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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KALRN_chr3_124028369_124731325 | 124196898 | GTGCTATC others(8): Show |
G | intron_variant | MODIFIER | HG00642.hp1 NA20752.hp2 |
a0001 | a0001c0003a0001c0015 | a0001c0003t0029a0001c0015t0001 | a0001c0003t0029g0048 a0001c0015t0001g0046 |
2 | 116 | 0.0172 | -15 | c.74- others(32): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | chr3 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124227663 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0062 | a0001c0062t0001 | a0001c0062t0001g0098 | 1 | 116 | 0.0086 | -15 | c.74- others(28): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124618086 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01496.hp2 NA20752.hp2 |
a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0046 a0001c0015t0001g0097 |
2 | 116 | 0.0172 | -15 | c.518 others(36): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124649965 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0041 | a0001c0041t0003 | a0001c0041t0003g0108 | 1 | 116 | 0.0086 | -15 | c.566 others(32): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 37/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 598620 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02630.hp2 others(6): Show |
a0004a0006a0007others(3): Show | a0004c0005a0004c0033a0004c0034others(6): Show | a0004c0005t0001a0004c0033t0001a0004c0034t0001others(6): Show | a0004c0005t0001g0192 a0004c0033t0001g0104 a0004c0034t0001g0096 others(6): Show |
9 | 254 | 0.0354 | -15 | c.-83 others(34): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 626904 | GCTGCTAT others(8): Show |
G | intron_variant | MODIFIER | HG02738.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0182 | 1 | 254 | 0.0039 | -15 | c.-83 others(34): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8328384 | CCACCACA others(8): Show |
C | intron_variant | MODIFIER | NA18951.hp2 | a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0068 | 1 | 406 | 0.0025 | -15 | c.193 others(34): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8332816 | AAAAATAA others(8): Show |
A | intron_variant | MODIFIER | HG00673.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0365 | 1 | 406 | 0.0025 | -15 | c.193 others(32): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8336614 | GCATAATG others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00621.hp1 others(38): Show |
a0005a0008a0009others(1): Show | a0005c0005a0005c0014a0008c0008others(2): Show | a0005c0005t0003a0005c0014t0003a0008c0008t0003others(2): Show | a0005c0005t0003g0004 a0005c0005t0003g0020 a0005c0005t0003g0021 others(37): Show |
41 | 406 | 0.1010 | -15 | c.35- others(28): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 2/10 | chr19 | TogoVar | |||||||
KANK3_chr19_8317584_8348262 | 8346369 | ATATATAT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp2 NA18975.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0201 a0003c0003t0001g0317 |
2 | 406 | 0.0049 | -15 | c.-31 others(26): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3108 | chr19 | TogoVar | |||||||
KANK4_chr1_62231165_62324434 | 62270172 | GATTTGGT others(8): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01515.hp2 HG01517.hp2 others(17): Show |
a0001a0003a0008 | a0001c0008a0003c0005a0003c0014others(2): Show | a0001c0008t0001a0001c0008t0005a0003c0005t0002others(8): Show | a0001c0008t0001g0169 a0001c0008t0005g0022 a0003c0005t0002g0312 others(17): Show |
20 | 322 | 0.0621 | -15 | c.201 others(34): Show |
KANK4 | ENSG00000132854.19 | transcript | ENST00000371153.9 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210171295 | GGCCGCCG others(8): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(230): Show |
a0001a0005a0007 | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0027 a0001c0001t0001g0034 others(229): Show |
233 | 284 | 0.8204 | -15 | c.-19 others(24): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 1/15 | 16714 | chr2 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210174915 | CCTATCCT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01175.hp2 HG01192.hp2 HG01496.hp1 others(33): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0038 a0001c0001t0001g0094 a0001c0001t0001g0120 others(33): Show |
36 | 284 | 0.1268 | -15 | c.-38 others(26): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 3507 | chr2 | TogoVar | |||||||
KANSL1L_chr2_210016421_210176409 | 210174920 | CCTATTCT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0226 a0001c0001t0005g0227 |
2 | 284 | 0.0070 | -15 | c.-38 others(26): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 3512 | chr2 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46046528 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0208 | 1 | 321 | 0.0031 | -15 | c.202 others(34): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 7/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46052964 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00642.hp1 HG02145.hp2 others(2): Show |
a0001a0002 | a0001c0006a0002c0003 | a0001c0006t0004a0002c0003t0003 | a0001c0006t0004g0112 a0001c0006t0004g0190 a0002c0003t0003g0273 others(2): Show |
5 | 321 | 0.0156 | -15 | c.184 others(34): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | |||||||
KANSL1_chr17_46024916_46198429 | 46189031 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01993.hp1 HG02080.hp1 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0182 |
3 | 321 | 0.0094 | -15 | c.-90 others(32): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624127 | ATATATAT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0259 | 1 | 380 | 0.0026 | -15 | c.*37 others(26): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3596 | chr16 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75624129 | ATATATTT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0260 | 1 | 380 | 0.0026 | -15 | c.*37 others(26): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3594 | chr16 | TogoVar | |||||||
KARS1_chr16_75622724_75652665 | 75642185 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02698.hp2 HG02809.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0224 a0001c0001t0002g0031 a0001c0001t0002g0115 others(2): Show |
6 | 380 | 0.0158 | -15 | c.63- others(28): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 1/13 | chr16 | TogoVar | |||||||
KAT2B_chr3_20035446_20159404 | 20063534 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(141): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(139): Show |
144 | 374 | 0.3850 | -15 | c.304 others(32): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20106998 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 374 | 0.0027 | -15 | c.852 others(32): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | chr3 | TogoVar | |||||||
KAT2B_chr3_20035446_20159404 | 20107001 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0307 | 1 | 374 | 0.0027 | -15 | c.852 others(32): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20107003 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03195.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0005 | a0001c0001t0004g0041 a0001c0002t0005g0206 |
2 | 374 | 0.0054 | -15 | c.852 others(32): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74830756 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG03139.hp1 |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0086 a0001c0003t0002g0087 |
2 | 236 | 0.0085 | -15 | c.-32 others(34): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74830758 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 a0001c0001t0001g0059 |
2 | 236 | 0.0085 | -15 | c.-32 others(34): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74830760 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01943.hp2 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0055 |
2 | 236 | 0.0085 | -15 | c.-32 others(34): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74830764 | ATATATTT others(8): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 236 | 0.0042 | -15 | c.-32 others(34): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74987602 | GTTACATG others(8): Show |
G | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0087 | 1 | 236 | 0.0042 | -15 | c.253 others(34): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KATNA1_chr6_149589873_149653714 | 149613179 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03831.hp1 NA19088.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0083 |
3 | 296 | 0.0101 | -15 | c.502 others(32): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34151436 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02886.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 a0001c0001t0002g0028 |
2 | 344 | 0.0058 | -15 | c.438 others(32): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 4/9 | chr15 | TogoVar | |||||||
KATNBL1_chr15_34135674_34215096 | 34193221 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 | 1 | 344 | 0.0029 | -15 | c.-15 others(34): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
KATNIP_chr16_27545144_27785344 | 27597402 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 HG02615.hp2 others(5): Show |
a0004a0007 | a0004c0007a0007c0016a0007c0031 | a0004c0007t0001a0004c0007t0010a0004c0007t0012others(2): Show | a0004c0007t0001g0074 a0004c0007t0001g0075 a0004c0007t0001g0105 others(5): Show |
8 | 152 | 0.0526 | -15 | c.64- others(32): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KATNIP_chr16_27545144_27785344 | 27690348 | AGATAGAT others(8): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02970.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0005a0001c0028 | a0001c0005t0001a0001c0005t0002a0001c0028t0004 | a0001c0005t0001g0144 a0001c0005t0001g0145 a0001c0005t0001g0146 others(2): Show |
5 | 152 | 0.0329 | -15 | c.941 others(32): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KATNIP_chr16_27545144_27785344 | 27777526 | GGCTCAGA others(8): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03041.hp2 HG03195.hp1 others(1): Show |
a0004a0010 | a0004c0030a0004c0034a0010c0017 | a0004c0030t0005a0004c0034t0005a0010c0017t0005 | a0004c0030t0005g0115 a0004c0034t0005g0119 a0010c0017t0005g0150 others(1): Show |
4 | 152 | 0.0263 | -15 | c.455 others(30): Show |
KATNIP | ENSG00000047578.14 | transcript | ENST00000261588.10 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14681647 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0021 | 1 | 146 | 0.0069 | -15 | c.226 others(34): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14681649 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03492.hp1 | a0003 | a0003c0010 | a0003c0010t0002 | a0003c0010t0002g0066 | 1 | 146 | 0.0069 | -15 | c.226 others(34): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14681651 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 146 | 0.0069 | -15 | c.226 others(34): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14727450 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG02559.hp2 HG02572.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0018others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0122 a0001c0001t0002g0145 a0001c0001t0003g0088 others(15): Show |
18 | 146 | 0.1233 | -15 | c.226 others(36): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14805762 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00735.hp1 others(26): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0067 a0001c0001t0002g0006 a0001c0001t0002g0026 others(26): Show |
29 | 146 | 0.1986 | -15 | c.227 others(36): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14837026 | ATGTTGTC others(8): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 146 | 0.0069 | -15 | c.227 others(36): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14906174 | TATTATAA others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0068 a0001c0001t0002g0103 a0001c0001t0002g0129 others(26): Show |
29 | 146 | 0.1986 | -15 | c.227 others(34): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14971666 | TTTTTTTT others(8): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0143 | 1 | 146 | 0.0069 | -15 | c.418 others(34): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15032180 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01358.hp1 HG03017.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0002a0002c0002t0001a0002c0002t0007others(2): Show | a0001c0001t0002g0026 a0002c0002t0001g0083 a0002c0002t0007g0072 others(2): Show |
5 | 146 | 0.0343 | -15 | c.419 others(32): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 15050159 | GGAATAGA others(8): Show |
G | intron_variant | MODIFIER | HG00558.hp2 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0018 a0002c0002t0001g0020 |
2 | 146 | 0.0137 | -15 | c.727 others(32): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KBTBD12_chr3_127910232_127992666 | 127937172 | AAACAACA others(8): Show |
A | intron_variant | MODIFIER | HG02145.hp1 NA18522.hp2 |
a0001 | a0001c0007 | a0001c0007t0002a0001c0007t0007 | a0001c0007t0002g0057 a0001c0007t0007g0123 |
2 | 402 | 0.0050 | -15 | c.149 others(34): Show |
KBTBD12 | ENSG00000187715.13 | transcript | ENST00000405109.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KBTBD3_chr11_106046098_106082347 | 106078382 | GATTGAAG others(8): Show |
G | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0167 | 1 | 366 | 0.0027 | -15 | c.-12 others(26): Show |
KBTBD3 | ENSG00000182359.15 | transcript | ENST00000531837.2 | protein_coding | 1036 | chr11 | TogoVar | |||||||
KBTBD8_chr3_66993307_67016210 | 67012840 | ATTTTTTT others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02965.hp1 HG03579.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0001c0001t0030a0002c0002t0003 | a0001c0001t0012g0038 a0001c0001t0012g0085 a0001c0001t0012g0086 others(2): Show |
5 | 390 | 0.0128 | -15 | c.*44 others(26): Show |
KBTBD8 | ENSG00000163376.11 | transcript | ENST00000417314.2 | protein_coding | 1631 | chr3 | TogoVar | |||||||
KCMF1_chr2_84966161_85064472 | 84974685 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG02040.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0025 | a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 others(10): Show |
13 | 274 | 0.0475 | -15 | c.16+ others(30): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCMF1_chr2_84966161_85064472 | 84974687 | ATATATTT others(8): Show |
A | intron_variant | MODIFIER | HG02896.hp2 NA19058.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0070 | a0001c0001t0003g0256 a0001c0002t0070g0188 |
2 | 274 | 0.0073 | -15 | c.16+ others(30): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |