| geneid | 2046 |
|---|---|
| ensemblid | ENSG00000070886.12 |
| hgncid | 3391 |
| symbol | EPHA8 |
| name | EPH receptor A8 |
| refseq_nuc | NM_020526.5 |
| refseq_prot | NP_065387.1 |
| ensembl_nuc | ENST00000166244.8 |
| ensembl_prot | ENSP00000166244.3 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 22563489 |
| end | 22603595 |
| strand | + |
| ver | v1.2 |
| region | chr1:22563489-22603595 |
| region5000 | chr1:22558489-22608595 |
| regionname0 | EPHA8_chr1_22563489_22603595 |
| regionname5000 | EPHA8_chr1_22558489_22608595 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:22563617
|
CGCCCG | C | 0.4269 | start_retained_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(143): Show |
a0000a0001a0002others(11): Show | a0000c0007a0001c0001a0001c0002others(27): Show | a0000c0007t0010a0001c0001t0002a0001c0001t0007others(54): Show | a0000c0007t0010g0158a0001c0001t0002g0011a0001c0001t0002g0070others(135): Show | 146 | 342 | -5 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/17 | c.-5_-1delCGGCC | INFO_REALIGN_3_PRIME |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:22589001
|
C | T | 0.0146 | synonymous_variant | LOW | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/17 | c.1110C>T | p.Pro370Pro | 1257/5019 | 1110/3018 | 370/1005 | ||
|
chr1:22593601
|
C | G | 0.0322 | synonymous_variant | LOW | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(8): Show |
a0001 | a0001c0006a0001c0013 | a0001c0006t0004a0001c0006t0005a0001c0013t0017 | a0001c0006t0004g0288a0001c0006t0005g0207a0001c0006t0005g0212others(8): Show | 11 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 7/17 | c.1518C>G | p.Thr506Thr | 1665/5019 | 1518/3018 | 506/1005 | ||
|
chr1:22599020
|
C | T | 0.0088 | synonymous_variant | LOW | NA18957.hp2 NA18967.hp2 NA19057.hp1 |
a0001 | a0001c0013 | a0001c0013t0017 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308 | 3 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/17 | c.2361C>T | p.Asp787Asp | 2508/5019 | 2361/3018 | 787/1005 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:22563582
|
A | C | 0.4298 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(144): Show |
a0000a0001a0002others(11): Show | a0000c0007a0001c0001a0001c0002others(27): Show | a0000c0007t0010a0000c0007t0035a0001c0001t0002others(55): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0001c0001t0002g0011others(136): Show | 147 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/17 | c.-54A>C | 54 | |||||
|
chr1:22601772
|
A | G | 0.6784 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(229): Show |
a0000a0001a0002others(14): Show | a0000c0007a0000c0042a0001c0001others(41): Show | a0000c0007t0003a0000c0007t0010a0000c0007t0035others(88): Show | a0000c0007t0003g0197a0000c0007t0010g0158a0000c0007t0035g0006others(214): Show | 232 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 17/17 | c.*31A>G | 31 | |||||
|
chr1:22601837
|
A | G | 0.0088 | 3_prime_UTR_variant | MODIFIER | NA18957.hp2 NA18967.hp2 NA19057.hp1 |
a0001 | a0001c0013 | a0001c0013t0017 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308 | 3 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 17/17 | c.*96A>G | 96 | |||||
|
chr1:22601856
|
A | G | 0.4591 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(154): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0006others(25): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(54): Show | a0001c0001t0002g0011a0001c0001t0002g0070a0001c0001t0002g0098others(142): Show | 157 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 17/17 | c.*115A>G | 115 | |||||
|
chr1:22602320
|
A | G | 0.4591 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(154): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0006others(25): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(54): Show | a0001c0001t0002g0011a0001c0001t0002g0070a0001c0001t0002g0098others(142): Show | 157 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 17/17 | c.*579A>G | 579 | |||||
|
chr1:22602944
|
C | T | 0.0088 | 3_prime_UTR_variant | MODIFIER | NA18957.hp2 NA18967.hp2 NA19057.hp1 |
a0001 | a0001c0013 | a0001c0013t0017 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308 | 3 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 17/17 | c.*1203C>T | 1203 |
| chr:pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:22564343
|
C | G | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.94+614C>G | ||||||
|
chr1:22564657
|
C | T | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0001a0001c0013a0001c0017 | a0001c0001t0001a0001c0013t0017a0001c0017t0008 | a0001c0001t0001g0303a0001c0013t0017g0306a0001c0013t0017g0307others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.94+928C>T | ||||||
|
chr1:22564916
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00438.hp2 others(175): Show |
a0000a0001a0002others(12): Show | a0000c0007a0000c0041a0000c0042others(31): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(73): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(165): Show | 178 | 342 | 0.5205 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.94+1187T>C | ||||||
|
chr1:22565472
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(323): Show |
a0000a0001a0002others(16): Show | a0000c0007a0000c0041a0000c0042others(44): Show | a0000c0007t0001a0000c0007t0010a0000c0007t0035others(98): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(295): Show | 326 | 342 | 0.9532 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.94+1743C>T | ||||||
|
chr1:22565889
|
C | T | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.94+2160C>T | ||||||
|
chr1:22565908
|
G | T | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.94+2179G>T | ||||||
|
chr1:22567415
|
C | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(105): Show |
a0000a0001a0002others(9): Show | a0000c0007a0001c0001a0001c0002others(19): Show | a0000c0007t0010a0000c0007t0035a0001c0001t0002others(49): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0001c0001t0002g0070others(96): Show | 108 | 342 | 0.3158 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.95-1874C>G | ||||||
|
chr1:22567859
|
A | G | intron_variant | MODIFIER | NA18957.hp2 NA18967.hp2 NA19057.hp1 others(1): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(1): Show | 4 | 342 | 0.0117 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.95-1430A>G | ||||||
|
chr1:22567860
|
G | GA | intron_variant | MODIFIER | NA18957.hp2 NA18967.hp2 NA19057.hp1 others(1): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(1): Show | 4 | 342 | 0.0117 | 1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.95-1429_95-1428insA | ||||||
|
chr1:22567863
|
G | T | intron_variant | MODIFIER | NA18957.hp2 NA18967.hp2 NA19057.hp1 others(1): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(1): Show | 4 | 342 | 0.0117 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.95-1426G>T | ||||||
|
chr1:22568159
|
A | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(101): Show |
a0000a0001a0002others(7): Show | a0000c0007a0001c0001a0001c0002others(16): Show | a0000c0007t0010a0000c0007t0035a0001c0001t0002others(45): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0001c0001t0002g0070others(92): Show | 104 | 342 | 0.3041 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.95-1130A>C | ||||||
|
chr1:22568934
|
T | G | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.95-355T>G | ||||||
|
chr1:22570229
|
T | C | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.159+876T>C | ||||||
|
chr1:22570330
|
G | GCA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(183): Show |
a0000a0001a0002others(10): Show | a0000c0007a0000c0041a0000c0042others(34): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(77): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(171): Show | 186 | 342 | 0.5439 | 2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.159+980_159+981dupCA | INFO_REALIGN_3_PRIME | |||||
|
chr1:22570341
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(141): Show |
a0000a0001a0002others(9): Show | a0000c0007a0000c0041a0000c0042others(32): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(68): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(130): Show | 144 | 342 | 0.4211 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.159+988T>C | ||||||
|
chr1:22570365
|
CGT | C | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | -2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.159+1016_159+1017delTG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22570440
|
G | GCATACTT others(86): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(124): Show |
a0000a0001a0002others(7): Show | a0000c0007a0000c0041a0000c0042others(28): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(61): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(114): Show | 127 | 342 | 0.3714 | 93 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.159+1142_159+1143insGATAATAATATTAATAATGATGATGATAACGACACCAACATACTTGAGTTCTTTCATGTCCACGTTCAGCTTCTATGGCTCTGAGGACAGAAG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22570496
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(128): Show |
a0000a0001a0002others(7): Show | a0000c0007a0000c0041a0000c0042others(29): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(64): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(118): Show | 131 | 342 | 0.3830 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.159+1143A>G | ||||||
|
chr1:22571782
|
G | T | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.159+2429G>T | ||||||
|
chr1:22571922
|
C | A | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.159+2569C>A | ||||||
|
chr1:22572201
|
G | A | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.159+2848G>A | ||||||
|
chr1:22572518
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(187): Show |
a0000a0001a0002others(12): Show | a0000c0007a0000c0041a0000c0042others(36): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(80): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(175): Show | 190 | 342 | 0.5556 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.159+3165T>C | ||||||
|
chr1:22572730
|
C | T | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.159+3377C>T | ||||||
|
chr1:22573084
|
C | T | intron_variant | MODIFIER | HG02040.hp1 HG02486.hp2 NA18957.hp2 others(4): Show |
a0001a0003 | a0001c0013a0001c0017a0003c0018 | a0001c0013t0017a0001c0017t0008a0003c0018t0003others(1): Show | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(4): Show | 7 | 342 | 0.0205 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-3133C>T | ||||||
|
chr1:22573251
|
A | G | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(39): Show |
a0000a0001a0002others(3): Show | a0000c0041a0000c0042a0001c0005others(14): Show | a0000c0041t0001a0000c0042t0003a0001c0005t0003others(22): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0005t0003g0032others(38): Show | 42 | 342 | 0.1228 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-2966A>G | ||||||
|
chr1:22573735
|
GC | G | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | -1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-2480delC | INFO_REALIGN_3_PRIME | |||||
|
chr1:22574143
|
C | T | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(39): Show |
a0000a0001a0002others(3): Show | a0000c0041a0000c0042a0001c0005others(14): Show | a0000c0041t0001a0000c0042t0003a0001c0005t0003others(22): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0005t0003g0032others(38): Show | 42 | 342 | 0.1228 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-2074C>T | ||||||
|
chr1:22574155
|
A | G | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-2062A>G | ||||||
|
chr1:22574571
|
T | C | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-1646T>C | ||||||
|
chr1:22574959
|
A | AT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-1249dupT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22575033
|
C | T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-1184C>T | ||||||
|
chr1:22575221
|
G | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-996G>A | ||||||
|
chr1:22575415
|
T | TGCCCATT others(325): Show |
intron_variant | MODIFIER | NA18957.hp2 NA19057.hp1 NA19074.hp2 |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0017t0008g0304 | 3 | 342 | 0.0088 | 332 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-791_160-790insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACCGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCCCATTTTCT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22575740
|
T | A | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(42): Show |
a0000a0001a0002others(3): Show | a0000c0041a0000c0042a0001c0002others(15): Show | a0000c0041t0001a0000c0042t0003a0001c0002t0005others(23): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0002t0005g0022others(40): Show | 45 | 342 | 0.1316 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-477T>A | ||||||
|
chr1:22575861
|
T | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-356T>C | ||||||
|
chr1:22576132
|
G | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-85G>A | ||||||
|
chr1:22576983
|
A | G | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(42): Show |
a0000a0001a0002others(3): Show | a0000c0041a0000c0042a0001c0002others(15): Show | a0000c0041t0001a0000c0042t0003a0001c0002t0005others(23): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0002t0005g0022others(40): Show | 45 | 342 | 0.1316 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+103A>G | ||||||
|
chr1:22577120
|
C | T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(7): Show |
a0001a0003 | a0001c0002a0001c0013a0001c0017others(1): Show | a0001c0002t0005a0001c0013t0017a0001c0017t0008others(2): Show | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(6): Show | 10 | 342 | 0.0292 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+240C>T | ||||||
|
chr1:22577126
|
G | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+246G>C | ||||||
|
chr1:22577217
|
T | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+337T>C | ||||||
|
chr1:22577855
|
C | CGTGT | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00642.hp2 others(122): Show |
a0000a0001a0002others(8): Show | a0000c0007a0000c0041a0000c0042others(30): Show | a0000c0007t0035a0000c0041t0001a0000c0042t0003others(57): Show | a0000c0007t0035g0006a0000c0041t0001g0031a0000c0042t0003g0106others(111): Show | 125 | 342 | 0.3655 | 4 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+977_823+978insGTGT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22577883
|
T | G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1003T>G | ||||||
|
chr1:22577906
|
T | TGC | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(38): Show |
a0000a0001a0002others(3): Show | a0000c0041a0000c0042a0001c0005others(14): Show | a0000c0041t0001a0000c0042t0003a0001c0005t0003others(21): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0005t0003g0032others(37): Show | 41 | 342 | 0.1199 | 2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1026_823+1027insGC | ||||||
|
chr1:22577931
|
G | A | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(41): Show |
a0000a0001a0002others(3): Show | a0000c0041a0000c0042a0001c0002others(15): Show | a0000c0041t0001a0000c0042t0003a0001c0002t0005others(22): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0002t0005g0022others(39): Show | 44 | 342 | 0.1287 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1051G>A | ||||||
|
chr1:22577934
|
A | T | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(42): Show |
a0000a0001a0002others(3): Show | a0000c0041a0000c0042a0001c0002others(16): Show | a0000c0041t0001a0000c0042t0003a0001c0002t0005others(23): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0002t0005g0022others(40): Show | 45 | 342 | 0.1316 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1054A>T | ||||||
|
chr1:22577938
|
T | TATGCATG others(59): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 66 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1061_823+1062insCATGTGTGTGCATGTGTGCGTATGTGTGCATGTGAGTGTATGTGTGCATGTGTGCATGTGTGCATG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22577949
|
G | GTGTA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 4 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1072_823+1075dupTATG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22577987
|
G | GTGTGCAT others(1289): Show |
intron_variant | MODIFIER | HG02040.hp1 NA19057.hp1 NA19074.hp2 |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0017t0008g0304a0001c0017t0008g0305 | 3 | 342 | 0.0088 | 1296 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1109_823+1110insTGCATGTGTGCGTGAGTGTATGTGTGTGTATGTATGCGTGTGTGTGCATGTGCGTGAGTATGTGCATTGAGTGCGTGCACATGTGTGCATGAGTATGTATGCGTGTATTCATGTGTGTGCATGTGCGTGAGTGTATGTGCATGTGTGCATGTATGCGTGTGTATGTATGCATGCGTGTGCATGTGTGTGACTATGTATGCATGTGTGTATGTGCATGTGTGTGAGCGTATGTATGCATGTGTGTGCCTGTGTGCGAGTGTACGCATATGTGCGCATGTGTGCGTGAATGTGCATGTGTGCATGTGTGCATTTTTGTATGCATGTGTTTGCGCATGTGTGAGTTTATTGTGCATGTGTGCATGAGTGTATATGTGCATGTGTACGTGTGCATGTGTGCGTGGGTGTATGCATGTGCATGTGCATGAGTGTATGTGTGCGTTTGTGTGCATGTGTGCGTGAGTGTACCAATGTGTGTGCATGAGTGTGTGCATATGTGTGCATGAGTGTATGTGTATGTGCATCTGTGCAGTTGTGTGCATCTGCGTGAGTATGTGCATGTGTGCGTGAGTGTATGTATGCATGTGTATGTATACGTGTGCATGTGTGTATGTGTGCGTGTGTGCATATGTGCGTGAGTGTGCATGTGTGCATGTGTGCATGAGTGTATGTATGCATGTATGTGTGTGCCTGTGTGCATGTGTATGTGTGCCTGTGTGTGCATGTGTGCATGTGCGTGAATGTGTGTGCGTGTGTGCGTGCAATGTGCGTGTGCATGTGTGTGAGTGTATGTATGCATGTGTGCGTGCACATGTGTGCATGAGTGTATGTGTGCATGTGTGCATGTGTGAGTGTATGTATGCATGTGTGCGTGCACATGTGTGCATGAGTATGTGTGCATGTGTGCATGAGTGTTCATGTGTGTGCATGTGCATGAGTGTATATATGCGTGAGTGTATGCATGTGTGCGTGTGTGCATGTATGTGCATGTGTGCGTGAGTGTATGCATGTGTGCATGAATGTGTGCATGTGTGCATTTTTGTATGCATGTTTGCGCATGTGTGCGTTGAGTATTGTGCATGTGTGCATGTTTGTGTGCATGTGTATGTGTGCATGTGTATGTGTGCATGTGTGCGTGAGTATGCATGTGTGTGCATGTGCCAGTGTAGTATGCTTGTGTGTGCATGTGTGCATGAGTGTGTGTGCATGTGTATGTGCATATGTATGCATGTGCATGTGTGCATCTGTGTGTGTGCATGTGTGTGCATGTGTGCGTATGTATGCATGTGTGCGTGAATG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22577990
|
C | T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01891.hp1 others(7): Show |
a0001a0002 | a0001c0002a0001c0013a0001c0017others(3): Show | a0001c0002t0005a0001c0013t0017a0001c0017t0008others(3): Show | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(6): Show | 10 | 342 | 0.0292 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1110C>T | ||||||
|
chr1:22578033
|
GTGTA | G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | -4 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1161_823+1164delATGT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22578049
|
GTGTGTGC others(1): Show |
G | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | -8 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1180_823+1187delTGTGCATG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22578125
|
T | C | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(38): Show |
a0000a0001a0002others(3): Show | a0000c0041a0000c0042a0001c0005others(14): Show | a0000c0041t0001a0000c0042t0003a0001c0005t0003others(21): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0005t0003g0032others(37): Show | 41 | 342 | 0.1199 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1245T>C | ||||||
|
chr1:22578151
|
C | CGTGA | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 4 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1274_823+1275insAGTG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22578182
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(80): Show |
a0000a0001a0002others(4): Show | a0000c0007a0000c0041a0000c0042others(21): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(43): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(75): Show | 83 | 342 | 0.2427 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1302G>A | ||||||
|
chr1:22578185
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(80): Show |
a0000a0001a0002others(4): Show | a0000c0007a0000c0041a0000c0042others(21): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(43): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(75): Show | 83 | 342 | 0.2427 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1305C>T | ||||||
|
chr1:22578203
|
C | CAT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(84): Show |
a0000a0001a0002others(5): Show | a0000c0007a0000c0041a0000c0042others(22): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(45): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(78): Show | 87 | 342 | 0.2544 | 2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1323_823+1324insAT | ||||||
|
chr1:22578219
|
AGT | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | -2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1343_823+1344delTG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22578226
|
ATG | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | -2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1352_823+1353delGT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22578394
|
C | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(117): Show |
a0000a0001a0002others(7): Show | a0000c0007a0000c0041a0000c0042others(28): Show | a0000c0007t0010a0000c0041t0001a0000c0042t0003others(60): Show | a0000c0007t0010g0158a0000c0041t0001g0031a0000c0042t0003g0106others(109): Show | 120 | 342 | 0.3509 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1514C>G | ||||||
|
chr1:22578528
|
CAT | C | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | -2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1651_823+1652delAT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22578561
|
T | TTG | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1683_823+1684dupGT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22578571
|
CTGCATGT others(9): Show |
C | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | -16 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1695_823+1710delATGTGTGCATGAATGC | INFO_REALIGN_3_PRIME | |||||
|
chr1:22578626
|
TGTGC | T | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | -4 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1747_823+1750delGTGC | ||||||
|
chr1:22578635
|
GTGTA | G | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | -4 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1759_823+1762delATGT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22578697
|
C | CTGTG | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(41): Show |
a0000a0001a0002others(3): Show | a0000c0041a0000c0042a0001c0002others(15): Show | a0000c0041t0001a0000c0042t0003a0001c0002t0005others(22): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0002t0005g0022others(39): Show | 44 | 342 | 0.1287 | 4 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1823_823+1826dupGTGT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22578782
|
G | T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1902G>T | ||||||
|
chr1:22578825
|
A | G | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(41): Show |
a0000a0001a0002others(3): Show | a0000c0041a0000c0042a0001c0002others(15): Show | a0000c0041t0001a0000c0042t0003a0001c0002t0005others(22): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0002t0005g0022others(39): Show | 44 | 342 | 0.1287 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1945A>G | ||||||
|
chr1:22578870
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(113): Show |
a0000a0001a0002others(8): Show | a0000c0007a0000c0041a0000c0042others(29): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(56): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(105): Show | 116 | 342 | 0.3392 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1990C>T | ||||||
|
chr1:22578876
|
C | CGT | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(41): Show |
a0000a0001a0002others(3): Show | a0000c0041a0000c0042a0001c0002others(15): Show | a0000c0041t0001a0000c0042t0003a0001c0002t0005others(22): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0002t0005g0022others(39): Show | 44 | 342 | 0.1287 | 2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2001_823+2002dupGT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22578923
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(124): Show |
a0000a0001a0002others(7): Show | a0000c0007a0000c0041a0000c0042others(29): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(63): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(114): Show | 127 | 342 | 0.3714 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2043T>G | ||||||
|
chr1:22578957
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(121): Show |
a0000a0001a0002others(7): Show | a0000c0007a0000c0041a0000c0042others(28): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(62): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(112): Show | 124 | 342 | 0.3626 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2077C>A | ||||||
|
chr1:22578976
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(138): Show |
a0000a0001a0002others(9): Show | a0000c0007a0000c0041a0000c0042others(32): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(67): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(127): Show | 141 | 342 | 0.4123 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2096T>C | ||||||
|
chr1:22579055
|
A | ATGTG | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 4 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2178_823+2179insGTGT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22579083
|
A | G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2203A>G | ||||||
|
chr1:22579098
|
TGTGTATG others(13): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | -20 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2237_823+2256delACGTGTATGTGTGCATGTGT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22579142
|
C | T | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2262C>T | ||||||
|
chr1:22579209
|
A | ATG | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(37): Show |
a0000a0001a0002others(3): Show | a0000c0041a0000c0042a0001c0005others(14): Show | a0000c0041t0001a0000c0042t0003a0001c0005t0003others(20): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0005t0003g0032others(36): Show | 40 | 342 | 0.1170 | 2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2337_823+2338dupGT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22579342
|
AGT | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | -2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2465_823+2466delGT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22579754
|
A | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(139): Show |
a0000a0001a0002others(9): Show | a0000c0007a0000c0041a0000c0042others(32): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(68): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(128): Show | 142 | 342 | 0.4152 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2874A>C | ||||||
|
chr1:22579914
|
T | TCCCTCTA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 7 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+3037_823+3038insTCTACCC | INFO_REALIGN_3_PRIME | |||||
|
chr1:22580017
|
G | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+3137G>C | ||||||
|
chr1:22580118
|
T | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+3238T>C | ||||||
|
chr1:22580127
|
CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(78): Show |
a0000a0001a0002others(3): Show | a0000c0007a0001c0001a0001c0002others(7): Show | a0000c0007t0001a0001c0001t0001a0001c0001t0005others(12): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(70): Show | 81 | 342 | 0.2368 | -7 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+3268_823+3274delTTTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22580136
|
T | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(4): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(3): Show | 7 | 342 | 0.0205 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+3256T>C | ||||||
|
chr1:22580435
|
A | G | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02040.hp1 others(5): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0005a0001c0013t0017a0001c0017t0008 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0013t0017g0306others(4): Show | 8 | 342 | 0.0234 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+3555A>G | ||||||
|
chr1:22580893
|
A | G | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(41): Show |
a0000a0001a0002others(3): Show | a0000c0041a0000c0042a0001c0002others(15): Show | a0000c0041t0001a0000c0042t0003a0001c0002t0005others(22): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0002t0005g0022others(39): Show | 44 | 342 | 0.1287 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+4013A>G | ||||||
|
chr1:22580989
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(323): Show |
a0000a0001a0002others(16): Show | a0000c0007a0000c0041a0000c0042others(44): Show | a0000c0007t0001a0000c0007t0010a0000c0007t0035others(98): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(295): Show | 326 | 342 | 0.9532 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+4109A>G | ||||||
|
chr1:22582228
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(139): Show |
a0000a0001a0002others(9): Show | a0000c0007a0000c0041a0000c0042others(32): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(68): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(128): Show | 142 | 342 | 0.4152 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-4252G>A | ||||||
|
chr1:22582525
|
CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(139): Show |
a0000a0001a0002others(9): Show | a0000c0007a0000c0041a0000c0042others(32): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(68): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(128): Show | 142 | 342 | 0.4152 | -1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-3953delA | INFO_REALIGN_3_PRIME | |||||
|
chr1:22583224
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(139): Show |
a0000a0001a0002others(9): Show | a0000c0007a0000c0041a0000c0042others(32): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(68): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(128): Show | 142 | 342 | 0.4152 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-3256A>G | ||||||
|
chr1:22583387
|
G | A | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-3093G>A | ||||||
|
chr1:22583682
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(72): Show |
a0000a0001a0002others(6): Show | a0000c0007a0000c0041a0000c0042others(21): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(39): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(69): Show | 75 | 342 | 0.2193 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-2798T>C | ||||||
|
chr1:22583712
|
C | T | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-2768C>T | ||||||
|
chr1:22583733
|
C | A | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(51): Show |
a0000a0001a0002others(5): Show | a0000c0041a0000c0042a0001c0001others(17): Show | a0000c0041t0001a0000c0042t0003a0001c0001t0008others(26): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0001t0008g0146others(49): Show | 54 | 342 | 0.1579 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-2747C>A | ||||||
|
chr1:22584548
|
C | T | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-1932C>T | ||||||
|
chr1:22584734
|
C | T | intron_variant | MODIFIER | HG01106.hp2 HG02040.hp1 NA18957.hp2 others(3): Show |
a0001 | a0001c0001a0001c0013a0001c0017 | a0001c0001t0025a0001c0013t0017a0001c0017t0008 | a0001c0001t0025g0157a0001c0013t0017g0306a0001c0013t0017g0307others(3): Show | 6 | 342 | 0.0175 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-1746C>T | ||||||
|
chr1:22585023
|
T | TTC | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-1453_824-1452dupCT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22585159
|
C | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(140): Show |
a0000a0001a0002others(10): Show | a0000c0007a0000c0041a0000c0042others(33): Show | a0000c0007t0035a0000c0041t0001a0000c0042t0003others(69): Show | a0000c0007t0035g0006a0000c0041t0001g0031a0000c0042t0003g0106others(128): Show | 143 | 342 | 0.4181 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-1321C>G | ||||||
|
chr1:22585341
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(140): Show |
a0000a0001a0002others(10): Show | a0000c0007a0000c0041a0000c0042others(32): Show | a0000c0007t0035a0000c0041t0001a0000c0042t0003others(68): Show | a0000c0007t0035g0006a0000c0041t0001g0031a0000c0042t0003g0106others(128): Show | 143 | 342 | 0.4181 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-1139A>G | ||||||
|
chr1:22585512
|
T | A | intron_variant | MODIFIER | HG02040.hp1 HG02615.hp1 NA18957.hp2 others(3): Show |
a0001 | a0001c0002a0001c0013a0001c0017 | a0001c0002t0039a0001c0013t0017a0001c0017t0008 | a0001c0002t0039g0300a0001c0013t0017g0306a0001c0013t0017g0307others(3): Show | 6 | 342 | 0.0175 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-968T>A | ||||||
|
chr1:22586326
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0000a0001a0002others(16): Show | a0000c0007a0000c0041a0000c0042others(44): Show | a0000c0007t0001a0000c0007t0003a0000c0007t0010others(100): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(307): Show | 338 | 342 | 0.9883 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-154T>C | ||||||
|
chr1:22586660
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(184): Show |
a0000a0001a0002others(12): Show | a0000c0007a0000c0041a0000c0042others(35): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(78): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(171): Show | 187 | 342 | 0.5468 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 4/16 | c.979+25T>C | ||||||
|
chr1:22588266
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(195): Show |
a0000a0001a0002others(12): Show | a0000c0007a0000c0041a0000c0042others(35): Show | a0000c0007t0003a0000c0007t0010a0000c0007t0035others(82): Show | a0000c0007t0003g0197a0000c0007t0010g0158a0000c0007t0035g0006others(182): Show | 198 | 342 | 0.5790 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 4/16 | c.980-605A>G | ||||||
|
chr1:22588370
|
C | T | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 4/16 | c.980-501C>T | ||||||
|
chr1:22588537
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(185): Show |
a0000a0001a0002others(13): Show | a0000c0007a0000c0041a0000c0042others(36): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(79): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(172): Show | 188 | 342 | 0.5497 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 4/16 | c.980-334T>C | ||||||
|
chr1:22588689
|
G | A | intron_variant | MODIFIER | HG01109.hp1 HG02040.hp1 HG02055.hp2 others(23): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0011a0001c0013others(7): Show | a0001c0001t0002a0001c0011t0010a0001c0013t0017others(10): Show | a0001c0001t0002g0098a0001c0011t0010g0142a0001c0013t0017g0306others(20): Show | 26 | 342 | 0.0760 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 4/16 | c.980-182G>A | ||||||
|
chr1:22589260
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(182): Show |
a0000a0001a0002others(13): Show | a0000c0007a0000c0041a0000c0042others(36): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(79): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(170): Show | 185 | 342 | 0.5409 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1315+54T>C | ||||||
|
chr1:22589485
|
A | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(184): Show |
a0000a0001a0002others(12): Show | a0000c0007a0000c0041a0000c0042others(35): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(78): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(171): Show | 187 | 342 | 0.5468 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1315+279A>T | ||||||
|
chr1:22590247
|
C | T | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1315+1041C>T | ||||||
|
chr1:22590371
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(114): Show |
a0000a0001a0002others(8): Show | a0000c0007a0001c0001a0001c0002others(21): Show | a0000c0007t0035a0001c0001t0002a0001c0001t0003others(49): Show | a0000c0007t0035g0006a0001c0001t0002g0011a0001c0001t0002g0070others(103): Show | 117 | 342 | 0.3421 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1315+1165T>C | ||||||
|
chr1:22590419
|
C | T | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1315+1213C>T | ||||||
|
chr1:22590564
|
G | C | intron_variant | MODIFIER | HG02040.hp1 NA18957.hp2 NA18967.hp2 others(2): Show |
a0001 | a0001c0013a0001c0017 | a0001c0013t0017a0001c0017t0008 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308others(2): Show | 5 | 342 | 0.0146 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1315+1358G>C | ||||||
|
chr1:22591235
|
T | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(55): Show |
a0001a0005a0015others(1): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0007a0001c0001t0009a0001c0002t0002others(13): Show | a0001c0001t0007g0135a0001c0001t0007g0136a0001c0001t0007g0137others(55): Show | 58 | 342 | 0.1696 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1315+2029T>A | ||||||
|
chr1:22591388
|
A | ATT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(45): Show |
a0000a0001a0002others(3): Show | a0000c0007a0001c0001a0001c0002others(10): Show | a0000c0007t0035a0001c0001t0002a0001c0001t0003others(16): Show | a0000c0007t0035g0006a0001c0001t0002g0098a0001c0001t0003g0021others(39): Show | 48 | 342 | 0.1404 | 2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1316-1926_1316-1925dupTT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22591616
|
A | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(8): Show |
a0001 | a0001c0006a0001c0013 | a0001c0006t0004a0001c0006t0005a0001c0013t0017 | a0001c0006t0004g0288a0001c0006t0005g0207a0001c0006t0005g0212others(8): Show | 11 | 342 | 0.0322 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1316-1710A>T | ||||||
|
chr1:22592448
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(8): Show |
a0001 | a0001c0006a0001c0013 | a0001c0006t0004a0001c0006t0005a0001c0013t0017 | a0001c0006t0004g0288a0001c0006t0005g0207a0001c0006t0005g0212others(8): Show | 11 | 342 | 0.0322 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1316-878C>A | ||||||
|
chr1:22592673
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(8): Show |
a0001 | a0001c0006a0001c0013 | a0001c0006t0004a0001c0006t0005a0001c0013t0017 | a0001c0006t0004g0288a0001c0006t0005g0207a0001c0006t0005g0212others(8): Show | 11 | 342 | 0.0322 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1316-653G>A | ||||||
|
chr1:22592896
|
C | T | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0013 | a0001c0013t0017 | a0001c0013t0017g0306 | 1 | 342 | 0.0029 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1316-430C>T | ||||||
|
chr1:22594330
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(8): Show |
a0001 | a0001c0006a0001c0013 | a0001c0006t0004a0001c0006t0005a0001c0013t0017 | a0001c0006t0004g0288a0001c0006t0005g0207a0001c0006t0005g0212others(8): Show | 11 | 342 | 0.0322 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 7/16 | c.1603+644C>T | ||||||
|
chr1:22594970
|
A | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(36): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0006a0001c0009others(7): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(14): Show | a0001c0001t0002g0011a0001c0001t0002g0070a0001c0001t0002g0133others(33): Show | 39 | 342 | 0.1140 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 7/16 | c.1604-260A>C | ||||||
|
chr1:22595010
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(172): Show |
a0000a0001a0002others(11): Show | a0000c0007a0001c0001a0001c0002others(28): Show | a0000c0007t0035a0001c0001t0002a0001c0001t0003others(61): Show | a0000c0007t0035g0006a0001c0001t0002g0011a0001c0001t0002g0070others(159): Show | 175 | 342 | 0.5117 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 7/16 | c.1604-220T>C | ||||||
|
chr1:22595533
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(171): Show |
a0000a0001a0002others(11): Show | a0000c0007a0001c0001a0001c0002others(28): Show | a0000c0007t0035a0001c0001t0002a0001c0001t0003others(60): Show | a0000c0007t0035g0006a0001c0001t0002g0011a0001c0001t0002g0070others(158): Show | 174 | 342 | 0.5088 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 8/16 | c.1697+210T>G | ||||||
|
chr1:22596053
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00639.hp1 others(135): Show |
a0000a0001a0002others(8): Show | a0000c0007a0001c0001a0001c0002others(21): Show | a0000c0007t0035a0001c0001t0002a0001c0001t0003others(46): Show | a0000c0007t0035g0006a0001c0001t0002g0098a0001c0001t0003g0021others(125): Show | 138 | 342 | 0.4035 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 8/16 | c.1698-53G>A | ||||||
|
chr1:22596067
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(201): Show |
a0000a0001a0002others(13): Show | a0000c0007a0000c0041a0000c0042others(37): Show | a0000c0007t0035a0000c0041t0001a0000c0042t0003others(78): Show | a0000c0007t0035g0006a0000c0041t0001g0031a0000c0042t0003g0106others(187): Show | 204 | 342 | 0.5965 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 8/16 | c.1698-39G>A | ||||||
|
chr1:22596292
|
AG | A | intron_variant | MODIFIER | NA18957.hp2 NA18967.hp2 NA19057.hp1 |
a0001 | a0001c0013 | a0001c0013t0017 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308 | 3 | 342 | 0.0088 | -1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 9/16 | c.1765+120delG | ||||||
|
chr1:22596536
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(168): Show |
a0000a0001a0002others(11): Show | a0000c0007a0001c0001a0001c0002others(28): Show | a0000c0007t0035a0001c0001t0002a0001c0001t0003others(59): Show | a0000c0007t0035g0006a0001c0001t0002g0011a0001c0001t0002g0070others(155): Show | 171 | 342 | 0.5000 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 9/16 | c.1765+363A>G | ||||||
|
chr1:22596796
|
A | G | intron_variant | MODIFIER | NA18957.hp2 NA18967.hp2 NA19057.hp1 |
a0001 | a0001c0013 | a0001c0013t0017 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308 | 3 | 342 | 0.0088 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 9/16 | c.1766-516A>G | ||||||
|
chr1:22597871
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(9): Show |
a0001a0007 | a0001c0002a0001c0006a0001c0013others(1): Show | a0001c0002t0002a0001c0006t0004a0001c0006t0005others(2): Show | a0001c0002t0002g0012a0001c0006t0004g0288a0001c0006t0005g0207others(9): Show | 12 | 342 | 0.0351 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 11/16 | c.2116+10G>A | ||||||
|
chr1:22599120
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(99): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0006others(13): Show | a0001c0001t0009a0001c0002t0002a0001c0002t0004others(30): Show | a0001c0001t0009g0257a0001c0002t0002g0012a0001c0002t0002g0149others(92): Show | 102 | 342 | 0.2983 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+73C>A | ||||||
|
chr1:22599528
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00438.hp2 others(98): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0006others(19): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0024others(39): Show | a0001c0001t0002g0098a0001c0001t0009g0257a0001c0001t0024g0162others(93): Show | 101 | 342 | 0.2953 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+481G>A | ||||||
|
chr1:22599605
|
GGGAGGGA others(46): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02486.hp2 others(15): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0006a0001c0011others(6): Show | a0001c0002t0003a0001c0002t0010a0001c0006t0004others(10): Show | a0001c0002t0003g0280a0001c0002t0010g0165a0001c0006t0004g0288others(14): Show | 18 | 342 | 0.0526 | -53 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+575_2388+627delAAGGGAAGGAAGGAAGGGAGGGAGGGAAGGAAGGAAAGGAGGGAGGGAGGAAG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22599690
|
A | G | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01071.hp1 others(33): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0006others(9): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(18): Show | a0001c0001t0002g0011a0001c0001t0002g0070a0001c0001t0002g0133others(30): Show | 36 | 342 | 0.1053 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+643A>G | ||||||
|
chr1:22599716
|
AAGGGAGG others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(49): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0006a0001c0013others(10): Show | a0001c0002t0002a0001c0002t0039a0001c0002t0040others(16): Show | a0001c0002t0002g0012a0001c0002t0039g0300a0001c0002t0040g0060others(44): Show | 52 | 342 | 0.1521 | -20 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+681_2388+700delGAAGGAAGGAGGGAGGGAGG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22599827
|
G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(312): Show |
a0000a0001a0002others(16): Show | a0000c0007a0000c0041a0000c0042others(42): Show | a0000c0007t0001a0000c0007t0010a0000c0007t0035others(94): Show | a0000c0007t0001g0218a0000c0007t0001g0269a0000c0007t0010g0158others(286): Show | 315 | 342 | 0.9211 | 1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+781dupA | INFO_REALIGN_3_PRIME | |||||
|
chr1:22599922
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(338): Show |
a0000a0001a0002others(16): Show | a0000c0007a0000c0041a0000c0042others(44): Show | a0000c0007t0001a0000c0007t0003a0000c0007t0010others(100): Show | a0000c0007t0001g0005a0000c0007t0001g0218a0000c0007t0001g0269others(310): Show | 341 | 342 | 0.9971 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2389-739G>A | ||||||
|
chr1:22600067
|
T | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(90): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0006others(20): Show | a0001c0001t0002a0001c0001t0024a0001c0001t0025others(37): Show | a0001c0001t0002g0098a0001c0001t0024g0162a0001c0001t0025g0026others(81): Show | 93 | 342 | 0.2719 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2389-594T>C | ||||||
|
chr1:22600156
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(6): Show |
a0001 | a0001c0001a0001c0006a0001c0013 | a0001c0001t0002a0001c0006t0005a0001c0013t0017 | a0001c0001t0002g0098a0001c0006t0005g0207a0001c0006t0005g0212others(6): Show | 9 | 342 | 0.0263 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2389-505A>G | ||||||
|
chr1:22600157
|
GGAGGGAG others(16): Show |
G | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0013 | a0001c0013t0017 | a0001c0013t0017g0306 | 1 | 342 | 0.0029 | -23 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2389-501_2389-479delGGGAGGCAGGAAGGAAGGAAAGA | INFO_REALIGN_3_PRIME | |||||
|
chr1:22600190
|
A | G | intron_variant | MODIFIER | NA18957.hp2 NA18967.hp2 NA19057.hp1 |
a0001 | a0001c0013 | a0001c0013t0017 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308 | 3 | 342 | 0.0088 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2389-471A>G | ||||||
|
chr1:22600242
|
A | T | intron_variant | MODIFIER | NA18957.hp2 NA18967.hp2 NA19057.hp1 |
a0001 | a0001c0013 | a0001c0013t0017 | a0001c0013t0017g0306a0001c0013t0017g0307a0001c0013t0017g0308 | 3 | 342 | 0.0088 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2389-419A>T | ||||||
|
chr1:22600821
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(202): Show |
a0000a0001a0002others(13): Show | a0000c0007a0000c0041a0000c0042others(38): Show | a0000c0007t0001a0000c0007t0035a0000c0041t0001others(80): Show | a0000c0007t0001g0218a0000c0007t0035g0006a0000c0041t0001g0031others(188): Show | 205 | 342 | 0.5994 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 14/16 | c.2538+11A>G | ||||||
|
chr1:22600833
|
T | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(179): Show |
a0000a0001a0002others(12): Show | a0000c0007a0001c0001a0001c0002others(31): Show | a0000c0007t0001a0000c0007t0035a0001c0001t0002others(68): Show | a0000c0007t0001g0218a0000c0007t0035g0006a0001c0001t0002g0011others(165): Show | 182 | 342 | 0.5322 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 14/16 | c.2538+23T>G |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 1/0 | a0001 | 1005 | 265 | 67 | 62 | 89 | 12 | 34 | subcellular location copy fasta | chr1 | 22558489 | 22608595 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | c0013 | 3018 | 3 | 0 | 0 | 3 | 0 | 0 | copy fasta | chr1 | 22558489 | 22608595 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | t0017 | 1997 | 3 | 0 | 0 | 3 | 0 | 0 | copy fasta | chr1 | 22558489 | 22608595 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | g0306 | 1 | 0 | 0 | 1 | 0 | 0 | chr1 | 22558489 | 22608595 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | a0001c0013 | 3 | 0 | 0 | 3 | 0 | 0 | 3018 | copy fasta | chr1 | 22558489 | 22608595 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | a0001c0013t0017 | 3 | 0 | 0 | 3 | 0 | 0 | 5014 | copy fasta | chr1 | 22558489 | 22608595 |
| genename | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | a0001c0013t0017g0306 | 1 | 0 | 0 | 1 | 0 | 0 | chr1 | 22558489 | 22608595 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 22563729 | + | 1 | -0.7997 | -0.7997 | -0.7997 | 0.0000 | acceptor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22569289 | + | 2 | 0.8792 | 0.8792 | 0.8792 | 0.0000 | donor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22569353 | + | 2 | -0.9350 | -0.9350 | -0.9350 | 0.0000 | acceptor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22576217 | + | 3 | 0.9527 | 0.9526 | 0.9527 | 0.0000 | donor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22576880 | + | 3 | -0.8416 | -0.8416 | -0.8416 | 0.0000 | acceptor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22586480 | + | 4 | 0.9737 | 0.9737 | 0.9737 | 0.0000 | donor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22586635 | + | 4 | -0.9754 | -0.9754 | -0.9754 | 0.0000 | acceptor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22588871 | + | 5 | 0.9945 | 0.9945 | 0.9945 | 0.0000 | donor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22589206 | + | 5 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22593326 | + | 6 | 0.9779 | 0.9779 | 0.9779 | 0.0000 | donor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22593450 | + | 6 | -0.9952 | -0.9952 | -0.9952 | 0.0000 | acceptor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22593524 | + | 7 | 0.9922 | 0.9922 | 0.9922 | 0.0000 | donor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22593686 | + | 7 | -0.9855 | -0.9855 | -0.9855 | 0.0000 | acceptor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22595230 | + | 8 | 0.9955 | 0.9954 | 0.9955 | 0.0000 | donor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22595323 | + | 8 | -0.9973 | -0.9973 | -0.9973 | 0.0000 | acceptor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22596106 | + | 9 | 0.9848 | 0.9848 | 0.9848 | 0.0000 | donor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22596173 | + | 9 | -0.9979 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22597312 | + | 10 | 0.9870 | 0.9869 | 0.9870 | 0.0000 | donor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22597476 | + | 10 | -0.9989 | -0.9989 | -0.9989 | 0.0000 | acceptor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22597676 | + | 11 | 0.9948 | 0.9948 | 0.9948 | 0.0000 | donor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22597861 | + | 11 | -0.9914 | -0.9914 | -0.9914 | 0.0000 | acceptor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22598151 | + | 12 | 0.7983 | 0.7983 | 0.7983 | 0.0000 | donor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22598212 | + | 12 | -0.9867 | -0.9867 | -0.9867 | 0.0000 | acceptor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22598838 | + | 13 | 0.9687 | 0.9687 | 0.9687 | 0.0000 | donor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22599047 | + | 13 | -0.9972 | -0.9972 | -0.9972 | 0.0000 | acceptor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22600661 | + | 14 | 0.9987 | 0.9987 | 0.9987 | 0.0000 | donor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22600810 | + | 14 | -0.9986 | -0.9986 | -0.9986 | 0.0000 | acceptor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22600898 | + | 15 | 0.9856 | 0.9856 | 0.9856 | 0.0000 | donor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22601088 | + | 15 | -0.9291 | -0.9291 | -0.9291 | 0.0000 | acceptor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22601300 | + | 16 | 0.9873 | 0.9873 | 0.9873 | 0.0000 | donor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22601473 | + | 16 | -0.9839 | -0.9839 | -0.9839 | 0.0000 | acceptor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22601627 | + | 17 | 0.8967 | 0.8967 | 0.8967 | 0.0000 | donor | a0001c0013t0017g0306 | NA19057.hp1 | NA19057.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 22600821:splice 22600821:variant goto | c.2538+11A>G | 1266865 | Benign | EPHA8:2046 | SO:0001627 intron_variant |
MedGen:C3661900 | + | 16 | 41 | 83 | 191 | a0000a0001a0002a0003a0004others(11): Show | a0000c0007a0000c0041a0000c0042a0001c0001a0001c0002others(36): Show | a0000c0007t0001a0000c0007t0035a0000c0041t0001a0000c0042t0003a0001c0001t0001others(78): Show | a0000c0007t0001g0218a0000c0007t0035g0006a0000c0041t0001g0031a0000c0042t0003g0106a0001c0001t0001g0183others(186): Show | HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00438.hp2 HG00597.hp2 others(200): Show |
MODIFIER | chr1 | A | G | TogoVar |
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:22596053
|
c.1698-53G>A | Serum levels of protein C1QC0.421977 | a0000a0001a0002a0003a0005others(6): Show | a0000c0007a0001c0001a0001c0002a0001c0009a0001c0010others(19): Show | a0000c0007t0035a0001c0001t0002a0001c0001t0003a0001c0001t0008a0001c0001t0009others(44): Show | a0000c0007t0035g0006a0001c0001t0002g0098a0001c0001t0003g0021a0001c0001t0003g0051a0001c0001t0003g0270others(123): Show | HG00140.hp2 HG00438.hp2 HG00639.hp1 HG00642.hp2 HG00733.hp1 others(133): Show |
A genome-wide association study of serum proteins others(41): Show |
5,368 Icelandic ancestry individuals/ | EPHA8 | rs209692-A | + | MODIFIER | chr1 | G | A |