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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DTNB_chr2_25372243_25678577 | 25634236 | GGGGGGGT others(41): Show |
G | intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 166 | 0.0060 | -48 | c.148 others(65): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 3/20 | chr2 | TogoVar | |||||||
DTNB_chr2_25372243_25678577 | 25634345 | CCCCCCGC others(41): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 166 | 0.0060 | -48 | c.148 others(65): Show |
DTNB | ENSG00000138101.20 | transcript | ENST00000406818.8 | protein_coding | 3/20 | chr2 | TogoVar | |||||||
DTX2_chr7_76456709_76510991 | 76491896 | AACTCCTG others(41): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0124 | 1 | 278 | 0.0036 | -48 | c.909 others(63): Show |
DTX2 | ENSG00000091073.20 | transcript | ENST00000430490.7 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
DUS2_chr16_68018284_68084320 | 68020799 | ACATATAT others(41): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp2 HG03225.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 |
3 | 232 | 0.0129 | -48 | c.-26 others(59): Show |
DUS2 | ENSG00000167264.18 | transcript | ENST00000565263.6 | protein_coding | 2484 | chr16 | TogoVar | |||||||
DVL1_chr1_1330278_1354418 | 1350875 | CTGGACGG others(41): Show |
C | upstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 342 | 0.0029 | -48 | c.-18 others(59): Show |
DVL1 | ENSG00000107404.21 | transcript | ENST00000378888.10 | protein_coding | 1458 | chr1 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49080105 | CGGGGGGC others(41): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01071.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0006a0004c0010 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0002g0214 a0001c0001t0004g0136 a0001c0001t0004g0168 others(10): Show |
13 | 279 | 0.0466 | -48 | c.202 others(69): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49080563 | CGGACGGG others(41): Show |
C | intron_variant | MODIFIER | HG02970.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0030 | a0001c0001t0004g0132 a0001c0001t0030g0133 |
2 | 288 | 0.0069 | -48 | c.202 others(69): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 17/17 | chr18 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 26002872 | GGGCAGGC others(41): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 a0001c0001t0002g0119 |
2 | 214 | 0.0093 | -48 | c.551 others(67): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 26002880 | GGGCAGGC others(41): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01081.hp1 HG01109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0002g0111 a0001c0001t0003g0180 a0001c0001t0006g0196 others(7): Show |
10 | 216 | 0.0463 | -48 | c.551 others(67): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EBF2_chr8_25836725_26050413 | 26002896 | AGGCGGGC others(41): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG02055.hp1 HG02622.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0021a0002c0003t0005 | a0001c0001t0003g0207 a0001c0001t0021g0020 a0002c0003t0005g0102 |
3 | 216 | 0.0139 | -48 | c.551 others(67): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | |||||||
EBI3_chr19_4224523_4242528 | 4232728 | GAATGAAT others(41): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(52): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0005 | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0015 others(24): Show |
55 | 436 | 0.1261 | -48 | c.201 others(63): Show |
EBI3 | ENSG00000105246.6 | transcript | ENST00000221847.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ECSCR_chr5_139443560_139467743 | 139446465 | TTTTCTTT others(41): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp2 HG03579.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0038 |
3 | 136 | 0.0221 | -48 | c.*23 others(59): Show |
ECSCR | ENSG00000249751.4 | transcript | ENST00000618155.3 | protein_coding | 2094 | chr5 | TogoVar | |||||||
EEPD1_chr7_36148254_36306538 | 36178216 | ACAACTGC others(41): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0006others(1): Show | a0001c0001t0001g0102 a0001c0001t0002g0012 a0001c0004t0006g0013 others(2): Show |
5 | 344 | 0.0145 | -48 | c.878 others(67): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36197241 | GGGGGGGT others(41): Show |
G | intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0003 | a0002c0003t0038 | a0002c0003t0038g0001 | 1 | 341 | 0.0029 | -48 | c.879 others(67): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36305359 | TTCCCACT others(41): Show |
T | downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 344 | 0.0029 | -48 | c.*61 others(59): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3822 | chr7 | TogoVar | |||||||
EGFL7_chr9_136657916_136677678 | 136671139 | AGGCAGGC others(41): Show |
A | intron_variant | MODIFIER | HG04228.hp1 NA18974.hp1 NA18984.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0071 |
3 | 427 | 0.0070 | -48 | c.636 others(63): Show |
EGFL7 | ENSG00000172889.16 | transcript | ENST00000308874.12 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EIF3H_chr8_116637130_116760823 | 116679121 | GGGGTCAG others(41): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01123.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010 | a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0198 others(45): Show |
49 | 334 | 0.1467 | -48 | c.290 others(67): Show |
EIF3H | ENSG00000147677.12 | transcript | ENST00000521861.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
EIF4A1_chr17_7567825_7584006 | 7571864 | TATATATA others(41): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02723.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0009t0002 | a0001c0001t0001g0022 a0001c0001t0002g0015 a0001c0009t0002g0015 |
3 | 434 | 0.0069 | -48 | c.-97 others(57): Show |
EIF4A1 | ENSG00000161960.16 | transcript | ENST00000293831.13 | protein_coding | 960 | chr17 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 20815779 | GGGGGGGT others(41): Show |
G | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 310 | 0.0032 | -48 | c.451 others(67): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 34/36 | chr1 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3191169 | CAAAGACA others(41): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(91): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 others(91): Show |
94 | 248 | 0.3790 | -48 | c.989 others(65): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3191170 | AAAGACAG others(41): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00621.hp2 others(93): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0014 others(93): Show |
96 | 247 | 0.3887 | -48 | c.989 others(65): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
ELL2_chr5_95880098_95966851 | 95927630 | CACACACG others(41): Show |
C | intron_variant | MODIFIER | NA18973.hp2 NA18994.hp2 NA19009.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0163 a0001c0001t0003g0164 a0001c0001t0003g0190 others(1): Show |
4 | 311 | 0.0129 | -48 | c.196 others(65): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
ELOVL5_chr6_53262404_53353950 | 53306230 | AGGGGAGA others(41): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01071.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007 a0001c0001t0001g0058 a0001c0001t0001g0089 others(14): Show |
18 | 219 | 0.0822 | -48 | c.-8- others(65): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
ELOVL7_chr5_60746791_60849269 | 60802073 | TATATATA others(41): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 256 | 0.0039 | -48 | c.-85 others(65): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | |||||||
ELSPBP1_chr19_47989632_48030154 | 48016499 | TCTTTCTT others(41): Show |
T | intron_variant | MODIFIER | HG03710.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0296 | 1 | 386 | 0.0026 | -48 | c.355 others(63): Show |
ELSPBP1 | ENSG00000169393.10 | transcript | ENST00000339841.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
EMC10_chr19_50471507_50495871 | 50471642 | ATATACGC others(41): Show |
A | upstream_gene_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0135 | a0001c0001t0135g0002 | 1 | 136 | 0.0074 | -48 | c.-49 others(59): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 4864 | chr19 | TogoVar | |||||||
EMC10_chr19_50471507_50495871 | 50471707 | CGTGTGTG others(41): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0132 | a0001c0001t0132g0002 | 1 | 348 | 0.0029 | -48 | c.-48 others(59): Show |
EMC10 | ENSG00000161671.17 | transcript | ENST00000334976.11 | protein_coding | 4799 | chr19 | TogoVar | |||||||
ENDOV_chr17_80410167_80443086 | 80422377 | TCGGCGCA others(41): Show |
T | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098 | 1 | 418 | 0.0024 | -48 | c.403 others(63): Show |
ENDOV | ENSG00000173818.17 | transcript | ENST00000518137.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ENKUR_chr10_24976985_25021158 | 24988664 | GTATATAT others(41): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(179): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0068 others(103): Show |
182 | 183 | 0.9945 | -48 | c.594 others(65): Show |
ENKUR | ENSG00000151023.17 | transcript | ENST00000331161.9 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 666939 | AGATGGTG others(41): Show |
A | downstream_gene_variant | MODIFIER | HG02922.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0111 a0001c0001t0006g0227 |
2 | 328 | 0.0061 | -48 | c.*73 others(59): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3378 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 666951 | TGATGGAG others(41): Show |
T | downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 373 | 0.0027 | -48 | c.*73 others(59): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3366 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667017 | AGATGGAG others(41): Show |
A | downstream_gene_variant | MODIFIER | HG02818.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0065 | 1 | 321 | 0.0031 | -48 | c.*72 others(59): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3300 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667095 | AGATGGAG others(41): Show |
A | downstream_gene_variant | MODIFIER | HG01433.hp2 HG02717.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0033a0002c0002t0005 | a0001c0001t0033g0109 a0002c0002t0005g0097 |
2 | 301 | 0.0066 | -48 | c.*71 others(59): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3222 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667481 | TGATGGTG others(41): Show |
T | downstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0324 | 1 | 374 | 0.0027 | -48 | c.*67 others(59): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2836 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667505 | TGATGGTG others(41): Show |
T | downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0325 | 1 | 386 | 0.0026 | -48 | c.*67 others(59): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 2812 | chr18 | TogoVar | |||||||
ENTR1_chr9_136396922_136415614 | 136403295 | CCCAGGGA others(41): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
2 | 410 | 0.0049 | -48 | c.120 others(65): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
ENTR1_chr9_136396922_136415614 | 136403416 | CGGGGAAG others(41): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0141 |
2 | 358 | 0.0056 | -48 | c.120 others(65): Show |
ENTR1 | ENSG00000165689.17 | transcript | ENST00000357365.8 | protein_coding | 9/9 | chr9 | TogoVar | |||||||
EPB41L2_chr6_130834347_131068245 | 131066250 | CCAAGAGA others(41): Show |
C | upstream_gene_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 354 | 0.0028 | -48 | c.-31 others(59): Show |
EPB41L2 | ENSG00000079819.20 | transcript | ENST00000337057.8 | protein_coding | 3006 | chr6 | TogoVar | |||||||
EPB41L4A_chr5_112157619_112424277 | 112339471 | TATCTATA others(41): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0005 | a0005c0014 | a0005c0014t0011 | a0005c0014t0011g0070 | 1 | 226 | 0.0044 | -48 | c.100 others(67): Show |
EPB41L4A | ENSG00000129595.14 | transcript | ENST00000261486.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
EPHA10_chr1_37710976_37770120 | 37753663 | CGGGAGCA others(41): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(50): Show |
a0001a0004a0005others(4): Show | a0001c0001a0001c0036a0004c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(9): Show | a0001c0001t0001g0008 a0001c0001t0001g0054 a0001c0001t0001g0055 others(49): Show |
53 | 380 | 0.1395 | -48 | c.100 others(65): Show |
EPHA10 | ENSG00000183317.17 | transcript | ENST00000373048.9 | protein_coding | 4/16 | chr1 | TogoVar | |||||||
EPSTI1_chr13_42881388_42997241 | 42965734 | GTCTCCCT others(41): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 293 | 0.0034 | -48 | c.332 others(65): Show |
EPSTI1 | ENSG00000133106.15 | transcript | ENST00000313624.12 | protein_coding | 3/10 | chr13 | TogoVar | |||||||
EPX_chr17_58187726_58210174 | 58203900 | CCAGCCTG others(41): Show |
C | intron_variant | MODIFIER | HG02976.hp2 | a0003 | a0003c0014 | a0003c0014t0002 | a0003c0014t0002g0047 | 1 | 402 | 0.0025 | -48 | c.194 others(65): Show |
EPX | ENSG00000121053.6 | transcript | ENST00000225371.6 | protein_coding | 11/12 | chr17 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 212192755 | CTGATATC others(41): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02258.hp1 HG03225.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0047 a0001c0001t0004g0008 a0001c0001t0005g0015 others(5): Show |
8 | 56 | 0.1429 | -48 | c.83- others(65): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ERBIN_chr5_65921575_66087546 | 65940428 | CCCCCGCC others(41): Show |
C | intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 304 | 0.0033 | -48 | c.-58 others(67): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERBIN_chr5_65921575_66087546 | 65977201 | CCCCCCCA others(41): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0222 | 1 | 304 | 0.0033 | -48 | c.-57 others(67): Show |
ERBIN | ENSG00000112851.16 | transcript | ENST00000284037.10 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ERC2_chr3_55503311_56473467 | 55864110 | TATATATA others(41): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01099.hp1 HG01169.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0048 a0001c0001t0002g0008 others(2): Show |
5 | 72 | 0.0694 | -48 | c.256 others(69): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 14/17 | chr3 | TogoVar | |||||||
ERC2_chr3_55503311_56473467 | 56348919 | GGAAGGAA others(41): Show |
G | intron_variant | MODIFIER | HG02965.hp1 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0073 a0001c0001t0009g0072 |
2 | 71 | 0.0282 | -48 | c.658 others(67): Show |
ERC2 | ENSG00000187672.15 | transcript | ENST00000288221.11 | protein_coding | 2/17 | chr3 | TogoVar | |||||||
ERCC6_chr10_49449470_49544121 | 49526091 | TTATATAT others(41): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG00741.hp2 HG02922.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0018 a0002c0002t0009g0305 a0002c0002t0009g0307 |
4 | 334 | 0.0120 | -48 | c.653 others(65): Show |
ERCC6 | ENSG00000225830.16 | transcript | ENST00000355832.10 | protein_coding | 4/20 | chr10 | TogoVar | |||||||
ERCC6_chr10_49510198_49544121 | 49526091 | TTATATAT others(41): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG02922.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0036 a0002c0002t0001g0171 a0002c0002t0001g0173 |
4 | 345 | 0.0116 | -48 | c.653 others(65): Show |
ERCC6 | ENSG00000225830.16 | transcript | ENST00000447839.7 | protein_coding | 4/5 | chr10 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914662 | GTCTCTCC others(41): Show |
G | intron_variant | MODIFIER | HG03688.hp1 NA19007.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0094 a0001c0002t0002g0132 |
2 | 322 | 0.0062 | -48 | c.-13 others(65): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar |