| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ALPP_chr2_232373751_232387889 | 232380430 | A | ACGTGTAT others(43): Show |
frameshift_variant others(1): Show |
HIGH | NA18522.hp2 | a0023 | a0023c0033 | a0023c0033t0001 | a0023c0033t0001g0026 | 1 | 410 | 0.0024 | 50 | c.803 others(57): Show |
p.Trp others(5): Show |
ALPP | ENSG00000163283.7 | transcript | ENST00000392027.3 | protein_coding | 7/11 | 856/2754 | 804/1608 | 268/535 | chr2 | TogoVar | ||
| AMACR_chr5_33981165_34013050 | 34004636 | TGCCCAGT others(36): Show |
T | frameshift_variant | HIGH | HG03098.hp2 | a0017 | a0017c0019 | a0017c0019t0004 | a0017c0019t0004g0133 | 1 | 438 | 0.0023 | -43 | c.447 others(50): Show |
p.Ala others(5): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 3/5 | 520/4108 | 447/1149 | 149/382 | chr5 | TogoVar | ||
| AMBN_chr4_70587256_70612288 | 70606275 | GCTATGGG others(49): Show |
G | frameshift_variant | HIGH | NA18970.hp1 | a0019 | a0019c0028 | a0019c0028t0001 | a0019c0028t0001g0059 | 1 | 480 | 0.0021 | -56 | c.891 others(63): Show |
p.Met others(5): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 13/13 | 994/2005 | 891/1344 | 297/447 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
| AMBN_chr4_70587256_70612288 | 70606516 | G | GCGTCACC others(12): Show |
frameshift_variant others(1): Show |
HIGH | NA18959.hp2 | a0017 | a0017c0024 | a0017c0024t0001 | a0017c0024t0001g0009 | 1 | 480 | 0.0021 | 19 | c.113 others(28): Show |
p.Asp others(5): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 13/13 | 1253/2005 | 1150/1344 | 384/447 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
| AMBN_chr4_70587256_70612288 | 70606698 | ATGCATGA others(49): Show |
A | frameshift_variant others(1): Show |
HIGH | NA18946.hp1 | a0000 | a0000c0026 | a0000c0026t0013 | a0000c0026t0013g0186 | 1 | 480 | 0.0021 | -56 | c.131 others(64): Show |
p.Met others(5): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 13/13 | 1416/2005 | 1313/1344 | 438/447 | chr4 | TogoVar | ||
| AMELX_chrX_11288413_11305761 | 11298633 | A | ACACC | frameshift_variant | HIGH | NA19055.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0034 | 1 | 300 | 0.0033 | 4 | c.232 others(11): Show |
p.Leu others(4): Show |
AMELX | ENSG00000125363.14 | transcript | ENST00000380714.7 | protein_coding | 5/6 | 304/793 | 236/576 | 79/191 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| AMER1_chrX_64180117_64210708 | 64190050 | GC | G | frameshift_variant | HIGH | NA18994.hp1 | a0012 | a0012c0009 | a0012c0009t0070 | a0012c0009t0070g0087 | 1 | 243 | 0.0041 | -1 | c.323 others(5): Show |
p.Gly others(6): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 3473/8407 | 3236/3408 | 1079/1135 | chrX | TogoVar | ||
| AMER1_chrX_64180117_64210708 | 64190367 | AG | A | frameshift_variant | HIGH | NA18994.hp1 | a0012 | a0012c0009 | a0012c0009t0070 | a0012c0009t0070g0087 | 1 | 243 | 0.0041 | -1 | c.291 others(5): Show |
p.Trp others(5): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 3156/8407 | 2919/3408 | 973/1135 | chrX | TogoVar | ||
| AMER1_chrX_64180117_64210708 | 64190428 | TG | T | frameshift_variant | HIGH | NA18994.hp1 | a0012 | a0012c0009 | a0012c0009t0070 | a0012c0009t0070g0087 | 1 | 243 | 0.0041 | -1 | c.285 others(5): Show |
p.Pro others(5): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 3095/8407 | 2858/3408 | 953/1135 | chrX | TogoVar | ||
| AMER1_chrX_64180117_64210708 | 64190476 | T | TC | frameshift_variant | HIGH | NA18994.hp1 | a0012 | a0012c0009 | a0012c0009t0070 | a0012c0009t0070g0087 | 1 | 243 | 0.0041 | 1 | c.281 others(10): Show |
p.Gly others(5): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 3047/8407 | 2810/3408 | 937/1135 | chrX | TogoVar | ||
| AMER1_chrX_64180117_64210708 | 64190549 | TGGACCAA others(3): Show |
T | frameshift_variant | HIGH | NA18994.hp1 | a0012 | a0012c0009 | a0012c0009t0070 | a0012c0009t0070g0087 | 1 | 243 | 0.0041 | -10 | c.272 others(19): Show |
p.His others(5): Show |
AMER1 | ENSG00000184675.11 | transcript | ENST00000374869.8 | protein_coding | 2/2 | 2974/8407 | 2728/3408 | 910/1135 | chrX | TogoVar | ||
| AMER2_chr13_25156679_25177288 | 25171521 | C | CCCGGCCT others(7): Show |
frameshift_variant | HIGH | NA20129.hp2 | a0009 | a0009c0008 | a0009c0008t0015 | a0009c0008t0015g0000 | 1 | 416 | 0.0024 | 14 | c.85_ others(19): Show |
p.Ala others(4): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 1/1 | 767/10610 | 98/2016 | 33/671 | chr13 | TogoVar | ||
| AMOT_chrX_112769877_112845831 | 112791845 | AG | A | frameshift_variant | HIGH | NA18956.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0255 | 1 | 270 | 0.0037 | -1 | c.191 others(5): Show |
p.Leu others(5): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 9/14 | 2580/7613 | 1912/3255 | 638/1084 | chrX | TogoVar | ||
| AMOT_chrX_112769877_112845831 | 112791863 | T | TC | frameshift_variant | HIGH | NA18956.hp1 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0255 | 1 | 270 | 0.0037 | 1 | c.189 others(5): Show |
p.Glu others(5): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 9/14 | 2562/7613 | 1894/3255 | 632/1084 | chrX | TogoVar | ||
| ANK1_chr8_41648225_41802622 | 41717010 | G | GTGCCCGG others(13): Show |
frameshift_variant | HIGH | NA19076.hp1 | a0015 | a0015c0053 | a0015c0053t0002 | a0015c0053t0002g0263 | 1 | 278 | 0.0036 | 20 | c.132 others(29): Show |
p.His others(5): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 13/43 | 1430/8292 | 1346/5643 | 449/1880 | chr8 | TogoVar | ||
| ANKDD1B_chr5_75606453_75676846 | 75611679 | GGGGCTGC others(6): Show |
G | frameshift_variant | HIGH | HG02615.hp2 HG02723.hp2 HG03195.hp2 |
a0013 | a0013c0016a0013c0024 | a0013c0016t0001a0013c0024t0003 | a0013c0016t0001g0029a0013c0016t0001g0033a0013c0024t0003g0316 | 3 | 372 | 0.0081 | -13 | c.56_ others(18): Show |
p.Leu others(4): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 1/14 | 238/2575 | 56/1587 | 19/528 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| ANKDD1B_chr5_75606453_75676846 | 75635851 | CCCAGT | C | frameshift_variant | HIGH | HG00741.hp1 HG01106.hp2 HG01167.hp2 others(12): Show |
a0006a0015a0020 | a0006c0009a0006c0015a0006c0034others(3): Show | a0006c0009t0007a0006c0015t0001a0006c0034t0003others(3): Show | a0006c0009t0007g0141a0006c0009t0007g0207a0006c0009t0007g0209others(11): Show | 15 | 372 | 0.0403 | -5 | c.768 others(12): Show |
p.Gln others(5): Show |
ANKDD1B | ENSG00000189045.15 | transcript | ENST00000601380.4 | protein_coding | 7/14 | 950/2575 | 768/1587 | 256/528 | chr5 | TogoVar | ||
| ANKRD11_chr16_89262630_89495561 | 89279581 | C | CCGTGGGT others(13): Show |
frameshift_variant | HIGH | NA18953.hp1 | a0032 | a0032c0050 | a0032c0050t0001 | a0032c0050t0001g0067 | 1 | 310 | 0.0032 | 20 | c.694 others(29): Show |
p.Ala others(6): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 9/13 | 7421/9301 | 6960/7992 | 2320/2663 | chr16 | TogoVar | ||
| ANKRD24_chr19_4177689_4229814 | 4217491 | C | CG | frameshift_variant | HIGH | HG00597.hp2 HG00639.hp1 HG01243.hp1 others(15): Show |
a0007a0012a0015others(5): Show | a0007c0011a0007c0041a0007c0042others(7): Show | a0007c0011t0001a0007c0011t0002a0007c0041t0001others(10): Show | a0007c0011t0001g0016a0007c0011t0001g0035a0007c0011t0001g0065others(15): Show | 18 | 356 | 0.0506 | 1 | c.233 others(5): Show |
p.Gly others(5): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 18/22 | 2425/3838 | 2337/3441 | 779/1146 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| ANKRD30A_chr10_37120598_37237567 | 37167724 | C | CAGTATAT others(23571): Show |
frameshift_variant others(1): Show |
HIGH | NA18943.hp2 | a0026 | a0026c0043 | a0026c0043t0001 | a0026c0043t0001g0133 | 1 | 286 | 0.0035 | 23578 | c.221 others(23587): Show |
p.Thr others(5): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 21/36 | 2405/4664 | 2215/4194 | 739/1397 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| ANKRD30A_chr10_37120598_37237567 | 37167724 | C | CAGTATAT others(23577): Show |
frameshift_variant others(1): Show |
HIGH | NA19007.hp2 | a0012 | a0012c0014 | a0012c0014t0001 | a0012c0014t0001g0173 | 1 | 286 | 0.0035 | 23584 | c.221 others(23593): Show |
p.Thr others(5): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 21/36 | 2405/4664 | 2215/4194 | 739/1397 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| ANKRD30A_chr10_37120598_37237567 | 37167724 | C | CAGTATAT others(23577): Show |
frameshift_variant others(1): Show |
HIGH | HG02015.hp1 | a0012 | a0012c0014 | a0012c0014t0001 | a0012c0014t0001g0219 | 1 | 286 | 0.0035 | 23584 | c.221 others(23593): Show |
p.Thr others(5): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 21/36 | 2405/4664 | 2215/4194 | 739/1397 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| ANKRD30A_chr10_37120598_37237567 | 37167724 | C | CAGTATAT others(23578): Show |
frameshift_variant others(1): Show |
HIGH | HG02155.hp1 | a0012 | a0012c0014 | a0012c0014t0001 | a0012c0014t0001g0112 | 1 | 286 | 0.0035 | 23585 | c.221 others(23594): Show |
p.Thr others(5): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 21/36 | 2405/4664 | 2215/4194 | 739/1397 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| ANKRD30A_chr10_37120598_37237567 | 37231448 | GCAATCTT others(37): Show |
G | frameshift_variant others(2): Show |
HIGH | HG02280.hp1 | a0000 | a0000c0030 | a0000c0030t0009 | a0000c0030t0009g0125 | 1 | 286 | 0.0035 | -44 | c.418 others(55): Show |
p.Asn others(6): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 35/36 | 4186/4194 | 1396/1397 | chr10 | TogoVar | |||
| ANKRD30B_chr18_14743172_14859667 | 14814633 | G | GCTCTCTT others(10879): Show |
frameshift_variant others(1): Show |
HIGH | NA19082.hp2 | a0037 | a0037c0058 | a0037c0058t0002 | a0037c0058t0002g0044 | 1 | 316 | 0.0032 | 10886 | c.258 others(10895): Show |
p.Gly others(5): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 30/44 | 2830/5335 | 2582/4578 | 861/1525 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |
| ANKRD36_chr2_97108153_97269521 | 97211731 | ATC | A | frameshift_variant | HIGH | HG00423.hp1 HG02602.hp2 NA18945.hp1 others(2): Show |
a0011 | a0011c0011 | a0011c0011t0002 | a0011c0011t0002g0011a0011c0011t0002g0045a0011c0011t0002g0046others(2): Show | 5 | 212 | 0.0236 | -2 | c.346 others(11): Show |
p.Ser others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 58/76 | 4048/6534 | 3461/5748 | 1154/1915 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| ANKRD60_chr20_58211126_58233653 | 58228328 | ACTCGGAA others(3): Show |
A | frameshift_variant | HIGH | HG00642.hp2 | a0016 | a0016c0022 | a0016c0022t0005 | a0016c0022t0005g0192 | 1 | 458 | 0.0022 | -10 | c.316 others(17): Show |
p.Met others(5): Show |
ANKRD60 | ENSG00000124227.6 | transcript | ENST00000457363.2 | protein_coding | 1/4 | 325/3407 | 316/1038 | 106/345 | chr20 | TogoVar | ||
| ANKRD65_chr1_1413420_1426276 | 1420938 | A | ACCGCTCC others(3): Show |
frameshift_variant | HIGH | HG03139.hp1 | a0017 | a0017c0024 | a0017c0024t0002 | a0017c0024t0002g0024 | 1 | 148 | 0.0068 | 10 | c.67_ others(15): Show |
p.Leu others(4): Show |
ANKRD65 | ENSG00000235098.9 | transcript | ENST00000537107.6 | protein_coding | 2/4 | 211/2024 | 67/1200 | 23/399 | chr1 | TogoVar | ||
| ANKRD7_chr7_118219704_118247732 | 118224853 | G | GGAAGAGG others(31): Show |
frameshift_variant | HIGH | HG01256.hp2 | a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0004 | 1 | 406 | 0.0025 | 38 | c.24_ others(43): Show |
p.Leu others(4): Show |
ANKRD7 | ENSG00000106013.15 | transcript | ENST00000265224.9 | protein_coding | 1/7 | 189/1313 | 62/765 | 21/254 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| ANKRD7_chr7_118219704_118247732 | 118224885 | TACAACCT others(3): Show |
T | frameshift_variant | HIGH | NA18997.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0079 | 1 | 406 | 0.0025 | -10 | c.57_ others(15): Show |
p.Tyr others(4): Show |
ANKRD7 | ENSG00000106013.15 | transcript | ENST00000265224.9 | protein_coding | 1/7 | 184/1313 | 57/765 | 19/254 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
| ANO7_chr2_241183677_241230976 | 241218270 | TGCCGCGC others(81): Show |
T | frameshift_variant | HIGH | NA18994.hp1 | a0017 | a0017c0035 | a0017c0035t0002 | a0017c0035t0002g0343 | 1 | 396 | 0.0025 | -88 | c.221 others(97): Show |
p.Ala others(5): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 21/25 | 2315/4560 | 2218/2640 | 740/879 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| ANO7_chr2_241183677_241230976 | 241223950 | TCA | T | frameshift_variant | HIGH | HG01099.hp1 HG01884.hp2 HG01891.hp2 others(29): Show |
a0006a0009a0029 | a0006c0006a0006c0018a0009c0016others(3): Show | a0006c0006t0001a0006c0006t0003a0006c0006t0009others(9): Show | a0006c0006t0001g0007a0006c0006t0001g0106a0006c0006t0001g0261others(29): Show | 32 | 396 | 0.0808 | -2 | c.257 others(11): Show |
p.Ser others(5): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 24/25 | 2676/4560 | 2579/2640 | 860/879 | chr2 | TogoVar | ||
| ANO9_chr11_412938_447011 | 429613 | C | CG | frameshift_variant | HIGH | HG00323.hp2 HG00741.hp1 HG01169.hp1 others(6): Show |
a0006a0010a0014 | a0006c0009a0006c0019a0010c0014others(1): Show | a0006c0009t0001a0006c0019t0001a0010c0014t0001others(1): Show | a0006c0009t0001g0124a0006c0009t0001g0179a0006c0009t0001g0180others(6): Show | 9 | 286 | 0.0315 | 1 | c.871 others(4): Show |
p.Arg others(5): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 11/23 | 956/2867 | 871/2349 | 291/782 | chr11 | TogoVar | ||
| ANPEP_chr15_89779895_89819852 | 89785481 | GTCCTTCT others(10): Show |
G | frameshift_variant | HIGH | NA18954.hp2 | a0000 | a0000c0035 | a0000c0035t0002 | a0000c0035t0002g0180 | 1 | 404 | 0.0025 | -17 | c.275 others(26): Show |
p.Glu others(5): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 21/21 | 3075/3662 | 2755/2904 | 919/967 | chr15 | TogoVar | ||
| ANPEP_chr15_89779895_89819852 | 89806360 | C | CG | frameshift_variant | HIGH | HG00735.hp1 HG01255.hp2 HG02145.hp2 others(4): Show |
a0008 | a0008c0015a0008c0021a0008c0022others(2): Show | a0008c0015t0001a0008c0015t0002a0008c0021t0001others(3): Show | a0008c0015t0001g0039a0008c0015t0001g0065a0008c0015t0002g0087others(4): Show | 7 | 404 | 0.0173 | 1 | c.223 others(4): Show |
p.Arg others(4): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 2/21 | 527/3662 | 223/2904 | 75/967 | chr15 | TogoVar | ||
| ANTKMT_chr16_716146_727590 | 721792 | TGCCCACA others(10): Show |
T | frameshift_variant | HIGH | NA18994.hp2 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0012 | 1 | 392 | 0.0026 | -17 | c.272 others(24): Show |
p.Leu others(4): Show |
ANTKMT | ENSG00000103254.10 | transcript | ENST00000569529.6 | protein_coding | 3/5 | 401/870 | 272/708 | 91/235 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| AP1G2_chr14_23554567_23572791 | 23564142 | GATGTCAG others(11): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00609.hp2 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0094 | 1 | 396 | 0.0025 | -18 | c.978 others(27): Show |
p.Arg others(5): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 11/22 | 1052/2598 | 978/2358 | 326/785 | chr14 | TogoVar | ||
| AP1M2_chr19_10567671_10592312 | 10584037 | CCACATCG others(4): Show |
C | frameshift_variant | HIGH | HG00735.hp1 | a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0158 | 1 | 394 | 0.0025 | -11 | c.65_ others(16): Show |
p.Lys others(4): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2/12 | 156/1748 | 65/1272 | 22/423 | chr19 | TogoVar | ||
| AP2A2_chr11_920870_1017240 | 993808 | C | CACCCGCG others(18): Show |
frameshift_variant | HIGH | NA18994.hp1 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0262 | 1 | 268 | 0.0037 | 25 | c.160 others(34): Show |
p.Ile others(5): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 13/22 | 1785/4587 | 1633/2820 | 545/939 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| AP5B1_chr11_65768898_65785976 | 65779948 | ACAGGGCC others(9): Show |
A | frameshift_variant | HIGH | NA18955.hp1 | a0013 | a0013c0015 | a0013c0015t0027 | a0013c0015t0027g0030 | 1 | 424 | 0.0024 | -16 | c.529 others(23): Show |
p.Gly others(5): Show |
AP5B1 | ENSG00000254470.3 | transcript | ENST00000532090.3 | protein_coding | 2/2 | 929/6980 | 529/2637 | 177/878 | chr11 | TogoVar | ||
| APEX2_chrX_54995363_55014057 | 55003813 | T | TG | frameshift_variant | HIGH | NA19077.hp2 | a0004 | a0004c0015 | a0004c0015t0001 | a0004c0015t0001g0001 | 1 | 303 | 0.0033 | 1 | c.587 others(4): Show |
p.Asp others(5): Show |
APEX2 | ENSG00000169188.5 | transcript | ENST00000374987.4 | protein_coding | 5/6 | 648/3239 | 588/1557 | 196/518 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| API5_chr11_43306996_43349529 | 43335212 | C | CCCTCACC others(96): Show |
frameshift_variant others(1): Show |
HIGH | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 384 | 0.0026 | 103 | c.127 others(115): Show |
p.Thr others(5): Show |
API5 | ENSG00000166181.13 | transcript | ENST00000531273.6 | protein_coding | 12/14 | 1449/3726 | 1317/1575 | 439/524 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| APLN_chrX_129640259_129659956 | 129648629 | GA | G | frameshift_variant | HIGH | NA18968.hp2 | a0000 | a0000c0002 | a0000c0002t0015 | a0000c0002t0015g0037 | 1 | 317 | 0.0032 | -1 | c.230 others(4): Show |
p.Phe others(4): Show |
APLN | ENSG00000171388.12 | transcript | ENST00000429967.3 | protein_coding | 2/3 | 556/3224 | 230/234 | 77/77 | chrX | TogoVar | ||
| APOBEC3B_chr22_38977347_38997779 | 38991390 | TG | T | frameshift_variant | HIGH | HG02145.hp2 HG02647.hp1 HG02896.hp1 others(3): Show |
a0007 | a0007c0012a0007c0013 | a0007c0012t0001a0007c0013t0001 | a0007c0012t0001g0007a0007c0013t0001g0007 | 6 | 354 | 0.0170 | -1 | c.784 others(4): Show |
p.Val others(5): Show |
APOBEC3B | ENSG00000179750.16 | transcript | ENST00000333467.4 | protein_coding | 6/8 | 891/1590 | 784/1149 | 262/382 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
| APOBR_chr16_28489643_28503964 | 28496129 | CCGGGACA others(19): Show |
C | frameshift_variant | HIGH | NA19082.hp1 | a0022 | a0022c0059 | a0022c0059t0001 | a0022c0059t0001g0001 | 1 | 406 | 0.0025 | -26 | c.109 others(35): Show |
p.Gly others(5): Show |
APOBR | ENSG00000184730.12 | transcript | ENST00000564831.6 | protein_coding | 2/4 | 1129/3792 | 1090/3294 | 364/1097 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| APOL4_chr22_36184128_36206809 | 36191797 | ACT | A | frameshift_variant | HIGH | HG00140.hp1 HG00323.hp2 HG00621.hp2 others(126): Show |
a0002 | a0002c0002a0002c0003a0002c0005others(2): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0029others(13): Show | a0002c0002t0002g0007a0002c0002t0002g0009a0002c0002t0002g0011others(74): Show | 129 | 434 | 0.2972 | -2 | c.323 others(9): Show |
p.Glu others(5): Show |
APOL4 | ENSG00000100336.18 | transcript | ENST00000683024.1 | protein_coding | 4/4 | 399/3069 | 323/1047 | 108/348 | chr22 | TogoVar | ||
| APOL5_chr22_35712872_35734483 | 35726647 | AAGCAATT others(7): Show |
A | frameshift_variant | HIGH | NA19075.hp1 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0001 | 1 | 401 | 0.0025 | -14 | c.581 others(21): Show |
p.Ser others(5): Show |
APOL5 | ENSG00000128313.2 | transcript | ENST00000249044.2 | protein_coding | 3/5 | 581/1438 | 581/1302 | 194/433 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
| APOO_chrX_23828353_23912938 | 23856353 | A | ACC | frameshift_variant | HIGH | NA19086.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0035 | 1 | 269 | 0.0037 | 2 | c.508 others(9): Show |
p.Leu others(5): Show |
APOO | ENSG00000184831.14 | transcript | ENST00000379226.9 | protein_coding | 7/9 | 745/1122 | 509/597 | 170/198 | chrX | TogoVar | ||
| AQP12B_chr2_240671418_240687885 | 240682382 | GC | G | frameshift_variant | HIGH | HG02622.hp1 NA18906.hp2 NA18974.hp2 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0025a0006c0006t0002g0075a0006c0006t0002g0076 | 4 | 179 | 0.0224 | -1 | c.455 others(4): Show |
p.Ser others(5): Show |
AQP12B | ENSG00000185176.13 | transcript | ENST00000407834.4 | protein_coding | 1/3 | 503/1099 | 455/924 | 152/307 | chr2 | TogoVar | ||
| AQP5_chr12_49956872_49970682 | 49962144 | C | CGACGGCC others(28): Show |
frameshift_variant | HIGH | HG02896.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0116 | 1 | 466 | 0.0022 | 35 | c.127 others(42): Show |
p.Leu others(4): Show |
AQP5 | ENSG00000161798.7 | transcript | ENST00000293599.7 | protein_coding | 1/4 | 274/1449 | 128/798 | 43/265 | chr12 | TogoVar |