regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CA5A_chr16_87883013_87941529 | 87899919 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02717.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0003a0001c0003t0002a0002c0005t0001 | a0001c0001t0003g0049a0001c0001t0003g0065a0001c0001t0003g0230others(3): Show | 6 | 400 | 0.0150 | -8 | c.618 others(25): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87917770 | GTGCACAC others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01891.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0068a0001c0001t0001g0195a0001c0001t0001g0199others(11): Show | 14 | 400 | 0.0350 | -8 | c.340 others(25): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87938803 | CTCACTCA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(32): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(5): Show | a0001c0001t0001g0091a0001c0001t0001g0092a0001c0001t0001g0101others(32): Show | 35 | 400 | 0.0875 | -8 | c.-23 others(19): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2275 | chr16 | TogoVar | ||||||
CA5B_chrX_15733270_15793411 | 15746056 | GTCTCGCT others(1): Show |
G | intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0188 | 1 | 274 | 0.0037 | -8 | c.-53 others(25): Show |
CA5B | ENSG00000169239.14 | transcript | ENST00000318636.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CA5B_chrX_15733270_15793411 | 15746061 | GCTCTGTC others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(267): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(35): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(258): Show | 270 | 274 | 0.9854 | -8 | c.-53 others(25): Show |
CA5B | ENSG00000169239.14 | transcript | ENST00000318636.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CA6_chr1_8940868_8980092 | 8977700 | AAAAGAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(64): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0006a0002c0001others(9): Show | a0001c0002t0001a0001c0002t0002a0001c0006t0002others(13): Show | a0001c0002t0001g0132a0001c0002t0001g0168a0001c0002t0001g0170others(63): Show | 67 | 452 | 0.1482 | -8 | c.*29 others(19): Show |
CA6 | ENSG00000131686.15 | transcript | ENST00000377443.7 | protein_coding | 2609 | chr1 | TogoVar | ||||||
CA7_chr16_66839414_66859147 | 66852594 | AAAGAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00621.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0019a0001c0001t0001g0048others(3): Show | 17 | 394 | 0.0432 | -8 | c.517 others(23): Show |
CA7 | ENSG00000168748.14 | transcript | ENST00000338437.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CA7_chr16_66839414_66859147 | 66855240 | CTTATTTA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01175.hp1 HG01257.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0010others(17): Show | 38 | 394 | 0.0965 | -8 | c.*17 others(19): Show |
CA7 | ENSG00000168748.14 | transcript | ENST00000338437.7 | protein_coding | 1094 | chr16 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60185172 | AAAATGAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0027a0001c0003t0006a0001c0003t0026 | a0001c0002t0027g0087a0001c0003t0006g0002a0001c0003t0006g0024others(5): Show | 8 | 344 | 0.0233 | -8 | c.*48 others(19): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 239 | chr8 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60190432 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(68): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0213others(65): Show | 71 | 344 | 0.2064 | -8 | c.*36 others(23): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60192937 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02976.hp1 HG03540.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0002t0014a0001c0002t0048 | a0001c0001t0017g0324a0001c0001t0017g0325a0001c0001t0017g0326others(2): Show | 5 | 344 | 0.0145 | -8 | c.*36 others(25): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60219929 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp1 HG01099.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0004others(1): Show | a0001c0001t0002g0220a0001c0001t0002g0258a0001c0001t0002g0259others(11): Show | 14 | 344 | 0.0407 | -8 | c.738 others(25): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 7/8 | chr8 | TogoVar | ||||||
CA8_chr8_60180412_60286400 | 60279115 | TTAAATAA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(109): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0005a0001c0002t0008others(18): Show | a0001c0002t0004g0006a0001c0002t0004g0007a0001c0002t0004g0100others(107): Show | 112 | 344 | 0.3256 | -8 | c.292 others(23): Show |
CA8 | ENSG00000178538.10 | transcript | ENST00000317995.5 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CAAP1_chr9_26835685_26897802 | 26847198 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG01081.hp1 others(34): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0006 | a0001c0001t0001a0001c0001t0008a0002c0003t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(30): Show | 37 | 372 | 0.0995 | -8 | c.740 others(25): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 5/5 | chr9 | TogoVar | ||||||
CAAP1_chr9_26835685_26897802 | 26849684 | CCTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01496.hp2 HG01891.hp1 others(18): Show |
a0002a0007 | a0002c0003a0002c0007a0007c0006 | a0002c0003t0001a0002c0007t0011a0007c0006t0001 | a0002c0003t0001g0001a0002c0003t0001g0018a0002c0003t0001g0019others(17): Show | 21 | 372 | 0.0565 | -8 | c.740 others(25): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 5/5 | chr9 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49329544 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01928.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0084a0001c0001t0003g0010a0001c0001t0003g0023others(11): Show | 14 | 324 | 0.0432 | -8 | c.834 others(25): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49337732 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0011a0001c0001t0014others(3): Show | a0001c0001t0002g0055a0001c0001t0002g0107a0001c0001t0002g0113others(44): Show | 47 | 324 | 0.1451 | -8 | c.690 others(25): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 9/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49361561 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG01975.hp2 HG02258.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0309a0001c0001t0002g0289a0001c0001t0004g0100others(3): Show | 6 | 324 | 0.0185 | -8 | c.277 others(25): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49405719 | GAGGAAGG others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02071.hp1 HG02083.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0095a0001c0001t0001g0106a0001c0001t0001g0190others(26): Show | 29 | 324 | 0.0895 | -8 | c.-31 others(27): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49439921 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG01257.hp1 HG02015.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0261a0001c0001t0001g0262others(22): Show | 26 | 324 | 0.0803 | -8 | c.-24 others(27): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49440715 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01928.hp1 HG02109.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0106a0001c0001t0001g0109a0001c0001t0001g0284others(16): Show | 19 | 324 | 0.0586 | -8 | c.-24 others(27): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230756657 | GTTTGTTT others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG01168.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(12): Show | a0001c0001t0001g0026a0001c0001t0005g0123a0001c0001t0005g0126others(21): Show | 24 | 342 | 0.0702 | -8 | c.-43 others(25): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230782789 | GTTTCTTT others(1): Show |
G | intron_variant | MODIFIER | HG00597.hp2 HG02258.hp2 NA18973.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0051a0001c0001t0002g0252a0001c0001t0002g0269others(2): Show | 5 | 342 | 0.0146 | -8 | c.115 others(25): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAB39_chr2_230707842_230826075 | 230786163 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01109.hp2 HG01168.hp2 others(70): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0012others(22): Show | a0001c0001t0003g0180a0001c0001t0003g0181a0001c0001t0003g0182others(70): Show | 73 | 342 | 0.2135 | -8 | c.115 others(25): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CABCOCO1_chr10_61657929_61771766 | 61710253 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(130): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0100others(126): Show | 133 | 374 | 0.3556 | -8 | c.552 others(27): Show |
CABCOCO1 | ENSG00000183346.9 | transcript | ENST00000648843.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CABIN1_chr22_24006304_24183628 | 24011076 | AACACACA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02622.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0002others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0003t0001g0020others(2): Show | 5 | 268 | 0.0187 | -8 | c.-36 others(17): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 227 | chr22 | TogoVar | ||||||
CABIN1_chr22_24006304_24183628 | 24062346 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG02027.hp2 HG02523.hp2 others(23): Show |
a0001 | a0001c0004a0001c0009a0001c0011others(3): Show | a0001c0004t0001a0001c0009t0001a0001c0011t0001others(3): Show | a0001c0004t0001g0162a0001c0004t0001g0194a0001c0004t0001g0198others(23): Show | 26 | 268 | 0.0970 | -8 | c.169 others(25): Show |
CABIN1 | ENSG00000099991.18 | transcript | ENST00000263119.10 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CABLES1_chr18_23130485_23265470 | 23174821 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01074.hp1 HG01081.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0260a0001c0001t0002g0065a0001c0001t0002g0115others(15): Show | 18 | 278 | 0.0648 | -8 | c.846 others(27): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CABLES1_chr18_23130485_23265470 | 23191906 | TAAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02257.hp2 HG02280.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0007a0001c0001t0016others(3): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0041others(5): Show | 8 | 278 | 0.0288 | -8 | c.918 others(25): Show |
CABLES1 | ENSG00000134508.13 | transcript | ENST00000256925.12 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CABLES2_chr20_62383634_62412285 | 62385102 | TCAAACAA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(142): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0011a0001c0001t0016a0001c0001t0021others(22): Show | a0001c0001t0011g0030a0001c0001t0016g0166a0001c0001t0021g0152others(80): Show | 145 | 400 | 0.3625 | -8 | c.*58 others(19): Show |
CABLES2 | ENSG00000149679.12 | transcript | ENST00000279101.10 | protein_coding | 3531 | chr20 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48029794 | CAGACAGA others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01167.hp2 |
a0001a0007 | a0001c0002a0007c0015 | a0001c0002t0028a0007c0015t0073 | a0001c0002t0028g0247a0001c0002t0028g0248a0007c0015t0073g0179 | 3 | 376 | 0.0080 | -8 | c.*75 others(17): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 6/6 | 755 | chr19 | TogoVar | |||||
CABYR_chr18_24134062_24166600 | 24134257 | GTTTTTTG others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01167.hp1 HG01943.hp1 others(24): Show |
a0001a0003a0006 | a0001c0003a0001c0005a0001c0007others(5): Show | a0001c0003t0001a0001c0005t0001a0001c0007t0001others(5): Show | a0001c0003t0001g0003a0001c0003t0001g0007a0001c0003t0001g0011others(18): Show | 27 | 408 | 0.0662 | -8 | c.-48 others(19): Show |
CABYR | ENSG00000154040.21 | transcript | ENST00000399496.8 | protein_coding | 4804 | chr18 | TogoVar | ||||||
CABYR_chr18_24134062_24166600 | 24150759 | AGTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(66): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0006others(4): Show | a0001c0002t0001a0001c0005t0001a0001c0006t0001others(4): Show | a0001c0002t0001g0080a0001c0002t0001g0086a0001c0002t0001g0087others(43): Show | 69 | 408 | 0.1691 | -8 | c.200 others(25): Show |
CABYR | ENSG00000154040.21 | transcript | ENST00000399496.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CACFD1_chr9_133454978_133475848 | 133470189 | CTGTGTGT others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00544.hp1 others(149): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0014a0001c0015others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0025a0001c0001t0001g0034others(39): Show | 152 | 420 | 0.3619 | -8 | c.*15 others(19): Show |
CACFD1 | ENSG00000160325.15 | transcript | ENST00000316948.9 | protein_coding | 5/5 | 1566 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||
CACHD1_chr1_64465129_64698053 | 64477618 | ATTATTAT others(1): Show |
A | intron_variant | MODIFIER | HG01928.hp2 NA19060.hp1 NA19060.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0060a0001c0001t0001g0100a0001c0003t0001g0061 | 3 | 166 | 0.0181 | -8 | c.198 others(25): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64500732 | AAAAGAGA others(1): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02572.hp1 HG02647.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0008a0001c0001t0014others(3): Show | a0001c0001t0005g0002a0001c0001t0005g0008a0001c0001t0005g0011others(10): Show | 13 | 166 | 0.0783 | -8 | c.198 others(27): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64512393 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02622.hp1 HG02717.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(1): Show | a0001c0001t0001g0071a0001c0001t0001g0073a0001c0001t0001g0080others(7): Show | 10 | 166 | 0.0602 | -8 | c.199 others(27): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64613365 | TATAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00597.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0025others(58): Show | 61 | 166 | 0.3675 | -8 | c.517 others(27): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACHD1_chr1_64465129_64698053 | 64640692 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00597.hp1 others(84): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0019a0001c0001t0001g0022a0001c0001t0001g0025others(84): Show | 87 | 166 | 0.5241 | -8 | c.100 others(27): Show |
CACHD1 | ENSG00000158966.16 | transcript | ENST00000651257.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13206944 | GTTTTTTT others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01257.hp2 HG02717.hp2 HG03831.hp2 others(3): Show |
a0001a0003a0005others(2): Show | a0001c0004a0003c0073a0005c0033others(2): Show | a0001c0004t0011a0003c0073t0042a0005c0033t0011others(2): Show | a0001c0004t0011g0157a0003c0073t0042g0026a0005c0033t0011g0010others(3): Show | 6 | 218 | 0.0275 | -8 | c.*36 others(17): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 47/47 | 361 | chr19 | TogoVar | |||||
CACNA1A_chr19_13201442_13511479 | 13216647 | TTATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG02258.hp2 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0002c0085others(8): Show | a0001c0001t0001a0002c0003t0002a0002c0085t0005others(8): Show | a0001c0001t0001g0182a0002c0003t0002g0113a0002c0085t0005g0085others(8): Show | 11 | 218 | 0.0505 | -8 | c.573 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 38/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13268893 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(36): Show |
a0001a0002a0003others(14): Show | a0001c0016a0001c0018a0001c0026others(26): Show | a0001c0016t0004a0001c0018t0001a0001c0026t0001others(31): Show | a0001c0016t0004g0047a0001c0016t0004g0074a0001c0018t0001g0037others(36): Show | 39 | 218 | 0.1789 | -8 | c.399 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 24/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13310454 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02976.hp2 HG03516.hp2 others(2): Show |
a0001a0003a0004 | a0001c0005a0003c0035a0003c0084others(1): Show | a0001c0005t0005a0003c0035t0016a0003c0035t0024others(2): Show | a0001c0005t0005g0135a0003c0035t0016g0076a0003c0035t0024g0005others(2): Show | 5 | 218 | 0.0229 | -8 | c.166 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 12/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13320237 | CGAGAGAG others(1): Show |
C | intron_variant | MODIFIER | HG02559.hp1 NA18906.hp1 NA18975.hp1 |
a0001a0028 | a0001c0005a0028c0119 | a0001c0005t0004a0001c0005t0010a0028c0119t0026 | a0001c0005t0004g0201a0001c0005t0010g0202a0028c0119t0026g0131 | 3 | 218 | 0.0138 | -8 | c.134 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 10/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13334553 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02293.hp1 HG02615.hp2 HG02717.hp2 others(2): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0073others(2): Show | a0001c0001t0001a0002c0003t0003a0003c0073t0042others(2): Show | a0001c0001t0001g0182a0002c0003t0003g0127a0003c0073t0042g0026others(2): Show | 5 | 218 | 0.0229 | -8 | c.108 others(23): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 7/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13344736 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01099.hp1 HG01106.hp2 others(29): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0005a0001c0020others(20): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0004others(24): Show | a0001c0001t0001g0019a0001c0001t0001g0128a0001c0001t0001g0193others(29): Show | 32 | 218 | 0.1468 | -8 | c.979 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13346616 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG02572.hp2 |
a0001a0014 | a0001c0004a0014c0111 | a0001c0004t0001a0014c0111t0004 | a0001c0004t0001g0080a0014c0111t0004g0210 | 2 | 218 | 0.0092 | -8 | c.979 others(27): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 6/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13360265 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG02647.hp2 NA19043.hp2 |
a0033a0042 | a0033c0088a0042c0097 | a0033c0088t0001a0042c0097t0005 | a0033c0088t0001g0207a0042c0097t0005g0059 | 2 | 218 | 0.0092 | -8 | c.785 others(23): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 5/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13363312 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG01106.hp2 HG01123.hp2 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0026others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0008others(10): Show | a0001c0001t0001g0019a0001c0001t0001g0128a0001c0001t0001g0193others(15): Show | 18 | 218 | 0.0826 | -8 | c.784 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 5/46 | chr19 | TogoVar | ||||||
CACNA1A_chr19_13201442_13511479 | 13380745 | GTTTGTTT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp2 HG01934.hp2 others(4): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0050others(4): Show | a0001c0001t0004a0002c0002t0033a0002c0050t0002others(4): Show | a0001c0001t0004g0155a0002c0002t0033g0082a0002c0050t0002g0088others(4): Show | 7 | 218 | 0.0321 | -8 | c.540 others(25): Show |
CACNA1A | ENSG00000141837.22 | transcript | ENST00000360228.11 | protein_coding | 3/46 | chr19 | TogoVar |