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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CA10_chr17_51625320_52163714 | 51731673 | A | AAAAGATT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(64): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0025 a0001c0001t0001g0027 others(64): Show |
67 | 118 | 0.5678 | 7 | c.465 others(26): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51849265 | A | ATATATAT | intron_variant | MODIFIER | NA18950.hp1 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 a0001c0001t0002g0149 |
2 | 154 | 0.0130 | 7 | c.279 others(26): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 52127361 | G | GGGCTTTT | intron_variant | MODIFIER | HG00544.hp1 HG01099.hp1 HG01106.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0104 a0001c0001t0001g0150 others(24): Show |
27 | 154 | 0.1753 | 7 | c.61+ others(24): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 52160791 | A | ATTATTTT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG01099.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0064 others(19): Show |
22 | 133 | 0.1654 | 7 | c.-30 others(18): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2078 | chr17 | TogoVar | |||||||
CA12_chr15_63316378_63386846 | 63334242 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02004.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0017others(4): Show | a0001c0001t0002g0078 a0001c0001t0002g0190 a0001c0001t0008g0068 others(12): Show |
15 | 65 | 0.2308 | 7 | c.874 others(24): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 8/10 | chr15 | TogoVar | |||||||
CA2_chr8_85459007_85486493 | 85473010 | T | TAATAATA | intron_variant | MODIFIER | HG02647.hp2 HG02922.hp1 HG03927.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 a0001c0002t0001g0102 a0001c0002t0001g0116 |
3 | 144 | 0.0208 | 7 | c.233 others(22): Show |
CA2 | ENSG00000104267.10 | transcript | ENST00000285379.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CA4_chr17_60144973_60164546 | 60163196 | G | GGGGCTGT | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02615.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 5 | 378 | 0.0132 | 7 | c.*37 others(18): Show |
CA4 | ENSG00000167434.10 | transcript | ENST00000300900.9 | protein_coding | 3651 | chr17 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8959931 | C | CAAAAAAA | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02280.hp1 others(6): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0011t0001others(4): Show | a0001c0001t0001g0302 a0001c0002t0001g0198 a0001c0011t0001g0136 others(5): Show |
9 | 215 | 0.0419 | 7 | c.501 others(22): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60192976 | C | CACACACA | intron_variant | MODIFIER | HG00738.hp1 HG01255.hp1 HG02071.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0034 | a0001c0001t0002g0243 a0001c0001t0002g0295 a0001c0002t0034g0054 |
3 | 341 | 0.0088 | 7 | c.*36 others(24): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
CA8_chr8_60180412_60286400 | 60285765 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01884.hp1 HG02572.hp1 others(4): Show |
a0001 | a0001c0002a0001c0005a0001c0006 | a0001c0002t0021a0001c0002t0025a0001c0002t0027others(4): Show | a0001c0002t0021g0018 a0001c0002t0025g0015 a0001c0002t0027g0017 others(4): Show |
7 | 142 | 0.0493 | 7 | c.-46 others(18): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 4366 | chr8 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49346120 | T | TATATATC | intron_variant | MODIFIER | HG01192.hp1 HG02015.hp2 HG02071.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0239 a0001c0001t0002g0055 a0001c0001t0002g0066 others(30): Show |
33 | 199 | 0.1658 | 7 | c.565 others(24): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 7/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49439921 | G | GTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00642.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002 | a0001c0001t0002g0066 a0001c0002t0001g0068 a0001c0002t0001g0070 others(13): Show |
16 | 45 | 0.3556 | 7 | c.-24 others(26): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230754305 | T | TTTCTTCC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0042 a0001c0001t0001g0058 a0001c0001t0001g0248 others(78): Show |
81 | 338 | 0.2396 | 7 | c.-43 others(24): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230813978 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG01167.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0063 others(23): Show |
27 | 64 | 0.4219 | 7 | c.628 others(20): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61682889 | C | CTTTTTCT | intron_variant | MODIFIER | HG00621.hp2 HG00738.hp1 HG01071.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(3): Show | a0001c0001t0001g0120 a0001c0001t0001g0144 a0001c0001t0001g0152 others(40): Show |
47 | 182 | 0.2582 | 7 | c.334 others(24): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61720917 | C | CTTTTTTT | intron_variant | MODIFIER | HG00609.hp2 HG01109.hp1 HG01167.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0063 others(4): Show |
7 | 119 | 0.0588 | 7 | c.552 others(26): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24042877 | T | TGTGTGTG | intron_variant | MODIFIER | HG01243.hp1 HG02647.hp2 HG04115.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0085 a0001c0001t0001g0240 a0001c0014t0001g0136 |
3 | 257 | 0.0117 | 7 | c.346 others(20): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 5/36 | chr22 | TogoVar | |||||||
CABLES1_chr18_23130485_23265470 | 23248512 | C | CTTTTTTT | intron_variant | MODIFIER | HG02055.hp2 HG02922.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0097 a0001c0001t0002g0175 a0001c0001t0002g0184 others(3): Show |
6 | 206 | 0.0291 | 7 | c.144 others(26): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABP1_chr12_120635626_120672324 | 120642995 | G | GAAAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01891.hp2 HG01943.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0158 a0001c0001t0001g0159 others(7): Show |
11 | 72 | 0.1528 | 7 | c.654 others(24): Show |
CABP1 | ENSG00000157782.10 | transcript | ENST00000316803.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CABYR_chr18_24134062_24166600 | 24150741 | T | TTCCCACC | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01884.hp2 others(23): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0159 others(20): Show |
26 | 406 | 0.0640 | 7 | c.200 others(24): Show |
CABYR | ENSG00000154040.21 | transcript | ENST00000399496.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CACFD1_chr9_133454978_133475848 | 133458555 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00733.hp2 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0002g0006 others(15): Show |
25 | 95 | 0.2632 | 7 | c.-15 others(18): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 1422 | chr9 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13249820 | T | TGAACCTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(169): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0004a0001c0005others(98): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0015others(109): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 others(169): Show |
172 | 216 | 0.7963 | 7 | c.486 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 30/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13259312 | C | CTTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp1 HG01934.hp1 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0003others(5): Show | a0001c0001t0001a0001c0004t0001a0002c0003t0002others(6): Show | a0001c0001t0001g0183 a0001c0004t0001g0080 a0001c0004t0001g0114 others(9): Show |
12 | 104 | 0.1154 | 7 | c.438 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 27/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13349027 | A | AAAGAGAG | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG01070.hp1 others(24): Show |
a0001a0002a0003others(4): Show | a0001c0004a0001c0005a0001c0006others(22): Show | a0001c0004t0015a0001c0005t0001a0001c0006t0001others(23): Show | a0001c0004t0015g0081 a0001c0005t0001g0204 a0001c0006t0001g0151 others(24): Show |
27 | 200 | 0.1350 | 7 | c.978 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13360313 | G | GAGAGAAC | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG01070.hp1 others(52): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0005others(37): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(38): Show | a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0025 others(52): Show |
55 | 216 | 0.2546 | 7 | c.785 others(22): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 5/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13376830 | C | CATAATAT | intron_variant | MODIFIER | HG00099.hp2 HG01123.hp2 HG02040.hp2 others(8): Show |
a0001a0002a0004others(6): Show | a0001c0005a0001c0071a0001c0120others(8): Show | a0001c0005t0001a0001c0071t0003a0001c0120t0001others(8): Show | a0001c0005t0001g0204 a0001c0071t0003g0138 a0001c0120t0001g0012 others(8): Show |
11 | 214 | 0.0514 | 7 | c.540 others(24): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13433460 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG01975.hp1 others(11): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(9): Show | a0001c0001t0001g0049 a0001c0004t0001g0075 a0001c0005t0001g0201 others(11): Show |
14 | 29 | 0.4828 | 7 | c.539 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13489003 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02109.hp2 others(4): Show |
a0001a0003a0004others(2): Show | a0001c0072a0001c0106a0001c0125others(4): Show | a0001c0072t0003a0001c0106t0001a0001c0125t0003others(4): Show | a0001c0072t0003g0212 a0001c0106t0001g0121 a0001c0125t0003g0213 others(4): Show |
7 | 104 | 0.0673 | 7 | c.293 others(26): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13510056 | A | AGGGGGGG | upstream_gene_variant | MODIFIER | HG01255.hp2 HG01261.hp2 HG01952.hp1 others(13): Show |
a0001a0002a0004others(9): Show | a0001c0004a0001c0006a0002c0003others(13): Show | a0001c0004t0001a0001c0006t0001a0002c0003t0002others(13): Show | a0001c0004t0001g0145 a0001c0006t0001g0184 a0002c0003t0002g0061 others(13): Show |
16 | 58 | 0.2759 | 7 | c.-38 others(18): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3578 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 138128715 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01261.hp1 HG01515.hp1 others(8): Show |
a0001a0002a0003 | a0001c0002a0001c0015a0002c0001others(4): Show | a0001c0002t0002a0001c0015t0002a0002c0001t0020others(5): Show | a0001c0002t0002g0044 a0001c0015t0002g0102 a0002c0001t0020g0045 others(8): Show |
11 | 68 | 0.1618 | 7 | c.*67 others(18): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 4097 | chr9 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2080605 | A | AAAAAAAC | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01071.hp2 others(74): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0034 a0001c0001t0002g0001 a0001c0001t0002g0032 others(74): Show |
77 | 104 | 0.7404 | 7 | c.49+ others(24): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2177590 | T | TCCCTCCC | intron_variant | MODIFIER | HG01106.hp1 HG02145.hp1 HG02280.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0029others(2): Show | a0001c0001t0013a0001c0002t0001a0001c0029t0019others(2): Show | a0001c0001t0013g0013 a0001c0002t0001g0018 a0001c0002t0001g0093 others(3): Show |
6 | 87 | 0.0690 | 7 | c.477 others(26): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | chr12 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2501209 | C | CAAAAAAA | intron_variant | MODIFIER | HG02040.hp2 HG02523.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0034 a0001c0001t0002g0096 a0001c0001t0004g0042 others(3): Show |
6 | 32 | 0.1875 | 7 | c.111 others(26): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53651366 | C | CTTTTTTT | intron_variant | MODIFIER | HG00673.hp1 HG01361.hp1 HG02132.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0045a0001c0001t0047others(8): Show | a0001c0001t0002g0064 a0001c0001t0002g0099 a0001c0001t0045g0119 others(10): Show |
13 | 48 | 0.2708 | 7 | c.623 others(22): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 4/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53660796 | T | TTCACCTG | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp1 HG03471.hp1 others(2): Show |
a0001 | a0001c0009a0001c0023 | a0001c0009t0018a0001c0009t0029a0001c0009t0055others(2): Show | a0001c0009t0018g0085 a0001c0009t0029g0185 a0001c0009t0055g0184 others(2): Show |
5 | 208 | 0.0240 | 7 | c.766 others(22): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 5/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53682365 | T | TAAAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG02027.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0021a0001c0002t0059a0001c0003t0001others(4): Show | a0001c0001t0021g0130 a0001c0002t0059g0144 a0001c0003t0001g0156 others(4): Show |
7 | 20 | 0.3500 | 7 | c.122 others(26): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53767565 | C | CAAAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG02040.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0024a0001c0001t0070a0001c0002t0005others(8): Show | a0001c0001t0024g0068 a0001c0001t0070g0033 a0001c0002t0005g0071 others(13): Show |
16 | 105 | 0.1524 | 7 | c.393 others(26): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 31/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1G_chr17_50555715_50632474 | 50623545 | A | AGGGCTGG | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01081.hp1 others(1): Show |
a0001a0004 | a0001c0028a0001c0038a0004c0018 | a0001c0028t0001a0001c0038t0001a0004c0018t0001 | a0001c0028t0001g0196 a0001c0038t0001g0153 a0004c0018t0001g0176 others(1): Show |
4 | 244 | 0.0164 | 7 | c.606 others(24): Show |
CACNA1G | ENSG00000006283.18 | transcript | ENST00000359106.10 | protein_coding | 35/37 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1216009 | G | GCCCCTGC | intron_variant | MODIFIER | HG00621.hp2 HG01167.hp1 HG01169.hp2 others(21): Show |
a0003a0007a0016others(5): Show | a0003c0015a0003c0028a0003c0107others(7): Show | a0003c0015t0004a0003c0015t0011a0003c0015t0017others(12): Show | a0003c0015t0004g0082 a0003c0015t0011g0014 a0003c0015t0017g0272 others(20): Show |
24 | 336 | 0.0714 | 7 | c.524 others(24): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1S_chr1_201034512_201117426 | 201035818 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00609.hp1 others(56): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(17): Show | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0030 others(55): Show |
59 | 68 | 0.8676 | 7 | c.*40 others(18): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 3693 | chr1 | TogoVar | |||||||
CACNA1S_chr1_201034512_201117426 | 201082029 | A | ATTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG01978.hp2 HG02056.hp1 others(3): Show |
a0001 | a0001c0003a0001c0011a0001c0021 | a0001c0003t0001a0001c0003t0002a0001c0011t0001others(1): Show | a0001c0003t0001g0159 a0001c0003t0001g0210 a0001c0003t0002g0306 others(3): Show |
6 | 96 | 0.0625 | 7 | c.139 others(26): Show |
CACNA1S | ENSG00000081248.12 | transcript | ENST00000362061.4 | protein_coding | 10/43 | chr1 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81951969 | G | GTTTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02027.hp1 HG02027.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0004g0021 a0001c0001t0004g0031 a0001c0001t0004g0042 others(7): Show |
10 | 45 | 0.2222 | 7 | c.316 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81955980 | A | ATATATAT | intron_variant | MODIFIER | HG00621.hp2 HG01167.hp2 HG01258.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0017others(1): Show | a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0046 others(10): Show |
13 | 95 | 0.1368 | 7 | c.315 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 38/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 81974786 | A | AGTATTAG | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00639.hp1 others(105): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0001t0002g0102 others(105): Show |
108 | 142 | 0.7606 | 7 | c.195 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 24/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82140954 | T | TAAAAAAA | intron_variant | MODIFIER | HG02109.hp2 HG02683.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0141 a0001c0001t0003g0016 a0001c0001t0005g0136 others(3): Show |
6 | 89 | 0.0674 | 7 | c.355 others(24): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 4/38 | chr7 | TogoVar | |||||||
CACNA2D1_chr7_81941444_82448777 | 82258817 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01069.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0037 a0001c0001t0001g0047 a0001c0001t0002g0094 others(20): Show |
23 | 41 | 0.5610 | 7 | c.294 others(26): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 3/38 | chr7 | TogoVar | |||||||
CACNA2D3_chr3_54117552_55079557 | 54246724 | C | CAAAAAAA | intron_variant | MODIFIER | HG01169.hp2 HG01243.hp1 HG01884.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0037 a0001c0001t0001g0104 a0001c0002t0001g0081 others(11): Show |
14 | 111 | 0.1261 | 7 | c.205 others(26): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 2/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54394318 | A | ATTTTTTT | intron_variant | MODIFIER | HG00673.hp2 HG02080.hp1 HG02109.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0030 a0001c0002t0001g0040 a0001c0002t0001g0082 others(5): Show |
8 | 75 | 0.1067 | 7 | c.381 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 4/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54554870 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG01106.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0080 a0001c0002t0002g0066 a0001c0003t0001g0011 others(8): Show |
11 | 20 | 0.5500 | 7 | c.545 others(24): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 5/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA2D3_chr3_54117552_55079557 | 54689010 | A | AAAAAGAG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0029 a0001c0004t0001g0007 a0001c0004t0001g0031 others(4): Show |
7 | 18 | 0.3889 | 7 | c.116 others(28): Show |
CACNA2D3 | ENSG00000157445.16 | transcript | ENST00000474759.6 | protein_coding | 11/37 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |