view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EEF1AKMT1_chr13_20723731_20778961 | 20764880 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01891.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0017a0001c0001t0001g0052a0001c0001t0001g0054others(21): Show | 24 | 348 | 0.0690 | 8 | c.-19 others(25): Show |
EEF1AKMT1 | ENSG00000150456.11 | transcript | ENST00000382758.6 | protein_coding | 1/4 | chr13 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124757166 | C | CCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01106.hp2 HG03490.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0055a0001c0001t0002g0056a0001c0001t0002g0060others(2): Show | 5 | 358 | 0.0140 | 8 | c.*33 others(19): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 667 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124769248 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01099.hp1 HG01168.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0106a0001c0001t0002g0056a0001c0001t0002g0060others(9): Show | 12 | 358 | 0.0335 | 8 | c.400 others(25): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124774406 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01192.hp2 HG02083.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172a0001c0001t0001g0174a0001c0001t0001g0175others(9): Show | 12 | 358 | 0.0335 | 8 | c.399 others(23): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 4/6 | chr10 | TogoVar | |||||||
EEF1AKMT2_chr10_124752834_124796887 | 124788710 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03486.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0005t0006 | a0001c0001t0006g0157a0001c0001t0006g0158a0001c0001t0006g0348others(1): Show | 4 | 358 | 0.0112 | 8 | c.291 others(23): Show |
EEF1AKMT2 | ENSG00000203791.15 | transcript | ENST00000368836.7 | protein_coding | 3/6 | chr10 | TogoVar | |||||||
EEF1AKMT4_chr3_184244672_184263759 | 184263637 | A | AAGAGAGA others(1): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01361.hp1 HG02071.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0139others(4): Show | 12 | 378 | 0.0318 | 8 | c.*50 others(19): Show |
EEF1AKMT4 | ENSG00000284753.2 | transcript | ENST00000324557.9 | protein_coding | 4879 | chr3 | TogoVar | |||||||
EEF1E1_chr6_8074395_8107548 | 8099751 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG02080.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125a0001c0001t0001g0165a0001c0001t0001g0193others(8): Show | 11 | 442 | 0.0249 | 8 | c.88- others(23): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
EEF1E1_chr6_8074395_8107548 | 8101243 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01928.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0076a0001c0001t0001g0077others(3): Show | 6 | 442 | 0.0136 | 8 | c.87+ others(23): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
EEF1E1_chr6_8074395_8107548 | 8101243 | A | AAAAAATA others(1): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01978.hp2 HG03491.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0070a0001c0001t0001g0071others(2): Show | 6 | 442 | 0.0136 | 8 | c.87+ others(23): Show |
EEF1E1 | ENSG00000124802.12 | transcript | ENST00000379715.10 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
EEF2K_chr16_22201278_22293738 | 22289211 | T | TAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG02056.hp1 HG02258.hp2 HG02630.hp2 others(13): Show |
a0001a0003a0009 | a0001c0001a0001c0002a0003c0004others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0034others(5): Show | a0001c0001t0002g0004a0001c0001t0002g0052a0001c0001t0002g0059others(13): Show | 16 | 290 | 0.0552 | 8 | c.*52 others(19): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 474 | chr16 | TogoVar | |||||||
EEF2K_chr16_22201278_22293738 | 22289375 | C | CAAATAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp1 others(66): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(18): Show | a0001c0001t0001g0064a0001c0001t0001g0070a0001c0001t0001g0076others(64): Show | 69 | 290 | 0.2379 | 8 | c.*53 others(19): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 638 | chr16 | TogoVar | |||||||
EEF2K_chr16_22201278_22293738 | 22292518 | T | TACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 HG02630.hp2 NA21309.hp2 |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0004a0001c0002t0004a0003c0004t0008 | a0001c0001t0004g0080a0001c0002t0004g0180a0003c0004t0008g0033 | 3 | 290 | 0.0103 | 8 | c.*85 others(19): Show |
EEF2K | ENSG00000103319.12 | transcript | ENST00000263026.10 | protein_coding | 3781 | chr16 | TogoVar | |||||||
EEF2_chr19_3971056_3990463 | 3978803 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(53): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0015 | a0001c0001t0001a0001c0006t0002a0003c0015t0001 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0035others(11): Show | 56 | 403 | 0.1390 | 8 | c.171 others(25): Show |
EEF2 | ENSG00000167658.16 | transcript | ENST00000309311.7 | protein_coding | 11/14 | chr19 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128152986 | C | CCCCGTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG01074.hp2 HG01081.hp2 others(29): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0011 | a0001c0001t0001a0001c0006t0001a0004c0011t0001 | a0001c0001t0001g0220a0001c0001t0001g0222a0001c0001t0001g0225others(29): Show | 32 | 272 | 0.1177 | 8 | c.-52 others(17): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 494 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128235940 | A | AGGTTGGT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02896.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0162a0001c0001t0001g0179others(1): Show | 4 | 272 | 0.0147 | 8 | c.317 others(27): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128235941 | G | GGTTTGTT others(1): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02280.hp2 NA18962.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0031a0001c0001t0001g0145a0001c0001t0001g0146others(3): Show | 6 | 272 | 0.0221 | 8 | c.317 others(27): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
EEFSEC_chr3_128148481_128413646 | 128293672 | A | ACAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03471.hp1 HG03486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0068a0001c0001t0001g0106a0001c0001t0001g0108others(4): Show | 7 | 272 | 0.0257 | 8 | c.786 others(27): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
EEFSEC_chr3_128148481_128413646 | 128293679 | A | ACAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01928.hp1 HG02109.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0117others(6): Show | 9 | 272 | 0.0331 | 8 | c.786 others(27): Show |
EEFSEC | ENSG00000132394.11 | transcript | ENST00000254730.11 | protein_coding | 4/6 | chr3 | TogoVar | |||||||
EEIG2_chr1_108555100_108644322 | 108625774 | C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0019 | a0001c0001t0002g0188a0001c0001t0007g0189a0001c0001t0007g0237others(2): Show | 5 | 272 | 0.0184 | 8 | c.556 others(25): Show |
EEIG2 | ENSG00000162636.16 | transcript | ENST00000370035.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36165586 | A | AATTTATT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00609.hp2 others(52): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0184a0001c0001t0001g0256a0001c0001t0001g0257others(52): Show | 55 | 346 | 0.1590 | 8 | c.878 others(27): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36219457 | T | TGAGCCCA others(1): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02109.hp1 HG02572.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0014 | a0001c0001t0010a0001c0001t0039a0001c0010t0025others(1): Show | a0001c0001t0010g0105a0001c0001t0039g0002a0001c0010t0025g0060others(1): Show | 4 | 346 | 0.0116 | 8 | c.879 others(27): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36219804 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01515.hp1 HG02135.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0271a0001c0001t0001g0275a0001c0001t0002g0267others(10): Show | 13 | 346 | 0.0376 | 8 | c.879 others(27): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36219806 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01981.hp2 HG02027.hp1 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0006a0001c0001t0018others(2): Show | a0001c0001t0003g0112a0001c0001t0003g0337a0001c0001t0006g0336others(6): Show | 9 | 346 | 0.0260 | 8 | c.879 others(27): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36223153 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00733.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0256a0001c0001t0002g0237a0001c0001t0004g0230others(14): Show | 17 | 346 | 0.0491 | 8 | c.879 others(27): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36248994 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG00738.hp1 others(36): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0152a0001c0001t0001g0257a0001c0001t0001g0268others(36): Show | 39 | 346 | 0.1127 | 8 | c.930 others(25): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EEPD1_chr7_36148254_36306538 | 36273129 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00673.hp2 others(45): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0086a0001c0001t0001g0115a0001c0001t0001g0152others(45): Show | 48 | 346 | 0.1387 | 8 | c.931 others(25): Show |
EEPD1 | ENSG00000122547.12 | transcript | ENST00000242108.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EFCAB10_chr7_105560124_105586493 | 105572310 | G | GTGATTTA others(1): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01934.hp1 HG01943.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0094a0001c0001t0001g0104others(2): Show | 7 | 428 | 0.0164 | 8 | c.107 others(25): Show |
EFCAB10 | ENSG00000185055.11 | transcript | ENST00000480514.6 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89800188 | T | TAAACAAA others(1): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02738.hp1 HG03710.hp2 others(9): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0002t0043others(3): Show | a0001c0002t0002g0243a0001c0002t0003g0181a0001c0002t0003g0183others(9): Show | 12 | 284 | 0.0423 | 8 | c.411 others(25): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89835585 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00735.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0077a0001c0001t0001g0127a0001c0001t0001g0142others(19): Show | 22 | 284 | 0.0775 | 8 | c.411 others(27): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB11_chr14_89789669_89959730 | 89910598 | A | AATACATA others(1): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02698.hp1 HG02698.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0076a0001c0001t0001g0139a0001c0001t0002g0148others(5): Show | 8 | 284 | 0.0282 | 8 | c.410 others(27): Show |
EFCAB11 | ENSG00000140025.16 | transcript | ENST00000316738.12 | protein_coding | 5/5 | chr14 | TogoVar | |||||||
EFCAB12_chr3_129396321_129433636 | 129412428 | G | GGATGGAT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG03669.hp1 NA18612.hp2 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0018a0003c0003t0002g0173a0003c0003t0002g0175 | 5 | 386 | 0.0130 | 8 | c.839 others(25): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
EFCAB12_chr3_129396321_129433636 | 129412475 | T | TAGACAGA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01257.hp1 HG02622.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0140a0002c0002t0001g0141a0002c0002t0001g0227others(2): Show | 5 | 386 | 0.0130 | 8 | c.839 others(25): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
EFCAB12_chr3_129396321_129433636 | 129416418 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02572.hp2 others(3): Show |
a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0010a0008c0009t0001g0048a0008c0009t0001g0049 | 6 | 386 | 0.0155 | 8 | c.682 others(25): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 3/8 | chr3 | TogoVar | |||||||
EFCAB13_chr17_47318955_47446312 | 47325923 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01243.hp1 HG01346.hp2 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0013a0002c0002others(6): Show | a0001c0001t0001a0001c0013t0001a0002c0002t0003others(9): Show | a0001c0001t0001g0019a0001c0001t0001g0105a0001c0001t0001g0108others(25): Show | 28 | 356 | 0.0787 | 8 | c.-24 others(25): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47351279 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01069.hp2 HG01071.hp2 others(39): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0006a0001c0015others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0006t0001others(8): Show | a0001c0001t0001g0016a0001c0001t0001g0084a0001c0001t0001g0087others(39): Show | 42 | 356 | 0.1180 | 8 | c.661 others(25): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47390914 | G | GTCTATCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp1 others(68): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0025others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(5): Show | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0016others(68): Show | 71 | 356 | 0.1994 | 8 | c.158 others(25): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47393717 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(19): Show |
a0002a0003a0005others(2): Show | a0002c0010a0003c0008a0005c0005others(2): Show | a0002c0010t0001a0003c0008t0004a0005c0005t0001others(4): Show | a0002c0010t0001g0267a0002c0010t0001g0268a0002c0010t0001g0269others(19): Show | 22 | 356 | 0.0618 | 8 | c.172 others(25): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB13_chr17_47318955_47446312 | 47432399 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00673.hp2 others(83): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(7): Show | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0076others(83): Show | 86 | 356 | 0.2416 | 8 | c.263 others(27): Show |
EFCAB13 | ENSG00000178852.16 | transcript | ENST00000331493.7 | protein_coding | 24/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB14_chr1_46670159_46724114 | 46700986 | A | AGTGAGTG others(1): Show |
intron_variant | MODIFIER | HG01952.hp2 HG03654.hp1 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239a0001c0001t0001g0261a0001c0001t0001g0262 | 3 | 374 | 0.0080 | 8 | c.481 others(25): Show |
EFCAB14 | ENSG00000159658.15 | transcript | ENST00000371933.8 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
EFCAB14_chr1_46670159_46724114 | 46700986 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00597.hp1 others(67): Show |
a0001a0002 | a0001c0001a0002c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(2): Show | a0001c0001t0002g0025a0001c0001t0002g0089a0001c0001t0003g0004others(50): Show | 70 | 374 | 0.1872 | 8 | c.481 others(25): Show |
EFCAB14 | ENSG00000159658.15 | transcript | ENST00000371933.8 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
EFCAB2_chr1_244964682_245092837 | 244999797 | A | AGTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01981.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0137a0001c0002t0002g0158a0001c0002t0002g0159others(9): Show | 12 | 290 | 0.0414 | 8 | c.26- others(25): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 245044550 | G | GATTTATT others(1): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18747.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0201a0001c0001t0001g0235a0001c0001t0010g0236 | 3 | 290 | 0.0103 | 8 | c.111 others(27): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 245056935 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0121a0001c0001t0001g0122a0001c0001t0001g0127others(15): Show | 18 | 290 | 0.0621 | 8 | c.111 others(25): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
EFCAB2_chr1_244964682_245092837 | 245088315 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00738.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0054a0001c0001t0001g0088others(28): Show | 31 | 290 | 0.1069 | 8 | c.*95 others(17): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 479 | chr1 | TogoVar | |||||||
EFCAB2_chr1_244964682_245092837 | 245090455 | G | GTTCTCTG others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0128a0001c0001t0001g0129others(14): Show | 17 | 290 | 0.0586 | 8 | c.*30 others(19): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 2619 | chr1 | TogoVar | |||||||
EFCAB5_chr17_29936634_30113452 | 29970637 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00609.hp1 others(59): Show |
a0002a0009a0013others(1): Show | a0002c0002a0002c0005a0002c0016others(4): Show | a0002c0002t0002a0002c0002t0003a0002c0005t0002others(5): Show | a0002c0002t0002g0001a0002c0002t0002g0002a0002c0002t0002g0013others(58): Show | 62 | 248 | 0.2500 | 8 | c.767 others(25): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 29994133 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG01109.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0024a0002c0002others(1): Show | a0001c0001t0001a0001c0024t0004a0002c0002t0002others(1): Show | a0001c0001t0001g0203a0001c0001t0001g0206a0001c0001t0001g0207others(8): Show | 11 | 248 | 0.0444 | 8 | c.924 others(23): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 30041210 | A | AGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(20): Show |
a0001a0007a0012 | a0001c0001a0007c0009a0012c0023 | a0001c0001t0001a0007c0009t0002a0012c0023t0001 | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0115others(20): Show | 23 | 248 | 0.0927 | 8 | c.120 others(27): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB5_chr17_29936634_30113452 | 30055322 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02055.hp2 HG02280.hp2 others(11): Show |
a0001a0003a0005others(2): Show | a0001c0001a0003c0003a0003c0014others(3): Show | a0001c0001t0001a0003c0003t0002a0003c0014t0002others(3): Show | a0001c0001t0001g0114a0001c0001t0001g0117a0001c0001t0001g0123others(11): Show | 14 | 248 | 0.0565 | 8 | c.219 others(25): Show |
EFCAB5 | ENSG00000176927.16 | transcript | ENST00000394835.8 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
EFCAB6_chr22_43523778_43817305 | 43524509 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 NA19057.hp2 NA20905.hp2 |
a0001a0003a0007 | a0001c0001a0003c0003a0007c0014 | a0001c0001t0001a0003c0003t0001a0007c0014t0002 | a0001c0001t0001g0194a0003c0003t0001g0230a0007c0014t0002g0017 | 3 | 290 | 0.0103 | 8 | c.*43 others(19): Show |
EFCAB6 | ENSG00000186976.15 | transcript | ENST00000262726.12 | protein_coding | 4268 | chr22 | TogoVar |