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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALG2_chr9_99211425_99226942 | 99220674 | A | AAAGAAGT | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01256.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(3): Show | a0001c0001t0001g0025a0001c0001t0002g0007a0002c0003t0001g0005others(4): Show | 18 | 376 | 0.0479 | 7 | c.348 others(22): Show |
ALG2 | ENSG00000119523.10 | transcript | ENST00000476832.2 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63387532 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01358.hp1 HG02165.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0024a0001c0001t0002g0025a0001c0001t0002g0063others(6): Show | 9 | 388 | 0.0232 | 7 | c.83- others(22): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63422322 | A | ATATAAAT | intron_variant | MODIFIER | HG01192.hp1 HG01891.hp2 HG02280.hp2 others(12): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0009a0001c0003t0010a0001c0003t0012others(3): Show | a0001c0003t0009g0192a0001c0003t0009g0193a0001c0003t0009g0194others(12): Show | 15 | 388 | 0.0387 | 7 | c.105 others(26): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 12/14 | chr1 | TogoVar | ||||||
ALG9_chr11_111777195_111876581 | 111780394 | G | GTTTTGTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00558.hp2 others(68): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0008a0001c0001t0014others(3): Show | a0001c0001t0003g0010a0001c0001t0003g0013a0001c0001t0003g0210others(67): Show | 71 | 314 | 0.2261 | 7 | c.*60 others(18): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 1800 | chr11 | TogoVar | ||||||
ALG9_chr11_111777195_111876581 | 111780405 | T | TGTTTTTC | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0231a0001c0001t0007g0244a0001c0001t0007g0263 | 3 | 314 | 0.0096 | 7 | c.*59 others(18): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 1789 | chr11 | TogoVar | ||||||
ALG9_chr11_111777195_111876581 | 111812915 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(70): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0006a0001c0010others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(11): Show | a0001c0001t0002g0002a0001c0001t0002g0008a0001c0001t0002g0009others(66): Show | 73 | 314 | 0.2325 | 7 | c.160 others(26): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 13/14 | chr11 | TogoVar | ||||||
ALKBH1_chr14_77667404_77713023 | 77678208 | T | TTATGAGG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00733.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0016a0001c0001t0005g0030a0001c0001t0005g0271 | 6 | 360 | 0.0167 | 7 | c.546 others(24): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 4/5 | chr14 | TogoVar | ||||||
ALKBH5_chr17_18178828_18214954 | 18201786 | G | GATAGATA | intron_variant | MODIFIER | HG01346.hp1 HG02970.hp1 NA18951.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0254a0001c0001t0002g0139a0001c0001t0002g0184others(1): Show | 4 | 418 | 0.0096 | 7 | c.852 others(24): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
ALKBH5_chr17_18178828_18214954 | 18201786 | G | GATAGGTA | intron_variant | MODIFIER | HG00558.hp1 HG01993.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0300a0001c0001t0002g0173a0001c0001t0002g0191others(2): Show | 5 | 418 | 0.0120 | 7 | c.852 others(24): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29203485 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01884.hp1 HG01891.hp2 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0020a0002c0011a0002c0028others(5): Show | a0001c0020t0005a0002c0011t0001a0002c0028t0001others(5): Show | a0001c0020t0005g0005a0002c0011t0001g0042a0002c0028t0001g0014others(5): Show | 8 | 80 | 0.1000 | 7 | c.393 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 26/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29396836 | G | GTTTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02486.hp1 others(3): Show |
a0001a0003 | a0001c0009a0001c0027a0001c0035others(3): Show | a0001c0009t0005a0001c0027t0001a0001c0035t0001others(3): Show | a0001c0009t0005g0018a0001c0027t0001g0013a0001c0035t0001g0068others(3): Show | 6 | 80 | 0.0750 | 7 | c.115 others(28): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 4/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29583035 | G | GTTTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02451.hp1 others(6): Show |
a0001a0002a0004 | a0001c0004a0001c0009a0001c0039others(6): Show | a0001c0004t0001a0001c0009t0005a0001c0039t0013others(6): Show | a0001c0004t0001g0021a0001c0009t0005g0018a0001c0039t0013g0079others(6): Show | 9 | 80 | 0.1125 | 7 | c.953 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29583042 | G | GTTTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG02055.hp2 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0009a0001c0023a0001c0025others(7): Show | a0001c0009t0005a0001c0023t0010a0001c0025t0011others(7): Show | a0001c0009t0005g0054a0001c0023t0010g0076a0001c0025t0011g0074others(8): Show | 11 | 80 | 0.1375 | 7 | c.953 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29637709 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00738.hp1 others(30): Show |
a0001a0002a0003others(3): Show | a0001c0016a0001c0023a0001c0025others(24): Show | a0001c0016t0007a0001c0023t0010a0001c0025t0011others(24): Show | a0001c0016t0007g0004a0001c0023t0010g0076a0001c0025t0011g0074others(30): Show | 33 | 80 | 0.4125 | 7 | c.952 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29725154 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(32): Show |
a0001a0002a0003others(3): Show | a0001c0004a0001c0006a0001c0009others(26): Show | a0001c0004t0001a0001c0006t0001a0001c0009t0005others(26): Show | a0001c0004t0001g0021a0001c0006t0001g0026a0001c0009t0005g0054others(32): Show | 35 | 80 | 0.4375 | 7 | c.668 others(24): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29888246 | G | GTTTTTTT | intron_variant | MODIFIER | HG00738.hp2 HG01123.hp2 HG02451.hp1 others(2): Show |
a0001a0002a0003 | a0001c0006a0001c0058a0002c0008others(2): Show | a0001c0006t0001a0001c0058t0001a0002c0008t0001others(2): Show | a0001c0006t0001g0026a0001c0058t0001g0024a0002c0008t0001g0049others(2): Show | 5 | 80 | 0.0625 | 7 | c.667 others(26): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3690348 | T | TCCCCTCC | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00642.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0038a0002c0002t0001g0066a0002c0002t0001g0085others(23): Show | 26 | 274 | 0.0949 | 7 | c.512 others(24): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3690363 | C | CCTCCCCT | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02257.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0021a0003c0003t0002g0029a0003c0003t0002g0031others(3): Show | 6 | 274 | 0.0219 | 7 | c.512 others(24): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | chr2 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73404899 | C | CTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01261.hp2 HG01433.hp2 others(9): Show |
a0004a0005a0009others(4): Show | a0004c0003a0005c0005a0009c0013others(4): Show | a0004c0003t0002a0005c0005t0001a0009c0013t0001others(4): Show | a0004c0003t0002g0071a0005c0005t0001g0107a0005c0005t0001g0108others(9): Show | 12 | 248 | 0.0484 | 7 | c.325 others(24): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73458033 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01109.hp2 others(41): Show |
a0001a0002a0004others(14): Show | a0001c0001a0002c0020a0004c0003others(15): Show | a0001c0001t0001a0002c0020t0001a0004c0003t0002others(16): Show | a0001c0001t0001g0218a0002c0020t0001g0207a0002c0020t0001g0208others(41): Show | 44 | 248 | 0.1774 | 7 | c.767 others(26): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73471493 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02486.hp2 others(3): Show |
a0002a0004a0017others(1): Show | a0002c0004a0004c0003a0017c0017others(1): Show | a0002c0004t0001a0004c0003t0002a0017c0017t0003others(1): Show | a0002c0004t0001g0005a0002c0004t0001g0051a0002c0004t0001g0052others(3): Show | 6 | 248 | 0.0242 | 7 | c.767 others(28): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 9/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73585726 | C | CTTTTTTT | intron_variant | MODIFIER | HG01256.hp2 HG01361.hp1 HG01361.hp2 others(4): Show |
a0004a0012a0014others(2): Show | a0004c0003a0004c0043a0012c0012others(3): Show | a0004c0003t0002a0004c0043t0002a0012c0012t0001others(3): Show | a0004c0003t0002g0069a0004c0043t0002g0082a0012c0012t0001g0202others(4): Show | 7 | 248 | 0.0282 | 7 | c.115 others(30): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALOX12_chr17_6991049_7015754 | 7006059 | C | CGGGGGGG | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01168.hp2 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003a0002c0002t0005 | a0002c0002t0001g0006a0002c0002t0001g0063a0002c0002t0001g0087others(3): Show | 12 | 404 | 0.0297 | 7 | c.141 others(22): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8040652 | A | AAAGAAAG | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(23): Show |
a0001a0002a0014 | a0001c0005a0002c0002a0002c0003others(1): Show | a0001c0005t0002a0001c0005t0004a0001c0005t0008others(4): Show | a0001c0005t0002g0030a0001c0005t0004g0002a0001c0005t0008g0002others(10): Show | 26 | 470 | 0.0553 | 7 | c.449 others(22): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8052737 | T | TAGATAGA | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02129.hp1 HG02145.hp1 others(22): Show |
a0001a0003a0016others(1): Show | a0001c0008a0001c0014a0003c0004others(2): Show | a0001c0008t0001a0001c0014t0001a0003c0004t0001others(4): Show | a0001c0008t0001g0241a0001c0014t0001g0082a0003c0004t0001g0076others(21): Show | 25 | 470 | 0.0532 | 7 | c.*41 others(18): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3604 | chr17 | TogoVar | ||||||
ALPG_chr2_232401844_232415714 | 232411113 | G | GGAGGGTA | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02895.hp2 HG03453.hp1 others(1): Show |
a0008 | a0008c0010 | a0008c0010t0005 | a0008c0010t0005g0009 | 4 | 434 | 0.0092 | 7 | c.*12 others(18): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 400 | chr2 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112314366 | G | GTTGGATT | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00642.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0023a0001c0001t0001g0089a0001c0001t0001g0090others(34): Show | 38 | 306 | 0.1242 | 7 | c.-15 others(26): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK2_chr18_58476247_58634091 | 58479164 | A | ATATTTTT | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(18): Show |
a0002a0003a0004others(11): Show | a0002c0002a0002c0014a0003c0003others(12): Show | a0002c0002t0004a0002c0002t0007a0002c0014t0004others(13): Show | a0002c0002t0004g0121a0002c0002t0007g0061a0002c0002t0007g0075others(18): Show | 21 | 320 | 0.0656 | 7 | c.*26 others(18): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2082 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58521627 | C | CTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG02056.hp1 HG02809.hp1 others(11): Show |
a0008a0009a0017others(1): Show | a0008c0027a0008c0041a0009c0008others(4): Show | a0008c0027t0002a0008c0041t0003a0009c0008t0001others(9): Show | a0008c0027t0002g0022a0008c0027t0002g0074a0008c0041t0003g0135others(11): Show | 14 | 320 | 0.0438 | 7 | c.566 others(26): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 8/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58626804 | T | TTGTTTGA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(100): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0006a0001c0016others(36): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0003others(46): Show | a0001c0001t0001g0155a0001c0001t0001g0164a0001c0001t0001g0169others(100): Show | 103 | 320 | 0.3219 | 7 | c.-21 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84833988 | T | TGTGTGTG | intron_variant | MODIFIER | HG02738.hp1 NA18954.hp2 NA18984.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0012 | a0001c0001t0001a0001c0001t0005a0001c0002t0002others(1): Show | a0001c0001t0001g0128a0001c0001t0005g0127a0001c0002t0002g0229others(1): Show | 4 | 340 | 0.0118 | 7 | c.305 others(24): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 3/13 | chr15 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84853383 | T | TGGGTAGA | intron_variant | MODIFIER | HG01433.hp2 NA19002.hp1 NA19087.hp2 |
a0007 | a0007c0017a0007c0026 | a0007c0017t0025a0007c0026t0005 | a0007c0017t0025g0071a0007c0026t0005g0069a0007c0026t0005g0070 | 3 | 340 | 0.0088 | 7 | c.165 others(26): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALX3_chr1_110054870_110075672 | 110062645 | G | GTGTGTGT | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01175.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0029a0001c0001t0001g0047a0001c0001t0001g0052others(7): Show | 14 | 422 | 0.0332 | 7 | c.595 others(24): Show |
ALX3 | ENSG00000156150.9 | transcript | ENST00000647563.2 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
AMDHD1_chr12_95938331_95973720 | 95961144 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG01261.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0026a0001c0001t0001g0118a0001c0001t0001g0119others(15): Show | 18 | 404 | 0.0446 | 7 | c.813 others(22): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMDHD1_chr12_95938331_95973720 | 95964928 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01496.hp2 HG02015.hp1 others(7): Show |
a0001a0008 | a0001c0002a0008c0014 | a0001c0002t0003a0008c0014t0003 | a0001c0002t0003g0018a0001c0002t0003g0261a0001c0002t0003g0270others(5): Show | 10 | 404 | 0.0248 | 7 | c.939 others(22): Show |
AMDHD1 | ENSG00000139344.8 | transcript | ENST00000266736.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
AMELY_chrY_6860918_6916752 | 6907379 | C | CAAAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG01106.hp1 HG01109.hp1 others(42): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(31): Show | 45 | 131 | 0.3435 | 7 | c.-11 others(26): Show |
AMELY | ENSG00000099721.16 | transcript | ENST00000651267.2 | protein_coding | 1/6 | chrY | TogoVar | ||||||
AMER2_chr13_25156679_25177288 | 25174782 | T | TTCCTTCC | upstream_gene_variant | MODIFIER | HG02523.hp2 NA18981.hp2 NA19072.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0075 | a0001c0001t0001g0000a0001c0001t0009g0000a0001c0001t0075g0000 | 4 | 416 | 0.0096 | 7 | c.-31 others(18): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2495 | chr13 | TogoVar | ||||||
AMFR_chr16_56356452_56430545 | 56359469 | T | TAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01258.hp1 HG02015.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0056 | a0001c0001t0003g0243a0001c0001t0003g0255a0001c0001t0003g0267others(3): Show | 6 | 356 | 0.0169 | 7 | c.*34 others(18): Show |
AMFR | ENSG00000159461.15 | transcript | ENST00000290649.10 | protein_coding | 1982 | chr16 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31685800 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(297): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(265): Show | 300 | 432 | 0.6944 | 7 | c.703 others(24): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31685807 | A | AAAAAAAG | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00642.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0023others(29): Show | 42 | 432 | 0.0972 | 7 | c.703 others(24): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 6/6 | chr12 | TogoVar | ||||||
AMN1_chr12_31666142_31734021 | 31699395 | C | CAAAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01123.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026a0001c0001t0001g0032a0001c0001t0001g0327others(17): Show | 21 | 432 | 0.0486 | 7 | c.317 others(24): Show |
AMN1 | ENSG00000151743.11 | transcript | ENST00000281471.11 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38433724 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00597.hp1 others(59): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0049a0001c0001t0001g0056a0001c0001t0001g0057others(59): Show | 62 | 288 | 0.2153 | 7 | c.113 others(26): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 12/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38473710 | C | CAAAAAAA | intron_variant | MODIFIER | HG01256.hp2 HG01361.hp1 HG02602.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0112a0001c0001t0003g0037a0001c0002t0002g0066others(3): Show | 6 | 288 | 0.0208 | 7 | c.590 others(24): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/20 | chr7 | TogoVar | ||||||
AMPH_chr7_38378704_38636373 | 38540692 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00733.hp2 others(18): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0023a0001c0001t0001g0073a0001c0001t0001g0149others(18): Show | 21 | 288 | 0.0729 | 7 | c.70- others(22): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70515019 | A | AATATGGC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(148): Show |
a0001a0008a0009 | a0001c0001a0001c0002a0008c0012others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0022a0001c0001t0001g0029others(35): Show | 151 | 458 | 0.3297 | 7 | c.-36 others(18): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 3549 | chr4 | TogoVar | ||||||
AMTN_chr4_70513569_70537743 | 70519699 | T | TTTTTTTA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(218): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0002a0005c0006others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0014others(58): Show | 221 | 458 | 0.4825 | 7 | c.54+ others(20): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AMTN_chr4_70513569_70537743 | 70521640 | C | CTTTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp2 HG01943.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0010a0002c0003t0001g0010a0002c0003t0001g0079others(3): Show | 11 | 458 | 0.0240 | 7 | c.55- others(22): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AMZ1_chr7_2683202_2724683 | 2691730 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(111): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0004others(17): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(62): Show | a0001c0001t0001g0261a0001c0001t0001g0262a0001c0001t0001g0275others(111): Show | 114 | 438 | 0.2603 | 7 | c.-21 others(26): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ANAPC10_chr4_144989576_145103196 | 145026988 | T | TATATATA | intron_variant | MODIFIER | HG01261.hp1 HG03486.hp1 NA18983.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101a0001c0001t0001g0104a0001c0001t0001g0160 | 3 | 336 | 0.0089 | 7 | c.328 others(26): Show |
ANAPC10 | ENSG00000164162.14 | transcript | ENST00000507656.6 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
ANAPC1_chr2_111762640_111889193 | 111764893 | T | TATATATA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01070.hp2 others(16): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0014a0001c0004t0003a0001c0004t0017others(3): Show | a0001c0001t0014g0307a0001c0004t0003g0153a0001c0004t0003g0154others(16): Show | 19 | 370 | 0.0514 | 7 | c.*43 others(18): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 2746 | chr2 | TogoVar |