view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANKRD18B_chr9_33519251_33578013 | 33555703 | TC | T | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00544.hp2 HG00673.hp2 others(46): Show |
a0001a0002a0013others(1): Show | a0001c0001a0002c0003a0013c0021others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0003t0002others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0022 others(39): Show |
49 | 372 | 0.1317 | -1 | c.221 others(7): Show |
ANKRD18B | ENSG00000230453.11 | transcript | ENST00000684830.1 | protein_coding | 12/18 | chr9 | TogoVar | |||||||
ANKRD1_chr10_90907096_90926087 | 90918970 | C | T | splice_region_variant others(1): Show |
LOW | HG01070.hp1 HG01123.hp1 HG01928.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008a0001c0002t0011 | a0001c0002t0001g0015 a0001c0002t0008g0100 a0001c0002t0008g0106 others(1): Show |
10 | 466 | 0.0215 | 0 | c.348 others(3): Show |
p.Thr others(6): Show |
ANKRD1 | ENSG00000148677.7 | transcript | ENST00000371697.4 | protein_coding | 4/9 | 408/1790 | 348/960 | 116/319 | chr10 | TogoVar | |||
ANKRD20A1_chr9_67853931_67907394 | 67897553 | T | C | splice_region_variant others(1): Show |
LOW | HG02922.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0002g0008 |
2 | 8 | 0.2500 | 0 | c.115 others(6): Show |
ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 12/14 | chr9 | TogoVar | |||||||
ANKRD20A1_chr9_67853931_67907394 | 67899325 | T | C | missense_variant others(1): Show |
MODERATE | NA19240.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0004 | 1 | 8 | 0.1250 | 0 | c.149 others(4): Show |
p.Trp others(6): Show |
ANKRD20A1 | ENSG00000260691.8 | transcript | ENST00000562196.6 | protein_coding | 14/15 | 1991/3895 | 1495/2472 | 499/823 | chr9 | TogoVar | |||
ANKRD24_chr19_4177689_4229814 | 4207967 | C | T | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02145.hp2 HG02258.hp2 others(15): Show |
a0005a0013a0020 | a0005c0006a0013c0019a0020c0036others(1): Show | a0005c0006t0001a0005c0006t0002a0005c0006t0004others(3): Show | a0005c0006t0001g0086 a0005c0006t0001g0127 a0005c0006t0001g0171 others(15): Show |
18 | 354 | 0.0508 | 0 | c.831 others(3): Show |
p.Ser others(6): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 10/22 | 919/3838 | 831/3441 | 277/1146 | chr19 | TogoVar | |||
ANKRD24_chr19_4177689_4229814 | 4212512 | A | G | missense_variant others(1): Show |
MODERATE | NA18967.hp2 | a0036 | a0036c0046 | a0036c0046t0002 | a0036c0046t0002g0304 | 1 | 354 | 0.0028 | 0 | c.109 others(4): Show |
p.Gln others(6): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 14/22 | 1185/3838 | 1097/3441 | 366/1146 | chr19 | TogoVar | |||
ANKRD24_chr19_4177689_4229814 | 4212513 | G | C | missense_variant others(1): Show |
MODERATE | NA18967.hp2 | a0036 | a0036c0046 | a0036c0046t0002 | a0036c0046t0002g0304 | 1 | 354 | 0.0028 | 0 | c.109 others(4): Show |
p.Gln others(6): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 14/22 | 1186/3838 | 1098/3441 | 366/1146 | chr19 | TogoVar | |||
ANKRD24_chr19_4177689_4229814 | 4212520 | G | T | splice_region_variant others(1): Show |
LOW | NA18967.hp2 | a0036 | a0036c0046 | a0036c0046t0002 | a0036c0046t0002g0304 | 1 | 354 | 0.0028 | 0 | c.109 others(6): Show |
ANKRD24 | ENSG00000089847.13 | transcript | ENST00000318934.9 | protein_coding | 14/21 | chr19 | TogoVar | |||||||
ANKRD26_chr10_26999116_27105494 | 27028849 | T | C | splice_region_variant others(1): Show |
LOW | HG00597.hp2 HG00609.hp1 HG01070.hp1 others(57): Show |
a0002a0013a0018others(4): Show | a0002c0002a0013c0031a0018c0030others(4): Show | a0002c0002t0002a0002c0002t0007a0013c0031t0002others(5): Show | a0002c0002t0002g0003 a0002c0002t0002g0006 a0002c0002t0002g0007 others(56): Show |
60 | 356 | 0.1685 | 0 | c.397 others(6): Show |
ANKRD26 | ENSG00000107890.17 | transcript | ENST00000376087.5 | protein_coding | 27/33 | chr10 | TogoVar | |||||||
ANKRD26_chr10_26999116_27105494 | 27033377 | C | T | missense_variant others(1): Show |
MODERATE | HG00642.hp2 HG01346.hp1 HG02738.hp2 |
a0010a0014 | a0010c0012a0014c0018 | a0010c0012t0001a0014c0018t0001 | a0010c0012t0001g0117 a0010c0012t0001g0118 a0014c0018t0001g0063 |
3 | 356 | 0.0084 | 0 | c.365 others(4): Show |
p.Val others(7): Show |
ANKRD26 | ENSG00000107890.17 | transcript | ENST00000376087.5 | protein_coding | 25/34 | 3823/6775 | 3655/5133 | 1219/1710 | chr10 | TogoVar | |||
ANKRD26_chr10_26999116_27105494 | 27037868 | T | C | splice_region_variant others(1): Show |
LOW | HG01099.hp1 HG02723.hp1 NA20300.hp2 |
a0006 | a0006c0007 | a0006c0007t0004 | a0006c0007t0004g0279 a0006c0007t0004g0280 a0006c0007t0004g0281 |
3 | 356 | 0.0084 | 0 | c.255 others(6): Show |
ANKRD26 | ENSG00000107890.17 | transcript | ENST00000376087.5 | protein_coding | 22/33 | chr10 | TogoVar | |||||||
ANKRD26_chr10_26999116_27105494 | 27038058 | C | T | splice_region_variant others(1): Show |
LOW | HG00735.hp1 HG01123.hp1 HG01891.hp2 others(4): Show |
a0007a0024 | a0007c0008a0024c0019 | a0007c0008t0001a0024c0019t0001 | a0007c0008t0001g0004 a0007c0008t0001g0076 a0007c0008t0001g0077 others(3): Show |
7 | 356 | 0.0197 | 0 | c.237 others(6): Show |
ANKRD26 | ENSG00000107890.17 | transcript | ENST00000376087.5 | protein_coding | 21/33 | chr10 | TogoVar | |||||||
ANKRD26_chr10_26999116_27105494 | 27044192 | T | TA | splice_region_variant others(1): Show |
LOW | HG00735.hp2 HG01123.hp2 HG01255.hp1 others(28): Show |
a0001a0012 | a0001c0001a0012c0016 | a0001c0001t0001a0001c0001t0013a0012c0016t0001 | a0001c0001t0001g0080 a0001c0001t0001g0111 a0001c0001t0001g0112 others(28): Show |
31 | 258 | 0.1202 | 1 | c.198 others(7): Show |
ANKRD26 | ENSG00000107890.17 | transcript | ENST00000376087.5 | protein_coding | 18/33 | chr10 | TogoVar | |||||||
ANKRD26_chr10_26999116_27105494 | 27044192 | TA | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(95): Show |
a0002a0003a0004others(6): Show | a0002c0002a0003c0003a0003c0032others(9): Show | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(17): Show | a0002c0002t0002g0023 a0002c0002t0004g0278 a0002c0002t0004g0293 others(94): Show |
98 | 325 | 0.3015 | -1 | c.198 others(7): Show |
ANKRD26 | ENSG00000107890.17 | transcript | ENST00000376087.5 | protein_coding | 18/33 | chr10 | TogoVar | |||||||
ANKRD26_chr10_26999116_27105494 | 27060339 | A | G | splice_region_variant others(1): Show |
LOW | HG01074.hp1 HG03704.hp2 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0339 a0002c0002t0005g0340 |
2 | 356 | 0.0056 | 0 | c.156 others(6): Show |
ANKRD26 | ENSG00000107890.17 | transcript | ENST00000376087.5 | protein_coding | 15/33 | chr10 | TogoVar | |||||||
ANKRD26_chr10_26999116_27105494 | 27066474 | CCATAG | C | splice_region_variant others(1): Show |
LOW | HG02015.hp2 HG02738.hp1 HG02976.hp1 others(41): Show |
a0002a0003 | a0002c0002a0003c0003a0003c0032others(1): Show | a0002c0002t0016a0003c0003t0003a0003c0003t0010others(2): Show | a0002c0002t0016g0347 a0003c0003t0003g0005 a0003c0003t0003g0246 others(40): Show |
44 | 355 | 0.1239 | -5 | c.126 others(19): Show |
ANKRD26 | ENSG00000107890.17 | transcript | ENST00000376087.5 | protein_coding | 11/33 | chr10 | TogoVar | |||||||
ANKRD26_chr10_26999116_27105494 | 27066480 | A | T | splice_region_variant others(1): Show |
LOW | HG02015.hp2 HG02738.hp1 HG02976.hp1 others(41): Show |
a0002a0003 | a0002c0002a0003c0003a0003c0032others(1): Show | a0002c0002t0016a0003c0003t0003a0003c0003t0010others(2): Show | a0002c0002t0016g0347 a0003c0003t0003g0005 a0003c0003t0003g0246 others(40): Show |
44 | 356 | 0.1236 | 0 | c.126 others(6): Show |
ANKRD26 | ENSG00000107890.17 | transcript | ENST00000376087.5 | protein_coding | 11/33 | chr10 | TogoVar | |||||||
ANKRD26_chr10_26999116_27105494 | 27066551 | A | G | splice_region_variant others(1): Show |
LOW | NA19007.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0265 | 1 | 356 | 0.0028 | 0 | c.120 others(6): Show |
ANKRD26 | ENSG00000107890.17 | transcript | ENST00000376087.5 | protein_coding | 10/33 | chr10 | TogoVar | |||||||
ANKRD27_chr19_32592006_32680180 | 32640389 | C | A | splice_region_variant others(1): Show |
LOW | HG01515.hp2 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0269 | 1 | 346 | 0.0029 | 0 | c.905 others(5): Show |
ANKRD27 | ENSG00000105186.16 | transcript | ENST00000306065.9 | protein_coding | 10/28 | chr19 | TogoVar | |||||||
ANKRD27_chr19_32592006_32680180 | 32646622 | A | T | splice_region_variant others(1): Show |
LOW | HG01952.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0206 | 1 | 346 | 0.0029 | 0 | c.214 others(5): Show |
ANKRD27 | ENSG00000105186.16 | transcript | ENST00000306065.9 | protein_coding | 3/28 | chr19 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15679478 | G | A | splice_region_variant others(1): Show |
LOW | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0280 a0001c0009t0005g0281 |
2 | 338 | 0.0059 | 0 | c.247 others(4): Show |
p.Ala others(6): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 22/28 | 3933/7744 | 2475/3252 | 825/1083 | chr3 | TogoVar | |||
ANKRD28_chr3_15662236_15802979 | 15686316 | A | G | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(110): Show |
a0001a0004a0005 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0014others(13): Show | a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 others(109): Show |
113 | 338 | 0.3343 | 0 | c.196 others(6): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 18/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15712134 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(122): Show |
a0001a0002a0003 | a0001c0002a0002c0006a0003c0015 | a0001c0002t0001a0001c0002t0007a0001c0002t0011others(16): Show | a0001c0002t0001g0001 a0001c0002t0001g0018 a0001c0002t0001g0019 others(121): Show |
125 | 338 | 0.3698 | 0 | c.127 others(6): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 11/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15714661 | G | T | splice_region_variant others(1): Show |
LOW | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0318 | 1 | 338 | 0.0030 | 0 | c.997 others(5): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 8/27 | chr3 | TogoVar | |||||||
ANKRD28_chr3_15662236_15802979 | 15795216 | G | GT | splice_region_variant others(1): Show |
LOW | HG01168.hp1 HG01169.hp2 HG01891.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0234 a0001c0001t0004g0235 a0001c0001t0004g0236 others(10): Show |
13 | 338 | 0.0385 | 1 | c.201 others(6): Show |
ANKRD28 | ENSG00000206560.12 | transcript | ENST00000683139.1 | protein_coding | 2/27 | chr3 | TogoVar | |||||||
ANKRD29_chr18_23593926_23667911 | 23612189 | T | C | missense_variant others(1): Show |
MODERATE | HG02698.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0143 | 1 | 350 | 0.0029 | 0 | c.725 others(3): Show |
p.Asn others(6): Show |
ANKRD29 | ENSG00000154065.17 | transcript | ENST00000592179.6 | protein_coding | 9/10 | 906/3387 | 725/906 | 242/301 | chr18 | TogoVar | |||
ANKRD29_chr18_23593926_23667911 | 23649075 | C | A | splice_region_variant others(1): Show |
LOW | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 350 | 0.0029 | 0 | c.132 others(5): Show |
ANKRD29 | ENSG00000154065.17 | transcript | ENST00000592179.6 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
ANKRD2_chr10_97567779_97588884 | 97583578 | A | G | splice_region_variant others(1): Show |
LOW | NA18906.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0066 | 1 | 439 | 0.0023 | 0 | c.855 others(3): Show |
p.Ala others(6): Show |
ANKRD2 | ENSG00000165887.12 | transcript | ENST00000370655.6 | protein_coding | 9/9 | 865/1171 | 855/1002 | 285/333 | chr10 | TogoVar | |||
ANKRD30A_chr10_37120598_37237567 | 37177323 | GTCTTATT others(11794): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | HG02970.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0069 | 1 | 277 | 0.0036 | -11801 | c.242 others(14): Show |
p.Ser others(13): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 25/36 | 2422/4194 | 808/1397 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||
ANKRD30A_chr10_37120598_37237567 | 37177714 | GCGCATCA others(11794): Show |
G | exon_loss_variant others(4): Show |
HIGH | NA18983.hp2 | a0031 | a0031c0018 | a0031c0018t0001 | a0031c0018t0001g0095 | 1 | 198 | 0.0051 | -11801 | c.242 others(18): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ANKRD30A_chr10_37120598_37237567 | 37193064 | A | G | missense_variant others(1): Show |
MODERATE | HG02630.hp2 HG03209.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0131 a0004c0004t0001g0174 |
2 | 284 | 0.0070 | 0 | c.251 others(4): Show |
p.Glu others(6): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 26/36 | 2703/4664 | 2513/4194 | 838/1397 | chr10 | TogoVar | |||
ANKRD30A_chr10_37120598_37237567 | 37193186 | G | T | missense_variant others(1): Show |
MODERATE | HG03098.hp1 HG03471.hp1 |
a0023a0026 | a0023c0017a0026c0016 | a0023c0017t0001a0026c0016t0001 | a0023c0017t0001g0009 a0026c0016t0001g0023 |
2 | 284 | 0.0070 | 0 | c.254 others(4): Show |
p.Ala others(6): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 27/36 | 2732/4664 | 2542/4194 | 848/1397 | chr10 | TogoVar | |||
ANKRD30A_chr10_37120598_37237567 | 37197484 | C | T | splice_region_variant others(1): Show |
LOW | NA19043.hp2 | a0034 | a0034c0025 | a0034c0025t0001 | a0034c0025t0001g0054 | 1 | 284 | 0.0035 | 0 | c.271 others(6): Show |
ANKRD30A | ENSG00000148513.20 | transcript | ENST00000361713.2 | protein_coding | 29/35 | chr10 | TogoVar | |||||||
ANKRD30A_chr10_37120598_37237567 | 37231448 | GCAATCTT others(37): Show |
G | frameshift_variant others(2): Show |
HIGH | HG02280.hp1 | a0009 | a0009c0028 | a0009c0028t0009 | a0009c0028t0009g0128 | 1 | 284 | 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 | ||||
ANKRD30BL_chr2_132142591_132166952 | 132150975 | C | T | missense_variant others(1): Show |
MODERATE | HG02486.hp2 HG03195.hp1 |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0047 | 2 | 404 | 0.0050 | 0 | c.616 others(3): Show |
p.Val others(6): Show |
ANKRD30BL | ENSG00000163046.16 | transcript | ENST00000409867.6 | protein_coding | 5/6 | 863/1564 | 616/777 | 206/258 | chr2 | TogoVar | |||
ANKRD30BL_chr2_132142591_132166952 | 132154766 | A | C | splice_region_variant others(1): Show |
LOW | NA18956.hp1 | a0005 | a0005c0011 | a0005c0011t0002 | a0005c0011t0002g0151 | 1 | 404 | 0.0025 | 0 | c.510 others(3): Show |
p.Ala others(6): Show |
ANKRD30BL | ENSG00000163046.16 | transcript | ENST00000409867.6 | protein_coding | 4/6 | 757/1564 | 510/777 | 170/258 | chr2 | TogoVar | |||
ANKRD30BL_chr2_132142591_132166952 | 132154767 | G | A | missense_variant others(1): Show |
MODERATE | NA18956.hp1 | a0005 | a0005c0011 | a0005c0011t0002 | a0005c0011t0002g0151 | 1 | 404 | 0.0025 | 0 | c.509 others(3): Show |
p.Ala others(6): Show |
ANKRD30BL | ENSG00000163046.16 | transcript | ENST00000409867.6 | protein_coding | 4/6 | 756/1564 | 509/777 | 170/258 | chr2 | TogoVar | |||
ANKRD30B_chr18_14743172_14859667 | 14764088 | A | G | missense_variant others(1): Show |
MODERATE | HG02622.hp1 | a0031 | a0031c0039 | a0031c0039t0009 | a0031c0039t0009g0228 | 1 | 314 | 0.0032 | 0 | c.122 others(4): Show |
p.Asn others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 7/44 | 1471/5335 | 1223/4578 | 408/1525 | chr18 | TogoVar | |||
ANKRD30B_chr18_14743172_14859667 | 14796215 | G | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(186): Show |
a0001a0004a0007others(23): Show | a0001c0001a0001c0003a0001c0011others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(180): Show |
189 | 314 | 0.6019 | 0 | c.182 others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 16/43 | chr18 | TogoVar | |||||||
ANKRD30B_chr18_14743172_14859667 | 14796335 | C | A | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG02615.hp1 HG02630.hp2 others(3): Show |
a0008a0013a0023 | a0008c0010a0013c0047a0023c0043 | a0008c0010t0001a0008c0010t0008a0013c0047t0001others(1): Show | a0008c0010t0001g0259 a0008c0010t0001g0260 a0008c0010t0008g0008 others(3): Show |
6 | 314 | 0.0191 | 0 | c.185 others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 17/43 | chr18 | TogoVar | |||||||
ANKRD30B_chr18_14743172_14859667 | 14808543 | T | A | splice_region_variant others(1): Show |
LOW | HG02451.hp2 HG02486.hp2 HG02572.hp2 others(4): Show |
a0004 | a0004c0007a0004c0022a0004c0045 | a0004c0007t0001a0004c0022t0001a0004c0045t0010 | a0004c0007t0001g0007 a0004c0007t0001g0297 a0004c0007t0001g0307 others(3): Show |
7 | 314 | 0.0223 | 0 | c.228 others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 24/43 | chr18 | TogoVar | |||||||
ANKRD30B_chr18_14743172_14859667 | 14808748 | A | C | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG02615.hp1 HG02630.hp2 others(3): Show |
a0008a0023a0034 | a0008c0010a0023c0043a0034c0042 | a0008c0010t0001a0008c0010t0008a0023c0043t0001others(1): Show | a0008c0010t0001g0259 a0008c0010t0001g0260 a0008c0010t0008g0008 others(3): Show |
6 | 314 | 0.0191 | 0 | c.238 others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 26/43 | chr18 | TogoVar | |||||||
ANKRD30B_chr18_14743172_14859667 | 14810179 | A | C | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG01243.hp2 |
a0001 | a0001c0036a0001c0059 | a0001c0036t0002a0001c0059t0002 | a0001c0036t0002g0190 a0001c0059t0002g0052 |
2 | 314 | 0.0064 | 0 | c.248 others(4): Show |
p.Ala others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 28/44 | 2735/5335 | 2487/4578 | 829/1525 | chr18 | TogoVar | |||
ANKRD30B_chr18_14743172_14859667 | 14828275 | T | C | splice_region_variant others(1): Show |
LOW | HG02083.hp1 HG02129.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0280 a0001c0001t0003g0281 |
2 | 314 | 0.0064 | 0 | c.274 others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 32/43 | chr18 | TogoVar | |||||||
ANKRD30B_chr18_14743172_14859667 | 14843024 | C | G | missense_variant others(1): Show |
MODERATE | HG01515.hp1 | a0024 | a0024c0056 | a0024c0056t0001 | a0024c0056t0001g0255 | 1 | 314 | 0.0032 | 0 | c.310 others(4): Show |
p.Pro others(7): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 39/44 | 3357/5335 | 3109/4578 | 1037/1525 | chr18 | TogoVar | |||
ANKRD30B_chr18_14743172_14859667 | 14848936 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(164): Show |
a0001a0007a0009others(15): Show | a0001c0001a0001c0003a0001c0011others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(159): Show |
167 | 314 | 0.5318 | 0 | c.339 others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 40/43 | chr18 | TogoVar | |||||||
ANKRD30B_chr18_14743172_14859667 | 14853801 | C | T | splice_region_variant others(1): Show |
LOW | HG01891.hp1 HG02258.hp2 HG02818.hp2 others(4): Show |
a0007a0017a0025 | a0007c0009a0017c0018a0025c0062 | a0007c0009t0007a0017c0018t0005a0025c0062t0001 | a0007c0009t0007g0004 a0007c0009t0007g0224 a0007c0009t0007g0225 others(3): Show |
7 | 314 | 0.0223 | 0 | c.447 others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 42/43 | chr18 | TogoVar | |||||||
ANKRD30B_chr18_14743172_14859667 | 14854178 | CT | C | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG02572.hp2 HG02615.hp1 others(6): Show |
a0001a0004a0008others(2): Show | a0001c0001a0004c0022a0004c0045others(3): Show | a0001c0001t0002a0004c0022t0001a0004c0045t0010others(4): Show | a0001c0001t0002g0071 a0004c0022t0001g0299 a0004c0045t0010g0091 others(6): Show |
9 | 314 | 0.0287 | -1 | c.*34 others(6): Show |
ANKRD30B | ENSG00000180777.15 | transcript | ENST00000690538.1 | protein_coding | 43/43 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ANKRD31_chr5_75063297_75241878 | 75091256 | C | T | splice_region_variant others(1): Show |
LOW | HG01243.hp1 HG03540.hp1 NA20300.hp2 |
a0001 | a0001c0009a0001c0021 | a0001c0009t0001a0001c0021t0001 | a0001c0009t0001g0311 a0001c0009t0001g0312 a0001c0021t0001g0310 |
3 | 332 | 0.0090 | 0 | c.547 others(6): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 23/25 | chr5 | TogoVar | |||||||
ANKRD31_chr5_75063297_75241878 | 75222356 | T | C | missense_variant others(1): Show |
MODERATE | HG00735.hp2 HG01081.hp1 HG01891.hp1 others(9): Show |
a0005a0012 | a0005c0008a0012c0036 | a0005c0008t0001a0005c0008t0010a0012c0036t0001 | a0005c0008t0001g0168 a0005c0008t0001g0171 a0005c0008t0001g0172 others(9): Show |
12 | 332 | 0.0361 | 0 | c.181 others(3): Show |
p.Met others(5): Show |
ANKRD31 | ENSG00000145700.10 | transcript | ENST00000506364.6 | protein_coding | 3/26 | 373/6207 | 181/5793 | 61/1930 | chr5 | TogoVar |