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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CABYR_chr18_24134062_24166600 | 24143637 | ATCC | A | intron_variant | MODIFIER | HG03130.hp1 HG03195.hp2 HG03516.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0033 a0001c0005t0001g0129 |
3 | 408 | 0.0074 | -3 | c.199 others(18): Show |
CABYR | ENSG00000154040.21 | transcript | ENST00000399496.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64472239 | TTCC | T | intron_variant | MODIFIER | HG00639.hp2 HG02258.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(3): Show |
6 | 166 | 0.0361 | -3 | c.198 others(20): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64472301 | CTCT | C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0003g0155 |
3 | 166 | 0.0181 | -3 | c.198 others(20): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64477584 | GATT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp2 others(41): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0022 a0001c0001t0001g0043 a0001c0001t0001g0045 others(41): Show |
44 | 166 | 0.2651 | -3 | c.198 others(20): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64483681 | CAAA | C | intron_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 others(3): Show |
6 | 166 | 0.0361 | -3 | c.198 others(22): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64523363 | AAAT | A | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG01261.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0076 a0001c0003t0001g0051 a0001c0003t0001g0053 others(1): Show |
4 | 166 | 0.0241 | -3 | c.199 others(22): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64562576 | ATTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp1 others(72): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(72): Show |
75 | 166 | 0.4518 | -3 | c.261 others(22): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64643036 | TAAA | T | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00741.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(6): Show | a0001c0001t0001g0071 a0001c0001t0001g0097 a0001c0001t0001g0164 others(14): Show |
17 | 166 | 0.1024 | -3 | c.115 others(22): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 8/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64653386 | TAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(62): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0021 a0001c0001t0001g0026 a0001c0001t0001g0027 others(62): Show |
65 | 166 | 0.3916 | -3 | c.154 others(20): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64675993 | TTAA | T | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01168.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0060 others(12): Show |
15 | 166 | 0.0904 | -3 | c.297 others(18): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13206676 | GTTA | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(125): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0004a0001c0005others(77): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(99): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 others(125): Show |
128 | 218 | 0.5872 | -3 | c.*63 others(12): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 634 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13206785 | CTGG | C | 3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02647.hp1 others(5): Show |
a0001a0003a0023 | a0001c0031a0001c0071a0001c0072others(4): Show | a0001c0031t0013a0001c0031t0036a0001c0071t0013others(5): Show | a0001c0031t0013g0123 a0001c0031t0036g0215 a0001c0071t0013g0138 others(5): Show |
8 | 218 | 0.0367 | -3 | c.*52 others(12): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 525 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13206944 | GTTT | G | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02055.hp1 others(14): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0005a0001c0005t0005a0001c0006t0005others(13): Show | a0001c0001t0005g0168 a0001c0005t0005g0028 a0001c0005t0005g0135 others(14): Show |
17 | 218 | 0.0780 | -3 | c.*36 others(12): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 366 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13207858 | CCTG | C | conservative_inframe_deletion | MODERATE | HG00438.hp1 HG00639.hp1 HG01192.hp2 others(30): Show |
a0003a0010a0016others(4): Show | a0003c0013a0003c0015a0003c0035others(23): Show | a0003c0013t0007a0003c0013t0018a0003c0013t0027others(28): Show | a0003c0013t0007g0041 a0003c0013t0018g0063 a0003c0013t0027g0149 others(30): Show |
33 | 218 | 0.1514 | -3 | c.697 others(12): Show |
p.Gln others(7): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 7230/8647 | 6973/7521 | 2325/2506 | chr19 | TogoVar | |||
CACNA1A_chr19_13201442_13511479 | 13217927 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG01070.hp1 HG01070.hp2 others(32): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0005others(27): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(30): Show | a0001c0001t0001g0050 a0001c0001t0001g0194 a0001c0001t0004g0013 others(32): Show |
35 | 218 | 0.1606 | -3 | c.573 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13224486 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00639.hp2 others(88): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0004a0001c0005others(50): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(65): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 others(88): Show |
91 | 218 | 0.4174 | -3 | c.573 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13226253 | CGGG | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(104): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0004a0001c0005others(73): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(88): Show | a0001c0001t0001g0025 a0001c0001t0001g0115 a0001c0001t0001g0194 others(104): Show |
107 | 218 | 0.4908 | -3 | c.562 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 37/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13227366 | AAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(155): Show |
a0001a0002a0003others(32): Show | a0001c0001a0001c0004a0001c0005others(92): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(121): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 others(155): Show |
158 | 218 | 0.7248 | -3 | c.562 others(18): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 37/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13227903 | CTTT | C | intron_variant | MODIFIER | HG02698.hp1 HG03669.hp1 HG04115.hp2 others(2): Show |
a0002a0009a0011 | a0002c0002a0009c0014a0011c0025 | a0002c0002t0002a0002c0002t0006a0009c0014t0002others(1): Show | a0002c0002t0002g0130 a0002c0002t0006g0142 a0009c0014t0002g0048 others(2): Show |
5 | 218 | 0.0229 | -3 | c.552 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 36/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13234743 | AGAG | A | intron_variant | MODIFIER | NA18973.hp1 NA19079.hp1 |
a0001a0013 | a0001c0006a0013c0089 | a0001c0006t0001a0013c0089t0001 | a0001c0006t0001g0032 a0013c0089t0001g0143 |
2 | 218 | 0.0092 | -3 | c.524 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 34/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13247644 | GAGC | G | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00639.hp2 others(54): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0004a0001c0005others(34): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(41): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 others(54): Show |
57 | 218 | 0.2615 | -3 | c.486 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 30/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13248530 | CAGA | C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02486.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0004a0001c0004t0001a0001c0005t0005others(10): Show | a0001c0001t0004g0155 a0001c0004t0001g0078 a0001c0005t0005g0028 others(10): Show |
13 | 218 | 0.0596 | -3 | c.486 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 30/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13255898 | TTTC | T | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG02723.hp2 others(3): Show |
a0001a0003a0020others(2): Show | a0001c0071a0003c0094a0003c0108others(3): Show | a0001c0071t0013a0003c0094t0018a0003c0108t0012others(3): Show | a0001c0071t0013g0138 a0003c0094t0018g0208 a0003c0108t0012g0211 others(3): Show |
6 | 218 | 0.0275 | -3 | c.459 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 28/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13258928 | TTTC | T | intron_variant | MODIFIER | HG00423.hp2 HG02165.hp1 HG02280.hp1 others(7): Show |
a0001a0002a0008others(3): Show | a0001c0004a0001c0058a0002c0003others(7): Show | a0001c0004t0001a0001c0058t0004a0002c0003t0003others(7): Show | a0001c0004t0001g0199 a0001c0058t0004g0083 a0002c0003t0003g0166 others(7): Show |
10 | 218 | 0.0459 | -3 | c.438 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 27/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13273669 | CTCA | C | intron_variant | MODIFIER | HG02486.hp2 NA20129.hp1 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0001a0002c0002t0015 | a0001c0004t0001g0078 a0002c0002t0015g0160 |
2 | 218 | 0.0092 | -3 | c.398 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 24/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13304659 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00735.hp1 others(28): Show |
a0001a0002a0003others(11): Show | a0001c0018a0001c0020a0001c0049others(23): Show | a0001c0018t0001a0001c0020t0001a0001c0049t0001others(25): Show | a0001c0018t0001g0037 a0001c0018t0001g0056 a0001c0020t0001g0051 others(28): Show |
31 | 218 | 0.1422 | -3 | c.198 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 15/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13305240 | TCCA | T | intron_variant | MODIFIER | HG02615.hp2 HG03225.hp2 NA20300.hp2 |
a0001a0010 | a0001c0016a0010c0083 | a0001c0016t0004a0010c0083t0014 | a0001c0016t0004g0047 a0001c0016t0004g0074 a0010c0083t0014g0159 |
3 | 218 | 0.0138 | -3 | c.198 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 15/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13306059 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp2 others(42): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(31): Show | a0001c0001t0001g0019 a0001c0001t0001g0115 a0001c0001t0001g0128 others(42): Show |
45 | 218 | 0.2064 | -3 | c.198 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 15/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13324712 | TCAA | T | intron_variant | MODIFIER | HG01884.hp2 HG01934.hp1 HG02293.hp1 others(29): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0005others(22): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0004others(28): Show | a0001c0001t0001g0182 a0001c0004t0001g0078 a0001c0005t0004g0201 others(29): Show |
32 | 218 | 0.1468 | -3 | c.134 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13325125 | TTCC | T | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00735.hp1 others(31): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0018others(27): Show | a0001c0001t0001a0001c0005t0008a0001c0018t0001others(28): Show | a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0005t0008g0204 others(31): Show |
34 | 218 | 0.1560 | -3 | c.134 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13325179 | CTCT | C | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02895.hp1 others(4): Show |
a0001a0010a0017others(2): Show | a0001c0016a0001c0026a0010c0083others(3): Show | a0001c0016t0004a0001c0026t0031a0010c0083t0014others(3): Show | a0001c0016t0004g0047 a0001c0016t0004g0074 a0001c0026t0031g0104 others(4): Show |
7 | 218 | 0.0321 | -3 | c.134 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13343125 | TTTC | T | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG03195.hp2 others(2): Show |
a0001a0010a0017others(1): Show | a0001c0016a0010c0083a0017c0040others(1): Show | a0001c0016t0004a0010c0083t0014a0017c0040t0001others(1): Show | a0001c0016t0004g0047 a0001c0016t0004g0074 a0010c0083t0014g0159 others(2): Show |
5 | 218 | 0.0229 | -3 | c.979 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13344741 | TTTA | T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00609.hp1 others(40): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0004a0001c0006others(23): Show | a0001c0001t0004a0001c0004t0001a0001c0004t0015others(32): Show | a0001c0001t0004g0155 a0001c0004t0001g0018 a0001c0004t0001g0199 others(40): Show |
43 | 218 | 0.1973 | -3 | c.979 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13344745 | TTTA | T | intron_variant | MODIFIER | HG03130.hp1 NA20129.hp1 NA20129.hp2 others(1): Show |
a0002a0007a0016 | a0002c0002a0007c0009a0016c0028 | a0002c0002t0015a0007c0009t0038a0016c0028t0007 | a0002c0002t0015g0160 a0007c0009t0038g0153 a0016c0028t0007g0073 others(1): Show |
4 | 218 | 0.0184 | -3 | c.979 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13346661 | TATA | T | intron_variant | MODIFIER | HG01257.hp2 HG01884.hp1 |
a0001a0004 | a0001c0004a0004c0123 | a0001c0004t0011a0004c0123t0009 | a0001c0004t0011g0157 a0004c0123t0009g0077 |
2 | 218 | 0.0092 | -3 | c.979 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13346663 | TATA | T | intron_variant | MODIFIER | NA18906.hp1 NA19000.hp1 |
a0001a0032 | a0001c0005a0032c0045 | a0001c0005t0004a0032c0045t0005 | a0001c0005t0004g0201 a0032c0045t0005g0191 |
2 | 218 | 0.0092 | -3 | c.979 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13348332 | AAAG | A | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp1 HG02615.hp2 others(4): Show |
a0001a0010a0017others(1): Show | a0001c0016a0001c0037a0001c0038others(3): Show | a0001c0016t0004a0001c0037t0004a0001c0038t0007others(3): Show | a0001c0016t0004g0047 a0001c0016t0004g0074 a0001c0037t0004g0021 others(4): Show |
7 | 218 | 0.0321 | -3 | c.978 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13360474 | ATTT | A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01070.hp1 others(50): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0004a0001c0005others(35): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0001others(41): Show | a0001c0001t0001g0019 a0001c0001t0001g0128 a0001c0001t0001g0182 others(50): Show |
53 | 218 | 0.2431 | -3 | c.785 others(18): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 5/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13362020 | TCTC | T | intron_variant | MODIFIER | HG00544.hp2 HG01106.hp2 HG01123.hp2 others(12): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0026others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0008others(10): Show | a0001c0001t0001g0128 a0001c0001t0004g0013 a0001c0001t0004g0218 others(12): Show |
15 | 218 | 0.0688 | -3 | c.785 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 5/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13367017 | CGCG | C | intron_variant | MODIFIER | HG01934.hp1 HG02486.hp1 HG02572.hp1 others(5): Show |
a0001a0002a0003others(4): Show | a0001c0031a0001c0072a0002c0085others(5): Show | a0001c0031t0036a0001c0072t0037a0002c0085t0005others(5): Show | a0001c0031t0036g0215 a0001c0072t0037g0213 a0002c0085t0005g0085 others(5): Show |
8 | 218 | 0.0367 | -3 | c.632 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13369413 | TCTC | T | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG01109.hp2 others(12): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0015others(10): Show | a0001c0001t0001g0030 a0001c0001t0001g0115 a0001c0001t0004g0155 others(12): Show |
15 | 218 | 0.0688 | -3 | c.631 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 4/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13379922 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG01099.hp1 others(35): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0005a0001c0026others(29): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0008others(32): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0128 others(35): Show |
38 | 218 | 0.1743 | -3 | c.540 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13380282 | CAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp1 HG02055.hp2 others(5): Show |
a0001a0002a0004others(4): Show | a0001c0004a0001c0120a0002c0002others(5): Show | a0001c0004t0001a0001c0120t0004a0002c0002t0015others(5): Show | a0001c0004t0001g0080 a0001c0120t0004g0014 a0002c0002t0015g0160 others(5): Show |
8 | 218 | 0.0367 | -3 | c.540 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13399394 | GAGA | G | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(80): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0004a0001c0005others(63): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(70): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0030 others(80): Show |
83 | 218 | 0.3807 | -3 | c.540 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13409315 | CAGT | C | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp1 HG01496.hp1 others(20): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0002c0003others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0115 others(20): Show |
23 | 218 | 0.1055 | -3 | c.540 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13415743 | TAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp1 others(60): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0004a0001c0005others(49): Show | a0001c0001t0001a0001c0001t0004a0001c0004t0015others(54): Show | a0001c0001t0001g0025 a0001c0001t0001g0182 a0001c0001t0001g0193 others(60): Show |
63 | 218 | 0.2890 | -3 | c.539 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13432103 | CAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02165.hp2 HG02451.hp2 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0006a0001c0125a0002c0117others(7): Show | a0001c0006t0029a0001c0125t0013a0002c0117t0009others(7): Show | a0001c0006t0029g0136 a0001c0125t0013g0209 a0002c0117t0009g0079 others(7): Show |
10 | 218 | 0.0459 | -3 | c.539 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13446250 | GAAA | G | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02572.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0005t0005a0001c0006t0029others(10): Show | a0001c0001t0001g0030 a0001c0005t0005g0135 a0001c0006t0029g0136 others(10): Show |
13 | 218 | 0.0596 | -3 | c.539 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13446610 | CTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01099.hp1 others(35): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0001c0006others(32): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0009others(34): Show | a0001c0001t0001g0115 a0001c0005t0001g0187 a0001c0006t0009g0189 others(35): Show |
38 | 218 | 0.1743 | -3 | c.539 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13448082 | GAAA | G | intron_variant | MODIFIER | HG01884.hp2 HG02717.hp1 HG02723.hp1 others(2): Show |
a0001a0015 | a0001c0001a0001c0006a0015c0021 | a0001c0001t0001a0001c0006t0005a0001c0006t0008others(2): Show | a0001c0001t0001g0025 a0001c0006t0005g0110 a0001c0006t0008g0217 others(2): Show |
5 | 218 | 0.0229 | -3 | c.539 others(20): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar |