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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CSMD3_chr8_112217928_113441939 | 112472706 | C | T | splice_region_variant others(1): Show |
LOW | HG04115.hp1 HG04115.hp2 |
a0001a0003 | a0001c0021a0003c0020 | a0001c0021t0004a0003c0020t0001 | a0001c0021t0004g0037a0003c0020t0001g0080 | 2 | 80 | 0.0250 | 0 | c.528 others(4): Show |
p.Ala others(7): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 32/71 | 5365/13052 | 5280/11124 | 1760/3707 | chr8 | TogoVar | ||
CSMD3_chr8_112217928_113441939 | 112503980 | G | A | splice_region_variant others(1): Show |
LOW | HG00423.hp1 HG00438.hp1 HG00741.hp2 others(50): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0006a0001c0007others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0016a0001c0001t0002g0014a0001c0001t0002g0022others(50): Show | 53 | 80 | 0.6625 | 0 | c.489 others(6): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 29/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 112650354 | A | C | splice_region_variant others(1): Show |
LOW | HG00741.hp2 HG01074.hp1 HG01081.hp2 others(13): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0019others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0016a0001c0001t0002g0025a0001c0001t0003g0023others(13): Show | 16 | 80 | 0.2000 | 0 | c.300 others(6): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 18/70 | chr8 | TogoVar | ||||||
CSMD3_chr8_112217928_113441939 | 113098968 | T | A | splice_region_variant others(1): Show |
LOW | HG00673.hp1 HG02258.hp2 HG02559.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0016others(7): Show | a0001c0001t0001a0001c0001t0007a0001c0006t0003others(8): Show | a0001c0001t0001g0016a0001c0001t0007g0045a0001c0006t0003g0055others(10): Show | 13 | 80 | 0.1625 | 0 | c.710 others(5): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 4/70 | chr8 | TogoVar | ||||||
CSN1S1_chr4_69926068_69951574 | 69934249 | A | G | splice_region_variant others(1): Show |
LOW | HG01123.hp2 HG02300.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0051 | 2 | 448 | 0.0045 | 0 | c.84+ others(4): Show |
CSN1S1 | ENSG00000126545.14 | transcript | ENST00000246891.9 | protein_coding | 3/15 | chr4 | TogoVar | ||||||
CSN1S1_chr4_69926068_69951574 | 69937821 | G | A | missense_variant others(1): Show |
MODERATE | HG02630.hp1 | a0005 | a0005c0015 | a0005c0015t0001 | a0005c0015t0001g0100 | 1 | 448 | 0.0022 | 0 | c.241 others(3): Show |
p.Glu others(5): Show |
CSN1S1 | ENSG00000126545.14 | transcript | ENST00000246891.9 | protein_coding | 9/16 | 303/998 | 241/558 | 81/185 | chr4 | TogoVar | ||
CSN1S1_chr4_69926068_69951574 | 69940044 | G | A | splice_region_variant others(1): Show |
LOW | HG01515.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0080 | 1 | 448 | 0.0022 | 0 | c.300 others(3): Show |
p.Ala others(6): Show |
CSN1S1 | ENSG00000126545.14 | transcript | ENST00000246891.9 | protein_coding | 11/16 | 362/998 | 300/558 | 100/185 | chr4 | TogoVar | ||
CSN2_chr4_69950256_69970728 | 69958901 | C | A | splice_region_variant others(1): Show |
LOW | HG00140.hp2 HG00733.hp1 HG01167.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0034others(3): Show | 18 | 448 | 0.0402 | 0 | c.144 others(5): Show |
CSN2 | ENSG00000135222.7 | transcript | ENST00000353151.4 | protein_coding | 5/7 | chr4 | TogoVar | ||||||
CSN2_chr4_69950256_69970728 | 69961006 | T | G | splice_region_variant | LOW | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0080 | 1 | 448 | 0.0022 | 0 | c.-11 others(3): Show |
CSN2 | ENSG00000135222.7 | transcript | ENST00000353151.4 | protein_coding | 2/8 | chr4 | TogoVar | ||||||
CSN3_chr4_70237597_70256432 | 70248985 | A | AT | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(100): Show |
a0002a0006a0008 | a0002c0002a0002c0007a0006c0011others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0007t0002others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0012a0002c0002t0002g0013others(14): Show | 103 | 464 | 0.2220 | 1 | c.88- others(5): Show |
CSN3 | ENSG00000171209.4 | transcript | ENST00000304954.4 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
CSNK1D_chr17_82237667_82278700 | 82265678 | A | AG | splice_region_variant others(1): Show |
LOW | HG02040.hp1 HG02129.hp2 HG02602.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0026 | a0001c0001t0002g0214a0001c0001t0006g0213a0001c0001t0006g0215others(4): Show | 7 | 320 | 0.0219 | 1 | c.187 others(6): Show |
CSNK1D | ENSG00000141551.15 | transcript | ENST00000314028.11 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
CSNK1E_chr22_38285691_38322433 | 38317160 | C | T | splice_region_variant | LOW | HG02735.hp1 HG03927.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0068a0001c0006t0067 | a0001c0001t0068g0149a0001c0006t0067g0150 | 2 | 412 | 0.0049 | 0 | c.-13 others(3): Show |
CSNK1E | ENSG00000213923.13 | transcript | ENST00000396832.6 | protein_coding | 1/11 | chr22 | TogoVar | ||||||
CSNK1G1_chr15_64160525_64361173 | 64216564 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00323.hp2 HG00621.hp2 others(126): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(126): Show | 129 | 176 | 0.7330 | 0 | c.442 others(3): Show |
p.Leu others(6): Show |
CSNK1G1 | ENSG00000169118.18 | transcript | ENST00000303052.13 | protein_coding | 5/12 | 852/8085 | 442/1269 | 148/422 | chr15 | TogoVar | ||
CSNK1G2_chr19_1936172_1986338 | 1979157 | C | T | splice_region_variant others(1): Show |
LOW | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0288 | 1 | 382 | 0.0026 | 0 | c.683 others(5): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 6/11 | chr19 | TogoVar | ||||||
CSNK1G2_chr19_1936172_1986338 | 1979401 | C | T | missense_variant others(1): Show |
MODERATE | NA18961.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0337 | 1 | 382 | 0.0026 | 0 | c.851 others(3): Show |
p.Pro others(6): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 8/12 | 1363/2895 | 851/1248 | 284/415 | chr19 | TogoVar | ||
CSNK1G2_chr19_1936172_1986338 | 1979402 | A | T | splice_region_variant others(1): Show |
LOW | NA18961.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0337 | 1 | 382 | 0.0026 | 0 | c.852 others(3): Show |
p.Pro others(6): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 8/12 | 1364/2895 | 852/1248 | 284/415 | chr19 | TogoVar | ||
CSNK1G2_chr19_1936172_1986338 | 1979406 | A | C | splice_region_variant others(1): Show |
LOW | NA18961.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0337 | 1 | 382 | 0.0026 | 0 | c.853 others(5): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 8/11 | chr19 | TogoVar | ||||||
CSNK1G2_chr19_1936172_1986338 | 1979407 | A | C | splice_region_variant others(1): Show |
LOW | NA18961.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0337 | 1 | 382 | 0.0026 | 0 | c.853 others(5): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 8/11 | chr19 | TogoVar | ||||||
CSNK1G2_chr19_1936172_1986338 | 1979408 | G | C | splice_region_variant others(1): Show |
LOW | NA18961.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0337 | 1 | 382 | 0.0026 | 0 | c.853 others(5): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 8/11 | chr19 | TogoVar | ||||||
CSNK1G2_chr19_1936172_1986338 | 1979908 | C | T | splice_region_variant others(1): Show |
LOW | HG01346.hp1 HG01358.hp2 HG01934.hp1 others(12): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0005a0002c0003t0003g0006a0002c0003t0003g0017others(10): Show | 15 | 382 | 0.0393 | 0 | c.108 others(6): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 10/11 | chr19 | TogoVar | ||||||
CSNK1G2_chr19_1936172_1986338 | 1980145 | T | G | splice_region_variant others(1): Show |
LOW | HG03209.hp1 | a0002 | a0002c0011 | a0002c0011t0025 | a0002c0011t0025g0013 | 1 | 382 | 0.0026 | 0 | c.119 others(6): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 11/11 | chr19 | TogoVar | ||||||
CSNK1G3_chr5_123507177_123622049 | 123604718 | A | G | splice_region_variant others(1): Show |
LOW | HG02886.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0241a0001c0001t0003g0242 | 2 | 294 | 0.0068 | 0 | c.118 others(6): Show |
CSNK1G3 | ENSG00000151292.19 | transcript | ENST00000696905.1 | protein_coding | 11/13 | chr5 | TogoVar | ||||||
CSNK1G3_chr5_123507177_123622049 | 123604720 | A | G | splice_region_variant others(1): Show |
LOW | HG02280.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0022 | a0001c0001t0009g0143a0001c0001t0022g0155 | 2 | 294 | 0.0068 | 0 | c.118 others(6): Show |
CSNK1G3 | ENSG00000151292.19 | transcript | ENST00000696905.1 | protein_coding | 11/13 | chr5 | TogoVar | ||||||
CSNK1G3_chr5_123507177_123622049 | 123605333 | G | A | splice_region_variant others(1): Show |
LOW | HG03041.hp2 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053a0001c0001t0002g0055 | 2 | 294 | 0.0068 | 0 | c.129 others(6): Show |
CSNK1G3 | ENSG00000151292.19 | transcript | ENST00000696905.1 | protein_coding | 12/13 | chr5 | TogoVar | ||||||
CSNK2A1_chr20_467498_548790 | 497778 | T | C | splice_region_variant others(1): Show |
LOW | HG02809.hp2 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0280a0001c0002t0015g0282 | 2 | 316 | 0.0063 | 0 | c.369 others(3): Show |
p.Gln others(6): Show |
CSNK2A1 | ENSG00000101266.19 | transcript | ENST00000217244.9 | protein_coding | 7/14 | 714/12984 | 369/1176 | 123/391 | chr20 | TogoVar | ||
CSNK2A2_chr16_58152907_58203106 | 58196726 | C | T | splice_region_variant others(1): Show |
LOW | HG01884.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0033 | 2 | 400 | 0.0050 | 0 | c.216 others(5): Show |
CSNK2A2 | ENSG00000070770.10 | transcript | ENST00000262506.8 | protein_coding | 2/11 | chr16 | TogoVar | ||||||
CSNK2B_chr6_31661080_31675067 | 31669179 | G | A | splice_region_variant others(1): Show |
LOW | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 1 | 421 | 0.0024 | 0 | c.367 others(5): Show |
CSNK2B | ENSG00000204435.15 | transcript | ENST00000375882.7 | protein_coding | 5/6 | chr6 | TogoVar | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88338646 | A | G | splice_region_variant others(1): Show |
LOW | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(133): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0004a0002c0002others(11): Show | a0001c0001t0002a0001c0004t0002a0002c0002t0002others(12): Show | a0001c0001t0002g0001a0001c0001t0002g0251a0001c0001t0002g0252others(131): Show | 136 | 386 | 0.3523 | 0 | c.-27 others(6): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88338647 | A | C | splice_region_variant others(1): Show |
LOW | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 386 | 0.0026 | 0 | c.-27 others(6): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
CSPG4_chr15_75669322_75717848 | 75685215 | A | G | splice_region_variant others(1): Show |
LOW | HG02809.hp1 HG03516.hp2 |
a0001 | a0001c0019 | a0001c0019t0009 | a0001c0019t0009g0121a0001c0019t0009g0197 | 2 | 374 | 0.0054 | 0 | c.427 others(6): Show |
CSPG4 | ENSG00000173546.7 | transcript | ENST00000308508.5 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
CSPG5_chr3_47557238_47583865 | 47569234 | A | G | splice_region_variant others(1): Show |
LOW | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 362 | 0.0028 | 0 | c.138 others(6): Show |
CSPG5 | ENSG00000114646.10 | transcript | ENST00000264723.9 | protein_coding | 3/4 | chr3 | TogoVar | ||||||
CSPP1_chr8_67059392_67201614 | 67095289 | A | G | splice_region_variant others(1): Show |
LOW | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 158 | 0.0063 | 0 | c.484 others(5): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 6/30 | chr8 | TogoVar | ||||||
CSPP1_chr8_67059392_67201614 | 67149784 | T | C | splice_region_variant others(1): Show |
LOW | HG02559.hp2 HG03516.hp2 |
a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0145a0002c0007t0002g0146 | 2 | 158 | 0.0127 | 0 | c.197 others(4): Show |
p.Thr others(6): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 18/31 | 2134/4859 | 1977/3681 | 659/1226 | chr8 | TogoVar | ||
CSRNP2_chr12_51056205_51088596 | 51064672 | G | A | splice_region_variant others(1): Show |
LOW | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 420 | 0.0024 | 0 | c.709 others(5): Show |
CSRNP2 | ENSG00000110925.7 | transcript | ENST00000228515.6 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
CSRNP2_chr12_51056205_51088596 | 51064676 | G | A | splice_region_variant others(1): Show |
LOW | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(61): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0017others(32): Show | 64 | 420 | 0.1524 | 0 | c.709 others(5): Show |
CSRNP2 | ENSG00000110925.7 | transcript | ENST00000228515.6 | protein_coding | 4/4 | chr12 | TogoVar | ||||||
CSRP1_chr1_201478530_201512123 | 201490352 | G | A | splice_region_variant others(1): Show |
LOW | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 432 | 0.0023 | 0 | c.113 others(5): Show |
CSRP1 | ENSG00000159176.14 | transcript | ENST00000340006.7 | protein_coding | 2/5 | chr1 | TogoVar | ||||||
CST11_chr20_23445412_23457876 | 23451928 | C | T | splice_region_variant others(1): Show |
LOW | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 446 | 0.0022 | 0 | c.229 others(5): Show |
CST11 | ENSG00000125831.10 | transcript | ENST00000377009.8 | protein_coding | 1/2 | chr20 | TogoVar | ||||||
CST1_chr20_23742562_23755935 | 23747564 | C | T | splice_region_variant | LOW | HG02015.hp1 NA18953.hp1 NA18966.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0013a0002c0003t0006 | a0001c0001t0013g0055a0002c0003t0006g0009 | 7 | 472 | 0.0148 | 0 | c.*25 others(4): Show |
CST1 | ENSG00000170373.9 | transcript | ENST00000304749.7 | protein_coding | 3/3 | chr20 | TogoVar | ||||||
CST1_chr20_23742562_23755935 | 23747902 | G | T | splice_region_variant others(1): Show |
LOW | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 472 | 0.0021 | 0 | c.343 others(5): Show |
CST1 | ENSG00000170373.9 | transcript | ENST00000304749.7 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
CST2_chr20_23818769_23831729 | 23825326 | A | G | splice_region_variant others(1): Show |
LOW | HG02895.hp2 HG02897.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 3 | 470 | 0.0064 | 0 | c.229 others(5): Show |
CST2 | ENSG00000170369.4 | transcript | ENST00000304725.3 | protein_coding | 1/2 | chr20 | TogoVar | ||||||
CST5_chr20_23870934_23884748 | 23877625 | G | A | splice_region_variant others(1): Show |
LOW | NA18940.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0048 | 1 | 446 | 0.0022 | 0 | c.232 others(5): Show |
CST5 | ENSG00000170367.5 | transcript | ENST00000304710.5 | protein_coding | 1/2 | chr20 | TogoVar | ||||||
CST9L_chr20_23559732_23573484 | 23566085 | C | T | splice_region_variant others(1): Show |
LOW | HG01943.hp2 HG02300.hp2 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0021 | 2 | 392 | 0.0051 | 0 | c.243 others(3): Show |
p.Val others(5): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 2/3 | 277/694 | 243/444 | 81/147 | chr20 | TogoVar | ||
CST9L_chr20_23559732_23573484 | 23566093 | G | A | splice_region_variant others(1): Show |
LOW | HG00558.hp2 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 2 | 392 | 0.0051 | 0 | c.241 others(5): Show |
CST9L | ENSG00000101435.5 | transcript | ENST00000376979.4 | protein_coding | 1/2 | chr20 | TogoVar | ||||||
CSTB_chr21_43768950_43781308 | 43774762 | A | G | splice_region_variant others(1): Show |
LOW | HG02895.hp1 HG03579.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0026 | 3 | 452 | 0.0066 | 0 | c.67- others(4): Show |
CSTB | ENSG00000160213.10 | transcript | ENST00000291568.7 | protein_coding | 1/2 | chr21 | TogoVar | ||||||
CSTF2_chrX_100815391_100846520 | 100821522 | C | G | splice_region_variant others(1): Show |
LOW | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 299 | 0.0033 | 0 | c.59- others(4): Show |
CSTF2 | ENSG00000101811.15 | transcript | ENST00000372972.7 | protein_coding | 1/13 | chrX | TogoVar | ||||||
CSTF2_chrX_100815391_100846520 | 100838231 | C | G | splice_region_variant others(1): Show |
LOW | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 299 | 0.0033 | 0 | c.161 others(6): Show |
CSTF2 | ENSG00000101811.15 | transcript | ENST00000372972.7 | protein_coding | 12/13 | chrX | TogoVar | ||||||
CSTF3_chr11_33079584_33166480 | 33096983 | GC | G | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(107): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0006a0001c0001t0002g0103a0001c0001t0002g0106others(89): Show | 110 | 360 | 0.3056 | -1 | c.112 others(7): Show |
CSTF3 | ENSG00000176102.13 | transcript | ENST00000323959.9 | protein_coding | 13/20 | chr11 | TogoVar | ||||||
CT45A10_chrX_135876065_135898444 | 135881321 | G | A | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00423.hp1 HG00423.hp2 others(199): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0004a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0002c0004t0001others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(86): Show | 202 | 258 | 0.7830 | 0 | c.513 others(5): Show |
CT45A10 | ENSG00000269586.8 | transcript | ENST00000682849.1 | protein_coding | 4/4 | chrX | TogoVar | ||||||
CT45A10_chrX_135876065_135898444 | 135882629 | T | A | missense_variant others(1): Show |
MODERATE | NA18906.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0101 | 1 | 258 | 0.0039 | 0 | c.419 others(3): Show |
p.Lys others(6): Show |
CT45A10 | ENSG00000269586.8 | transcript | ENST00000682849.1 | protein_coding | 4/5 | 525/869 | 419/570 | 140/189 | chrX | TogoVar | ||
CT45A10_chrX_135876065_135898444 | 135882631 | TG | T | splice_region_variant others(1): Show |
LOW | NA18906.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0101 | 1 | 258 | 0.0039 | -1 | c.419 others(6): Show |
CT45A10 | ENSG00000269586.8 | transcript | ENST00000682849.1 | protein_coding | 3/4 | chrX | TogoVar |