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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CTNNA2_chr2_79508051_80653780 | 80616690 | G | GCTAAT | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00673.hp1 others(44): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(44): Show |
47 | 68 | 0.6912 | 5 | c.243 others(24): Show |
CTNNA2 | ENSG00000066032.19 | transcript | ENST00000402739.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CTNNA3_chr10_65907523_67701195 | 66024085 | A | ATTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02622.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0003a0001c0001t0016a0001c0001t0020others(9): Show | a0001c0001t0003g0023 a0001c0001t0016g0003 a0001c0001t0020g0030 others(10): Show |
13 | 46 | 0.2826 | 5 | c.216 others(26): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 15/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 66035537 | A | ATTTTT | intron_variant | MODIFIER | HG02622.hp1 HG02965.hp1 HG03130.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0010 | a0001c0001t0004a0001c0001t0007a0002c0002t0026others(1): Show | a0001c0001t0004g0041 a0001c0001t0007g0020 a0002c0002t0026g0046 others(1): Show |
4 | 46 | 0.0870 | 5 | c.215 others(26): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 15/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 66360666 | C | CCTTTT | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 a0001c0001t0006g0008 |
2 | 46 | 0.0435 | 5 | c.173 others(26): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 12/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 66493599 | A | ATTTTT | intron_variant | MODIFIER | HG01070.hp2 HG01243.hp1 HG02647.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0003t0011others(4): Show | a0001c0001t0001g0015 a0001c0001t0012g0038 a0001c0003t0011g0032 others(4): Show |
7 | 46 | 0.1522 | 5 | c.153 others(26): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 11/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 66496321 | C | CAAAAT | intron_variant | MODIFIER | HG01070.hp2 HG01243.hp1 HG02622.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(9): Show | a0001c0001t0001g0015 a0001c0001t0003g0023 a0001c0001t0012g0038 others(9): Show |
12 | 46 | 0.2609 | 5 | c.153 others(26): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 11/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 66516063 | G | GAAAAA | intron_variant | MODIFIER | HG01070.hp1 HG02280.hp2 HG02818.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0016a0001c0001t0020others(5): Show | a0001c0001t0004g0041 a0001c0001t0016g0003 a0001c0001t0020g0030 others(5): Show |
8 | 46 | 0.1739 | 5 | c.153 others(24): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 11/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 66718617 | T | TTATAA | intron_variant | MODIFIER | NA18960.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0041 a0001c0001t0024g0044 |
2 | 46 | 0.0435 | 5 | c.128 others(26): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 9/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 66720855 | G | GAAAAC | intron_variant | MODIFIER | NA18960.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0041 a0001c0001t0024g0044 |
2 | 46 | 0.0435 | 5 | c.128 others(26): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 9/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 66895054 | C | CAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02717.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0006a0001c0001t0008a0001c0001t0012others(2): Show | a0001c0001t0006g0027 a0001c0001t0008g0004 a0001c0001t0012g0038 others(2): Show |
5 | 46 | 0.1087 | 5 | c.104 others(28): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 66986495 | T | TCAAAA | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG02622.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0001g0006 a0001c0001t0004g0041 a0001c0001t0006g0007 others(13): Show |
16 | 46 | 0.3478 | 5 | c.104 others(28): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 67067300 | C | CTTTAA | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01243.hp1 others(22): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(21): Show | a0001c0001t0002g0024 a0001c0001t0003g0023 a0001c0001t0005g0010 others(22): Show |
25 | 46 | 0.5435 | 5 | c.104 others(28): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 67156900 | G | GTTATA | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp1 HG01081.hp2 others(35): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0002g0009 others(35): Show |
38 | 46 | 0.8261 | 5 | c.104 others(26): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 7/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 67268308 | A | ATAAAT | intron_variant | MODIFIER | HG01081.hp2 HG02145.hp2 HG02280.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0002g0024 a0001c0001t0003g0023 a0001c0001t0006g0007 others(14): Show |
17 | 46 | 0.3696 | 5 | c.580 others(24): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 5/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 67488672 | C | CTTTTT | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02145.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0024 a0001c0001t0003g0023 a0001c0001t0004g0041 others(15): Show |
18 | 46 | 0.3913 | 5 | c.579 others(24): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 5/17 | chr10 | TogoVar | |||||||
CTNNA3_chr10_65907523_67701195 | 67652734 | C | CTTATA | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01243.hp1 others(31): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0002g0024 others(31): Show |
34 | 46 | 0.7391 | 5 | c.-5- others(20): Show |
CTNNA3 | ENSG00000183230.18 | transcript | ENST00000433211.7 | protein_coding | 1/17 | chr10 | TogoVar | |||||||
CTNNAL1_chr9_108937577_109018499 | 108953520 | T | TAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00558.hp2 others(79): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0006others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0006t0001others(2): Show | a0001c0001t0001g0019 a0002c0002t0001g0002 a0002c0002t0001g0004 others(65): Show |
82 | 420 | 0.1952 | 5 | c.163 others(24): Show |
CTNNAL1 | ENSG00000119326.15 | transcript | ENST00000325551.9 | protein_coding | 12/18 | chr9 | TogoVar | |||||||
CTNNB1_chr3_41194505_41245443 | 41237446 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(18): Show | a0001c0001t0002g0001 a0001c0001t0002g0009 a0001c0001t0002g0011 others(59): Show |
71 | 342 | 0.2076 | 5 | c.207 others(22): Show |
CTNNB1 | ENSG00000168036.18 | transcript | ENST00000349496.11 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CTNNB1_chr3_41194505_41245443 | 41241542 | A | AAACTT | downstream_gene_variant | MODIFIER | HG00673.hp1 HG01074.hp1 HG01167.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0014a0001c0001t0017a0001c0001t0019others(9): Show | a0001c0001t0014g0019 a0001c0001t0014g0049 a0001c0001t0014g0050 others(16): Show |
22 | 342 | 0.0643 | 5 | c.*22 others(16): Show |
CTNNB1 | ENSG00000168036.18 | transcript | ENST00000349496.11 | protein_coding | 1100 | chr3 | TogoVar | |||||||
CTNNBIP1_chr1_9843276_9915269 | 9894905 | A | ATTTTT | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG02622.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 a0001c0001t0004g0010 a0001c0001t0004g0041 others(9): Show |
14 | 310 | 0.0452 | 5 | c.-14 others(26): Show |
CTNNBIP1 | ENSG00000178585.15 | transcript | ENST00000377263.6 | protein_coding | 1/5 | chr1 | TogoVar | |||||||
CTNND1_chr11_57756802_57824540 | 57780071 | T | TTTTTG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(166): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(149): Show |
169 | 288 | 0.5868 | 5 | c.-21 others(24): Show |
CTNND1 | ENSG00000198561.16 | transcript | ENST00000399050.10 | protein_coding | 1/20 | chr11 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11053723 | T | TTAAAA | intron_variant | MODIFIER | HG03130.hp1 HG03471.hp2 NA18522.hp2 |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0001c0001t0003a0002c0008t0001 | a0001c0001t0001g0024 a0001c0001t0003g0026 a0002c0008t0001g0014 |
3 | 26 | 0.1154 | 5 | c.278 others(26): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 16/21 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11128795 | T | TAAATA | intron_variant | MODIFIER | HG00738.hp2 HG03130.hp1 HG03471.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0008 | a0001c0001t0001a0001c0001t0003a0001c0007t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0017 others(3): Show |
6 | 26 | 0.2308 | 5 | c.216 others(26): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 12/21 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11233933 | A | ACCCTT | intron_variant | MODIFIER | HG03209.hp1 NA18522.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0022 a0001c0002t0001g0006 |
3 | 26 | 0.1154 | 5 | c.176 others(24): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 10/21 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11250519 | A | ACATAT | intron_variant | MODIFIER | HG02258.hp2 HG03130.hp2 HG03471.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0002others(1): Show | a0001c0001t0001g0004 a0001c0002t0001g0013 a0001c0006t0002g0025 others(1): Show |
4 | 26 | 0.1539 | 5 | c.162 others(26): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 9/21 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11283705 | A | AAAAAG | intron_variant | MODIFIER | HG02258.hp2 HG03130.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0024 a0001c0001t0003g0026 a0001c0002t0001g0013 |
3 | 26 | 0.1154 | 5 | c.162 others(26): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 9/21 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11399388 | T | TAAAAC | intron_variant | MODIFIER | HG02647.hp1 HG03225.hp1 HG03453.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0001a0001c0002t0001a0002c0008t0001 | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0018 others(3): Show |
6 | 26 | 0.2308 | 5 | c.440 others(22): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 5/21 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11458273 | T | TGCTGG | intron_variant | MODIFIER | HG02258.hp2 HG03130.hp1 NA18522.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0003a0001c0002t0001a0002c0008t0001 | a0001c0001t0003g0026 a0001c0002t0001g0013 a0002c0008t0001g0014 |
3 | 26 | 0.1154 | 5 | c.288 others(24): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11768267 | A | AGTTTT | intron_variant | MODIFIER | HG02258.hp2 HG03130.hp1 HG03209.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0016 a0001c0001t0003g0026 a0001c0002t0001g0013 others(2): Show |
5 | 26 | 0.1923 | 5 | c.38- others(22): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11771192 | C | CTTTTT | intron_variant | MODIFIER | HG02258.hp2 HG02647.hp1 HG03130.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0003g0026 others(1): Show |
4 | 26 | 0.1539 | 5 | c.38- others(22): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
CTNND2_chr5_10966836_11909446 | 11842720 | G | GAAAAA | intron_variant | MODIFIER | HG02922.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0018 |
2 | 26 | 0.0769 | 5 | c.37+ others(22): Show |
CTNND2 | ENSG00000169862.21 | transcript | ENST00000304623.13 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
CTNS_chr17_3631760_3668103 | 3651973 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(78): Show |
a0001a0007a0011 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(26): Show | a0001c0001t0002g0045 a0001c0001t0002g0095 a0001c0001t0002g0113 others(68): Show |
81 | 372 | 0.2177 | 5 | c.226 others(22): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CTNS_chr17_3631760_3668103 | 3651978 | A | AAAAAG | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01891.hp2 others(28): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0046a0001c0001t0047a0002c0002t0004others(5): Show | a0001c0001t0046g0292 a0001c0001t0047g0289 a0002c0002t0004g0003 others(22): Show |
31 | 372 | 0.0833 | 5 | c.226 others(22): Show |
CTNS | ENSG00000040531.16 | transcript | ENST00000046640.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CTPS1_chr1_40974696_41017565 | 41000215 | A | ATGTTT | intron_variant | MODIFIER | HG02572.hp1 HG06807.hp2 NA18962.hp1 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0010 | a0001c0001t0001g0068 a0001c0001t0001g0124 a0001c0001t0001g0139 others(3): Show |
6 | 388 | 0.0155 | 5 | c.100 others(22): Show |
CTPS1 | ENSG00000171793.17 | transcript | ENST00000650070.2 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CTPS2_chrX_16582999_16717669 | 16603416 | A | AAAAAT | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 226 | 0.0044 | 5 | c.169 others(24): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 17/18 | chrX | TogoVar | |||||||
CTPS2_chrX_16582999_16717669 | 16623792 | C | CTTTTT | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 1 | 226 | 0.0044 | 5 | c.139 others(24): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 14/18 | chrX | TogoVar | |||||||
CTPS2_chrX_16582999_16717669 | 16639777 | A | AAAAAG | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp2 HG01258.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0028 a0001c0001t0002g0041 a0001c0001t0002g0064 others(7): Show |
10 | 226 | 0.0443 | 5 | c.129 others(22): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | TogoVar | |||||||
CTPS2_chrX_16582999_16717669 | 16647255 | C | CTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0163 a0001c0001t0008g0178 |
2 | 226 | 0.0089 | 5 | c.129 others(24): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | TogoVar | |||||||
CTPS2_chrX_16582999_16717669 | 16648432 | T | TTGAAA | intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 226 | 0.0044 | 5 | c.129 others(24): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 13/18 | chrX | TogoVar | |||||||
CTPS2_chrX_16582999_16717669 | 16674115 | A | ATTTTT | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0084 a0001c0001t0002g0043 a0001c0001t0002g0219 |
3 | 226 | 0.0133 | 5 | c.109 others(24): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 10/18 | chrX | TogoVar | |||||||
CTPS2_chrX_16582999_16717669 | 16688765 | G | GCAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(136): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0014 others(136): Show |
139 | 226 | 0.6150 | 5 | c.872 others(20): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 8/18 | chrX | TogoVar | |||||||
CTPS2_chrX_16582999_16717669 | 16709848 | C | CAAAAA | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0215 | 1 | 226 | 0.0044 | 5 | c.-40 others(22): Show |
CTPS2 | ENSG00000047230.15 | transcript | ENST00000359276.9 | protein_coding | 1/18 | chrX | TogoVar | |||||||
CTR9_chr11_10746246_10784746 | 10764476 | A | AAGTTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(13): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(131): Show |
270 | 406 | 0.6650 | 5 | c.141 others(20): Show |
CTR9 | ENSG00000198730.9 | transcript | ENST00000361367.7 | protein_coding | 11/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CTSB_chr8_11837524_11873087 | 11869602 | A | AAAAAG | upstream_gene_variant | MODIFIER | NA18947.hp1 NA18949.hp1 NA18959.hp1 others(7): Show |
a0001a0002a0013 | a0001c0003a0002c0002a0013c0024 | a0001c0003t0001a0002c0002t0001a0002c0002t0062others(1): Show | a0001c0003t0001g0091 a0002c0002t0001g0001 a0002c0002t0001g0005 others(7): Show |
10 | 438 | 0.0228 | 5 | c.-16 others(16): Show |
CTSB | ENSG00000164733.23 | transcript | ENST00000353047.11 | protein_coding | 1516 | chr8 | TogoVar | |||||||
CTSC_chr11_88288592_88342736 | 88291566 | A | AAAAAG | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00597.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0013 others(29): Show |
39 | 434 | 0.0899 | 5 | c.*24 others(16): Show |
CTSC | ENSG00000109861.17 | transcript | ENST00000227266.10 | protein_coding | 2025 | chr11 | TogoVar | |||||||
CTSC_chr11_88288592_88342736 | 88308472 | A | ATTATT | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00733.hp2 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0122 a0002c0002t0001g0005 a0002c0002t0001g0016 others(28): Show |
42 | 434 | 0.0968 | 5 | c.641 others(20): Show |
CTSC | ENSG00000109861.17 | transcript | ENST00000227266.10 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
CTSF_chr11_66558464_66573606 | 66572169 | C | CAAAAT | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01884.hp1 others(2): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0004a0001c0007t0004 | a0001c0002t0004g0023 a0001c0007t0004g0017 |
5 | 412 | 0.0121 | 5 | c.-36 others(16): Show |
CTSF | ENSG00000174080.12 | transcript | ENST00000310325.10 | protein_coding | 3564 | chr11 | TogoVar | |||||||
CTSS_chr1_150725188_150770778 | 150743612 | A | ATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(78): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0011a0003c0003t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(60): Show |
81 | 344 | 0.2355 | 5 | c.896 others(22): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
CTSS_chr1_150725188_150770778 | 150743643 | A | ATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(150): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0009 others(123): Show |
153 | 344 | 0.4448 | 5 | c.896 others(22): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
CTSS_chr1_150725188_150770778 | 150753940 | C | CAAACA | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(103): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0005others(2): Show | a0002c0002t0002g0002 a0002c0002t0002g0004 a0002c0002t0002g0005 others(79): Show |
106 | 344 | 0.3081 | 5 | c.399 others(22): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 4/7 | chr1 | TogoVar |