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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALG9_chr11_111777195_111876581 | 111871347 | C | T | splice_region_variant others(1): Show |
LOW | NA18978.hp1 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0011 | 1 | 314 | 0.0032 | 0 | c.131 others(5): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
ALKAL2_chr2_274558_293091 | 283180 | G | A | splice_region_variant others(1): Show |
LOW | HG02559.hp1 HG02572.hp2 HG02615.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0014a0001c0001t0001g0051a0001c0002t0001g0093others(1): Show | 6 | 416 | 0.0144 | 0 | c.389 others(5): Show |
ALKAL2 | ENSG00000189292.17 | transcript | ENST00000403610.9 | protein_coding | 4/5 | chr2 | TogoVar | ||||||
ALKBH1_chr14_77667404_77713023 | 77707818 | G | C | splice_region_variant others(1): Show |
LOW | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0274 | 1 | 360 | 0.0028 | 0 | c.183 others(5): Show |
ALKBH1 | ENSG00000100601.10 | transcript | ENST00000216489.8 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
ALKBH2_chr12_109083189_109098472 | 109088516 | C | T | splice_region_variant others(1): Show |
LOW | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 470 | 0.0021 | 0 | c.480 others(5): Show |
ALKBH2 | ENSG00000189046.11 | transcript | ENST00000429722.3 | protein_coding | 3/3 | chr12 | TogoVar | ||||||
ALKBH2_chr12_109083189_109098472 | 109090213 | C | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00544.hp2 HG01516.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0039 | 49 | 470 | 0.1043 | 0 | c.281 others(5): Show |
ALKBH2 | ENSG00000189046.11 | transcript | ENST00000429722.3 | protein_coding | 2/3 | chr12 | TogoVar | ||||||
ALKBH2_chr12_109083189_109098472 | 109092924 | TTTAAAAC others(24): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0035 | 1 | 470 | 0.0021 | -31 | c.-15 others(43): Show |
ALKBH2 | ENSG00000189046.11 | transcript | ENST00000429722.3 | protein_coding | 2/4 | 139 | chr12 | TogoVar | |||||
ALKBH3_chr11_43875831_43925274 | 43883086 | T | G | splice_region_variant others(1): Show |
LOW | HG01168.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0191 | 1 | 376 | 0.0027 | 0 | c.81T others(2): Show |
p.Ala others(5): Show |
ALKBH3 | ENSG00000166199.13 | transcript | ENST00000302708.9 | protein_coding | 3/10 | 500/1544 | 81/861 | 27/286 | chr11 | TogoVar | ||
ALKBH3_chr11_43875831_43925274 | 43883196 | C | G | splice_region_variant others(1): Show |
LOW | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 376 | 0.0027 | 0 | c.183 others(5): Show |
ALKBH3 | ENSG00000166199.13 | transcript | ENST00000302708.9 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
ALKBH3_chr11_43875831_43925274 | 43892127 | C | G | missense_variant others(1): Show |
MODERATE | HG02723.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0171 | 1 | 376 | 0.0027 | 0 | c.457 others(3): Show |
p.His others(6): Show |
ALKBH3 | ENSG00000166199.13 | transcript | ENST00000302708.9 | protein_coding | 7/10 | 876/1544 | 457/861 | 153/286 | chr11 | TogoVar | ||
ALKBH6_chr19_36004120_36019213 | 36009121 | A | T | splice_region_variant | LOW | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 392 | 0.0026 | 0 | c.*16 others(4): Show |
ALKBH6 | ENSG00000239382.11 | transcript | ENST00000378875.8 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
ALKBH6_chr19_36004120_36019213 | 36010886 | G | T | splice_region_variant others(1): Show |
LOW | HG01256.hp2 HG01258.hp2 HG02145.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 12 | 392 | 0.0306 | 0 | c.336 others(5): Show |
ALKBH6 | ENSG00000239382.11 | transcript | ENST00000378875.8 | protein_coding | 5/6 | chr19 | TogoVar | ||||||
ALKBH8_chr11_107497727_107570735 | 107511039 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00408.hp2 HG00639.hp2 others(94): Show |
a0001a0014a0016 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0009others(77): Show | 97 | 400 | 0.2425 | 0 | c.128 others(6): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 10/11 | chr11 | TogoVar | ||||||
ALKBH8_chr11_107497727_107570735 | 107551809 | T | G | missense_variant others(1): Show |
MODERATE | HG02818.hp1 HG02886.hp1 HG02922.hp1 others(1): Show |
a0010a0011a0012others(1): Show | a0010c0021a0011c0020a0012c0015others(1): Show | a0010c0021t0001a0011c0020t0009a0012c0015t0003others(1): Show | a0010c0021t0001g0205a0011c0020t0009g0318a0012c0015t0003g0199others(1): Show | 4 | 400 | 0.0100 | 0 | c.699 others(3): Show |
p.Gln others(6): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 6/12 | 840/4067 | 699/1995 | 233/664 | chr11 | TogoVar | ||
ALKBH8_chr11_107497727_107570735 | 107553983 | G | A | splice_region_variant others(1): Show |
LOW | HG02145.hp1 HG03098.hp2 NA20300.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0010 | a0001c0002t0003g0126a0001c0002t0003g0127a0001c0002t0010g0128 | 3 | 400 | 0.0075 | 0 | c.368 others(5): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 3/11 | chr11 | TogoVar | ||||||
ALKBH8_chr11_107497727_107570735 | 107557011 | A | G | splice_region_variant others(1): Show |
LOW | HG02818.hp1 HG02886.hp1 |
a0010a0011 | a0010c0021a0011c0020 | a0010c0021t0001a0011c0020t0009 | a0010c0021t0001g0205a0011c0020t0009g0318 | 2 | 400 | 0.0050 | 0 | c.130 others(5): Show |
ALKBH8 | ENSG00000137760.15 | transcript | ENST00000428149.7 | protein_coding | 2/11 | chr11 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29193928 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00738.hp2 HG01106.hp1 others(21): Show |
a0001a0002a0007 | a0001c0004a0001c0006a0001c0016others(16): Show | a0001c0004t0001a0001c0004t0008a0001c0006t0001others(18): Show | a0001c0004t0001g0021a0001c0004t0001g0037a0001c0004t0008g0003others(21): Show | 24 | 80 | 0.3000 | 0 | c.416 others(6): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 28/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29223336 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00738.hp1 HG01109.hp1 others(5): Show |
a0002a0006 | a0002c0001a0002c0014a0002c0018others(2): Show | a0002c0001t0001a0002c0014t0001a0002c0018t0001others(2): Show | a0002c0001t0001g0027a0002c0001t0001g0033a0002c0001t0001g0062others(5): Show | 8 | 80 | 0.1000 | 0 | c.335 others(6): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 20/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29275101 | G | A | missense_variant others(1): Show |
MODERATE | HG01433.hp2 | a0006 | a0006c0029 | a0006c0029t0001 | a0006c0029t0001g0016 | 1 | 80 | 0.0125 | 0 | c.203 others(4): Show |
p.Thr others(6): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 11/29 | 2966/6240 | 2039/4863 | 680/1620 | chr2 | TogoVar | ||
ALLC_chr2_3653200_3707671 | 3674047 | ATCTT | A | splice_region_variant others(1): Show |
LOW | HG00639.hp1 HG01081.hp1 HG01081.hp2 others(56): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0005others(11): Show | a0001c0001t0002a0002c0002t0002a0002c0005t0002others(11): Show | a0001c0001t0002g0019a0001c0001t0002g0118a0001c0001t0002g0143others(55): Show | 59 | 274 | 0.2153 | -4 | c.34- others(14): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3678462 | C | A | splice_region_variant others(1): Show |
LOW | HG02647.hp1 HG02818.hp1 HG02886.hp1 others(4): Show |
a0002 | a0002c0005a0002c0009 | a0002c0005t0001a0002c0005t0002a0002c0009t0002 | a0002c0005t0001g0234a0002c0005t0001g0235a0002c0005t0001g0236others(4): Show | 7 | 274 | 0.0256 | 0 | c.85- others(4): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 3/11 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3681626 | A | G | splice_region_variant others(1): Show |
LOW | NA19082.hp2 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0180 | 1 | 274 | 0.0037 | 0 | c.299 others(5): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 5/11 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3681628 | C | A | splice_region_variant others(1): Show |
LOW | NA19082.hp2 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0180 | 1 | 274 | 0.0037 | 0 | c.299 others(5): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 5/11 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3681636 | A | T | stop_gained others(1): Show |
HIGH | NA19082.hp2 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0180 | 1 | 274 | 0.0037 | 0 | c.301 others(3): Show |
p.Lys others(4): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 6/12 | 458/1441 | 301/1176 | 101/391 | chr2 | TogoVar | ||
ALLC_chr2_3653200_3707671 | 3681713 | G | T | missense_variant others(1): Show |
MODERATE | NA19082.hp2 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0180 | 1 | 274 | 0.0037 | 0 | c.378 others(3): Show |
p.Glu others(6): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 6/12 | 535/1441 | 378/1176 | 126/391 | chr2 | TogoVar | ||
ALLC_chr2_3653200_3707671 | 3681720 | C | T | splice_region_variant others(1): Show |
LOW | NA19082.hp2 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0180 | 1 | 274 | 0.0037 | 0 | c.378 others(5): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 6/11 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3681721 | T | G | splice_region_variant others(1): Show |
LOW | NA19082.hp2 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0180 | 1 | 274 | 0.0037 | 0 | c.378 others(5): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 6/11 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3702646 | ATTTAATA others(53): Show |
A | splice_region_variant | LOW | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0097 | 1 | 274 | 0.0037 | -60 | c.*84 others(68): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 12/12 | chr2 | TogoVar | ||||||
ALOX12B_chr17_8067636_8092716 | 8080651 | G | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(202): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(114): Show | 205 | 462 | 0.4437 | 0 | c.650 others(5): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 5/14 | chr17 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7006482 | G | C | splice_region_variant others(1): Show |
LOW | NA19086.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0066 | 1 | 404 | 0.0025 | 0 | c.141 others(6): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | chr17 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7006483 | C | A | splice_region_variant others(1): Show |
LOW | NA19086.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0066 | 1 | 404 | 0.0025 | 0 | c.141 others(6): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8044762 | GTGTCCCC others(40): Show |
G | splice_acceptor_variant others(2): Show |
HIGH | HG02738.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133a0001c0001t0001g0229 | 2 | 470 | 0.0043 | -47 | c.677 others(59): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8047076 | G | A | missense_variant others(1): Show |
MODERATE | HG01109.hp2 HG01167.hp2 HG01243.hp2 others(51): Show |
a0003a0005a0016others(1): Show | a0003c0004a0003c0028a0005c0009others(3): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0005others(5): Show | a0003c0004t0001g0061a0003c0004t0001g0076a0003c0004t0001g0150others(46): Show | 54 | 470 | 0.1149 | 0 | c.145 others(4): Show |
p.Arg others(6): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 10/14 | 1554/2697 | 1457/2031 | 486/676 | chr17 | TogoVar | ||
ALOX15_chr17_4625919_4646678 | 4638384 | A | C | splice_region_variant others(1): Show |
LOW | HG02145.hp1 HG02965.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0176a0001c0002t0001g0198a0001c0002t0002g0064 | 4 | 472 | 0.0085 | 0 | c.647 others(5): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 5/13 | chr17 | TogoVar | ||||||
ALOX15_chr17_4625919_4646678 | 4639422 | G | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(144): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0006a0002c0004others(5): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(8): Show | a0001c0002t0001g0020a0001c0002t0001g0029a0001c0002t0001g0053others(47): Show | 147 | 472 | 0.3114 | 0 | c.337 others(5): Show |
ALOX15 | ENSG00000161905.13 | transcript | ENST00000293761.8 | protein_coding | 2/13 | chr17 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45443652 | ATCCGGGC others(79): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18960.hp1 | a0007 | a0007c0017 | a0007c0017t0001 | a0007c0017t0001g0226 | 1 | 345 | 0.0029 | -86 | c.157 others(98): Show |
p.Phe others(5): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 12/14 | 1574/2025 | 525/674 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
ALOXE3_chr17_8090900_8123514 | 8110526 | C | T | splice_region_variant others(1): Show |
LOW | HG02622.hp2 | a0001 | a0001c0012 | a0001c0012t0003 | a0001c0012t0003g0412 | 1 | 422 | 0.0024 | 0 | c.960 others(3): Show |
p.Arg others(6): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 9/16 | 1302/3205 | 960/2136 | 320/711 | chr17 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232407053 | C | A | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(53): Show |
a0004a0012a0013others(1): Show | a0004c0004a0012c0020a0013c0027others(1): Show | a0004c0004t0002a0004c0004t0008a0012c0020t0002others(2): Show | a0004c0004t0002g0004a0004c0004t0002g0007a0004c0004t0002g0013others(5): Show | 56 | 434 | 0.1290 | 0 | c.68- others(4): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 1/10 | chr2 | TogoVar | ||||||
ALPG_chr2_232401844_232415714 | 232407172 | C | T | splice_region_variant others(1): Show |
LOW | NA18941.hp1 NA18947.hp2 NA18951.hp1 others(10): Show |
a0005 | a0005c0006 | a0005c0006t0001a0005c0006t0009 | a0005c0006t0001g0003a0005c0006t0009g0003 | 13 | 434 | 0.0300 | 0 | c.183 others(3): Show |
p.Asp others(5): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 2/11 | 234/2492 | 183/1599 | 61/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232408017 | T | C | splice_region_variant others(1): Show |
LOW | NA18997.hp2 | a0017 | a0017c0019 | a0017c0019t0001 | a0017c0019t0001g0026 | 1 | 434 | 0.0023 | 0 | c.648 others(3): Show |
p.Asp others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 5/11 | 699/2492 | 648/1599 | 216/532 | chr2 | TogoVar | ||
ALPG_chr2_232401844_232415714 | 232408497 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(72): Show |
a0003a0008a0009others(3): Show | a0003c0003a0003c0013a0003c0025others(5): Show | a0003c0003t0001a0003c0003t0003a0003c0013t0001others(6): Show | a0003c0003t0001g0002a0003c0003t0001g0024a0003c0003t0001g0027others(9): Show | 75 | 434 | 0.1728 | 0 | c.784 others(5): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 6/10 | chr2 | TogoVar | ||||||
ALPG_chr2_232401844_232415714 | 232408581 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00408.hp2 HG00423.hp1 others(67): Show |
a0003a0009a0011others(1): Show | a0003c0003a0003c0013a0003c0025others(3): Show | a0003c0003t0001a0003c0003t0003a0003c0013t0001others(4): Show | a0003c0003t0001g0002a0003c0003t0001g0024a0003c0003t0001g0027others(7): Show | 70 | 434 | 0.1613 | 0 | c.856 others(5): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 7/10 | chr2 | TogoVar | ||||||
ALPG_chr2_232401844_232415714 | 232409329 | C | A | splice_region_variant others(1): Show |
LOW | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 434 | 0.0023 | 0 | c.118 others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 9/10 | chr2 | TogoVar | ||||||
ALPG_chr2_232401844_232415714 | 232409447 | C | T | splice_region_variant others(1): Show |
LOW | HG02056.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0001 | 1 | 434 | 0.0023 | 0 | c.129 others(4): Show |
p.Ser others(6): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 10/11 | 1350/2492 | 1299/1599 | 433/532 | chr2 | TogoVar | ||
ALPI_chr2_232451153_232465753 | 232457707 | G | A | splice_region_variant others(1): Show |
LOW | HG01109.hp1 HG02622.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0002a0001c0016 | a0001c0002t0002a0001c0016t0002 | a0001c0002t0002g0007a0001c0016t0002g0007 | 5 | 446 | 0.0112 | 0 | c.783 others(5): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 6/10 | chr2 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112297474 | G | T | splice_region_variant others(1): Show |
LOW | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 306 | 0.0033 | 0 | c.-15 others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112426453 | C | CT | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(134): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0007others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(25): Show | a0001c0001t0001g0023a0001c0001t0001g0057a0001c0001t0001g0060others(133): Show | 137 | 306 | 0.4477 | 1 | c.623 others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ALPK1_chr4_112292369_112447621 | 112429259 | C | T | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00323.hp2 HG00642.hp1 others(54): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0008a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0011a0001c0001t0001g0046a0001c0001t0001g0089others(54): Show | 57 | 306 | 0.1863 | 0 | c.900 others(5): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 10/15 | chr4 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58515089 | G | A | splice_region_variant others(1): Show |
LOW | NA19066.hp1 | a0003 | a0003c0003 | a0003c0003t0016 | a0003c0003t0016g0261 | 1 | 320 | 0.0031 | 0 | c.594 others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 9/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58529087 | G | A | splice_region_variant others(1): Show |
LOW | HG02145.hp1 HG03486.hp2 HG03540.hp2 others(1): Show |
a0006a0021 | a0006c0039a0021c0033 | a0006c0039t0008a0021c0033t0008 | a0006c0039t0008g0120a0006c0039t0008g0283a0021c0033t0008g0160others(1): Show | 4 | 320 | 0.0125 | 0 | c.550 others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 6/12 | chr18 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58534827 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
a0001a0002a0003others(59): Show | a0001c0001a0001c0006a0001c0016others(90): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(160): Show | a0001c0001t0001g0122a0001c0001t0001g0155a0001c0001t0001g0164others(314): Show | 317 | 320 | 0.9906 | 0 | c.535 others(6): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/12 | chr18 | TogoVar |