| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AGBL1_chr15_86074871_86921156 | 86625376 | TTTGTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG03239.hp1 others(1): Show |
a0001a0002a0022 | a0001c0001a0001c0004a0002c0005others(1): Show | a0001c0001t0047a0001c0004t0001a0002c0005t0006others(1): Show | a0001c0001t0047g0014a0001c0004t0001g0120a0002c0005t0006g0103others(1): Show | 4 | 132 | 0.0303 | -9 | c.299 others(30): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AGBL1_chr15_86074871_86921156 | 86774584 | AGCTCTCA others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02486.hp2 HG03017.hp1 others(5): Show |
a0001a0002a0009 | a0001c0006a0001c0008a0001c0057others(3): Show | a0001c0006t0007a0001c0008t0002a0001c0008t0053others(5): Show | a0001c0006t0007g0018a0001c0008t0002g0034a0001c0008t0053g0042others(5): Show | 8 | 132 | 0.0606 | -9 | c.315 others(32): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| AGBL3_chr7_134981508_135140778 | 135014197 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(119): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(114): Show | 122 | 320 | 0.3813 | -9 | c.311 others(26): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AGBL4_chr1_48527854_50028954 | 48601117 | ATGATAAT others(2): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02970.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0004a0003c0005t0008 | a0001c0001t0004g0065a0003c0005t0008g0046 | 2 | 104 | 0.0192 | -9 | c.952 others(28): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 9/13 | chr1 | TogoVar | ||||||
| AGBL4_chr1_48527854_50028954 | 48752870 | CTCCTGAG others(2): Show |
C | intron_variant | MODIFIER | HG02976.hp1 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0062a0001c0004t0003g0064 | 2 | 104 | 0.0192 | -9 | c.635 others(28): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 6/13 | chr1 | TogoVar | ||||||
| AGBL4_chr1_48527854_50028954 | 48779704 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00639.hp2 others(70): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0012others(70): Show | 73 | 104 | 0.7019 | -9 | c.634 others(28): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 6/13 | chr1 | TogoVar | ||||||
| AGBL4_chr1_48527854_50028954 | 49588942 | ATGGGTGA others(2): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01167.hp2 HG01243.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0040others(22): Show | 25 | 104 | 0.2404 | -9 | c.282 others(30): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
| AGGF1_chr5_77025404_77070234 | 77050306 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(83): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0014a0002c0003t0015others(3): Show | a0002c0003t0002g0001a0002c0003t0002g0003a0002c0003t0002g0005others(64): Show | 86 | 438 | 0.1964 | -9 | c.136 others(28): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AGMO_chr7_15195317_15567015 | 15360648 | GGAGGTGG others(2): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG02976.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001 | a0001c0001t0002g0023a0001c0001t0002g0088a0001c0003t0001g0190 | 3 | 236 | 0.0127 | -9 | c.126 others(28): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15375386 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01884.hp1 HG02451.hp1 others(7): Show |
a0001a0003a0015 | a0001c0001a0003c0006a0015c0020 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0028a0001c0001t0001g0071a0001c0001t0001g0073others(7): Show | 10 | 236 | 0.0424 | -9 | c.107 others(28): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 10/12 | chr7 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15495833 | TCTCTCTC others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(107): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0005a0003c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0028others(107): Show | 110 | 236 | 0.4661 | -9 | c.409 others(28): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15530989 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 |
a0002a0014 | a0002c0002a0014c0014 | a0002c0002t0004a0014c0014t0001 | a0002c0002t0004g0024a0014c0014t0001g0180 | 2 | 236 | 0.0085 | -9 | c.409 others(28): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15531128 | CTGTATAT others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02723.hp1 HG02809.hp1 others(3): Show |
a0001a0002a0010 | a0001c0001a0002c0019a0010c0021 | a0001c0001t0001a0001c0001t0003a0002c0019t0001others(1): Show | a0001c0001t0001g0044a0001c0001t0001g0064a0001c0001t0001g0065others(3): Show | 6 | 236 | 0.0254 | -9 | c.409 others(28): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15531141 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(142): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0019a0001c0001t0001g0026a0001c0001t0001g0028others(142): Show | 145 | 236 | 0.6144 | -9 | c.409 others(28): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15531347 | CTATATAT others(2): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02717.hp1 HG02922.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0009others(1): Show | a0001c0001t0004a0001c0001t0005a0002c0002t0001others(2): Show | a0001c0001t0004g0031a0001c0001t0005g0199a0001c0001t0005g0200others(5): Show | 8 | 236 | 0.0339 | -9 | c.409 others(28): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15531491 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG01515.hp2 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(6): Show | a0001c0001t0001g0052a0001c0001t0001g0064a0001c0001t0001g0065others(16): Show | 19 | 236 | 0.0805 | -9 | c.409 others(28): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15532711 | CTGGGTGC others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(157): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0019a0001c0001t0001g0026a0001c0001t0001g0027others(157): Show | 160 | 236 | 0.6780 | -9 | c.409 others(28): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
| AGMO_chr7_15195317_15567015 | 15551514 | TACACCAA others(2): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG01243.hp2 others(17): Show |
a0001a0010 | a0001c0001a0010c0021 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0044a0001c0001t0001g0052a0001c0001t0001g0058others(17): Show | 20 | 236 | 0.0848 | -9 | c.258 others(26): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
| AGO1_chr1_35878209_35935532 | 35879734 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01074.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0017a0001c0001t0019others(3): Show | a0001c0001t0005g0005a0001c0001t0005g0037a0001c0001t0005g0038others(8): Show | 13 | 278 | 0.0468 | -9 | c.-36 others(20): Show |
AGO1 | ENSG00000092847.14 | transcript | ENST00000373204.6 | protein_coding | 3474 | chr1 | TogoVar | ||||||
| AGO2_chr8_140515156_140640633 | 140610028 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00642.hp1 others(67): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(41): Show | a0001c0001t0001g0008a0001c0001t0001g0068a0001c0001t0001g0069others(67): Show | 70 | 338 | 0.2071 | -9 | c.23- others(26): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
| AGO3_chr1_35926105_36077500 | 36003710 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG03017.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0025 | a0001c0001t0005g0016a0001c0001t0005g0017a0001c0001t0005g0020others(2): Show | 5 | 258 | 0.0194 | -9 | c.659 others(24): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 5/18 | chr1 | TogoVar | ||||||
| AGPAT3_chr21_43860223_43992592 | 43918065 | GGTTGTGG others(2): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp2 HG03486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0051a0001c0001t0057others(2): Show | a0001c0001t0006g0205a0001c0001t0051g0207a0001c0001t0057g0208others(2): Show | 5 | 342 | 0.0146 | -9 | c.-49 others(28): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| AGPAT4_chr6_161124967_161279061 | 161205737 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0016a0001c0001t0025g0249 | 2 | 264 | 0.0076 | -9 | c.178 others(28): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
| AGPAT4_chr6_161124967_161279061 | 161217882 | GGTTTGTT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(161): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(60): Show | a0001c0001t0001g0019a0001c0001t0001g0071a0001c0001t0001g0078others(160): Show | 164 | 264 | 0.6212 | -9 | c.178 others(28): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
| AGPS_chr2_177387773_177548834 | 177502376 | CAGATTAC others(2): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02630.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0020a0001c0001t0014g0021a0001c0001t0014g0022 | 3 | 258 | 0.0116 | -9 | c.147 others(28): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AGPS_chr2_177387773_177548834 | 177520524 | CTGTTTAC others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(69): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0002g0023a0001c0001t0002g0024a0001c0001t0002g0025others(69): Show | 72 | 258 | 0.2791 | -9 | c.169 others(26): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AGPS_chr2_177387773_177548834 | 177534835 | ATGATCTT others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(225): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0092a0001c0001t0001g0094a0001c0001t0001g0095others(225): Show | 228 | 258 | 0.8837 | -9 | c.185 others(28): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 19/19 | chr2 | TogoVar | ||||||
| AGR2_chr7_16786811_16809999 | 16808429 | TTGAATCA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0206a0001c0001t0003g0030a0001c0001t0012g0067 | 4 | 460 | 0.0087 | -9 | c.-35 others(20): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 3431 | chr7 | TogoVar | ||||||
| AGTPBP1_chr9_85541539_85746954 | 85689898 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG02280.hp2 HG02486.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0002a0005c0006t0001 | a0001c0001t0001g0002a0001c0001t0001g0056a0001c0001t0001g0067others(4): Show | 7 | 302 | 0.0232 | -9 | c.157 others(26): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | ||||||
| AGTPBP1_chr9_85541539_85746954 | 85705347 | TAAGTATG others(2): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01261.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0014 | a0001c0001t0003a0001c0001t0006a0003c0014t0006 | a0001c0001t0003g0296a0001c0001t0003g0297a0001c0001t0006g0298others(1): Show | 4 | 302 | 0.0133 | -9 | c.32+ others(24): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 2/25 | chr9 | TogoVar | ||||||
| AGTPBP1_chr9_85541539_85746954 | 85724802 | CTCCCAAG others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01891.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0285a0001c0002t0003g0286a0001c0002t0003g0287others(5): Show | 8 | 302 | 0.0265 | -9 | c.-33 others(28): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 1/25 | chr9 | TogoVar | ||||||
| AGTR1_chr3_148692903_148748003 | 148707614 | GACATTTC others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG00642.hp1 others(172): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0009a0001c0001t0001g0031a0001c0001t0001g0042others(123): Show | 175 | 350 | 0.5000 | -9 | c.-13 others(26): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| AGXT_chr2_240863824_240885500 | 240869408 | AGGCCTCC others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(91): Show |
a0001a0008a0013others(3): Show | a0001c0001a0008c0009a0013c0017others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0036a0001c0001t0001g0061a0001c0001t0002g0002others(32): Show | 94 | 444 | 0.2117 | -9 | c.358 others(22): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| AHCTF1_chr1_246834098_246936948 | 246834949 | ATTTTTTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp2 HG02055.hp2 HG02258.hp2 others(21): Show |
a0003a0004a0006others(1): Show | a0003c0003a0004c0005a0004c0021others(4): Show | a0003c0003t0001a0004c0005t0005a0004c0005t0006others(5): Show | a0003c0003t0001g0168a0003c0003t0001g0224a0003c0003t0001g0280others(21): Show | 24 | 376 | 0.0638 | -9 | c.*58 others(20): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4148 | chr1 | TogoVar | ||||||
| AHCTF1_chr1_246834098_246936948 | 246838898 | TTACTACT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01175.hp2 others(19): Show |
a0001a0002a0009others(2): Show | a0001c0004a0002c0008a0009c0034others(3): Show | a0001c0004t0002a0001c0004t0012a0001c0004t0015others(5): Show | a0001c0004t0002g0021a0001c0004t0002g0022a0001c0004t0002g0023others(19): Show | 22 | 376 | 0.0585 | -9 | c.*18 others(20): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 199 | chr1 | TogoVar | ||||||
| AHCYL1_chr1_109979765_110028742 | 109982435 | TAAAAAAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG01169.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0028others(6): Show | 10 | 350 | 0.0286 | -9 | c.-26 others(20): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 2329 | chr1 | TogoVar | ||||||
| AHI1_chr6_135278532_135502740 | 135293397 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02630.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0015others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0013others(4): Show | a0001c0001t0002g0011a0001c0001t0002g0199a0001c0001t0002g0200others(12): Show | 15 | 220 | 0.0682 | -9 | c.348 others(28): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | ||||||
| AHI1_chr6_135278532_135502740 | 135376881 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG02809.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0052a0001c0001t0001g0090a0001c0001t0002g0096others(5): Show | 8 | 220 | 0.0364 | -9 | c.310 others(30): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
| AHNAK_chr11_62510902_62551806 | 62549155 | TGAATGTC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02647.hp1 HG03098.hp2 |
a0014 | a0014c0023 | a0014c0023t0001 | a0014c0023t0001g0028 | 2 | 186 | 0.0108 | -9 | c.-26 others(20): Show |
AHNAK | ENSG00000124942.14 | transcript | ENST00000378024.9 | protein_coding | 2350 | chr11 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 318648 | TGGGGAAC others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp2 HG02965.hp1 HG03195.hp1 |
a0001a0004a0012 | a0001c0001a0004c0003a0012c0018 | a0001c0001t0017a0004c0003t0007a0012c0018t0017 | a0001c0001t0017g0264a0004c0003t0007g0266a0012c0018t0017g0265 | 3 | 268 | 0.0112 | -9 | c.-31 others(20): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3065 | chr5 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 328255 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02109.hp2 others(26): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0003others(3): Show | a0001c0001t0032a0002c0002t0007a0004c0003t0007others(15): Show | a0001c0001t0032g0227a0002c0002t0007g0028a0004c0003t0007g0221others(26): Show | 29 | 268 | 0.1082 | -9 | c.-11 others(26): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| AHRR_chr5_316714_443285 | 441497 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG00738.hp2 others(15): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0003c0004t0004a0003c0004t0028others(1): Show | a0002c0002t0001g0193a0003c0004t0004g0002a0003c0004t0004g0004others(14): Show | 18 | 268 | 0.0672 | -9 | c.*66 others(20): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 441954 | CTTTGGCA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp1 others(23): Show |
a0003 | a0003c0004 | a0003c0004t0004a0003c0004t0012a0003c0004t0028others(2): Show | a0003c0004t0004g0002a0003c0004t0004g0003a0003c0004t0004g0004others(21): Show | 26 | 268 | 0.0970 | -9 | c.*71 others(20): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3670 | chr5 | TogoVar | ||||||
| AHRR_chr5_316714_443285 | 443229 | GGGCGGCG others(2): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02486.hp1 HG02886.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0059others(2): Show | a0001c0001t0001g0152a0001c0001t0001g0156a0001c0001t0001g0256others(4): Show | 7 | 268 | 0.0261 | -9 | c.*83 others(20): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4945 | chr5 | TogoVar | ||||||
| AICDA_chr12_8597170_8617859 | 8599722 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02615.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0003a0001c0001t0008a0001c0001t0016others(4): Show | a0001c0001t0003g0103a0001c0001t0008g0076a0001c0001t0008g0108others(9): Show | 14 | 458 | 0.0306 | -9 | c.*45 others(20): Show |
AICDA | ENSG00000111732.12 | transcript | ENST00000229335.11 | protein_coding | 2447 | chr12 | TogoVar | ||||||
| AIF1L_chr9_131091531_131128144 | 131124002 | ATATATTT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01175.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0014a0001c0001t0002g0015a0001c0001t0002g0016others(21): Show | 29 | 424 | 0.0684 | -9 | c.*36 others(20): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 859 | chr9 | TogoVar | ||||||
| AIF1_chr6_31610234_31622015 | 31611071 | GAGTCTGC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01123.hp1 HG01168.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 8 | 437 | 0.0183 | -9 | c.-42 others(20): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 4162 | chr6 | TogoVar | ||||||
| AIG1_chr6_143055889_143346058 | 143213508 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp2 NA18954.hp1 NA18970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0119a0001c0001t0001g0120a0001c0001t0002g0134others(2): Show | 5 | 204 | 0.0245 | -9 | c.399 others(28): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| AIG1_chr6_143055889_143346058 | 143331846 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG02818.hp1 HG03453.hp2 NA19006.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0003 | a0001c0001t0003g0112a0001c0001t0003g0182a0001c0001t0004g0067others(1): Show | 4 | 204 | 0.0196 | -9 | c.516 others(26): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| AIMP2_chr7_6004272_6028834 | 6007087 | CATTATTA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0325a0001c0001t0002g0326a0001c0001t0002g0336 | 3 | 442 | 0.0068 | -9 | c.-22 others(20): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 2184 | chr7 | TogoVar |