| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ERICH1_chr8_659200_736224 | 700163 | GCGCACAG others(3): Show |
G | intron_variant | MODIFIER | HG01928.hp1 HG01943.hp1 HG01952.hp2 others(17): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0005t0001others(1): Show | a0001c0001t0001g0025a0001c0001t0001g0054a0001c0001t0001g0056others(17): Show | 20 | 378 | 0.0529 | -10 | c.170 others(27): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 700180 | GGCCCGCA others(3): Show |
G | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 378 | 0.0027 | -10 | c.170 others(27): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 700224 | CACGCGCA others(3): Show |
C | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0338 | 1 | 378 | 0.0027 | -10 | c.170 others(27): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 700227 | GCGCACAG others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(123): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0015others(120): Show | 126 | 378 | 0.3333 | -10 | c.170 others(27): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 700286 | CACAGGCC others(3): Show |
C | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01891.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0021a0001c0001t0001g0022others(3): Show | 8 | 378 | 0.0212 | -10 | c.170 others(27): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 700290 | GGCCCGGA others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00609.hp1 others(101): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0015others(98): Show | 104 | 378 | 0.2751 | -10 | c.170 others(27): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 708681 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp1 others(85): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0008 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(81): Show | 88 | 378 | 0.2328 | -10 | c.169 others(27): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 733546 | CAGACAGA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0272 | 1 | 378 | 0.0027 | -10 | c.-23 others(21): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2323 | chr8 | TogoVar | ||||||
| ERICH1_chr8_659200_736224 | 733550 | CAGAGAGA others(3): Show |
C | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 378 | 0.0027 | -10 | c.-23 others(21): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2327 | chr8 | TogoVar | ||||||
| ERICH5_chr8_98059568_98098609 | 98073450 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | NA18942.hp1 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 2 | 442 | 0.0045 | -10 | c.58+ others(25): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ERICH5_chr8_98059568_98098609 | 98085136 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 442 | 0.0023 | -10 | c.59- others(25): Show |
ERICH5 | ENSG00000177459.11 | transcript | ENST00000318528.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ERICH6B_chr13_45536294_45620739 | 45606499 | GTATGTGT others(3): Show |
G | intron_variant | MODIFIER | HG01943.hp1 NA18991.hp1 NA19240.hp2 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0006c0006t0002 | a0001c0001t0001g0107a0001c0001t0001g0189a0006c0006t0002g0150 | 3 | 326 | 0.0092 | -10 | c.-59 others(27): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 2/14 | chr13 | TogoVar | ||||||
| ERICH6B_chr13_45536294_45620739 | 45606543 | ATATATTT others(3): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 326 | 0.0031 | -10 | c.-59 others(27): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 2/14 | chr13 | TogoVar | ||||||
| ERICH6B_chr13_45536294_45620739 | 45620188 | GTTTTTTT others(3): Show |
G | upstream_gene_variant | MODIFIER | NA19009.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0152 | 1 | 326 | 0.0031 | -10 | c.-46 others(21): Show |
ERICH6B | ENSG00000165837.12 | transcript | ENST00000298738.3 | protein_coding | 4450 | chr13 | TogoVar | ||||||
| ERICH6_chr3_150654885_150708920 | 150655700 | GCGCACAC others(3): Show |
G | downstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0190 | 1 | 348 | 0.0029 | -10 | c.*41 others(21): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 4184 | chr3 | TogoVar | ||||||
| ERICH6_chr3_150654885_150708920 | 150679212 | TTTTATTT others(3): Show |
T | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0255 | 1 | 348 | 0.0029 | -10 | c.111 others(27): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 9/13 | chr3 | TogoVar | ||||||
| ERICH6_chr3_150654885_150708920 | 150701571 | AAGTTGCT others(3): Show |
A | intron_variant | MODIFIER | HG02723.hp1 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0156 | 1 | 348 | 0.0029 | -10 | c.461 others(25): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 2/13 | chr3 | TogoVar | ||||||
| ERICH6_chr3_150654885_150708920 | 150704808 | ATATATTA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00733.hp2 others(70): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0003a0002c0001others(8): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(9): Show | a0001c0002t0001g0010a0001c0002t0001g0207a0001c0002t0001g0217others(70): Show | 73 | 348 | 0.2098 | -10 | c.-92 others(19): Show |
ERICH6 | ENSG00000163645.15 | transcript | ENST00000295910.11 | protein_coding | 889 | chr3 | TogoVar | ||||||
| ERLEC1_chr2_53782044_53823796 | 53814995 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG01106.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0071a0001c0001t0002g0010a0001c0001t0002g0035others(3): Show | 10 | 374 | 0.0267 | -10 | c.138 others(25): Show |
ERLEC1 | ENSG00000068912.15 | transcript | ENST00000185150.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ERMAP_chr1_42812122_42849991 | 42832179 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0195 | 1 | 386 | 0.0026 | -10 | c.433 others(27): Show |
ERMAP | ENSG00000164010.15 | transcript | ENST00000372517.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| ERMP1_chr9_5779572_5838117 | 5819336 | AGCCAGGG others(3): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0176 | 1 | 378 | 0.0027 | -10 | c.874 others(27): Show |
ERMP1 | ENSG00000099219.15 | transcript | ENST00000339450.10 | protein_coding | 4/14 | chr9 | TogoVar | ||||||
| ERMP1_chr9_5779572_5838117 | 5834977 | ATGTGTGT others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01261.hp2 HG02818.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0005 | a0001c0002t0001g0139a0001c0002t0005g0078 | 2 | 378 | 0.0053 | -10 | c.-19 others(21): Show |
ERMP1 | ENSG00000099219.15 | transcript | ENST00000339450.10 | protein_coding | 1861 | chr9 | TogoVar | ||||||
| ERN1_chr17_64034142_64135144 | 64062963 | TACCTGGT others(3): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0022 | a0001c0001t0009a0001c0002t0006a0001c0022t0033 | a0001c0001t0009g0127a0001c0001t0009g0128a0001c0001t0009g0129others(4): Show | 7 | 234 | 0.0299 | -10 | c.108 others(29): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 10/21 | chr17 | TogoVar | ||||||
| ERN1_chr17_64034142_64135144 | 64086637 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0219 | 1 | 234 | 0.0043 | -10 | c.176 others(27): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 2/21 | chr17 | TogoVar | ||||||
| ERN1_chr17_64034142_64135144 | 64106715 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0169 | 1 | 234 | 0.0043 | -10 | c.55- others(25): Show |
ERN1 | ENSG00000178607.17 | transcript | ENST00000433197.4 | protein_coding | 1/21 | chr17 | TogoVar | ||||||
| ERN2_chr16_23685310_23718222 | 23697044 | GCCTGTCA others(3): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0274 | 1 | 412 | 0.0024 | -10 | c.152 others(29): Show |
ERN2 | ENSG00000134398.15 | transcript | ENST00000256797.9 | protein_coding | 13/21 | chr16 | TogoVar | ||||||
| ERN2_chr16_23685310_23718222 | 23708347 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02615.hp2 | a0003 | a0003c0011 | a0003c0011t0003 | a0003c0011t0003g0258 | 1 | 412 | 0.0024 | -10 | c.307 others(27): Show |
ERN2 | ENSG00000134398.15 | transcript | ENST00000256797.9 | protein_coding | 4/21 | chr16 | TogoVar | ||||||
| ERO1A_chr14_52634915_52700558 | 52645847 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0283 | 1 | 398 | 0.0025 | -10 | c.134 others(27): Show |
ERO1A | ENSG00000197930.13 | transcript | ENST00000395686.8 | protein_coding | 15/15 | chr14 | TogoVar | ||||||
| ERO1A_chr14_52634915_52700558 | 52647142 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0149 | 1 | 398 | 0.0025 | -10 | c.112 others(27): Show |
ERO1A | ENSG00000197930.13 | transcript | ENST00000395686.8 | protein_coding | 13/15 | chr14 | TogoVar | ||||||
| ERO1B_chr1_236210101_236286958 | 236245320 | ATACACAC others(3): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01884.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0021a0001c0001t0031others(2): Show | a0001c0001t0001g0108a0001c0001t0021g0019a0001c0001t0031g0134others(3): Show | 7 | 396 | 0.0177 | -10 | c.432 others(27): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | ||||||
| ERO1B_chr1_236210101_236286958 | 236250572 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG02015.hp2 others(20): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(3): Show | a0001c0003t0001g0004a0001c0003t0001g0148a0001c0003t0001g0152others(19): Show | 23 | 396 | 0.0581 | -10 | c.349 others(25): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 4/15 | chr1 | TogoVar | ||||||
| ERP44_chr9_99974185_100104000 | 100043258 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0201 | 1 | 220 | 0.0046 | -10 | c.286 others(27): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 4/11 | chr9 | TogoVar | ||||||
| ERP44_chr9_99974185_100104000 | 100079413 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00741.hp1 others(36): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0177a0001c0001t0003g0001a0001c0001t0003g0076others(35): Show | 39 | 220 | 0.1773 | -10 | c.58- others(27): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
| ERRFI1_chr1_8006727_8031309 | 8007442 | ACTCTCTC others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0042others(2): Show | 7 | 402 | 0.0174 | -10 | c.*57 others(21): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4284 | chr1 | TogoVar | ||||||
| ERV3-1_chr7_64985356_65011687 | 64989443 | TTATATAT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG01993.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0002a0001c0005t0002a0001c0005t0007others(4): Show | a0001c0001t0002g0001a0001c0001t0002g0023a0001c0005t0002g0008others(10): Show | 19 | 458 | 0.0415 | -10 | c.*17 others(21): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 912 | chr7 | TogoVar | ||||||
| ERV3-1_chr7_64985356_65011687 | 65010289 | TTGTGTGT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00733.hp2 others(30): Show |
a0001a0002a0009 | a0001c0001a0001c0005a0001c0011others(4): Show | a0001c0001t0002a0001c0005t0002a0001c0011t0011others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0016a0001c0005t0002g0037others(12): Show | 33 | 458 | 0.0721 | -10 | c.-41 others(21): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 3603 | chr7 | TogoVar | ||||||
| ERVFRD-1_chr6_11097489_11116725 | 11116008 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp1 others(48): Show |
a0001a0003a0007 | a0001c0001a0003c0012a0007c0013 | a0001c0001t0005a0001c0001t0018a0003c0012t0005others(1): Show | a0001c0001t0005g0006a0001c0001t0005g0007a0001c0001t0005g0009others(8): Show | 51 | 426 | 0.1197 | -10 | c.-46 others(21): Show |
ERVFRD-1 | ENSG00000244476.3 | transcript | ENST00000472091.2 | protein_coding | 4284 | chr6 | TogoVar | ||||||
| ERVH48-1_chr21_42911803_42930630 | 42922739 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | NA18941.hp1 NA18962.hp2 NA19056.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0012a0003c0003t0003 | a0001c0001t0001g0117a0001c0001t0012g0087a0003c0003t0003g0088 | 3 | 420 | 0.0071 | -10 | c.-28 others(29): Show |
ERVH48-1 | ENSG00000233056.4 | transcript | ENST00000447535.2 | protein_coding | 1/1 | chr21 | TogoVar | ||||||
| ERVH48-1_chr21_42911803_42930630 | 42926625 | CTGACCTC others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00738.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0017others(5): Show | a0001c0001t0004g0004a0001c0001t0004g0027a0001c0001t0004g0034others(16): Show | 51 | 420 | 0.1214 | -10 | c.-15 others(21): Show |
ERVH48-1 | ENSG00000233056.4 | transcript | ENST00000447535.2 | protein_coding | 996 | chr21 | TogoVar | ||||||
| ERVK3-1_chr19_58300377_58321812 | 58314626 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 | 1 | 424 | 0.0024 | -10 | c.295 others(24): Show |
ERVK3-1 | ENSG00000142396.11 | transcript | ENST00000413518.6 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ERVK3-1_chr19_58300377_58321812 | 58319598 | GAAAAGCC others(3): Show |
G | downstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 424 | 0.0024 | -10 | c.*48 others(21): Show |
ERVK3-1 | ENSG00000142396.11 | transcript | ENST00000413518.6 | protein_coding | 2787 | chr19 | TogoVar | ||||||
| ERVV-2_chr19_53039740_53056680 | 53051136 | CTTTTTTT others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG01243.hp2 others(13): Show |
a0001a0002a0004 | a0001c0002a0001c0005a0001c0020others(2): Show | a0001c0002t0007a0001c0005t0007a0001c0020t0007others(2): Show | a0001c0002t0007g0001a0001c0002t0007g0008a0001c0005t0007g0001others(5): Show | 16 | 446 | 0.0359 | -10 | c.*29 others(19): Show |
ERVV-2 | ENSG00000268964.3 | transcript | ENST00000601417.3 | protein_coding | 2/2 | 296 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
| ESAM_chr11_124748126_124767290 | 124755333 | CATGTATA others(3): Show |
C | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 430 | 0.0023 | -10 | c.608 others(25): Show |
ESAM | ENSG00000149564.12 | transcript | ENST00000278927.10 | protein_coding | 4/6 | chr11 | TogoVar | ||||||
| ESCO1_chr18_21524284_21605704 | 21579792 | GCGCACAC others(3): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp1 HG00735.hp2 others(6): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0001a0002c0002t0015 | a0001c0003t0002g0170a0002c0002t0001g0241a0002c0002t0001g0247others(6): Show | 9 | 310 | 0.0290 | -10 | c.-69 others(29): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
| ESCO1_chr18_21524284_21605704 | 21579794 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | NA19001.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0234 | 1 | 310 | 0.0032 | -10 | c.-69 others(29): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
| ESCO1_chr18_21524284_21605704 | 21594925 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0170 | 1 | 310 | 0.0032 | -10 | c.-82 others(29): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 1/11 | chr18 | TogoVar | ||||||
| ESCO2_chr8_27769554_27810316 | 27803549 | TACACACA others(3): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0242 | 1 | 380 | 0.0026 | -10 | c.*12 others(19): Show |
ESCO2 | ENSG00000171320.15 | transcript | ENST00000305188.13 | protein_coding | 11/11 | 120 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||
| ESCO2_chr8_27769554_27810316 | 27805287 | CAAAAAAA others(3): Show |
C | splice_region_variant | LOW | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0242 | 1 | 380 | 0.0026 | -10 | c.*18 others(21): Show |
ESCO2 | ENSG00000171320.15 | transcript | ENST00000305188.13 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| ESF1_chr20_13709325_13789919 | 13716804 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG01109.hp1 HG02257.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0005a0001c0002t0001a0002c0003t0003others(1): Show | a0001c0001t0005g0117a0001c0001t0005g0118a0001c0001t0005g0119others(5): Show | 8 | 390 | 0.0205 | -10 | c.226 others(27): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 13/13 | chr20 | TogoVar | ||||||
| ESF1_chr20_13709325_13789919 | 13726832 | TCAAAACA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(379): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(357): Show | 382 | 390 | 0.9795 | -10 | c.203 others(29): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 11/13 | chr20 | TogoVar |