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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JUP_chr17_41749609_41791711 | 41755842 | G | GCGGGTCA others(74): Show |
conservative_inframe_insertion | MODERATE | HG00408.hp1 | a0004 | a0004c0018 | a0004c0018t0004 | a0004c0018t0004g0051 | 1 | 410 | 0.0024 | 81 | c.208 others(93): Show |
p.Pro others(94): Show |
JUP | ENSG00000173801.17 | transcript | ENST00000393931.8 | protein_coding | 14/14 | 2271/3505 | 2139/2238 | 713/745 | chr17 | TogoVar | |||
KAT2A_chr17_42108111_42126367 | 42120260 | T | TCACCTTG others(29): Show |
conservative_inframe_insertion | MODERATE | NA19011.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0047 | 1 | 352 | 0.0028 | 36 | c.573 others(43): Show |
p.Asp others(49): Show |
KAT2A | ENSG00000108773.11 | transcript | ENST00000225916.10 | protein_coding | 3/18 | 636/3115 | 573/2514 | 191/837 | chr17 | TogoVar | |||
KCNA3_chr1_110667465_110679940 | 110674559 | T | TCGCAGCC others(8): Show |
conservative_inframe_insertion | MODERATE | HG01934.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0000 | 1 | 430 | 0.0023 | 15 | c.236 others(22): Show |
p.Gly others(11): Show |
KCNA3 | ENSG00000177272.10 | transcript | ENST00000369769.4 | protein_coding | 1/1 | 381/2476 | 250/1728 | 84/575 | chr1 | TogoVar | |||
KCNG4_chr16_84213657_84245012 | 84236959 | G | GCCAGCTC others(2): Show |
conservative_inframe_insertion | MODERATE | HG00280.hp2 HG00423.hp2 HG02083.hp2 others(8): Show |
a0010a0012 | a0010c0018a0010c0053a0012c0021others(1): Show | a0010c0018t0002a0010c0018t0017a0010c0053t0017others(5): Show | a0010c0018t0002g0025 a0010c0018t0002g0104 a0010c0018t0002g0106 others(7): Show |
11 | 469 | 0.0235 | 9 | c.518 others(16): Show |
p.Glu others(13): Show |
KCNG4 | ENSG00000168418.8 | transcript | ENST00000308251.6 | protein_coding | 2/3 | 909/5503 | 526/1560 | 176/519 | chr16 | TogoVar | |||
KCNK15_chr20_44740865_44757313 | 44750598 | C | CGACTGGC others(104): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp2 HG02735.hp1 NA20905.hp2 |
a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0017 | 3 | 420 | 0.0071 | 111 | c.777 others(118): Show |
p.Arg others(124): Show |
KCNK15 | ENSG00000124249.7 | transcript | ENST00000372861.5 | protein_coding | 2/2 | 824/2514 | 778/993 | 260/330 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCT | conservative_inframe_insertion | MODERATE | HG01099.hp2 HG02451.hp1 HG02723.hp1 others(1): Show |
a0009 | a0009c0028a0009c0029 | a0009c0028t0016a0009c0028t0026a0009c0029t0005others(1): Show | a0009c0028t0016g0193 a0009c0028t0026g0191 a0009c0029t0005g0192 others(1): Show |
4 | 16 | 0.2500 | 3 | c.239 others(10): Show |
p.Gln others(5): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 241/2196 | 81/731 | chr1 | TogoVar | |||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCT | conservative_inframe_insertion | MODERATE | HG02004.hp1 HG02257.hp2 HG03453.hp2 others(1): Show |
a0010 | a0010c0018a0010c0032 | a0010c0018t0009a0010c0018t0013a0010c0018t0090others(1): Show | a0010c0018t0009g0188 a0010c0018t0013g0187 a0010c0018t0090g0189 others(1): Show |
4 | 16 | 0.2500 | 6 | c.236 others(13): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 241/2196 | 81/731 | chr1 | TogoVar | |||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCTG others(2): Show |
conservative_inframe_insertion | MODERATE | HG00735.hp1 HG00738.hp1 HG00738.hp2 others(32): Show |
a0003 | a0003c0003a0003c0007a0003c0027 | a0003c0003t0001a0003c0003t0003a0003c0003t0006others(27): Show | a0003c0003t0001g0168 a0003c0003t0001g0182 a0003c0003t0003g0184 others(32): Show |
35 | 47 | 0.7447 | 9 | c.233 others(16): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 241/2196 | 81/731 | chr1 | TogoVar | |||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCTG others(5): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp2 HG01074.hp1 HG01106.hp2 others(39): Show |
a0002a0016 | a0002c0002a0002c0009a0002c0010others(1): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0004others(32): Show | a0002c0002t0001g0124 a0002c0002t0003g0123 a0002c0002t0003g0133 others(39): Show |
42 | 54 | 0.7778 | 12 | c.230 others(19): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 241/2196 | 81/731 | chr1 | TogoVar | |||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCTG others(8): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp1 HG00280.hp2 HG00621.hp2 others(67): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(45): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0058 others(67): Show |
70 | 82 | 0.8537 | 15 | c.227 others(22): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 241/2196 | 81/731 | chr1 | TogoVar | |||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCTG others(11): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp1 HG00621.hp1 HG00741.hp1 others(24): Show |
a0004 | a0004c0005a0004c0006a0004c0014 | a0004c0005t0001a0004c0005t0004a0004c0005t0007others(20): Show | a0004c0005t0001g0050 a0004c0005t0004g0040 a0004c0005t0004g0046 others(24): Show |
27 | 39 | 0.6923 | 18 | c.224 others(25): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 241/2196 | 81/731 | chr1 | TogoVar | |||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCTG others(14): Show |
conservative_inframe_insertion | MODERATE | HG01081.hp1 HG01517.hp2 HG01884.hp1 others(10): Show |
a0006 | a0006c0012a0006c0013a0006c0026others(1): Show | a0006c0012t0001a0006c0012t0005a0006c0012t0009others(10): Show | a0006c0012t0001g0013 a0006c0012t0005g0016 a0006c0012t0009g0012 others(10): Show |
13 | 25 | 0.5200 | 21 | c.221 others(28): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 241/2196 | 81/731 | chr1 | TogoVar | |||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCTG others(17): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp2 HG03098.hp2 |
a0012 | a0012c0025 | a0012c0025t0010a0012c0025t0028 | a0012c0025t0010g0010 a0012c0025t0028g0009 |
2 | 14 | 0.1429 | 24 | c.218 others(31): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 241/2196 | 81/731 | chr1 | TogoVar | |||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCTG others(20): Show |
conservative_inframe_insertion | MODERATE | HG02055.hp2 HG02683.hp1 HG02976.hp2 others(1): Show |
a0011 | a0011c0023a0011c0024 | a0011c0023t0067a0011c0023t0120a0011c0024t0012others(1): Show | a0011c0023t0067g0007 a0011c0023t0120g0237 a0011c0024t0012g0008 others(1): Show |
4 | 16 | 0.2500 | 27 | c.215 others(34): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 241/2196 | 81/731 | chr1 | TogoVar | |||
KCNN3_chr1_154692455_154875281 | 154869723 | G | GGCTGCTG others(23): Show |
conservative_inframe_insertion | MODERATE | HG03490.hp1 HG03492.hp1 |
a0013 | a0013c0022 | a0013c0022t0004a0013c0022t0021 | a0013c0022t0004g0005 a0013c0022t0021g0004 |
2 | 14 | 0.1429 | 30 | c.212 others(37): Show |
p.Gln others(11): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 1/8 | 558/13034 | 241/2196 | 81/731 | chr1 | TogoVar | |||
KCNQ1_chr11_2440008_2854105 | 2445250 | A | ACGCGCCC others(2): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp1 HG03041.hp2 HG03225.hp1 others(1): Show |
a0003 | a0003c0006a0003c0010 | a0003c0006t0001a0003c0006t0004a0003c0006t0010others(1): Show | a0003c0006t0001g0008 a0003c0006t0004g0011 a0003c0006t0010g0012 others(1): Show |
4 | 206 | 0.0194 | 9 | c.160 others(16): Show |
p.Ile others(11): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 1/16 | 260/3224 | 169/2031 | 57/676 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
KCP_chr7_128871865_128915709 | 128891497 | G | GCTC | conservative_inframe_insertion | MODERATE | HG01496.hp1 HG01496.hp2 HG01515.hp2 |
a0015 | a0015c0018 | a0015c0018t0001a0015c0018t0002 | a0015c0018t0001g0230 a0015c0018t0001g0259 a0015c0018t0002g0231 |
3 | 370 | 0.0081 | 3 | c.182 others(12): Show |
p.Gly others(6): Show |
KCP | ENSG00000135253.16 | transcript | ENST00000610776.5 | protein_coding | 18/40 | 1864/5098 | 1831/4887 | 611/1628 | chr7 | TogoVar | |||
KIAA0040_chr1_175151986_175197776 | 175160788 | C | CCTT | conservative_inframe_insertion | MODERATE | HG00099.hp1 HG00438.hp1 HG00544.hp2 others(68): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0015a0003c0003t0016others(7): Show | a0003c0003t0002g0005 a0003c0003t0002g0008 a0003c0003t0002g0010 others(41): Show |
71 | 269 | 0.2639 | 3 | c.223 others(10): Show |
p.Lys others(5): Show |
KIAA0040 | ENSG00000235750.10 | transcript | ENST00000423313.6 | protein_coding | 4/4 | 745/4548 | 225/300 | 75/99 | chr1 | TogoVar | |||
KIAA0040_chr1_175151986_175197776 | 175160788 | C | CCTTCTT | conservative_inframe_insertion | MODERATE | HG01081.hp2 HG02132.hp2 NA18998.hp2 |
a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0028 a0006c0007t0002g0141 |
3 | 201 | 0.0149 | 6 | c.220 others(13): Show |
p.Lys others(11): Show |
KIAA0040 | ENSG00000235750.10 | transcript | ENST00000423313.6 | protein_coding | 4/4 | 745/4548 | 225/300 | 75/99 | chr1 | TogoVar | |||
KIAA0040_chr1_175151986_175197776 | 175160788 | C | CCTTCTTC others(2): Show |
conservative_inframe_insertion | MODERATE | HG02055.hp2 HG02572.hp1 HG02630.hp1 others(4): Show |
a0005 | a0005c0006 | a0005c0006t0002a0005c0006t0016a0005c0006t0036others(3): Show | a0005c0006t0002g0085 a0005c0006t0016g0114 a0005c0006t0036g0213 others(4): Show |
7 | 205 | 0.0341 | 9 | c.217 others(16): Show |
p.Lys others(11): Show |
KIAA0040 | ENSG00000235750.10 | transcript | ENST00000423313.6 | protein_coding | 4/4 | 745/4548 | 225/300 | 75/99 | chr1 | TogoVar | |||
KLF18_chr1_44132821_44146631 | 44139048 | T | TCTGGTTA others(38): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(368): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0010a0001c0012others(16): Show | a0001c0001t0001a0001c0010t0001a0001c0012t0001others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0010t0001g0010 others(17): Show |
371 | 424 | 0.8750 | 45 | c.258 others(54): Show |
p.Gln others(58): Show |
KLF18 | ENSG00000283039.1 | transcript | ENST00000634670.1 | protein_coding | 1/2 | 2583/3159 | 2583/3159 | 861/1052 | chr1 | TogoVar | |||
KLF18_chr1_44132821_44146631 | 44139048 | T | TCTGGTTA others(38): Show |
conservative_inframe_insertion | MODERATE | NA18939.hp1 | a0018 | a0018c0022 | a0018c0022t0001 | a0018c0022t0001g0023 | 1 | 54 | 0.0185 | 45 | c.258 others(54): Show |
p.Gln others(58): Show |
KLF18 | ENSG00000283039.1 | transcript | ENST00000634670.1 | protein_coding | 1/2 | 2583/3159 | 2583/3159 | 861/1052 | chr1 | TogoVar | |||
KLF18_chr1_44132821_44146631 | 44139048 | T | TCTGGTTA others(38): Show |
conservative_inframe_insertion | MODERATE | HG02523.hp1 | a0002 | a0002c0023 | a0002c0023t0001 | a0002c0023t0001g0024 | 1 | 54 | 0.0185 | 45 | c.258 others(54): Show |
p.Gln others(58): Show |
KLF18 | ENSG00000283039.1 | transcript | ENST00000634670.1 | protein_coding | 1/2 | 2583/3159 | 2583/3159 | 861/1052 | chr1 | TogoVar | |||
KRT10_chr17_40813117_40827614 | 40818851 | A | AGCTGCCG others(23): Show |
conservative_inframe_insertion | MODERATE | HG00423.hp2 HG00438.hp2 HG00621.hp2 others(91): Show |
a0002a0008a0009others(3): Show | a0002c0002a0008c0010a0009c0011others(3): Show | a0002c0002t0001a0002c0002t0005a0008c0010t0001others(4): Show | a0002c0002t0001g0002 a0002c0002t0005g0018 a0008c0010t0001g0010 others(4): Show |
94 | 373 | 0.2520 | 30 | c.165 others(39): Show |
p.Ser others(43): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 7/8 | 1712/2143 | 1683/1755 | 561/584 | chr17 | TogoVar | |||
KRT10_chr17_40813117_40827614 | 40818851 | A | AGCTGCCG others(53): Show |
conservative_inframe_insertion | MODERATE | HG00438.hp1 HG01081.hp2 HG01109.hp1 others(38): Show |
a0006a0007 | a0006c0006a0007c0008 | a0006c0006t0001a0007c0008t0001 | a0006c0006t0001g0004 a0007c0008t0001g0009 |
41 | 320 | 0.1281 | 60 | c.168 others(69): Show |
p.Ser others(73): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 7/8 | 1712/2143 | 1683/1755 | 561/584 | chr17 | TogoVar | |||
KRT10_chr17_40813117_40827614 | 40818851 | A | AGCTGCCG others(83): Show |
conservative_inframe_insertion | MODERATE | HG00280.hp2 HG02280.hp2 HG02451.hp1 others(7): Show |
a0007a0021 | a0007c0007a0021c0028 | a0007c0007t0001a0021c0028t0001 | a0007c0007t0001g0008 a0021c0028t0001g0039 |
10 | 289 | 0.0346 | 90 | c.168 others(99): Show |
p.Ser others(103): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 7/8 | 1712/2143 | 1683/1755 | 561/584 | chr17 | TogoVar | |||
KRT10_chr17_40813117_40827614 | 40818859 | C | CCGCCGTA others(23): Show |
conservative_inframe_insertion | MODERATE | HG03654.hp1 | a0019 | a0019c0026 | a0019c0026t0001 | a0019c0026t0001g0036 | 1 | 424 | 0.0024 | 30 | c.167 others(39): Show |
p.Gly others(43): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 7/8 | 1704/2143 | 1675/1755 | 559/584 | chr17 | TogoVar | |||
KRT10_chr17_40813117_40827614 | 40818878 | A | AGCT | conservative_inframe_insertion | MODERATE | HG02965.hp2 HG03209.hp1 HG03471.hp1 |
a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0015 | 3 | 424 | 0.0071 | 3 | c.165 others(12): Show |
p.Ser others(6): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 7/8 | 1685/2143 | 1656/1755 | 552/584 | chr17 | TogoVar | |||
KRT10_chr17_40813117_40827614 | 40818962 | T | TGCCGCCG others(20): Show |
conservative_inframe_insertion | MODERATE | HG00639.hp2 HG00741.hp2 HG01069.hp2 others(23): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0006 a0004c0004t0001g0037 |
26 | 424 | 0.0613 | 27 | c.154 others(36): Show |
p.Gly others(40): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 7/8 | 1601/2143 | 1572/1755 | 524/584 | chr17 | TogoVar | |||
KRT13_chr17_41495981_41510612 | 41505525 | G | GGGGAGGC others(23): Show |
conservative_inframe_insertion | MODERATE | HG03710.hp1 | a0014 | a0014c0013 | a0014c0013t0001 | a0014c0013t0001g0038 | 1 | 468 | 0.0021 | 30 | c.25_ others(35): Show |
p.Ser others(40): Show |
KRT13 | ENSG00000171401.15 | transcript | ENST00000246635.8 | protein_coding | 1/8 | 87/1714 | 25/1377 | 9/458 | chr17 | TogoVar | |||
KRT3_chr12_52784685_52801117 | 52790167 | C | CGCTGCCA others(14): Show |
conservative_inframe_insertion | MODERATE | HG00741.hp1 HG01070.hp2 HG01071.hp1 others(26): Show |
a0006a0008a0009others(3): Show | a0006c0006a0006c0016a0008c0010others(4): Show | a0006c0006t0001a0006c0016t0001a0008c0010t0001others(4): Show | a0006c0006t0001g0013 a0006c0006t0001g0018 a0006c0006t0001g0055 others(9): Show |
29 | 452 | 0.0642 | 21 | c.174 others(30): Show |
p.Ser others(34): Show |
KRT3 | ENSG00000186442.7 | transcript | ENST00000417996.2 | protein_coding | 9/9 | 1836/2319 | 1761/1887 | 587/628 | chr12 | TogoVar | |||
KRT4_chr12_52801549_52819116 | 52813799 | C | CCACCAAA others(35): Show |
conservative_inframe_insertion | MODERATE | HG01167.hp2 HG01169.hp1 |
a0002 | a0002c0010 | a0002c0010t0001 | a0002c0010t0001g0034 | 2 | 20 | 0.1000 | 42 | c.259 others(49): Show |
p.Gly others(53): Show |
KRT4 | ENSG00000170477.13 | transcript | ENST00000551956.2 | protein_coding | 1/9 | 317/2141 | 259/1563 | 87/520 | chr12 | TogoVar | |||
KRT4_chr12_52801549_52819116 | 52813799 | C | CCACCAAA others(35): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(442): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(57): Show |
445 | 463 | 0.9611 | 42 | c.259 others(49): Show |
p.Gly others(53): Show |
KRT4 | ENSG00000170477.13 | transcript | ENST00000551956.2 | protein_coding | 1/9 | 317/2141 | 259/1563 | 87/520 | chr12 | TogoVar | |||
KRT4_chr12_52801549_52819116 | 52813799 | C | CCACCAAA others(35): Show |
conservative_inframe_insertion | MODERATE | NA19054.hp1 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0035 | 1 | 19 | 0.0526 | 42 | c.259 others(49): Show |
p.Gly others(53): Show |
KRT4 | ENSG00000170477.13 | transcript | ENST00000551956.2 | protein_coding | 1/9 | 317/2141 | 259/1563 | 87/520 | chr12 | TogoVar | |||
KRT4_chr12_52801549_52819116 | 52813799 | C | CCACCAAA others(35): Show |
conservative_inframe_insertion | MODERATE | HG01074.hp2 HG01081.hp1 |
a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0027 | 2 | 20 | 0.1000 | 42 | c.259 others(49): Show |
p.Gly others(53): Show |
KRT4 | ENSG00000170477.13 | transcript | ENST00000551956.2 | protein_coding | 1/9 | 317/2141 | 259/1563 | 87/520 | chr12 | TogoVar | |||
KRT76_chr12_52763155_52782345 | 52768988 | C | CGCT | conservative_inframe_insertion | MODERATE | HG01167.hp2 HG01169.hp1 HG02257.hp1 others(13): Show |
a0005a0009 | a0005c0005a0005c0014a0009c0016 | a0005c0005t0001a0005c0014t0001a0009c0016t0001 | a0005c0005t0001g0007 a0005c0005t0001g0028 a0005c0005t0001g0029 others(5): Show |
16 | 438 | 0.0365 | 3 | c.164 others(12): Show |
p.Ser others(6): Show |
KRT76 | ENSG00000185069.2 | transcript | ENST00000332411.2 | protein_coding | 9/9 | 1695/2529 | 1641/1917 | 547/638 | chr12 | TogoVar | |||
KRTAP1-1_chr17_41035541_41046450 | 41041286 | G | GTGGCTGG others(23): Show |
conservative_inframe_insertion | MODERATE | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 402 | 0.0025 | 30 | c.82_ others(36): Show |
p.Pro others(41): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 1/1 | 164/910 | 111/534 | 37/177 | chr17 | TogoVar | |||
KRTAP1-3_chr17_41028884_41039874 | 41034721 | C | CAGCTGGT others(23): Show |
conservative_inframe_insertion | MODERATE | HG00323.hp2 HG00423.hp2 HG00597.hp1 others(61): Show |
a0003 | a0003c0004a0003c0007 | a0003c0004t0002a0003c0007t0002 | a0003c0004t0002g0000 a0003c0007t0002g0000 |
64 | 434 | 0.1475 | 30 | c.100 others(37): Show |
p.Ser others(41): Show |
KRTAP1-3 | ENSG00000221880.4 | transcript | ENST00000344363.7 | protein_coding | 1/1 | 153/991 | 100/504 | 34/167 | chr17 | TogoVar | |||
KRTAP1-3_chr17_41028884_41039874 | 41034742 | G | GGCTGGCA others(23): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp2 HG02559.hp1 HG02615.hp1 others(4): Show |
a0005 | a0005c0006 | a0005c0006t0001a0005c0006t0008 | a0005c0006t0001g0000 a0005c0006t0008g0000 |
7 | 434 | 0.0161 | 30 | c.79_ others(35): Show |
p.Gln others(41): Show |
KRTAP1-3 | ENSG00000221880.4 | transcript | ENST00000344363.7 | protein_coding | 1/1 | 132/991 | 79/504 | 27/167 | chr17 | TogoVar | |||
KRTAP10-6_chr21_44586268_44597505 | 44591551 | A | AGGAGGGT others(17): Show |
conservative_inframe_insertion | MODERATE | NA18954.hp2 NA18982.hp2 NA18993.hp2 others(1): Show |
a0018 | a0018c0018 | a0018c0018t0001 | a0018c0018t0001g0000 | 4 | 426 | 0.0094 | 24 | c.933 others(31): Show |
p.Val others(37): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 954/1238 | 933/1098 | 311/365 | chr21 | TogoVar | |||
KRTAP10-6_chr21_44586268_44597505 | 44591838 | G | GACTGGCA others(131): Show |
conservative_inframe_insertion | MODERATE | HG01081.hp2 HG01167.hp1 HG01358.hp1 others(24): Show |
a0005a0009a0023others(1): Show | a0005c0007a0005c0054a0009c0022others(5): Show | a0005c0007t0001a0005c0054t0001a0009c0022t0001others(5): Show | a0005c0007t0001g0000 a0005c0054t0001g0000 a0009c0022t0001g0000 others(5): Show |
27 | 425 | 0.0635 | 138 | c.646 others(145): Show |
p.Pro others(150): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 667/1238 | 646/1098 | 216/365 | chr21 | TogoVar | |||
KRTAP2-2_chr17_41049498_41060230 | 41054887 | C | CGCAGGGA others(8): Show |
conservative_inframe_insertion | MODERATE | HG02523.hp1 HG02818.hp2 |
a0001a0003 | a0001c0013a0003c0015 | a0001c0013t0002a0003c0015t0002 | a0001c0013t0002g0000 a0003c0015t0002g0000 |
2 | 67 | 0.0299 | 15 | c.324 others(22): Show |
p.Cys others(28): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 343/733 | 324/372 | 108/123 | chr17 | TogoVar | |||
KRTAP2-2_chr17_41049498_41060230 | 41054887 | C | CGCAGGGG others(188): Show |
stop_gained others(1): Show |
HIGH | HG02738.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0000 | 1 | 66 | 0.0152 | 195 | c.324 others(202): Show |
p.Cys others(208): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 343/733 | 324/372 | 108/123 | chr17 | TogoVar | |||
KRTAP2-2_chr17_41049498_41060230 | 41054887 | C | CGCAGGGG others(98): Show |
stop_gained others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(143): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0010a0003c0004t0001others(1): Show | a0001c0002t0001g0000 a0001c0002t0010g0000 a0003c0004t0001g0000 others(1): Show |
146 | 211 | 0.6919 | 105 | c.324 others(112): Show |
p.Cys others(118): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 343/733 | 324/372 | 108/123 | chr17 | TogoVar | |||
KRTAP2-2_chr17_41049498_41060230 | 41054887 | C | CGCAGGGG others(8): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(189): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0005a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(6): Show |
192 | 257 | 0.7471 | 15 | c.324 others(22): Show |
p.Cys others(28): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 343/733 | 324/372 | 108/123 | chr17 | TogoVar | |||
KRTAP2-2_chr17_41049498_41060230 | 41054892 | G | GGGGACTG others(98): Show |
stop_gained others(1): Show |
HIGH | HG02523.hp2 NA18969.hp2 NA19006.hp2 others(2): Show |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0000 | 5 | 410 | 0.0122 | 105 | c.319 others(112): Show |
p.Ser others(118): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 338/733 | 319/372 | 107/123 | chr17 | TogoVar | |||
KRTAP21-2_chr21_30741794_30752259 | 30746991 | C | CGGT | conservative_inframe_insertion | MODERATE | HG00639.hp2 HG01975.hp2 HG02615.hp1 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0000 | 3 | 378 | 0.0079 | 3 | c.209 others(10): Show |
p.Tyr others(14): Show |
KRTAP21-2 | ENSG00000187026.3 | transcript | ENST00000333892.3 | protein_coding | 1/1 | 268/466 | 211/252 | 71/83 | chr21 | TogoVar | |||
KRTAP4-16_chr17_41096502_41107209 | 41101561 | A | AGGGGAAA others(71): Show |
conservative_inframe_insertion | MODERATE | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 422 | 0.0024 | 78 | c.648 others(85): Show |
p.Pro others(91): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | 648/708 | 648/708 | 216/235 | chr17 | TogoVar | |||
KRTAP4-16_chr17_41096502_41107209 | 41101914 | A | AAGCACAC others(113): Show |
conservative_inframe_insertion | MODERATE | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 422 | 0.0024 | 120 | c.176 others(127): Show |
p.Cys others(11): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | 295/708 | 295/708 | 99/235 | chr17 | TogoVar | |||
KRTAP4-2_chr17_41172446_41183221 | 41177818 | T | TAGCAGGT others(233): Show |
conservative_inframe_insertion | MODERATE | NA19030.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0000 | 1 | 404 | 0.0025 | 240 | c.346 others(247): Show |
p.Cys others(253): Show |
KRTAP4-2 | ENSG00000244537.3 | transcript | ENST00000377726.3 | protein_coding | 1/1 | 403/776 | 346/411 | 116/136 | chr17 | TogoVar |