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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JMJD1C_chr10_63162225_63470977 | 63292144 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02015.hp1 HG02080.hp1 |
a0002a0003a0008 | a0002c0002a0003c0003a0008c0009 | a0002c0002t0001a0003c0003t0001a0008c0009t0001 | a0002c0002t0001g0242a0003c0003t0001g0165a0008c0009t0001g0193 | 3 | 310 | 0.0097 | 24 | c.334 others(43): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63305629 | C | CGTGTGTG others(17): Show |
intron_variant | MODIFIER | HG01952.hp1 HG02738.hp2 |
a0004a0013 | a0004c0004a0013c0018 | a0004c0004t0002a0013c0018t0002 | a0004c0004t0002g0008a0013c0018t0002g0005 | 2 | 310 | 0.0065 | 24 | c.334 others(43): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63387629 | A | ATTTTTTT others(17): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0131 | 1 | 310 | 0.0032 | 24 | c.169 others(41): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 1/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63392867 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0049 | 2 | 310 | 0.0065 | 24 | c.169 others(43): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 1/25 | chr10 | TogoVar | ||||||
JOSD1_chr22_38680543_38705943 | 38689912 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02717.hp1 NA18967.hp2 NA18990.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0025 | a0001c0002t0002g0098a0001c0002t0002g0105a0001c0002t0002g0116others(1): Show | 4 | 376 | 0.0106 | 24 | c.186 others(39): Show |
JOSD1 | ENSG00000100221.11 | transcript | ENST00000683374.1 | protein_coding | 2/4 | chr22 | TogoVar | ||||||
JOSD2_chr19_50500998_50516191 | 50511950 | G | GCACAGAG others(17): Show |
upstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0147 | 1 | 376 | 0.0027 | 24 | c.-85 others(33): Show |
JOSD2 | ENSG00000161677.12 | transcript | ENST00000598418.6 | protein_coding | 760 | chr19 | TogoVar | ||||||
JPH1_chr8_74229700_74326540 | 74296019 | G | GACACACA others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02258.hp1 HG02717.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0173a0001c0001t0001g0183a0001c0001t0002g0194others(5): Show | 8 | 330 | 0.0242 | 24 | c.113 others(45): Show |
JPH1 | ENSG00000104369.5 | transcript | ENST00000342232.5 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44126168 | G | GAGGAAGG others(17): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0006 | a0001c0006t0088 | a0001c0006t0088g0223 | 1 | 338 | 0.0030 | 24 | c.117 others(43): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44126168 | G | GAGGGAGG others(17): Show |
intron_variant | MODIFIER | HG03942.hp2 NA19009.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0012a0002c0005t0004 | a0001c0001t0012g0145a0002c0005t0004g0215 | 2 | 338 | 0.0059 | 24 | c.117 others(43): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44126168 | G | GAGGGAGG others(17): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0004 | a0001c0004t0113 | a0001c0004t0113g0336 | 1 | 338 | 0.0030 | 24 | c.117 others(43): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87617121 | G | GCTGAGGC others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02572.hp1 HG02717.hp1 others(2): Show |
a0001 | a0001c0006a0001c0011 | a0001c0006t0001a0001c0011t0002 | a0001c0006t0001g0028a0001c0011t0002g0017a0001c0011t0002g0094others(2): Show | 5 | 380 | 0.0132 | 24 | c.382 others(43): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
JPH3_chr16_87597508_87703156 | 87677185 | T | TATACACA others(17): Show |
intron_variant | MODIFIER | HG00621.hp2 NA18969.hp1 NA18997.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0056a0001c0004t0001g0132a0001c0004t0001g0218 | 3 | 380 | 0.0079 | 24 | c.116 others(43): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
JPH3_chr16_87597508_87703156 | 87692197 | T | TTCCCTCC others(17): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0207 | 1 | 380 | 0.0026 | 24 | c.216 others(43): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
JPH3_chr16_87597508_87703156 | 87692206 | T | TGTCTCCC others(17): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp2 others(43): Show |
a0001a0008 | a0001c0003a0001c0004a0001c0005others(9): Show | a0001c0003t0001a0001c0003t0009a0001c0003t0016others(13): Show | a0001c0003t0001g0052a0001c0003t0001g0110a0001c0003t0001g0233others(43): Show | 46 | 380 | 0.1211 | 24 | c.216 others(43): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
JRK_chr8_142652460_142674967 | 142670134 | T | TGGAGGAG others(17): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(287): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0007others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(56): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(136): Show | 290 | 466 | 0.6223 | 24 | c.-66 others(33): Show |
JRK | ENSG00000234616.9 | transcript | ENST00000612905.2 | protein_coding | 168 | chr8 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18275121 | G | GCTGGGGG others(17): Show |
downstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 408 | 0.0025 | 24 | c.*53 others(35): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 4572 | chr19 | TogoVar | ||||||
JUP_chr17_41749609_41791711 | 41753352 | A | AAAATAAA others(17): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0269a0001c0001t0005g0273 | 2 | 410 | 0.0049 | 24 | c.*23 others(35): Show |
JUP | ENSG00000173801.17 | transcript | ENST00000393931.8 | protein_coding | 1256 | chr17 | TogoVar | ||||||
JUP_chr17_41749609_41791711 | 41783538 | C | CTTCTGGA others(17): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0067 | 1 | 410 | 0.0024 | 24 | c.-9+ others(39): Show |
JUP | ENSG00000173801.17 | transcript | ENST00000393931.8 | protein_coding | 1/13 | chr17 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124054357 | T | TTAAAAAT others(17): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(62): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(40): Show | a0001c0001t0003a0001c0001t0033a0001c0002t0002others(48): Show | a0001c0001t0003g0029a0001c0001t0033g0026a0001c0002t0002g0011others(62): Show | 65 | 116 | 0.5603 | 24 | c.73+ others(41): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124286082 | C | CCTTCCTT others(17): Show |
intron_variant | MODIFIER | HG01515.hp1 NA19077.hp2 |
a0001a0004 | a0001c0018a0004c0013 | a0001c0018t0026a0004c0013t0002 | a0001c0018t0026g0073a0004c0013t0002g0002 | 2 | 116 | 0.0172 | 24 | c.970 others(43): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 5/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124439200 | T | TCACACAC others(17): Show |
intron_variant | MODIFIER | HG02965.hp1 NA18522.hp2 |
a0001a0002 | a0001c0060a0002c0053 | a0001c0060t0006a0002c0053t0004 | a0001c0060t0006g0099a0002c0053t0004g0094 | 2 | 116 | 0.0172 | 24 | c.319 others(41): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 18/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124439200 | T | TTACACAC others(17): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0035 | 1 | 116 | 0.0086 | 24 | c.319 others(41): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 18/59 | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124495978 | T | TGTATATA others(17): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 1 | 116 | 0.0086 | 24 | c.483 others(41): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 32/59 | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124495978 | T | TGTATATA others(17): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0024 | a0001c0024t0027 | a0001c0024t0027g0049 | 1 | 116 | 0.0086 | 24 | c.483 others(41): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 32/59 | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124623399 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG02129.hp1 others(11): Show |
a0001a0002a0004 | a0001c0002a0001c0004a0001c0005others(8): Show | a0001c0002t0017a0001c0004t0001a0001c0005t0001others(8): Show | a0001c0002t0017g0053a0001c0004t0001g0111a0001c0005t0001g0023others(11): Show | 14 | 116 | 0.1207 | 24 | c.518 others(43): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124642806 | G | GTTGTTTT others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18945.hp2 NA19004.hp1 |
a0001 | a0001c0022a0001c0075a0001c0078 | a0001c0022t0001a0001c0075t0003a0001c0078t0001 | a0001c0022t0001g0008a0001c0075t0003g0024a0001c0078t0001g0056 | 3 | 116 | 0.0259 | 24 | c.566 others(43): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 37/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124642806 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01168.hp2 HG01515.hp1 others(14): Show |
a0001a0004 | a0001c0002a0001c0004a0001c0005others(8): Show | a0001c0002t0002a0001c0002t0017a0001c0004t0001others(11): Show | a0001c0002t0002g0011a0001c0002t0017g0053a0001c0004t0001g0111others(14): Show | 17 | 116 | 0.1466 | 24 | c.566 others(43): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 37/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124642806 | G | GTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01496.hp2 HG02071.hp1 others(7): Show |
a0001a0003a0006 | a0001c0006a0001c0009a0001c0015others(4): Show | a0001c0006t0001a0001c0009t0001a0001c0015t0001others(4): Show | a0001c0006t0001g0013a0001c0006t0001g0069a0001c0009t0001g0065others(7): Show | 10 | 116 | 0.0862 | 24 | c.566 others(43): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 37/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124646391 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0069 | a0001c0069t0022 | a0001c0069t0022g0102 | 1 | 116 | 0.0086 | 24 | c.566 others(43): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 37/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KANK1_chr9_499695_751103 | 512249 | G | GTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0018 | a0018c0017 | a0018c0017t0001 | a0018c0017t0001g0082 | 1 | 254 | 0.0039 | 24 | c.-84 others(41): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK1_chr9_499695_751103 | 514222 | T | TCCTTCCT others(17): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02809.hp2 HG03453.hp1 others(1): Show |
a0004a0012a0016others(1): Show | a0004c0011a0012c0009a0016c0016others(1): Show | a0004c0011t0001a0012c0009t0008a0016c0016t0001others(1): Show | a0004c0011t0001g0216a0012c0009t0008g0229a0016c0016t0001g0234others(1): Show | 4 | 254 | 0.0158 | 24 | c.-84 others(41): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK1_chr9_499695_751103 | 516998 | T | TACACACA others(17): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02056.hp2 HG02071.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0004a0003c0003t0011 | a0001c0001t0003g0170a0003c0003t0004g0115a0003c0003t0011g0017 | 3 | 254 | 0.0118 | 24 | c.-84 others(43): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK1_chr9_499695_751103 | 598620 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 254 | 0.0039 | 24 | c.-83 others(43): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK3_chr19_8317584_8348262 | 8340275 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0017 | 1 | 406 | 0.0025 | 24 | c.-28 others(41): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8345713 | G | GTGTGTAT others(17): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 | a0008 | a0008c0008 | a0008c0008t0003 | a0008c0008t0003g0063 | 1 | 406 | 0.0025 | 24 | c.-25 others(35): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 2452 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8345713 | G | GTGTGTGT others(17): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0372 | 1 | 406 | 0.0025 | 24 | c.-25 others(35): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 2452 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8345713 | G | GTGTGTGT others(17): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0375 | 1 | 406 | 0.0025 | 24 | c.-25 others(35): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 2452 | chr19 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210079670 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 284 | 0.0035 | 24 | c.155 others(43): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210079704 | A | ATATATAT others(17): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 284 | 0.0035 | 24 | c.155 others(43): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 5/14 | chr2 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210162222 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 NA19087.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0007a0001c0001t0011a0003c0005t0003 | a0001c0001t0007g0269a0001c0001t0011g0212a0003c0005t0003g0019 | 3 | 284 | 0.0106 | 24 | c.-29 others(41): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTCTTT others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0215 | 1 | 321 | 0.0031 | 24 | c.129 others(43): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46096311 | C | CTTTTTTT others(17): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01496.hp2 HG02040.hp2 others(6): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0002a0006c0008t0002 | a0001c0001t0002g0118a0001c0001t0002g0119a0001c0001t0002g0129others(6): Show | 9 | 321 | 0.0280 | 24 | c.129 others(43): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46105906 | G | GAGACACA others(17): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0226 | 1 | 321 | 0.0031 | 24 | c.129 others(45): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46189031 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0003 | a0002c0003t0013 | a0002c0003t0013g0293 | 1 | 321 | 0.0031 | 24 | c.-90 others(41): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
KANSL2_chr12_48648211_48687238 | 48659359 | G | GGAGGCCA others(17): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062 | 1 | 322 | 0.0031 | 24 | c.122 others(42): Show |
KANSL2 | ENSG00000139620.13 | transcript | ENST00000420613.7 | protein_coding | 8/9 | chr12 | TogoVar | ||||||
KANSL3_chr2_96588172_96643312 | 96611903 | A | ATATATGT others(17): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 340 | 0.0029 | 24 | c.108 others(41): Show |
KANSL3 | ENSG00000114982.19 | transcript | ENST00000431828.6 | protein_coding | 9/20 | chr2 | TogoVar | ||||||
KANSL3_chr2_96588172_96643312 | 96615165 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG03225.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0119a0001c0001t0002g0181 | 2 | 340 | 0.0059 | 24 | c.664 others(41): Show |
KANSL3 | ENSG00000114982.19 | transcript | ENST00000431828.6 | protein_coding | 5/20 | chr2 | TogoVar | ||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 | 1 | 380 | 0.0026 | 24 | c.*37 others(35): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | ||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167a0001c0001t0001g0233 | 2 | 380 | 0.0053 | 24 | c.*37 others(35): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar | ||||||
KARS1_chr16_75622724_75652665 | 75624133 | A | ATATATAT others(17): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0179 | 1 | 380 | 0.0026 | 24 | c.*37 others(35): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar |