| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| KIF14_chr1_200546500_200625751 | 200548793 | C | CACACACA others(37): Show |
downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0033 | 1 | 390 | 0.0026 | 44 | c.*45 others(55): Show |
KIF14 | ENSG00000118193.12 | transcript | ENST00000367350.5 | protein_coding | 2706 | chr1 | TogoVar | ||||||
| KIF16B_chr20_16267104_16578448 | 16409982 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 | 1 | 250 | 0.0040 | 44 | c.161 others(63): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 15/25 | chr20 | TogoVar | ||||||
| KIF18B_chr17_44919711_44952773 | 44951618 | T | TATAATTC others(37): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0012 | a0012c0018 | a0012c0018t0005 | a0012c0018t0005g0039 | 1 | 406 | 0.0025 | 44 | c.-40 others(55): Show |
KIF18B | ENSG00000186185.14 | transcript | ENST00000593135.6 | protein_coding | 3846 | chr17 | TogoVar | ||||||
| KIF18B_chr17_44919711_44952773 | 44951927 | C | CTCTCTCT others(37): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0219 | 1 | 406 | 0.0025 | 44 | c.-43 others(55): Show |
KIF18B | ENSG00000186185.14 | transcript | ENST00000593135.6 | protein_coding | 4155 | chr17 | TogoVar | ||||||
| KIF18B_chr17_44919711_44952773 | 44952008 | T | TGTATATA others(37): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0091 | 1 | 406 | 0.0025 | 44 | c.-43 others(55): Show |
KIF18B | ENSG00000186185.14 | transcript | ENST00000593135.6 | protein_coding | 4236 | chr17 | TogoVar | ||||||
| KIF18B_chr17_44919711_44952773 | 44952008 | T | TGTATATA others(37): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG01891.hp2 others(33): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0004a0001c0009t0004 | a0001c0001t0001g0079a0001c0001t0001g0082a0001c0001t0001g0085others(29): Show | 36 | 406 | 0.0887 | 44 | c.-43 others(55): Show |
KIF18B | ENSG00000186185.14 | transcript | ENST00000593135.6 | protein_coding | 4236 | chr17 | TogoVar | ||||||
| KIF18B_chr17_44919711_44952773 | 44952008 | T | TGTATATA others(37): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00673.hp1 others(59): Show |
a0001a0006a0011others(1): Show | a0001c0001a0001c0006a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0016a0001c0001t0001g0041a0001c0001t0001g0042others(57): Show | 62 | 406 | 0.1527 | 44 | c.-43 others(55): Show |
KIF18B | ENSG00000186185.14 | transcript | ENST00000593135.6 | protein_coding | 4236 | chr17 | TogoVar | ||||||
| KIF23_chr15_69409349_69453425 | 69432749 | C | CTTTATTA others(37): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 328 | 0.0031 | 44 | c.111 others(63): Show |
KIF23 | ENSG00000137807.16 | transcript | ENST00000679126.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| KIF26A_chr14_104133587_104185894 | 104185845 | T | TAGAGGGG others(37): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0085 | a0001c0085t0016 | a0001c0085t0016g0016 | 1 | 374 | 0.0027 | 44 | c.*60 others(55): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 4952 | chr14 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245640143 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | HG04228.hp2 NA18522.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0040 | a0001c0002t0003g0012a0001c0004t0040g0096 | 2 | 160 | 0.0125 | 44 | c.209 others(63): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KIF26B_chr1_245149985_245714432 | 245640143 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02056.hp2 |
a0001a0005 | a0001c0001a0005c0058 | a0001c0001t0002a0005c0058t0079 | a0001c0001t0002g0062a0005c0058t0079g0043 | 2 | 160 | 0.0125 | 44 | c.209 others(63): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KIF26B_chr1_245149985_245714432 | 245640143 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01109.hp2 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0019a0001c0010t0062 | a0001c0002t0019g0144a0001c0010t0062g0038 | 2 | 160 | 0.0125 | 44 | c.209 others(63): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KIF26B_chr1_245149985_245714432 | 245640143 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18952.hp1 |
a0001a0013 | a0001c0001a0013c0036 | a0001c0001t0071a0013c0036t0011 | a0001c0001t0071g0047a0013c0036t0011g0135 | 2 | 160 | 0.0125 | 44 | c.209 others(63): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KIF26B_chr1_245149985_245714432 | 245640143 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | HG01071.hp1 NA18747.hp2 |
a0001a0006 | a0001c0002a0006c0015 | a0001c0002t0003a0006c0015t0060 | a0001c0002t0003g0015a0006c0015t0060g0004 | 2 | 160 | 0.0125 | 44 | c.209 others(63): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| KIF4A_chrX_70285104_70425886 | 70373546 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 259 | 0.0039 | 44 | c.167 others(61): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 15/30 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| KIF6_chr6_39324990_39730408 | 39346132 | C | CCTCTCTC others(37): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0110 | 1 | 174 | 0.0058 | 44 | c.223 others(61): Show |
KIF6 | ENSG00000164627.18 | transcript | ENST00000287152.12 | protein_coding | 20/22 | chr6 | TogoVar | ||||||
| KIF7_chr15_89622977_89660467 | 89653446 | A | AAGTCAAC others(37): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0144 | 1 | 390 | 0.0026 | 44 | c.-24 others(59): Show |
KIF7 | ENSG00000166813.17 | transcript | ENST00000394412.8 | protein_coding | 1/18 | chr15 | TogoVar | ||||||
| KIFAP3_chr1_169916329_170079695 | 169973105 | G | GTGTATAT others(37): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02132.hp2 HG03927.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008a0001c0001t0001g0014a0001c0001t0001g0020others(3): Show | 6 | 372 | 0.0161 | 44 | c.189 others(61): Show |
KIFAP3 | ENSG00000075945.13 | transcript | ENST00000361580.7 | protein_coding | 16/19 | chr1 | TogoVar | ||||||
| KIRREL3_chr11_126418358_127005770 | 126821347 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0060 | 1 | 114 | 0.0088 | 44 | c.55+ others(63): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
| KIRREL3_chr11_126418358_127005770 | 126821351 | A | ATATATAT others(37): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0003 | a0003c0006 | a0003c0006t0005 | a0003c0006t0005g0014 | 1 | 114 | 0.0088 | 44 | c.55+ others(63): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
| KISS1_chr1_204185341_204201491 | 204200299 | G | GTGTGTGT others(37): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0091 | 1 | 400 | 0.0025 | 44 | c.-39 others(55): Show |
KISS1 | ENSG00000170498.10 | transcript | ENST00000367194.5 | protein_coding | 3809 | chr1 | TogoVar | ||||||
| KLF12_chr13_73681089_74139404 | 73738096 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0064 | 1 | 120 | 0.0083 | 44 | c.870 others(63): Show |
KLF12 | ENSG00000118922.19 | transcript | ENST00000703967.1 | protein_coding | 6/7 | chr13 | TogoVar | ||||||
| KLF9_chr9_70379604_70419657 | 70409196 | A | ATGTATAT others(37): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG02129.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0020others(3): Show | a0001c0001t0003g0019a0001c0001t0003g0020a0001c0001t0003g0038others(22): Show | 31 | 400 | 0.0775 | 44 | c.505 others(61): Show |
KLF9 | ENSG00000119138.5 | transcript | ENST00000377126.4 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
| KLHDC1_chr14_49688120_49758150 | 49754069 | A | AAAAAAAA others(37): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 208 | 0.0048 | 44 | c.*22 others(55): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 920 | chr14 | TogoVar | ||||||
| KLHDC1_chr14_49688120_49758150 | 49754069 | A | AAAAAAAA others(37): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG02109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0106a0001c0001t0004g0138 | 2 | 208 | 0.0096 | 44 | c.*22 others(55): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 920 | chr14 | TogoVar | ||||||
| KLHDC1_chr14_49688120_49758150 | 49754069 | A | AAAATATA others(37): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 208 | 0.0048 | 44 | c.*22 others(55): Show |
KLHDC1 | ENSG00000197776.8 | transcript | ENST00000359332.7 | protein_coding | 920 | chr14 | TogoVar | ||||||
| KLHL1_chr13_69695597_70113452 | 69837655 | T | TACATATA others(37): Show |
intron_variant | MODIFIER | HG02970.hp2 NA19043.hp2 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0006 | a0001c0003t0002g0093a0001c0003t0006g0044 | 2 | 182 | 0.0110 | 44 | c.141 others(63): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 6/10 | chr13 | TogoVar | ||||||
| KLHL1_chr13_69695597_70113452 | 69939340 | C | CATATATA others(37): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0155 | 1 | 182 | 0.0055 | 44 | c.101 others(61): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 4/10 | chr13 | TogoVar | ||||||
| KLHL1_chr13_69695597_70113452 | 70024620 | T | TTCTCTCT others(37): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 | 1 | 182 | 0.0055 | 44 | c.498 others(63): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
| KLHL1_chr13_69695597_70113452 | 70024620 | T | TTCTCTCT others(37): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 182 | 0.0055 | 44 | c.498 others(63): Show |
KLHL1 | ENSG00000150361.12 | transcript | ENST00000377844.9 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
| KLHL28_chr14_44919324_44966947 | 44935890 | G | GTATATAT others(37): Show |
intron_variant | MODIFIER | HG03471.hp2 NA19060.hp2 NA19091.hp2 |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0006a0001c0001t0014a0006c0008t0037 | a0001c0001t0006g0136a0001c0001t0014g0087a0006c0008t0037g0043 | 3 | 224 | 0.0134 | 44 | c.900 others(61): Show |
KLHL28 | ENSG00000179454.14 | transcript | ENST00000396128.9 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
| KLHL28_chr14_44919324_44966947 | 44935890 | G | GTGTATAT others(37): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0116 | 1 | 224 | 0.0045 | 44 | c.900 others(61): Show |
KLHL28 | ENSG00000179454.14 | transcript | ENST00000396128.9 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
| KLHL29_chr2_23380179_23713606 | 23673236 | A | ACCCACAC others(37): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0102 | 1 | 160 | 0.0063 | 44 | c.941 others(63): Show |
KLHL29 | ENSG00000119771.15 | transcript | ENST00000486442.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| KLHL30_chr2_238133668_238157947 | 238144369 | C | CGGAAGGA others(37): Show |
intron_variant | MODIFIER | NA18963.hp2 NA19089.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0207a0002c0002t0002g0208 | 2 | 450 | 0.0044 | 44 | c.908 others(59): Show |
KLHL30 | ENSG00000168427.9 | transcript | ENST00000409223.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| KLHL30_chr2_238133668_238157947 | 238144432 | A | AATGAAGG others(37): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0022 | a0001c0022t0008 | a0001c0022t0008g0104 | 1 | 450 | 0.0022 | 44 | c.908 others(59): Show |
KLHL30 | ENSG00000168427.9 | transcript | ENST00000409223.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| KLHL30_chr2_238133668_238157947 | 238149358 | C | CGCAGGCT others(37): Show |
intron_variant | MODIFIER | HG00323.hp1 NA18962.hp1 NA18964.hp1 others(1): Show |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0002a0003c0004t0003 | a0002c0002t0002g0198a0002c0002t0002g0234a0002c0002t0002g0238others(1): Show | 4 | 450 | 0.0089 | 44 | c.148 others(61): Show |
KLHL30 | ENSG00000168427.9 | transcript | ENST00000409223.2 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| KLHL41_chr2_169504702_169531258 | 169530072 | G | GCCCCCCC others(37): Show |
downstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 422 | 0.0024 | 44 | c.*43 others(55): Show |
KLHL41 | ENSG00000239474.7 | transcript | ENST00000284669.2 | protein_coding | 3815 | chr2 | TogoVar | ||||||
| KLRB1_chr12_9589551_9612916 | 9607325 | C | CTTCTTTT others(37): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 436 | 0.0023 | 44 | c.85+ others(57): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
| KLRB1_chr12_9589551_9612916 | 9607335 | C | CCTTCCTT others(37): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 436 | 0.0023 | 44 | c.85+ others(57): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
| KLRB1_chr12_9589551_9612916 | 9607335 | C | CCTTCCTT others(37): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0145 | 1 | 436 | 0.0023 | 44 | c.85+ others(57): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
| KLRB1_chr12_9589551_9612916 | 9607335 | C | CCTTCCTT others(37): Show |
intron_variant | MODIFIER | HG00438.hp1 NA19240.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0091a0002c0002t0001g0139 | 2 | 436 | 0.0046 | 44 | c.85+ others(57): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
| KLRB1_chr12_9589551_9612916 | 9607335 | C | CCTTTCTT others(37): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02922.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0188a0002c0002t0001g0049 | 2 | 436 | 0.0046 | 44 | c.85+ others(57): Show |
KLRB1 | ENSG00000111796.4 | transcript | ENST00000229402.4 | protein_coding | 1/5 | chr12 | TogoVar | ||||||
| KMT2C_chr7_152129925_152441003 | 152215688 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0167 | 1 | 172 | 0.0058 | 44 | c.371 others(63): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 23/58 | chr7 | TogoVar | ||||||
| KMT2C_chr7_152129925_152441003 | 152215688 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0075 | 1 | 172 | 0.0058 | 44 | c.371 others(63): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 23/58 | chr7 | TogoVar | ||||||
| KMT2C_chr7_152129925_152441003 | 152297039 | A | AAGAAAGA others(37): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0050 | 1 | 172 | 0.0058 | 44 | c.849 others(63): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | ||||||
| KMT2C_chr7_152129925_152441003 | 152307254 | G | GAAGGAAG others(37): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0083 | 1 | 172 | 0.0058 | 44 | c.849 others(61): Show |
KMT2C | ENSG00000055609.21 | transcript | ENST00000262189.11 | protein_coding | 6/58 | chr7 | TogoVar | ||||||
| KNTC1_chr12_122522249_122631396 | 122541287 | G | GCCTGCCT others(37): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0008 | a0008c0012 | a0008c0012t0001 | a0008c0012t0001g0125 | 1 | 320 | 0.0031 | 44 | c.446 others(59): Show |
KNTC1 | ENSG00000184445.12 | transcript | ENST00000333479.12 | protein_coding | 5/63 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| KNTC1_chr12_122522249_122631396 | 122541287 | G | GCCTGCCT others(37): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0276 | 1 | 320 | 0.0031 | 44 | c.446 others(59): Show |
KNTC1 | ENSG00000184445.12 | transcript | ENST00000333479.12 | protein_coding | 5/63 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| KPNA7_chr7_99168572_99213115 | 99181085 | C | CTCTCTCT others(37): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00738.hp1 HG02080.hp1 others(4): Show |
a0001a0003 | a0001c0004a0003c0008 | a0001c0004t0001a0001c0004t0003a0003c0008t0001 | a0001c0004t0001g0032a0001c0004t0001g0302a0001c0004t0001g0309others(4): Show | 7 | 334 | 0.0210 | 44 | c.131 others(61): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 9/10 | chr7 | TogoVar | ||||||
| KPNA7_chr7_99168572_99213115 | 99181096 | C | CGTCTGTG others(37): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 334 | 0.0030 | 44 | c.131 others(61): Show |
KPNA7 | ENSG00000185467.8 | transcript | ENST00000327442.7 | protein_coding | 9/10 | chr7 | TogoVar |