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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KANK2_chr19_11159270_11202545 | 11172180 | TTGGTCAG others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02109.hp1 others(15): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0030others(13): Show | a0001c0001t0001g0191a0001c0001t0005g0189a0001c0001t0030g0243others(15): Show | 18 | 394 | 0.0457 | -9 | c.221 others(26): Show |
KANK2 | ENSG00000197256.11 | transcript | ENST00000586659.6 | protein_coding | 10/12 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8326481 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02109.hp2 others(9): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0016a0004c0033others(4): Show | a0002c0002t0001a0003c0016t0001a0004c0033t0004others(4): Show | a0002c0002t0001g0036a0003c0016t0001g0033a0003c0016t0001g0034others(9): Show | 12 | 406 | 0.0296 | -9 | c.193 others(28): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8339233 | AATCCAGA others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02922.hp2 HG03130.hp2 others(1): Show |
a0009 | a0009c0013 | a0009c0013t0004 | a0009c0013t0004g0050a0009c0013t0004g0051a0009c0013t0004g0052others(1): Show | 4 | 406 | 0.0099 | -9 | c.-28 others(26): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8339976 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG01167.hp2 others(43): Show |
a0004a0006a0014others(1): Show | a0004c0004a0004c0019a0006c0006others(2): Show | a0004c0004t0002a0004c0019t0002a0006c0006t0002others(2): Show | a0004c0004t0002g0009a0004c0004t0002g0010a0004c0004t0002g0268others(41): Show | 46 | 406 | 0.1133 | -9 | c.-28 others(26): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
KANK4_chr1_62231165_62324434 | 62250715 | ATAATTAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(232): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0009a0001c0027others(41): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(84): Show | a0001c0001t0001g0017a0001c0001t0001g0026a0001c0001t0001g0045others(231): Show | 235 | 322 | 0.7298 | -9 | c.268 others(28): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210141162 | CTGTTTTC others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01123.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(2): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0002g0028others(18): Show | 21 | 284 | 0.0739 | -9 | c.108 others(30): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 2/14 | chr2 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210171295 | GGCCGCCG others(2): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00741.hp1 HG01255.hp1 HG01884.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0014 | a0001c0001t0007g0268a0001c0001t0007g0269a0001c0001t0007g0270others(5): Show | 8 | 284 | 0.0282 | -9 | c.-18 others(18): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 1/15 | 16714 | chr2 | TogoVar | |||||
KANSL1_chr17_46024916_46198429 | 46052964 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG03225.hp1 HG03486.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0002g0123a0001c0001t0002g0150a0001c0001t0008g0191others(3): Show | 6 | 321 | 0.0187 | -9 | c.184 others(28): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KASH5_chr19_49383249_49422990 | 49384221 | TTTTTTTT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp2 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0014others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(5): Show | a0001c0001t0002g0176a0001c0001t0002g0178a0001c0001t0002g0263others(42): Show | 47 | 354 | 0.1328 | -9 | c.-42 others(20): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 4027 | chr19 | TogoVar | ||||||
KASH5_chr19_49383249_49422990 | 49386797 | GGGAGGGG others(2): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00621.hp2 others(28): Show |
a0001a0003a0010 | a0001c0001a0001c0014a0003c0008others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(3): Show | a0001c0001t0002g0263a0001c0001t0003g0022a0001c0001t0003g0023others(26): Show | 31 | 354 | 0.0876 | -9 | c.-16 others(20): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 1451 | chr19 | TogoVar | ||||||
KAT2A_chr17_42108111_42126367 | 42118066 | GAGAGAGA others(2): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01993.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0005a0001c0007t0001g0025 | 9 | 354 | 0.0254 | -9 | c.118 others(24): Show |
KAT2A | ENSG00000108773.11 | transcript | ENST00000225916.10 | protein_coding | 7/17 | chr17 | TogoVar | ||||||
KAT2A_chr17_42108111_42126367 | 42123695 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(75): Show |
a0001a0003 | a0001c0001a0001c0012a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0012t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0010others(11): Show | 78 | 354 | 0.2203 | -9 | c.-24 others(20): Show |
KAT2A | ENSG00000108773.11 | transcript | ENST00000225916.10 | protein_coding | 2329 | chr17 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74899248 | AATTATTA others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00642.hp1 others(39): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0012a0001c0016others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0184a0001c0001t0001g0195a0001c0001t0001g0200others(39): Show | 42 | 236 | 0.1780 | -9 | c.621 others(28): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KAT6B_chr10_74821600_75037624 | 74981343 | CTTCCTTT others(2): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG03710.hp2 NA18953.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0135a0002c0002t0001g0156a0002c0002t0001g0161 | 3 | 236 | 0.0127 | -9 | c.223 others(26): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KAT6B_chr10_74821600_75037624 | 74996768 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00673.hp2 others(22): Show |
a0003a0008 | a0003c0003a0003c0005a0008c0020 | a0003c0003t0002a0003c0005t0002a0008c0020t0002 | a0003c0003t0002g0020a0003c0003t0002g0025a0003c0003t0002g0028others(22): Show | 25 | 236 | 0.1059 | -9 | c.262 others(28): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KATNAL1_chr13_30197630_30312551 | 30226030 | GGTACTCA others(2): Show |
G | intron_variant | MODIFIER | NA18950.hp2 NA18953.hp2 NA18995.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0050a0001c0001t0163a0001c0001t0198 | a0001c0001t0050g0269a0001c0001t0050g0270a0001c0001t0163g0268others(1): Show | 4 | 386 | 0.0104 | -9 | c.114 others(28): Show |
KATNAL1 | ENSG00000102781.14 | transcript | ENST00000380615.8 | protein_coding | 9/10 | chr13 | TogoVar | ||||||
KATNAL1_chr13_30197630_30312551 | 30307394 | GGCCGCCG others(2): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02083.hp1 NA18969.hp1 NA19000.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0060a0001c0001t0061others(2): Show | a0001c0001t0023g0008a0001c0001t0023g0011a0001c0001t0060g0010others(3): Show | 6 | 386 | 0.0155 | -9 | c.-87 others(16): Show |
KATNAL1 | ENSG00000102781.14 | transcript | ENST00000380615.8 | protein_coding | 1/11 | 23618 | chr13 | TogoVar | |||||
KATNBL1_chr15_34135674_34215096 | 34143486 | ATTCTGAT others(2): Show |
A | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0235a0001c0001t0004g0237a0001c0001t0004g0238others(1): Show | 4 | 344 | 0.0116 | -9 | c.883 others(26): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 9/9 | chr15 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14600666 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0012others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0067a0001c0001t0001g0068a0001c0001t0001g0075others(31): Show | 34 | 146 | 0.2329 | -9 | c.226 others(26): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14650032 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00558.hp2 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0025a0001c0001t0001g0052a0001c0001t0002g0003others(36): Show | 39 | 146 | 0.2671 | -9 | c.226 others(28): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14657077 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01106.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0086a0001c0001t0002g0144a0001c0001t0003g0005others(9): Show | 12 | 146 | 0.0822 | -9 | c.226 others(28): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14727450 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01192.hp1 others(4): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0005others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0005t0011others(2): Show | a0001c0001t0001g0067a0002c0002t0001g0038a0002c0002t0001g0053others(4): Show | 7 | 146 | 0.0480 | -9 | c.226 others(30): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14789760 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01516.hp2 HG01891.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0012a0002c0002others(2): Show | a0001c0001t0023a0001c0012t0006a0002c0002t0001others(2): Show | a0001c0001t0023g0127a0001c0012t0006g0069a0002c0002t0001g0013others(3): Show | 6 | 146 | 0.0411 | -9 | c.227 others(30): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14798416 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG01099.hp2 HG01192.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0012others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0007a0001c0001t0002g0090a0001c0001t0002g0129others(20): Show | 23 | 146 | 0.1575 | -9 | c.227 others(30): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14805762 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02257.hp1 HG03130.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0053a0002c0002t0001g0062a0002c0002t0001g0124others(1): Show | 4 | 146 | 0.0274 | -9 | c.227 others(30): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14808290 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00621.hp2 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0052a0001c0001t0002g0046a0001c0001t0003g0136others(21): Show | 24 | 146 | 0.1644 | -9 | c.227 others(30): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14857831 | GATATAGT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(61): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0052a0001c0001t0001g0068a0001c0001t0002g0003others(61): Show | 64 | 146 | 0.4384 | -9 | c.227 others(30): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14906174 | TATTATAA others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01169.hp2 HG02257.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(1): Show | a0001c0001t0002g0035a0001c0001t0009g0033a0001c0001t0010g0048others(3): Show | 6 | 146 | 0.0411 | -9 | c.227 others(28): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14906177 | TATAATAA others(2): Show |
T | intron_variant | MODIFIER | HG02083.hp2 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0109a0001c0001t0002g0144 | 2 | 146 | 0.0137 | -9 | c.227 others(28): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14949155 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01169.hp2 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0035a0002c0002t0001g0004a0002c0002t0001g0015 | 3 | 146 | 0.0206 | -9 | c.227 others(28): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14989331 | CCAGGTTT others(2): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG02572.hp1 HG02572.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0002g0145a0001c0001t0003g0088a0001c0001t0008g0030others(4): Show | 7 | 146 | 0.0480 | -9 | c.418 others(28): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 2/14 | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15001009 | AGGAGAGT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(31): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0025a0001c0001t0002g0092a0001c0001t0002g0109others(31): Show | 34 | 146 | 0.2329 | -9 | c.419 others(28): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 2/14 | chr1 | TogoVar | ||||||
KBTBD12_chr3_127910232_127992666 | 127937172 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(124): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(17): Show | a0001c0001t0001g0290a0001c0001t0004g0016a0001c0001t0004g0042others(108): Show | 127 | 402 | 0.3159 | -9 | c.149 others(28): Show |
KBTBD12 | ENSG00000187715.13 | transcript | ENST00000405109.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KBTBD12_chr3_127910232_127992666 | 127945164 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG02257.hp1 HG02896.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0002 | a0001c0001t0001a0001c0005t0011a0003c0002t0002 | a0001c0001t0001g0134a0001c0005t0011g0025a0001c0005t0011g0026others(3): Show | 8 | 402 | 0.0199 | -9 | c.149 others(30): Show |
KBTBD12 | ENSG00000187715.13 | transcript | ENST00000405109.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KBTBD2_chr7_32863172_32896760 | 32891874 | GCCCGCCG others(2): Show |
G | upstream_gene_variant | MODIFIER | NA18965.hp1 NA19057.hp1 NA19059.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027a0001c0001t0002g0054a0001c0001t0002g0055 | 4 | 434 | 0.0092 | -9 | c.-68 others(18): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 115 | chr7 | TogoVar | ||||||
KCMF1_chr2_84966161_85064472 | 85026459 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0061 | a0001c0001t0002g0075a0001c0001t0002g0080a0001c0001t0061g0194 | 3 | 274 | 0.0110 | -9 | c.17- others(24): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KCNAB1_chr3_156115578_156543605 | 156219695 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02027.hp2 HG02083.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0001g0016others(16): Show | 19 | 124 | 0.1532 | -9 | c.275 others(28): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNAB1_chr3_156115578_156543605 | 156224449 | AGCGAGGG others(2): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02965.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0003 | a0001c0001t0001g0117a0001c0001t0004g0116a0001c0002t0003g0120 | 3 | 124 | 0.0242 | -9 | c.275 others(30): Show |
KCNAB1 | ENSG00000169282.19 | transcript | ENST00000490337.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KCNB1_chr20_49358877_49487668 | 49418461 | TTGTGAGT others(2): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01175.hp2 HG02055.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0006a0001c0001t0027others(5): Show | a0001c0001t0001g0074a0001c0001t0006g0254a0001c0001t0027g0245others(6): Show | 9 | 278 | 0.0324 | -9 | c.568 others(28): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
KCNB1_chr20_49358877_49487668 | 49425660 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG02109.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0034 | a0001c0001t0027g0245a0001c0001t0027g0251a0001c0001t0034g0165 | 3 | 278 | 0.0108 | -9 | c.568 others(28): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
KCNB2_chr8_72532225_72943349 | 72676001 | GTTGAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00673.hp1 others(63): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0060others(63): Show | 66 | 164 | 0.4024 | -9 | c.579 others(30): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNB2_chr8_72532225_72943349 | 72749783 | TTATATAT others(2): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG01109.hp1 HG01978.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0057a0001c0001t0002g0066a0001c0001t0002g0067others(8): Show | 11 | 164 | 0.0671 | -9 | c.579 others(30): Show |
KCNB2 | ENSG00000182674.6 | transcript | ENST00000523207.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNC1_chr11_17729781_17788057 | 17757011 | TAATCTGC others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG01081.hp1 others(15): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0132a0001c0001t0001g0136others(13): Show | 18 | 332 | 0.0542 | -9 | c.571 others(28): Show |
KCNC1 | ENSG00000129159.9 | transcript | ENST00000265969.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KCNC2_chr12_75035078_75214839 | 75121947 | TGACTCAG others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(312): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0022others(312): Show | 315 | 316 | 0.9968 | -9 | c.688 others(28): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75138979 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01099.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0066a0001c0001t0001g0110a0001c0001t0001g0114others(5): Show | 8 | 316 | 0.0253 | -9 | c.687 others(28): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCNC2_chr12_75035078_75214839 | 75201290 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(58): Show |
a0001 | a0001c0001a0001c0007a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0022others(58): Show | 61 | 316 | 0.1930 | -9 | c.687 others(26): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
KCND1_chrX_48956380_48976844 | 48957725 | AGGAGGCG others(2): Show |
A | downstream_gene_variant | MODIFIER | HG02071.hp1 HG02155.hp1 HG04228.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0002g0001 | 4 | 306 | 0.0131 | -9 | c.*48 others(20): Show |
KCND1 | ENSG00000102057.10 | transcript | ENST00000218176.4 | protein_coding | 3654 | chrX | TogoVar | ||||||
KCND2_chr7_120268175_120755337 | 120443352 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02055.hp2 HG02622.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0020a0001c0001t0004g0028a0001c0001t0004g0029others(10): Show | 13 | 80 | 0.1625 | -9 | c.111 others(32): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KCND2_chr7_120268175_120755337 | 120604510 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00621.hp2 others(42): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0012a0001c0001t0001g0019a0001c0001t0001g0041others(42): Show | 45 | 80 | 0.5625 | -9 | c.111 others(32): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KCND2_chr7_120268175_120755337 | 120701240 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01891.hp1 HG02080.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0001g0026a0001c0001t0001g0042a0001c0001t0001g0054others(9): Show | 12 | 80 | 0.1500 | -9 | c.111 others(30): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |