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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH14_chr1_224924675_225404286 | 225078818 | CTCTCTCC others(26): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp1 |
a0007a0067 | a0007c0007a0067c0054 | a0007c0007t0001a0067c0054t0001 | a0007c0007t0001g0017 a0067c0054t0001g0007 |
2 | 237 | 0.0084 | -33 | c.242 others(50): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 17/85 | chr1 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78478259 | TTATCATC others(26): Show |
T | intron_variant | MODIFIER | HG00735.hp1 | a0015 | a0015c0163 | a0015c0163t0001 | a0015c0163t0001g0158 | 1 | 250 | 0.0040 | -33 | c.799 others(50): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | |||||||
DNAH6_chr2_84511498_84824589 | 84553360 | TTTTCTTT others(26): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp2 HG03540.hp2 others(2): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0001 a0003c0002t0001g0004 a0003c0002t0001g0005 others(2): Show |
5 | 35 | 0.1429 | -33 | c.160 others(50): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 10/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195750104 | GGAACACT others(26): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 254 | 0.0039 | -33 | c.117 others(54): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 63/64 | chr2 | TogoVar | |||||||
DNAH8_chr6_38710311_39035792 | 38874088 | CTTTCTTT others(26): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01069.hp1 others(31): Show |
a0001a0003a0004others(14): Show | a0001c0035a0001c0097a0003c0006others(22): Show | a0001c0035t0001a0001c0097t0001a0003c0006t0001others(22): Show | a0001c0035t0001g0019 a0001c0097t0001g0223 a0003c0006t0001g0047 others(31): Show |
34 | 284 | 0.1197 | -33 | c.762 others(50): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 52/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
DNM1L_chr12_32674301_32750650 | 32717571 | TATATACC others(26): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp2 HG01071.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0002a0001c0004t0002 | a0001c0001t0001g0133 a0001c0001t0001g0165 a0001c0001t0001g0166 others(18): Show |
22 | 195 | 0.1128 | -33 | c.620 others(48): Show |
DNM1L | ENSG00000087470.21 | transcript | ENST00000549701.6 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNMT3A_chr2_25222874_25346925 | 25300703 | AAATAATA others(26): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0116 | a0001c0001t0116g0252 | 1 | 292 | 0.0034 | -33 | c.73- others(46): Show |
DNMT3A | ENSG00000119772.19 | transcript | ENST00000321117.10 | protein_coding | 2/22 | chr2 | TogoVar | |||||||
DNTTIP1_chr20_45786954_45816418 | 45800693 | AAATATAT others(26): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG01358.hp1 HG02040.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0033 |
6 | 289 | 0.0208 | -33 | c.373 others(48): Show |
DNTTIP1 | ENSG00000101457.13 | transcript | ENST00000372622.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOCK3_chr3_50669927_51389198 | 51016706 | TTATATAT others(26): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0163 | 1 | 210 | 0.0048 | -33 | c.316 others(52): Show |
DOCK3 | ENSG00000088538.13 | transcript | ENST00000266037.10 | protein_coding | 5/52 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DOCK7_chr1_62449726_62693386 | 62553338 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 226 | 0.0044 | -33 | c.259 others(50): Show |
DOCK7 | ENSG00000116641.18 | transcript | ENST00000635253.2 | protein_coding | 21/49 | chr1 | TogoVar | |||||||
DOCK7_chr1_62449726_62693386 | 62553340 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 a0001c0001t0001g0126 |
2 | 217 | 0.0092 | -33 | c.259 others(50): Show |
DOCK7 | ENSG00000116641.18 | transcript | ENST00000635253.2 | protein_coding | 21/49 | chr1 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400901 | ACTACCAA others(26): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0016 | a0001c0016t0006 | a0001c0016t0006g0060 | 1 | 249 | 0.0040 | -33 | c.323 others(52): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 470187 | GGGTAGGG others(26): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0115 | 1 | 252 | 0.0040 | -33 | c.*59 others(44): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 4933 | chr9 | TogoVar | |||||||
DOK1_chr2_74549720_74562551 | 74561079 | GAGGAGGA others(26): Show |
G | downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 332 | 0.0030 | -33 | c.*39 others(44): Show |
DOK1 | ENSG00000115325.14 | transcript | ENST00000233668.10 | protein_coding | 3529 | chr2 | TogoVar | |||||||
DOK5_chr20_54470593_54656169 | 54609532 | CACACACA others(26): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 128 | 0.0078 | -33 | c.600 others(48): Show |
DOK5 | ENSG00000101134.12 | transcript | ENST00000262593.10 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3486661 | CTGCACCC others(26): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0005 | a0005c0024 | a0005c0024t0008 | a0005c0024t0008g0272 | 1 | 402 | 0.0025 | -33 | c.652 others(50): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DOK7_chr4_3458306_3499482 | 3486672 | TAGGTGTC others(26): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00609.hp1 others(105): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0015a0002c0002others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0019others(23): Show | a0001c0001t0002g0018 a0001c0001t0002g0127 a0001c0001t0002g0177 others(96): Show |
108 | 402 | 0.2687 | -33 | c.652 others(50): Show |
DOK7 | ENSG00000175920.18 | transcript | ENST00000340083.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DOT1L_chr19_2158933_2237578 | 2233329 | GCAGGGGG others(26): Show |
G | downstream_gene_variant | MODIFIER | NA19240.hp1 | a0005 | a0005c0025 | a0005c0025t0032 | a0005c0025t0032g0100 | 1 | 376 | 0.0027 | -33 | c.*35 others(44): Show |
DOT1L | ENSG00000104885.19 | transcript | ENST00000398665.8 | protein_coding | 752 | chr19 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89634528 | CCCCTTCC others(26): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01993.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 a0001c0001t0001g0234 a0001c0001t0001g0235 others(1): Show |
4 | 243 | 0.0165 | -33 | c.105 others(50): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPF1_chr19_38206006_38229222 | 38220147 | CACTGCAC others(26): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 432 | 0.0023 | -33 | c.299 others(50): Show |
DPF1 | ENSG00000011332.22 | transcript | ENST00000355526.10 | protein_coding | 3/11 | chr19 | TogoVar | |||||||
DPF3_chr14_72604034_72899101 | 72892966 | AGGAAGGA others(26): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0234 | 1 | 232 | 0.0043 | -33 | c.32+ others(48): Show |
DPF3 | ENSG00000205683.12 | transcript | ENST00000556509.6 | protein_coding | 1/10 | chr14 | TogoVar | |||||||
DPY19L2_chr12_63553913_63673493 | 63592228 | GATTCAAT others(26): Show |
G | intron_variant | MODIFIER | NA18956.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0070 | 1 | 360 | 0.0028 | -33 | c.158 others(52): Show |
DPY19L2 | ENSG00000177990.12 | transcript | ENST00000324472.9 | protein_coding | 16/21 | chr12 | TogoVar | |||||||
DPYSL4_chr10_132181948_132210759 | 132199072 | CGGGGCAC others(26): Show |
C | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0090 | 1 | 415 | 0.0024 | -33 | c.811 others(48): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
DPYSL4_chr10_132181948_132210759 | 132205955 | GCAGCCAA others(26): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00621.hp1 others(54): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0016 a0001c0001t0001g0017 others(23): Show |
57 | 309 | 0.1845 | -33 | c.*10 others(44): Show |
DPYSL4 | ENSG00000151640.13 | transcript | ENST00000338492.9 | protein_coding | 197 | chr10 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117577437 | TTTCCTTC others(26): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG01361.hp2 others(7): Show |
a0001a0002a0003 | a0001c0021a0001c0030a0001c0052others(7): Show | a0001c0021t0001a0001c0030t0002a0001c0052t0001others(7): Show | a0001c0021t0001g0145 a0001c0030t0002g0133 a0001c0052t0001g0123 others(7): Show |
10 | 80 | 0.1250 | -33 | c.512 others(52): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117577507 | CTCCTTCC others(26): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG02976.hp2 |
a0001a0002 | a0001c0043a0002c0066 | a0001c0043t0001a0002c0066t0002 | a0001c0043t0001g0184 a0002c0066t0002g0070 |
2 | 57 | 0.0351 | -33 | c.512 others(52): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSCAML1_chr11_117422772_117802216 | 117769519 | TTATATAT others(26): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp1 HG00738.hp1 others(47): Show |
a0001a0002a0004others(1): Show | a0001c0007a0001c0008a0001c0009others(33): Show | a0001c0007t0001a0001c0008t0001a0001c0008t0002others(40): Show | a0001c0007t0001g0138 a0001c0008t0001g0137 a0001c0008t0002g0099 others(47): Show |
50 | 176 | 0.2841 | -33 | c.511 others(50): Show |
DSCAML1 | ENSG00000177103.15 | transcript | ENST00000651296.2 | protein_coding | 3/32 | chr11 | TogoVar | |||||||
DSG3_chr18_31442741_31483702 | 31457579 | TTCTTTCT others(26): Show |
T | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0011 | a0001c0011t0049 | a0001c0011t0049g0194 | 1 | 344 | 0.0029 | -33 | c.216 others(48): Show |
DSG3 | ENSG00000134757.5 | transcript | ENST00000257189.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18708211 | TATATATA others(26): Show |
T | intron_variant | MODIFIER | HG01109.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0040 |
2 | 364 | 0.0055 | -33 | c.478 others(52): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18708219 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(95): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 others(95): Show |
98 | 260 | 0.3769 | -33 | c.478 others(52): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTNB_chr2_25372243_25678577 | 25610594 | TGAACTTT others(26): Show |
T | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 166 | 0.0060 | -33 | c.363 others(50): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 4/20 | chr2 | TogoVar | |||||||
DUS3L_chr19_5780140_5796163 | 5796129 | GTCTTCTT others(26): Show |
G | upstream_gene_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0032 | 1 | 122 | 0.0082 | -33 | c.-50 others(44): Show |
DUS3L | ENSG00000141994.16 | transcript | ENST00000309061.12 | protein_coding | 4967 | chr19 | TogoVar | |||||||
DUSP11_chr2_73757213_73785103 | 73782702 | TAAAAAAT others(26): Show |
T | upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 384 | 0.0026 | -33 | c.-27 others(44): Show |
DUSP11 | ENSG00000144048.11 | transcript | ENST00000272444.8 | protein_coding | 2600 | chr2 | TogoVar | |||||||
DUSP14_chr17_37484891_37518498 | 37509232 | CTATATAC others(26): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02965.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0185 a0001c0001t0007g0052 a0001c0001t0007g0055 others(1): Show |
4 | 417 | 0.0096 | -33 | c.-18 others(52): Show |
DUSP14 | ENSG00000276023.5 | transcript | ENST00000617516.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
DUSP26_chr8_33586330_33605023 | 33587544 | TCTTTCTT others(26): Show |
T | downstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0109 | 1 | 418 | 0.0024 | -33 | c.*44 others(44): Show |
DUSP26 | ENSG00000133878.9 | transcript | ENST00000256261.9 | protein_coding | 3785 | chr8 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57172072 | GGGGCGCG others(26): Show |
G | upstream_gene_variant | MODIFIER | HG02630.hp1 HG03041.hp1 HG03927.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 a0001c0001t0001g0223 a0001c0001t0001g0364 |
3 | 440 | 0.0068 | -33 | c.-46 others(44): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4588 | chr19 | TogoVar | |||||||
DUXA_chr19_57149021_57172485 | 57172140 | GGGGCGCG others(26): Show |
G | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0366 | 1 | 443 | 0.0023 | -33 | c.-47 others(44): Show |
DUXA | ENSG00000258873.3 | transcript | ENST00000554048.3 | protein_coding | 4656 | chr19 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1337865 | GCTGGGGG others(26): Show |
G | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 342 | 0.0029 | -33 | c.171 others(49): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 14/14 | chr1 | TogoVar | |||||||
DYDC1_chr10_80331105_80361755 | 80353216 | ATGAAGCT others(26): Show |
A | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 364 | 0.0027 | -33 | c.-9- others(46): Show |
DYDC1 | ENSG00000170788.14 | transcript | ENST00000372202.6 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
DYDC2_chr10_80351781_80373073 | 80353216 | ATGAAGCT others(26): Show |
A | upstream_gene_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 386 | 0.0026 | -33 | c.-37 others(44): Show |
DYDC2 | ENSG00000133665.13 | transcript | ENST00000256039.3 | protein_coding | 3564 | chr10 | TogoVar | |||||||
DYNLRB2_chr16_80535993_80555811 | 80554489 | CCTCTTGG others(26): Show |
C | downstream_gene_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | -33 | c.*39 others(44): Show |
DYNLRB2 | ENSG00000168589.15 | transcript | ENST00000305904.11 | protein_coding | 3679 | chr16 | TogoVar | |||||||
DYRK3_chr1_206630536_206660158 | 206637166 | ATGGGGAA others(26): Show |
A | intron_variant | MODIFIER | HG02717.hp2 HG03098.hp2 |
a0004 | a0004c0003 | a0004c0003t0016a0004c0003t0017 | a0004c0003t0016g0042 a0004c0003t0017g0043 |
2 | 394 | 0.0051 | -33 | c.78- others(46): Show |
DYRK3 | ENSG00000143479.18 | transcript | ENST00000367109.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DZIP1L_chr3_138056990_138120608 | 138091664 | GGAGGGAG others(26): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00438.hp1 others(132): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0002c0007others(9): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0046 others(99): Show |
135 | 310 | 0.4355 | -33 | c.870 others(48): Show |
DZIP1L | ENSG00000158163.15 | transcript | ENST00000327532.7 | protein_coding | 5/15 | chr3 | TogoVar | |||||||
DZIP3_chr3_108584722_108699840 | 108613130 | TTAAAGGT others(26): Show |
T | intron_variant | MODIFIER | HG01884.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 a0001c0001t0002g0024 |
2 | 316 | 0.0063 | -33 | c.258 others(50): Show |
DZIP3 | ENSG00000198919.13 | transcript | ENST00000361582.8 | protein_coding | 4/32 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EARS2_chr16_23515754_23562350 | 23545294 | TGGAGAGG others(26): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01070.hp1 HG01071.hp1 others(10): Show |
a0001a0003a0004 | a0001c0003a0003c0005a0004c0006 | a0001c0003t0003a0003c0005t0003a0003c0005t0019others(1): Show | a0001c0003t0003g0019 a0001c0003t0003g0039 a0001c0003t0003g0054 others(9): Show |
13 | 283 | 0.0459 | -33 | c.296 others(48): Show |
EARS2 | ENSG00000103356.18 | transcript | ENST00000449606.7 | protein_coding | 2/8 | chr16 | TogoVar | |||||||
ECPAS_chr9_111355685_111489383 | 111479358 | CAGACCAG others(26): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0145 | 1 | 352 | 0.0028 | -33 | c.-83 others(50): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 1/49 | chr9 | TogoVar | |||||||
EDA_chrX_69611113_70044472 | 69735183 | CATACACA others(26): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00639.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0028 a0001c0001t0001g0035 others(31): Show |
35 | 226 | 0.1549 | -33 | c.396 others(54): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EFCAB7_chr1_63518525_63577693 | 63525327 | AAAATTAG others(26): Show |
A | intron_variant | MODIFIER | NA18997.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0195 | 1 | 372 | 0.0027 | -33 | c.-1- others(46): Show |
EFCAB7 | ENSG00000203965.13 | transcript | ENST00000371088.5 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
EFCAB8_chr20_32853923_32966845 | 32866778 | TTCTTCCT others(26): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02818.hp1 others(3): Show |
a0002a0007a0009others(1): Show | a0002c0011a0007c0006a0009c0041others(1): Show | a0002c0011t0001a0007c0006t0001a0009c0041t0001others(1): Show | a0002c0011t0001g0246 a0002c0011t0001g0247 a0002c0011t0001g0248 others(3): Show |
6 | 282 | 0.0213 | -33 | c.43- others(46): Show |
EFCAB8 | ENSG00000215529.13 | transcript | ENST00000400522.9 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EFNA2_chr19_1280873_1306431 | 1295990 | GTGGGGCC others(26): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG01106.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(6): Show | a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0080 others(14): Show |
17 | 291 | 0.0584 | -33 | c.454 others(48): Show |
EFNA2 | ENSG00000099617.4 | transcript | ENST00000215368.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |