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 | 63277731 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02071.hp2 HG02109.hp2 others(12): Show |
a0001a0003a0005others(1): Show | a0001c0008a0001c0010a0003c0003others(2): Show | a0001c0008t0001a0001c0010t0001a0003c0003t0001others(2): Show | a0001c0008t0001g0299a0001c0008t0001g0301a0001c0010t0001g0307others(12): Show | 15 | 310 | 0.0484 | 9 | c.334 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63349100 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp2 HG01192.hp2 others(3): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0116a0005c0005t0001g0117a0005c0005t0001g0119others(3): Show | 6 | 310 | 0.0194 | 9 | c.333 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63466139 | A | AGGCGGCG others(2): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG02027.hp2 HG03130.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0226a0002c0002t0001g0273a0002c0002t0001g0284 | 3 | 310 | 0.0097 | 9 | c.-48 others(18): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 163 | chr10 | TogoVar | ||||||
JMJD6_chr17_76713451_76731606 | 76728412 | A | ATTTGTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 HG02818.hp1 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0031a0001c0001t0001g0032others(2): Show | 6 | 440 | 0.0136 | 9 | c.-19 others(20): Show |
JMJD6 | ENSG00000070495.15 | transcript | ENST00000397625.9 | protein_coding | 1807 | chr17 | TogoVar | ||||||
JOSD1_chr22_38680543_38705943 | 38703645 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0044a0001c0001t0002g0125a0001c0001t0002g0126others(3): Show | 6 | 376 | 0.0160 | 9 | c.-34 others(20): Show |
JOSD1 | ENSG00000100221.11 | transcript | ENST00000683374.1 | protein_coding | 2703 | chr22 | TogoVar | ||||||
JOSD2_chr19_50500998_50516191 | 50510051 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(141): Show |
a0001a0006 | a0001c0001a0001c0007a0006c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0011a0001c0001t0001g0015others(57): Show | 144 | 376 | 0.3830 | 9 | c.146 others(24): Show |
JOSD2 | ENSG00000161677.12 | transcript | ENST00000598418.6 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44134321 | A | ATAAAATA others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG02040.hp1 others(2): Show |
a0001a0002 | a0001c0006a0001c0014a0002c0002others(1): Show | a0001c0006t0021a0001c0014t0029a0002c0002t0004others(2): Show | a0001c0006t0021g0256a0001c0014t0029g0270a0002c0002t0004g0234others(2): Show | 5 | 338 | 0.0148 | 9 | c.117 others(30): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87602545 | G | GCCGCCGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG01496.hp2 HG01975.hp1 HG02015.hp1 others(7): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0006a0001c0001t0038a0001c0002t0006others(5): Show | a0001c0001t0006g0159a0001c0001t0038g0157a0001c0002t0006g0154others(7): Show | 10 | 380 | 0.0263 | 9 | c.-60 others(18): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/5 | 599 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
JPH3_chr16_87597508_87703156 | 87604287 | C | CCTGCTGC others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00735.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0027a0001c0001t0028others(10): Show | a0001c0001t0001g0033a0001c0001t0001g0034a0001c0001t0001g0036others(15): Show | 18 | 380 | 0.0474 | 9 | c.382 others(24): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
JPH3_chr16_87597508_87703156 | 87638624 | T | TGGGGAGT others(2): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03209.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0016a0001c0039 | a0001c0016t0001a0001c0039t0001 | a0001c0016t0001g0011a0001c0016t0001g0238a0001c0016t0001g0330others(1): Show | 4 | 380 | 0.0105 | 9 | c.383 others(26): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
JPT2_chr16_1673279_1707086 | 1703135 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG02965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0022 | a0001c0001t0002g0010a0001c0001t0002g0020a0001c0001t0022g0020 | 7 | 386 | 0.0181 | 9 | c.*41 others(20): Show |
JPT2 | ENSG00000206053.13 | transcript | ENST00000248098.8 | protein_coding | 1050 | chr16 | TogoVar | ||||||
JSRP1_chr19_2247252_2261417 | 2259312 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00642.hp2 others(25): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0057others(9): Show | 28 | 436 | 0.0642 | 9 | c.-29 others(20): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 2896 | chr19 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 HG02145.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0000a0001c0001t0004g0000 | 6 | 408 | 0.0147 | 9 | c.-30 others(20): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124044905 | C | CCTTCCTT others(2): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0021a0001c0008t0004g0022 | 2 | 116 | 0.0172 | 9 | c.73+ others(26): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124069311 | T | TAGGAGGA others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG03471.hp1 |
a0001 | a0001c0020a0001c0021 | a0001c0020t0008a0001c0021t0001 | a0001c0020t0008g0083a0001c0021t0001g0087 | 2 | 116 | 0.0172 | 9 | c.73+ others(26): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124294520 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02109.hp1 HG02129.hp1 others(2): Show |
a0001 | a0001c0023a0001c0025a0001c0034others(2): Show | a0001c0023t0018a0001c0025t0001a0001c0034t0001others(2): Show | a0001c0023t0018g0038a0001c0025t0001g0044a0001c0034t0001g0030others(2): Show | 5 | 116 | 0.0431 | 9 | c.970 others(26): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 5/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124404153 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02071.hp2 HG02145.hp1 others(5): Show |
a0001a0008 | a0001c0008a0001c0009a0001c0034others(3): Show | a0001c0008t0002a0001c0009t0001a0001c0034t0001others(3): Show | a0001c0008t0002g0071a0001c0009t0001g0065a0001c0009t0001g0070others(5): Show | 8 | 116 | 0.0690 | 9 | c.234 others(28): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 13/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124605584 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02055.hp2 NA18906.hp2 |
a0001 | a0001c0047a0001c0049a0001c0069 | a0001c0047t0009a0001c0049t0001a0001c0069t0022 | a0001c0047t0009g0092a0001c0049t0001g0003a0001c0069t0022g0102 | 3 | 116 | 0.0259 | 9 | c.518 others(30): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124628458 | C | CTCCTTCC others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 HG02897.hp1 |
a0001a0007 | a0001c0026a0001c0042a0007c0052 | a0001c0026t0006a0001c0042t0003a0007c0052t0008 | a0001c0026t0006g0110a0001c0042t0003g0108a0007c0052t0008g0075 | 3 | 116 | 0.0259 | 9 | c.518 others(28): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KANK1_chr9_499695_751103 | 598620 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01943.hp2 HG01978.hp2 HG02273.hp2 others(2): Show |
a0005a0008 | a0005c0004a0008c0006 | a0005c0004t0002a0005c0004t0005a0008c0006t0002 | a0005c0004t0002g0083a0005c0004t0005g0109a0005c0004t0005g0158others(2): Show | 5 | 254 | 0.0197 | 9 | c.-83 others(28): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK1_chr9_499695_751103 | 635779 | A | ACCTCTGC others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00741.hp2 others(39): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0058a0002c0002others(17): Show | a0001c0001t0004a0001c0058t0004a0002c0002t0002others(20): Show | a0001c0001t0004g0227a0001c0058t0004g0134a0002c0002t0002g0022others(39): Show | 42 | 254 | 0.1654 | 9 | c.-83 others(28): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK1_chr9_499695_751103 | 662545 | T | TTGACAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(231): Show |
a0001a0002a0003others(28): Show | a0001c0001a0001c0053a0001c0054others(54): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(78): Show | a0001c0001t0001g0015a0001c0001t0001g0027a0001c0001t0001g0040others(231): Show | 234 | 254 | 0.9213 | 9 | c.-83 others(28): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK1_chr9_499695_751103 | 691611 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01346.hp1 HG01934.hp2 others(7): Show |
a0002a0006a0012others(3): Show | a0002c0002a0006c0031a0006c0041others(4): Show | a0002c0002t0002a0002c0002t0003a0006c0031t0002others(6): Show | a0002c0002t0002g0124a0002c0002t0002g0165a0002c0002t0003g0028others(7): Show | 10 | 254 | 0.0394 | 9 | c.37+ others(26): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK3_chr19_8317584_8348262 | 8325296 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02896.hp2 HG03688.hp1 others(3): Show |
a0004a0005a0007 | a0004c0004a0005c0005a0007c0024 | a0004c0004t0002a0005c0005t0003a0007c0024t0003 | a0004c0004t0002g0307a0005c0005t0003g0062a0005c0005t0003g0066others(3): Show | 6 | 406 | 0.0148 | 9 | c.193 others(26): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8340274 | C | CGTATATA others(2): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02818.hp1 HG02886.hp1 others(10): Show |
a0004a0006 | a0004c0004a0006c0006 | a0004c0004t0002a0006c0006t0002 | a0004c0004t0002g0010a0004c0004t0002g0297a0004c0004t0002g0298others(9): Show | 13 | 406 | 0.0320 | 9 | c.-28 others(26): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 1/10 | chr19 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46059645 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02970.hp2 NA19043.hp1 |
a0002 | a0002c0003a0002c0010 | a0002c0003t0012a0002c0010t0003a0002c0010t0013 | a0002c0003t0012g0268a0002c0010t0003g0253a0002c0010t0013g0288 | 3 | 321 | 0.0094 | 9 | c.184 others(28): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46059647 | A | AAAGAGAG others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02132.hp1 HG02258.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0132a0001c0001t0002g0151a0001c0001t0002g0153others(10): Show | 13 | 321 | 0.0405 | 9 | c.184 others(28): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46059647 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG01123.hp2 others(32): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0001a0001c0001t0008a0002c0003t0003others(3): Show | a0001c0001t0001g0104a0001c0001t0001g0113a0001c0001t0001g0116others(32): Show | 35 | 321 | 0.1090 | 9 | c.184 others(28): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46135542 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01255.hp2 others(5): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024 | a0003c0004t0005g0303a0003c0004t0005g0304a0003c0004t0005g0305others(5): Show | 8 | 321 | 0.0249 | 9 | c.128 others(30): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46193356 | T | TGGCGGCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024a0003c0004t0025 | a0003c0004t0005g0301a0003c0004t0005g0302a0003c0004t0005g0303others(19): Show | 22 | 321 | 0.0685 | 9 | c.-63 others(18): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 1/15 | 21214 | chr17 | TogoVar | |||||
KASH5_chr19_49383249_49422990 | 49386790 | G | GGGGAAGG others(2): Show |
upstream_gene_variant | MODIFIER | HG00621.hp1 HG00735.hp2 HG01081.hp1 others(21): Show |
a0001a0002a0007 | a0001c0006a0002c0002a0007c0013 | a0001c0006t0001a0002c0002t0001a0007c0013t0001 | a0001c0006t0001g0015a0001c0006t0001g0079a0001c0006t0001g0141others(17): Show | 24 | 354 | 0.0678 | 9 | c.-16 others(20): Show |
KASH5 | ENSG00000161609.10 | transcript | ENST00000447857.8 | protein_coding | 1458 | chr19 | TogoVar | ||||||
KAT2B_chr3_20035446_20159404 | 20062134 | A | AACATATA others(2): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02896.hp1 HG03098.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0005t0001a0002c0003t0003 | a0001c0001t0001g0065a0001c0001t0001g0066a0001c0005t0001g0018others(2): Show | 5 | 374 | 0.0134 | 9 | c.304 others(28): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT2B_chr3_20035446_20159404 | 20149495 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02970.hp2 HG03041.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0022a0001c0001t0001g0023a0001c0001t0001g0098others(3): Show | 6 | 374 | 0.0160 | 9 | c.230 others(28): Show |
KAT2B | ENSG00000114166.8 | transcript | ENST00000263754.5 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KAT6A_chr8_41924479_42056987 | 41948901 | A | ACATCATC others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG01070.hp2 others(24): Show |
a0002a0003 | a0002c0002a0003c0006 | a0002c0002t0001a0002c0002t0015a0002c0002t0018others(5): Show | a0002c0002t0001g0008a0002c0002t0001g0009a0002c0002t0001g0013others(21): Show | 27 | 374 | 0.0722 | 9 | c.174 others(26): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 10/16 | chr8 | TogoVar | ||||||
KAT6A_chr8_41924479_42056987 | 41967274 | A | AAATTTAT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01255.hp2 HG02572.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0001t0013a0001c0001t0081others(7): Show | a0001c0001t0008g0075a0001c0001t0013g0051a0001c0001t0081g0090others(9): Show | 12 | 374 | 0.0321 | 9 | c.148 others(28): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 8/16 | chr8 | TogoVar | ||||||
KAT6A_chr8_41924479_42056987 | 42054258 | A | ATATATAT others(2): Show |
upstream_gene_variant | MODIFIER | NA18959.hp2 NA18963.hp2 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0072 | a0001c0001t0003g0050a0001c0001t0006g0025a0001c0001t0072g0076 | 3 | 374 | 0.0080 | 9 | c.-26 others(20): Show |
KAT6A | ENSG00000083168.11 | transcript | ENST00000265713.8 | protein_coding | 2272 | chr8 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74830769 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02735.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009 | a0001c0001t0003g0182a0001c0001t0009g0121 | 2 | 236 | 0.0085 | 9 | c.-32 others(28): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 1/17 | chr10 | TogoVar | ||||||
KAT6B_chr10_74821600_75037624 | 74895361 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02572.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0001a0001c0015 | a0001c0001t0002a0001c0001t0008a0001c0015t0002 | a0001c0001t0002g0083a0001c0001t0002g0095a0001c0001t0008g0072others(1): Show | 4 | 236 | 0.0170 | 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 | 74899248 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG02083.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001a0002c0002t0004 | a0001c0001t0002g0065a0002c0002t0001g0043a0002c0002t0001g0135others(5): Show | 8 | 236 | 0.0339 | 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 | C | CTTCCTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01433.hp1 others(13): Show |
a0001 | a0001c0001a0001c0010a0001c0014others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0002g0005a0001c0001t0002g0006a0001c0001t0002g0008others(13): Show | 16 | 236 | 0.0678 | 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 | 75028901 | G | GGAAGAGG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG02559.hp2 HG02615.hp1 HG02622.hp1 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0002 | a0004c0004t0001g0012a0004c0004t0001g0014a0004c0004t0001g0015others(5): Show | 8 | 236 | 0.0339 | 9 | c.409 others(18): Show |
p.Glu others(15): Show |
KAT6B | ENSG00000156650.14 | transcript | ENST00000287239.10 | protein_coding | 18/18 | 4620/8314 | 4106/6222 | 1369/2073 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |
KATNA1_chr6_149589873_149653714 | 149626292 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG02132.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002a0001c0001t0001g0027a0001c0001t0001g0034others(12): Show | 16 | 296 | 0.0541 | 9 | c.321 others(26): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 3/10 | chr6 | TogoVar | ||||||
KATNBL1_chr15_34135674_34215096 | 34137036 | G | GAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG02015.hp1 HG02074.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0038a0001c0001t0001g0043a0001c0001t0001g0104others(19): Show | 22 | 344 | 0.0640 | 9 | c.*53 others(20): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 3637 | chr15 | TogoVar | ||||||
KATNBL1_chr15_34135674_34215096 | 34184305 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00544.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0028a0001c0001t0002g0208a0001c0001t0002g0209others(31): Show | 34 | 344 | 0.0988 | 9 | c.-14 others(28): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
KATNBL1_chr15_34135674_34215096 | 34184576 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(133): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(4): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0031others(133): Show | 136 | 344 | 0.3954 | 9 | c.-14 others(28): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
KATNBL1_chr15_34135674_34215096 | 34193851 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01361.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031a0001c0001t0001g0034a0001c0001t0001g0038others(22): Show | 25 | 344 | 0.0727 | 9 | c.-15 others(28): Show |
KATNBL1 | ENSG00000134152.11 | transcript | ENST00000256544.8 | protein_coding | 1/9 | chr15 | TogoVar | ||||||
KAZN_chr1_14593685_15123043 | 14788469 | G | GCTTACAG others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02630.hp1 HG02809.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0023a0002c0002t0001 | a0001c0001t0003g0139a0001c0001t0003g0146a0001c0001t0023g0127others(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 | 14858203 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02965.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0008a0002c0002 | a0001c0003t0018a0001c0008t0009a0002c0002t0001 | a0001c0003t0018g0123a0001c0008t0009g0120a0002c0002t0001g0057others(2): Show | 5 | 146 | 0.0343 | 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 | 14905845 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01099.hp1 HG01192.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0002a0002c0002t0001a0002c0007t0001 | a0001c0001t0002g0101a0001c0001t0002g0102a0002c0002t0001g0017others(2): Show | 5 | 146 | 0.0343 | 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 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02572.hp1 HG02809.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0145a0001c0001t0003g0088a0001c0001t0003g0146others(2): Show | 5 | 146 | 0.0343 | 9 | c.227 others(28): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |