32 | chr7 | TogoVar | ||||||
DGKK_chrX_50360409_50475825 | 50428195 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03471.hp1 HG03486.hp1 |
a0005 | a0005c0008 | a0005c0008t0003 | a0005c0008t0003g0023a0005c0008t0003g0169a0005c0008t0003g0196 | 3 | 248 | 0.0121 | 9 | c.646 others(26): Show |
DGKK | ENSG00000274588.2 | transcript | ENST00000611977.2 | protein_coding | 1/27 | chrX | TogoVar | ||||||
DGKK_chrX_50360409_50475825 | 50447385 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 248 | 0.0040 | 9 | c.645 others(28): Show |
DGKK | ENSG00000274588.2 | transcript | ENST00000611977.2 | protein_coding | 1/27 | chrX | TogoVar | ||||||
DGKK_chrX_50360409_50475825 | 50447396 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0022 | 1 | 248 | 0.0040 | 9 | c.645 others(28): Show |
DGKK | ENSG00000274588.2 | transcript | ENST00000611977.2 | protein_coding | 1/27 | chrX | TogoVar | ||||||
DGLUCY_chr14_91109073_91230632 | 91185271 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01109.hp2 HG02630.hp1 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0022others(2): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0001others(3): Show | a0001c0001t0001g0216a0001c0001t0005g0213a0002c0002t0001g0004others(3): Show | 6 | 216 | 0.0278 | 9 | c.935 others(26): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DGLUCY_chr14_91109073_91230632 | 91202058 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02717.hp1 others(7): Show |
a0002a0005a0009others(2): Show | a0002c0002a0005c0009a0009c0016others(2): Show | a0002c0002t0001a0005c0009t0001a0009c0016t0001others(2): Show | a0002c0002t0001g0100a0005c0009t0001g0145a0005c0009t0001g0146others(7): Show | 10 | 216 | 0.0463 | 9 | c.144 others(28): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DGLUCY_chr14_91109073_91230632 | 91205754 | C | CTCTTCTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01109.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001a0003c0003t0003 | a0001c0001t0001g0063a0001c0001t0001g0107a0003c0003t0001g0121others(2): Show | 5 | 216 | 0.0232 | 9 | c.156 others(26): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DGLUCY_chr14_91109073_91230632 | 91207161 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00733.hp2 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0010a0002c0002t0001others(8): Show | a0001c0001t0001g0047a0001c0001t0001g0058a0001c0001t0001g0061others(52): Show | 55 | 216 | 0.2546 | 9 | c.156 others(28): Show |
DGLUCY | ENSG00000133943.21 | transcript | ENST00000256324.15 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
DGUOK_chr2_73921880_73963946 | 73923649 | G | GAAAAGAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0044a0001c0001t0001g0188 | 4 | 352 | 0.0114 | 9 | c.-32 others(20): Show |
DGUOK | ENSG00000114956.20 | transcript | ENST00000264093.9 | protein_coding | 3230 | chr2 | TogoVar | ||||||
DHFR_chr5_80621226_80659983 | 80654905 | G | GCCGCAGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00609.hp1 others(60): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0011a0001c0001t0014others(8): Show | a0001c0001t0002g0001a0001c0001t0002g0023a0001c0001t0002g0054others(45): Show | 63 | 376 | 0.1676 | 9 | c.-42 others(18): Show |
DHFR | ENSG00000228716.7 | transcript | ENST00000439211.7 | protein_coding | 1/6 | 417 | chr5 | TogoVar | |||||
DHRS1_chr14_24285598_24304780 | 24294589 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00735.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0016a0001c0001t0001g0046others(4): Show | 14 | 414 | 0.0338 | 9 | c.375 others(26): Show |
DHRS1 | ENSG00000157379.14 | transcript | ENST00000288111.12 | protein_coding | 4/8 | chr14 | TogoVar | ||||||
DHRS7B_chr17_21121964_21196420 | 21140022 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01081.hp2 others(31): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0009t0001others(1): Show | a0001c0001t0001g0100a0001c0001t0001g0103a0001c0001t0001g0104others(31): Show | 34 | 382 | 0.0890 | 9 | c.20+ others(26): Show |
DHRS7B | ENSG00000109016.18 | transcript | ENST00000395511.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DHRS7C_chr17_9766438_9796592 | 9786328 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02155.hp2 HG02257.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0053a0001c0001t0001g0057others(3): Show | 7 | 424 | 0.0165 | 9 | c.155 others(26): Show |
DHRS7C | ENSG00000184544.12 | transcript | ENST00000571134.2 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2227985 | G | GAGGGAGG others(2): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0018 | 1 | 50 | 0.0200 | 9 | c.805 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2228463 | A | AGGGAGGG others(2): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0031 | 1 | 50 | 0.0200 | 9 | c.805 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2228470 | G | GAAGGGAG others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02630.hp1 |
a0002a0005 | a0002c0005a0005c0008 | a0002c0005t0004a0002c0005t0008a0005c0008t0006 | a0002c0005t0004g0004a0002c0005t0008g0010a0005c0008t0006g0001 | 3 | 50 | 0.0600 | 9 | c.805 others(26): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 6/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2243788 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 50 | 0.0200 | 9 | c.597 others(24): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 5/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2243795 | T | TTTTGTTT others(2): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0017 | 1 | 50 | 0.0200 | 9 | c.597 others(24): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 5/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2314277 | A | AGGGAGGC others(2): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 50 | 0.0200 | 9 | c.287 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2328079 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01496.hp1 HG01496.hp2 others(16): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0005others(6): Show | a0001c0001t0001a0001c0001t0012a0002c0002t0003others(8): Show | a0001c0001t0001g0003a0001c0001t0001g0021a0001c0001t0001g0023others(16): Show | 19 | 50 | 0.3800 | 9 | c.287 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2330097 | G | GGGGGGGG others(2): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 50 | 0.0200 | 9 | c.287 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2331436 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0048 | 1 | 50 | 0.0200 | 9 | c.287 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2370590 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 50 | 0.0200 | 9 | c.286 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2436461 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01928.hp1 HG02886.hp2 |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0002c0002t0003a0005c0006t0004 | a0001c0001t0001g0041a0002c0002t0003g0008a0005c0006t0004g0034 | 3 | 50 | 0.0600 | 9 | c.110 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2460582 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 50 | 0.0200 | 9 | c.110 others(28): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DHTKD1_chr10_12063954_12128221 | 12127557 | G | GACACCCC others(2): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 HG02040.hp2 HG04199.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0137a0001c0001t0001g0168a0001c0001t0001g0304others(2): Show | 5 | 374 | 0.0134 | 9 | c.*66 others(20): Show |
DHTKD1 | ENSG00000181192.12 | transcript | ENST00000263035.9 | protein_coding | 4337 | chr10 | TogoVar |