| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ELF2_chr4_139052265_139182218 | 139135237 | ATGTGTGT others(9): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0341 | 1 | 342 | 0.0029 | -16 | c.72+ others(31): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 3/9 | chr4 | TogoVar | ||||||
| ELF2_chr4_139052265_139182218 | 139151032 | AAAAGAAA others(9): Show |
A | intron_variant | MODIFIER | HG02698.hp1 NA18992.hp2 NA19070.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0055a0001c0001t0002g0160a0001c0001t0002g0169others(1): Show | 4 | 342 | 0.0117 | -16 | c.-25 others(37): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 1/9 | chr4 | TogoVar | ||||||
| ELF4_chrX_130058955_130115497 | 130102944 | AAGGAAGG others(9): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00673.hp1 others(120): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0015others(118): Show | 123 | 274 | 0.4489 | -16 | c.-21 others(35): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 1/8 | chrX | TogoVar | ||||||
| ELF4_chrX_130058955_130115497 | 130105854 | CTGTGTGT others(9): Show |
C | intron_variant | MODIFIER | NA18939.hp2 NA18946.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001a0001c0001t0009g0064 | 3 | 274 | 0.0110 | -16 | c.-21 others(35): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 1/8 | chrX | TogoVar | ||||||
| ELFN1_chr7_1665277_1752946 | 1711575 | TGAGAGAG others(9): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG02074.hp2 HG04199.hp1 |
a0001a0012 | a0001c0001a0001c0002a0012c0019 | a0001c0001t0002a0001c0002t0018a0012c0019t0001 | a0001c0001t0002g0115a0001c0002t0018g0229a0012c0019t0001g0256 | 3 | 302 | 0.0099 | -16 | c.-29 others(35): Show |
ELFN1 | ENSG00000225968.8 | transcript | ENST00000424383.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ELFN2_chr22_37362960_37432479 | 37381955 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG03225.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0027a0001c0002t0008 | a0001c0001t0027g0204a0001c0001t0027g0216a0001c0002t0008g0228 | 3 | 334 | 0.0090 | -16 | c.-46 others(35): Show |
ELFN2 | ENSG00000166897.16 | transcript | ENST00000402918.7 | protein_coding | 2/2 | chr22 | TogoVar | ||||||
| ELK3_chr12_96189375_96274824 | 96228416 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(46): Show |
a0001 | a0001c0001a0001c0005a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0058a0001c0001t0001g0128a0001c0001t0001g0129others(45): Show | 49 | 354 | 0.1384 | -16 | c.207 others(33): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ELL2_chr5_95880098_95966851 | 95902917 | GACTACAG others(9): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02647.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0020a0002c0002t0001g0026a0002c0002t0001g0119others(5): Show | 8 | 314 | 0.0255 | -16 | c.742 others(33): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 5/11 | chr5 | TogoVar | ||||||
| ELL2_chr5_95880098_95966851 | 95920277 | ATATTTAT others(9): Show |
A | intron_variant | MODIFIER | HG02572.hp1 HG02723.hp1 HG02818.hp2 |
a0001a0005 | a0001c0003a0001c0005a0005c0011 | a0001c0003t0008a0001c0005t0008a0005c0011t0008 | a0001c0003t0008g0013a0001c0005t0008g0014a0005c0011t0008g0012 | 3 | 314 | 0.0096 | -16 | c.196 others(31): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
| ELL2_chr5_95880098_95966851 | 95927672 | TAGACATA others(9): Show |
T | intron_variant | MODIFIER | HG00642.hp1 HG02074.hp2 HG03654.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0161a0001c0001t0003g0168a0001c0001t0003g0171others(5): Show | 8 | 314 | 0.0255 | -16 | c.196 others(33): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 2/11 | chr5 | TogoVar | ||||||
| ELL2_chr5_95880098_95966851 | 95950898 | GTATGTGT others(9): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00673.hp2 HG00733.hp1 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0002a0002c0008others(2): Show | a0001c0003t0007a0002c0002t0001a0002c0002t0006others(3): Show | a0001c0003t0007g0019a0002c0002t0001g0103a0002c0002t0001g0105others(10): Show | 13 | 314 | 0.0414 | -16 | c.148 others(33): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
| ELL2_chr5_95880098_95966851 | 95950904 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0302 | 1 | 314 | 0.0032 | -16 | c.148 others(33): Show |
ELL2 | ENSG00000118985.16 | transcript | ENST00000237853.9 | protein_coding | 1/11 | chr5 | TogoVar | ||||||
| ELL3_chr15_43767620_43781966 | 43778581 | CAAAAAAA others(9): Show |
C | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0013 | 1 | 372 | 0.0027 | -16 | c.-16 others(27): Show |
ELL3 | ENSG00000128886.12 | transcript | ENST00000319359.8 | protein_coding | 1616 | chr15 | TogoVar | ||||||
| ELL_chr19_18437663_18527070 | 18467631 | CCACACAC others(9): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01081.hp2 others(38): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0011a0002c0002t0001others(4): Show | a0001c0001t0002g0005a0001c0001t0011g0115a0002c0002t0001g0012others(38): Show | 41 | 244 | 0.1680 | -16 | c.184 others(33): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 2/11 | chr19 | TogoVar | ||||||
| ELL_chr19_18437663_18527070 | 18509591 | GCGCACAT others(9): Show |
G | intron_variant | MODIFIER | HG01099.hp2 HG01433.hp2 HG02004.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0013a0003c0006 | a0001c0001t0001a0001c0013t0001a0003c0006t0001 | a0001c0001t0001g0219a0001c0001t0001g0222a0001c0001t0001g0232others(3): Show | 6 | 244 | 0.0246 | -16 | c.135 others(35): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| ELL_chr19_18437663_18527070 | 18509593 | GCACATAC others(9): Show |
G | intron_variant | MODIFIER | HG02300.hp2 HG02572.hp1 NA18985.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0180a0001c0001t0001g0218a0001c0001t0001g0239others(1): Show | 4 | 244 | 0.0164 | -16 | c.135 others(35): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| ELL_chr19_18437663_18527070 | 18509598 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG02109.hp1 HG02451.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019a0001c0001t0003g0020a0001c0001t0003g0021others(1): Show | 4 | 244 | 0.0164 | -16 | c.135 others(35): Show |
ELL | ENSG00000105656.13 | transcript | ENST00000262809.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| ELMO1_chr7_36847906_37453864 | 37104010 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 92 | 0.0109 | -16 | c.119 others(35): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 14/21 | chr7 | TogoVar | ||||||
| ELMO1_chr7_36847906_37453864 | 37147754 | TACACAAG others(9): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG02559.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0001a0001c0003t0002others(1): Show | a0001c0001t0004g0063a0001c0002t0001g0071a0001c0003t0002g0076others(3): Show | 6 | 92 | 0.0652 | -16 | c.108 others(37): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 13/21 | chr7 | TogoVar | ||||||
| ELMO1_chr7_36847906_37453864 | 37161905 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02027.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0006g0008a0001c0002t0001g0052a0001c0002t0002g0049others(2): Show | 5 | 92 | 0.0544 | -16 | c.108 others(37): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 13/21 | chr7 | TogoVar | ||||||
| ELMO1_chr7_36847906_37453864 | 37188439 | CACACACA others(9): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 92 | 0.0109 | -16 | c.108 others(37): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 13/21 | chr7 | TogoVar | ||||||
| ELMO1_chr7_36847906_37453864 | 37256535 | GAAGGAAA others(9): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG03098.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0030a0001c0001t0005g0006a0001c0001t0006g0004 | 3 | 92 | 0.0326 | -16 | c.413 others(33): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 6/21 | chr7 | TogoVar | ||||||
| ELMO1_chr7_36847906_37453864 | 37267038 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | HG02717.hp1 HG02965.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006 | a0001c0001t0004g0007a0001c0001t0005g0075a0001c0001t0006g0008 | 3 | 92 | 0.0326 | -16 | c.243 others(33): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 5/21 | chr7 | TogoVar | ||||||
| ELMO1_chr7_36847906_37453864 | 37391046 | TCCTTCCT others(9): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01978.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006 | a0001c0002t0003g0028a0001c0002t0006g0021 | 2 | 92 | 0.0217 | -16 | c.-73 others(35): Show |
ELMO1 | ENSG00000155849.16 | transcript | ENST00000310758.9 | protein_coding | 1/21 | chr7 | TogoVar | ||||||
| ELMO2_chr20_46361050_46411615 | 46369959 | GGGGTGTG others(9): Show |
G | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 312 | 0.0032 | -16 | c.188 others(33): Show |
ELMO2 | ENSG00000062598.18 | transcript | ENST00000290246.11 | protein_coding | 20/21 | chr20 | TogoVar | ||||||
| ELMOD1_chr11_107586147_107671779 | 107590332 | TTCTCTCT others(9): Show |
T | upstream_gene_variant | MODIFIER | HG02083.hp2 HG02723.hp1 HG03139.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0004others(1): Show | a0001c0001t0002g0048a0001c0001t0003g0331a0001c0002t0004g0252others(2): Show | 5 | 342 | 0.0146 | -16 | c.-11 others(27): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 814 | chr11 | TogoVar | ||||||
| ELMOD1_chr11_107586147_107671779 | 107646943 | AATCTATC others(9): Show |
A | intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 342 | 0.0029 | -16 | c.421 others(31): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| ELMOD1_chr11_107586147_107671779 | 107665962 | AAAATAAA others(9): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01891.hp2 HG02135.hp2 HG03486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0026a0001c0002t0012 | a0001c0001t0026g0234a0001c0002t0012g0092a0001c0002t0012g0111others(2): Show | 5 | 342 | 0.0146 | -16 | c.*80 others(25): Show |
ELMOD1 | ENSG00000110675.13 | transcript | ENST00000265840.12 | protein_coding | 12/12 | 805 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
| ELMOD2_chr4_140519168_140558770 | 140535137 | TTCTCTCT others(9): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0175a0001c0001t0004g0033 | 3 | 370 | 0.0081 | -16 | c.172 others(31): Show |
ELMOD2 | ENSG00000179387.10 | transcript | ENST00000323570.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ELN_chr7_74023173_74074907 | 74058207 | CCTTCTTC others(9): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG03195.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0188a0002c0002t0001g0117 | 2 | 366 | 0.0055 | -16 | c.141 others(33): Show |
ELN | ENSG00000049540.19 | transcript | ENST00000252034.12 | protein_coding | 22/32 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ELOA_chr1_23738471_23767059 | 23746642 | CCTGTGTT others(9): Show |
C | intron_variant | MODIFIER | NA18966.hp1 NA18983.hp1 NA19005.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0035a0001c0001t0001g0036a0001c0001t0012g0036 | 4 | 400 | 0.0100 | -16 | c.76- others(31): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ELOA_chr1_23738471_23767059 | 23750170 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG02451.hp1 others(9): Show |
a0001a0005 | a0001c0005a0005c0008 | a0001c0005t0001a0005c0008t0001 | a0001c0005t0001g0004a0001c0005t0001g0055a0001c0005t0001g0056others(3): Show | 12 | 400 | 0.0300 | -16 | c.239 others(31): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ELOA_chr1_23738471_23767059 | 23758251 | ATTTATTT others(9): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0194a0001c0001t0001g0197a0001c0001t0002g0206others(2): Show | 5 | 400 | 0.0125 | -16 | c.225 others(35): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ELOA_chr1_23738471_23767059 | 23765206 | ATTTTTTT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG01069.hp1 HG02165.hp1 NA19030.hp2 |
a0001a0003 | a0001c0002a0001c0009a0003c0004 | a0001c0002t0001a0001c0009t0008a0003c0004t0014 | a0001c0002t0001g0093a0001c0009t0008g0070a0003c0004t0014g0069 | 3 | 400 | 0.0075 | -16 | c.*56 others(27): Show |
ELOA | ENSG00000011007.13 | transcript | ENST00000613537.5 | protein_coding | 3148 | chr1 | TogoVar | ||||||
| ELOF1_chr19_11548046_11564230 | 11553582 | TACACACA others(9): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01257.hp1 HG02258.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0033 | a0001c0001t0013g0014a0001c0001t0013g0108a0001c0001t0033g0047 | 9 | 412 | 0.0218 | -16 | c.*14 others(25): Show |
ELOF1 | ENSG00000130165.11 | transcript | ENST00000252445.8 | protein_coding | 4/4 | 148 | chr19 | TogoVar | |||||
| ELOVL5_chr6_53262404_53353950 | 53319270 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02970.hp1 HG03486.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0040a0001c0001t0001g0142 | 3 | 320 | 0.0094 | -16 | c.-8- others(33): Show |
ELOVL5 | ENSG00000012660.14 | transcript | ENST00000304434.11 | protein_coding | 1/7 | chr6 | TogoVar | ||||||
| ELOVL6_chr4_110040846_110203615 | 110084203 | ATATATAA others(9): Show |
A | intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 | 1 | 338 | 0.0030 | -16 | c.221 others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
| ELOVL6_chr4_110040846_110203615 | 110084531 | TACACACA others(9): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0254 | 1 | 338 | 0.0030 | -16 | c.221 others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
| ELOVL6_chr4_110040846_110203615 | 110084580 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG02004.hp2 HG02258.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0069 | a0001c0001t0001g0121a0001c0001t0001g0260a0001c0001t0006g0016others(1): Show | 4 | 338 | 0.0118 | -16 | c.221 others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
| ELOVL6_chr4_110040846_110203615 | 110084582 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG02148.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0008a0001c0002t0030 | a0001c0001t0004g0020a0001c0001t0004g0299a0001c0001t0008g0009others(1): Show | 4 | 338 | 0.0118 | -16 | c.221 others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
| ELOVL6_chr4_110040846_110203615 | 110084584 | ATATATTT others(9): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01123.hp1 HG01515.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0035a0001c0001t0079 | a0001c0001t0008g0028a0001c0001t0008g0029a0001c0001t0008g0030others(5): Show | 8 | 338 | 0.0237 | -16 | c.221 others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
| ELOVL6_chr4_110040846_110203615 | 110094404 | AATATATA others(9): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02615.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0009others(3): Show | a0001c0001t0002g0159a0001c0001t0007g0048a0001c0001t0007g0078others(12): Show | 15 | 338 | 0.0444 | -16 | c.221 others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
| ELOVL6_chr4_110040846_110203615 | 110094429 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0060a0001c0001t0033g0169 | 2 | 338 | 0.0059 | -16 | c.221 others(35): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 2/3 | chr4 | TogoVar | ||||||
| ELOVL6_chr4_110040846_110203615 | 110147780 | GACACACA others(9): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01109.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0263a0001c0001t0001g0305a0001c0001t0002g0302others(26): Show | 29 | 338 | 0.0858 | -16 | c.90- others(33): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
| ELOVL6_chr4_110040846_110203615 | 110167653 | TTATGTAT others(9): Show |
T | intron_variant | MODIFIER | HG00438.hp2 NA19000.hp2 NA19060.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0010 | a0001c0001t0003g0313a0001c0001t0010g0269a0001c0001t0010g0317others(1): Show | 4 | 338 | 0.0118 | -16 | c.89+ others(33): Show |
ELOVL6 | ENSG00000170522.10 | transcript | ENST00000302274.8 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
| ELOVL7_chr5_60746791_60849269 | 60802061 | CATATATA others(9): Show |
C | intron_variant | MODIFIER | HG03831.hp1 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0208a0001c0001t0002g0213 | 2 | 258 | 0.0078 | -16 | c.-85 others(33): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
| ELOVL7_chr5_60746791_60849269 | 60802103 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0033 | 1 | 258 | 0.0039 | -16 | c.-85 others(33): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
| ELOVL7_chr5_60746791_60849269 | 60807992 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02647.hp2 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0132a0001c0001t0008g0133a0001c0001t0008g0134others(4): Show | 7 | 258 | 0.0271 | -16 | c.-85 others(33): Show |
ELOVL7 | ENSG00000164181.14 | transcript | ENST00000508821.6 | protein_coding | 1/8 | chr5 | TogoVar | ||||||
| ELP1_chr9_108862517_108939124 | 108872804 | GAAAAAAA others(9): Show |
G | intron_variant | MODIFIER | HG03688.hp1 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050a0001c0001t0003g0056 | 2 | 416 | 0.0048 | -16 | c.393 others(35): Show |
ELP1 | ENSG00000070061.16 | transcript | ENST00000374647.10 | protein_coding | 36/36 | chr9 | TogoVar | ||||||
| ELP2_chr18_36124899_36185557 | 36133897 | GTTTTTTT others(9): Show |
G | intron_variant | MODIFIER | HG02896.hp1 HG02965.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0039 | a0001c0001t0011g0258a0001c0001t0011g0263a0001c0001t0039g0257 | 3 | 378 | 0.0079 | -16 | c.217 others(31): Show |
ELP2 | ENSG00000134759.14 | transcript | ENST00000358232.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |