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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP78_chr9_78231075_78284690 | 78278280 | A | ATTTCC | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG02486.hp2 others(7): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0021a0001c0001t0033a0001c0001t0038others(4): Show | a0001c0001t0021g0012 a0001c0001t0021g0095 a0001c0001t0033g0012 others(6): Show |
10 | 338 | 0.0296 | 5 | c.*74 others(16): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 17/17 | 7432 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CEP78_chr9_78231075_78284690 | 78279066 | G | GAAAAA | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG00735.hp1 others(49): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0013a0001c0001t0015others(19): Show | a0001c0001t0003g0018 a0001c0001t0003g0033 a0001c0001t0003g0092 others(43): Show |
52 | 284 | 0.1831 | 5 | c.*82 others(16): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 17/17 | 8230 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CEP83_chr12_94302698_94464867 | 94331357 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00738.hp2 others(18): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 others(18): Show |
21 | 77 | 0.2727 | 5 | c.170 others(22): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 14/16 | chr12 | TogoVar | |||||||
CEP83_chr12_94302698_94464867 | 94416574 | A | ACACAC | intron_variant | MODIFIER | HG01070.hp2 HG01099.hp2 HG01433.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 a0001c0001t0001g0145 a0001c0001t0001g0148 others(7): Show |
10 | 271 | 0.0369 | 5 | c.-10 others(24): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 2/16 | chr12 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118460150 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(97): Show |
a0002a0003a0005others(3): Show | a0002c0002a0003c0003a0005c0005others(3): Show | a0002c0002t0002a0002c0002t0025a0002c0002t0026others(13): Show | a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 others(97): Show |
100 | 217 | 0.4608 | 5 | c.*52 others(16): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 621 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118460150 | C | CCAAAA | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00733.hp1 others(36): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0016 | a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0003 others(36): Show |
39 | 156 | 0.2500 | 5 | c.*52 others(16): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 621 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118496356 | T | TTTTTA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0002others(3): Show | a0001c0001t0001g0072 a0001c0001t0001g0109 a0001c0001t0001g0113 others(29): Show |
32 | 182 | 0.1758 | 5 | c.125 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 5/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118505409 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00735.hp2 HG01123.hp1 others(21): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0002a0002c0002t0027a0003c0003t0002others(1): Show | a0002c0002t0002g0173 a0002c0002t0002g0179 a0002c0002t0002g0184 others(21): Show |
24 | 71 | 0.3380 | 5 | c.125 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 5/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519474 | G | GTGTGT | intron_variant | MODIFIER | HG02630.hp2 NA19030.hp2 NA20905.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0002c0002t0005a0002c0002t0014 | a0001c0001t0007g0103 a0002c0002t0005g0270 a0002c0002t0014g0274 |
3 | 256 | 0.0117 | 5 | c.113 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118519581 | T | TGTGGC | intron_variant | MODIFIER | HG01993.hp1 HG03927.hp2 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 a0001c0001t0001g0151 a0001c0001t0001g0169 |
3 | 131 | 0.0229 | 5 | c.113 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118600300 | G | GTGTGT | intron_variant | MODIFIER | HG02132.hp2 HG02886.hp1 HG03486.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0022others(1): Show | a0001c0001t0001g0106 a0001c0001t0004g0087 a0001c0001t0004g0089 others(2): Show |
5 | 121 | 0.0413 | 5 | c.232 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118613757 | C | CAAAAA | intron_variant | MODIFIER | HG01515.hp1 HG02257.hp1 HG02451.hp1 others(9): Show |
a0002a0003a0007 | a0002c0002a0003c0003a0007c0007 | a0002c0002t0002a0002c0002t0005a0003c0003t0003others(3): Show | a0002c0002t0002g0217 a0002c0002t0002g0272 a0002c0002t0005g0269 others(9): Show |
12 | 17 | 0.7059 | 5 | c.232 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
CEP85L_chr6_118455772_118656591 | 118637703 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(64): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0005 | a0002c0002t0002a0002c0002t0025a0002c0002t0026others(6): Show | a0002c0002t0002g0173 a0002c0002t0002g0174 a0002c0002t0002g0175 others(64): Show |
67 | 89 | 0.7528 | 5 | c.74- others(20): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 1/12 | chr6 | TogoVar | |||||||
CEP85_chr1_26229200_26283808 | 26248722 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(19): Show |
a0003 | a0003c0003a0003c0005a0003c0007others(1): Show | a0003c0003t0004a0003c0003t0006a0003c0005t0004others(2): Show | a0003c0003t0004g0017 a0003c0003t0004g0285 a0003c0003t0004g0287 others(18): Show |
22 | 119 | 0.1849 | 5 | c.208 others(22): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26272617 | A | ATTTTT | intron_variant | MODIFIER | HG01358.hp2 HG01952.hp1 HG03195.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 a0001c0001t0003g0119 a0001c0001t0003g0126 others(3): Show |
6 | 199 | 0.0302 | 5 | c.179 others(22): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP85_chr1_26229200_26283808 | 26280499 | G | GCCCTC | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02622.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0012a0003c0005t0004 | a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0012g0168 others(2): Show |
5 | 340 | 0.0147 | 5 | c.*32 others(16): Show |
CEP85 | ENSG00000130695.16 | transcript | ENST00000451429.8 | protein_coding | 1692 | chr1 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32899131 | A | ATTTCC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(91): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0001a0002c0025others(4): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(11): Show | a0001c0002t0001g0029 a0002c0001t0001g0329 a0002c0001t0002g0005 others(88): Show |
94 | 177 | 0.5311 | 5 | c.187 others(22): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 16/18 | chr19 | TogoVar | |||||||
CEP89_chr19_32870925_32976958 | 32900246 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00738.hp2 others(24): Show |
a0003a0004 | a0003c0010a0004c0005 | a0003c0010t0002a0003c0010t0032a0004c0005t0005others(4): Show | a0003c0010t0002g0106 a0003c0010t0032g0307 a0004c0005t0005g0099 others(24): Show |
27 | 184 | 0.1467 | 5 | c.173 others(22): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 15/18 | chr19 | TogoVar | |||||||
CEP97_chr3_101719614_101775562 | 101730228 | G | GTTGTT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00741.hp1 others(35): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0057 others(33): Show |
38 | 344 | 0.1105 | 5 | c.447 others(22): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP97_chr3_101719614_101775562 | 101730231 | T | TTTTTG | intron_variant | MODIFIER | HG00621.hp2 HG00733.hp1 HG00735.hp1 others(16): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0032others(4): Show | a0001c0001t0001g0024 a0001c0001t0001g0282 a0001c0001t0001g0284 others(16): Show |
19 | 103 | 0.1845 | 5 | c.447 others(22): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEP97_chr3_101719614_101775562 | 101760022 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00642.hp1 others(91): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0015a0003c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(8): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 others(85): Show |
94 | 100 | 0.9400 | 5 | c.181 others(24): Show |
CEP97 | ENSG00000182504.12 | transcript | ENST00000341893.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CEPT1_chr1_111135223_111190104 | 111154187 | G | GTATTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 others(25): Show |
40 | 75 | 0.5333 | 5 | c.340 others(22): Show |
CEPT1 | ENSG00000134255.16 | transcript | ENST00000357172.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CERCAM_chr9_128415857_128442347 | 128416841 | C | CTTTGT | upstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01256.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(4): Show |
12 | 346 | 0.0347 | 5 | c.-40 others(16): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 4015 | chr9 | TogoVar | |||||||
CERCAM_chr9_128415857_128442347 | 128418582 | T | TTTTTG | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02809.hp1 HG02970.hp2 others(3): Show |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0009 a0002c0005t0002g0207 |
6 | 393 | 0.0153 | 5 | c.-22 others(16): Show |
CERCAM | ENSG00000167123.20 | transcript | ENST00000372838.9 | protein_coding | 2274 | chr9 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181595222 | T | TTTAAG | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00597.hp1 others(81): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(15): Show | a0001c0001t0001g0149 a0001c0001t0001g0156 a0001c0001t0001g0157 others(80): Show |
84 | 296 | 0.2838 | 5 | c.481 others(22): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181599535 | T | TCAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01884.hp2 others(18): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0021a0001c0002t0003others(5): Show | a0001c0001t0001g0262 a0001c0001t0021g0175 a0001c0002t0003g0139 others(17): Show |
21 | 233 | 0.0901 | 5 | c.481 others(22): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
CERKL_chr2_181531672_181662105 | 181616206 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00673.hp2 others(33): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0187 a0001c0001t0001g0210 a0001c0001t0001g0212 others(33): Show |
36 | 98 | 0.3673 | 5 | c.239 others(24): Show |
CERKL | ENSG00000188452.15 | transcript | ENST00000410087.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46719198 | C | CTTTTA | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp1 HG00609.hp2 others(32): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0005others(9): Show | a0001c0001t0012a0001c0001t0029a0001c0001t0053others(21): Show | a0001c0001t0012g0290 a0001c0001t0012g0291 a0001c0001t0012g0292 others(32): Show |
35 | 337 | 0.1039 | 5 | c.379 others(20): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 3/12 | chr22 | TogoVar | |||||||
CERK_chr22_46679410_46743252 | 46723704 | T | TTCTTC | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG02083.hp2 |
a0001 | a0001c0003a0001c0035 | a0001c0003t0002a0001c0003t0004a0001c0035t0008 | a0001c0003t0002g0169 a0001c0003t0004g0243 a0001c0035t0008g0321 |
3 | 338 | 0.0089 | 5 | c.143 others(22): Show |
CERK | ENSG00000100422.14 | transcript | ENST00000216264.13 | protein_coding | 1/12 | chr22 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100413510 | G | GACTAT | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp1 HG00733.hp1 others(54): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0033 others(54): Show |
57 | 127 | 0.4488 | 5 | c.100 others(26): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100414819 | T | TAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(104): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0018others(9): Show | a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0029 others(104): Show |
107 | 289 | 0.3702 | 5 | c.100 others(26): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100414823 | A | AAAAAC | intron_variant | MODIFIER | HG00408.hp1 NA18942.hp2 NA18952.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 others(6): Show |
9 | 360 | 0.0250 | 5 | c.100 others(26): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100454387 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00738.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0117 a0001c0001t0001g0123 a0001c0001t0001g0125 others(17): Show |
20 | 22 | 0.9091 | 5 | c.999 others(22): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 11/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100506470 | C | CCCCCG | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00735.hp2 others(23): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0021others(9): Show | a0001c0001t0001g0033 a0001c0001t0008g0113 a0001c0001t0008g0308 others(23): Show |
26 | 60 | 0.4333 | 5 | c.-1- others(20): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
CERS3_chr15_100395395_100533950 | 100527888 | T | TTTCTC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(265): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(265): Show |
268 | 360 | 0.7444 | 5 | c.-92 others(20): Show |
CERS3 | ENSG00000154227.14 | transcript | ENST00000679737.1 | protein_coding | 1/11 | chr15 | TogoVar | |||||||
CERS4_chr19_8204370_8267421 | 8221872 | G | GTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01981.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0005others(5): Show | a0001c0001t0001g0115 a0001c0001t0003g0047 a0001c0001t0003g0162 others(9): Show |
12 | 126 | 0.0952 | 5 | c.-2+ others(22): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8249587 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp1 others(70): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0198 a0001c0001t0002g0003 a0001c0001t0002g0130 others(70): Show |
73 | 134 | 0.5448 | 5 | c.-1- others(20): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8254322 | C | CAAAAA | intron_variant | MODIFIER | HG00733.hp2 HG02074.hp1 HG02109.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0139 others(11): Show |
14 | 111 | 0.1261 | 5 | c.174 others(20): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS4_chr19_8204370_8267421 | 8260950 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0006a0001c0002t0005a0001c0002t0006others(2): Show | a0001c0001t0006g0215 a0001c0001t0006g0222 a0001c0001t0006g0364 others(21): Show |
24 | 303 | 0.0792 | 5 | c.849 others(20): Show |
CERS4 | ENSG00000090661.12 | transcript | ENST00000251363.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CERS5_chr12_50124289_50172369 | 50134071 | G | GAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0074 a0001c0001t0001g0087 others(40): Show |
43 | 87 | 0.4943 | 5 | c.102 others(22): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 9/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50140284 | A | ATTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00738.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0104 a0001c0001t0001g0106 others(23): Show |
26 | 76 | 0.3421 | 5 | c.493 others(22): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50153269 | A | ATTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00544.hp1 others(26): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0012 | a0002c0003t0003g0023 a0002c0003t0003g0024 a0002c0003t0003g0025 others(26): Show |
29 | 38 | 0.7632 | 5 | c.198 others(22): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS5_chr12_50124289_50172369 | 50155736 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01255.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0004t0001a0002c0003t0003 | a0001c0001t0001g0081 a0001c0004t0001g0006 a0001c0004t0001g0007 others(6): Show |
9 | 91 | 0.0989 | 5 | c.197 others(24): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168517522 | T | TAAATA | intron_variant | MODIFIER | HG03041.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0038 | a0001c0001t0006g0116 a0001c0001t0038g0115 |
2 | 174 | 0.0115 | 5 | c.171 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168593526 | G | GTGTTT | intron_variant | MODIFIER | HG02145.hp1 HG02165.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0062 a0001c0001t0003g0006 a0001c0001t0003g0007 others(4): Show |
7 | 114 | 0.0614 | 5 | c.407 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168600211 | T | TCTCTC | intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0004g0014 a0001c0001t0007g0013 a0001c0001t0008g0040 others(5): Show |
8 | 171 | 0.0468 | 5 | c.408 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168623702 | C | CAGTTT | intron_variant | MODIFIER | HG02071.hp2 NA18945.hp1 NA18949.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0035others(1): Show | a0001c0001t0001g0147 a0001c0001t0001g0154 a0001c0001t0002g0001 others(7): Show |
10 | 174 | 0.0575 | 5 | c.408 others(22): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168645116 | A | ATATAT | intron_variant | MODIFIER | HG01496.hp1 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0067 a0001c0001t0006g0129 |
2 | 101 | 0.0198 | 5 | c.465 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168665947 | G | GACTGT | intron_variant | MODIFIER | HG02071.hp2 HG02523.hp2 HG02602.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0035others(1): Show | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0002g0036 others(4): Show |
7 | 169 | 0.0414 | 5 | c.466 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168700108 | G | GGTCTT | intron_variant | MODIFIER | HG00738.hp1 HG02071.hp1 HG02132.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0143 a0001c0001t0001g0147 a0001c0001t0002g0057 others(8): Show |
11 | 174 | 0.0632 | 5 | c.609 others(22): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 6/9 | chr2 | TogoVar |