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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMZ1_chr7_2683202_2724683 | 2708588 | A | G | missense_variant others(1): Show |
MODERATE | HG03017.hp2 | a0018 | a0018c0047 | a0018c0047t0139 | a0018c0047t0139g0298 | 1 | 436 | 0.0023 | 0 | c.473 others(3): Show |
p.Asp others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 4/7 | 786/8615 | 473/1497 | 158/498 | chr7 | TogoVar | |||
AMZ1_chr7_2683202_2724683 | 2708590 | G | A | missense_variant others(1): Show |
MODERATE | NA18946.hp1 NA19077.hp2 |
a0009 | a0009c0017 | a0009c0017t0001 | a0009c0017t0001g0256 a0009c0017t0001g0257 |
2 | 436 | 0.0046 | 0 | c.475 others(3): Show |
p.Gly others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 4/7 | 788/8615 | 475/1497 | 159/498 | chr7 | TogoVar | |||
AMZ1_chr7_2683202_2724683 | 2708715 | C | T | splice_region_variant others(1): Show |
LOW | NA18968.hp2 NA18974.hp2 NA19011.hp1 others(4): Show |
a0001 | a0001c0008 | a0001c0008t0034a0001c0008t0035a0001c0008t0046others(1): Show | a0001c0008t0034g0291 a0001c0008t0034g0292 a0001c0008t0035g0290 others(3): Show |
7 | 436 | 0.0161 | 0 | c.600 others(3): Show |
p.His others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 4/7 | 913/8615 | 600/1497 | 200/498 | chr7 | TogoVar | |||
ANAPC11_chr17_81886723_81905255 | 81894460 | G | A | splice_region_variant others(1): Show |
LOW | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 310 | 0.0032 | 0 | c.-11 others(5): Show |
ANAPC11 | ENSG00000141552.18 | transcript | ENST00000344877.10 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
ANAPC11_chr17_81886723_81905255 | 81894463 | G | A | splice_region_variant others(1): Show |
LOW | HG01891.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0046 |
2 | 310 | 0.0065 | 0 | c.-11 others(5): Show |
ANAPC11 | ENSG00000141552.18 | transcript | ENST00000344877.10 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
ANAPC13_chr3_134472706_134490985 | 134485954 | G | A | splice_region_variant | LOW | HG01167.hp2 HG01169.hp1 HG02630.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 a0001c0001t0002g0052 a0001c0001t0002g0053 |
13 | 392 | 0.0332 | 0 | c.-30 others(3): Show |
ANAPC13 | ENSG00000129055.13 | transcript | ENST00000354910.10 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
ANAPC15_chr11_72104587_72117695 | 72111496 | T | C | splice_region_variant | LOW | NA19089.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 406 | 0.0025 | 0 | c.-95 others(3): Show |
ANAPC15 | ENSG00000110200.9 | transcript | ENST00000227618.9 | protein_coding | 2/6 | chr11 | TogoVar | |||||||
ANAPC16_chr10_72211012_72240860 | 72223880 | C | G | splice_region_variant others(1): Show |
LOW | NA18946.hp1 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0037 a0001c0001t0003g0045 |
2 | 350 | 0.0057 | 0 | c.-27 others(5): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1/3 | chr10 | TogoVar | |||||||
ANAPC1_chr2_111762640_111889193 | 111772473 | C | T | missense_variant others(1): Show |
MODERATE | HG03139.hp2 | a0005 | a0005c0023 | a0005c0023t0003 | a0005c0023t0003g0338 | 1 | 368 | 0.0027 | 0 | c.558 others(4): Show |
p.Gly others(7): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 47/48 | 5863/7762 | 5587/5835 | 1863/1944 | chr2 | TogoVar | |||
ANAPC1_chr2_111762640_111889193 | 111794080 | C | T | missense_variant others(1): Show |
MODERATE | NA18943.hp1 | a0011 | a0011c0025 | a0011c0025t0001 | a0011c0025t0001g0073 | 1 | 368 | 0.0027 | 0 | c.451 others(4): Show |
p.Val others(7): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 37/48 | 4792/7762 | 4516/5835 | 1506/1944 | chr2 | TogoVar | |||
ANAPC1_chr2_111762640_111889193 | 111802513 | G | A | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00544.hp2 HG00609.hp2 others(58): Show |
a0001a0004a0009 | a0001c0003a0001c0007a0001c0010others(3): Show | a0001c0003t0004a0001c0003t0018a0001c0003t0019others(6): Show | a0001c0003t0004g0262 a0001c0003t0004g0263 a0001c0003t0004g0264 others(58): Show |
61 | 368 | 0.1658 | 0 | c.414 others(6): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 32/47 | chr2 | TogoVar | |||||||
ANAPC1_chr2_111762640_111889193 | 111808940 | C | T | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00544.hp2 HG00609.hp2 others(55): Show |
a0001a0004a0009 | a0001c0003a0001c0007a0001c0017others(2): Show | a0001c0003t0004a0001c0003t0018a0001c0003t0019others(5): Show | a0001c0003t0004g0262 a0001c0003t0004g0263 a0001c0003t0004g0264 others(55): Show |
58 | 368 | 0.1576 | 0 | c.383 others(6): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 29/47 | chr2 | TogoVar | |||||||
ANAPC1_chr2_111762640_111889193 | 111847725 | C | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(197): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0003a0001c0004others(14): Show | a0001c0002t0002a0001c0002t0004a0001c0003t0004others(22): Show | a0001c0002t0002g0001 a0001c0002t0002g0150 a0001c0002t0002g0151 others(194): Show |
200 | 368 | 0.5435 | 0 | c.179 others(4): Show |
p.Leu others(6): Show |
ANAPC1 | ENSG00000153107.13 | transcript | ENST00000341068.8 | protein_coding | 15/48 | 2067/7762 | 1791/5835 | 597/1944 | chr2 | TogoVar | |||
ANAPC2_chr9_137169784_137193560 | 137175837 | C | T | missense_variant others(1): Show |
MODERATE | HG02145.hp2 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0151 | 1 | 414 | 0.0024 | 0 | c.189 others(4): Show |
p.Ala others(6): Show |
ANAPC2 | ENSG00000176248.9 | transcript | ENST00000323927.3 | protein_coding | 11/13 | 1919/2655 | 1891/2469 | 631/822 | chr9 | TogoVar | |||
ANAPC4_chr4_25372263_25423498 | 25394379 | TAAACTC | T | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00741.hp1 HG01192.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0001 | a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0068 others(19): Show |
28 | 454 | 0.0617 | -6 | c.941 others(18): Show |
ANAPC4 | ENSG00000053900.11 | transcript | ENST00000315368.8 | protein_coding | 12/28 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ANAPC5_chr12_121303245_121357411 | 121318431 | G | A | splice_region_variant others(1): Show |
LOW | HG06807.hp1 NA19002.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0002 | a0001c0001t0001g0138 a0001c0008t0002g0232 |
2 | 276 | 0.0072 | 0 | c.174 others(6): Show |
ANAPC5 | ENSG00000089053.13 | transcript | ENST00000261819.8 | protein_coding | 14/16 | chr12 | TogoVar | |||||||
ANAPC5_chr12_121303245_121357411 | 121330680 | G | C | splice_region_variant others(1): Show |
LOW | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 276 | 0.0036 | 0 | c.103 others(6): Show |
ANAPC5 | ENSG00000089053.13 | transcript | ENST00000261819.8 | protein_coding | 8/16 | chr12 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110381954 | G | GA | splice_region_variant others(1): Show |
LOW | HG00597.hp1 HG01516.hp2 HG01884.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0077 a0001c0001t0001g0109 a0001c0001t0001g0156 others(9): Show |
12 | 153 | 0.0784 | 1 | c.936 others(6): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110381954 | GA | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(116): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 others(115): Show |
119 | 260 | 0.4577 | -1 | c.936 others(6): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110381954 | GAA | G | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG01167.hp2 HG01175.hp1 others(20): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0242 a0001c0001t0001g0243 others(17): Show |
23 | 164 | 0.1402 | -2 | c.936 others(13): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110381955 | A | G | splice_region_variant others(1): Show |
LOW | HG00558.hp2 HG01071.hp1 HG01081.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0023 others(12): Show |
15 | 296 | 0.0507 | 0 | c.936 others(5): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
ANAPC7_chr12_110367900_110408708 | 110381956 | A | G | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00323.hp2 HG00642.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 others(30): Show |
33 | 296 | 0.1115 | 0 | c.936 others(5): Show |
ANAPC7 | ENSG00000196510.14 | transcript | ENST00000455511.9 | protein_coding | 7/10 | chr12 | TogoVar | |||||||
ANGEL1_chr14_76781009_76817882 | 76791293 | T | C | splice_region_variant others(1): Show |
LOW | HG02300.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0209 | 1 | 394 | 0.0025 | 0 | c.168 others(6): Show |
ANGEL1 | ENSG00000013523.11 | transcript | ENST00000251089.8 | protein_coding | 8/9 | chr14 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107303234 | T | C | splice_region_variant others(1): Show |
LOW | HG02004.hp2 HG02258.hp1 HG02559.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0084 a0001c0001t0001g0127 a0001c0001t0002g0100 others(13): Show |
17 | 290 | 0.0586 | 0 | c.936 others(5): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 5/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107303371 | C | CA | splice_region_variant others(1): Show |
LOW | HG00280.hp2 HG00408.hp2 HG00597.hp2 others(68): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0025 a0001c0001t0001g0030 others(68): Show |
71 | 258 | 0.2752 | 1 | c.809 others(6): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
ANGPT1_chr8_107244482_107502918 | 107303371 | C | CAA | splice_region_variant others(1): Show |
LOW | HG00738.hp1 HG01167.hp1 HG01891.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0027 a0001c0001t0001g0033 a0001c0001t0001g0125 others(23): Show |
26 | 213 | 0.1221 | 2 | c.809 others(13): Show |
ANGPT1 | ENSG00000154188.10 | transcript | ENST00000517746.6 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
ANGPT2_chr8_6494632_6568245 | 6521170 | A | G | splice_region_variant others(1): Show |
LOW | HG00735.hp1 HG02258.hp1 HG02615.hp1 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0011others(3): Show | a0001c0002t0003a0001c0003t0040a0001c0011t0013others(6): Show | a0001c0002t0003g0187 a0001c0003t0040g0230 a0001c0011t0013g0185 others(8): Show |
11 | 334 | 0.0329 | 0 | c.799 others(5): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
ANGPT2_chr8_6494632_6568245 | 6532326 | A | C | splice_region_variant others(1): Show |
LOW | NA18978.hp1 | a0007 | a0007c0024 | a0007c0024t0001 | a0007c0024t0001g0076 | 1 | 334 | 0.0030 | 0 | c.444 others(5): Show |
ANGPT2 | ENSG00000091879.14 | transcript | ENST00000629816.3 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
ANGPT4_chr20_864900_921334 | 915902 | G | A | splice_region_variant others(1): Show |
LOW | HG03209.hp2 NA19240.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0008a0001c0008t0002 | a0001c0002t0008g0400 a0001c0008t0002g0399 |
2 | 430 | 0.0047 | 0 | c.309 others(5): Show |
ANGPT4 | ENSG00000101280.8 | transcript | ENST00000381922.5 | protein_coding | 1/8 | chr20 | TogoVar | |||||||
ANGPTL1_chr1_178844535_178876077 | 178869106 | ATACTTAC others(30): Show |
A | splice_donor_variant others(3): Show |
HIGH | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0292 | 1 | 422 | 0.0024 | -37 | c.-56 others(46): Show |
ANGPTL1 | ENSG00000116194.13 | transcript | ENST00000234816.7 | protein_coding | 2/6 | 3331 | chr1 | TogoVar | ||||||
ANGPTL4_chr19_8359155_8379370 | 8366196 | TC | T | splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02922.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 5 | 406 | 0.0123 | -1 | c.430 others(6): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ANGPTL4_chr19_8359155_8379370 | 8369216 | C | T | splice_region_variant others(1): Show |
LOW | HG02109.hp2 HG02922.hp2 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 5 | 406 | 0.0123 | 0 | c.548 others(5): Show |
ANGPTL4 | ENSG00000167772.12 | transcript | ENST00000301455.7 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ANGPTL5_chr11_101885674_101921522 | 101894873 | T | A | splice_region_variant others(1): Show |
LOW | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(65): Show |
a0001a0005a0007others(1): Show | a0001c0001a0005c0005a0007c0008others(1): Show | a0001c0001t0001a0001c0001t0008a0005c0005t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0022 others(38): Show |
68 | 420 | 0.1619 | 0 | c.847 others(5): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 8/8 | chr11 | TogoVar | |||||||
ANGPTL5_chr11_101885674_101921522 | 101904810 | T | A | splice_region_variant others(1): Show |
LOW | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 420 | 0.0024 | 0 | c.439 others(5): Show |
ANGPTL5 | ENSG00000187151.7 | transcript | ENST00000334289.7 | protein_coding | 5/8 | chr11 | TogoVar | |||||||
ANGPTL6_chr19_10087338_10107678 | 10094942 | G | A | splice_region_variant others(1): Show |
LOW | HG01106.hp2 HG01975.hp2 HG02080.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0017 a0001c0003t0001g0053 a0001c0003t0001g0054 |
7 | 460 | 0.0152 | 0 | c.583 others(5): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ANGPTL6_chr19_10087338_10107678 | 10095974 | G | A | splice_region_variant others(1): Show |
LOW | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 460 | 0.0022 | 0 | c.582 others(5): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ANGPTL6_chr19_10087338_10107678 | 10101606 | AAGACCAG others(2278): Show |
A | splice_donor_variant others(4): Show |
HIGH | HG00099.hp2 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0133 a0001c0001t0003g0134 |
2 | 460 | 0.0043 | -2285 | c.-13 others(13): Show |
ANGPTL6 | ENSG00000130812.11 | transcript | ENST00000253109.5 | protein_coding | 1/6 | chr19 | TogoVar | |||||||
ANHX_chr12_133213312_133240877 | 133219374 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(298): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0006a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(160): Show |
301 | 440 | 0.6841 | 0 | c.128 others(6): Show |
ANHX | ENSG00000227059.7 | transcript | ENST00000545940.6 | protein_coding | 8/9 | chr12 | TogoVar | |||||||
ANK1_chr8_41648225_41802622 | 41661944 | A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(209): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0003others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(73): Show | a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0151 others(208): Show |
212 | 276 | 0.7681 | 0 | c.547 others(6): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 40/42 | chr8 | TogoVar | |||||||
ANK1_chr8_41648225_41802622 | 41683253 | GCACGATA others(1276): Show |
G | splice_region_variant others(1): Show |
LOW | HG02040.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0227 | 1 | 276 | 0.0036 | -1283 | c.453 others(16): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 37/42 | chr8 | TogoVar | |||||||
ANK1_chr8_41648225_41802622 | 41723118 | T | C | splice_region_variant others(1): Show |
LOW | HG00323.hp2 HG00639.hp1 HG00738.hp1 others(5): Show |
a0001a0003a0010 | a0001c0051a0001c0052a0003c0014others(2): Show | a0001c0051t0008a0001c0052t0001a0003c0014t0002others(3): Show | a0001c0051t0008g0273 a0001c0052t0001g0235 a0003c0014t0002g0198 others(5): Show |
8 | 276 | 0.0290 | 0 | c.909 others(5): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 9/42 | chr8 | TogoVar | |||||||
ANK1_chr8_41648225_41802622 | 41727905 | T | C | splice_region_variant others(1): Show |
LOW | HG02723.hp2 | a0001 | a0001c0046 | a0001c0046t0030 | a0001c0046t0030g0276 | 1 | 276 | 0.0036 | 0 | c.327 others(5): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 4/42 | chr8 | TogoVar | |||||||
ANK2_chr4_113044653_113388736 | 113278566 | C | G | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG03453.hp1 |
a0002a0003 | a0002c0035a0003c0034 | a0002c0035t0001a0003c0034t0001 | a0002c0035t0001g0169 a0003c0034t0001g0056 |
2 | 176 | 0.0114 | 0 | c.188 others(6): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 17/45 | chr4 | TogoVar | |||||||
ANK2_chr4_113044653_113388736 | 113293432 | C | T | splice_region_variant others(1): Show |
LOW | HG01175.hp1 HG01346.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167 a0002c0002t0001g0168 |
2 | 176 | 0.0114 | 0 | c.237 others(6): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 21/45 | chr4 | TogoVar | |||||||
ANK2_chr4_113044653_113388736 | 113348277 | A | G | missense_variant others(1): Show |
MODERATE | HG00639.hp2 | a0012 | a0012c0021 | a0012c0021t0001 | a0012c0021t0001g0070 | 1 | 176 | 0.0057 | 0 | c.437 others(4): Show |
p.Glu others(7): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 36/46 | 4449/14215 | 4373/11874 | 1458/3957 | chr4 | TogoVar | |||
ANK3_chr10_60021298_60394875 | 60082740 | A | G | splice_region_variant others(1): Show |
LOW | HG01515.hp2 HG02145.hp2 HG02451.hp1 others(10): Show |
a0001a0003a0004others(2): Show | a0001c0055a0001c0056a0001c0084others(7): Show | a0001c0055t0015a0001c0056t0005a0001c0084t0054others(10): Show | a0001c0055t0015g0130 a0001c0056t0005g0039 a0001c0084t0054g0038 others(10): Show |
13 | 190 | 0.0684 | 0 | c.420 others(6): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 33/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60086890 | G | A | splice_region_variant others(1): Show |
LOW | HG03098.hp1 | a0001 | a0001c0084 | a0001c0084t0054 | a0001c0084t0054g0038 | 1 | 190 | 0.0053 | 0 | c.354 others(6): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 29/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60172894 | G | T | splice_region_variant others(1): Show |
LOW | HG02615.hp1 HG02717.hp1 HG02723.hp1 others(4): Show |
a0001a0011 | a0001c0001a0001c0015a0011c0053 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0133 a0001c0001t0002g0080 a0001c0001t0006g0003 others(4): Show |
7 | 190 | 0.0368 | 0 | c.238 others(6): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 20/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60196628 | G | GA | splice_region_variant others(1): Show |
LOW | HG00323.hp1 HG01070.hp1 HG01071.hp1 others(23): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(22): Show | a0001c0001t0001g0065 a0001c0001t0007g0166 a0001c0001t0009g0016 others(23): Show |
26 | 166 | 0.1566 | 1 | c.169 others(7): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 14/43 | chr10 | TogoVar | |||||||
ANK3_chr10_60021298_60394875 | 60196628 | G | GAAA | splice_region_variant others(1): Show |
LOW | HG01123.hp1 HG02083.hp1 HG02451.hp2 others(17): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0007a0001c0039others(13): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0026others(16): Show | a0001c0001t0001g0125 a0001c0001t0008g0047 a0001c0001t0026g0073 others(17): Show |
20 | 160 | 0.1250 | 3 | c.169 others(16): Show |
ANK3 | ENSG00000151150.22 | transcript | ENST00000280772.7 | protein_coding | 14/43 | chr10 | TogoVar |