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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EAF1_chr3_15422598_15447613 | 15442208 | G | GGTGTGTG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG03209.hp1 HG03516.hp1 NA18522.hp2 |
a0001 | a0001c0005 | a0001c0005t0017 | a0001c0005t0017g0017 a0001c0005t0017g0043 |
3 | 418 | 0.0072 | 18 | c.*30 others(29): Show |
EAF1 | ENSG00000144597.14 | transcript | ENST00000396842.7 | protein_coding | 6/6 | 3082 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
EAPP_chr14_34510938_34544701 | 34524657 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02155.hp1 HG03654.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0209 a0001c0001t0001g0218 a0001c0001t0001g0226 others(2): Show |
5 | 360 | 0.0139 | 18 | c.581 others(31): Show |
EAPP | ENSG00000129518.10 | transcript | ENST00000250454.8 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EBAG9_chr8_109535173_109570996 | 109538047 | A | ATTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG02647.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0040 others(6): Show |
9 | 356 | 0.0253 | 18 | c.-24 others(29): Show |
EBAG9 | ENSG00000147654.16 | transcript | ENST00000337573.10 | protein_coding | 2125 | chr8 | TogoVar | |||||||
EBF1_chr5_158690920_159104916 | 158940763 | G | GCCCCCCC others(11): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0162 | 1 | 196 | 0.0051 | 18 | c.555 others(39): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
EBF1_chr5_158690920_159104916 | 158983897 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 196 | 0.0051 | 18 | c.554 others(37): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
EBF1_chr5_158690920_159104916 | 159006647 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0069 | 1 | 196 | 0.0051 | 18 | c.554 others(37): Show |
EBF1 | ENSG00000164330.18 | transcript | ENST00000313708.11 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 25986001 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18906.hp1 NA18964.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0002t0015 | a0001c0001t0002g0016 a0001c0001t0006g0214 a0001c0002t0015g0040 |
3 | 220 | 0.0136 | 18 | c.551 others(37): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 26005561 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 220 | 0.0046 | 18 | c.551 others(37): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 26005561 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0105 | 1 | 220 | 0.0046 | 18 | c.551 others(37): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 26010988 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02809.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0010 | a0001c0002t0001g0024 a0001c0005t0010g0008 |
2 | 220 | 0.0091 | 18 | c.551 others(37): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EBF3_chr10_129830233_129969274 | 129917651 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02809.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0016a0002c0003t0024 | a0001c0001t0016g0102 a0002c0003t0024g0331 |
2 | 338 | 0.0059 | 18 | c.554 others(37): Show |
EBF3 | ENSG00000108001.16 | transcript | ENST00000440978.2 | protein_coding | 6/16 | chr10 | TogoVar | |||||||
EBF4_chr20_2687780_2765108 | 2711148 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02965.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 a0001c0002t0001g0239 |
3 | 388 | 0.0077 | 18 | c.557 others(35): Show |
EBF4 | ENSG00000088881.22 | transcript | ENST00000609451.6 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EBI3_chr19_4224523_4242528 | 4236518 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA19004.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 a0001c0001t0001g0176 |
2 | 438 | 0.0046 | 18 | c.538 others(33): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EBLN2_chr3_73056659_73068337 | 73066239 | C | CATACATA others(11): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 NA18966.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 2 | 428 | 0.0047 | 18 | c.*33 others(29): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 2903 | chr3 | TogoVar | |||||||
EBPL_chr13_49655674_49696486 | 49673962 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01975.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0142 a0001c0001t0001g0214 others(7): Show |
11 | 410 | 0.0268 | 18 | c.172 others(35): Show |
EBPL | ENSG00000123179.14 | transcript | ENST00000242827.11 | protein_coding | 1/3 | chr13 | TogoVar | |||||||
ECHDC1_chr6_127283712_127348609 | 127307648 | G | GAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0265 | 1 | 358 | 0.0028 | 18 | c.497 others(35): Show |
ECHDC1 | ENSG00000093144.19 | transcript | ENST00000454859.8 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
ECI1_chr16_2234402_2256587 | 2238235 | T | TCTGCCCC others(11): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0039 others(3): Show |
10 | 436 | 0.0229 | 18 | c.*17 others(29): Show |
ECI1 | ENSG00000167969.13 | transcript | ENST00000301729.9 | protein_coding | 1166 | chr16 | TogoVar | |||||||
ECM2_chr9_92490315_92540990 | 92532015 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18940.hp1 NA18970.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0122 a0001c0002t0002g0142 a0001c0002t0002g0147 others(2): Show |
5 | 400 | 0.0125 | 18 | c.-28 others(35): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ECM2_chr9_92490315_92540990 | 92533320 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0130 | 1 | 400 | 0.0025 | 18 | c.-28 others(35): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ECM2_chr9_92490315_92540990 | 92533328 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 400 | 0.0025 | 18 | c.-28 others(35): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ECM2_chr9_92490315_92540990 | 92533328 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01069.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0259 a0001c0001t0001g0260 |
4 | 400 | 0.0100 | 18 | c.-28 others(35): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ECM2_chr9_92490315_92540990 | 92533328 | A | AAAATATA others(11): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 400 | 0.0025 | 18 | c.-28 others(35): Show |
ECM2 | ENSG00000106823.13 | transcript | ENST00000344604.10 | protein_coding | 1/9 | chr9 | TogoVar | |||||||
ECPAS_chr9_111355685_111489383 | 111407428 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0127 | 1 | 354 | 0.0028 | 18 | c.265 others(37): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 24/49 | chr9 | TogoVar | |||||||
ECPAS_chr9_111355685_111489383 | 111470746 | C | CCACACAC others(11): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 354 | 0.0028 | 18 | c.22+ others(33): Show |
ECPAS | ENSG00000136813.15 | transcript | ENST00000684092.1 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ECRG4_chr2_106060688_106083155 | 106071322 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00423.hp1 NA18940.hp1 NA18950.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 a0001c0001t0001g0139 a0001c0001t0001g0140 others(1): Show |
4 | 434 | 0.0092 | 18 | c.80- others(31): Show |
ECRG4 | ENSG00000119147.10 | transcript | ENST00000238044.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ECSCR_chr5_139443560_139467743 | 139446491 | T | TTCTTTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 369 | 0.0027 | 18 | c.*24 others(29): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 2068 | chr5 | TogoVar | |||||||
ECSCR_chr5_139443560_139467743 | 139458500 | C | CAACAACA others(11): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 369 | 0.0027 | 18 | c.62- others(31): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
ECSIT_chr19_11500929_11534134 | 11508383 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 312 | 0.0032 | 18 | c.739 others(33): Show |
ECSIT | ENSG00000130159.15 | transcript | ENST00000270517.12 | protein_coding | 4/7 | chr19 | TogoVar | |||||||
ECT2L_chr6_138791087_138909070 | 138834935 | A | ACACACAC others(11): Show |
intron_variant | MODIFIER | HG01952.hp2 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 a0001c0001t0002g0156 |
2 | 326 | 0.0061 | 18 | c.180 others(35): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138873890 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp2 others(31): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0125 a0001c0001t0001g0165 a0001c0001t0003g0137 others(31): Show |
34 | 326 | 0.1043 | 18 | c.157 others(37): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138873892 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03098.hp1 NA19240.hp1 |
a0001a0004 | a0001c0033a0004c0008 | a0001c0033t0002a0004c0008t0009 | a0001c0033t0002g0299 a0004c0008t0009g0314 |
2 | 326 | 0.0061 | 18 | c.157 others(37): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138873894 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03225.hp2 HG03486.hp2 |
a0001a0012 | a0001c0001a0012c0016 | a0001c0001t0009a0012c0016t0002 | a0001c0001t0009g0108 a0012c0016t0002g0307 a0012c0016t0002g0308 |
3 | 326 | 0.0092 | 18 | c.157 others(37): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138873900 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02895.hp1 HG02896.hp1 others(3): Show |
a0001a0007 | a0001c0001a0007c0011a0007c0015 | a0001c0001t0004a0007c0011t0014a0007c0011t0021others(1): Show | a0001c0001t0004g0040 a0007c0011t0014g0013 a0007c0011t0014g0237 others(3): Show |
6 | 326 | 0.0184 | 18 | c.157 others(37): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2L_chr6_138791087_138909070 | 138890492 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 326 | 0.0031 | 18 | c.241 others(37): Show |
ECT2L | ENSG00000203734.13 | transcript | ENST00000541398.7 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ECT2_chr3_172745726_172826474 | 172758468 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG02165.hp2 others(31): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0003a0006c0012t0003 | a0001c0001t0003g0006 a0001c0001t0003g0009 a0001c0001t0003g0214 others(26): Show |
34 | 318 | 0.1069 | 18 | c.487 others(33): Show |
ECT2 | ENSG00000114346.14 | transcript | ENST00000392692.8 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ECT2_chr3_172745726_172826474 | 172797018 | C | CTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0005 | a0005c0011 | a0005c0011t0002 | a0005c0011t0002g0174 | 1 | 318 | 0.0031 | 18 | c.190 others(37): Show |
ECT2 | ENSG00000114346.14 | transcript | ENST00000392692.8 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ECT2_chr3_172745726_172826474 | 172802094 | G | GTTTTGTT others(11): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0227 | 1 | 318 | 0.0031 | 18 | c.190 others(35): Show |
ECT2 | ENSG00000114346.14 | transcript | ENST00000392692.8 | protein_coding | 18/24 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EDA2R_chrX_66590637_66644078 | 66594236 | A | AGTGTGTG others(11): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0038 | 1 | 222 | 0.0045 | 18 | c.*38 others(29): Show |
EDA2R | ENSG00000131080.15 | transcript | ENST00000374719.8 | protein_coding | 1400 | chrX | TogoVar | |||||||
EDARADD_chr1_236389286_236489930 | 236390941 | G | GTTATTAT others(11): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 HG02135.hp1 HG03688.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0066 others(4): Show |
7 | 294 | 0.0238 | 18 | c.-35 others(29): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 3344 | chr1 | TogoVar | |||||||
EDARADD_chr1_236389286_236489930 | 236393391 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0287 | 1 | 294 | 0.0034 | 18 | c.-10 others(29): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 894 | chr1 | TogoVar | |||||||
EDARADD_chr1_236389286_236489930 | 236405790 | T | TTTTTTCT others(11): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 294 | 0.0034 | 18 | c.62- others(33): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236405925 | C | CTTTCTTT others(11): Show |
intron_variant | MODIFIER | HG02698.hp2 HG03654.hp2 HG04184.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0171 a0001c0001t0002g0218 a0001c0001t0003g0178 others(1): Show |
4 | 294 | 0.0136 | 18 | c.62- others(33): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDARADD_chr1_236389286_236489930 | 236445234 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(85): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0048 a0001c0001t0001g0086 a0001c0001t0001g0087 others(84): Show |
88 | 294 | 0.2993 | 18 | c.219 others(37): Show |
EDARADD | ENSG00000186197.15 | transcript | ENST00000334232.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EDAR_chr2_108889471_108994220 | 108932528 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0135 | 1 | 226 | 0.0044 | 18 | c.-18 others(35): Show |
EDAR | ENSG00000135960.10 | transcript | ENST00000258443.7 | protein_coding | 1/11 | chr2 | TogoVar | |||||||
EDA_chrX_69611113_70044472 | 69655762 | C | CTATATAT others(11): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00741.hp1 HG01069.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0085 a0001c0001t0001g0104 a0001c0001t0001g0131 others(10): Show |
13 | 226 | 0.0575 | 18 | c.396 others(37): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69888977 | G | GATAGATA others(11): Show |
intron_variant | MODIFIER | HG01433.hp1 NA19058.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0177 a0001c0001t0001g0198 a0001c0001t0002g0171 |
3 | 226 | 0.0133 | 18 | c.397 others(37): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
EDA_chrX_69611113_70044472 | 69888977 | G | GATATATA others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01346.hp1 HG01361.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0046 a0001c0001t0001g0162 a0001c0001t0001g0174 others(3): Show |
6 | 226 | 0.0266 | 18 | c.397 others(37): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | chrX | TogoVar | |||||||
EDA_chrX_69611113_70044472 | 69888978 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0043 others(12): Show |
15 | 226 | 0.0664 | 18 | c.397 others(37): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69910374 | A | AGAGAGAG others(11): Show |
intron_variant | MODIFIER | NA18945.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0073 a0001c0001t0003g0093 |
2 | 226 | 0.0089 | 18 | c.397 others(37): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
EDA_chrX_69611113_70044472 | 69924411 | A | ATTAAATA others(11): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(215): Show |
219 | 226 | 0.9690 | 18 | c.397 others(37): Show |
EDA | ENSG00000158813.18 | transcript | ENST00000374552.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar |