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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EDIL3_chr5_83935554_84389880 | 84371448 | TATAGAGA others(3): Show |
T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0104 | 1 | 158 | 0.0063 | -10 | c.67+ others(27): Show |
EDIL3 | ENSG00000164176.13 | transcript | ENST00000296591.10 | protein_coding | 1/10 | chr5 | TogoVar | ||||||
EDN1_chr6_12285361_12302194 | 12287710 | TCTCACAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00621.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0006g0001 | 5 | 452 | 0.0111 | -10 | c.-29 others(21): Show |
EDN1 | ENSG00000078401.7 | transcript | ENST00000379375.6 | protein_coding | 2650 | chr6 | TogoVar | ||||||
EDN1_chr6_12285361_12302194 | 12287712 | TCACACAC others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01192.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0006t0001g0090 | 4 | 452 | 0.0089 | -10 | c.-29 others(21): Show |
EDN1 | ENSG00000078401.7 | transcript | ENST00000379375.6 | protein_coding | 2648 | chr6 | TogoVar | ||||||
EDN2_chr1_41473775_41489683 | 41479807 | TCTTTCCA others(3): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 | 1 | 442 | 0.0023 | -10 | c.444 others(25): Show |
EDN2 | ENSG00000127129.10 | transcript | ENST00000372587.5 | protein_coding | 4/4 | chr1 | TogoVar | ||||||
EDN2_chr1_41473775_41489683 | 41484680 | GCTCATTG others(3): Show |
G | 5_prime_UTR_variant | MODIFIER | NA19056.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0071 | 1 | 442 | 0.0023 | -10 | c.-89 others(17): Show |
EDN2 | ENSG00000127129.10 | transcript | ENST00000372587.5 | protein_coding | 1/5 | 80 | chr1 | TogoVar | |||||
EDN2_chr1_41473775_41489683 | 41486037 | TATTCAGC others(3): Show |
T | upstream_gene_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 442 | 0.0023 | -10 | c.-14 others(21): Show |
EDN2 | ENSG00000127129.10 | transcript | ENST00000372587.5 | protein_coding | 1355 | chr1 | TogoVar | ||||||
EDNRA_chr4_147476097_147549954 | 147505327 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02258.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0007a0001c0002t0012 | a0001c0001t0002g0104a0001c0002t0007g0106a0001c0002t0007g0107others(3): Show | 6 | 280 | 0.0214 | -10 | c.421 others(29): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EDNRA_chr4_147476097_147549954 | 147541067 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02886.hp1 HG03098.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0100a0001c0002t0012g0101a0001c0002t0012g0102others(2): Show | 5 | 280 | 0.0179 | -10 | c.114 others(27): Show |
EDNRA | ENSG00000151617.17 | transcript | ENST00000651419.1 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
EDNRB_chr13_77890487_77923831 | 77912316 | TTGAACCT others(3): Show |
T | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0132 | 1 | 406 | 0.0025 | -10 | c.483 others(27): Show |
EDNRB | ENSG00000136160.17 | transcript | ENST00000646607.2 | protein_coding | 1/6 | chr13 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92848722 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG02723.hp1 HG03041.hp1 others(8): Show |
a0004a0005 | a0004c0006a0005c0007 | a0004c0006t0008a0004c0006t0021a0004c0006t0022others(1): Show | a0004c0006t0008g0002a0004c0006t0008g0006a0004c0006t0008g0007others(8): Show | 11 | 244 | 0.0451 | -10 | c.798 others(27): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 9/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92865714 | TTTTTATT others(3): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01168.hp2 HG02717.hp2 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0013a0001c0002t0003a0002c0004t0031others(5): Show | a0001c0001t0013g0138a0001c0002t0003g0039a0002c0004t0031g0199others(12): Show | 15 | 244 | 0.0615 | -10 | c.118 others(25): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 2/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92869752 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 244 | 0.0041 | -10 | c.118 others(27): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 2/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92895133 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01168.hp1 HG01175.hp2 others(17): Show |
a0001a0002 | a0001c0012a0002c0003a0002c0004others(1): Show | a0001c0012t0006a0002c0003t0002a0002c0003t0004others(4): Show | a0001c0012t0006g0157a0002c0003t0002g0013a0002c0003t0002g0153others(17): Show | 20 | 244 | 0.0820 | -10 | c.25- others(25): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92898731 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0181 | 1 | 244 | 0.0041 | -10 | c.25- others(25): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEA1_chr12_92765637_92934295 | 92922959 | AAAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0023 | 1 | 244 | 0.0041 | -10 | c.24+ others(25): Show |
EEA1 | ENSG00000102189.17 | transcript | ENST00000322349.13 | protein_coding | 1/28 | chr12 | TogoVar | ||||||
EEF1A1_chr6_73510750_73526032 | 73519525 | ATTAAGAG others(3): Show |
A | intron_variant | MODIFIER | NA18950.hp2 NA18980.hp1 NA18983.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 4 | 424 | 0.0094 | -10 | c.145 others(23): Show |
EEF1A1 | ENSG00000156508.19 | transcript | ENST00000309268.11 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
EEF1AKMT1_chr13_20723731_20778961 | 20764880 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | NA18954.hp1 NA18974.hp1 NA19005.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0065a0001c0001t0001g0104others(1): Show | 5 | 348 | 0.0144 | -10 | c.-19 others(27): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 1/4 | chr13 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124774374 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0152 | 1 | 358 | 0.0028 | -10 | c.399 others(25): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
EEF1AKMT2_chr10_124752834_124796887 | 124792504 | GTTTGTTT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 358 | 0.0028 | -10 | c.-68 others(19): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 618 | chr10 | TogoVar | ||||||
EEF1AKMT3_chr12_57767614_57787541 | 57784916 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 362 | 0.0028 | -10 | c.*42 others(21): Show |
EEF1AKMT3 | ENSG00000123427.17 | transcript | ENST00000300209.13 | protein_coding | 2376 | chr12 | TogoVar | ||||||
EEF1AKMT4_chr3_184244672_184263759 | 184262114 | TCTGAGTG others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0006 | 1 | 378 | 0.0027 | -10 | c.*35 others(21): Show |
EEF1AKMT4 | ENSG00000284753.2 | transcript | ENST00000324557.9 | protein_coding | 3356 | chr3 | TogoVar | ||||||
EEF1AKMT4_chr3_184244672_184263759 | 184263637 | AAGAGAGA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00558.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0102a0001c0001t0001g0103others(13): Show | 28 | 378 | 0.0741 | -10 | c.*50 others(21): Show |
EEF1AKMT4 | ENSG00000284753.2 | transcript | ENST00000324557.9 | protein_coding | 4879 | chr3 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8099751 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0341a0001c0001t0001g0371 | 2 | 442 | 0.0045 | -10 | c.88- others(25): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EEF1E1_chr6_8074395_8107548 | 8101243 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01168.hp1 HG01256.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0026a0001c0001t0001g0031others(12): Show | 21 | 442 | 0.0475 | -10 | c.87+ others(25): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | ||||||
EEF2K_chr16_22201278_22293738 | 22236934 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG03239.hp2 HG03490.hp2 |
a0001a0008 | a0001c0002a0008c0011 | a0001c0002t0001a0001c0002t0004a0008c0011t0013 | a0001c0002t0001g0198a0001c0002t0004g0211a0008c0011t0013g0197 | 3 | 290 | 0.0103 | -10 | c.247 others(27): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF2K_chr16_22201278_22293738 | 22244269 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02630.hp2 HG02723.hp2 others(6): Show |
a0003 | a0003c0004a0003c0017 | a0003c0004t0008a0003c0017t0008 | a0003c0004t0008g0033a0003c0004t0008g0034a0003c0004t0008g0035others(6): Show | 9 | 290 | 0.0310 | -10 | c.247 others(25): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEF2K_chr16_22201278_22293738 | 22247037 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02895.hp2 HG03130.hp1 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0009a0003c0005t0011 | a0001c0001t0009g0048a0003c0005t0011g0282a0003c0005t0011g0284 | 3 | 290 | 0.0103 | -10 | c.348 others(27): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
EEIG1_chr9_127935582_127985989 | 127984524 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 342 | 0.0029 | -10 | c.-43 others(21): Show |
EEIG1 | ENSG00000167106.12 | transcript | ENST00000373095.6 | protein_coding | 3536 | chr9 | TogoVar | ||||||
EEIG2_chr1_108555100_108644322 | 108584228 | AACATGAT others(3): Show |
A | intron_variant | MODIFIER | NA19030.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0035 | a0001c0001t0031g0146a0001c0001t0035g0147 | 2 | 272 | 0.0074 | -10 | c.138 others(29): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EEIG2_chr1_108555100_108644322 | 108586314 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02015.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0016 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0047others(14): Show | 17 | 272 | 0.0625 | -10 | c.138 others(29): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EEIG2_chr1_108555100_108644322 | 108620337 | AATTATAT others(3): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00639.hp1 others(138): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(137): Show | 141 | 272 | 0.5184 | -10 | c.452 others(27): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EEIG2_chr1_108555100_108644322 | 108625774 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00738.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0016others(24): Show | 27 | 272 | 0.0993 | -10 | c.556 others(27): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36150966 | TGTGTGTG others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00642.hp2 others(59): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0086a0001c0001t0001g0092a0001c0001t0001g0259others(59): Show | 62 | 346 | 0.1792 | -10 | c.-29 others(21): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2287 | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36168654 | AGGCTAAG others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(29): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0242a0001c0001t0001g0243a0001c0001t0002g0322others(29): Show | 32 | 346 | 0.0925 | -10 | c.878 others(29): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36219775 | AAGAGAGA others(3): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG02723.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0006a0001c0001t0015others(3): Show | a0001c0001t0004g0191a0001c0001t0006g0104a0001c0001t0006g0178others(6): Show | 9 | 346 | 0.0260 | -10 | c.879 others(29): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36219798 | AGAGAGAG others(3): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0003 | a0002c0003t0060 | a0002c0003t0060g0103 | 1 | 346 | 0.0029 | -10 | c.879 others(29): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36219804 | AGAGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG01081.hp1 others(48): Show |
a0001 | a0001c0001a0001c0004a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0082a0001c0001t0001g0113a0001c0001t0001g0117others(48): Show | 51 | 346 | 0.1474 | -10 | c.879 others(29): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36219806 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02818.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0024 | a0001c0001t0009g0213a0001c0001t0024g0255a0001c0001t0024g0326 | 3 | 346 | 0.0087 | -10 | c.879 others(29): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36271798 | CCTATTCT others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG00741.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0102a0001c0001t0001g0115a0001c0001t0001g0150others(32): Show | 35 | 346 | 0.1012 | -10 | c.931 others(27): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36271874 | CTATTCTA others(3): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0176 | 1 | 346 | 0.0029 | -10 | c.931 others(27): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EEPD1_chr7_36148254_36306538 | 36292473 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02293.hp1 NA20805.hp2 |
a0001a0003 | a0001c0004a0003c0002 | a0001c0004t0065a0003c0002t0017a0003c0002t0040 | a0001c0004t0065g0233a0003c0002t0017g0035a0003c0002t0040g0041 | 3 | 346 | 0.0087 | -10 | c.131 others(29): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
EFCAB10_chr7_105560124_105586493 | 105570211 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 428 | 0.0023 | -10 | c.107 others(25): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89835585 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp2 HG03130.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0001g0232a0001c0001t0001g0233a0001c0001t0005g0092others(6): Show | 9 | 284 | 0.0317 | -10 | c.411 others(29): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89842597 | AATATGAT others(3): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG00735.hp2 others(79): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0046a0001c0001t0001g0068a0001c0001t0001g0120others(79): Show | 82 | 284 | 0.2887 | -10 | c.411 others(29): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89856184 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02451.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0024others(11): Show | a0001c0001t0001g0045a0001c0001t0001g0046a0001c0001t0001g0150others(15): Show | 18 | 284 | 0.0634 | -10 | c.411 others(29): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89885685 | AAGAGAGA others(3): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG03195.hp2 NA18968.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0010 | a0001c0001t0001g0232a0001c0001t0001g0233a0001c0001t0007g0234others(2): Show | 5 | 284 | 0.0176 | -10 | c.410 others(29): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89917053 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02976.hp1 HG03654.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0004g0171a0001c0001t0004g0172a0001c0001t0004g0173others(4): Show | 7 | 284 | 0.0247 | -10 | c.410 others(29): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89917088 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01433.hp1 HG02055.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0010a0001c0003t0001others(13): Show | a0001c0001t0002g0114a0001c0001t0010g0236a0001c0003t0001g0011others(20): Show | 23 | 284 | 0.0810 | -10 | c.410 others(29): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB11_chr14_89789669_89959730 | 89919194 | GAGAGAGA others(3): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0196 | 1 | 284 | 0.0035 | -10 | c.410 others(29): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | ||||||
EFCAB12_chr3_129396321_129433636 | 129400120 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG02280.hp2 HG02572.hp1 others(3): Show |
a0001a0013 | a0001c0001a0001c0007a0001c0020others(1): Show | a0001c0001t0001a0001c0007t0001a0001c0020t0001others(1): Show | a0001c0001t0001g0183a0001c0001t0001g0242a0001c0007t0001g0239others(3): Show | 6 | 386 | 0.0155 | -10 | c.*14 others(21): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 1200 | chr3 | TogoVar |