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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRT18_chr12_52944118_52957906 | 52949359 | CCTGGCCA others(17): Show |
C | disruptive_inframe_deletion | MODERATE | HG03209.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 406 | 0.0025 | -24 | c.192 others(31): Show |
p.Thr others(11): Show |
KRT18 | ENSG00000111057.11 | transcript | ENST00000388835.4 | protein_coding | 1/7 | 248/1413 | 192/1293 | 64/430 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
KRT1_chr12_52669736_52685407 | 52675527 | GAGCCATA others(20): Show |
G | disruptive_inframe_deletion | MODERATE | HG03471.hp1 | a0013 | a0013c0020 | a0013c0020t0001 | a0013c0020t0001g0048 | 1 | 398 | 0.0025 | -27 | c.157 others(36): Show |
p.Tyr others(13): Show |
KRT1 | ENSG00000167768.4 | transcript | ENST00000252244.3 | protein_coding | 9/9 | 1659/2451 | 1574/1935 | 525/644 | chr12 | TogoVar | ||
KRT1_chr12_52669736_52685407 | 52680016 | TCCACCAA others(8): Show |
T | disruptive_inframe_deletion | MODERATE | HG02622.hp1 NA18971.hp1 |
a0016a0017 | a0016c0013a0017c0014 | a0016c0013t0001a0017c0014t0001 | a0016c0013t0001g0027a0017c0014t0001g0026 | 2 | 398 | 0.0050 | -15 | c.318 others(22): Show |
p.Gly others(13): Show |
KRT1 | ENSG00000167768.4 | transcript | ENST00000252244.3 | protein_coding | 1/9 | 391/2451 | 318/1935 | 106/644 | chr12 | TogoVar | ||
KRT3_chr12_52784685_52801117 | 52795629 | ACCAAAGC others(11): Show |
A | disruptive_inframe_deletion | MODERATE | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(138): Show |
a0001a0011a0020 | a0001c0001a0001c0017a0001c0030others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0009others(26): Show | 141 | 454 | 0.3106 | -18 | c.396 others(25): Show |
p.Gly others(13): Show |
KRT3 | ENSG00000186442.7 | transcript | ENST00000417996.2 | protein_coding | 1/9 | 488/2319 | 396/1887 | 132/628 | chr12 | TogoVar | ||
KRT77_chr12_52684626_52708524 | 52691336 | TCCGCCGC others(17): Show |
T | disruptive_inframe_deletion | MODERATE | HG01243.hp2 HG01516.hp1 |
a0018a0025 | a0018c0020a0025c0022 | a0018c0020t0001a0025c0022t0001 | a0018c0020t0001g0129a0025c0022t0001g0082 | 2 | 420 | 0.0048 | -24 | c.154 others(33): Show |
p.Ser others(13): Show |
KRT77 | ENSG00000189182.10 | transcript | ENST00000341809.8 | protein_coding | 9/9 | 1655/3366 | 1542/1737 | 514/578 | chr12 | TogoVar | ||
KRT83_chr12_52309301_52326398 | 52317956 | ACTT | A | disruptive_inframe_deletion | MODERATE | HG02145.hp2 HG02258.hp2 HG02818.hp2 others(2): Show |
a0006a0013 | a0006c0007a0013c0023 | a0006c0007t0003a0013c0023t0003 | a0006c0007t0003g0017a0013c0023t0003g0051 | 5 | 428 | 0.0117 | -3 | c.605 others(10): Show |
p.Glu others(6): Show |
KRT83 | ENSG00000170523.3 | transcript | ENST00000293670.3 | protein_coding | 3/9 | 670/1875 | 605/1482 | 202/493 | chr12 | TogoVar | ||
KRTAP1-1_chr17_41035541_41046450 | 41041248 | GCAGCAGC others(131): Show |
G | disruptive_inframe_deletion | MODERATE | HG00323.hp2 HG00423.hp1 HG00423.hp2 others(57): Show |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0001a0004c0004t0001 | a0003c0003t0001g0000a0004c0004t0001g0000 | 60 | 403 | 0.1489 | -138 | c.12_ others(6): Show |
p.Gln others(10): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 1/1 | 202/910 | 12/534 | 4/177 | chr17 | TogoVar | ||
KRTAP1-1_chr17_41035541_41046450 | 41041267 | CAGCTGGT others(23): Show |
C | disruptive_inframe_deletion | MODERATE | NA19030.hp2 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0000 | 1 | 403 | 0.0025 | -30 | c.101 others(37): Show |
p.Ser others(11): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 1/1 | 183/910 | 101/534 | 34/177 | chr17 | TogoVar | ||
KRTAP1-5_chr17_41021026_41032208 | 41026898 | GCAGCAGC others(23): Show |
G | disruptive_inframe_deletion | MODERATE | NA19086.hp1 | a0009 | a0009c0009 | a0009c0009t0002 | a0009c0009t0002g0000 | 1 | 429 | 0.0023 | -30 | c.228 others(37): Show |
p.Glu others(11): Show |
KRTAP1-5 | ENSG00000221852.5 | transcript | ENST00000361883.6 | protein_coding | 1/1 | 310/1183 | 228/525 | 76/174 | chr17 | TogoVar | ||
KRTAP10-10_chr21_44632356_44643455 | 44637641 | ACCAGCAG others(149): Show |
A | disruptive_inframe_deletion | MODERATE | HG02886.hp1 | a0037 | a0037c0052 | a0037c0052t0002 | a0037c0052t0002g0000 | 1 | 438 | 0.0023 | -156 | c.246 others(7): Show |
p.Asp others(12): Show |
KRTAP10-10 | ENSG00000221859.2 | transcript | ENST00000380095.2 | protein_coding | 1/1 | 308/1100 | 246/756 | 82/251 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
KRTAP10-10_chr21_44632356_44643455 | 44637695 | CCTGCTGT others(8): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(193): Show |
a0002a0004a0005others(11): Show | a0002c0002a0002c0011a0002c0020others(21): Show | a0002c0002t0001a0002c0002t0004a0002c0002t0012others(25): Show | a0002c0002t0001g0000a0002c0002t0004g0000a0002c0002t0012g0000others(25): Show | 196 | 438 | 0.4475 | -15 | c.291 others(22): Show |
p.Val others(12): Show |
KRTAP10-10 | ENSG00000221859.2 | transcript | ENST00000380095.2 | protein_coding | 1/1 | 353/1100 | 291/756 | 97/251 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
KRTAP10-10_chr21_44632356_44643455 | 44637708 | TGTCTGCT others(8): Show |
T | disruptive_inframe_deletion | MODERATE | HG01167.hp1 HG01175.hp2 HG01192.hp2 others(12): Show |
a0005a0023a0030others(1): Show | a0005c0007a0005c0017a0005c0039others(3): Show | a0005c0007t0001a0005c0007t0015a0005c0017t0008others(5): Show | a0005c0007t0001g0000a0005c0007t0015g0000a0005c0017t0008g0000others(5): Show | 15 | 438 | 0.0343 | -15 | c.300 others(22): Show |
p.Val others(13): Show |
KRTAP10-10 | ENSG00000221859.2 | transcript | ENST00000380095.2 | protein_coding | 1/1 | 362/1100 | 300/756 | 100/251 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
KRTAP10-11_chr21_44641414_44652650 | 44646758 | TGTGCCTG others(260): Show |
T | disruptive_inframe_deletion | MODERATE | HG02486.hp2 | a0020 | a0020c0018 | a0020c0018t0001 | a0020c0018t0001g0000 | 1 | 422 | 0.0024 | -267 | c.326 others(7): Show |
p.Cys others(13): Show |
KRTAP10-11 | ENSG00000243489.4 | transcript | ENST00000334670.9 | protein_coding | 1/1 | 371/1237 | 326/897 | 109/298 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
KRTAP10-3_chr21_44552790_44563795 | 44558380 | GGGCACAC others(23): Show |
G | disruptive_inframe_deletion | MODERATE | HG03453.hp1 | a0016 | a0016c0029 | a0016c0029t0001 | a0016c0029t0001g0000 | 1 | 468 | 0.0021 | -30 | c.306 others(37): Show |
p.Val others(13): Show |
KRTAP10-3 | ENSG00000212935.2 | transcript | ENST00000391620.2 | protein_coding | 1/1 | 415/1006 | 306/666 | 102/221 | chr21 | TogoVar | ||
KRTAP10-4_chr21_44568729_44580371 | 44573877 | CCTGCTGC others(8): Show |
C | disruptive_inframe_deletion | MODERATE | HG01081.hp1 HG01258.hp1 HG01884.hp2 others(27): Show |
a0000a0006a0014others(5): Show | a0000c0011a0000c0015a0000c0047others(9): Show | a0000c0011t0005a0000c0011t0006a0000c0015t0005others(10): Show | a0000c0011t0005g0000a0000c0011t0006g0000a0000c0015t0005g0000others(10): Show | 30 | 476 | 0.0630 | -15 | c.132 others(22): Show |
p.Ser others(11): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 1/1 | 162/1643 | 132/1206 | 44/401 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
KRTAP10-4_chr21_44568729_44580371 | 44574003 | CCAGCTCC others(350): Show |
C | disruptive_inframe_deletion | MODERATE | HG01496.hp2 HG06807.hp1 |
a0018 | a0018c0023 | a0018c0023t0008 | a0018c0023t0008g0000 | 2 | 476 | 0.0042 | -357 | c.290 others(7): Show |
p.Leu others(12): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 1/1 | 320/1643 | 290/1206 | 97/401 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
KRTAP10-4_chr21_44568729_44580371 | 44574187 | AGCTTGCT others(338): Show |
A | disruptive_inframe_deletion | MODERATE | NA18992.hp1 | a0030 | a0030c0036 | a0030c0036t0001 | a0030c0036t0001g0000 | 1 | 476 | 0.0021 | -345 | c.447 others(7): Show |
p.Pro others(13): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 1/1 | 477/1643 | 447/1206 | 149/401 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
KRTAP10-6_chr21_44586268_44597505 | 44591768 | ACAGCACA others(8): Show |
A | disruptive_inframe_deletion | MODERATE | NA18986.hp2 NA19080.hp1 |
a0023 | a0023c0027 | a0023c0027t0001 | a0023c0027t0001g0000 | 2 | 428 | 0.0047 | -15 | c.702 others(22): Show |
p.Val others(13): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 737/1238 | 702/1098 | 234/365 | chr21 | TogoVar | ||
KRTAP10-6_chr21_44586268_44597505 | 44591798 | GCAGCAGG others(212): Show |
G | disruptive_inframe_deletion | MODERATE | HG02723.hp1 | a0037 | a0037c0065 | a0037c0065t0001 | a0037c0065t0001g0000 | 1 | 428 | 0.0023 | -219 | c.468 others(7): Show |
p.Val others(13): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 707/1238 | 468/1098 | 156/365 | chr21 | TogoVar | ||
KRTAP13-1_chr21_30391031_30401822 | 30396153 | GCCT | G | disruptive_inframe_deletion | MODERATE | HG02083.hp1 NA18988.hp1 NA19079.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0000 | 3 | 424 | 0.0071 | -3 | c.74_ others(8): Show |
p.Ser others(5): Show |
KRTAP13-1 | ENSG00000198390.5 | transcript | ENST00000355459.4 | protein_coding | 1/1 | 130/792 | 74/519 | 25/172 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
KRTAP4-11_chr17_41112181_41123373 | 41117902 | GCTGGGGT others(203): Show |
G | disruptive_inframe_deletion | MODERATE | HG01934.hp2 | a0012 | a0012c0013 | a0012c0013t0002 | a0012c0013t0002g0000 | 1 | 427 | 0.0023 | -210 | c.204 others(7): Show |
p.Arg others(12): Show |
KRTAP4-11 | ENSG00000212721.4 | transcript | ENST00000391413.4 | protein_coding | 1/1 | 471/1193 | 204/588 | 68/195 | chr17 | TogoVar | ||
KRTAP4-11_chr17_41112181_41123373 | 41117954 | CTGCAGCA others(98): Show |
C | disruptive_inframe_deletion | MODERATE | HG00621.hp2 HG01243.hp2 HG02976.hp1 others(3): Show |
a0003a0007a0011 | a0003c0004a0007c0008a0011c0012 | a0003c0004t0002a0007c0008t0003a0011c0012t0009 | a0003c0004t0002g0000a0007c0008t0003g0000a0011c0012t0009g0000 | 6 | 427 | 0.0141 | -105 | c.257 others(7): Show |
p.Lys others(12): Show |
KRTAP4-11 | ENSG00000212721.4 | transcript | ENST00000391413.4 | protein_coding | 1/1 | 419/1193 | 257/588 | 86/195 | chr17 | TogoVar | ||
KRTAP4-11_chr17_41112181_41123373 | 41118059 | TTGCAGCA others(98): Show |
T | disruptive_inframe_deletion | MODERATE | HG01891.hp1 HG02451.hp1 HG02717.hp1 others(6): Show |
a0005 | a0005c0006 | a0005c0006t0001a0005c0006t0004 | a0005c0006t0001g0000a0005c0006t0004g0000 | 9 | 427 | 0.0211 | -105 | c.152 others(7): Show |
p.Arg others(11): Show |
KRTAP4-11 | ENSG00000212721.4 | transcript | ENST00000391413.4 | protein_coding | 1/1 | 314/1193 | 152/588 | 51/195 | chr17 | TogoVar | ||
KRTAP4-12_chr17_41118091_41129182 | 41123862 | TCTGCAGC others(113): Show |
T | disruptive_inframe_deletion | MODERATE | HG00323.hp1 HG00423.hp1 HG00597.hp1 others(63): Show |
a0002a0005a0006 | a0002c0002a0002c0005a0002c0007others(3): Show | a0002c0002t0002a0002c0005t0001a0002c0007t0001others(3): Show | a0002c0002t0002g0000a0002c0005t0001g0000a0002c0007t0001g0000others(3): Show | 66 | 423 | 0.1560 | -120 | c.141 others(7): Show |
p.Pro others(11): Show |
KRTAP4-12 | ENSG00000213416.4 | transcript | ENST00000394014.2 | protein_coding | 1/1 | 320/1092 | 141/606 | 47/201 | chr17 | TogoVar | ||
KRTAP4-16_chr17_41096502_41107209 | 41101589 | AGAAGGG | A | disruptive_inframe_deletion | MODERATE | HG00323.hp1 HG00597.hp1 HG00621.hp1 others(43): Show |
a0002 | a0002c0003 | a0002c0003t0000 | a0002c0003t0000g0000 | 46 | 423 | 0.1088 | -6 | c.615 others(13): Show |
p.Pro others(13): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | 620/708 | 615/708 | 205/235 | chr17 | TogoVar | ||
KRTAP4-1_chr17_41179100_41189911 | 41184543 | ACGGCAGC others(50): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(399): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0006others(2): Show | a0001c0001t0001a0003c0003t0001a0004c0006t0005others(2): Show | a0001c0001t0001g0000a0003c0003t0001g0000a0004c0006t0005g0000others(2): Show | 402 | 426 | 0.9437 | -57 | c.255 others(64): Show |
p.Pro others(12): Show |
KRTAP4-1 | ENSG00000198443.8 | transcript | ENST00000398472.2 | protein_coding | 1/1 | 368/812 | 255/441 | 85/146 | chr17 | TogoVar | ||
KRTAP4-3_chr17_41162231_41173221 | 41167852 | AGAAATGC others(83): Show |
A | disruptive_inframe_deletion | MODERATE | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(169): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0000a0001c0009t0001g0000 | 172 | 410 | 0.4195 | -90 | c.231 others(97): Show |
p.Ser others(12): Show |
KRTAP4-3 | ENSG00000196156.5 | transcript | ENST00000391356.4 | protein_coding | 1/1 | 369/991 | 231/588 | 77/195 | chr17 | TogoVar | ||
KRTAP4-6_chr17_41134433_41145544 | 41140276 | TGACAGCA others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG01884.hp1 HG01891.hp2 HG02055.hp2 others(9): Show |
a0003 | a0003c0004a0003c0013 | a0003c0004t0001a0003c0004t0006a0003c0004t0007others(1): Show | a0003c0004t0001g0000a0003c0004t0006g0000a0003c0004t0007g0000others(1): Show | 12 | 438 | 0.0274 | -12 | c.200 others(19): Show |
p.Pro others(11): Show |
KRTAP4-6 | ENSG00000198090.4 | transcript | ENST00000345847.5 | protein_coding | 1/1 | 268/1112 | 200/618 | 67/205 | chr17 | TogoVar | ||
KRTAP4-7_chr17_41079150_41090144 | 41084358 | GGCCCCAG others(128): Show |
G | disruptive_inframe_deletion | MODERATE | HG02486.hp1 HG02622.hp2 HG02630.hp2 others(4): Show |
a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0000 | 7 | 442 | 0.0158 | -135 | c.183 others(7): Show |
p.Pro others(12): Show |
KRTAP4-7 | ENSG00000240871.7 | transcript | ENST00000391417.6 | protein_coding | 1/1 | 240/995 | 183/468 | 61/155 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
KRTAP4-8_chr17_41091981_41103142 | 41097815 | GCAGCAGG others(68): Show |
G | disruptive_inframe_deletion | MODERATE | HG01516.hp1 | a0013 | a0013c0012 | a0013c0012t0001 | a0013c0012t0001g0000 | 1 | 416 | 0.0024 | -75 | c.195 others(82): Show |
p.Arg others(11): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 327/1162 | 195/558 | 65/185 | chr17 | TogoVar | ||
KRTAP5-10_chr11_71560563_71571735 | 71565845 | CTGTGGGG others(53): Show |
C | disruptive_inframe_deletion | MODERATE | NA19089.hp1 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0000 | 1 | 468 | 0.0021 | -60 | c.303 others(67): Show |
p.Gly others(13): Show |
KRTAP5-10 | ENSG00000204572.10 | transcript | ENST00000398531.3 | protein_coding | 1/1 | 328/1173 | 303/609 | 101/202 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-10_chr11_71560563_71571735 | 71566054 | CCTGCTGC others(23): Show |
C | disruptive_inframe_deletion | MODERATE | HG03540.hp2 | a0008 | a0008c0013 | a0008c0013t0004 | a0008c0013t0004g0000 | 1 | 468 | 0.0021 | -30 | c.489 others(37): Show |
p.Asn others(13): Show |
KRTAP5-10 | ENSG00000204572.10 | transcript | ENST00000398531.3 | protein_coding | 1/1 | 514/1173 | 489/609 | 163/202 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-1_chr11_1579342_1590283 | 1584752 | GGCCCCCT others(197): Show |
G | disruptive_inframe_deletion | MODERATE | HG02572.hp1 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0000 | 1 | 429 | 0.0023 | -204 | c.294 others(7): Show |
p.Cys others(12): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 1/1 | 531/942 | 294/837 | 98/278 | chr11 | TogoVar | ||
KRTAP5-1_chr11_1579342_1590283 | 1584890 | ACCACAGC others(23): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(209): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0018a0003c0003others(7): Show | a0002c0002t0001a0002c0018t0001a0003c0003t0001others(7): Show | a0002c0002t0001g0000a0002c0018t0001g0000a0003c0003t0001g0000others(7): Show | 212 | 429 | 0.4942 | -30 | c.330 others(37): Show |
p.Ser others(13): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 1/1 | 393/942 | 330/837 | 110/278 | chr11 | TogoVar | ||
KRTAP5-1_chr11_1579342_1590283 | 1585007 | GGAGCCAC others(23): Show |
G | disruptive_inframe_deletion | MODERATE | NA18952.hp2 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0000 | 1 | 429 | 0.0023 | -30 | c.213 others(37): Show |
p.Ser others(11): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 1/1 | 276/942 | 213/837 | 71/278 | chr11 | TogoVar | ||
KRTAP5-1_chr11_1579342_1590283 | 1585151 | AGAGCCAC others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG02004.hp2 | a0013 | a0013c0019 | a0013c0019t0001 | a0013c0019t0001g0000 | 1 | 429 | 0.0023 | -21 | c.78_ others(26): Show |
p.Gly others(11): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 1/1 | 132/942 | 78/837 | 26/278 | chr11 | TogoVar | ||
KRTAP5-2_chr11_1592177_1603294 | 1597924 | ACCACAGC others(23): Show |
A | disruptive_inframe_deletion | MODERATE | NA19090.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0000 | 1 | 412 | 0.0024 | -30 | c.297 others(37): Show |
p.Ser others(13): Show |
KRTAP5-2 | ENSG00000205867.3 | transcript | ENST00000412090.2 | protein_coding | 1/1 | 370/1118 | 297/534 | 99/177 | chr11 | TogoVar | ||
KRTAP5-2_chr11_1592177_1603294 | 1597942 | ACCCCCAC others(23): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(202): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0000a0001c0001t0004g0000a0001c0001t0005g0000others(1): Show | 205 | 412 | 0.4976 | -30 | c.279 others(37): Show |
p.Ser others(12): Show |
KRTAP5-2 | ENSG00000205867.3 | transcript | ENST00000412090.2 | protein_coding | 1/1 | 352/1118 | 279/534 | 93/177 | chr11 | TogoVar | ||
KRTAP5-3_chr11_1602565_1613463 | 1607726 | CTTGCAGC others(80): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00408.hp1 HG00609.hp1 others(29): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0003 | a0002c0003t0002g0000a0002c0003t0003g0000 | 32 | 427 | 0.0749 | -87 | c.573 others(94): Show |
p.Pro others(13): Show |
KRTAP5-3 | ENSG00000196224.7 | transcript | ENST00000399685.1 | protein_coding | 1/1 | 737/899 | 573/717 | 191/238 | chr11 | TogoVar | ||
KRTAP5-4_chr11_1615958_1627138 | 1621524 | ACAGCAGC others(23): Show |
A | disruptive_inframe_deletion | MODERATE | HG02647.hp2 HG03688.hp2 |
a0009 | a0009c0009 | a0009c0009t0001a0009c0009t0009 | a0009c0009t0001g0000a0009c0009t0009g0000 | 2 | 427 | 0.0047 | -30 | c.540 others(37): Show |
p.Lys others(13): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1/1 | 614/1181 | 540/687 | 180/228 | chr11 | TogoVar | ||
KRTAP5-4_chr11_1615958_1627138 | 1621822 | CAGCCCCC others(23): Show |
C | disruptive_inframe_deletion | MODERATE | NA20300.hp1 | a0010 | a0010c0011 | a0010c0011t0002 | a0010c0011t0002g0000 | 1 | 427 | 0.0023 | -30 | c.242 others(37): Show |
p.Tyr others(11): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1/1 | 316/1181 | 242/687 | 81/228 | chr11 | TogoVar | ||
KRTAP5-4_chr11_1615958_1627138 | 1621974 | GGAGCCAC others(35): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00438.hp2 HG00609.hp1 others(46): Show |
a0003a0005a0007 | a0003c0003a0005c0005a0007c0007 | a0003c0003t0003a0005c0005t0003a0005c0005t0004others(1): Show | a0003c0003t0003g0000a0005c0005t0003g0000a0005c0005t0004g0000others(1): Show | 49 | 427 | 0.1148 | -42 | c.78_ others(48): Show |
p.Gly others(11): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1/1 | 164/1181 | 78/687 | 26/228 | chr11 | TogoVar | ||
KRTAP5-4_chr11_1615958_1627138 | 1621995 | GGAGCCAC others(14): Show |
G | disruptive_inframe_deletion | MODERATE | HG02523.hp2 | a0015 | a0015c0016 | a0015c0016t0001 | a0015c0016t0001g0000 | 1 | 427 | 0.0023 | -21 | c.78_ others(26): Show |
p.Gly others(11): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1/1 | 143/1181 | 78/687 | 26/228 | chr11 | TogoVar | ||
KRTAP5-5_chr11_1624775_1635930 | 1629968 | GAGGCTGT others(23): Show |
G | disruptive_inframe_deletion | MODERATE | HG01243.hp2 | a0023 | a0023c0020 | a0023c0020t0005 | a0023c0020t0005g0000 | 1 | 445 | 0.0023 | -30 | c.129 others(37): Show |
p.Gly others(11): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 195/1156 | 129/714 | 43/237 | chr11 | TogoVar | ||
KRTAP5-5_chr11_1624775_1635930 | 1629969 | AGGCTGTG others(23): Show |
A | disruptive_inframe_deletion | MODERATE | HG03579.hp2 | a0015 | a0015c0029 | a0015c0029t0001 | a0015c0029t0001g0000 | 1 | 445 | 0.0023 | -30 | c.141 others(37): Show |
p.Cys others(11): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 207/1156 | 141/714 | 47/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-5_chr11_1624775_1635930 | 1630133 | GCTGTGTC others(23): Show |
G | disruptive_inframe_deletion | MODERATE | NA18976.hp1 | a0016 | a0016c0023 | a0016c0023t0001 | a0016c0023t0001g0000 | 1 | 445 | 0.0023 | -30 | c.299 others(37): Show |
p.Val others(13): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 365/1156 | 299/714 | 100/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-5_chr11_1624775_1635930 | 1630163 | CCTGTGGC others(23): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0007a0001c0030others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(16): Show | a0001c0001t0001g0000a0001c0001t0006g0000a0001c0001t0007g0000others(16): Show | 267 | 445 | 0.6000 | -30 | c.420 others(37): Show |
p.Ser others(13): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 486/1156 | 420/714 | 140/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-5_chr11_1624775_1635930 | 1630163 | CCTGTGGC others(53): Show |
C | disruptive_inframe_deletion | MODERATE | HG01943.hp2 HG02559.hp2 HG02622.hp1 others(4): Show |
a0010a0014a0018others(1): Show | a0010c0012a0014c0013a0018c0026others(1): Show | a0010c0012t0001a0014c0013t0003a0018c0026t0001others(1): Show | a0010c0012t0001g0000a0014c0013t0003g0000a0018c0026t0001g0000others(1): Show | 7 | 445 | 0.0157 | -60 | c.390 others(67): Show |
p.Ser others(13): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 456/1156 | 390/714 | 130/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-5_chr11_1624775_1635930 | 1630355 | CCTGCTGC others(23): Show |
C | disruptive_inframe_deletion | MODERATE | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(67): Show |
a0001a0005a0006others(10): Show | a0001c0007a0005c0005a0006c0006others(11): Show | a0001c0007t0001a0001c0007t0006a0005c0005t0004others(12): Show | a0001c0007t0001g0000a0001c0007t0006g0000a0005c0005t0004g0000others(12): Show | 70 | 445 | 0.1573 | -30 | c.543 others(37): Show |
p.Tyr others(13): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 609/1156 | 543/714 | 181/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-5_chr11_1624775_1635930 | 1630383 | TTACTGCT others(23): Show |
T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(186): Show |
a0001a0004a0010others(5): Show | a0001c0001a0001c0030a0004c0004others(6): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(10): Show | a0001c0001t0001g0000a0001c0001t0006g0000a0001c0001t0007g0000others(10): Show | 189 | 445 | 0.4247 | -30 | c.575 others(37): Show |
p.Tyr others(13): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 641/1156 | 575/714 | 192/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |