| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CYP4F22_chr19_15503525_15557317 | 15529858 | G | A | splice_region_variant others(1): Show |
LOW | HG00621.hp2 HG02965.hp1 HG03491.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0026a0001c0001t0002g0019a0001c0001t0002g0021others(4): Show | 7 | 384 | 0.0182 | 0 | c.367 others(5): Show |
CYP4F22 | ENSG00000171954.13 | transcript | ENST00000269703.8 | protein_coding | 4/13 | chr19 | TogoVar | ||||||
| CYP4F2_chr19_15873023_15903074 | 15889700 | G | T | splice_region_variant others(1): Show |
LOW | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0076 | 1 | 380 | 0.0026 | 0 | c.648 others(5): Show |
CYP4F2 | ENSG00000186115.13 | transcript | ENST00000221700.11 | protein_coding | 6/12 | chr19 | TogoVar | ||||||
| CYP4F3_chr19_15635897_15667825 | 15652957 | G | A | splice_region_variant others(1): Show |
LOW | HG03654.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0384 | 1 | 424 | 0.0024 | 0 | c.111 others(6): Show |
CYP4F3 | ENSG00000186529.16 | transcript | ENST00000221307.13 | protein_coding | 9/12 | chr19 | TogoVar | ||||||
| CYP4F3_chr19_15635897_15667825 | 15658719 | G | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(245): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(60): Show | a0001c0001t0002g0001a0001c0001t0002g0009a0001c0001t0002g0166others(242): Show | 248 | 424 | 0.5849 | 0 | c.131 others(6): Show |
CYP4F3 | ENSG00000186529.16 | transcript | ENST00000221307.13 | protein_coding | 11/12 | chr19 | TogoVar | ||||||
| CYP4F3_chr19_15635897_15667825 | 15658720 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(245): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(60): Show | a0001c0001t0002g0001a0001c0001t0002g0009a0001c0001t0002g0166others(242): Show | 248 | 424 | 0.5849 | 0 | c.131 others(6): Show |
CYP4F3 | ENSG00000186529.16 | transcript | ENST00000221307.13 | protein_coding | 11/12 | chr19 | TogoVar | ||||||
| CYP4F3_chr19_15635897_15667825 | 15658815 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(323): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(81): Show | a0001c0001t0002g0001a0001c0001t0002g0009a0001c0001t0002g0166others(318): Show | 326 | 424 | 0.7689 | 0 | c.139 others(6): Show |
CYP4F3 | ENSG00000186529.16 | transcript | ENST00000221307.13 | protein_coding | 12/12 | chr19 | TogoVar | ||||||
| CYP4F3_chr19_15635897_15667825 | 15659216 | C | G | splice_region_variant others(1): Show |
LOW | HG02572.hp1 HG02723.hp1 HG02818.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0013a0001c0001t0044others(2): Show | a0001c0001t0009g0155a0001c0001t0009g0156a0001c0001t0009g0157others(13): Show | 16 | 424 | 0.0377 | 0 | c.139 others(6): Show |
CYP4F3 | ENSG00000186529.16 | transcript | ENST00000221307.13 | protein_coding | 12/12 | chr19 | TogoVar | ||||||
| CYP4F3_chr19_15635897_15667825 | 15659217 | A | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(280): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(68): Show | a0001c0001t0002g0001a0001c0001t0002g0009a0001c0001t0002g0166others(275): Show | 283 | 424 | 0.6675 | 0 | c.139 others(6): Show |
CYP4F3 | ENSG00000186529.16 | transcript | ENST00000221307.13 | protein_coding | 12/12 | chr19 | TogoVar | ||||||
| CYP4F8_chr19_15610218_15635639 | 15628851 | C | T | splice_region_variant others(1): Show |
LOW | HG02630.hp2 HG02965.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0008a0001c0004t0012 | a0001c0004t0008g0060a0001c0004t0008g0061a0001c0004t0008g0062others(2): Show | 5 | 412 | 0.0121 | 0 | c.139 others(6): Show |
CYP4F8 | ENSG00000186526.13 | transcript | ENST00000612078.5 | protein_coding | 12/12 | chr19 | TogoVar | ||||||
| CYP4V2_chr4_186186567_186218463 | 186201149 | T | G | splice_region_variant others(1): Show |
LOW | NA18949.hp1 | a0012 | a0012c0021 | a0012c0021t0013 | a0012c0021t0013g0184 | 1 | 452 | 0.0022 | 0 | c.802 others(5): Show |
CYP4V2 | ENSG00000145476.16 | transcript | ENST00000378802.5 | protein_coding | 6/10 | chr4 | TogoVar | ||||||
| CYP4V2_chr4_186186567_186218463 | 186201150 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(127): Show |
a0002a0004a0006others(1): Show | a0002c0001a0004c0003a0004c0028others(2): Show | a0002c0001t0001a0002c0001t0002a0002c0001t0003others(36): Show | a0002c0001t0001g0001a0002c0001t0001g0065a0002c0001t0001g0068others(92): Show | 130 | 452 | 0.2876 | 0 | c.802 others(5): Show |
CYP4V2 | ENSG00000145476.16 | transcript | ENST00000378802.5 | protein_coding | 6/10 | chr4 | TogoVar | ||||||
| CYP4V2_chr4_186186567_186218463 | 186201150 | CATACAGG others(8): Show |
C | splice_acceptor_variant others(3): Show |
HIGH | NA18949.hp1 | a0012 | a0012c0021 | a0012c0021t0013 | a0012c0021t0013g0184 | 1 | 452 | 0.0022 | -15 | c.802 others(24): Show |
p.Val others(13): Show |
CYP4V2 | ENSG00000145476.16 | transcript | ENST00000378802.5 | protein_coding | 7/11 | 802/1578 | 268/525 | chr4 | TogoVar | |||
| CYP4V2_chr4_186186567_186218463 | 186201345 | A | G | splice_region_variant others(1): Show |
LOW | HG03516.hp2 | a0003 | a0003c0006 | a0003c0006t0024 | a0003c0006t0024g0132 | 1 | 452 | 0.0022 | 0 | c.987 others(5): Show |
CYP4V2 | ENSG00000145476.16 | transcript | ENST00000378802.5 | protein_coding | 7/10 | chr4 | TogoVar | ||||||
| CYP4V2_chr4_186186567_186218463 | 186208861 | T | A | splice_region_variant others(1): Show |
LOW | HG01891.hp2 HG02895.hp2 |
a0002a0004 | a0002c0022a0004c0026 | a0002c0022t0098a0004c0026t0073 | a0002c0022t0098g0084a0004c0026t0073g0136 | 2 | 452 | 0.0044 | 0 | c.109 others(6): Show |
CYP4V2 | ENSG00000145476.16 | transcript | ENST00000378802.5 | protein_coding | 8/10 | chr4 | TogoVar | ||||||
| CYP4X1_chr1_47018669_47055751 | 47035798 | T | A | splice_region_variant others(1): Show |
LOW | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 350 | 0.0029 | 0 | c.493 others(5): Show |
CYP4X1 | ENSG00000186377.8 | transcript | ENST00000371901.4 | protein_coding | 4/11 | chr1 | TogoVar | ||||||
| CYP4X1_chr1_47018669_47055751 | 47049416 | T | A | splice_region_variant others(1): Show |
LOW | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 350 | 0.0029 | 0 | c.127 others(6): Show |
CYP4X1 | ENSG00000186377.8 | transcript | ENST00000371901.4 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
| CYP4Z1_chr1_47062231_47123318 | 47084752 | A | G | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00408.hp2 HG02080.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0168others(8): Show | 15 | 318 | 0.0472 | 0 | c.617 others(5): Show |
CYP4Z1 | ENSG00000186160.5 | transcript | ENST00000334194.4 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
| CYP4Z1_chr1_47062231_47123318 | 47106267 | AAAACTTT others(21): Show |
A | splice_region_variant others(1): Show |
LOW | NA18975.hp1 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0153 | 1 | 318 | 0.0031 | -28 | c.120 others(42): Show |
CYP4Z1 | ENSG00000186160.5 | transcript | ENST00000334194.4 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CYP4Z1_chr1_47062231_47123318 | 47117760 | C | T | splice_region_variant others(1): Show |
LOW | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 318 | 0.0031 | 0 | c.135 others(6): Show |
CYP4Z1 | ENSG00000186160.5 | transcript | ENST00000334194.4 | protein_coding | 11/11 | chr1 | TogoVar | ||||||
| CYP51A1_chr7_92107153_92139477 | 92123736 | G | A | splice_region_variant others(1): Show |
LOW | HG02922.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0093 | 1 | 392 | 0.0026 | 0 | c.888 others(3): Show |
p.Tyr others(6): Show |
CYP51A1 | ENSG00000001630.18 | transcript | ENST00000003100.13 | protein_coding | 6/10 | 1001/3155 | 888/1530 | 296/509 | chr7 | TogoVar | ||
| CYP7A1_chr8_58485178_58505163 | 58494506 | C | T | missense_variant others(1): Show |
MODERATE | HG02080.hp1 HG02818.hp2 HG02965.hp1 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009a0002c0002t0001g0024a0002c0002t0001g0086others(1): Show | 16 | 456 | 0.0351 | 0 | c.103 others(4): Show |
p.Asp others(6): Show |
CYP7A1 | ENSG00000167910.4 | transcript | ENST00000301645.4 | protein_coding | 4/6 | 1104/2877 | 1039/1515 | 347/504 | chr8 | TogoVar | ||
| CYRIB_chr8_129834593_130021560 | 129871368 | G | A | splice_region_variant others(1): Show |
LOW | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 288 | 0.0035 | 0 | c.195 others(5): Show |
CYRIB | ENSG00000153310.22 | transcript | ENST00000694912.1 | protein_coding | 6/13 | chr8 | TogoVar | ||||||
| CYRIB_chr8_129834593_130021560 | 129904492 | A | G | splice_region_variant others(1): Show |
LOW | HG02572.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0191a0001c0001t0009g0204 | 2 | 288 | 0.0069 | 0 | c.-50 others(5): Show |
CYRIB | ENSG00000153310.22 | transcript | ENST00000694912.1 | protein_coding | 3/13 | chr8 | TogoVar | ||||||
| CYTH1_chr17_78669048_78787273 | 78692497 | C | A | splice_region_variant others(1): Show |
LOW | HG02451.hp2 HG02572.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0107a0001c0001t0003g0363a0001c0001t0003g0364others(6): Show | 9 | 378 | 0.0238 | 0 | c.815 others(5): Show |
CYTH1 | ENSG00000108669.18 | transcript | ENST00000446868.8 | protein_coding | 10/13 | chr17 | TogoVar | ||||||
| CYTH2_chr19_48464369_48487314 | 48478152 | G | A | splice_region_variant others(1): Show |
LOW | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 366 | 0.0027 | 0 | c.885 others(5): Show |
CYTH2 | ENSG00000105443.17 | transcript | ENST00000452733.7 | protein_coding | 9/11 | chr19 | TogoVar | ||||||
| CYTH2_chr19_48464369_48487314 | 48478354 | C | G | splice_region_variant others(1): Show |
LOW | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 366 | 0.0027 | 0 | c.957 others(5): Show |
CYTH2 | ENSG00000105443.17 | transcript | ENST00000452733.7 | protein_coding | 10/11 | chr19 | TogoVar | ||||||
| CYTH3_chr7_6156779_6277624 | 6170985 | C | G | splice_region_variant others(1): Show |
LOW | NA18941.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 348 | 0.0029 | 0 | c.563 others(5): Show |
CYTH3 | ENSG00000008256.17 | transcript | ENST00000350796.8 | protein_coding | 7/12 | chr7 | TogoVar | ||||||
| CYTIP_chr2_157409619_157449089 | 157427424 | T | A | splice_region_variant others(1): Show |
LOW | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 320 | 0.0031 | 0 | c.477 others(5): Show |
CYTIP | ENSG00000115165.10 | transcript | ENST00000264192.8 | protein_coding | 5/7 | chr2 | TogoVar | ||||||
| CYTL1_chr4_5009586_5024458 | 5019294 | G | A | missense_variant others(1): Show |
MODERATE | HG00735.hp2 HG03017.hp1 HG03834.hp2 |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0029a0003c0006t0001g0073 | 3 | 446 | 0.0067 | 0 | c.152 others(3): Show |
p.Ser others(5): Show |
CYTL1 | ENSG00000170891.11 | transcript | ENST00000307746.9 | protein_coding | 1/4 | 165/989 | 152/411 | 51/136 | chr4 | TogoVar | ||
| CZIB_chr1_53209099_53225634 | 53216062 | G | C | splice_region_variant others(1): Show |
LOW | HG02630.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 2 | 436 | 0.0046 | 0 | c.340 others(5): Show |
CZIB | ENSG00000162384.14 | transcript | ENST00000294360.5 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241735134 | C | G | splice_region_variant | LOW | HG00741.hp1 HG01074.hp2 HG01167.hp1 others(9): Show |
a0001a0004a0018 | a0001c0001a0001c0012a0004c0005others(1): Show | a0001c0001t0016a0001c0001t0029a0001c0001t0031others(5): Show | a0001c0001t0016g0181a0001c0001t0016g0184a0001c0001t0029g0014others(8): Show | 12 | 412 | 0.0291 | 0 | c.-91 others(3): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241751375 | AGAGGAAA others(67): Show |
A | frameshift_variant others(3): Show |
HIGH | NA19083.hp1 | a0011 | a0011c0035 | a0011c0035t0001 | a0011c0035t0001g0304 | 1 | 412 | 0.0024 | -74 | c.113 others(86): Show |
p.Arg others(5): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 8/10 | 1288/2566 | 1130/1566 | 377/521 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| D2HGDH_chr2_241729630_241773811 | 241756020 | C | T | splice_region_variant others(1): Show |
LOW | NA18998.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0123 | 1 | 412 | 0.0024 | 0 | c.130 others(6): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | chr2 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241767711 | A | G | splice_region_variant others(1): Show |
LOW | HG02572.hp1 HG02647.hp2 |
a0001a0004 | a0001c0029a0004c0023 | a0001c0029t0002a0004c0023t0002 | a0001c0029t0002g0158a0004c0023t0002g0174 | 2 | 412 | 0.0049 | 0 | c.130 others(4): Show |
p.Gly others(6): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 10/10 | 1466/2566 | 1308/1566 | 436/521 | chr2 | TogoVar | ||
| DAAM1_chr14_59183667_59376403 | 59330495 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG01192.hp1 HG01433.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0014a0001c0004t0043a0001c0004t0050 | a0001c0004t0014g0024a0001c0004t0014g0042a0001c0004t0014g0045others(4): Show | 7 | 298 | 0.0235 | 0 | c.137 others(6): Show |
DAAM1 | ENSG00000100592.16 | transcript | ENST00000360909.8 | protein_coding | 12/24 | chr14 | TogoVar | ||||||
| DAAM2_chr6_39787376_39909869 | 39792463 | G | C | splice_region_variant | LOW | HG02922.hp2 HG03130.hp2 NA19240.hp1 |
a0001 | a0001c0001a0001c0004a0001c0014 | a0001c0001t0017a0001c0004t0031a0001c0014t0017 | a0001c0001t0017g0267a0001c0004t0031g0294a0001c0014t0017g0266 | 3 | 300 | 0.0100 | 0 | c.-59 others(3): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 1/25 | chr6 | TogoVar | ||||||
| DAAM2_chr6_39787376_39909869 | 39896988 | C | T | splice_region_variant others(1): Show |
LOW | HG02280.hp1 HG02965.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0030a0001c0005t0011g0042a0001c0005t0011g0092others(1): Show | 4 | 300 | 0.0133 | 0 | c.251 others(6): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 20/24 | chr6 | TogoVar | ||||||
| DAAM2_chr6_39787376_39909869 | 39901805 | G | A | splice_region_variant others(1): Show |
LOW | HG02109.hp1 | a0001 | a0001c0008 | a0001c0008t0005 | a0001c0008t0005g0166 | 1 | 300 | 0.0033 | 0 | c.298 others(6): Show |
DAAM2 | ENSG00000146122.17 | transcript | ENST00000274867.9 | protein_coding | 24/24 | chr6 | TogoVar | ||||||
| DAB1_chr1_56989778_57429060 | 57290956 | A | G | splice_region_variant others(1): Show |
LOW | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0025 | 1 | 138 | 0.0073 | 0 | c.67+ others(4): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 2/14 | chr1 | TogoVar | ||||||
| DAB1_chr1_56989778_57429060 | 57291170 | C | A | splice_region_variant others(1): Show |
LOW | HG03486.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0018a0001c0001t0011g0085 | 2 | 138 | 0.0145 | 0 | c.-13 others(6): Show |
DAB1 | ENSG00000173406.16 | transcript | ENST00000371236.7 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
| DAB2_chr5_39366677_39429980 | 39392367 | C | T | missense_variant others(1): Show |
MODERATE | HG02273.hp2 | a0010 | a0010c0012 | a0010c0012t0001 | a0010c0012t0001g0306 | 1 | 414 | 0.0024 | 0 | c.328 others(3): Show |
p.Gly others(6): Show |
DAB2 | ENSG00000153071.15 | transcript | ENST00000320816.11 | protein_coding | 4/15 | 606/4345 | 328/2313 | 110/770 | chr5 | TogoVar | ||
| DACH1_chr13_71432966_71872204 | 71630557 | G | C | splice_region_variant others(1): Show |
LOW | HG01433.hp1 HG01978.hp2 HG02004.hp1 |
a0001a0002 | a0001c0006a0002c0011 | a0001c0006t0001a0001c0006t0003a0002c0011t0003 | a0001c0006t0001g0057a0001c0006t0003g0056a0002c0011t0003g0080 | 3 | 102 | 0.0294 | 0 | c.112 others(4): Show |
p.Val others(6): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 3/11 | 1560/5245 | 1125/2121 | 375/706 | chr13 | TogoVar | ||
| DACT2_chr6_168301904_168324777 | 168310453 | G | A | splice_region_variant others(1): Show |
LOW | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0086 | 1 | 476 | 0.0021 | 0 | c.380 others(5): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
| DAGLB_chr7_6404129_6452954 | 6432830 | G | A | splice_region_variant others(1): Show |
LOW | HG01516.hp2 HG01517.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0033a0002c0003t0001g0048 | 2 | 380 | 0.0053 | 0 | c.801 others(5): Show |
DAGLB | ENSG00000164535.15 | transcript | ENST00000297056.11 | protein_coding | 5/14 | chr7 | TogoVar | ||||||
| DAOA_chr13_105461045_105496034 | 105490190 | G | A | splice_region_variant | LOW | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0119 | 1 | 412 | 0.0024 | 0 | c.*10 others(4): Show |
DAOA | ENSG00000182346.22 | transcript | ENST00000375936.9 | protein_coding | 5/6 | chr13 | TogoVar | ||||||
| DAO_chr12_108875092_108906043 | 108901041 | A | G | splice_region_variant | LOW | HG01884.hp2 HG02818.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0006a0001c0005t0006 | a0001c0002t0006g0136a0001c0005t0006g0135 | 2 | 388 | 0.0052 | 0 | c.*50 others(4): Show |
DAO | ENSG00000110887.8 | transcript | ENST00000228476.8 | protein_coding | 11/11 | chr12 | TogoVar | ||||||
| DAP3_chr1_155684091_155744010 | 155709752 | CT | C | splice_region_variant others(1): Show |
LOW | HG02109.hp1 HG02145.hp2 HG02258.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0010 | a0001c0001t0004g0030a0001c0001t0004g0037a0001c0001t0004g0038others(23): Show | 28 | 288 | 0.0972 | -1 | c.-7- others(5): Show |
DAP3 | ENSG00000132676.16 | transcript | ENST00000368336.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| DAP3_chr1_155684091_155744010 | 155731352 | G | A | splice_region_variant others(1): Show |
LOW | HG00438.hp2 HG02135.hp2 HG02523.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0003a0002c0003t0008others(2): Show | a0001c0001t0002g0192a0002c0003t0003g0179a0002c0003t0003g0181others(8): Show | 11 | 288 | 0.0382 | 0 | c.844 others(5): Show |
DAP3 | ENSG00000132676.16 | transcript | ENST00000368336.10 | protein_coding | 9/12 | chr1 | TogoVar | ||||||
| DAPK1_chr9_87492867_87713634 | 87646454 | A | G | splice_region_variant others(1): Show |
LOW | HG02922.hp2 HG02976.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0035a0002c0003t0002g0233 | 2 | 236 | 0.0085 | 0 | c.113 others(6): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 12/25 | chr9 | TogoVar | ||||||
| DAPK1_chr9_87492867_87713634 | 87647299 | C | G | splice_region_variant others(1): Show |
LOW | HG02622.hp2 HG02818.hp2 HG03516.hp2 others(1): Show |
a0002a0007 | a0002c0015a0007c0035 | a0002c0015t0002a0002c0015t0006a0007c0035t0002 | a0002c0015t0002g0162a0002c0015t0002g0218a0002c0015t0006g0040others(1): Show | 4 | 236 | 0.0170 | 0 | c.123 others(6): Show |
DAPK1 | ENSG00000196730.13 | transcript | ENST00000408954.8 | protein_coding | 13/25 | chr9 | TogoVar |