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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAKMIP3_chr10_132060946_132189858 | 132187344 | CTGCCCGG others(33): Show |
C | downstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0016 | a0001c0006t0016g0147 | 1 | 156 | 0.0064 | -40 | c.*60 others(51): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2487 | chr10 | TogoVar | |||||||
JAM2_chr21_25634258_25722562 | 25695546 | GGGCGGCC others(33): Show |
G | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0215 | 1 | 326 | 0.0031 | -40 | c.394 others(57): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63337550 | CAAGAAAA others(33): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp1 HG01175.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0091 others(3): Show |
6 | 238 | 0.0252 | -40 | c.333 others(59): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
KANK1_chr9_499695_751103 | 505462 | AAGCGGGC others(33): Show |
A | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 252 | 0.0040 | -40 | c.-84 others(55): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
KANK4_chr1_62231165_62324434 | 62278320 | TCTTCCTT others(33): Show |
T | intron_variant | MODIFIER | HG03491.hp2 HG03654.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0179 a0002c0004t0001g0216 |
2 | 262 | 0.0076 | -40 | c.16+ others(55): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46105861 | ACCTTCAC others(33): Show |
A | intron_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0302 | 1 | 320 | 0.0031 | -40 | c.129 others(61): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | |||||||
KATNAL1_chr13_30197630_30312551 | 30269768 | GTCTGAGA others(33): Show |
G | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0087 | a0001c0001t0087g0153 | 1 | 384 | 0.0026 | -40 | c.323 others(59): Show |
KATNAL1 | ENSG00000102781.14 | transcript | ENST00000380615.8 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
KATNIP_chr16_27545144_27785344 | 27661923 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG03139.hp1 NA18954.hp1 NA18959.hp2 others(2): Show |
a0001a0002a0011 | a0001c0012a0002c0002a0011c0013 | a0001c0012t0002a0002c0002t0003a0011c0013t0003 | a0001c0012t0002g0143 a0002c0002t0003g0063 a0002c0002t0003g0098 others(2): Show |
5 | 150 | 0.0333 | -40 | c.540 others(59): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 6/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KATNIP_chr16_27545144_27785344 | 27718752 | CTGCCCAG others(33): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG01258.hp1 others(4): Show |
a0005a0009 | a0005c0006a0009c0014 | a0005c0006t0001a0009c0014t0001 | a0005c0006t0001g0013 a0005c0006t0001g0058 a0005c0006t0001g0059 others(4): Show |
7 | 150 | 0.0467 | -40 | c.160 others(59): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 13/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14681629 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0047 | 1 | 145 | 0.0069 | -40 | c.226 others(59): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14681633 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0028 | a0001c0001t0009g0115 a0001c0001t0028g0095 |
2 | 129 | 0.0155 | -40 | c.226 others(59): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14681635 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02886.hp1 HG03017.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0006 | a0001c0001t0003a0001c0001t0010a0002c0002t0001others(1): Show | a0001c0001t0003g0136 a0001c0001t0010g0040 a0002c0002t0001g0015 others(1): Show |
4 | 137 | 0.0292 | -40 | c.226 others(59): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14681637 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG02040.hp2 NA18612.hp1 NA18612.hp2 |
a0002a0005a0008 | a0002c0002a0005c0015a0008c0014 | a0002c0002t0001a0005c0015t0013a0008c0014t0005 | a0002c0002t0001g0024 a0005c0015t0013g0121 a0008c0014t0005g0097 |
3 | 143 | 0.0210 | -40 | c.226 others(59): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14918687 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0123 | 1 | 146 | 0.0068 | -40 | c.227 others(59): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14918689 | AAAAAAAA others(33): Show |
A | intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 143 | 0.0070 | -40 | c.227 others(59): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14958361 | GGTACATG others(33): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00642.hp2 others(20): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0016others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0002g0101 others(20): Show |
23 | 146 | 0.1575 | -40 | c.227 others(57): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15050024 | AGTAGGGT others(33): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0094 | 1 | 136 | 0.0074 | -40 | c.726 others(57): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCNC3_chr19_50306937_50334377 | 50324770 | TGTTAGGG others(33): Show |
T | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0155 | 1 | 378 | 0.0026 | -40 | c.871 others(55): Show |
KCNC3 | ENSG00000131398.15 | transcript | ENST00000477616.2 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
KCNC3_chr19_50306937_50334377 | 50331494 | TCTTCTTC others(33): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01070.hp2 others(37): Show |
a0001a0011 | a0001c0001a0001c0007a0001c0018others(1): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0012others(20): Show | a0001c0001t0002g0010 a0001c0001t0002g0134 a0001c0001t0002g0135 others(28): Show |
40 | 279 | 0.1434 | -40 | c.-24 others(51): Show |
KCNC3 | ENSG00000131398.15 | transcript | ENST00000477616.2 | protein_coding | 2118 | chr19 | TogoVar | |||||||
KCNH1_chr1_210673314_211139148 | 211112325 | GGTCTGGG others(33): Show |
G | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090 | 1 | 162 | 0.0062 | -40 | c.80- others(55): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
KCNH2_chr7_150939961_150983321 | 150978891 | AACACACA others(33): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00609.hp1 others(60): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0031 others(48): Show |
63 | 299 | 0.2107 | -40 | c.-10 others(50): Show |
KCNH2 | ENSG00000055118.17 | transcript | ENST00000262186.10 | protein_coding | 571 | chr7 | TogoVar | |||||||
KCNH5_chr14_62694464_63050458 | 63039346 | TATTTAAT others(33): Show |
T | intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0115 | 1 | 222 | 0.0045 | -40 | c.73+ others(55): Show |
KCNH5 | ENSG00000140015.20 | transcript | ENST00000322893.12 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162470423 | ACGCCCGG others(33): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01106.hp2 HG01496.hp2 others(9): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0003t0003a0001c0005t0001 | a0001c0003t0001g0018 a0001c0003t0001g0028 a0001c0003t0001g0054 others(9): Show |
12 | 98 | 0.1224 | -40 | c.112 others(61): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 6/15 | chr2 | TogoVar | |||||||
KCNH7_chr2_162366407_162843767 | 162752903 | AAAAAGAA others(33): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0080 | 1 | 10 | 0.1000 | -40 | c.307 others(59): Show |
KCNH7 | ENSG00000184611.14 | transcript | ENST00000332142.10 | protein_coding | 2/15 | chr2 | TogoVar | |||||||
KCNH8_chr3_19143510_19540642 | 19274842 | ACCCCTCC others(33): Show |
A | intron_variant | MODIFIER | HG02071.hp2 HG02074.hp1 HG02523.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0072 a0001c0001t0002g0049 a0001c0001t0002g0115 others(1): Show |
4 | 128 | 0.0313 | -40 | c.311 others(57): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170599624 | GATGGACC others(33): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00609.hp2 others(101): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 others(101): Show |
104 | 217 | 0.4793 | -40 | c.61+ others(57): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP1_chr5_170499020_170741632 | 170633699 | AGGGGGCG others(33): Show |
A | intron_variant | MODIFIER | HG02630.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0139 a0001c0001t0009g0002 |
2 | 218 | 0.0092 | -40 | c.62- others(57): Show |
KCNIP1 | ENSG00000182132.15 | transcript | ENST00000328939.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21400512 | CCTCTTCT others(33): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 | 1 | 38 | 0.0263 | -40 | c.62- others(59): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21528748 | AAAGAAAG others(33): Show |
A | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 1 | 76 | 0.0132 | -40 | c.61+ others(59): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21528756 | AAAGAAAG others(33): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 74 | 0.0135 | -40 | c.61+ others(59): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21528764 | AAAGAAAG others(33): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 79 | 0.0127 | -40 | c.61+ others(59): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21528768 | AAAGAAAG others(33): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02300.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0008 | a0001c0001t0006g0078 a0001c0002t0008g0047 |
2 | 79 | 0.0253 | -40 | c.61+ others(59): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77573632 | GGAATGGA others(33): Show |
G | intron_variant | MODIFIER | HG02970.hp1 HG03516.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0027 a0001c0001t0003g0029 a0001c0001t0006g0062 |
3 | 81 | 0.0370 | -40 | c.378 others(59): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178757720 | GTATATAT others(33): Show |
G | intron_variant | MODIFIER | HG01358.hp1 HG01515.hp1 HG01952.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0001 | a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0130 others(6): Show |
9 | 202 | 0.0446 | -40 | c.-67 others(59): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758003 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0002g0089 a0001c0001t0002g0117 a0001c0001t0002g0209 others(10): Show |
13 | 131 | 0.0992 | -40 | c.-67 others(59): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNN3_chr1_154692455_154875281 | 154702709 | ATATATAT others(33): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0106 | 1 | 236 | 0.0042 | -40 | c.*52 others(51): Show |
KCNN3 | ENSG00000143603.19 | transcript | ENST00000271915.9 | protein_coding | 8/8 | 5227 | chr1 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63398979 | TGGGTGCC others(33): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0238 | 1 | 328 | 0.0030 | -40 | c.*76 others(51): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1228 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63415360 | AGGGGAGG others(33): Show |
A | intron_variant | MODIFIER | NA18979.hp2 NA19005.hp1 |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0003a0002c0006t0016 | a0001c0003t0003g0263 a0002c0006t0016g0270 |
2 | 327 | 0.0061 | -40 | c.130 others(57): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 12/16 | chr20 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63415376 | ACCGAGCA others(33): Show |
A | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0012 | a0001c0012t0029 | a0001c0012t0029g0045 | 1 | 328 | 0.0030 | -40 | c.130 others(57): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 12/16 | chr20 | TogoVar | |||||||
KCNQ5_chr6_72617064_73203853 | 72941666 | CTCTTTCT others(33): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00741.hp1 HG01099.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(12): Show | a0001c0001t0003g0015 a0001c0001t0003g0069 a0001c0001t0004g0034 others(16): Show |
19 | 21 | 0.9048 | -40 | c.399 others(59): Show |
KCNQ5 | ENSG00000185760.18 | transcript | ENST00000370398.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
KCNRG_chr13_50010444_50025922 | 50015086 | AAAAAAAA others(33): Show |
A | upstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 439 | 0.0023 | -40 | c.-40 others(49): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 357 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50015094 | AATATATA others(33): Show |
A | upstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 354 | 0.0028 | -40 | c.-39 others(49): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 349 | chr13 | TogoVar | |||||||
KCNT1_chr9_135697185_135800502 | 135769103 | GTGTGCAC others(33): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00741.hp2 others(35): Show |
a0001a0006 | a0001c0002a0001c0004a0001c0009others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(19): Show | a0001c0002t0001g0094 a0001c0002t0001g0121 a0001c0002t0001g0184 others(35): Show |
38 | 270 | 0.1407 | -40 | c.151 others(57): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135769120 | TCGGTGCG others(33): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01074.hp1 others(27): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(12): Show | a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0001g0128 others(27): Show |
30 | 235 | 0.1277 | -40 | c.151 others(57): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44181875 | TGTGAGGA others(33): Show |
T | intron_variant | MODIFIER | HG02896.hp1 | a0003 | a0003c0005 | a0003c0005t0003 | a0003c0005t0003g0006 | 1 | 294 | 0.0034 | -40 | c.962 others(57): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KCTD8_chr4_44168903_44453809 | 44181907 | ATCTGAGA others(33): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp2 HG01175.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 a0001c0001t0003g0132 a0001c0001t0003g0196 others(2): Show |
5 | 294 | 0.0170 | -40 | c.962 others(57): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KDM1A_chr1_23014468_23088689 | 23017177 | TTATATAT others(33): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp2 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0117 a0001c0001t0003g0093 a0001c0001t0003g0206 |
3 | 143 | 0.0210 | -40 | c.-24 others(51): Show |
KDM1A | ENSG00000004487.18 | transcript | ENST00000400181.9 | protein_coding | 2290 | chr1 | TogoVar | |||||||
KDM4C_chr9_6752973_7180648 | 6798969 | TGGCCGGG others(33): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01167.hp1 HG01169.hp1 others(19): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0027others(13): Show | a0001c0001t0002a0001c0001t0006a0001c0002t0003others(17): Show | a0001c0001t0002g0184 a0001c0001t0006g0259 a0001c0002t0003g0258 others(19): Show |
22 | 264 | 0.0833 | -40 | c.144 others(57): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6798977 | CAGAGACG others(33): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0028 | a0028c0057 | a0028c0057t0001 | a0028c0057t0001g0213 | 1 | 264 | 0.0038 | -40 | c.144 others(57): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6807651 | ACCCCGTC others(33): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 264 | 0.0038 | -40 | c.320 others(57): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |