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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EIPR1_chr2_3183970_3382818 | 3263850 | T | TCTTACTA others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0048a0001c0001t0001g0051a0001c0001t0004g0050 | 3 | 250 | 0.0120 | 8 | c.260 others(25): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3297038 | T | TTAACATG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(95): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0016others(95): Show | 98 | 250 | 0.3920 | 8 | c.260 others(27): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3299622 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01099.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0157a0001c0001t0002g0012a0001c0001t0002g0044others(10): Show | 13 | 250 | 0.0520 | 8 | c.259 others(27): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315149 | C | CATCCACA others(1): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18944.hp1 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0188a0001c0001t0002g0146a0001c0001t0003g0150 | 3 | 250 | 0.0120 | 8 | c.259 others(27): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ELAC1_chr18_50963040_50993121 | 50971908 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 HG02896.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0001 | a0001c0001t0002g0091a0001c0001t0002g0093a0002c0002t0001g0092 | 3 | 384 | 0.0078 | 8 | c.-8- others(23): Show |
ELAC1 | ENSG00000141642.9 | transcript | ENST00000269466.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ELAC2_chr17_12986612_13023027 | 12988925 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00673.hp2 others(21): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0017 | a0001c0001t0004a0001c0001t0020a0001c0001t0027others(2): Show | a0001c0001t0004g0016a0001c0001t0004g0017a0001c0001t0004g0019others(14): Show | 24 | 400 | 0.0600 | 8 | c.*38 others(19): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 2686 | chr17 | TogoVar | |||||||
ELAC2_chr17_12986612_13023027 | 13009990 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00642.hp1 others(8): Show |
a0002a0003 | a0002c0002a0003c0006 | a0002c0002t0005a0002c0002t0006a0003c0006t0006 | a0002c0002t0005g0090a0002c0002t0005g0096a0002c0002t0005g0098others(5): Show | 11 | 400 | 0.0275 | 8 | c.738 others(23): Show |
ELAC2 | ENSG00000006744.19 | transcript | ENST00000338034.9 | protein_coding | 8/23 | chr17 | TogoVar | |||||||
ELANE_chr19_847303_861243 | 857081 | T | TAAATAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01243.hp2 HG01433.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(7): Show | 22 | 403 | 0.0546 | 8 | c.*91 others(17): Show |
ELANE | ENSG00000197561.7 | transcript | ENST00000263621.2 | protein_coding | 839 | chr19 | TogoVar | |||||||
ELAPOR1_chr1_109109115_109211781 | 109113451 | A | AGAGGGAG others(1): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01884.hp1 |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0004 | a0001c0001t0002a0002c0005t0006a0003c0004t0004 | a0001c0001t0002g0018a0002c0005t0006g0060a0003c0004t0004g0071 | 3 | 230 | 0.0130 | 8 | c.-73 others(17): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 663 | chr1 | TogoVar | |||||||
ELAPOR1_chr1_109109115_109211781 | 109118900 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00741.hp2 others(7): Show |
a0001a0002a0004 | a0001c0001a0001c0013a0002c0005others(2): Show | a0001c0001t0002a0001c0001t0013a0001c0001t0036others(4): Show | a0001c0001t0002g0064a0001c0001t0013g0103a0001c0001t0036g0063others(7): Show | 10 | 230 | 0.0435 | 8 | c.153 others(25): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELAPOR1_chr1_109109115_109211781 | 109140098 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01071.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0038others(5): Show | a0001c0001t0001a0001c0001t0014a0001c0002t0001others(8): Show | a0001c0001t0001g0204a0001c0001t0001g0205a0001c0001t0001g0206others(16): Show | 19 | 230 | 0.0826 | 8 | c.154 others(27): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELAPOR1_chr1_109109115_109211781 | 109144061 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01169.hp1 HG01346.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0038a0002c0006 | a0001c0002t0015a0001c0038t0015a0002c0006t0002 | a0001c0002t0015g0218a0001c0038t0015g0214a0002c0006t0002g0133others(2): Show | 5 | 230 | 0.0217 | 8 | c.154 others(27): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELAPOR1_chr1_109109115_109211781 | 109183636 | C | CCTTCCTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(167): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0013others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0006a0001c0001t0001g0008a0001c0001t0001g0020others(167): Show | 170 | 230 | 0.7391 | 8 | c.953 others(25): Show |
ELAPOR1 | ENSG00000116299.17 | transcript | ENST00000369939.8 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELAPOR2_chr7_86871906_87064654 | 86883023 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG03453.hp2 NA18522.hp2 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0115a0001c0001t0003g0018a0002c0002t0001g0023 | 3 | 196 | 0.0153 | 8 | c.303 others(27): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 21/21 | chr7 | TogoVar | |||||||
ELAPOR2_chr7_86871906_87064654 | 86905070 | A | AGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp1 others(19): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0007others(19): Show | 22 | 196 | 0.1122 | 8 | c.255 others(27): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 18/21 | chr7 | TogoVar | |||||||
ELAPOR2_chr7_86871906_87064654 | 86924374 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02015.hp2 HG02040.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0001g0042a0001c0001t0001g0044a0001c0001t0001g0046others(6): Show | 9 | 196 | 0.0459 | 8 | c.139 others(27): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 10/21 | chr7 | TogoVar | |||||||
ELAPOR2_chr7_86871906_87064654 | 86946159 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG03453.hp2 NA19002.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0016a0002c0002t0001 | a0001c0001t0001g0045a0001c0001t0016g0024a0002c0002t0001g0023 | 3 | 196 | 0.0153 | 8 | c.507 others(25): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 3/21 | chr7 | TogoVar | |||||||
ELAPOR2_chr7_86871906_87064654 | 86974580 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00621.hp2 others(60): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0014a0001c0001t0001g0039a0001c0001t0001g0040others(60): Show | 63 | 196 | 0.3214 | 8 | c.190 others(25): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
ELAPOR2_chr7_86871906_87064654 | 86993234 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0089a0001c0001t0001g0095a0001c0001t0001g0096others(3): Show | 6 | 196 | 0.0306 | 8 | c.190 others(27): Show |
ELAPOR2 | ENSG00000164659.15 | transcript | ENST00000450689.7 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
ELAVL1_chr19_7953573_8010641 | 7957384 | A | AGAAGGAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG02486.hp2 NA18968.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0042a0001c0001t0001g0111a0001c0001t0012g0234 | 3 | 276 | 0.0109 | 8 | c.*60 others(19): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 1188 | chr19 | TogoVar | |||||||
ELAVL1_chr19_7953573_8010641 | 7957388 | A | AGAAGGAA others(1): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 HG02055.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0015 | a0001c0001t0003g0001a0001c0001t0015g0041a0001c0001t0015g0044 | 3 | 276 | 0.0109 | 8 | c.*60 others(19): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 1184 | chr19 | TogoVar | |||||||
ELAVL1_chr19_7953573_8010641 | 7957429 | G | GAAGGAAG others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00642.hp2 others(34): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0029others(30): Show | 37 | 276 | 0.1341 | 8 | c.*60 others(19): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 1143 | chr19 | TogoVar | |||||||
ELAVL1_chr19_7953573_8010641 | 7957437 | G | GAAGGAAG others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01070.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0004a0001c0002t0004g0019a0001c0002t0004g0020others(4): Show | 9 | 276 | 0.0326 | 8 | c.*60 others(19): Show |
ELAVL1 | ENSG00000066044.15 | transcript | ENST00000407627.7 | protein_coding | 1135 | chr19 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23702951 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01070.hp1 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0020a0001c0002t0002 | a0001c0001t0001g0062a0001c0001t0001g0068a0001c0001t0001g0075others(39): Show | 42 | 352 | 0.1193 | 8 | c.488 others(25): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 4/6 | chr9 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23759754 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02071.hp1 HG02129.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0069a0001c0001t0001g0105a0001c0001t0001g0133others(9): Show | 12 | 352 | 0.0341 | 8 | c.229 others(25): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 2/6 | chr9 | TogoVar | |||||||
ELAVL2_chr9_23685104_23831240 | 23830601 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00673.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0003t0003 | a0001c0001t0001g0191a0001c0001t0001g0202a0001c0001t0001g0214others(24): Show | 27 | 352 | 0.0767 | 8 | c.-48 others(19): Show |
ELAVL2 | ENSG00000107105.15 | transcript | ENST00000397312.7 | protein_coding | 4362 | chr9 | TogoVar | |||||||
ELAVL4_chr1_50103920_50208772 | 50119036 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00735.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0038a0001c0001t0001g0039others(24): Show | 29 | 276 | 0.1051 | 8 | c.9+9 others(21): Show |
ELAVL4 | ENSG00000162374.18 | transcript | ENST00000371824.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELAVL4_chr1_50103920_50208772 | 50133599 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00673.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0012others(53): Show | 56 | 276 | 0.2029 | 8 | c.10- others(25): Show |
ELAVL4 | ENSG00000162374.18 | transcript | ENST00000371824.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELAVL4_chr1_50103920_50208772 | 50192519 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01070.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0020others(21): Show | 24 | 276 | 0.0870 | 8 | c.355 others(25): Show |
ELAVL4 | ENSG00000162374.18 | transcript | ENST00000371824.7 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ELF2_chr4_139052265_139182218 | 139114561 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG02257.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0197a0001c0001t0002g0211a0001c0001t0002g0215others(4): Show | 7 | 342 | 0.0205 | 8 | c.238 others(27): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139135279 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02698.hp2 HG03453.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008a0001c0001t0001g0068a0001c0001t0001g0076others(3): Show | 6 | 342 | 0.0175 | 8 | c.72+ others(23): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
ELF2_chr4_139052265_139182218 | 139151032 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG01255.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0014a0001c0001t0001g0024a0001c0001t0001g0026others(9): Show | 12 | 342 | 0.0351 | 8 | c.-25 others(29): Show |
ELF2 | ENSG00000109381.21 | transcript | ENST00000686138.1 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
ELF4_chrX_130058955_130115497 | 130078762 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02683.hp1 NA19068.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061a0001c0001t0002g0080a0001c0001t0002g0211 | 3 | 274 | 0.0110 | 8 | c.75+ others(23): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 2/8 | chrX | TogoVar | |||||||
ELF4_chrX_130058955_130115497 | 130083832 | C | CTGGATGG others(1): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02258.hp1 NA18997.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0026 | a0001c0001t0001g0241a0001c0001t0007g0081a0001c0001t0026g0156 | 3 | 274 | 0.0110 | 8 | c.-20 others(27): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 1/8 | chrX | TogoVar | |||||||
ELF4_chrX_130058955_130115497 | 130089509 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02602.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004a0001c0002t0006 | a0001c0001t0001g0106a0001c0002t0004g0153a0001c0002t0006g0147others(2): Show | 5 | 274 | 0.0183 | 8 | c.-20 others(27): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 1/8 | chrX | TogoVar | |||||||
ELF4_chrX_130058955_130115497 | 130102872 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0091 | 1 | 274 | 0.0037 | 8 | c.-21 others(27): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 1/8 | chrX | TogoVar | |||||||
ELF4_chrX_130058955_130115497 | 130102880 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0242a0001c0001t0003g0243 | 2 | 274 | 0.0073 | 8 | c.-21 others(27): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 1/8 | chrX | TogoVar | |||||||
ELF4_chrX_130058955_130115497 | 130102884 | G | GAGAAAGA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0188 | 1 | 274 | 0.0037 | 8 | c.-21 others(27): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 1/8 | chrX | TogoVar | |||||||
ELF4_chrX_130058955_130115497 | 130104277 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02809.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0103a0001c0001t0001g0252a0001c0001t0002g0220others(2): Show | 5 | 274 | 0.0183 | 8 | c.-21 others(27): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 1/8 | chrX | TogoVar | |||||||
ELF4_chrX_130058955_130115497 | 130105854 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 274 | 0.0037 | 8 | c.-21 others(27): Show |
ELF4 | ENSG00000102034.18 | transcript | ENST00000308167.10 | protein_coding | 1/8 | chrX | TogoVar | |||||||
ELFN1_chr7_1665277_1752946 | 1747302 | C | CCACACAC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG01168.hp1 others(23): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0008a0001c0001t0009a0001c0001t0015others(7): Show | a0001c0001t0008g0010a0001c0001t0008g0021a0001c0001t0008g0123others(23): Show | 26 | 302 | 0.0861 | 8 | c.*24 others(17): Show |
ELFN1 | ENSG00000225968.8 | transcript | ENST00000424383.5 | protein_coding | 4/4 | 253 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ELFN2_chr22_37362960_37432479 | 37395106 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(7): Show |
a0001a0005 | a0001c0002a0001c0003a0005c0014 | a0001c0002t0004a0001c0002t0006a0001c0002t0007others(4): Show | a0001c0002t0004g0238a0001c0002t0004g0263a0001c0002t0006g0253others(7): Show | 10 | 334 | 0.0299 | 8 | c.-46 others(29): Show |
ELFN2 | ENSG00000166897.16 | transcript | ENST00000402918.7 | protein_coding | 2/2 | chr22 | TogoVar | |||||||
ELFN2_chr22_37362960_37432479 | 37403409 | G | GCGAGGGG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(159): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(59): Show | a0001c0001t0002g0111a0001c0001t0002g0123a0001c0001t0002g0130others(159): Show | 162 | 334 | 0.4850 | 8 | c.-46 others(29): Show |
ELFN2 | ENSG00000166897.16 | transcript | ENST00000402918.7 | protein_coding | 2/2 | chr22 | TogoVar | |||||||
ELFN2_chr22_37362960_37432479 | 37425870 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp2 others(70): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(30): Show | a0001c0001t0002g0240a0001c0001t0002g0241a0001c0001t0002g0248others(70): Show | 73 | 334 | 0.2186 | 8 | c.-61 others(27): Show |
ELFN2 | ENSG00000166897.16 | transcript | ENST00000402918.7 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
ELFN2_chr22_37362960_37432479 | 37427592 | G | GTCCGTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 HG03239.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0017a0001c0003t0092a0001c0003t0093 | a0001c0001t0017g0319a0001c0003t0092g0322a0001c0003t0093g0318 | 3 | 334 | 0.0090 | 8 | c.-90 others(17): Show |
ELFN2 | ENSG00000166897.16 | transcript | ENST00000402918.7 | protein_coding | 114 | chr22 | TogoVar | |||||||
ELFN2_chr22_37362960_37432479 | 37431867 | A | AACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG00642.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0009others(17): Show | a0001c0001t0003g0003a0001c0001t0003g0178a0001c0001t0003g0180others(33): Show | 37 | 334 | 0.1108 | 8 | c.-51 others(19): Show |
ELFN2 | ENSG00000166897.16 | transcript | ENST00000402918.7 | protein_coding | 4389 | chr22 | TogoVar | |||||||
ELK3_chr12_96189375_96274824 | 96210561 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00733.hp1 others(36): Show |
a0001a0002a0003 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0058a0001c0001t0001g0104a0001c0001t0001g0188others(36): Show | 39 | 354 | 0.1102 | 8 | c.-2- others(25): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ELK3_chr12_96189375_96274824 | 96226516 | C | CCACATGC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(316): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(308): Show | 319 | 354 | 0.9011 | 8 | c.207 others(25): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ELK3_chr12_96189375_96274824 | 96241426 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02572.hp2 HG02738.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0058a0001c0001t0001g0072a0001c0001t0001g0073others(3): Show | 7 | 354 | 0.0198 | 8 | c.208 others(25): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ELK3_chr12_96189375_96274824 | 96271489 | C | CTGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(36): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0058others(34): Show | 39 | 354 | 0.1102 | 8 | c.*43 others(19): Show |
ELK3 | ENSG00000111145.8 | transcript | ENST00000228741.8 | protein_coding | 1666 | chr12 | TogoVar |