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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KMT2B_chr19_35713003_35743878 | 35733317 | A | AC | frameshift_variant | HIGH | HG00621.hp2 HG00741.hp2 HG02080.hp1 others(14): Show |
a0005a0008a0010others(1): Show | a0005c0007a0005c0015a0005c0017others(5): Show | a0005c0007t0001a0005c0015t0001a0005c0017t0001others(6): Show | a0005c0007t0001g0001a0005c0007t0001g0002a0005c0007t0001g0012others(10): Show | 17 | 396 | 0.0429 | 1 | c.677 others(5): Show |
p.Pro others(6): Show |
KMT2B | ENSG00000272333.8 | transcript | ENST00000420124.4 | protein_coding | 28/37 | 6790/8485 | 6774/8148 | 2258/2715 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
KMT2C_chr7_152129925_152441003 | 152152830 | G | GGTTGATT others(7): Show |
frameshift_variant | HIGH | NA18977.hp1 | a0012 | a0012c0021 | a0012c0021t0007 | a0012c0021t0007g0013 | 1 | 172 | 0.0058 | 14 | c.124 others(25): Show |
p.Pro others(6): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 49/59 | 12617/16860 | 12400/14736 | 4134/4911 | chr7 | TogoVar | ||
KMT2D_chr12_49013978_49065794 | 49040685 | GGAGAAGG others(4): Show |
G | frameshift_variant | HIGH | NA18967.hp1 | a0016 | a0016c0057 | a0016c0057t0002 | a0016c0057t0002g0153 | 1 | 302 | 0.0033 | -11 | c.707 others(20): Show |
p.Leu others(6): Show |
KMT2D | ENSG00000167548.18 | transcript | ENST00000301067.12 | protein_coding | 32/55 | 8303/20635 | 7074/16614 | 2358/5537 | chr12 | TogoVar | ||
KMT5B_chr11_68149863_68218296 | 68158421 | A | AC | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(12): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0001a0002c0002t0002a0002c0002t0013others(1): Show | a0002c0002t0001g0051a0002c0002t0001g0075a0002c0002t0001g0088others(12): Show | 15 | 328 | 0.0457 | 1 | c.192 others(5): Show |
p.Val others(5): Show |
KMT5B | ENSG00000110066.16 | transcript | ENST00000304363.9 | protein_coding | 11/11 | 2159/5718 | 1924/2658 | 642/885 | chr11 | TogoVar | ||
KPRP_chr1_152753025_152767056 | 152761321 | A | AT | frameshift_variant others(1): Show |
HIGH | HG02615.hp2 HG02622.hp1 HG02896.hp1 others(3): Show |
a0000 | a0000c0008 | a0000c0008t0002 | a0000c0008t0002g0001 | 6 | 428 | 0.0140 | 1 | c.173 others(5): Show |
p.Ter others(5): Show |
KPRP | ENSG00000203786.7 | transcript | ENST00000606109.2 | protein_coding | 2/2 | 1802/2531 | 1739/1740 | 580/579 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
KRT10_chr17_40813117_40827614 | 40818870 | G | GCCGCCGG others(24): Show |
frameshift_variant | HIGH | NA19055.hp1 | a0018 | a0018c0023 | a0018c0023t0001 | a0018c0023t0001g0029 | 1 | 426 | 0.0024 | 31 | c.166 others(40): Show |
p.Gly others(5): Show |
KRT10 | ENSG00000186395.9 | transcript | ENST00000269576.6 | protein_coding | 7/8 | 1693/2143 | 1664/1755 | 555/584 | chr17 | TogoVar | ||
KRT24_chr17_40692991_40708752 | 40701882 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(201): Show |
a0001a0010a0012 | a0001c0001a0001c0013a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0011others(54): Show | 204 | 424 | 0.4811 | -1 | c.666 others(4): Show |
p.Asn others(5): Show |
KRT24 | ENSG00000167916.5 | transcript | ENST00000264651.3 | protein_coding | 2/8 | 725/1883 | 666/1578 | 222/525 | chr17 | TogoVar | ||
KRT28_chr17_40787196_40804959 | 40799586 | TTATCCAG others(19): Show |
T | frameshift_variant | HIGH | NA19077.hp1 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0039 | 1 | 466 | 0.0022 | -26 | c.282 others(33): Show |
p.Asn others(4): Show |
KRT28 | ENSG00000173908.9 | transcript | ENST00000306658.8 | protein_coding | 1/8 | 373/1692 | 282/1395 | 94/464 | chr17 | TogoVar | ||
KRT2_chr12_52639558_52657211 | 52647826 | TCTCCCGA others(34): Show |
T | frameshift_variant others(3): Show |
HIGH | NA19063.hp1 | a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0071 | 1 | 466 | 0.0022 | -41 | c.112 others(53): Show |
p.Tyr others(5): Show |
KRT2 | ENSG00000172867.4 | transcript | ENST00000309680.4 | protein_coding | 6/9 | 1220/2450 | 1123/1920 | 375/639 | chr12 | TogoVar | ||
KRTAP1-1_chr17_41035541_41046450 | 41041047 | CCTGATAC others(3): Show |
C | frameshift_variant | HIGH | NA19088.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0000 | 1 | 403 | 0.0025 | -10 | c.341 others(17): Show |
p.Thr others(5): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 1/1 | 403/910 | 341/534 | 114/177 | chr17 | TogoVar | ||
KRTAP13-1_chr21_30391031_30401822 | 30396114 | T | TTCTCCTC others(40): Show |
frameshift_variant | HIGH | NA18993.hp1 | a0008 | a0008c0006 | a0008c0006t0001 | a0008c0006t0001g0000 | 1 | 424 | 0.0024 | 47 | c.30_ others(52): Show |
p.Cys others(4): Show |
KRTAP13-1 | ENSG00000198390.5 | transcript | ENST00000355459.4 | protein_coding | 1/1 | 133/792 | 77/519 | 26/172 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
KRTAP16-1_chr17_41302700_41314309 | 41307829 | G | GCTCAAAC others(15): Show |
frameshift_variant | HIGH | HG00323.hp1 | a0016 | a0016c0012 | a0016c0012t0001 | a0016c0012t0001g0000 | 1 | 421 | 0.0024 | 22 | c.142 others(31): Show |
p.Asp others(5): Show |
KRTAP16-1 | ENSG00000212657.2 | transcript | ENST00000391352.2 | protein_coding | 1/1 | 1480/1610 | 1424/1554 | 475/517 | chr17 | TogoVar | ||
KRTAP19-6_chr21_30536535_30546864 | 30541662 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(301): Show |
a0000 | a0000c0001a0000c0003a0000c0004others(2): Show | a0000c0001t0001a0000c0003t0001a0000c0004t0001others(2): Show | a0000c0001t0001g0000a0000c0003t0001g0000a0000c0004t0001g0000others(2): Show | 304 | 394 | 0.7716 | -1 | c.171 others(4): Show |
p.Tyr others(4): Show |
KRTAP19-6 | ENSG00000186925.6 | transcript | ENST00000334046.5 | protein_coding | 1/1 | 202/330 | 171/177 | 57/58 | chr21 | TogoVar | ||
KRTAP2-1_chr17_41041541_41052316 | 41046943 | AGCAGGGG others(5366): Show |
A | frameshift_variant others(1): Show |
HIGH | HG02622.hp2 HG02630.hp2 HG04204.hp2 |
a0000 | a0000c0006 | a0000c0006t0010a0000c0006t0016 | a0000c0006t0010g0000a0000c0006t0016g0000 | 3 | 407 | 0.0074 | -5373 | c.-50 others(9): Show |
p.Met others(3): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 1/1 | 373/776 | 1/387 | 1/128 | chr17 | TogoVar | ||
KRTAP2-2_chr17_41049498_41060230 | 41054887 | C | CGCAGGGG others(9): Show |
frameshift_variant | HIGH | NA18972.hp2 | a0000 | a0000c0013 | a0000c0013t0001 | a0000c0013t0001g0000 | 1 | 411 | 0.0024 | 16 | c.324 others(23): Show |
p.Gly others(5): 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 | CGCAGGGG others(5336): Show |
C | frameshift_variant others(1): Show |
HIGH | HG01256.hp1 HG01258.hp1 |
a0000 | a0000c0010 | a0000c0010t0006 | a0000c0010t0006g0000 | 2 | 411 | 0.0049 | -5343 | c.-50 others(9): Show |
p.Met others(3): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 343/733 | 1/372 | 1/123 | chr17 | TogoVar | ||
KRTAP2-2_chr17_41049498_41060230 | 41054890 | A | AGGGGGAC others(99): Show |
frameshift_variant | HIGH | HG00673.hp2 | a0000 | a0000c0012 | a0000c0012t0001 | a0000c0012t0001g0000 | 1 | 411 | 0.0024 | 106 | c.321 others(113): Show |
p.Cys others(5): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 340/733 | 321/372 | 107/123 | chr17 | TogoVar | ||
KRTAP2-2_chr17_41049498_41060230 | 41054890 | A | AGGGGGGC others(9): Show |
frameshift_variant | HIGH | HG02602.hp1 | a0000 | a0000c0011 | a0000c0011t0002 | a0000c0011t0002g0000 | 1 | 411 | 0.0024 | 16 | c.321 others(23): Show |
p.Cys others(5): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 340/733 | 321/372 | 107/123 | chr17 | TogoVar | ||
KRTAP2-3_chr17_41054240_41065114 | 41060049 | A | AC | frameshift_variant others(1): Show |
HIGH | HG02145.hp2 HG02486.hp1 HG02572.hp2 others(5): Show |
a0000 | a0000c0006 | a0000c0006t0006 | a0000c0006t0006g0000 | 8 | 441 | 0.0181 | 1 | c.1_2 others(4): Show |
p.Met others(3): Show |
KRTAP2-3 | ENSG00000212724.3 | transcript | ENST00000391418.3 | protein_coding | 1/1 | 65/875 | 1/387 | 1/128 | chr17 | TogoVar | ||
KRTAP24-1_chr21_30276309_30287950 | 30282095 | ATTAGACG others(72): Show |
A | frameshift_variant others(1): Show |
HIGH | NA19004.hp1 | a0000 | a0000c0005 | a0000c0005t0009 | a0000c0005t0009g0000 | 1 | 452 | 0.0022 | -79 | c.759 others(86): Show |
p.Cys others(5): Show |
KRTAP24-1 | ENSG00000188694.6 | transcript | ENST00000340345.6 | protein_coding | 1/1 | 855/1642 | 759/765 | 253/254 | chr21 | TogoVar | ||
KRTAP29-1_chr17_41296826_41307851 | 41302321 | TGTACAGA others(6): Show |
T | frameshift_variant | HIGH | HG00408.hp2 HG00544.hp2 HG00639.hp1 others(82): Show |
a0002a0004a0007 | a0002c0002a0002c0009a0004c0006others(1): Show | a0002c0002t0000a0002c0009t0000a0004c0006t0000others(1): Show | a0002c0002t0000g0000a0002c0009t0000g0000a0004c0006t0000g0000others(1): Show | 85 | 399 | 0.2130 | -13 | c.518 others(20): Show |
p.Pro others(5): Show |
KRTAP29-1 | ENSG00000212658.1 | transcript | ENST00000391353.1 | protein_coding | 1/1 | 530/1026 | 518/1026 | 173/341 | chr17 | TogoVar | ||
KRTAP3-3_chr17_40988430_40999164 | 40993776 | AGGCACTG others(5381): Show |
A | frameshift_variant others(1): Show |
HIGH | HG01943.hp1 | a0000 | a0000c0000 | a0000c0000t0010 | a0000c0000t0010g0000 | 1 | 471 | 0.0021 | -5388 | c.-50 others(9): Show |
p.Met others(3): Show |
KRTAP3-3 | ENSG00000212899.3 | transcript | ENST00000391586.3 | protein_coding | 1/1 | 388/735 | 1/297 | 1/98 | chr17 | TogoVar | ||
KRTAP4-12_chr17_41118091_41129182 | 41123867 | AGCAGCTG others(112): Show |
A | frameshift_variant | HIGH | NA18997.hp1 | a0007 | a0007c0013 | a0007c0013t0002 | a0007c0013t0002g0000 | 1 | 423 | 0.0024 | -119 | c.137 others(7): Show |
p.Cys others(4): Show |
KRTAP4-12 | ENSG00000213416.4 | transcript | ENST00000394014.2 | protein_coding | 1/1 | 315/1092 | 137/606 | 46/201 | chr17 | TogoVar | ||
KRTAP4-16_chr17_41096502_41107209 | 41101539 | TGAGGG | T | frameshift_variant | HIGH | HG00735.hp1 HG01167.hp1 HG01169.hp2 others(9): Show |
a0004 | a0004c0006 | a0004c0006t0000 | a0004c0006t0000g0000 | 12 | 423 | 0.0284 | -5 | c.666 others(12): Show |
p.Pro others(5): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | 670/708 | 666/708 | 222/235 | chr17 | TogoVar | ||
KRTAP4-16_chr17_41096502_41107209 | 41101539 | TGAGGGGA others(3): Show |
T | frameshift_variant | HIGH | HG00423.hp1 HG01928.hp1 NA19006.hp2 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0000 | a0002c0003t0000g0000 | 4 | 423 | 0.0095 | -10 | c.661 others(17): Show |
p.Pro others(5): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | 670/708 | 661/708 | 221/235 | chr17 | TogoVar | ||
KRTAP4-16_chr17_41096502_41107209 | 41101562 | G | GGGGAAAG others(69): Show |
frameshift_variant others(1): Show |
HIGH | HG00323.hp1 HG00597.hp1 HG00621.hp1 others(43): Show |
a0002 | a0002c0003 | a0002c0003t0000 | a0002c0003t0000g0000 | 46 | 423 | 0.1088 | 76 | c.647 others(83): Show |
p.Ser others(5): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | 647/708 | 647/708 | 216/235 | chr17 | TogoVar | ||
KRTAP4-16_chr17_41096502_41107209 | 41101595 | G | GGAAGGGG others(73): Show |
frameshift_variant others(1): Show |
HIGH | HG00423.hp1 HG01928.hp1 HG02451.hp1 others(4): Show |
a0002a0010 | a0002c0003a0002c0011a0010c0015 | a0002c0003t0000a0002c0011t0000a0010c0015t0000 | a0002c0003t0000g0000a0002c0011t0000g0000a0010c0015t0000g0000 | 7 | 423 | 0.0166 | 80 | c.614 others(87): Show |
p.Pro others(5): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | 614/708 | 614/708 | 205/235 | chr17 | TogoVar | ||
KRTAP4-16_chr17_41096502_41107209 | 41101698 | G | GGGGAAGG others(19): Show |
frameshift_variant | HIGH | HG00323.hp1 HG00423.hp1 HG00597.hp1 others(51): Show |
a0002a0010 | a0002c0003a0002c0011a0002c0014others(1): Show | a0002c0003t0000a0002c0011t0000a0002c0014t0000others(1): Show | a0002c0003t0000g0000a0002c0011t0000g0000a0002c0014t0000g0000others(1): Show | 54 | 423 | 0.1277 | 26 | c.511 others(33): Show |
p.Pro others(5): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | 511/708 | 511/708 | 171/235 | chr17 | TogoVar | ||
KRTAP4-3_chr17_41162231_41173221 | 41168017 | A | AGGCCTGC others(99): Show |
frameshift_variant | HIGH | HG01516.hp2 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0000 | 1 | 410 | 0.0024 | 106 | c.155 others(113): Show |
p.Ser others(4): Show |
KRTAP4-3 | ENSG00000196156.5 | transcript | ENST00000391356.4 | protein_coding | 1/1 | 204/991 | 155/588 | 52/195 | chr17 | TogoVar | ||
KRTAP4-7_chr17_41079150_41090144 | 41084543 | A | AGCTGCTG others(159): Show |
frameshift_variant others(1): Show |
HIGH | NA19075.hp1 | a0015 | a0015c0017 | a0015c0017t0001 | a0015c0017t0001g0000 | 1 | 442 | 0.0023 | 166 | c.345 others(173): Show |
p.Arg others(5): Show |
KRTAP4-7 | ENSG00000240871.7 | transcript | ENST00000391417.6 | protein_coding | 1/1 | 403/995 | 346/468 | 116/155 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
KRTAP4-8_chr17_41091981_41103142 | 41097963 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp2 HG01255.hp2 others(10): Show |
a0005a0008a0010others(1): Show | a0005c0005a0008c0009a0010c0014others(1): Show | a0005c0005t0002a0008c0009t0003a0010c0014t0004others(1): Show | a0005c0005t0002g0000a0008c0009t0003g0000a0010c0014t0004g0000others(1): Show | 13 | 416 | 0.0313 | 1 | c.121 others(4): Show |
p.Arg others(4): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 179/1162 | 121/558 | 41/185 | chr17 | TogoVar | ||
KRTAP4-8_chr17_41091981_41103142 | 41098083 | A | AT | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(233): Show |
a0001a0003a0007others(5): Show | a0001c0001a0003c0003a0003c0010others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(12): Show | a0001c0001t0001g0000a0001c0001t0005g0000a0001c0001t0012g0000others(12): Show | 236 | 416 | 0.5673 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 59/1162 | 1/558 | 1/185 | chr17 | TogoVar | ||
KRTAP5-1_chr11_1579342_1590283 | 1584674 | T | TCCCCCAC others(54): Show |
frameshift_variant | HIGH | NA18956.hp2 NA19078.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0000 | 2 | 429 | 0.0047 | 61 | c.575 others(68): Show |
p.Gly others(5): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 1/1 | 609/942 | 575/837 | 192/278 | chr11 | TogoVar | ||
KRTAP5-1_chr11_1579342_1590283 | 1584946 | AGGAGCCA others(52): Show |
A | frameshift_variant | HIGH | NA18949.hp2 | a0016 | a0016c0020 | a0016c0020t0003 | a0016c0020t0003g0000 | 1 | 429 | 0.0023 | -59 | c.245 others(66): Show |
p.Cys others(4): Show |
KRTAP5-1 | ENSG00000205869.2 | transcript | ENST00000382171.2 | protein_coding | 1/1 | 337/942 | 245/837 | 82/278 | chr11 | TogoVar | ||
KRTAP5-4_chr11_1615958_1627138 | 1621779 | C | CCCACAGG others(174): Show |
frameshift_variant | HIGH | NA18989.hp2 | a0011 | a0011c0015 | a0011c0015t0005 | a0011c0015t0005g0000 | 1 | 427 | 0.0023 | 181 | c.314 others(188): Show |
p.Ser others(5): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1/1 | 359/1181 | 314/687 | 105/228 | chr11 | TogoVar | ||
KRTAP5-5_chr11_1624775_1635930 | 1630158 | GGGGGCCT others(22): Show |
G | frameshift_variant | HIGH | NA18968.hp2 | a0020 | a0020c0028 | a0020c0028t0001 | a0020c0028t0001g0000 | 1 | 445 | 0.0023 | -29 | c.323 others(36): Show |
p.Ala others(5): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 389/1156 | 323/714 | 108/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-5_chr11_1624775_1635930 | 1630188 | GGGGGGCT others(22): Show |
G | frameshift_variant | HIGH | NA19055.hp2 | a0019 | a0019c0027 | a0019c0027t0001 | a0019c0027t0001g0000 | 1 | 445 | 0.0023 | -29 | c.354 others(36): Show |
p.Cys others(5): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 420/1156 | 354/714 | 118/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-5_chr11_1624775_1635930 | 1630207 | GGGGGGTC others(22): Show |
G | frameshift_variant | HIGH | NA18976.hp1 | a0016 | a0016c0023 | a0016c0023t0001 | a0016c0023t0001g0000 | 1 | 445 | 0.0023 | -29 | c.373 others(36): Show |
p.Ser others(5): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 439/1156 | 373/714 | 125/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-5_chr11_1624775_1635930 | 1630391 | GCCAGTCC others(22): Show |
G | frameshift_variant | HIGH | NA19055.hp2 | a0019 | a0019c0027 | a0019c0027t0001 | a0019c0027t0001g0000 | 1 | 445 | 0.0023 | -29 | c.552 others(36): Show |
p.Cys others(5): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 618/1156 | 552/714 | 184/237 | chr11 | TogoVar | ||
KRTAP6-2_chr21_30593590_30603902 | 30598756 | T | TA | frameshift_variant | HIGH | HG02258.hp2 HG02486.hp1 HG02572.hp2 others(6): Show |
a0000 | a0000c0003 | a0000c0003t0001 | a0000c0003t0001g0000 | 9 | 442 | 0.0204 | 1 | c.118 others(4): Show |
p.Tyr others(4): Show |
KRTAP6-2 | ENSG00000186930.4 | transcript | ENST00000334897.4 | protein_coding | 1/1 | 146/313 | 118/189 | 40/62 | chr21 | TogoVar | ||
KRTAP9-2_chr17_41221648_41232652 | 41227018 | TACCCCAC others(5627): Show |
T | frameshift_variant others(4): Show |
HIGH | HG01884.hp2 HG02622.hp2 HG02630.hp1 others(8): Show |
a0000 | a0000c0004 | a0000c0004t0002 | a0000c0004t0002g0000 | 11 | 437 | 0.0252 | -5634 | c.365 others(9): Show |
p.Tyr others(5): Show |
KRTAP9-2 | ENSG00000239886.5 | transcript | ENST00000377721.3 | protein_coding | 1/1 | 372/1005 | 365/525 | 122/174 | chr17 | TogoVar | ||
KRTAP9-6_chr17_41260378_41270860 | 41265460 | TTGTGACC others(5393): Show |
T | frameshift_variant others(2): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(138): Show |
a0000 | a0000c0001 | a0000c0001t0000 | a0000c0001t0000g0000 | 141 | 248 | 0.5686 | -5400 | c.84_ others(8): Show |
p.Ile others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 84/483 | 84/483 | 28/160 | chr17 | TogoVar | ||
KRTAP9-6_chr17_41260378_41270860 | 41265463 | TGACCACC others(5390): Show |
T | frameshift_variant others(2): Show |
HIGH | NA18987.hp2 | a0000 | a0000c0006 | a0000c0006t0000 | a0000c0006t0000g0000 | 1 | 248 | 0.0040 | -5397 | c.87_ others(8): Show |
p.Val others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 87/483 | 87/483 | 29/160 | chr17 | TogoVar | ||
KRTAP9-6_chr17_41260378_41270860 | 41265523 | AGCCTTAC others(5330): Show |
A | frameshift_variant others(2): Show |
HIGH | NA19063.hp2 | a0000 | a0000c0007 | a0000c0007t0000 | a0000c0007t0000g0000 | 1 | 248 | 0.0040 | -5337 | c.147 others(9): Show |
p.Gln others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 147/483 | 147/483 | 49/160 | chr17 | TogoVar | ||
KRTAP9-6_chr17_41260378_41270860 | 41265595 | CCAGCTGC others(5258): Show |
C | frameshift_variant others(2): Show |
HIGH | HG01261.hp2 | a0000 | a0000c0009 | a0000c0009t0000 | a0000c0009t0000g0000 | 1 | 248 | 0.0040 | -5265 | c.219 others(9): Show |
p.Thr others(4): Show |
KRTAP9-6 | ENSG00000212659.2 | transcript | ENST00000391355.2 | protein_coding | 1/1 | 219/483 | 219/483 | 73/160 | chr17 | TogoVar | ||
L1CAM_chrX_153856516_153891173 | 153863994 | C | CA | frameshift_variant | HIGH | NA19006.hp1 | a0016 | a0016c0010 | a0016c0010t0007 | a0016c0010t0007g0175 | 1 | 283 | 0.0035 | 1 | c.334 others(5): Show |
p.Gly others(6): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 26/29 | 3562/5138 | 3345/3774 | 1115/1257 | chrX | TogoVar | ||
L1CAM_chrX_153856516_153891173 | 153864667 | A | ACCCGCTG others(3): Show |
frameshift_variant | HIGH | HG02683.hp1 | a0012 | a0012c0018 | a0012c0018t0001 | a0012c0018t0001g0152 | 1 | 283 | 0.0035 | 10 | c.307 others(19): Show |
p.Glu others(6): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 24/29 | 3300/5138 | 3083/3774 | 1028/1257 | chrX | TogoVar | ||
L1CAM_chrX_153856516_153891173 | 153864702 | T | TC | frameshift_variant others(1): Show |
HIGH | NA19006.hp1 | a0016 | a0016c0010 | a0016c0010t0007 | a0016c0010t0007g0175 | 1 | 283 | 0.0035 | 1 | c.304 others(5): Show |
p.Ile others(6): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 24/29 | 3265/5138 | 3048/3774 | 1016/1257 | chrX | TogoVar | ||
L1CAM_chrX_153856516_153891173 | 153864864 | AG | A | frameshift_variant | HIGH | NA19006.hp1 | a0016 | a0016c0010 | a0016c0010t0007 | a0016c0010t0007g0175 | 1 | 283 | 0.0035 | -1 | c.300 others(5): Show |
p.Pro others(6): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 23/29 | 3219/5138 | 3002/3774 | 1001/1257 | chrX | TogoVar | ||
L1CAM_chrX_153856516_153891173 | 153864902 | A | AC | frameshift_variant | HIGH | HG01928.hp1 | a0011 | a0011c0017 | a0011c0017t0003 | a0011c0017t0003g0141 | 1 | 283 | 0.0035 | 1 | c.296 others(5): Show |
p.Tyr others(5): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 23/29 | 3181/5138 | 2964/3774 | 988/1257 | chrX | TogoVar |