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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C9orf152_chr9_110194561_110213159 | 110198893 | C | CAAAAAAA others(15): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01433.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0044 others(1): Show |
7 | 56 | 0.1250 | 22 | c.*20 others(33): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 667 | chr9 | TogoVar | |||||||
C9orf153_chr9_86215265_86264657 | 86251914 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01109.hp1 HG03195.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0047 a0001c0001t0002g0087 a0001c0001t0002g0094 others(7): Show |
10 | 97 | 0.1031 | 22 | c.-27 others(39): Show |
C9orf153 | ENSG00000187753.13 | transcript | ENST00000339137.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
C9orf57_chr9_72046376_72065613 | 72055374 | C | CTCCCTCC others(15): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 208 | 0.0048 | 22 | c.280 others(37): Show |
C9orf57 | ENSG00000204669.11 | transcript | ENST00000651200.2 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
CA10_chr17_51625320_52163714 | 51707671 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 15 | 0.0667 | 22 | c.465 others(41): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | |||||||
CA12_chr15_63316378_63386846 | 63376600 | T | TTCTTTCT others(15): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00741.hp2 HG01070.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0277 a0001c0001t0001g0284 a0001c0001t0002g0127 others(26): Show |
30 | 250 | 0.1200 | 22 | c.86- others(35): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
CA3_chr8_85433859_85454040 | 85448891 | G | GCATGATT others(15): Show |
3_prime_UTR_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0056 | 1 | 362 | 0.0028 | 22 | c.*73 others(31): Show |
CA3 | ENSG00000164879.7 | transcript | ENST00000285381.3 | protein_coding | 7/7 | 761 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CA5A_chr16_87883013_87941529 | 87937799 | C | CTTTCTTT others(15): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0055 | 1 | 357 | 0.0028 | 22 | c.-13 others(33): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 1271 | chr16 | TogoVar | |||||||
CA6_chr1_8940868_8980092 | 8960789 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0293 | 1 | 32 | 0.0313 | 22 | c.501 others(39): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8960789 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02040.hp2 HG02258.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0006 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0268 a0001c0001t0001g0270 others(7): Show |
12 | 43 | 0.2791 | 22 | c.501 others(39): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA6_chr1_8940868_8980092 | 8973784 | C | CTTTTTCT others(15): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02896.hp1 |
a0004a0005 | a0004c0008a0005c0022 | a0004c0008t0001a0005c0022t0001 | a0004c0008t0001g0216 a0005c0022t0001g0042 |
2 | 247 | 0.0081 | 22 | c.845 others(37): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60190957 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0236 a0001c0001t0002g0237 |
2 | 204 | 0.0098 | 22 | c.*36 others(37): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
CAAP1_chr9_26835685_26897802 | 26847198 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 17 | 0.0588 | 22 | c.740 others(39): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 5/5 | chr9 | TogoVar | |||||||
CAAP1_chr9_26835685_26897802 | 26872553 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0027 | 1 | 318 | 0.0031 | 22 | c.666 others(41): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 4/5 | chr9 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49346100 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00597.hp2 others(21): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0002t0001g0070 a0001c0002t0001g0084 a0001c0002t0001g0096 others(21): Show |
24 | 186 | 0.1290 | 22 | c.565 others(39): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 7/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49441221 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01243.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0051 a0001c0001t0001g0265 a0001c0001t0001g0296 others(14): Show |
17 | 204 | 0.0833 | 22 | c.-24 others(41): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49441221 | G | GTGTATAT others(15): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 others(4): Show |
7 | 194 | 0.0361 | 22 | c.-24 others(41): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar | |||||||
CAB39_chr2_230707842_230826075 | 230748827 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0139 | 1 | 307 | 0.0033 | 22 | c.-43 others(41): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230748829 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 250 | 0.0040 | 22 | c.-43 others(41): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230782809 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02630.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0012a0003c0003t0012 | a0001c0001t0012g0173 a0003c0003t0012g0178 |
2 | 247 | 0.0081 | 22 | c.115 others(39): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61680652 | T | TTATGTTA others(15): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02083.hp2 HG02132.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 others(18): Show |
21 | 284 | 0.0739 | 22 | c.165 others(37): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABCOCO1_chr10_61657929_61771766 | 61720917 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0023 | 1 | 113 | 0.0088 | 22 | c.552 others(41): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24042818 | C | CTCTGTGT others(15): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0113 | 1 | 43 | 0.0233 | 22 | c.346 others(35): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24042818 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02145.hp2 NA18963.hp2 NA19005.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0062 a0001c0001t0001g0238 a0001c0003t0001g0123 others(1): Show |
4 | 46 | 0.0870 | 22 | c.346 others(35): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23174821 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | NA18990.hp1 NA18990.hp2 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014a0001c0001t0044 | a0001c0001t0001g0015 a0001c0001t0014g0138 a0001c0001t0044g0014 |
3 | 28 | 0.1071 | 22 | c.846 others(41): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES1_chr18_23130485_23265470 | 23188543 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0167 a0001c0001t0011g0168 a0001c0001t0011g0169 others(1): Show |
4 | 210 | 0.0190 | 22 | c.846 others(37): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CABLES2_chr20_62383634_62412285 | 62397671 | T | TCCCTTAT others(15): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0158 | 1 | 398 | 0.0025 | 22 | c.363 others(39): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
CABP5_chr19_48024383_48049079 | 48029798 | C | CAGAGAGA others(15): Show |
3_prime_UTR_variant | MODIFIER | HG01175.hp1 HG02698.hp1 HG03017.hp1 |
a0002 | a0002c0003a0002c0006 | a0002c0003t0003a0002c0006t0003a0002c0006t0009 | a0002c0003t0003g0015 a0002c0006t0003g0118 a0002c0006t0009g0011 |
3 | 85 | 0.0353 | 22 | c.*73 others(31): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 6/6 | 758 | chr19 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64543402 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03041.hp2 HG03195.hp2 others(1): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(1): Show | a0001c0001t0002g0145 a0001c0001t0012g0048 a0001c0001t0013g0014 others(1): Show |
4 | 18 | 0.2222 | 22 | c.199 others(39): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACHD1_chr1_64465129_64698053 | 64606106 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01168.hp1 HG01258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0002t0001g0023 others(11): Show |
14 | 94 | 0.1489 | 22 | c.517 others(39): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13294487 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0020 | a0020c0021 | a0020c0021t0001 | a0020c0021t0001g0045 | 1 | 72 | 0.0139 | 22 | c.308 others(41): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 19/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13310487 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0114 | a0002c0114t0002 | a0002c0114t0002g0189 | 1 | 122 | 0.0082 | 22 | c.166 others(41): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13310489 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG02451.hp1 HG04184.hp1 |
a0002a0003 | a0002c0002a0003c0013 | a0002c0002t0002a0003c0013t0001 | a0002c0002t0002g0142 a0003c0013t0001g0150 |
2 | 81 | 0.0247 | 22 | c.166 others(41): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13318890 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01255.hp1 HG02615.hp1 others(6): Show |
a0001a0003a0008others(3): Show | a0001c0037a0001c0096a0003c0039others(6): Show | a0001c0037t0001a0001c0096t0010a0003c0039t0001others(6): Show | a0001c0037t0001g0028 a0001c0096t0010g0003 a0003c0039t0001g0074 others(6): Show |
9 | 75 | 0.1200 | 22 | c.134 others(41): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13336594 | G | GGAGAGAG others(15): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02896.hp2 HG02970.hp2 others(6): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0082a0004c0093others(5): Show | a0001c0001t0001a0002c0082t0002a0004c0093t0001others(5): Show | a0001c0001t0001g0038 a0001c0001t0001g0168 a0002c0082t0002g0060 others(6): Show |
9 | 55 | 0.1636 | 22 | c.979 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13360265 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01978.hp1 NA18979.hp2 |
a0001a0005 | a0001c0004a0005c0022 | a0001c0004t0001a0005c0022t0001 | a0001c0004t0001g0145 a0005c0022t0001g0090 |
2 | 87 | 0.0230 | 22 | c.785 others(37): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 5/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13406509 | A | ATATATAT others(15): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0040 | a0040c0119 | a0040c0119t0012 | a0040c0119t0012g0130 | 1 | 188 | 0.0053 | 22 | c.540 others(41): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13413884 | A | AAGAAAAG others(15): Show |
intron_variant | MODIFIER | HG02698.hp2 NA18906.hp1 NA20300.hp1 |
a0001a0004a0021 | a0001c0005a0004c0007a0021c0028 | a0001c0005t0001a0004c0007t0001a0021c0028t0002 | a0001c0005t0001g0201 a0004c0007t0001g0098 a0021c0028t0002g0073 |
3 | 201 | 0.0149 | 22 | c.539 others(41): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13415743 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0028 | a0028c0112 | a0028c0112t0005 | a0028c0112t0005g0205 | 1 | 30 | 0.0333 | 22 | c.539 others(41): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13433460 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01993.hp1 HG01993.hp2 |
a0001a0012 | a0001c0018a0012c0023 | a0001c0018t0001a0012c0023t0002 | a0001c0018t0001g0031 a0012c0023t0002g0164 |
2 | 17 | 0.1176 | 22 | c.539 others(41): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar | |||||||
CACNA1A_chr19_13201442_13511479 | 13464543 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0135 | 1 | 105 | 0.0095 | 22 | c.294 others(39): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 1/46 | chr19 | TogoVar | |||||||
CACNA1B_chr9_137872782_138129619 | 137954856 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(31): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0001c0007others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(15): Show | a0001c0002t0001g0032 a0001c0002t0001g0036 a0001c0002t0001g0056 others(31): Show |
34 | 158 | 0.2152 | 22 | c.107 others(39): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138094457 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0050 | 1 | 193 | 0.0052 | 22 | c.509 others(41): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 36/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1B_chr9_137872782_138129619 | 138118339 | T | TTGAGACT others(15): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0003 | a0001c0003t0043 | a0001c0003t0043g0127 | 1 | 246 | 0.0041 | 22 | c.591 others(39): Show |
CACNA1B | ENSG00000148408.14 | transcript | ENST00000371372.6 | protein_coding | 43/46 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2318903 | G | GAGAGAAG others(15): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0003 | a0003c0023 | a0003c0023t0011 | a0003c0023t0011g0048 | 1 | 104 | 0.0096 | 22 | c.478 others(43): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2380030 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0104 | 1 | 71 | 0.0141 | 22 | c.478 others(41): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2420102 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03041.hp2 HG03239.hp2 others(1): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0003t0037a0001c0004t0004others(1): Show | a0001c0002t0001g0028 a0001c0003t0037g0003 a0001c0004t0004g0086 others(1): Show |
4 | 30 | 0.1333 | 22 | c.478 others(41): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2497969 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG01993.hp2 NA18966.hp2 NA21309.hp1 |
a0001 | a0001c0002a0001c0003a0001c0014 | a0001c0002t0003a0001c0003t0009a0001c0014t0032 | a0001c0002t0003g0061 a0001c0003t0009g0085 a0001c0014t0032g0023 |
3 | 35 | 0.0857 | 22 | c.111 others(41): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 7/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53682365 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0013 | a0001c0013t0049 | a0001c0013t0049g0095 | 1 | 14 | 0.0714 | 22 | c.122 others(41): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 8/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53782260 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0179 | 1 | 202 | 0.0050 | 22 | c.485 others(39): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 40/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CACNA1D_chr3_53489611_53818733 | 53782264 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0073 | 1 | 21 | 0.0476 | 22 | c.485 others(39): Show |
CACNA1D | ENSG00000157388.20 | transcript | ENST00000288139.11 | protein_coding | 40/48 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |