| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AHNAK2_chr14_104932253_104983374 | 104948834 | AGGGGCTG others(488): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00323.hp1 HG00642.hp1 others(57): Show |
a0001a0011a0021others(24): Show | a0001c0001a0001c0003a0001c0045others(32): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(32): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(41): Show | 60 | 356 | 0.1685 | -495 | c.612 others(9): Show |
p.Pro others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 6753/18335 | 6122/17388 | 2041/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104948854 | AGTGGTCT others(983): Show |
A | disruptive_inframe_deletion | MODERATE | HG02896.hp1 HG02897.hp2 |
a0028 | a0028c0019 | a0028c0019t0009 | a0028c0019t0009g0049a0028c0019t0009g0050 | 2 | 356 | 0.0056 | -990 | c.560 others(9): Show |
p.Asp others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 6733/18335 | 5607/17388 | 1869/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104948962 | AAACGACG others(2468): Show |
A | disruptive_inframe_deletion | MODERATE | HG00639.hp2 HG00738.hp2 HG01109.hp1 others(9): Show |
a0007a0165a0166others(2): Show | a0007c0004a0007c0104a0165c0100others(3): Show | a0007c0004t0001a0007c0104t0001a0165c0100t0001others(3): Show | a0007c0004t0001g0237a0007c0004t0001g0238a0007c0004t0001g0242others(9): Show | 12 | 356 | 0.0337 | -2475 | c.401 others(9): Show |
p.Gly others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 6625/18335 | 4014/17388 | 1338/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104949349 | AGTGGTCT others(488): Show |
A | disruptive_inframe_deletion | MODERATE | HG03130.hp1 | a0064 | a0064c0165 | a0064c0165t0001 | a0064c0165t0001g0247 | 1 | 356 | 0.0028 | -495 | c.560 others(9): Show |
p.Asp others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 6238/18335 | 5607/17388 | 1869/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104949406 | TGCAGGCA others(488): Show |
T | disruptive_inframe_deletion | MODERATE | NA18948.hp2 NA18977.hp2 NA19081.hp2 |
a0018 | a0018c0017 | a0018c0017t0005 | a0018c0017t0005g0008 | 3 | 356 | 0.0084 | -495 | c.555 others(9): Show |
p.Pro others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 6181/18335 | 5550/17388 | 1850/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104949853 | GAGGTCCC others(488): Show |
G | disruptive_inframe_deletion | MODERATE | HG02572.hp1 | a0108 | a0108c0218 | a0108c0218t0002 | a0108c0218t0002g0303 | 1 | 356 | 0.0028 | -495 | c.510 others(9): Show |
p.Lys others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5734/18335 | 5103/17388 | 1701/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104949902 | GCAGACAC others(488): Show |
G | disruptive_inframe_deletion | MODERATE | NA19043.hp2 | a0122 | a0122c0213 | a0122c0213t0015 | a0122c0213t0015g0304 | 1 | 356 | 0.0028 | -495 | c.505 others(9): Show |
p.Glu others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5685/18335 | 5054/17388 | 1685/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104949925 | GATGGACT others(1478): Show |
G | disruptive_inframe_deletion | MODERATE | NA18959.hp1 NA18961.hp1 NA18967.hp2 others(2): Show |
a0014a0164 | a0014c0009a0164c0139 | a0014c0009t0001a0164c0139t0001 | a0014c0009t0001g0025a0014c0009t0001g0167a0014c0009t0001g0171others(1): Show | 5 | 356 | 0.0140 | -1485 | c.404 others(9): Show |
p.Glu others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5662/18335 | 4041/17388 | 1347/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104950127 | GCCTTGGG others(983): Show |
G | disruptive_inframe_deletion | MODERATE | HG06807.hp2 | a0125 | a0125c0242 | a0125c0242t0003 | a0125c0242t0003g0137 | 1 | 356 | 0.0028 | -990 | c.433 others(9): Show |
p.Val others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5460/18335 | 4334/17388 | 1445/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104950165 | GTCCATCT others(1478): Show |
G | disruptive_inframe_deletion | MODERATE | NA18948.hp2 NA18977.hp2 NA19081.hp2 |
a0018 | a0018c0017 | a0018c0017t0005 | a0018c0017t0005g0008 | 3 | 356 | 0.0084 | -1485 | c.380 others(9): Show |
p.Glu others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5422/18335 | 3801/17388 | 1267/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104950411 | CGAGGCCT others(488): Show |
C | disruptive_inframe_deletion | MODERATE | NA18943.hp2 NA19055.hp1 |
a0043 | a0043c0040 | a0043c0040t0001 | a0043c0040t0001g0172a0043c0040t0001g0191 | 2 | 356 | 0.0056 | -495 | c.454 others(9): Show |
p.Val others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5176/18335 | 4545/17388 | 1515/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104950535 | TGCGCACC others(2468): Show |
T | disruptive_inframe_deletion | MODERATE | HG02015.hp2 | a0104 | a0104c0212 | a0104c0212t0002 | a0104c0212t0002g0259 | 1 | 356 | 0.0028 | -2475 | c.244 others(9): Show |
p.Arg others(14): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5052/18335 | 2441/17388 | 814/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104950828 | CAGGTCAG others(1973): Show |
C | disruptive_inframe_deletion | MODERATE | HG03942.hp2 | a0065 | a0065c0203 | a0065c0203t0002 | a0065c0203t0002g0201 | 1 | 356 | 0.0028 | -1980 | c.264 others(9): Show |
p.Ser others(14): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4759/18335 | 2643/17388 | 881/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104950867 | GCTCACGT others(983): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(47): Show |
a0001a0021a0022others(19): Show | a0001c0001a0001c0003a0001c0045others(26): Show | a0001c0001t0002a0001c0003t0002a0001c0045t0002others(26): Show | a0001c0001t0002g0001a0001c0001t0002g0012a0001c0001t0002g0051others(35): Show | 50 | 356 | 0.1405 | -990 | c.359 others(9): Show |
p.Leu others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4720/18335 | 3594/17388 | 1198/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104950915 | GATGGACT others(488): Show |
G | disruptive_inframe_deletion | MODERATE | HG03225.hp2 | a0169 | a0169c0237 | a0169c0237t0003 | a0169c0237t0003g0139 | 1 | 356 | 0.0028 | -495 | c.404 others(9): Show |
p.Glu others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4672/18335 | 4041/17388 | 1347/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104950948 | CGGCATCT others(983): Show |
C | disruptive_inframe_deletion | MODERATE | HG04228.hp2 NA18953.hp1 NA19002.hp1 others(6): Show |
a0011a0029a0030others(2): Show | a0011c0012a0029c0047a0030c0223others(2): Show | a0011c0012t0002a0029c0047t0002a0030c0223t0007others(2): Show | a0011c0012t0002g0006a0029c0047t0002g0031a0030c0223t0007g0255others(2): Show | 9 | 356 | 0.0253 | -990 | c.351 others(9): Show |
p.Ser others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4639/18335 | 3513/17388 | 1171/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104950948 | CGGCATCT others(2447): Show |
C | disruptive_inframe_deletion | MODERATE | HG00733.hp1 | a0205 | a0205c0245 | a0205c0245t0002 | a0205c0245t0002g0067 | 1 | 356 | 0.0028 | -2454 | c.204 others(9): Show |
p.Leu others(14): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4639/18335 | 2049/17388 | 683/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104951125 | GTCTTTTA others(488): Show |
G | disruptive_inframe_deletion | MODERATE | HG00609.hp1 HG02056.hp1 HG03130.hp1 others(3): Show |
a0020a0064a0066others(1): Show | a0020c0018a0064c0165a0066c0202others(1): Show | a0020c0018t0002a0064c0165t0001a0066c0202t0005others(1): Show | a0020c0018t0002g0009a0064c0165t0001g0247a0066c0202t0005g0203others(1): Show | 6 | 356 | 0.0169 | -495 | c.383 others(9): Show |
p.His others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4462/18335 | 3831/17388 | 1277/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104951155 | GTCTATTT others(488): Show |
G | disruptive_inframe_deletion | MODERATE | HG02630.hp1 | a0068 | a0068c0169 | a0068c0169t0002 | a0068c0169t0002g0071 | 1 | 356 | 0.0028 | -495 | c.380 others(9): Show |
p.Glu others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4432/18335 | 3801/17388 | 1267/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104951806 | GGGCTGAA others(488): Show |
G | disruptive_inframe_deletion | MODERATE | HG02922.hp2 | a0197 | a0197c0057 | a0197c0057t0001 | a0197c0057t0001g0068 | 1 | 356 | 0.0028 | -495 | c.315 others(9): Show |
p.Ala others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 3781/18335 | 3150/17388 | 1050/5795 | chr14 | TogoVar | ||
| AHNAK_chr11_62510902_62551806 | 62528495 | CCCTTTCA others(194): Show |
C | disruptive_inframe_deletion | MODERATE | HG01074.hp2 | a0044 | a0044c0045 | a0044c0045t0001 | a0044c0045t0001g0062 | 1 | 186 | 0.0054 | -201 | c.572 others(9): Show |
p.Pro others(15): Show |
AHNAK | ENSG00000124942.14 | transcript | ENST00000378024.9 | protein_coding | 5/5 | 6167/18761 | 5721/17673 | 1907/5890 | chr11 | TogoVar | ||
| AK9_chr6_109487855_109696202 | 109585126 | GCTT | G | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(133): Show |
a0003a0004a0006others(3): Show | a0003c0003a0004c0004a0006c0006others(4): Show | a0003c0003t0001a0004c0004t0001a0006c0006t0003others(4): Show | a0003c0003t0001g0020a0003c0003t0001g0021a0003c0003t0001g0022others(133): Show | 136 | 378 | 0.3598 | -3 | c.210 others(12): Show |
p.Glu others(6): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 19/41 | 2177/6317 | 2108/5736 | 703/1911 | chr6 | TogoVar | ||
| AKAP12_chr6_151234967_151363559 | 151349194 | AAGG | A | disruptive_inframe_deletion | MODERATE | HG00423.hp1 HG02258.hp1 HG02451.hp1 others(13): Show |
a0011a0015a0016others(3): Show | a0011c0021a0011c0030a0015c0022others(6): Show | a0011c0021t0022a0011c0021t0049a0011c0030t0016others(10): Show | a0011c0021t0022g0024a0011c0021t0049g0019a0011c0030t0016g0017others(13): Show | 16 | 316 | 0.0506 | -3 | c.806 others(10): Show |
p.Gly others(6): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 4/5 | 1078/8466 | 806/5349 | 269/1782 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| ALDH7A1_chr5_126536841_126600219 | 126559319 | TCTGCATC others(18): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | NA18967.hp1 | a0008 | a0008c0009 | a0008c0009t0002 | a0008c0009t0002g0328 | 1 | 380 | 0.0026 | -25 | c.914 others(35): Show |
p.Ala others(13): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 11/18 | 949/4765 | 914/1620 | 305/539 | chr5 | TogoVar | ||
| ALG13_chrX_111676170_111765649 | 111744725 | TACC | T | disruptive_inframe_deletion | MODERATE | HG00558.hp1 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0095 | 1 | 191 | 0.0052 | -3 | c.279 others(12): Show |
p.Pro others(6): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 24/27 | 2845/4113 | 2796/3414 | 932/1137 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ALG13_chrX_111676170_111765649 | 111744725 | TACCACC | T | disruptive_inframe_deletion | MODERATE | HG02738.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0156 | 1 | 191 | 0.0052 | -6 | c.279 others(15): Show |
p.Pro others(13): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 24/27 | 2842/4113 | 2793/3414 | 931/1137 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| ALLC_chr2_3653200_3707671 | 3701561 | GGAA | G | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(138): Show |
a0002a0003a0005others(5): Show | a0002c0002a0002c0005a0002c0009others(10): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(15): Show | a0002c0002t0001g0048a0002c0002t0001g0064a0002c0002t0001g0065others(131): Show | 141 | 274 | 0.5146 | -3 | c.908 others(10): Show |
p.Glu others(6): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 11/12 | 1065/1441 | 908/1176 | 303/391 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| ALMS1_chr2_73380836_73614916 | 73385903 | TGGA | T | disruptive_inframe_deletion | MODERATE | HG00642.hp2 HG01346.hp1 HG01433.hp2 others(16): Show |
a0005a0021a0022others(1): Show | a0005c0005a0005c0058a0021c0029others(2): Show | a0005c0005t0001a0005c0058t0001a0021c0029t0001others(2): Show | a0005c0005t0001g0106a0005c0005t0001g0107a0005c0005t0001g0108others(16): Show | 19 | 248 | 0.0766 | -3 | c.72_ others(8): Show |
p.Glu others(5): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 105/12844 | 72/12507 | 24/4168 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| ALMS1_chr2_73380836_73614916 | 73385903 | TGGAGGA | T | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(131): Show |
a0002a0003a0004others(26): Show | a0002c0004a0002c0011a0002c0020others(41): Show | a0002c0004t0001a0002c0011t0001a0002c0020t0001others(41): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(131): Show | 134 | 248 | 0.5403 | -6 | c.69_ others(11): Show |
p.Glu others(11): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 102/12844 | 69/12507 | 23/4168 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| ALMS1_chr2_73380836_73614916 | 73385903 | TGGAGGAG others(8): Show |
T | disruptive_inframe_deletion | MODERATE | HG02055.hp2 HG02717.hp2 HG03540.hp1 others(1): Show |
a0017a0024a0025 | a0017c0017a0024c0030a0025c0031 | a0017c0017t0003a0024c0030t0001a0025c0031t0001 | a0017c0017t0003g0224a0017c0017t0003g0225a0024c0030t0001g0227others(1): Show | 4 | 248 | 0.0161 | -15 | c.60_ others(20): Show |
p.Glu others(11): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 1/23 | 93/12844 | 60/12507 | 20/4168 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| ALMS1_chr2_73380836_73614916 | 73448097 | TCTC | T | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(126): Show |
a0002a0003a0004others(29): Show | a0002c0004a0002c0011a0002c0020others(43): Show | a0002c0004t0001a0002c0011t0001a0002c0020t0001others(43): Show | a0002c0004t0001g0005a0002c0004t0001g0031a0002c0004t0001g0033others(126): Show | 129 | 248 | 0.5202 | -3 | c.157 others(12): Show |
p.Pro others(6): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 8/23 | 1607/12844 | 1574/12507 | 525/4168 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| ALOX12_chr17_6991049_7015754 | 7001614 | AACCCCAG others(26): Show |
A | disruptive_inframe_deletion | MODERATE | NA18939.hp1 | a0007 | a0007c0018 | a0007c0018t0001 | a0007c0018t0001g0077 | 1 | 404 | 0.0025 | -33 | c.965 others(40): Show |
p.Asn others(19): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 8/14 | 1034/2392 | 965/1992 | 322/663 | chr17 | TogoVar | ||
| ALPK2_chr18_58476247_58634091 | 58536020 | AAAG | A | disruptive_inframe_deletion | MODERATE | HG00642.hp2 HG00733.hp1 HG00741.hp2 others(9): Show |
a0014a0023a0036others(3): Show | a0014c0011a0023c0026a0036c0047others(3): Show | a0014c0011t0003a0014c0011t0007a0023c0026t0001others(6): Show | a0014c0011t0003g0259a0014c0011t0007g0082a0014c0011t0007g0083others(9): Show | 12 | 320 | 0.0375 | -3 | c.416 others(12): Show |
p.Phe others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 4514/7437 | 4164/6513 | 1388/2170 | chr18 | TogoVar | ||
| ALPK2_chr18_58476247_58634091 | 58537155 | ACAGTTGA others(8): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(134): Show |
a0002a0004a0011others(26): Show | a0002c0002a0002c0014a0002c0079others(40): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(71): Show | a0002c0002t0001g0126a0002c0002t0001g0146a0002c0002t0001g0147others(134): Show | 137 | 320 | 0.4281 | -15 | c.301 others(24): Show |
p.Glu others(15): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 3379/7437 | 3017/6513 | 1006/2170 | chr18 | TogoVar | ||
| ALX4_chr11_44255440_44315139 | 44309737 | TGCTGCGG others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG01243.hp2 HG02572.hp2 HG02922.hp1 others(8): Show |
a0004a0006 | a0004c0009a0004c0023a0004c0024others(1): Show | a0004c0009t0007a0004c0009t0009a0004c0009t0011others(5): Show | a0004c0009t0007g0170a0004c0009t0009g0168a0004c0009t0009g0169others(8): Show | 11 | 388 | 0.0284 | -12 | c.314 others(19): Show |
p.Pro others(13): Show |
ALX4 | ENSG00000052850.8 | transcript | ENST00000652299.1 | protein_coding | 1/4 | 402/5727 | 314/1236 | 105/411 | chr11 | TogoVar | ||
| AMBN_chr4_70587256_70612288 | 70602628 | CAGG | C | disruptive_inframe_deletion | MODERATE | HG00280.hp2 HG00323.hp1 HG00597.hp1 others(51): Show |
a0002a0008a0019others(2): Show | a0002c0003a0002c0005a0002c0018others(5): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(9): Show | a0002c0003t0001g0006a0002c0003t0001g0017a0002c0003t0001g0028others(35): Show | 54 | 480 | 0.1125 | -3 | c.539 others(10): Show |
p.Gly others(6): Show |
AMBN | ENSG00000178522.15 | transcript | ENST00000322937.10 | protein_coding | 7/13 | 642/2005 | 539/1344 | 180/447 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
| AMOT_chrX_112769877_112845831 | 112779389 | GCTGGAGC others(20): Show |
G | disruptive_inframe_deletion | MODERATE | HG01069.hp1 HG01071.hp2 homoSapiens_chm13v2.hp1 |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0005a0003c0006t0001g0192 | 3 | 270 | 0.0111 | -27 | c.273 others(36): Show |
p.Val others(13): Show |
AMOT | ENSG00000126016.17 | transcript | ENST00000371959.9 | protein_coding | 13/14 | 3432/7613 | 2738/3255 | 913/1084 | chrX | TogoVar | ||
| ANAPC7_chr12_110367900_110408708 | 110381771 | ACAAGGTG others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG02280.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0228 | 1 | 298 | 0.0034 | -12 | c.110 others(21): Show |
p.Leu others(13): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 8/11 | 1193/3023 | 1101/1698 | 367/565 | chr12 | TogoVar | ||
| ANKRD24_chr19_4177689_4229814 | 4217382 | GGGAGGCA others(11): Show |
G | disruptive_inframe_deletion | MODERATE | NA19078.hp1 | a0033 | a0033c0032 | a0033c0032t0002 | a0033c0032t0002g0282 | 1 | 356 | 0.0028 | -18 | c.222 others(27): Show |
p.Ala others(13): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 18/22 | 2317/3838 | 2229/3441 | 743/1146 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| ANKRD26_chr10_26999116_27105494 | 27053356 | CTCT | C | disruptive_inframe_deletion | MODERATE | HG02015.hp2 HG02738.hp1 HG03704.hp1 others(40): Show |
a0003a0025 | a0003c0003a0003c0032a0025c0033 | a0003c0003t0003a0003c0003t0010a0003c0032t0003others(1): Show | a0003c0003t0003g0246a0003c0003t0003g0250a0003c0003t0003g0251others(40): Show | 43 | 358 | 0.1201 | -3 | c.159 others(12): Show |
p.Glu others(6): Show |
ANKRD26 | ENSG00000107890.17 | transcript | ENST00000376087.5 | protein_coding | 16/34 | 1766/6775 | 1596/5133 | 532/1710 | chr10 | TogoVar | ||
| ANKRD31_chr5_75063297_75241878 | 75195890 | TTCA | T | disruptive_inframe_deletion | MODERATE | HG00140.hp2 HG00280.hp1 HG00438.hp2 others(217): Show |
a0002a0003a0004others(21): Show | a0002c0002a0002c0022a0003c0003others(26): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0008others(32): Show | a0002c0002t0001g0001a0002c0002t0001g0021a0002c0002t0001g0022others(213): Show | 220 | 334 | 0.6587 | -3 | c.755 others(10): Show |
p.Met others(6): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 7/26 | 949/6207 | 755/5793 | 252/1930 | chr5 | TogoVar | ||
| ANKRD33_chr12_51883103_51896727 | 51890755 | TGGCCCAG others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG00323.hp1 | a0010 | a0010c0023 | a0010c0023t0003 | a0010c0023t0003g0006 | 1 | 450 | 0.0022 | -12 | c.824 others(19): Show |
p.Ala others(13): Show |
ANKRD33 | ENSG00000167612.13 | transcript | ENST00000301190.11 | protein_coding | 5/5 | 908/1865 | 824/1359 | 275/452 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| ANKRD36_chr2_97108153_97269521 | 97124506 | ATTC | A | disruptive_inframe_deletion | MODERATE | HG00423.hp2 HG02040.hp2 NA18612.hp2 |
a0022a0048 | a0022c0020a0048c0030 | a0022c0020t0001a0048c0030t0002 | a0022c0020t0001g0097a0022c0020t0001g0098a0048c0030t0002g0003 | 3 | 212 | 0.0142 | -3 | c.648 others(10): Show |
p.Leu others(6): Show |
ANKRD36 | ENSG00000135976.21 | transcript | ENST00000420699.9 | protein_coding | 5/76 | 1235/6534 | 648/5748 | 216/1915 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| ANKRD53_chr2_70973630_70990499 | 70984703 | AGCCCGGG others(5): Show |
A | disruptive_inframe_deletion | MODERATE | NA18951.hp2 NA18970.hp1 |
a0013 | a0013c0021 | a0013c0021t0002 | a0013c0021t0002g0002a0013c0021t0002g0028 | 2 | 450 | 0.0044 | -12 | c.100 others(21): Show |
p.Arg others(13): Show |
ANKRD53 | ENSG00000144031.12 | transcript | ENST00000360589.4 | protein_coding | 6/6 | 1017/1808 | 1001/1593 | 334/530 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| ANKRD53_chr2_70973630_70990499 | 70984816 | TGCCCAA | T | disruptive_inframe_deletion | MODERATE | HG01884.hp1 HG02257.hp2 HG02559.hp1 others(5): Show |
a0006 | a0006c0009 | a0006c0009t0002 | a0006c0009t0002g0011a0006c0009t0002g0040 | 8 | 450 | 0.0178 | -6 | c.111 others(15): Show |
p.Lys others(13): Show |
ANKRD53 | ENSG00000144031.12 | transcript | ENST00000360589.4 | protein_coding | 6/6 | 1131/1808 | 1115/1593 | 372/530 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
| ANP32E_chr1_150213417_150241112 | 150226707 | CTCCTCT | C | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00544.hp1 HG00544.hp2 others(148): Show |
a0002a0003 | a0002c0001a0002c0008a0003c0006 | a0002c0001t0001a0002c0001t0002a0002c0001t0007others(10): Show | a0002c0001t0001g0006a0002c0001t0001g0015a0002c0001t0001g0016others(138): Show | 151 | 370 | 0.4081 | -6 | c.576 others(13): Show |
p.Glu others(13): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 5/7 | 907/3407 | 576/807 | 192/268 | chr1 | TogoVar | ||
| AP3B1_chr5_77997326_78299698 | 78015515 | ACAG | A | disruptive_inframe_deletion | MODERATE | HG01884.hp1 HG01884.hp2 HG02451.hp2 others(9): Show |
a0003 | a0003c0007a0003c0008a0003c0009 | a0003c0007t0002a0003c0008t0002a0003c0009t0002 | a0003c0007t0002g0072a0003c0007t0002g0079a0003c0007t0002g0081others(9): Show | 12 | 226 | 0.0531 | -3 | c.302 others(12): Show |
p.Ala others(7): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 26/27 | 3144/3980 | 3023/3285 | 1008/1094 | chr5 | TogoVar | ||
| AP3B2_chr15_82654281_82714875 | 82664387 | CTCCTCA | C | disruptive_inframe_deletion | MODERATE | HG00438.hp2 NA18944.hp2 NA18954.hp1 others(3): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0019a0002c0003t0001g0084a0002c0003t0001g0085others(3): Show | 6 | 368 | 0.0163 | -6 | c.223 others(15): Show |
p.Asp others(13): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 19/27 | 2409/3754 | 2235/3306 | 745/1101 | chr15 | TogoVar | ||
| APBB1IP_chr10_26433341_26572803 | 26567284 | CCCG | C | disruptive_inframe_deletion | MODERATE | HG02622.hp2 HG02922.hp2 HG03041.hp1 others(1): Show |
a0004 | a0004c0005a0004c0013 | a0004c0005t0002a0004c0013t0002 | a0004c0005t0002g0298a0004c0005t0002g0305a0004c0005t0002g0306others(1): Show | 4 | 358 | 0.0112 | -3 | c.181 others(12): Show |
p.Pro others(6): Show |
APBB1IP | ENSG00000077420.16 | transcript | ENST00000376236.9 | protein_coding | 15/15 | 2132/2633 | 1815/2001 | 605/666 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
| APC2_chr19_1445121_1478244 | 1468799 | CGAGCCCC others(17): Show |
C | disruptive_inframe_deletion | MODERATE | NA18944.hp1 | a0023 | a0023c0049 | a0023c0049t0010 | a0023c0049t0010g0003 | 1 | 350 | 0.0029 | -24 | c.550 others(33): Show |
p.Pro others(15): Show |
APC2 | ENSG00000115266.12 | transcript | ENST00000590469.6 | protein_coding | 15/15 | 5740/10179 | 5504/6912 | 1835/2303 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |