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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENPP2_chr8_119552086_119643839 | 119605465 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02300.hp1 NA18942.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0081 a0001c0001t0001g0230 a0001c0001t0001g0233 others(4): Show |
8 | 340 | 0.0235 | 13 | c.833 others(30): Show |
ENPP2 | ENSG00000136960.13 | transcript | ENST00000075322.11 | protein_coding | 9/24 | chr8 | TogoVar | |||||||
ENPP3_chr6_131632302_131752410 | 131641799 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG04199.hp2 NA18964.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 a0001c0002t0001g0038 |
2 | 278 | 0.0072 | 13 | c.154 others(28): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP3_chr6_131632302_131752410 | 131699235 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0148 | 1 | 278 | 0.0036 | 13 | c.141 others(32): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP3_chr6_131632302_131752410 | 131724226 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG02976.hp1 others(4): Show |
a0001a0010a0012 | a0001c0002a0001c0024a0010c0011others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0024t0001others(2): Show | a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0021 others(4): Show |
7 | 278 | 0.0252 | 13 | c.179 others(30): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ENPP6_chr4_184083706_184222873 | 184131201 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0130 | 1 | 320 | 0.0031 | 13 | c.422 others(30): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
ENPP6_chr4_184083706_184222873 | 184131259 | T | TTTCTCTT others(6): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0066 | 1 | 320 | 0.0031 | 13 | c.422 others(30): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
ENPP6_chr4_184083706_184222873 | 184208017 | G | GTTTTAAC others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(112): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0003a0001c0005others(6): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0012others(18): Show | a0001c0002t0001g0151 a0001c0002t0001g0159 a0001c0002t0001g0178 others(112): Show |
115 | 320 | 0.3594 | 13 | c.241 others(30): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 1/7 | chr4 | TogoVar | |||||||
ENPP6_chr4_184083706_184222873 | 184221380 | G | GCTTATAA others(6): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0095 | 1 | 320 | 0.0031 | 13 | c.-35 others(24): Show |
ENPP6 | ENSG00000164303.11 | transcript | ENST00000296741.7 | protein_coding | 3508 | chr4 | TogoVar | |||||||
ENPP7_chr17_79725943_79747219 | 79746243 | A | AAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 430 | 0.0023 | 13 | c.*44 others(24): Show |
ENPP7 | ENSG00000182156.10 | transcript | ENST00000328313.10 | protein_coding | 4025 | chr17 | TogoVar | |||||||
ENTHD1_chr22_39738044_39898760 | 39766019 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0204 | 1 | 218 | 0.0046 | 13 | c.833 others(28): Show |
ENTHD1 | ENSG00000176177.10 | transcript | ENST00000325157.7 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
ENTHD1_chr22_39738044_39898760 | 39814295 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0019 | 1 | 218 | 0.0046 | 13 | c.832 others(30): Show |
ENTHD1 | ENSG00000176177.10 | transcript | ENST00000325157.7 | protein_coding | 5/6 | chr22 | TogoVar | |||||||
ENTPD1_chr10_95751163_95882266 | 95760814 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0134 | 1 | 340 | 0.0029 | 13 | c.16+ others(28): Show |
ENTPD1 | ENSG00000138185.20 | transcript | ENST00000371205.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137053155 | T | TGCACCGC others(6): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18951.hp1 NA19066.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0166 |
4 | 400 | 0.0100 | 13 | c.117 others(28): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 1/8 | chr9 | TogoVar | |||||||
ENTPD3_chr3_40382184_40433744 | 40397119 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02630.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0016 a0001c0004t0002g0043 a0001c0004t0002g0044 |
4 | 374 | 0.0107 | 13 | c.169 others(30): Show |
ENTPD3 | ENSG00000168032.10 | transcript | ENST00000301825.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ENTPD4_chr8_23424162_23462647 | 23427124 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00558.hp1 others(27): Show |
a0001a0002a0011 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0110 a0001c0001t0008g0011 others(13): Show |
30 | 412 | 0.0728 | 13 | c.*57 others(24): Show |
ENTPD4 | ENSG00000197217.13 | transcript | ENST00000358689.9 | protein_coding | 2037 | chr8 | TogoVar | |||||||
ENTPD5_chr14_73958230_74024288 | 74005364 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02922.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0005 | a0001c0001t0011g0132 a0001c0002t0005g0031 |
2 | 380 | 0.0053 | 13 | c.-71 others(30): Show |
ENTPD5 | ENSG00000187097.13 | transcript | ENST00000334696.11 | protein_coding | 3/15 | chr14 | TogoVar | |||||||
ENTPD7_chr10_99654509_99716241 | 99692031 | C | CATTATGT others(6): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0323 | 1 | 408 | 0.0025 | 13 | c.843 others(28): Show |
ENTPD7 | ENSG00000198018.7 | transcript | ENST00000370489.5 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29138581 | A | ATATGTTA others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0007 | a0007c0022 | a0007c0022t0017 | a0007c0022t0017g0043 | 1 | 125 | 0.0080 | 13 | c.631 others(30): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 5/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29219614 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0004 | a0002c0004t0048 | a0002c0004t0048g0122 | 1 | 125 | 0.0080 | 13 | c.388 others(32): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 3/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29264154 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01071.hp1 others(21): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0008others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(18): Show | a0001c0001t0001g0069 a0001c0002t0001g0054 a0001c0002t0001g0055 others(21): Show |
24 | 125 | 0.1920 | 13 | c.277 others(32): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29371349 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01169.hp2 others(2): Show |
a0001a0002a0004 | a0001c0002a0002c0005a0002c0021others(1): Show | a0001c0002t0001a0002c0005t0020a0002c0005t0026others(2): Show | a0001c0002t0001g0055 a0002c0005t0020g0028 a0002c0005t0026g0011 others(2): Show |
5 | 125 | 0.0400 | 13 | c.276 others(32): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 2/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29478019 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 125 | 0.0080 | 13 | c.219 others(32): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29493125 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0111 | 1 | 125 | 0.0080 | 13 | c.219 others(32): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
ENTREP3_chr1_155242205_155260483 | 155252722 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18964.hp2 NA18988.hp2 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0010 | a0001c0001t0001g0139 a0003c0002t0010g0140 |
2 | 395 | 0.0051 | 13 | c.622 others(28): Show |
ENTREP3 | ENSG00000160767.23 | transcript | ENST00000361361.7 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
ENTREP3_chr1_155242205_155260483 | 155252722 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 2 | 395 | 0.0051 | 13 | c.622 others(28): Show |
ENTREP3 | ENSG00000160767.23 | transcript | ENST00000361361.7 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
ENTREP3_chr1_155242205_155260483 | 155252722 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02818.hp1 HG04228.hp2 |
a0001a0009 | a0001c0001a0009c0009 | a0001c0001t0001a0009c0009t0013 | a0001c0001t0001g0115 a0001c0001t0001g0116 a0009c0009t0013g0100 |
3 | 395 | 0.0076 | 13 | c.622 others(28): Show |
ENTREP3 | ENSG00000160767.23 | transcript | ENST00000361361.7 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
ENTREP3_chr1_155242205_155260483 | 155252722 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0236 |
2 | 395 | 0.0051 | 13 | c.622 others(28): Show |
ENTREP3 | ENSG00000160767.23 | transcript | ENST00000361361.7 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
ENTREP3_chr1_155242205_155260483 | 155252723 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG02135.hp1 others(4): Show |
a0001a0003a0005 | a0001c0001a0003c0002a0005c0005 | a0001c0001t0001a0003c0002t0001a0005c0005t0001 | a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0192 others(4): Show |
7 | 395 | 0.0177 | 13 | c.622 others(28): Show |
ENTREP3 | ENSG00000160767.23 | transcript | ENST00000361361.7 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
EOGT_chr3_68970225_69018684 | 69007507 | C | CGGGGGGG others(6): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01255.hp2 HG01257.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0021others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(6): Show | a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 others(14): Show |
17 | 444 | 0.0383 | 13 | c.420 others(28): Show |
EOGT | ENSG00000163378.14 | transcript | ENST00000383701.8 | protein_coding | 6/17 | chr3 | TogoVar | |||||||
EOMES_chr3_27710953_27727323 | 27711316 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | NA19056.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0013 | 1 | 400 | 0.0025 | 13 | c.*57 others(24): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 4636 | chr3 | TogoVar | |||||||
EOMES_chr3_27710953_27727323 | 27711316 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 HG03209.hp2 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0011 | 2 | 400 | 0.0050 | 13 | c.*57 others(24): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 4636 | chr3 | TogoVar | |||||||
EOMES_chr3_27710953_27727323 | 27711316 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 HG02451.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0003t0003 | a0002c0002t0002g0012 a0002c0003t0003g0011 |
2 | 400 | 0.0050 | 13 | c.*57 others(24): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 4636 | chr3 | TogoVar | |||||||
EOMES_chr3_27710953_27727323 | 27711316 | A | ATATATTT others(6): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 NA19001.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 | 2 | 400 | 0.0050 | 13 | c.*57 others(24): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 4636 | chr3 | TogoVar | |||||||
EOMES_chr3_27710953_27727323 | 27711317 | T | TATATATA others(6): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA19064.hp2 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0002a0002c0003t0003 | a0002c0002t0002g0022 a0002c0003t0003g0011 |
3 | 400 | 0.0075 | 13 | c.*57 others(24): Show |
EOMES | ENSG00000163508.13 | transcript | ENST00000449599.4 | protein_coding | 4635 | chr3 | TogoVar | |||||||
EP300_chr22_41087592_41185077 | 41089698 | C | CTTTTTTT others(6): Show |
upstream_gene_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0006a0001c0032 | a0001c0006t0003a0001c0006t0007a0001c0032t0042 | a0001c0006t0003g0044 a0001c0006t0007g0045 a0001c0006t0007g0048 others(1): Show |
4 | 300 | 0.0133 | 13 | c.-33 others(24): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 2893 | chr22 | TogoVar | |||||||
EP300_chr22_41087592_41185077 | 41110282 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0003 | 1 | 300 | 0.0033 | 13 | c.95- others(28): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EP300_chr22_41087592_41185077 | 41114039 | A | AATTGCAA others(6): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0018 | 1 | 300 | 0.0033 | 13 | c.95- others(28): Show |
EP300 | ENSG00000100393.15 | transcript | ENST00000263253.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 132073459 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0003 | a0003c0009 | a0003c0009t0004 | a0003c0009t0004g0078 | 1 | 208 | 0.0048 | 13 | c.902 others(32): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 51/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 132083498 | C | CAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 NA18522.hp2 |
a0004a0005 | a0004c0047a0005c0067 | a0004c0047t0001a0005c0067t0001 | a0004c0047t0001g0070 a0005c0067t0001g0068 |
2 | 208 | 0.0096 | 13 | c.*58 others(24): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 3039 | chr12 | TogoVar | |||||||
EPAS1_chr2_46292407_46391697 | 46359257 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02735.hp2 HG02965.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0004a0001c0001t0037a0002c0002t0005others(1): Show | a0001c0001t0004g0214 a0001c0001t0037g0184 a0002c0002t0005g0016 others(1): Show |
4 | 326 | 0.0123 | 13 | c.455 others(30): Show |
EPAS1 | ENSG00000116016.14 | transcript | ENST00000263734.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPB41L1_chr20_36149740_36237799 | 36234153 | A | ATATATGT others(6): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 236 | 0.0042 | 13 | c.*48 others(24): Show |
EPB41L1 | ENSG00000088367.23 | transcript | ENST00000338074.7 | protein_coding | 1355 | chr20 | TogoVar | |||||||
EPB41L2_chr6_130834347_131068245 | 130937821 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0335 | 1 | 356 | 0.0028 | 13 | c.706 others(32): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | |||||||
EPB41L2_chr6_130834347_131068245 | 130937833 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0002 | 1 | 356 | 0.0028 | 13 | c.706 others(32): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | |||||||
EPB41L2_chr6_130834347_131068245 | 130954040 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01243.hp2 HG01256.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0145 a0001c0001t0001g0151 a0001c0001t0001g0194 others(1): Show |
4 | 356 | 0.0112 | 13 | c.705 others(30): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | |||||||
EPB41L2_chr6_130834347_131068245 | 130954040 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 356 | 0.0028 | 13 | c.705 others(30): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3/19 | chr6 | TogoVar | |||||||
EPB41L3_chr18_5387386_5548997 | 5481783 | A | ATCCCTTT others(6): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG02109.hp2 others(6): Show |
a0001a0003a0004 | a0001c0002a0003c0010a0004c0006 | a0001c0002t0001a0001c0002t0002a0003c0010t0007others(2): Show | a0001c0002t0001g0215 a0001c0002t0002g0047 a0001c0002t0002g0069 others(6): Show |
9 | 222 | 0.0405 | 13 | c.184 others(30): Show |
EPB41L3 | ENSG00000082397.18 | transcript | ENST00000341928.7 | protein_coding | 2/22 | chr18 | TogoVar | |||||||
EPB41L4A_chr5_112157619_112424277 | 112346216 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0167 | 1 | 228 | 0.0044 | 13 | c.100 others(32): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
EPB41L4A_chr5_112157619_112424277 | 112408675 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 228 | 0.0044 | 13 | c.99+ others(30): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
EPB41L4B_chr9_109166974_109326059 | 109270067 | G | GTGCAGGA others(6): Show |
intron_variant | MODIFIER | HG02004.hp1 NA18747.hp2 NA18955.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0042 a0001c0001t0001g0116 a0001c0001t0002g0177 others(9): Show |
12 | 318 | 0.0377 | 13 | c.412 others(30): Show |
EPB41L4B | ENSG00000095203.15 | transcript | ENST00000374566.8 | protein_coding | 2/25 | chr9 | TogoVar | |||||||
EPB41L5_chr2_120008077_120184119 | 120061031 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0108 | 1 | 278 | 0.0036 | 13 | c.286 others(32): Show |
EPB41L5 | ENSG00000115109.14 | transcript | ENST00000263713.10 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |