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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C3orf70_chr3_185071838_185158060 | 185134125 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0024 | 1 | 371 | 0.0027 | 46 | c.196 others(65): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
C4BPB_chr1_207083860_207104993 | 207085621 | T | TATATATA others(39): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 381 | 0.0026 | 46 | c.-33 others(57): Show |
C4BPB | ENSG00000123843.13 | transcript | ENST00000367078.8 | protein_coding | 3238 | chr1 | TogoVar | |||||||
C7orf31_chr7_25129692_25185354 | 25160257 | T | TTCCATTA others(39): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01071.hp1 others(79): Show |
a0002a0005a0011others(3): Show | a0002c0002a0005c0010a0011c0013others(3): Show | a0002c0002t0001a0002c0002t0010a0002c0002t0012others(7): Show | a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0014 others(61): Show |
82 | 414 | 0.1981 | 46 | c.383 others(61): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 4/9 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1060001 | T | TTAGTGGG others(39): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 |
2 | 283 | 0.0071 | 46 | c.130 others(65): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1116528 | T | TTCTAGGA others(39): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0158 | 1 | 229 | 0.0044 | 46 | c.129 others(65): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1127627 | T | TGTCACCC others(39): Show |
intron_variant | MODIFIER | HG01069.hp2 HG02735.hp1 NA18747.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0038 others(3): Show |
6 | 315 | 0.0190 | 46 | c.-1- others(59): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1127839 | A | AATCTCGG others(39): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0016 | 1 | 265 | 0.0038 | 46 | c.-1- others(59): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1128637 | T | TCACCGTC others(39): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0101 | 1 | 220 | 0.0045 | 46 | c.-1- others(61): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1129061 | C | CCACCGTC others(39): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 312 | 0.0032 | 46 | c.-1- others(61): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1129145 | A | AGCTCATC others(39): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 285 | 0.0035 | 46 | c.-1- others(61): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1129367 | G | ACCATCTC others(39): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0297 | 1 | 281 | 0.0036 | 46 | c.-1- others(61): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf57_chr7_48030543_48066297 | 48051809 | T | TCCTTCCT others(39): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0292 | 1 | 373 | 0.0027 | 46 | c.606 others(61): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | chr7 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51717791 | G | GTATATGT others(39): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02273.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 a0001c0002t0001g0098 |
2 | 130 | 0.0154 | 46 | c.465 others(65): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51839503 | A | AAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02109.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0035 a0001c0001t0001g0110 a0001c0001t0001g0154 others(3): Show |
6 | 154 | 0.0390 | 46 | c.279 others(65): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51942538 | T | TTATATAT others(39): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 41 | 0.0244 | 46 | c.137 others(65): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51942538 | T | TTATATAT others(39): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02818.hp1 HG04115.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0018 a0001c0001t0002g0028 a0001c0001t0002g0041 others(1): Show |
4 | 44 | 0.0909 | 46 | c.137 others(65): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8955611 | A | ACCTTCCA others(39): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG01257.hp1 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0135 a0001c0001t0001g0367 a0001c0002t0001g0011 others(29): Show |
34 | 405 | 0.0840 | 46 | c.260 others(63): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CAAP1_chr9_26835685_26897802 | 26872553 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0036 | 1 | 318 | 0.0031 | 46 | c.666 others(65): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 4/5 | chr9 | TogoVar | |||||||
CABCOCO1_chr10_61657929_61771766 | 61680652 | T | TTATGTTA others(39): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0213 | 1 | 264 | 0.0038 | 46 | c.165 others(61): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACFD1_chr9_133454978_133475848 | 133460459 | A | AGGGCGGG others(39): Show |
intron_variant | MODIFIER | HG01952.hp2 HG01975.hp2 HG01981.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0009 a0001c0001t0010g0009 |
6 | 339 | 0.0177 | 46 | c.121 others(61): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13413881 | G | GAAAAGAA others(39): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0069 | 1 | 199 | 0.0050 | 46 | c.539 others(65): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2462244 | A | ACCTCGGC others(39): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0098 | 1 | 104 | 0.0096 | 46 | c.757 others(63): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 5/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181795767 | A | AATATATA others(39): Show |
intron_variant | MODIFIER | HG03195.hp1 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0048 | a0001c0001t0005g0089 a0001c0001t0048g0054 |
2 | 126 | 0.0159 | 46 | c.620 others(63): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 46/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185655 | T | TGTGTAGG others(39): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0013 | a0013c0026 | a0013c0026t0008 | a0013c0026t0008g0278 | 1 | 333 | 0.0030 | 46 | c.300 others(63): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185756 | G | GGCGTGCG others(39): Show |
intron_variant | MODIFIER | HG02965.hp1 HG02965.hp2 HG03195.hp1 others(3): Show |
a0002a0003a0078others(1): Show | a0002c0011a0002c0025a0003c0133others(2): Show | a0002c0011t0001a0002c0011t0005a0002c0025t0001others(3): Show | a0002c0011t0001g0224 a0002c0011t0005g0274 a0002c0025t0001g0225 others(3): Show |
6 | 310 | 0.0194 | 46 | c.300 others(63): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185756 | G | GGCGTGCG others(39): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 305 | 0.0033 | 46 | c.300 others(63): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185764 | T | TGCGTAGG others(39): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0005 | a0005c0056 | a0005c0056t0035 | a0005c0056t0035g0223 | 1 | 334 | 0.0030 | 46 | c.300 others(63): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1I_chr22_39565753_39694735 | 39601953 | C | CCCTCCTT others(39): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18906.hp1 NA19043.hp1 others(1): Show |
a0003a0024 | a0003c0005a0003c0017a0024c0042 | a0003c0005t0053a0003c0017t0005a0024c0042t0005 | a0003c0005t0053g0142 a0003c0017t0005g0088 a0003c0017t0005g0089 others(1): Show |
4 | 231 | 0.0173 | 46 | c.482 others(63): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | chr22 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54478660 | G | GTGTATAT others(39): Show |
intron_variant | MODIFIER | HG01169.hp1 HG02300.hp1 HG02572.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0080 others(6): Show |
9 | 45 | 0.2000 | 46 | c.382 others(65): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54809311 | C | CTTTTTTT others(39): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 45 | 0.0222 | 46 | c.138 others(65): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 13/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNB2_chr10_18335709_18548557 | 18443004 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 270 | 0.0037 | 46 | c.171 others(65): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNG2_chr22_36555857_36708752 | 36703760 | G | GCTCGCTC others(39): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0110 | 1 | 139 | 0.0072 | 46 | c.-11 others(57): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 9 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36703760 | G | GCTCGCTC others(39): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 HG03834.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0070 | a0001c0001t0005g0126 a0001c0001t0009g0121 a0001c0001t0070g0137 |
3 | 141 | 0.0213 | 46 | c.-11 others(57): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 9 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36703760 | G | GCTCGCTC others(39): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0169 | 1 | 139 | 0.0072 | 46 | c.-11 others(57): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 9 | chr22 | TogoVar | |||||||
CACNG2_chr22_36555857_36708752 | 36706263 | T | TCTTCTTC others(39): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0190 | 1 | 211 | 0.0047 | 46 | c.-36 others(57): Show |
CACNG2 | ENSG00000166862.7 | transcript | ENST00000300105.7 | protein_coding | 2512 | chr22 | TogoVar | |||||||
CACNG6_chr19_53986637_54017666 | 54011205 | A | AAAAAAAA others(39): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0056 | 1 | 173 | 0.0058 | 46 | c.545 others(61): 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(39): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0057 | 1 | 173 | 0.0058 | 46 | c.545 others(61): 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(39): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0065 | 1 | 173 | 0.0058 | 46 | c.545 others(61): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CACTIN_chr19_3605645_3631790 | 3628713 | G | GAGTTCAG others(39): Show |
upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0098 | 1 | 406 | 0.0025 | 46 | c.-19 others(57): Show |
CACTIN | ENSG00000105298.14 | transcript | ENST00000429344.7 | protein_coding | 1924 | chr19 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 85431860 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02683.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0016 a0001c0001t0002g0136 a0001c0001t0004g0075 others(6): Show |
9 | 44 | 0.2045 | 46 | c.62- others(65): 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(39): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01515.hp2 HG01516.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0084 a0001c0001t0002g0023 a0001c0001t0002g0044 others(7): Show |
10 | 45 | 0.2222 | 46 | c.62- others(65): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85431870 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0143 | 1 | 144 | 0.0069 | 46 | c.62- others(65): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85568463 | C | CTTTCTTT others(39): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0021 | 1 | 140 | 0.0071 | 46 | c.62- others(65): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADPS_chr3_62393348_62880416 | 62599904 | T | TTATATAT others(39): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01192.hp2 HG01261.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0081 others(5): Show |
8 | 157 | 0.0510 | 46 | c.132 others(65): Show |
CADPS | ENSG00000163618.18 | transcript | ENST00000383710.9 | protein_coding | 6/29 | chr3 | TogoVar | |||||||
CALCOCO2_chr17_48826035_48870245 | 48854396 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG03688.hp1 NA19068.hp2 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0145 a0003c0002t0001g0174 |
2 | 34 | 0.0588 | 46 | c.912 others(63): 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(39): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18969.hp2 NA19087.hp2 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0143 a0003c0002t0001g0179 a0003c0002t0001g0184 |
3 | 35 | 0.0857 | 46 | c.912 others(63): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CALCR_chr7_93419486_93579724 | 93460581 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 279 | 0.0036 | 46 | c.648 others(61): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
CALCR_chr7_93419486_93579724 | 93554769 | G | GTATATAT others(39): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01515.hp2 HG03139.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0140 a0001c0001t0003g0148 a0001c0001t0005g0119 others(2): Show |
5 | 59 | 0.0847 | 46 | c.-27 others(65): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
CALM2_chr2_47155084_47181511 | 47167814 | C | CTTTCTTT others(39): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 62 | 0.0161 | 46 | c.34+ others(61): Show |
CALM2 | ENSG00000143933.20 | transcript | ENST00000272298.12 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
CALN1_chr7_71774491_72417338 | 72209193 | C | CTTCCCTC others(39): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0117 | 1 | 130 | 0.0077 | 46 | c.244 others(65): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar |