| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CFAP410_chr21_44323944_44344390 | 44330246 | G | GCTGCCCA others(27): Show |
frameshift_variant | HIGH | HG02647.hp1 | a0000 | a0000c0018 | a0000c0018t0001 | a0000c0018t0001g0152 | 1 | 436 | 0.0023 | 34 | c.689 others(41): Show |
p.Ser others(5): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 7/7 | 918/2221 | 722/771 | 241/256 | chr21 | TogoVar | ||
| CFAP45_chr1_159867364_159905165 | 159888493 | A | AACACTGA others(49): Show |
frameshift_variant others(1): Show |
HIGH | HG01261.hp2 | a0016 | a0016c0012 | a0016c0012t0001 | a0016c0012t0001g0091 | 1 | 410 | 0.0024 | 56 | c.275 others(63): Show |
p.Pro others(4): Show |
CFAP45 | ENSG00000213085.10 | transcript | ENST00000368099.9 | protein_coding | 4/12 | 342/1844 | 275/1656 | 92/551 | chr1 | TogoVar | ||
| CFAP47_chrX_35914734_36390317 | 35993252 | TG | T | frameshift_variant | HIGH | NA19091.hp1 | a0029 | a0029c0032 | a0029c0032t0001 | a0029c0032t0001g0205 | 1 | 216 | 0.0046 | -1 | c.303 others(5): Show |
p.Gly others(6): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 18/64 | 3101/9941 | 3035/9564 | 1012/3187 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CFAP47_chrX_35914734_36390317 | 36039010 | AT | A | frameshift_variant | HIGH | NA19012.hp1 | a0035 | a0035c0038 | a0035c0038t0001 | a0035c0038t0001g0004 | 1 | 216 | 0.0046 | -1 | c.384 others(5): Show |
p.Pro others(6): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 25/64 | 3906/9941 | 3840/9564 | 1280/3187 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CFAP47_chrX_35914734_36390317 | 36085353 | A | AC | frameshift_variant | HIGH | NA19082.hp1 | a0025 | a0025c0066 | a0025c0066t0001 | a0025c0066t0001g0170 | 1 | 216 | 0.0046 | 1 | c.473 others(5): Show |
p.Gln others(6): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 30/64 | 4802/9941 | 4736/9564 | 1579/3187 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CFAP47_chrX_35914734_36390317 | 36138438 | G | GA | frameshift_variant | HIGH | HG04115.hp1 | a0044 | a0044c0041 | a0044c0041t0001 | a0044c0041t0001g0096 | 1 | 216 | 0.0046 | 1 | c.551 others(5): Show |
p.Ile others(6): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 35/64 | 5579/9941 | 5513/9564 | 1838/3187 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CFAP53_chr18_50222193_50271495 | 50238649 | CATTTATG others(114): Show |
C | frameshift_variant others(3): Show |
HIGH | NA19059.hp2 | a0007 | a0007c0015 | a0007c0015t0001 | a0007c0015t0001g0112 | 1 | 402 | 0.0025 | -121 | c.121 others(12): Show |
p.Leu others(5): Show |
CFAP53 | ENSG00000172361.6 | transcript | ENST00000398545.5 | protein_coding | 7/8 | 1360/1824 | 1214/1545 | 405/514 | chr18 | TogoVar | ||
| CFAP65_chr2_218997846_219046516 | 219021144 | CTAGGTAC others(20): Show |
C | frameshift_variant others(3): Show |
HIGH | NA19082.hp1 | a0023 | a0023c0027 | a0023c0027t0001 | a0023c0027t0001g0227 | 1 | 322 | 0.0031 | -27 | c.324 others(38): Show |
p.Tyr others(6): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 19/35 | 3240/5778 | 1080/1925 | chr2 | TogoVar | |||
| CFAP65_chr2_218997846_219046516 | 219021254 | T | TGCAGGGA others(3): Show |
frameshift_variant | HIGH | NA19082.hp1 | a0023 | a0023c0027 | a0023c0027t0001 | a0023c0027t0001g0227 | 1 | 322 | 0.0031 | 10 | c.315 others(19): Show |
p.Ser others(6): Show |
CFAP65 | ENSG00000181378.14 | transcript | ENST00000341552.10 | protein_coding | 19/35 | 3233/5946 | 3156/5778 | 1052/1925 | chr2 | TogoVar | ||
| CFAP73_chr12_113144724_113164276 | 113154501 | G | GC | frameshift_variant | HIGH | NA18939.hp2 NA18956.hp2 NA19010.hp1 others(3): Show |
a0003a0005 | a0003c0003a0005c0008 | a0003c0003t0001a0005c0008t0001 | a0003c0003t0001g0012a0005c0008t0001g0069 | 6 | 326 | 0.0184 | 1 | c.557 others(4): Show |
p.Glu others(5): Show |
CFAP73 | ENSG00000186710.12 | transcript | ENST00000335621.11 | protein_coding | 5/8 | 692/1648 | 558/927 | 186/308 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
| CFHR2_chr1_196938738_196964622 | 196950930 | AAATT | A | frameshift_variant | HIGH | HG02523.hp1 NA18945.hp1 NA18969.hp2 others(3): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0013a0002c0004t0001g0050a0002c0004t0001g0051 | 6 | 370 | 0.0162 | -4 | c.334 others(11): Show |
p.Ile others(5): Show |
CFHR2 | ENSG00000080910.14 | transcript | ENST00000367415.8 | protein_coding | 3/5 | 477/1498 | 334/813 | 112/270 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| CHAF1A_chr19_4397640_4448397 | 4409436 | G | GGCCCGAG others(13): Show |
frameshift_variant | HIGH | NA19076.hp2 | a0009 | a0009c0024 | a0009c0024t0002 | a0009c0024t0002g0102 | 1 | 384 | 0.0026 | 20 | c.638 others(27): Show |
p.Lys others(5): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 3/15 | 781/3366 | 658/2871 | 220/956 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| CHD6_chr20_41397083_41623377 | 41421603 | TCACATCA others(37): Show |
T | frameshift_variant | HIGH | NA19086.hp1 | a0009 | a0009c0015 | a0009c0015t0007 | a0009c0015t0007g0307 | 1 | 324 | 0.0031 | -44 | c.498 others(53): Show |
p.Val others(6): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 31/37 | 5092/10719 | 4988/8148 | 1663/2715 | chr20 | TogoVar | ||
| CHGA_chr14_92918150_92940285 | 92931582 | GAGGAGGA others(3): Show |
G | frameshift_variant | HIGH | HG03209.hp1 | a0024 | a0024c0032 | a0024c0032t0001 | a0024c0032t0001g0045 | 1 | 447 | 0.0022 | -10 | c.689 others(17): Show |
p.Glu others(5): Show |
CHGA | ENSG00000100604.13 | transcript | ENST00000216492.10 | protein_coding | 6/8 | 899/1985 | 689/1374 | 230/457 | chr14 | TogoVar | ||
| CHI3L2_chr1_111222713_111248440 | 111236137 | G | GCCCCCCC others(31): Show |
frameshift_variant | HIGH | NA19030.hp1 | a0010 | a0010c0014 | a0010c0014t0003 | a0010c0014t0003g0092 | 1 | 434 | 0.0023 | 38 | c.720 others(45): Show |
p.Ser others(5): Show |
CHI3L2 | ENSG00000064886.14 | transcript | ENST00000369748.9 | protein_coding | 7/11 | 738/1416 | 721/1173 | 241/390 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| CHIA_chr1_111285851_111325563 | 111319160 | A | ATACCCCT others(7): Show |
frameshift_variant | HIGH | NA19043.hp2 | a0013 | a0013c0021 | a0013c0021t0005 | a0013c0021t0005g0140 | 1 | 426 | 0.0024 | 14 | c.957 others(21): Show |
p.Ala others(5): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 10/12 | 1126/1696 | 958/1431 | 320/476 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| CHIA_chr1_111285851_111325563 | 111319160 | A | ATGCCCCT others(7): Show |
frameshift_variant | HIGH | HG02257.hp2 HG02486.hp1 HG02818.hp1 others(1): Show |
a0008 | a0008c0011 | a0008c0011t0002 | a0008c0011t0002g0110a0008c0011t0002g0245a0008c0011t0002g0260others(1): Show | 4 | 426 | 0.0094 | 14 | c.961 others(21): Show |
p.Tyr others(5): Show |
CHIA | ENSG00000134216.19 | transcript | ENST00000369740.6 | protein_coding | 10/12 | 1143/1696 | 975/1431 | 325/476 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| CHIT1_chr1_203211079_203234673 | 203217736 | TACTC | T | frameshift_variant others(3): Show |
HIGH | HG01891.hp1 HG02258.hp2 HG02280.hp2 others(7): Show |
a0007 | a0007c0007a0007c0023 | a0007c0007t0002a0007c0023t0002 | a0007c0007t0002g0021a0007c0007t0002g0023a0007c0007t0002g0073others(2): Show | 10 | 484 | 0.0207 | -4 | c.115 others(15): Show |
p.Leu others(5): Show |
CHIT1 | ENSG00000133063.16 | transcript | ENST00000367229.6 | protein_coding | 10/11 | 1155/1401 | 385/466 | chr1 | TogoVar | |||
| CHMP4A_chr14_24204615_24218488 | 24210370 | A | AGAAGGTA others(6): Show |
frameshift_variant others(1): Show |
HIGH | NA19006.hp1 | a0007 | a0007c0005 | a0007c0005t0001 | a0007c0005t0001g0050 | 1 | 418 | 0.0024 | 13 | c.575 others(20): Show |
p.Thr others(5): Show |
CHMP4A | ENSG00000254505.11 | transcript | ENST00000347519.12 | protein_coding | 5/6 | 636/980 | 587/669 | 196/222 | chr14 | TogoVar | ||
| CHM_chrX_85856180_86052558 | 85864729 | TA | T | frameshift_variant | HIGH | NA18959.hp1 | a0006 | a0006c0010 | a0006c0010t0017 | a0006c0010t0017g0033 | 1 | 245 | 0.0041 | -1 | c.186 others(5): Show |
p.Leu others(5): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 15/15 | 1888/5438 | 1862/1962 | 621/653 | chrX | TogoVar | ||
| CHM_chrX_85856180_86052558 | 85864802 | TC | T | frameshift_variant | HIGH | NA18959.hp1 | a0006 | a0006c0010 | a0006c0010t0017 | a0006c0010t0017g0033 | 1 | 245 | 0.0041 | -1 | c.178 others(5): Show |
p.Glu others(5): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 15/15 | 1815/5438 | 1789/1962 | 597/653 | chrX | TogoVar | ||
| CHM_chrX_85856180_86052558 | 85963837 | TC | T | frameshift_variant | HIGH | NA19089.hp2 | a0007 | a0007c0007 | a0007c0007t0023 | a0007c0007t0023g0162 | 1 | 245 | 0.0041 | -1 | c.529 others(4): Show |
p.Glu others(5): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 5/15 | 555/5438 | 529/1962 | 177/653 | chrX | TogoVar | ||
| CHRDL2_chr11_74691429_74736426 | 74713457 | C | CG | frameshift_variant | HIGH | HG00558.hp2 HG02027.hp2 NA18972.hp2 others(6): Show |
a0002 | a0002c0010a0002c0011a0002c0012others(3): Show | a0002c0010t0001a0002c0010t0002a0002c0011t0001others(5): Show | a0002c0010t0001g0071a0002c0010t0002g0335a0002c0011t0001g0132others(6): Show | 9 | 392 | 0.0230 | 1 | c.217 others(4): Show |
p.Arg others(4): Show |
CHRDL2 | ENSG00000054938.17 | transcript | ENST00000376332.8 | protein_coding | 3/11 | 755/1908 | 217/1290 | 73/429 | chr11 | TogoVar | ||
| CHRFAM7A_chr15_30355566_30398540 | 30373077 | TCA | T | frameshift_variant | HIGH | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(50): Show |
a0001 | a0001c0001a0001c0007a0001c0018others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0045a0001c0001t0001g0048others(49): Show | 53 | 133 | 0.3985 | -2 | c.227 others(9): Show |
p.Leu others(4): Show |
CHRFAM7A | ENSG00000166664.15 | transcript | ENST00000299847.7 | protein_coding | 6/10 | 673/3411 | 227/1239 | 76/412 | chr15 | TogoVar | ||
| CHRM1_chr11_62903679_62926363 | 62910396 | A | AC | frameshift_variant | HIGH | HG00639.hp2 HG01099.hp2 HG01106.hp2 others(12): Show |
a0002 | a0002c0004a0002c0007 | a0002c0004t0001a0002c0004t0003a0002c0007t0001 | a0002c0004t0001g0058a0002c0004t0001g0064a0002c0004t0001g0088others(12): Show | 15 | 420 | 0.0357 | 1 | c.704 others(4): Show |
p.Gly others(5): Show |
CHRM1 | ENSG00000168539.4 | transcript | ENST00000306960.4 | protein_coding | 2/2 | 928/2646 | 704/1383 | 235/460 | chr11 | TogoVar | ||
| CHRNA4_chr20_63338223_63366349 | 63349743 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG01255.hp2 HG02080.hp2 others(4): Show |
a0000 | a0000c0006a0000c0014a0000c0017 | a0000c0006t0003a0000c0006t0004a0000c0006t0006others(4): Show | a0000c0006t0003g0109a0000c0006t0004g0095a0000c0006t0006g0093others(4): Show | 7 | 168 | 0.0417 | 1 | c.166 others(5): Show |
p.His others(5): Show |
CHRNA4 | ENSG00000101204.18 | transcript | ENST00000370263.9 | protein_coding | 5/6 | 1851/5583 | 1667/1884 | 556/627 | chr20 | TogoVar | ||
| CHST7_chrX_46568765_46603496 | 46574281 | TG | T | frameshift_variant | HIGH | NA19075.hp1 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0190 | 1 | 311 | 0.0032 | -1 | c.353 others(4): Show |
p.Gly others(5): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 1/2 | 520/2396 | 353/1461 | 118/486 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CHST7_chrX_46568765_46603496 | 46574555 | TG | T | frameshift_variant | HIGH | NA19075.hp1 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0190 | 1 | 311 | 0.0032 | -1 | c.626 others(4): Show |
p.Gly others(5): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 1/2 | 793/2396 | 626/1461 | 209/486 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CHST7_chrX_46568765_46603496 | 46574841 | A | AC | frameshift_variant | HIGH | NA19030.hp2 NA19075.hp1 |
a0002a0003 | a0002c0006a0003c0007 | a0002c0006t0005a0003c0007t0001 | a0002c0006t0005g0190a0003c0007t0001g0007 | 2 | 311 | 0.0064 | 1 | c.913 others(4): Show |
p.Arg others(5): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 1/2 | 1081/2396 | 914/1461 | 305/486 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CHST7_chrX_46568765_46603496 | 46575267 | G | GT | frameshift_variant | HIGH | NA19075.hp1 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0190 | 1 | 311 | 0.0032 | 1 | c.133 others(5): Show |
p.Glu others(5): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 1/2 | 1505/2396 | 1338/1461 | 446/486 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CHST7_chrX_46568765_46603496 | 46575303 | G | GC | frameshift_variant | HIGH | NA19075.hp1 | a0002 | a0002c0006 | a0002c0006t0005 | a0002c0006t0005g0190 | 1 | 311 | 0.0032 | 1 | c.137 others(5): Show |
p.Tyr others(5): Show |
CHST7 | ENSG00000147119.4 | transcript | ENST00000276055.4 | protein_coding | 1/2 | 1542/2396 | 1375/1461 | 459/486 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CHTF18_chr16_783620_803074 | 794066 | C | CCAGGACC others(3): Show |
frameshift_variant | HIGH | NA19076.hp1 | a0029 | a0029c0076 | a0029c0076t0001 | a0029c0076t0001g0237 | 1 | 428 | 0.0023 | 10 | c.181 others(19): Show |
p.Leu others(5): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 15/22 | 1892/3092 | 1827/2928 | 609/975 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| CIAPIN1_chr16_57423187_57452385 | 57431202 | A | AGGGGGGG others(42): Show |
frameshift_variant | HIGH | NA19000.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0172 | 1 | 390 | 0.0026 | 49 | c.694 others(56): Show |
p.Leu others(5): Show |
CIAPIN1 | ENSG00000005194.15 | transcript | ENST00000394391.9 | protein_coding | 7/9 | 793/2021 | 694/939 | 232/312 | chr16 | TogoVar | ||
| CIB1_chr15_90224975_90238941 | 90231150 | C | CCCGTGAG others(12): Show |
frameshift_variant | HIGH | HG03710.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0055 | 1 | 460 | 0.0022 | 19 | c.391 others(26): Show |
p.Gly others(5): Show |
CIB1 | ENSG00000185043.13 | transcript | ENST00000328649.11 | protein_coding | 5/7 | 465/1141 | 409/576 | 137/191 | chr15 | TogoVar | ||
| CITED1_chrX_72296646_72310914 | 72302014 | C | CA | frameshift_variant | HIGH | NA18987.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0020 | 1 | 302 | 0.0033 | 1 | c.290 others(4): Show |
p.Gln others(4): Show |
CITED1 | ENSG00000125931.11 | transcript | ENST00000651998.1 | protein_coding | 3/3 | 445/814 | 290/582 | 97/193 | chrX | TogoVar | ||
| CITED1_chrX_72296646_72310914 | 72302156 | AC | A | frameshift_variant | HIGH | NA18987.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0031 | 1 | 302 | 0.0033 | -1 | c.148 others(4): Show |
p.Val others(4): Show |
CITED1 | ENSG00000125931.11 | transcript | ENST00000651998.1 | protein_coding | 3/3 | 303/814 | 148/582 | 50/193 | chrX | TogoVar | ||
| CKS2_chr9_89306195_89321703 | 89315103 | G | GGTACATG others(61): Show |
frameshift_variant others(2): Show |
HIGH | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 440 | 0.0023 | 68 | c.60- others(76): Show |
p.His others(4): Show |
CKS2 | ENSG00000123975.5 | transcript | ENST00000314355.7 | protein_coding | 2/3 | 160/616 | 62/240 | 21/79 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| CLASRP_chr19_45034045_45075956 | 45064224 | C | CT | frameshift_variant others(1): Show |
HIGH | HG02886.hp2 HG02970.hp2 NA18963.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0022a0003c0003t0001g0027a0003c0003t0001g0086others(3): Show | 6 | 364 | 0.0165 | 1 | c.111 others(10): Show |
p.Arg others(5): Show |
CLASRP | ENSG00000104859.15 | transcript | ENST00000221455.8 | protein_coding | 12/21 | 1212/2229 | 1119/2025 | 373/674 | chr19 | TogoVar | ||
| CLCN4_chrX_10151975_10242660 | 10194993 | T | TA | frameshift_variant | HIGH | NA18974.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0196 | 1 | 264 | 0.0038 | 1 | c.328 others(4): Show |
p.Ser others(5): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 5/13 | 729/6759 | 329/2283 | 110/760 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CLCN4_chrX_10151975_10242660 | 10195054 | C | CT | frameshift_variant | HIGH | NA18974.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0196 | 1 | 264 | 0.0038 | 1 | c.388 others(8): Show |
p.Pro others(5): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 5/13 | 789/6759 | 389/2283 | 130/760 | chrX | TogoVar | ||
| CLCN4_chrX_10151975_10242660 | 10214005 | T | TC | frameshift_variant | HIGH | NA19072.hp1 | a0003 | a0003c0006 | a0003c0006t0027 | a0003c0006t0027g0248 | 1 | 264 | 0.0038 | 1 | c.190 others(5): Show |
p.Val others(5): Show |
CLCN4 | ENSG00000073464.13 | transcript | ENST00000380833.9 | protein_coding | 11/13 | 2306/6759 | 1906/2283 | 636/760 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CLCN5_chrX_49917596_50104230 | 50080655 | TC | T | frameshift_variant | HIGH | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0019 | a0003c0008t0019g0039 | 1 | 175 | 0.0057 | -1 | c.667 others(4): Show |
p.Ala others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/15 | 1068/9863 | 667/2451 | 223/816 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CLCN5_chrX_49917596_50104230 | 50080678 | G | GT | frameshift_variant | HIGH | NA18974.hp1 | a0003 | a0003c0008 | a0003c0008t0019 | a0003c0008t0019g0039 | 1 | 175 | 0.0057 | 1 | c.689 others(4): Show |
p.Phe others(5): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 8/15 | 1091/9863 | 690/2451 | 230/816 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CLCN7_chr16_1439935_1480028 | 1457328 | T | TCGGCCCT others(193): Show |
frameshift_variant others(1): Show |
HIGH | HG01074.hp2 HG03239.hp1 |
a0005 | a0005c0014 | a0005c0014t0001 | a0005c0014t0001g0116a0005c0014t0001g0117 | 2 | 404 | 0.0050 | 200 | c.747 others(207): Show |
p.Met others(5): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 9/25 | 801/4168 | 747/2418 | 249/805 | chr16 | TogoVar | ||
| CLCNKA_chr1_16017036_16039050 | 16032231 | G | GAGGGCCC others(9198): Show |
frameshift_variant others(1): Show |
HIGH | NA19003.hp1 | a0019 | a0019c0030 | a0019c0030t0002 | a0019c0030t0002g0049 | 1 | 392 | 0.0026 | 9205 | c.180 others(9214): Show |
p.Ala others(5): Show |
CLCNKA | ENSG00000186510.12 | transcript | ENST00000331433.5 | protein_coding | 17/20 | 1840/2491 | 1805/2064 | 602/687 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
| CLDN34_chrX_9962358_9973352 | 9967491 | A | AC | frameshift_variant | HIGH | NA18978.hp2 NA18985.hp1 |
a0004 | a0004c0006a0004c0007 | a0004c0006t0006a0004c0007t0001 | a0004c0006t0006g0000a0004c0007t0001g0000 | 2 | 330 | 0.0061 | 1 | c.140 others(4): Show |
p.Gly others(4): Show |
CLDN34 | ENSG00000234469.4 | transcript | ENST00000445307.4 | protein_coding | 1/1 | 141/995 | 141/645 | 47/214 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CLDN34_chrX_9962358_9973352 | 9967798 | G | GA | frameshift_variant | HIGH | NA18978.hp2 | a0004 | a0004c0006 | a0004c0006t0006 | a0004c0006t0006g0000 | 1 | 330 | 0.0030 | 1 | c.443 others(4): Show |
p.Asn others(5): Show |
CLDN34 | ENSG00000234469.4 | transcript | ENST00000445307.4 | protein_coding | 1/1 | 444/995 | 444/645 | 148/214 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| CLDN4_chr7_73825996_73837690 | 73831717 | CCTGCTGC others(10): Show |
C | frameshift_variant | HIGH | HG01109.hp1 | a0000 | a0000c0005 | a0000c0005t0002 | a0000c0005t0002g0000 | 1 | 372 | 0.0027 | -17 | c.517 others(24): Show |
p.Leu others(5): Show |
CLDN4 | ENSG00000189143.10 | transcript | ENST00000340958.4 | protein_coding | 1/1 | 723/1695 | 517/630 | 173/209 | chr7 | TogoVar | ||
| CLDN9_chr16_3007923_3019505 | 3013938 | G | GC | frameshift_variant | HIGH | HG00642.hp1 HG01928.hp2 HG02145.hp2 others(9): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002a0000c0002t0003others(1): Show | a0000c0002t0001g0000a0000c0002t0002g0000a0000c0002t0003g0000others(1): Show | 12 | 428 | 0.0280 | 1 | c.580 others(4): Show |
p.Arg others(5): Show |
CLDN9 | ENSG00000213937.4 | transcript | ENST00000445369.3 | protein_coding | 1/1 | 1021/1583 | 581/654 | 194/217 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| CLIC2_chrX_155271211_155339614 | 155277957 | A | AG | frameshift_variant | HIGH | NA19089.hp1 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0107 | 1 | 258 | 0.0039 | 1 | c.689 others(4): Show |
p.Glu others(5): Show |
CLIC2 | ENSG00000155962.13 | transcript | ENST00000369449.7 | protein_coding | 6/6 | 876/2623 | 689/744 | 230/247 | chrX | TogoVar |