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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C4orf36_chr4_86871205_86897422 | 86890207 | G | GAGGGAGG others(37): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0005 | a0005c0005 | a0005c0005t0005 | a0005c0005t0005g0176 | 1 | 239 | 0.0042 | 44 | c.65+ others(59): Show |
C4orf36 | ENSG00000163633.12 | transcript | ENST00000295898.8 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 55 | 0.0182 | 44 | c.715 others(61): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42099011 | G | GAAAGGAG others(37): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0335 | 1 | 362 | 0.0028 | 44 | c.*47 others(55): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 2107 | chr6 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1060001 | T | TTAGTGGG others(37): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 282 | 0.0035 | 44 | c.130 others(63): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1128971 | C | CGTCACCC others(37): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0297 | 1 | 293 | 0.0034 | 44 | c.-1- others(59): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1128971 | C | CGTCACCC others(37): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 293 | 0.0034 | 44 | c.-1- others(59): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1136437 | T | TAAATATA others(37): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 |
a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0202 a0002c0002t0018g0203 |
2 | 324 | 0.0062 | 44 | c.-2+ others(57): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C8orf34_chr8_68325955_68824023 | 68774944 | T | TAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0076 | 1 | 48 | 0.0208 | 44 | c.140 others(63): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf82_chr8_144520733_144534111 | 144531543 | A | AACACTAG others(37): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 1 | 395 | 0.0025 | 44 | c.-26 others(55): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2433 | chr8 | TogoVar | |||||||
C9_chr5_39279140_39369495 | 39333608 | C | CTCTCCGT others(37): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01123.hp1 HG01261.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0051 others(14): Show |
17 | 259 | 0.0656 | 44 | c.477 others(61): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
C9orf57_chr9_72046376_72065613 | 72055374 | C | CTCCCTCC others(37): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 208 | 0.0048 | 44 | c.280 others(59): Show |
C9orf57 | ENSG00000204669.11 | transcript | ENST00000651200.2 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8977700 | A | AAAAGAAA others(37): Show |
downstream_gene_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0251 | 1 | 107 | 0.0093 | 44 | c.*29 others(55): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2609 | chr1 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49405719 | G | GAGGAAGG others(37): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02683.hp2 HG03927.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0238 a0001c0002t0003g0005 a0001c0002t0003g0033 |
3 | 213 | 0.0141 | 44 | c.-31 others(63): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
CABCOCO1_chr10_61657929_61771766 | 61680652 | T | TTATGTTA others(37): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00438.hp2 others(73): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(70): Show |
76 | 339 | 0.2242 | 44 | c.165 others(59): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABLES2_chr20_62383634_62412285 | 62407350 | C | CACACAAA others(37): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0160 | 1 | 398 | 0.0025 | 44 | c.-75 others(51): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 66 | chr20 | TogoVar | |||||||
CACFD1_chr9_133454978_133475848 | 133460459 | A | AGGGCGGG others(37): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017 | 3 | 336 | 0.0089 | 44 | c.121 others(59): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACFD1_chr9_133454978_133475848 | 133460463 | C | CGGGGGGG others(37): Show |
intron_variant | MODIFIER | HG00642.hp1 NA19001.hp2 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0024 a0001c0001t0002g0042 a0001c0001t0009g0024 |
3 | 414 | 0.0072 | 44 | c.121 others(59): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13255737 | T | TTCCCTCC others(37): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02809.hp1 others(4): Show |
a0001a0003a0028 | a0001c0005a0001c0006a0001c0126others(3): Show | a0001c0005t0001a0001c0006t0001a0001c0126t0007others(4): Show | a0001c0005t0001g0135 a0001c0006t0001g0151 a0001c0126t0007g0006 others(4): Show |
7 | 212 | 0.0330 | 44 | c.459 others(61): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 28/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13510035 | A | AAGGAAGG others(37): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0136 | 1 | 150 | 0.0067 | 44 | c.-38 others(55): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3557 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138113955 | G | GAGGTGCC others(37): Show |
intron_variant | MODIFIER | HG04199.hp2 NA18947.hp1 NA18951.hp1 others(5): Show |
a0001a0002 | a0001c0017a0002c0001a0002c0011 | a0001c0017t0002a0002c0001t0002a0002c0001t0003others(1): Show | a0001c0017t0002g0189 a0002c0001t0002g0186 a0002c0001t0003g0054 others(5): Show |
8 | 246 | 0.0325 | 44 | c.553 others(61): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 40/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181795767 | A | AATATATA others(37): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG03831.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0008a0001c0004t0002a0001c0006t0002others(2): Show | a0001c0001t0008g0179 a0001c0004t0002g0101 a0001c0004t0002g0199 others(3): Show |
6 | 130 | 0.0462 | 44 | c.620 others(61): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1192875 | G | GCTGGTTA others(37): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0022 | a0022c0064 | a0022c0064t0030 | a0022c0064t0030g0276 | 1 | 336 | 0.0030 | 44 | c.300 others(61): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54478660 | G | GTGTATAT others(37): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG01123.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0012a0001c0002t0001others(12): Show | a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0012g0063 others(18): Show |
21 | 57 | 0.3684 | 44 | c.382 others(63): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54822832 | T | TTTCTTTC others(37): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 68 | 0.0147 | 44 | c.139 others(63): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54011205 | A | AAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG00408.hp2 NA18948.hp1 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009 | a0001c0001t0006g0053 a0001c0001t0006g0068 a0001c0001t0009g0073 |
3 | 175 | 0.0171 | 44 | c.545 others(59): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54011205 | A | AAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG00738.hp2 NA19085.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0064 a0001c0001t0006g0070 |
2 | 174 | 0.0115 | 44 | c.545 others(59): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACNG6_chr19_53986637_54017666 | 54011205 | A | AAAAAAAA others(37): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0077 | 1 | 173 | 0.0058 | 44 | c.545 others(59): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85431860 | C | CATATATA others(37): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01243.hp1 HG02258.hp1 others(10): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0115 a0001c0001t0002g0137 a0001c0001t0002g0144 others(10): Show |
13 | 48 | 0.2708 | 44 | c.62- others(63): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85431860 | C | CATATGTA others(37): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG01175.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0065 a0001c0001t0003g0062 a0001c0001t0007g0082 others(5): Show |
8 | 43 | 0.1860 | 44 | c.62- others(63): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85568469 | C | CTTTCTTT others(37): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 125 | 0.0080 | 44 | c.62- others(63): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85628580 | C | CACATATA others(37): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02886.hp2 NA20300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0052a0001c0002t0048 | a0001c0001t0002g0144 a0001c0001t0052g0002 a0001c0002t0048g0096 |
3 | 22 | 0.1364 | 44 | c.62- others(61): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122705957 | T | TATTATAT others(37): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01257.hp2 NA18953.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0005a0001c0004t0002 | a0001c0002t0001g0017 a0001c0002t0001g0054 a0001c0002t0005g0036 others(2): Show |
5 | 111 | 0.0450 | 44 | c.453 others(63): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122705957 | T | TATTATAT others(37): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 107 | 0.0093 | 44 | c.453 others(63): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 2/29 | chr7 | TogoVar | |||||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | NA18982.hp1 NA18982.hp2 NA20905.hp2 |
a0003 | a0003c0002 | a0003c0002t0001a0003c0002t0004 | a0003c0002t0001g0230 a0003c0002t0001g0235 a0003c0002t0004g0223 |
3 | 35 | 0.0857 | 44 | c.912 others(61): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0189 | 1 | 33 | 0.0303 | 44 | c.912 others(61): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCR_chr7_93419486_93579724 | 93554769 | G | GTATATAT others(37): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 55 | 0.0182 | 44 | c.-27 others(63): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
CALML3_chr10_5519961_5531771 | 5521239 | A | ATATATAT others(37): Show |
upstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 326 | 0.0031 | 44 | c.-38 others(55): Show |
CALML3 | ENSG00000178363.5 | transcript | ENST00000315238.3 | protein_coding | 3721 | chr10 | TogoVar | |||||||
CALML3_chr10_5519961_5531771 | 5521241 | A | ATATATAT others(37): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0000 | 1 | 366 | 0.0027 | 44 | c.-38 others(55): Show |
CALML3 | ENSG00000178363.5 | transcript | ENST00000315238.3 | protein_coding | 3719 | chr10 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72054437 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0002 | 1 | 141 | 0.0071 | 44 | c.389 others(63): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 4/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72209270 | C | CTCCTTCC others(37): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0018 | 1 | 138 | 0.0072 | 44 | c.244 others(63): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72271575 | A | AAAAAAAA others(37): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0052 | 1 | 14 | 0.0714 | 44 | c.244 others(61): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72271575 | A | AAAAAATA others(37): Show |
intron_variant | MODIFIER | HG01934.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0057 | a0001c0001t0002g0036 a0001c0001t0057g0138 |
2 | 15 | 0.1333 | 44 | c.244 others(61): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72338525 | G | GTGTGTGT others(37): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 76 | 0.0132 | 44 | c.120 others(63): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 2/6 | chr7 | TogoVar | |||||||
CAMK1D_chr10_12344547_12840545 | 12401136 | A | ATTATATA others(37): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02717.hp2 |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0044 | a0001c0002t0010g0007 a0001c0002t0044g0112 |
2 | 213 | 0.0094 | 44 | c.92+ others(61): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12401229 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0109 | 1 | 123 | 0.0081 | 44 | c.92+ others(61): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12623343 | T | TCCTTCCT others(37): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 163 | 0.0061 | 44 | c.225 others(63): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12694084 | T | TATAATAT others(37): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00423.hp2 others(65): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0064 others(65): Show |
68 | 211 | 0.3223 | 44 | c.299 others(63): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12827472 | G | GTCTTTCT others(37): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0063 | a0001c0002t0063g0201 | 1 | 172 | 0.0058 | 44 | c.104 others(63): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44410231 | G | GTATATAT others(37): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0050 a0001c0001t0001g0068 a0001c0001t0001g0073 others(4): Show |
7 | 104 | 0.0673 | 44 | c.376 others(63): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44588281 | G | GCCAGCCG others(37): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 114 | 0.0088 | 44 | c.377 others(65): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |