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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACER3_chr11_76855918_77031797 | 76864596 | A | ATTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(19): Show | a0001c0001t0002g0135a0001c0001t0002g0140a0001c0001t0002g0142others(58): Show | 61 | 346 | 0.1763 | 6 | c.103 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76867468 | C | CAAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02818.hp1 HG02922.hp1 others(5): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0130a0001c0003t0131a0001c0003t0132others(4): Show | a0001c0003t0130g0346a0001c0003t0131g0342a0001c0003t0132g0343others(5): Show | 8 | 346 | 0.0231 | 6 | c.103 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76868383 | C | CTGTGTG | intron_variant | MODIFIER | HG01192.hp2 HG01975.hp1 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012 | a0001c0001t0002g0135a0001c0001t0002g0178a0001c0001t0012g0179 | 3 | 346 | 0.0087 | 6 | c.103 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76868391 | C | CTGTGTG | intron_variant | MODIFIER | HG02109.hp1 HG02132.hp2 HG02486.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0021a0002c0002t0041others(3): Show | a0002c0002t0001g0245a0002c0002t0021g0006a0002c0002t0021g0011others(5): Show | 8 | 346 | 0.0231 | 6 | c.103 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76875107 | C | CTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00735.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(14): Show | a0001c0001t0003g0023a0001c0001t0004g0077a0001c0001t0004g0078others(20): Show | 23 | 346 | 0.0665 | 6 | c.103 others(25): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76924973 | C | CAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00735.hp2 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0014a0001c0001t0022others(7): Show | a0001c0001t0003g0032a0001c0001t0014g0205a0001c0001t0014g0210others(9): Show | 12 | 346 | 0.0347 | 6 | c.104 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76933173 | C | CATATAT | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG00741.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0014a0001c0001t0017a0001c0001t0029others(3): Show | a0001c0001t0014g0199a0001c0001t0014g0205a0001c0001t0014g0206others(9): Show | 12 | 346 | 0.0347 | 6 | c.214 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 76948211 | C | CTGTGTG | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01071.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(6): Show | a0001c0001t0002g0157a0001c0001t0002g0178a0001c0001t0002g0194others(8): Show | 11 | 346 | 0.0318 | 6 | c.215 others(25): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 77010163 | A | AAATAAT | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp1 HG00735.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0012others(14): Show | a0001c0001t0002g0140a0001c0001t0002g0142a0001c0001t0002g0144others(27): Show | 30 | 346 | 0.0867 | 6 | c.498 others(23): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ACER3_chr11_76855918_77031797 | 77025392 | T | TTATATA | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp2 others(70): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(17): Show | a0001c0001t0002g0131a0001c0001t0002g0135a0001c0001t0002g0140others(70): Show | 73 | 346 | 0.2110 | 6 | c.*50 others(17): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | 5085 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
ACER3_chr11_76855918_77031797 | 77025408 | A | ATATATT | 3_prime_UTR_variant | MODIFIER | HG02129.hp1 HG03041.hp2 HG03471.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0037a0001c0001t0074a0001c0001t0088others(1): Show | a0001c0001t0037g0099a0001c0001t0037g0128a0001c0001t0074g0129others(2): Show | 5 | 346 | 0.0145 | 6 | c.*50 others(17): Show |
ACER3 | ENSG00000078124.13 | transcript | ENST00000532485.6 | protein_coding | 11/11 | 5085 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
ACE_chr17_63472061_63503373 | 63477132 | T | TGCTGCC | disruptive_inframe_insertion | MODERATE | HG01884.hp2 HG01891.hp2 HG02280.hp2 others(5): Show |
a0005a0009 | a0005c0012a0005c0020a0009c0019 | a0005c0012t0001a0005c0020t0001a0009c0019t0001 | a0005c0012t0001g0010a0005c0012t0001g0051a0005c0020t0001g0010others(2): Show | 8 | 374 | 0.0214 | 6 | c.50_ others(11): Show |
p.Pro others(11): Show |
ACE | ENSG00000159640.17 | transcript | ENST00000290866.10 | protein_coding | 1/25 | 90/4962 | 56/3921 | 19/1306 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
ACIN1_chr14_23053564_23100136 | 23057673 | G | GGGCGGA | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01256.hp2 HG01258.hp2 others(26): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(9): Show | a0001c0001t0001g0220a0001c0001t0001g0230a0001c0001t0001g0232others(24): Show | 29 | 350 | 0.0829 | 6 | c.*14 others(17): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 890 | chr14 | TogoVar | ||||||
ACIN1_chr14_23053564_23100136 | 23064896 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(70): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0007a0002c0002others(7): Show | a0001c0001t0001a0001c0007t0002a0002c0002t0001others(10): Show | a0001c0001t0001g0168a0001c0001t0001g0238a0001c0001t0001g0272others(61): Show | 73 | 350 | 0.2086 | 6 | c.230 others(23): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 10/18 | chr14 | TogoVar | ||||||
ACIN1_chr14_23053564_23100136 | 23079574 | A | AGAACGT | disruptive_inframe_insertion | MODERATE | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(177): Show |
a0002a0003a0005others(5): Show | a0002c0002a0002c0003a0002c0016others(12): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(17): Show | a0002c0002t0001g0008a0002c0002t0001g0009a0002c0002t0001g0029others(154): Show | 180 | 350 | 0.5143 | 6 | c.175 others(15): Show |
p.Ser others(19): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 6/19 | 1784/4460 | 1760/3852 | 587/1283 | chr14 | TogoVar | ||
ACIN1_chr14_23053564_23100136 | 23079578 | C | CGTGAAT | conservative_inframe_insertion | MODERATE | HG00639.hp1 HG00738.hp2 HG00741.hp1 others(24): Show |
a0004a0012 | a0004c0006a0004c0008a0012c0022 | a0004c0006t0001a0004c0008t0002a0004c0008t0004others(1): Show | a0004c0006t0001g0004a0004c0006t0001g0015a0004c0006t0001g0016others(19): Show | 27 | 350 | 0.0771 | 6 | c.175 others(15): Show |
p.Ser others(19): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 6/19 | 1780/4460 | 1756/3852 | 586/1283 | chr14 | TogoVar | ||
ACIN1_chr14_23053564_23100136 | 23085353 | G | GAACAAC | intron_variant | MODIFIER | HG00558.hp2 HG02074.hp2 HG02818.hp1 others(11): Show |
a0007a0009a0010others(1): Show | a0007c0010a0007c0013a0009c0015others(2): Show | a0007c0010t0001a0007c0010t0003a0007c0013t0001others(3): Show | a0007c0010t0001g0146a0007c0010t0001g0147a0007c0010t0001g0148others(11): Show | 14 | 350 | 0.0400 | 6 | c.437 others(23): Show |
ACIN1 | ENSG00000100813.15 | transcript | ENST00000605057.6 | protein_coding | 4/18 | chr14 | TogoVar | ||||||
ACKR2_chr3_42804445_42872286 | 42812680 | C | CTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG00741.hp1 others(34): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(4): Show | a0001c0001t0001g0171a0001c0001t0001g0175a0001c0001t0001g0181others(34): Show | 37 | 342 | 0.1082 | 6 | c.-11 others(25): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR2_chr3_42804445_42872286 | 42816189 | C | CGTGTGT | intron_variant | MODIFIER | HG01243.hp1 HG02486.hp1 HG02559.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0006a0002c0002t0004others(1): Show | a0001c0001t0001g0190a0001c0001t0001g0191a0001c0001t0006g0064others(3): Show | 6 | 342 | 0.0175 | 6 | c.-11 others(25): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR2_chr3_42804445_42872286 | 42825577 | A | ATGTGTG | intron_variant | MODIFIER | HG02683.hp2 HG02818.hp2 HG03209.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0061a0001c0001t0001g0187a0002c0002t0004g0041 | 3 | 342 | 0.0088 | 6 | c.-38 others(23): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR2_chr3_42804445_42872286 | 42828074 | T | TTATATA | intron_variant | MODIFIER | HG01109.hp1 HG01168.hp2 HG02559.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0004 | a0001c0001t0001g0046a0001c0001t0001g0104a0002c0002t0002g0052others(1): Show | 4 | 342 | 0.0117 | 6 | c.-38 others(23): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR2_chr3_42804445_42872286 | 42860164 | C | CAAAAAA | intron_variant | MODIFIER | HG01192.hp1 HG01934.hp1 HG02698.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0053others(8): Show | 12 | 342 | 0.0351 | 6 | c.-37 others(23): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACKR2_chr3_42804445_42872286 | 42860189 | A | AAAAAAC | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00738.hp1 others(53): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0009others(5): Show | a0002c0002t0002g0002a0002c0002t0002g0014a0002c0002t0002g0015others(50): Show | 56 | 342 | 0.1637 | 6 | c.-37 others(23): Show |
ACKR2 | ENSG00000144648.16 | transcript | ENST00000422265.6 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41875428 | G | GTCTCCC | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG00733.hp2 others(28): Show |
a0002a0003 | a0002c0002a0003c0014 | a0002c0002t0002a0002c0002t0003a0002c0002t0010others(1): Show | a0002c0002t0002g0252a0002c0002t0003g0260a0002c0002t0003g0261others(28): Show | 31 | 294 | 0.1054 | 6 | c.248 others(25): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 22/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41879647 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG02293.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0060a0001c0001t0001g0068a0001c0001t0001g0079others(7): Show | 10 | 294 | 0.0340 | 6 | c.226 others(23): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 20/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41887127 | G | GAAAAAA | intron_variant | MODIFIER | HG00673.hp2 HG01106.hp1 HG01361.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0261a0002c0002t0003g0276a0002c0002t0003g0279others(4): Show | 7 | 294 | 0.0238 | 6 | c.187 others(23): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 17/28 | chr17 | TogoVar | ||||||
ACLY_chr17_41861918_41923951 | 41889524 | C | CAAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00642.hp1 others(47): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0008a0001c0001t0001g0018a0001c0001t0001g0057others(47): Show | 50 | 294 | 0.1701 | 6 | c.177 others(25): Show |
ACLY | ENSG00000131473.17 | transcript | ENST00000352035.7 | protein_coding | 16/28 | chr17 | TogoVar | ||||||
ACMSD_chr2_134833616_134907034 | 134845509 | G | GTCTCTC | intron_variant | MODIFIER | HG01070.hp1 HG01257.hp2 HG01515.hp2 others(18): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0002c0002t0001a0004c0005t0001 | a0001c0001t0001g0010a0001c0001t0001g0024a0001c0001t0001g0065others(18): Show | 21 | 382 | 0.0550 | 6 | c.102 others(21): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134860856 | C | CAAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG02027.hp1 others(33): Show |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0006 | a0001c0001t0001a0003c0003t0001a0007c0006t0001 | a0001c0001t0001g0012a0001c0001t0001g0046a0001c0001t0001g0096others(32): Show | 36 | 382 | 0.0942 | 6 | c.200 others(23): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134871678 | G | GACACAC | intron_variant | MODIFIER | HG01978.hp2 HG02717.hp2 HG03098.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0083a0001c0001t0001g0084others(10): Show | 13 | 382 | 0.0340 | 6 | c.676 others(21): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134871682 | G | GACACAC | intron_variant | MODIFIER | HG00741.hp1 HG02559.hp1 HG02809.hp2 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0009a0001c0001t0001g0014a0006c0008t0001g0348 | 3 | 382 | 0.0079 | 6 | c.676 others(21): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACMSD_chr2_134833616_134907034 | 134903715 | T | TTTGTTG | downstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01358.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308a0001c0001t0001g0344a0001c0001t0001g0345others(12): Show | 15 | 382 | 0.0393 | 6 | c.*18 others(17): Show |
ACMSD | ENSG00000153086.14 | transcript | ENST00000356140.10 | protein_coding | 1682 | chr2 | TogoVar | ||||||
ACO1_chr9_32379643_32459769 | 32457493 | A | AAAAAAG | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG01109.hp2 others(15): Show |
a0001a0012 | a0001c0001a0001c0002a0012c0028 | a0001c0001t0007a0001c0001t0084a0001c0001t0111others(4): Show | a0001c0001t0007g0030a0001c0001t0007g0039a0001c0001t0007g0054others(14): Show | 18 | 382 | 0.0471 | 6 | c.*73 others(17): Show |
ACO1 | ENSG00000122729.19 | transcript | ENST00000309951.8 | protein_coding | 2725 | chr9 | TogoVar | ||||||
ACOT11_chr1_54543228_54615329 | 54551732 | G | GTTTTGT | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0023others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0008others(8): Show | a0001c0001t0001g0023a0001c0001t0001g0126a0001c0001t0001g0296others(34): Show | 37 | 388 | 0.0954 | 6 | c.33+ others(21): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54554290 | A | AGTGTGT | intron_variant | MODIFIER | HG01167.hp1 HG01934.hp2 HG01978.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(4): Show | a0001c0001t0001g0076a0001c0001t0002g0144a0001c0001t0002g0184others(15): Show | 18 | 388 | 0.0464 | 6 | c.33+ others(21): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACOT11_chr1_54543228_54615329 | 54614939 | G | GGTGTGT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(117): Show |
a0001a0002a0006 | a0001c0001a0001c0013a0001c0024others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0013t0001others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0008a0001c0001t0001g0009others(116): Show | 120 | 388 | 0.3093 | 6 | c.*58 others(17): Show |
ACOT11 | ENSG00000162390.18 | transcript | ENST00000343744.7 | protein_coding | 4611 | chr1 | TogoVar | ||||||
ACOT12_chr5_81324996_81399134 | 81395918 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01516.hp2 HG01975.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0044a0001c0001t0001g0100a0001c0001t0001g0104others(9): Show | 12 | 278 | 0.0432 | 6 | c.-18 others(17): Show |
ACOT12 | ENSG00000172497.9 | transcript | ENST00000307624.8 | protein_coding | 1785 | chr5 | TogoVar | ||||||
ACOT7_chr1_6259272_6398767 | 6306207 | A | AGAGGGG | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01070.hp2 others(126): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0014others(125): Show | 129 | 240 | 0.5375 | 6 | c.713 others(25): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 6/8 | chr1 | TogoVar | ||||||
ACOT7_chr1_6259272_6398767 | 6336333 | C | CAAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG01175.hp2 HG02257.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0132a0001c0001t0003g0166a0001c0001t0004g0199others(6): Show | 9 | 240 | 0.0375 | 6 | c.419 others(23): Show |
ACOT7 | ENSG00000097021.21 | transcript | ENST00000361521.9 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
ACOT8_chr20_45836721_45862392 | 45838236 | A | ATTCTTT | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp1 HG01070.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009a0001c0001t0001g0044a0001c0001t0001g0120others(2): Show | 12 | 422 | 0.0284 | 6 | c.*35 others(17): Show |
ACOT8 | ENSG00000101473.17 | transcript | ENST00000217455.9 | protein_coding | 3484 | chr20 | TogoVar | ||||||
ACOT9_chrX_23696055_23748276 | 23740717 | T | TACACAC | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG03927.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0262a0001c0001t0001g0268a0001c0001t0001g0269others(5): Show | 8 | 309 | 0.0259 | 6 | c.20+ others(21): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ACOT9_chrX_23696055_23748276 | 23742209 | T | TGAGAGA | intron_variant | MODIFIER | HG03041.hp2 HG03139.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0051 | a0001c0001t0001g0150a0001c0001t0018g0152a0001c0001t0051g0151 | 3 | 309 | 0.0097 | 6 | c.20+ others(19): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ACOT9_chrX_23696055_23748276 | 23742213 | T | TGAGTGA | intron_variant | MODIFIER | HG01361.hp2 HG02622.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0039a0002c0003t0002 | a0001c0001t0039g0295a0002c0003t0002g0010 | 3 | 309 | 0.0097 | 6 | c.20+ others(19): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ACOT9_chrX_23696055_23748276 | 23742256 | G | GAGAGAT | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0070 | 1 | 309 | 0.0032 | 6 | c.20+ others(19): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ACOT9_chrX_23696055_23748276 | 23742258 | T | TAGATAG | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0013 | 1 | 309 | 0.0032 | 6 | c.20+ others(19): Show |
ACOT9 | ENSG00000123130.17 | transcript | ENST00000379303.10 | protein_coding | 1/15 | chrX | TogoVar | ||||||
ACOX1_chr17_75936507_75984166 | 75977566 | A | AAAAAAC | intron_variant | MODIFIER | HG00423.hp2 HG02132.hp2 HG02273.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0004a0001c0001t0015a0001c0001t0035others(4): Show | a0001c0001t0004g0320a0001c0001t0004g0321a0001c0001t0004g0322others(18): Show | 21 | 344 | 0.0611 | 6 | c.269 others(21): Show |
ACOX1 | ENSG00000161533.12 | transcript | ENST00000293217.10 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
ACOX2_chr3_58500136_58542190 | 58541624 | C | CTGTGTG | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01071.hp2 others(20): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0013others(18): Show | 23 | 364 | 0.0632 | 6 | c.-45 others(17): Show |
ACOX2 | ENSG00000168306.13 | transcript | ENST00000302819.10 | protein_coding | 4435 | chr3 | TogoVar | ||||||
ACOX3_chr4_8361282_8445723 | 8391031 | G | GTGTATA | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00733.hp2 others(70): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(8): Show | a0001c0001t0001g0021a0001c0001t0001g0026a0001c0001t0001g0031others(70): Show | 73 | 380 | 0.1921 | 6 | c.130 others(25): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 11/17 | chr4 | TogoVar | ||||||
ACOX3_chr4_8361282_8445723 | 8393637 | G | GCACACA | intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG02970.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0004a0001c0002t0004a0001c0006t0003 | a0001c0001t0004g0239a0001c0001t0004g0241a0001c0002t0004g0279others(5): Show | 8 | 380 | 0.0211 | 6 | c.117 others(23): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 10/17 | chr4 | TogoVar | ||||||
ACOX3_chr4_8361282_8445723 | 8400250 | C | CAATAAT | intron_variant | MODIFIER | HG01070.hp2 HG01168.hp2 HG01169.hp1 others(28): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(7): Show | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0073others(28): Show | 31 | 380 | 0.0816 | 6 | c.777 others(21): Show |
ACOX3 | ENSG00000087008.16 | transcript | ENST00000356406.10 | protein_coding | 7/17 | chr4 | TogoVar |