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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C4orf45_chr4_158888134_159040229 | 159024172 | ATAAATGA others(10): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0251 | 1 | 262 | 0.0038 | -17 | c.64+ others(34): Show |
C4orf45 | ENSG00000164123.7 | transcript | ENST00000434826.3 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
C4orf47_chr4_185421254_185454826 | 185426879 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0269 | 1 | 3 | 0.3333 | -17 | c.-79 others(32): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185443921 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01433.hp2 HG01934.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0229 a0001c0001t0003g0199 a0001c0001t0004g0005 others(11): Show |
21 | 26 | 0.8077 | -17 | c.715 others(34): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C5AR2_chr19_47327175_47352329 | 47336419 | TCTTTCTT others(10): Show |
T | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 404 | 0.0025 | -17 | c.-16 others(34): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
C5orf34_chr5_43481709_43520148 | 43512760 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01952.hp2 HG02738.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0002t0002g0025 |
4 | 5 | 0.8000 | -17 | c.-37 others(34): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
C6orf89_chr6_36880952_36933964 | 36882717 | TTTTTTTT others(10): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp2 HG02071.hp1 NA18747.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0018a0001c0002t0030 | a0001c0002t0018g0023 a0001c0002t0030g0171 |
4 | 394 | 0.0102 | -17 | c.-34 others(28): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 3234 | chr6 | TogoVar | |||||||
C6orf89_chr6_36880952_36933964 | 36901321 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0047 | a0001c0002t0047g0081 | 1 | 220 | 0.0045 | -17 | c.190 others(32): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40968557 | TTATATAT others(10): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00621.hp2 others(38): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(6): Show | a0001c0001t0001g0222 a0001c0001t0001g0241 a0001c0001t0001g0242 others(37): Show |
41 | 364 | 0.1126 | -17 | c.188 others(36): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40968586 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0261 | 1 | 296 | 0.0034 | -17 | c.188 others(36): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1002547 | GGGTGAGT others(10): Show |
G | intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 324 | 0.0031 | -17 | c.324 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1014788 | GCCGGCCA others(10): Show |
G | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 324 | 0.0031 | -17 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016842 | CCAGCACA others(10): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00733.hp1 others(36): Show |
a0001a0003a0006 | a0001c0001a0003c0009a0006c0003 | a0001c0001t0006a0001c0001t0009a0001c0001t0011others(3): Show | a0001c0001t0006g0030 a0001c0001t0006g0059 a0001c0001t0006g0081 others(36): Show |
39 | 321 | 0.1215 | -17 | c.130 others(34): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1023623 | AAACACAC others(10): Show |
A | intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0082 | 1 | 319 | 0.0031 | -17 | c.130 others(36): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1059866 | TGTAGTGG others(10): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01074.hp1 others(40): Show |
a0001a0007a0008 | a0001c0001a0007c0004a0008c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0002g0219 others(40): Show |
43 | 258 | 0.1667 | -17 | c.130 others(36): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf57_chr7_48030543_48066297 | 48051798 | CCTTCCTT others(10): Show |
C | intron_variant | MODIFIER | HG01071.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0013 | 1 | 402 | 0.0025 | -17 | c.606 others(32): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | chr7 | TogoVar | |||||||
C8B_chr1_56924207_56971015 | 56957940 | TCTGACAG others(10): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 400 | 0.0025 | -17 | c.250 others(34): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
C8orf33_chr8_145047467_145061030 | 145052301 | CCGCCCGC others(10): Show |
C | upstream_gene_variant | MODIFIER | NA19007.hp1 NA19059.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025 | a0001c0001t0002g0001 a0001c0001t0025g0001 |
2 | 398 | 0.0050 | -17 | c.-19 others(26): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 165 | chr8 | TogoVar | |||||||
C8orf34_chr8_68325955_68824023 | 68588390 | AGGAATAT others(10): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02886.hp1 HG03195.hp2 |
a0001a0004 | a0001c0001a0001c0005a0004c0018 | a0001c0001t0004a0001c0005t0001a0004c0018t0007 | a0001c0001t0004g0110 a0001c0005t0001g0076 a0004c0018t0007g0126 |
3 | 126 | 0.0238 | -17 | c.110 others(38): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | chr8 | TogoVar | |||||||
C8orf74_chr8_10667628_10705590 | 10696426 | CTTTTCTT others(10): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0051 | 1 | 427 | 0.0023 | -17 | c.242 others(34): Show |
C8orf74 | ENSG00000171060.11 | transcript | ENST00000304519.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C9orf152_chr9_110194561_110213159 | 110198893 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(69): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(5): Show | a0001c0001t0001g0041 a0001c0001t0008g0009 a0001c0001t0008g0017 others(21): Show |
72 | 121 | 0.5950 | -17 | c.*20 others(28): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 667 | chr9 | TogoVar | |||||||
C9orf43_chr9_113405747_113434690 | 113408496 | TGCAGATC others(10): Show |
T | upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 308 | 0.0032 | -17 | c.-25 others(28): Show |
C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 2250 | chr9 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 52025647 | ATGATAAA others(10): Show |
A | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 154 | 0.0065 | -17 | c.136 others(36): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2/8 | chr17 | TogoVar | |||||||
CA11_chr19_48632946_48651187 | 48648992 | CAAAAAAA others(10): Show |
C | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 310 | 0.0032 | -17 | c.-33 others(28): Show |
CA11 | ENSG00000063180.9 | transcript | ENST00000084798.9 | protein_coding | 2806 | chr19 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8947749 | AGTGCCCT others(10): Show |
A | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0169 | 1 | 450 | 0.0022 | -17 | c.80- others(32): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8973760 | CTTTCTTT others(10): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0022 | 1 | 450 | 0.0022 | -17 | c.845 others(32): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8978636 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG02257.hp1 HG02451.hp2 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0005others(4): Show | a0001c0001t0001a0001c0002t0001a0002c0005t0001others(5): Show | a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0002t0001g0001 others(11): Show |
15 | 161 | 0.0932 | -17 | c.*39 others(28): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 3545 | chr1 | TogoVar | |||||||
CA9_chr9_35668928_35686159 | 35669282 | CAGCCTCA others(10): Show |
C | upstream_gene_variant | MODIFIER | NA19072.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0130 | 1 | 444 | 0.0023 | -17 | c.-46 others(28): Show |
CA9 | ENSG00000107159.14 | transcript | ENST00000378357.9 | protein_coding | 4645 | chr9 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49329543 | AAATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01934.hp2 HG02698.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0193 a0001c0002t0001g0267 |
2 | 313 | 0.0064 | -17 | c.834 others(34): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49329545 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01099.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0160 a0001c0001t0001g0164 a0001c0001t0001g0189 others(12): Show |
15 | 199 | 0.0754 | -17 | c.834 others(34): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230712463 | TTGTCCCC others(10): Show |
T | upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0134 | 1 | 340 | 0.0029 | -17 | c.-81 others(26): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 378 | chr2 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230748826 | AAAAAAAT others(10): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0029 | 1 | 325 | 0.0031 | -17 | c.-43 others(36): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230748828 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG03540.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0064 | a0001c0001t0020g0205 a0001c0001t0064g0183 |
2 | 333 | 0.0060 | -17 | c.-43 others(36): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23191906 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG02895.hp1 NA19090.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0002 | a0001c0001t0005g0225 a0001c0003t0002g0181 |
2 | 13 | 0.1538 | -17 | c.918 others(34): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64640402 | GTGGTGGC others(10): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG03195.hp2 HG06807.hp2 |
a0001a0004 | a0001c0004a0004c0010 | a0001c0004t0009a0004c0010t0001 | a0001c0004t0009g0115 a0001c0004t0009g0121 a0004c0010t0001g0090 |
3 | 164 | 0.0183 | -17 | c.100 others(36): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 7/26 | chr1 | TogoVar | |||||||
CACHD1_chr1_64465129_64698053 | 64643036 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01258.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0025 a0001c0001t0001g0078 |
3 | 5 | 0.6000 | -17 | c.115 others(36): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13346645 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0117 | a0002c0117t0001 | a0002c0117t0001g0072 | 1 | 215 | 0.0047 | -17 | c.979 others(36): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13346649 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG03130.hp2 HG03195.hp2 |
a0001a0018a0032 | a0001c0006a0018c0017a0032c0113 | a0001c0006t0013a0018c0017t0004a0032c0113t0003 | a0001c0006t0013g0136 a0018c0017t0004g0211 a0032c0113t0003g0096 |
3 | 213 | 0.0141 | -17 | c.979 others(36): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13346650 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG03225.hp2 HG03471.hp2 |
a0001a0010a0016 | a0001c0016a0010c0107a0016c0040 | a0001c0016t0001a0010c0107t0007a0016c0040t0001 | a0001c0016t0001g0076 a0010c0107t0007g0004 a0016c0040t0001g0008 |
3 | 210 | 0.0143 | -17 | c.979 others(36): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13346652 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01934.hp1 |
a0001a0003 | a0001c0006a0003c0015 | a0001c0006t0001a0003c0015t0001 | a0001c0006t0001g0110 a0003c0015t0001g0018 |
2 | 205 | 0.0098 | -17 | c.979 others(36): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13346656 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0199 | 1 | 210 | 0.0048 | -17 | c.979 others(36): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13406463 | AATTATAT others(10): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0038 | a0001c0038t0002 | a0001c0038t0002g0206 | 1 | 205 | 0.0049 | -17 | c.540 others(36): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13466017 | GAAGGAGA others(10): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG02976.hp2 others(2): Show |
a0001a0006a0031 | a0001c0005a0001c0006a0001c0037others(2): Show | a0001c0005t0001a0001c0006t0013a0001c0037t0001others(2): Show | a0001c0005t0001g0135 a0001c0006t0013g0136 a0001c0037t0001g0028 others(2): Show |
5 | 216 | 0.0231 | -17 | c.294 others(36): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497488 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0010 | a0010c0083 | a0010c0083t0004 | a0010c0083t0004g0159 | 1 | 211 | 0.0047 | -17 | c.293 others(34): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497516 | AAAAAAAT others(10): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0011 | a0011c0103 | a0011c0103t0001 | a0011c0103t0001g0200 | 1 | 205 | 0.0049 | -17 | c.293 others(34): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497520 | AAATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00423.hp1 NA18979.hp1 NA19079.hp2 |
a0006a0008a0022 | a0006c0009a0008c0029a0022c0109 | a0006c0009t0017a0008c0029t0002a0022c0109t0001 | a0006c0009t0017g0163 a0008c0029t0002g0197 a0022c0109t0001g0198 |
3 | 195 | 0.0154 | -17 | c.293 others(34): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13497522 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp1 |
a0003a0032 | a0003c0013a0032c0113 | a0003c0013t0001a0032c0113t0003 | a0003c0013t0001g0150 a0032c0113t0003g0096 |
2 | 187 | 0.0107 | -17 | c.293 others(34): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137949499 | ATGTGTGT others(10): Show |
A | intron_variant | MODIFIER | HG02486.hp2 NA20752.hp2 |
a0002 | a0002c0024 | a0002c0024t0011 | a0002c0024t0011g0160 a0002c0024t0011g0162 |
2 | 246 | 0.0081 | -17 | c.967 others(34): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 6/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138002775 | CTTTTCTT others(10): Show |
C | intron_variant | MODIFIER | NA19056.hp2 NA19060.hp2 NA19079.hp2 |
a0001 | a0001c0019 | a0001c0019t0017a0001c0019t0025 | a0001c0019t0017g0124 a0001c0019t0017g0125 a0001c0019t0025g0126 |
3 | 246 | 0.0122 | -17 | c.197 others(36): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138088959 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG03492.hp1 NA18947.hp1 others(5): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0011others(1): Show | a0001c0002t0021a0002c0001t0002a0002c0011t0002others(1): Show | a0001c0002t0021g0075 a0002c0001t0002g0186 a0002c0011t0002g0168 others(5): Show |
8 | 13 | 0.6154 | -17 | c.509 others(36): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138099618 | CGTGCCTG others(10): Show |
C | intron_variant | MODIFIER | HG02683.hp1 HG03688.hp1 HG03834.hp2 others(1): Show |
a0001 | a0001c0013a0001c0018 | a0001c0013t0009a0001c0013t0027a0001c0018t0009 | a0001c0013t0009g0099 a0001c0013t0009g0196 a0001c0013t0027g0240 others(1): Show |
4 | 246 | 0.0163 | -17 | c.522 others(36): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 37/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |