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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DOCK5_chr8_25179689_25420711 | 25410962 | TGTGTGTG others(35): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0035 | a0001c0035t0044 | a0001c0035t0044g0205 | 1 | 208 | 0.0048 | -42 | c.550 others(59): Show |
DOCK5 | ENSG00000147459.18 | transcript | ENST00000276440.12 | protein_coding | 51/51 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DOCK7_chr1_62449726_62693386 | 62529220 | TAACACTT others(35): Show |
T | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 226 | 0.0044 | -42 | c.378 others(57): Show |
DOCK7 | ENSG00000116641.18 | transcript | ENST00000635253.2 | protein_coding | 30/49 | chr1 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400346 | CCACCACC others(35): Show |
C | intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0100 | a0002c0100t0004 | a0002c0100t0004g0031 | 1 | 190 | 0.0053 | -42 | c.323 others(61): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOK6_chr18_69395888_69854087 | 69811524 | TTATATAT others(35): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0056 | a0001c0003t0056g0002 | 1 | 119 | 0.0084 | -42 | c.857 others(61): Show |
DOK6 | ENSG00000206052.11 | transcript | ENST00000382713.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DONSON_chr21_33572551_33593684 | 33577604 | TACACACA others(35): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01257.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0034a0001c0002t0001 | a0001c0001t0001g0116 a0001c0001t0001g0124 a0001c0001t0001g0125 others(4): Show |
7 | 78 | 0.0897 | -42 | c.*66 others(51): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 661 | chr21 | TogoVar | ||||||
DONSON_chr21_33572551_33593684 | 33577661 | ACACACAC others(35): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0017 |
2 | 423 | 0.0047 | -42 | c.*60 others(51): Show |
DONSON | ENSG00000159147.18 | transcript | ENST00000303071.10 | protein_coding | 10/10 | 604 | chr21 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89638769 | GCACACAC others(35): Show |
G | downstream_gene_variant | MODIFIER | HG03239.hp2 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0114 |
2 | 248 | 0.0081 | -42 | c.*54 others(51): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 337 | chr16 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89640259 | CACAGGCT others(35): Show |
C | downstream_gene_variant | MODIFIER | HG02083.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 248 | 0.0040 | -42 | c.*20 others(53): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1827 | chr16 | TogoVar | |||||||
DPH1_chr17_2025153_2048898 | 2035431 | GAGGGCCC others(35): Show |
G | intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 389 | 0.0026 | -42 | c.279 others(57): Show |
DPH1 | ENSG00000108963.19 | transcript | ENST00000263083.12 | protein_coding | 3/12 | chr17 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137551649 | CAGCCCCG others(35): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0304 | 1 | 179 | 0.0056 | -42 | c.*35 others(53): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 2794 | chr9 | TogoVar | |||||||
DPP10_chr2_114437641_115850780 | 114664771 | TAGAGCAT others(35): Show |
T | intron_variant | MODIFIER | HG02922.hp1 NA18906.hp2 |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0002a0003c0003t0001 | a0002c0001t0002g0051 a0003c0003t0001g0046 |
2 | 56 | 0.0357 | -42 | c.60+ others(61): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPP10_chr2_114437641_115850780 | 114664939 | CAGAGCAT others(35): Show |
C | intron_variant | MODIFIER | HG02922.hp1 NA18906.hp2 |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0002a0003c0003t0001 | a0002c0001t0002g0051 a0003c0003t0001g0046 |
2 | 54 | 0.0370 | -42 | c.60+ others(61): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154065262 | GTGAGGGC others(35): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00673.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0007others(16): Show | a0001c0001t0005a0001c0001t0016a0001c0003t0007others(21): Show | a0001c0001t0005g0032 a0001c0001t0016g0005 a0001c0003t0007g0024 others(21): Show |
24 | 38 | 0.6316 | -42 | c.243 others(61): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DPP6_chr7_154047398_154899285 | 154305018 | TCCCCAGC others(35): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG02486.hp1 |
a0001a0002 | a0001c0007a0002c0004 | a0001c0007t0005a0002c0004t0004 | a0001c0007t0005g0038 a0002c0004t0004g0008 |
2 | 5 | 0.4000 | -42 | c.244 others(63): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DRD3_chr3_114122580_114184052 | 114156715 | GTCTTTCT others(35): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG01168.hp2 others(15): Show |
a0001 | a0001c0002a0001c0006a0001c0015 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0002t0001g0226 a0001c0002t0001g0235 a0001c0002t0001g0244 others(15): Show |
18 | 275 | 0.0655 | -42 | c.383 others(59): Show |
DRD3 | ENSG00000151577.14 | transcript | ENST00000383673.5 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
DRICH1_chr22_23603452_23637321 | 23623932 | TTCTCAAC others(35): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(155): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0015a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0001g0052 a0001c0001t0001g0138 a0001c0001t0001g0145 others(116): Show |
158 | 444 | 0.3559 | -42 | c.298 others(57): Show |
DRICH1 | ENSG00000189269.13 | transcript | ENST00000317749.9 | protein_coding | 3/11 | chr22 | TogoVar | |||||||
DSG3_chr18_31442741_31483702 | 31467766 | TGAATGTA others(35): Show |
T | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0186 | 1 | 344 | 0.0029 | -42 | c.163 others(61): Show |
DSG3 | ENSG00000134757.5 | transcript | ENST00000257189.5 | protein_coding | 11/15 | chr18 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56721150 | CCCCCCCA others(35): Show |
C | intron_variant | MODIFIER | HG01074.hp1 | a0017 | a0017c0023 | a0017c0023t0001 | a0017c0023t0001g0082 | 1 | 82 | 0.0122 | -42 | c.687 others(61): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 5/103 | chr6 | TogoVar | |||||||
DST_chr6_56452996_56959830 | 56721173 | GGCTGCCG others(35): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01109.hp2 HG01358.hp2 others(27): Show |
a0001a0002a0006others(17): Show | a0001c0005a0002c0002a0006c0007others(20): Show | a0001c0005t0001a0002c0002t0001a0006c0007t0001others(20): Show | a0001c0005t0001g0079 a0001c0005t0001g0080 a0002c0002t0001g0065 others(27): Show |
30 | 82 | 0.3659 | -42 | c.687 others(61): Show |
DST | ENSG00000151914.22 | transcript | ENST00000680361.1 | protein_coding | 5/103 | chr6 | TogoVar | |||||||
DTD1_chr20_18583054_18771644 | 18708235 | TATATATA others(35): Show |
T | intron_variant | MODIFIER | HG02257.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0211 a0001c0001t0017g0212 |
2 | 391 | 0.0051 | -42 | c.478 others(61): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 102047057 | AGTGCTGG others(35): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG02723.hp1 others(3): Show |
a0001 | a0001c0007a0001c0032 | a0001c0007t0013a0001c0007t0057a0001c0032t0056 | a0001c0007t0013g0035 a0001c0007t0013g0036 a0001c0007t0013g0074 others(3): Show |
6 | 278 | 0.0216 | -42 | c.130 others(61): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 72/77 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DYNC1H1_chr14_101959573_102061443 | 102057684 | CAACACCT others(35): Show |
C | downstream_gene_variant | MODIFIER | HG02717.hp2 HG03041.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0008a0001c0034a0001c0036 | a0001c0008t0016a0001c0008t0053a0001c0034t0054others(1): Show | a0001c0008t0016g0241 a0001c0008t0016g0254 a0001c0008t0053g0242 others(2): Show |
5 | 275 | 0.0182 | -42 | c.*71 others(53): Show |
DYNC1H1 | ENSG00000197102.14 | transcript | ENST00000360184.10 | protein_coding | 1242 | chr14 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158878210 | CGGGTGCT others(35): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0217 a0001c0001t0012g0218 |
2 | 272 | 0.0074 | -42 | c.574 others(59): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158878516 | CCGGGCGC others(35): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG02027.hp2 NA18948.hp2 others(5): Show |
a0002a0013a0014 | a0002c0002a0013c0014a0014c0019 | a0002c0002t0001a0013c0014t0001a0014c0019t0001 | a0002c0002t0001g0001 a0002c0002t0001g0035 a0002c0002t0001g0039 others(5): Show |
8 | 272 | 0.0294 | -42 | c.574 others(59): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917477 | ACCTCTCA others(35): Show |
A | intron_variant | MODIFIER | NA18964.hp2 NA19064.hp1 |
a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0248 a0003c0003t0007g0259 |
2 | 268 | 0.0075 | -42 | c.179 others(61): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158917625 | TCCTCCAC others(35): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02922.hp2 HG03453.hp1 |
a0002a0012 | a0002c0002a0012c0015 | a0002c0002t0001a0012c0015t0001 | a0002c0002t0001g0010 a0002c0002t0001g0057 a0012c0015t0001g0056 |
3 | 270 | 0.0111 | -42 | c.179 others(61): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
E2F1_chr20_33670477_33691385 | 33682996 | CCATATCT others(35): Show |
C | intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 380 | 0.0026 | -42 | c.262 others(59): Show |
E2F1 | ENSG00000101412.13 | transcript | ENST00000343380.6 | protein_coding | 1/6 | chr20 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 26049068 | AGAGGGTG others(35): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0002 | 1 | 218 | 0.0046 | -42 | c.-42 others(53): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 3656 | chr8 | TogoVar | |||||||
EDNRA_chr4_147476097_147549954 | 147537814 | GTTAACGT others(35): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(129): Show |
a0001a0004 | a0001c0002a0001c0006a0004c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(24): Show | a0001c0002t0001g0024 a0001c0002t0001g0043 a0001c0002t0001g0046 others(124): Show |
132 | 278 | 0.4748 | -42 | c.900 others(59): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 5/7 | chr4 | TogoVar | |||||||
EEF1A1_chr6_73510750_73526032 | 73524872 | TTTTTTTG others(35): Show |
T | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00673.hp2 others(54): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0002g0004 a0001c0001t0004g0003 others(7): Show |
57 | 422 | 0.1351 | -42 | c.-39 others(53): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 3841 | chr6 | TogoVar | |||||||
EEF2_chr19_3971056_3990463 | 3986032 | ACACCTTG others(35): Show |
A | upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 402 | 0.0025 | -42 | c.-69 others(51): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 570 | chr19 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89944970 | CTAATAAT others(35): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0027 | a0001c0002t0001g0168 a0001c0002t0002g0169 a0001c0002t0027g0172 |
3 | 278 | 0.0108 | -42 | c.217 others(59): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 3/5 | chr14 | TogoVar | |||||||
EFNA2_chr19_1280873_1306431 | 1300399 | CGGGAACA others(35): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0001 | 1 | 264 | 0.0038 | -42 | c.*59 others(51): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 4/4 | 592 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
EFNA5_chr5_107371894_107675937 | 107569489 | ATATATAT others(35): Show |
A | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0083 | 1 | 190 | 0.0053 | -42 | c.125 others(63): Show |
EFNA5 | ENSG00000184349.14 | transcript | ENST00000333274.11 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
EFNB3_chr17_7700202_7716372 | 7713436 | CTTAGGTG others(35): Show |
C | downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 432 | 0.0023 | -42 | c.*38 others(53): Show |
EFNB3 | ENSG00000108947.5 | transcript | ENST00000226091.3 | protein_coding | 2065 | chr17 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137780969 | CGTGTGGT others(35): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0150 | 1 | 154 | 0.0065 | -42 | c.227 others(61): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIF2B2_chr14_74997921_75017366 | 75009900 | TGGAGGCT others(35): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0020 | 1 | 324 | 0.0031 | -42 | c.*71 others(51): Show |
EIF2B2 | ENSG00000119718.11 | transcript | ENST00000266126.10 | protein_coding | 8/8 | 714 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
EIF4A1_chr17_7567825_7584006 | 7571868 | TATATATA others(35): Show |
T | upstream_gene_variant | MODIFIER | HG00597.hp1 HG02080.hp1 HG02135.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0003 | 6 | 433 | 0.0139 | -42 | c.-97 others(51): Show |
EIF4A1 | ENSG00000161960.16 | transcript | ENST00000293831.13 | protein_coding | 956 | chr17 | TogoVar | |||||||
EIF4A1_chr17_7567825_7584006 | 7571870 | TATATATA others(35): Show |
T | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG01934.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 9 | 420 | 0.0214 | -42 | c.-97 others(51): Show |
EIF4A1 | ENSG00000161960.16 | transcript | ENST00000293831.13 | protein_coding | 954 | chr17 | TogoVar | |||||||
EIF4G1_chr3_184309606_184340353 | 184319426 | GGTGTGTG others(35): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0010 | 1 | 342 | 0.0029 | -42 | c.425 others(57): Show |
EIF4G1 | ENSG00000114867.22 | transcript | ENST00000346169.7 | protein_coding | 6/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ELANE_chr19_847303_861243 | 853630 | CTGTCAAT others(35): Show |
C | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 402 | 0.0025 | -42 | c.366 others(57): Show |
ELANE | ENSG00000197561.7 | transcript | ENST00000263621.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ELANE_chr19_847303_861243 | 853840 | CTGTCAAT others(35): Show |
C | intron_variant | MODIFIER | HG00438.hp2 NA18947.hp2 NA19012.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 4 | 401 | 0.0100 | -42 | c.366 others(57): Show |
ELANE | ENSG00000197561.7 | transcript | ENST00000263621.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ELOVL7_chr5_60746791_60849269 | 60802083 | TATATATA others(35): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(96): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0042 others(91): Show |
99 | 255 | 0.3882 | -42 | c.-85 others(59): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
ELP3_chr8_28088139_28196153 | 28119572 | TTATATAT others(35): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0108 |
2 | 11 | 0.1818 | -42 | c.617 others(59): Show |
ELP3 | ENSG00000134014.18 | transcript | ENST00000256398.13 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ELP6_chr3_47490640_47518712 | 47513208 | TCTCGAAC others(35): Show |
T | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0172 | 1 | 372 | 0.0027 | -42 | c.54+ others(55): Show |
ELP6 | ENSG00000163832.16 | transcript | ENST00000296149.9 | protein_coding | 1/6 | chr3 | TogoVar | |||||||
EMC10_chr19_50471507_50495871 | 50471818 | GTGTGTAT others(35): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(19): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0018a0001c0002t0019a0001c0002t0034others(11): Show | a0001c0002t0018g0005 a0001c0002t0018g0020 a0001c0002t0019g0020 others(13): Show |
22 | 340 | 0.0647 | -42 | c.-47 others(53): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 4688 | chr19 | TogoVar | |||||||
EMC8_chr16_85773624_85804544 | 85800037 | AGGCTGCG others(35): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0018 | a0001c0001t0016g0040 a0001c0001t0016g0117 a0001c0001t0018g0118 others(1): Show |
5 | 406 | 0.0123 | -42 | c.-78 others(51): Show |
EMC8 | ENSG00000131148.9 | transcript | ENST00000253457.8 | protein_coding | 494 | chr16 | TogoVar | |||||||
ENKUR_chr10_24976985_25021158 | 24988312 | GTGTGTAT others(35): Show |
G | intron_variant | MODIFIER | HG03704.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 a0001c0001t0002g0109 |
2 | 382 | 0.0052 | -42 | c.594 others(59): Show |
ENKUR | ENSG00000151023.17 | transcript | ENST00000331161.9 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 666915 | TGATGGAG others(35): Show |
T | downstream_gene_variant | MODIFIER | HG02055.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0034 | 1 | 374 | 0.0027 | -42 | c.*73 others(53): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3402 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667023 | AGATGGTG others(35): Show |
A | downstream_gene_variant | MODIFIER | NA19057.hp1 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0344 | 1 | 308 | 0.0032 | -42 | c.*72 others(53): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3294 | chr18 | TogoVar |