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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KAT6B_chr10_74821600_75037624 | 74830758 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | NA18960.hp1 NA18979.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0067 a0001c0005t0002g0068 |
2 | 204 | 0.0098 | -25 | c.-32 others(44): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74947673 | AGTTTACC others(18): Show |
A | intron_variant | MODIFIER | HG03669.hp2 HG03942.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 |
3 | 234 | 0.0128 | -25 | c.622 others(44): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14727450 | CTTTTTTT others(18): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00642.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0002g0060 a0001c0001t0002g0144 a0001c0001t0003g0005 others(12): Show |
15 | 18 | 0.8333 | -25 | c.226 others(46): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KCMF1_chr2_84966161_85064472 | 84974675 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG03130.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0243 a0001c0001t0015g0244 a0001c0001t0015g0245 |
3 | 268 | 0.0112 | -25 | c.16+ others(40): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCMF1_chr2_84966161_85064472 | 84974677 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0015 | 1 | 263 | 0.0038 | -25 | c.16+ others(40): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCMF1_chr2_84966161_85064472 | 84993902 | TTTTTGTT others(18): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0089 a0001c0001t0002g0044 a0001c0001t0003g0194 others(54): Show |
57 | 70 | 0.8143 | -25 | c.16+ others(42): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KCNB1_chr20_49358877_49487668 | 49482838 | TGGAGGGA others(18): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01099.hp2 |
a0002 | a0002c0003 | a0002c0003t0026 | a0002c0003t0026g0218 a0002c0003t0026g0219 |
2 | 276 | 0.0072 | -25 | c.-38 others(34): Show |
KCNB1 | ENSG00000158445.10 | transcript | ENST00000371741.6 | protein_coding | 171 | chr20 | TogoVar | |||||||
KCNC2_chr12_75035078_75214839 | 75191515 | ATTATTAT others(18): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0304 | 1 | 301 | 0.0033 | -25 | c.687 others(44): Show |
KCNC2 | ENSG00000166006.14 | transcript | ENST00000549446.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
KCND2_chr7_120268175_120755337 | 120400578 | ATAAAGTA others(18): Show |
A | intron_variant | MODIFIER | HG01891.hp2 NA18906.hp2 NA19240.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0011a0001c0001t0023a0002c0003t0011 | a0001c0001t0011g0033 a0001c0001t0023g0011 a0002c0003t0011g0034 |
3 | 78 | 0.0385 | -25 | c.111 others(48): Show |
KCND2 | ENSG00000184408.10 | transcript | ENST00000331113.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KCNF1_chr2_10906934_10919225 | 10908754 | ATGGACTT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02486.hp2 NA20129.hp1 |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0000 a0001c0002t0001g0000 a0001c0005t0001g0000 |
3 | 434 | 0.0069 | -25 | c.-36 others(36): Show |
KCNF1 | ENSG00000162975.5 | transcript | ENST00000295082.3 | protein_coding | 3179 | chr2 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79829516 | CGTCTCTG others(18): Show |
C | intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 310 | 0.0032 | -25 | c.-11 others(46): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KCNH1_chr1_210673314_211139148 | 210690211 | TGTCTAGA others(18): Show |
T | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0159 | 1 | 162 | 0.0062 | -25 | c.211 others(44): Show |
KCNH1 | ENSG00000143473.14 | transcript | ENST00000271751.10 | protein_coding | 10/10 | chr1 | TogoVar | |||||||
KCNH3_chr12_49534030_49563337 | 49547006 | TGCCTCAG others(18): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02976.hp1 others(4): Show |
a0001a0006 | a0001c0001a0001c0008a0006c0020 | a0001c0001t0005a0001c0008t0001a0006c0020t0001 | a0001c0001t0005g0102 a0001c0008t0001g0047 a0001c0008t0001g0048 others(4): Show |
7 | 262 | 0.0267 | -25 | c.119 others(44): Show |
KCNH3 | ENSG00000135519.8 | transcript | ENST00000257981.7 | protein_coding | 7/14 | chr12 | TogoVar | |||||||
KCNH8_chr3_19143510_19540642 | 19308700 | CTCTCTCT others(18): Show |
C | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0131 | 1 | 131 | 0.0076 | -25 | c.442 others(44): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 3/15 | chr3 | TogoVar | |||||||
KCNIP2_chr10_101820974_101848800 | 101830971 | TGCGCACA others(18): Show |
T | intron_variant | MODIFIER | HG03669.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0123 |
2 | 380 | 0.0053 | -25 | c.169 others(39): Show |
KCNIP2 | ENSG00000120049.20 | transcript | ENST00000356640.7 | protein_coding | 2/9 | chr10 | TogoVar | |||||||
KCNIP3_chr2_95292347_95391077 | 95324460 | GCGAGATT others(18): Show |
G | intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 296 | 0.0034 | -25 | c.181 others(44): Show |
KCNIP3 | ENSG00000115041.14 | transcript | ENST00000295225.10 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234077 | CATATAAC others(18): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0038 a0001c0001t0014g0077 |
2 | 47 | 0.0426 | -25 | c.62- others(44): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21234476 | GTACATAT others(18): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0006 | a0001c0001t0001g0022 a0001c0001t0001g0056 a0001c0001t0003g0030 others(1): Show |
4 | 48 | 0.0833 | -25 | c.62- others(44): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21291866 | AAAAAGAA others(18): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG02109.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(2): Show | a0001c0001t0001g0060 a0001c0001t0002g0015 a0001c0001t0015g0023 others(2): Show |
5 | 72 | 0.0694 | -25 | c.62- others(44): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21313214 | ATTTTTAG others(18): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02056.hp1 NA18948.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0008 | a0001c0001t0001g0044 a0001c0001t0004g0043 a0001c0002t0008g0047 |
3 | 80 | 0.0375 | -25 | c.62- others(44): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNIP4_chr4_20723606_21953772 | 21519715 | TATATACA others(18): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG03239.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0004 | a0001c0001t0003g0030 a0001c0002t0004g0048 |
2 | 80 | 0.0250 | -25 | c.61+ others(44): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNJ4_chr22_38421327_38460199 | 38446541 | TCTGGAAA others(18): Show |
T | intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0113 | 1 | 378 | 0.0026 | -25 | c.-40 others(42): Show |
KCNJ4 | ENSG00000168135.4 | transcript | ENST00000303592.3 | protein_coding | 1/1 | chr22 | TogoVar | |||||||
KCNJ6_chr21_37602373_37921457 | 37617028 | CTTTCTTT others(18): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0118 | 1 | 167 | 0.0060 | -25 | c.*81 others(36): Show |
KCNJ6 | ENSG00000157542.11 | transcript | ENST00000609713.2 | protein_coding | 4/4 | 8106 | chr21 | TogoVar | ||||||
KCNK10_chr14_88175108_88328269 | 88203192 | CTGTATAT others(18): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0112 | a0001c0001t0031g0037 a0001c0001t0112g0221 |
2 | 332 | 0.0060 | -25 | c.682 others(44): Show |
KCNK10 | ENSG00000100433.16 | transcript | ENST00000319231.10 | protein_coding | 4/6 | chr14 | TogoVar | |||||||
KCNK13_chr14_90056994_90190853 | 90183976 | CATTCCTA others(18): Show |
C | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0080 | 1 | 318 | 0.0031 | -25 | c.335 others(40): Show |
KCNK13 | ENSG00000152315.5 | transcript | ENST00000282146.5 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
KCNK17_chr6_39294001_39319419 | 39297462 | TTGTGGCC others(18): Show |
T | downstream_gene_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0118 | 1 | 452 | 0.0022 | -25 | c.*19 others(36): Show |
KCNK17 | ENSG00000124780.14 | transcript | ENST00000373231.9 | protein_coding | 1538 | chr6 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77439087 | AAAGAGAA others(18): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0096 | 1 | 39 | 0.0256 | -25 | c.379 others(44): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77573627 | GGAATGGA others(18): Show |
G | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0105 | 1 | 102 | 0.0098 | -25 | c.378 others(44): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77573632 | GGAATGGA others(18): Show |
G | intron_variant | MODIFIER | HG01258.hp1 HG02486.hp2 HG02615.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0007a0001c0002t0001 | a0001c0001t0005g0072 a0001c0001t0007g0025 a0001c0002t0001g0002 others(2): Show |
5 | 83 | 0.0602 | -25 | c.378 others(44): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77573637 | GGAATGGA others(18): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01071.hp1 HG01099.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0011 a0001c0001t0001g0071 a0001c0001t0002g0012 others(13): Show |
16 | 86 | 0.1860 | -25 | c.378 others(44): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMA1_chr10_76879882_77642808 | 77573642 | GGAATAGA others(18): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01168.hp2 HG01346.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0069 a0001c0002t0001g0055 a0001c0002t0002g0047 others(2): Show |
5 | 80 | 0.0625 | -25 | c.378 others(44): Show |
KCNMA1 | ENSG00000156113.25 | transcript | ENST00000286628.14 | protein_coding | 1/27 | chr10 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178759064 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 225 | 0.0044 | -25 | c.-67 others(44): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNN4_chr19_43761533_43785973 | 43772208 | ATACCCTC others(18): Show |
A | intron_variant | MODIFIER | NA18948.hp1 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 a0001c0001t0002g0320 |
2 | 438 | 0.0046 | -25 | c.684 others(38): Show |
KCNN4 | ENSG00000104783.15 | transcript | ENST00000648319.1 | protein_coding | 3/8 | chr19 | TogoVar | |||||||
KCNQ1_chr11_2440008_2854105 | 2608677 | TATTCTTG others(18): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG02622.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0014 a0001c0001t0001g0147 a0001c0001t0004g0143 |
3 | 206 | 0.0146 | -25 | c.139 others(46): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2608683 | TGAACTCC others(18): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02630.hp1 others(14): Show |
a0001a0004a0007 | a0001c0001a0001c0005a0004c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0042 a0001c0001t0001g0138 a0001c0001t0001g0150 others(14): Show |
17 | 206 | 0.0825 | -25 | c.139 others(46): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2653455 | CACACAGC others(18): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0131 | 1 | 206 | 0.0049 | -25 | c.139 others(44): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNQ1_chr11_2440008_2854105 | 2699415 | GCCGCGCT others(18): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG02809.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0033 a0001c0001t0004g0194 a0001c0001t0005g0022 others(1): Show |
4 | 206 | 0.0194 | -25 | c.151 others(46): Show |
KCNQ1 | ENSG00000053918.19 | transcript | ENST00000155840.12 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
KCNRG_chr13_50010444_50025922 | 50015087 | AAAAAAAA others(18): Show |
A | upstream_gene_variant | MODIFIER | NA18966.hp1 NA18981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 432 | 0.0046 | -25 | c.-40 others(34): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 356 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50015089 | AAAAAAAT others(18): Show |
A | upstream_gene_variant | MODIFIER | NA18943.hp1 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 419 | 0.0048 | -25 | c.-40 others(34): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 354 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50015091 | AAAAATAT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 422 | 0.0047 | -25 | c.-40 others(34): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 352 | chr13 | TogoVar | |||||||
KCNRG_chr13_50010444_50025922 | 50015093 | AAATATAT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01358.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 4 | 304 | 0.0132 | -25 | c.-40 others(34): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 350 | chr13 | TogoVar | |||||||
KCNT1_chr9_135697185_135800502 | 135768247 | GGGGGGGG others(18): Show |
G | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0218 | 1 | 270 | 0.0037 | -25 | c.133 others(42): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 13/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNT1_chr9_135697185_135800502 | 135775757 | AGGACAGG others(18): Show |
A | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 270 | 0.0037 | -25 | c.234 others(42): Show |
KCNT1 | ENSG00000107147.14 | transcript | ENST00000371757.7 | protein_coding | 20/30 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNV2_chr9_2712510_2735037 | 2722575 | ATTTATAA others(18): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 440 | 0.0023 | -25 | c.135 others(44): Show |
KCNV2 | ENSG00000168263.9 | transcript | ENST00000382082.4 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
KCTD14_chr11_78010715_78028276 | 78019524 | CCAGGCTG others(18): Show |
C | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 466 | 0.0021 | -25 | c.91- others(40): Show |
KCTD14 | ENSG00000151364.17 | transcript | ENST00000353172.6 | protein_coding | 1/1 | chr11 | TogoVar | |||||||
KCTD16_chr5_144165873_144490686 | 144243187 | CTTATTAC others(18): Show |
C | intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0073 | 1 | 156 | 0.0064 | -25 | c.832 others(44): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCTD16_chr5_144165873_144490686 | 144299124 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 138 | 0.0072 | -25 | c.832 others(44): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCTD16_chr5_144165873_144490686 | 144357099 | TTACTCTT others(18): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00733.hp2 others(39): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0019 a0001c0001t0001g0038 a0001c0001t0001g0054 others(39): Show |
42 | 156 | 0.2692 | -25 | c.833 others(46): Show |
KCTD16 | ENSG00000183775.11 | transcript | ENST00000512467.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44181176 | TGGTCTCC others(18): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG01123.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0045 others(5): Show |
8 | 188 | 0.0426 | -25 | c.962 others(42): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | |||||||
KHDC4_chr1_155908045_155939413 | 155927833 | CACACACA others(18): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG03017.hp1 NA19002.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0133 a0001c0001t0001g0151 others(1): Show |
4 | 217 | 0.0184 | -25 | c.465 others(40): Show |
KHDC4 | ENSG00000132680.11 | transcript | ENST00000368321.8 | protein_coding | 4/13 | chr1 | TogoVar |