| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:22576609
|
C | T | 0.0994 | synonymous_variant | LOW | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(31): Show |
a0001a0002a0017 | a0001c0010a0001c0020a0002c0003others(2): Show | a0001c0010t0002a0001c0010t0007a0001c0010t0009others(9): Show | a0001c0010t0002g0093a0001c0010t0007g0080a0001c0010t0009g0029others(27): Show | 34 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/17 | c.552C>T | p.Ala184Ala | 699/5019 | 552/3018 | 184/1005 | ||
|
chr1:22593411
|
C | T | 0.3012 | synonymous_variant | LOW | HG00438.hp2 HG00639.hp1 HG00733.hp2 others(100): Show |
a0000a0001a0002others(8): Show | a0000c0041a0000c0042a0001c0002others(19): Show | a0000c0041t0001a0000c0042t0003a0001c0002t0002others(41): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0002t0002g0012others(97): Show | 103 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 6/17 | c.1401C>T | p.Asn467Asn | 1548/5019 | 1401/3018 | 467/1005 |
| 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 | |||||
|
chr1:22601856
|
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 | |||||
|
chr1:22602011
|
A | G | 0.0760 | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00733.hp2 others(23): Show |
a0001a0003a0013 | a0001c0002a0001c0008a0001c0016others(5): Show | a0001c0002t0006a0001c0002t0045a0001c0008t0006others(8): Show | a0001c0002t0006g0014a0001c0002t0006g0100a0001c0002t0006g0208others(20): Show | 26 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 17/17 | c.*270A>G | 270 | |||||
|
chr1:22602150
|
C | T | 0.0760 | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00733.hp2 others(23): Show |
a0001a0003a0013 | a0001c0002a0001c0008a0001c0016others(5): Show | a0001c0002t0006a0001c0002t0045a0001c0008t0006others(8): Show | a0001c0002t0006g0014a0001c0002t0006g0100a0001c0002t0006g0208others(20): Show | 26 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 17/17 | c.*409C>T | 409 | |||||
|
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 | |||||
|
chr1:22602402
|
C | T | 0.0760 | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG00733.hp2 others(23): Show |
a0001a0003a0013 | a0001c0002a0001c0008a0001c0016others(5): Show | a0001c0002t0006a0001c0002t0045a0001c0008t0006others(8): Show | a0001c0002t0006g0014a0001c0002t0006g0100a0001c0002t0006g0208others(20): Show | 26 | 342 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 17/17 | c.*661C>T | 661 | |||||
|
chr1:22603370
|
T | TG | 0.0702 | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01192.hp2 others(21): Show |
a0001a0003a0010others(1): Show | a0001c0002a0001c0008a0001c0016others(6): Show | a0001c0002t0006a0001c0008t0006a0001c0008t0012others(7): Show | a0001c0002t0006g0014a0001c0002t0006g0100a0001c0002t0006g0208others(18): Show | 24 | 342 | 1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 17/17 | c.*1638dupG | 1639 | INFO_REALIGN_3_PRIME |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:22563886
|
G | A | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(4): Show |
a0001a0004 | a0001c0001a0001c0020a0001c0022others(1): Show | a0001c0001t0025a0001c0020t0012a0001c0022t0004others(1): Show | a0001c0001t0025g0026a0001c0020t0012g0024a0001c0022t0004g0027others(3): Show | 7 | 342 | 0.0205 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.94+157G>A | ||||||
|
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 | ||||||
|
chr1:22567050
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00642.hp2 others(51): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0010others(8): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0024others(19): Show | a0001c0001t0002g0070a0001c0001t0002g0098a0001c0001t0007g0072others(44): Show | 54 | 342 | 0.1579 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.95-2239G>A | ||||||
|
chr1:22567214
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00642.hp2 others(34): Show |
a0001a0002a0017 | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0007a0001c0002t0005a0001c0010t0002others(11): Show | a0001c0001t0007g0072a0001c0002t0005g0073a0001c0002t0005g0074others(30): Show | 37 | 342 | 0.1082 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.95-2075G>A | ||||||
|
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 | ||||||
|
chr1:22567443
|
C | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(100): Show |
a0000a0001a0002others(9): Show | a0000c0007a0001c0001a0001c0002others(16): Show | a0000c0007t0010a0000c0007t0035a0001c0001t0002others(46): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0001c0001t0002g0070others(91): Show | 103 | 342 | 0.3012 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.95-1846C>A | ||||||
|
chr1:22567616
|
G | A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0020 | a0001c0020t0012 | a0001c0020t0012g0024 | 1 | 342 | 0.0029 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.95-1673G>A | ||||||
|
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 | ||||||
|
chr1:22568301
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(96): Show |
a0000a0001a0002others(7): Show | a0000c0007a0001c0001a0001c0002others(14): Show | a0000c0007t0010a0000c0007t0035a0001c0001t0002others(43): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0001c0001t0002g0070others(87): Show | 99 | 342 | 0.2895 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 1/16 | c.95-988A>G | ||||||
|
chr1:22570001
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(33): Show |
a0001a0002a0017 | a0001c0002a0001c0010a0001c0020others(3): Show | a0001c0002t0005a0001c0010t0002a0001c0010t0007others(10): Show | a0001c0002t0005g0073a0001c0002t0005g0074a0001c0010t0002g0093others(29): Show | 36 | 342 | 0.1053 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.159+648C>T | ||||||
|
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 | ||||||
|
chr1:22570440
|
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 | ||||||
|
chr1:22572518
|
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 | ||||||
|
chr1:22573021
|
G | A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(33): Show |
a0001a0002a0017 | a0001c0002a0001c0010a0001c0020others(3): Show | a0001c0002t0005a0001c0010t0002a0001c0010t0007others(10): Show | a0001c0002t0005g0073a0001c0002t0005g0074a0001c0010t0002g0093others(29): Show | 36 | 342 | 0.1053 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-3196G>A | ||||||
|
chr1:22575147
|
C | T | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(31): Show |
a0001a0002a0017 | a0001c0010a0001c0020a0002c0003others(2): Show | a0001c0010t0002a0001c0010t0007a0001c0010t0009others(9): Show | a0001c0010t0002g0093a0001c0010t0007g0080a0001c0010t0009g0029others(27): Show | 34 | 342 | 0.0994 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-1070C>T | ||||||
|
chr1:22575250
|
CTTATTA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(71): Show |
a0000a0001a0002others(4): Show | a0000c0007a0001c0001a0001c0002others(11): Show | a0000c0007t0010a0001c0001t0002a0001c0001t0010others(33): Show | a0000c0007t0010g0158a0001c0001t0002g0070a0001c0001t0010g0168others(65): Show | 74 | 342 | 0.2164 | -6 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 2/16 | c.160-961_160-956delATTATT | INFO_REALIGN_3_PRIME | |||||
|
chr1:22577339
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(31): Show |
a0001a0002a0017 | a0001c0010a0001c0020a0002c0003others(2): Show | a0001c0010t0002a0001c0010t0007a0001c0010t0009others(9): Show | a0001c0010t0002g0093a0001c0010t0007g0080a0001c0010t0009g0029others(27): Show | 34 | 342 | 0.0994 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+459T>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 | |||||
|
chr1:22577931
|
G | GAGTGTAT others(51): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0020 | a0001c0020t0012 | a0001c0020t0012g0024 | 1 | 342 | 0.0029 | 58 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1051_823+1052insAGTGTATGCATGTGTGTGCATGTGCGTATGTGTGCATGTGTGCATGTGTGCGTGTGTA | ||||||
|
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 | C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01891.hp1 others(1): Show |
a0001 | a0001c0002a0001c0020 | a0001c0002t0005a0001c0020t0012 | a0001c0002t0005g0022a0001c0002t0005g0064a0001c0020t0012g0024 | 4 | 342 | 0.0117 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1058T>C | ||||||
|
chr1:22577948
|
A | T | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01069.hp1 others(47): Show |
a0000a0001a0002others(4): Show | a0000c0041a0000c0042a0001c0001others(17): Show | a0000c0041t0001a0000c0042t0003a0001c0001t0001others(27): Show | a0000c0041t0001g0031a0000c0042t0003g0106a0001c0001t0001g0013others(44): Show | 50 | 342 | 0.1462 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1068A>T | ||||||
|
chr1:22577949
|
G | GAGTGTA | intron_variant | MODIFIER | HG01891.hp1 HG02559.hp2 HG06807.hp1 |
a0001 | a0001c0020a0001c0022 | a0001c0020t0012a0001c0022t0004 | a0001c0020t0012g0024a0001c0022t0004g0027a0001c0022t0004g0028 | 3 | 342 | 0.0088 | 6 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1069_823+1070insAGTGTA | ||||||
|
chr1:22577987
|
G | GTGTGCAT others(1190): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0020 | a0001c0020t0012 | a0001c0020t0012g0024 | 1 | 342 | 0.0029 | 1197 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1109_823+1110insTGCATGTGTGCGTGAGTGTATGTGTGTATGTATGCGTGTGTGTGCATGTGTGCGTGAGTATGTGCATTGAGTGCATGCACATGTGTGCATGAGTATGTATGCGTGTATTCGTGTGTGCATGTGCGTGAGTGTATGTGCATGTGTGCATGTATGCGTATGTATGCATGCGTGTGCATGTGTGTGACTATATGCATGTGTGTATGTGCATGTGTGTGAGCGTATGTATGCATGTGTGTGCCTGTGTGCGAGTGTACGCATATGTGCGCATGTGTGCGTGAATGTGCATGTGTGCATTTTTGTATGCATGTGTTTGCGCATGTGTGCGTTGAGTATTGTGCATGTGTGCATGAGTGTATATGTGCATGTGTACGTGTGCATGTGTGCGTGGGTGTATGCATGTGCGTGTGCATGAGTGTATGTGTGCGTTTGTGTGCGTGTGCGTGAGTGTACCAATGTGTGTGCATGAGTGTGTGCATATGTGTGCATGAGTGTATGTGCATCTGTGCAGTTGTGTGCATCTGCGTGAGTATGTGCATGTGTGCGTGAGTGTATGTATGCATGTCTATGTATACGTGTGCATGTGTGTATGTGTGCGTGTGTGCATATGTGCGTGAGTGTGCATGTGTGCATGTGTGCATGAGTGTATGTATGCATGTATGTGTGTGCCTGTGTGCATGTGTGTGTGCCTGTGTGTGTGCATGTGTGCATGTGCGTGAGTGTATGTGTGTGCGTGTGTGTGTGCAATGTGCGTGTGCATGTGTGTGAGTGTATGCATGTGTGCGTGCACATGTGTGCGAGTGTATGTGTGCATGTGTGCATGAGTGTTCATGTGTGTGCATGTGCATGAGTGTATATATGCGTGAGTGTATGCATGTGTGCGTGTGTGCATGTATGTGCATGTGTGCGTGAGTGTACGCATGTGTGCATGAATGTGTGCATGTGTGCATTTTTGTATGCATGTTTGCGCATGTGTGCGTTGAGTATTGTGCATGTGTGCATGTTTGTGTGCATGTGTATGTGTGCATGTGTGCGTGAGTGTATGCATGTGTGTGCATGTGCCAGTGTAGTGTGCTTGTGTGTGCATGTGTGCATGTGTGTGCATGTGTGCATGTGTGCATATGTATGCATGTGCATGTGTGCATCTGTGTGTGTGCATGTGTGTGCATGTGTGCGTATGTATGCATGTGTGCGTGAATG | 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 | ||||||
|
chr1:22578191
|
TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(36): Show |
a0001a0002a0010others(1): Show | a0001c0002a0001c0010a0001c0020others(5): Show | a0001c0002t0007a0001c0002t0045a0001c0010t0002others(14): Show | a0001c0002t0007g0173a0001c0002t0045g0172a0001c0010t0002g0093others(32): Show | 39 | 342 | 0.1140 | -12 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1313_823+1324delTGTGTGCGTGCG | 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 | ||||||
|
chr1:22578654
|
C | A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(31): Show |
a0001a0002a0017 | a0001c0010a0001c0020a0002c0003others(2): Show | a0001c0010t0002a0001c0010t0007a0001c0010t0009others(9): Show | a0001c0010t0002g0093a0001c0010t0007g0080a0001c0010t0009g0029others(27): Show | 34 | 342 | 0.0994 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1774C>A | ||||||
|
chr1:22578697
|
C | CTG | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01074.hp2 others(45): Show |
a0000a0001a0002others(3): Show | a0000c0007a0001c0001a0001c0002others(7): Show | a0000c0007t0035a0001c0001t0002a0001c0001t0008others(16): Show | a0000c0007t0035g0006a0001c0001t0002g0098a0001c0001t0008g0006others(40): Show | 48 | 342 | 0.1404 | 2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+1825_823+1826dupGT | INFO_REALIGN_3_PRIME | |||||
|
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 | ||||||
|
chr1:22578901
|
ATGTG | A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(35): Show |
a0000a0001a0002others(1): Show | a0000c0007a0001c0001a0001c0010others(4): Show | a0000c0007t0035a0001c0001t0008a0001c0010t0002others(11): Show | a0000c0007t0035g0006a0001c0001t0008g0006a0001c0001t0008g0301others(30): Show | 38 | 342 | 0.1111 | -4 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2023_823+2026delGTGT | 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 | ||||||
|
chr1:22578949
|
ATG | A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(31): Show |
a0001a0002a0017 | a0001c0010a0001c0020a0002c0003others(2): Show | a0001c0010t0002a0001c0010t0007a0001c0010t0009others(9): Show | a0001c0010t0002g0093a0001c0010t0007g0080a0001c0010t0009g0029others(27): Show | 34 | 342 | 0.0994 | -2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2075_823+2076delGT | INFO_REALIGN_3_PRIME | |||||
|
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 | ||||||
|
chr1:22579167
|
ATG | A | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(31): Show |
a0001a0002a0017 | a0001c0001a0001c0010a0001c0020others(3): Show | a0001c0001t0001a0001c0010t0002a0001c0010t0007others(10): Show | a0001c0001t0001g0242a0001c0010t0002g0093a0001c0010t0007g0080others(27): Show | 34 | 342 | 0.0994 | -2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2294_823+2295delTG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22579354
|
C | CGT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(96): Show |
a0000a0001a0002others(6): Show | a0000c0007a0000c0041a0000c0042others(25): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(49): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(88): Show | 99 | 342 | 0.2895 | 2 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+2481_823+2482dupGT | 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 | ||||||
|
chr1:22580127
|
CT | C | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG01106.hp2 others(20): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0016others(13): Show | a0001c0001t0003g0272a0001c0001t0010g0168a0001c0001t0010g0170others(19): Show | 23 | 342 | 0.0673 | -1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.823+3274delT | INFO_REALIGN_3_PRIME | |||||
|
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 | ||||||
|
chr1:22584256
|
G | A | intron_variant | MODIFIER | HG01891.hp1 HG02965.hp2 |
a0001 | a0001c0020 | a0001c0020t0012a0001c0020t0048 | a0001c0020t0012g0024a0001c0020t0048g0095 | 2 | 342 | 0.0059 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-2224G>A | ||||||
|
chr1:22584670
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(134): Show |
a0000a0001a0002others(9): Show | a0000c0007a0000c0041a0000c0042others(30): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(67): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(123): Show | 137 | 342 | 0.4006 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-1810A>G | ||||||
|
chr1:22584885
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(125): Show |
a0000a0001a0002others(8): Show | a0000c0007a0000c0041a0000c0042others(29): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(64): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(114): Show | 128 | 342 | 0.3743 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-1595G>A | ||||||
|
chr1:22585050
|
T | TGTGTGTG others(7): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(6): Show |
a0001 | a0001c0002a0001c0006a0001c0011others(1): Show | a0001c0002t0004a0001c0006t0004a0001c0006t0005others(2): Show | a0001c0002t0004g0127a0001c0006t0004g0288a0001c0006t0005g0282others(6): Show | 9 | 342 | 0.0263 | 14 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-1429_824-1428insTGTGTGTGCGCGCG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22585052
|
C | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(125): Show |
a0000a0001a0002others(8): Show | a0000c0007a0000c0041a0000c0042others(26): Show | a0000c0007t0035a0000c0041t0001a0000c0042t0003others(60): Show | a0000c0007t0035g0006a0000c0041t0001g0031a0000c0042t0003g0106others(114): Show | 128 | 342 | 0.3743 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-1428C>T | ||||||
|
chr1:22585055
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(134): Show |
a0000a0001a0002others(10): Show | a0000c0007a0000c0041a0000c0042others(31): Show | a0000c0007t0035a0000c0041t0001a0000c0042t0003others(66): Show | a0000c0007t0035g0006a0000c0041t0001g0031a0000c0042t0003g0106others(123): Show | 137 | 342 | 0.4006 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-1425A>G | ||||||
|
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 | ||||||
|
chr1:22585948
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(178): Show |
a0000a0001a0002others(12): Show | a0000c0007a0000c0041a0000c0042others(33): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(75): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(165): Show | 181 | 342 | 0.5292 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-532A>G | ||||||
|
chr1:22586300
|
GC | G | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(31): Show |
a0001a0002a0017 | a0001c0001a0001c0010a0001c0020others(3): Show | a0001c0001t0007a0001c0010t0002a0001c0010t0007others(9): Show | a0001c0001t0007g0138a0001c0010t0002g0093a0001c0010t0007g0080others(27): Show | 34 | 342 | 0.0994 | -1 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-175delC | INFO_REALIGN_3_PRIME | |||||
|
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 | ||||||
|
chr1:22586372
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(178): Show |
a0000a0001a0002others(12): Show | a0000c0007a0000c0041a0000c0042others(33): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(75): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(165): Show | 181 | 342 | 0.5292 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 3/16 | c.824-108A>G | ||||||
|
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 | ||||||
|
chr1:22586781
|
G | GGGGT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(85): Show |
a0000a0001a0002others(6): Show | a0000c0007a0001c0001a0001c0002others(16): Show | a0000c0007t0035a0001c0001t0002a0001c0001t0003others(39): Show | a0000c0007t0035g0006a0001c0001t0002g0070a0001c0001t0002g0098others(78): Show | 88 | 342 | 0.2573 | 4 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 4/16 | c.979+149_979+150insTGGG | INFO_REALIGN_3_PRIME | |||||
|
chr1:22587113
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(71): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0006others(15): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(36): Show | a0001c0001t0002g0070a0001c0001t0002g0098a0001c0001t0002g0143others(66): Show | 74 | 342 | 0.2164 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 4/16 | c.979+478G>A | ||||||
|
chr1:22587427
|
G | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(71): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0006others(15): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(36): Show | a0001c0001t0002g0070a0001c0001t0002g0098a0001c0001t0002g0143others(66): Show | 74 | 342 | 0.2164 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 4/16 | c.979+792G>T | ||||||
|
chr1:22587490
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(72): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0006others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(37): Show | a0001c0001t0001g0303a0001c0001t0002g0070a0001c0001t0002g0098others(67): Show | 75 | 342 | 0.2193 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 4/16 | c.979+855G>A | ||||||
|
chr1:22587500
|
A | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(182): Show |
a0000a0001a0002others(12): Show | a0000c0007a0000c0041a0000c0042others(33): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(77): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(169): Show | 185 | 342 | 0.5409 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 4/16 | c.979+865A>G | ||||||
|
chr1:22588251
|
A | ACCCCAGC others(9): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03098.hp1 HG03225.hp2 |
a0001 | a0001c0001a0001c0002a0001c0020 | a0001c0001t0024a0001c0002t0004a0001c0020t0012 | a0001c0001t0024g0162a0001c0002t0004g0221a0001c0020t0012g0024 | 3 | 342 | 0.0088 | 16 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 4/16 | c.980-606_980-605insGCCCCCAGCCCCTCAG | INFO_REALIGN_3_PRIME | |||||
|
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 | ||||||
|
chr1:22588358
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(178): Show |
a0000a0001a0002others(12): Show | a0000c0007a0000c0041a0000c0042others(33): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(76): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(165): Show | 181 | 342 | 0.5292 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 4/16 | c.980-513G>A | ||||||
|
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 | ||||||
|
chr1:22588588
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(175): Show |
a0000a0001a0002others(12): Show | a0000c0007a0000c0041a0000c0042others(33): Show | a0000c0007t0010a0000c0007t0035a0000c0041t0001others(74): Show | a0000c0007t0010g0158a0000c0007t0035g0006a0000c0041t0001g0031others(162): Show | 178 | 342 | 0.5205 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 4/16 | c.980-283G>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 | ||||||
|
chr1:22589398
|
A | T | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00733.hp1 others(32): Show |
a0001a0002a0017 | a0001c0001a0001c0010a0001c0020others(4): Show | a0001c0001t0007a0001c0010t0002a0001c0010t0007others(10): Show | a0001c0001t0007g0138a0001c0010t0002g0093a0001c0010t0007g0080others(28): Show | 35 | 342 | 0.1023 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1315+192A>T | ||||||
|
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 | ||||||
|
chr1:22590178
|
G | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(42): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0007a0001c0002t0040a0001c0006t0005others(14): Show | a0001c0001t0007g0138a0001c0002t0040g0060a0001c0006t0005g0207others(38): Show | 45 | 342 | 0.1316 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 5/16 | c.1315+972G>A | ||||||
|
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 | ||||||
|
chr1:22594958
|
C | G | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0020 | a0001c0020t0012 | a0001c0020t0012g0024 | 1 | 342 | 0.0029 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 7/16 | c.1604-272C>G | ||||||
|
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 | ||||||
|
chr1:22595919
|
G | A | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01192.hp2 others(21): Show |
a0001a0003a0013others(1): Show | a0001c0002a0001c0016a0001c0020others(6): Show | a0001c0002t0006a0001c0002t0010a0001c0002t0045others(9): Show | a0001c0002t0006g0014a0001c0002t0006g0100a0001c0002t0006g0208others(20): Show | 24 | 342 | 0.0702 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 8/16 | c.1698-187G>A | ||||||
|
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 | ||||||
|
chr1:22596536
|
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 | ||||||
|
chr1:22597971
|
T | C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp1 others(74): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0016others(15): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(29): Show | a0001c0001t0002g0011a0001c0001t0002g0070a0001c0001t0002g0133others(67): Show | 77 | 342 | 0.2252 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 11/16 | c.2116+110T>C | ||||||
|
chr1:22599622
|
A | G | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00639.hp1 others(120): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0002a0001c0008others(20): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0024others(44): Show | a0001c0001t0002g0098a0001c0001t0009g0257a0001c0001t0024g0162others(111): Show | 123 | 342 | 0.3597 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+575A>G | ||||||
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chr1:22599635
|
A | G | intron_variant | MODIFIER | HG00733.hp2 HG01192.hp2 HG01255.hp2 others(17): Show |
a0001a0013 | a0001c0002a0001c0008a0001c0016others(4): Show | a0001c0002t0006a0001c0008t0006a0001c0008t0012others(6): Show | a0001c0002t0006g0014a0001c0002t0006g0100a0001c0002t0006g0209others(15): Show | 20 | 342 | 0.0585 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+588A>G | ||||||
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chr1:22599644
|
AGGGAAGG others(67): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01192.hp2 HG01255.hp2 others(17): Show |
a0001a0013 | a0001c0002a0001c0008a0001c0016others(4): Show | a0001c0002t0006a0001c0008t0006a0001c0008t0012others(6): Show | a0001c0002t0006g0014a0001c0002t0006g0100a0001c0002t0006g0209others(15): Show | 20 | 342 | 0.0585 | -74 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+600_2388+673delGAAGGAAGGAAAGGAGGGAGGGAGGAAGGAGGGAAGGAAGGAAAGGAGGGAGGGAGGAAGGAGGGAAGGAAGGG | INFO_REALIGN_3_PRIME | |||||
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chr1:22599722
|
G | A | intron_variant | MODIFIER | HG00733.hp2 HG01192.hp2 HG01255.hp2 others(27): Show |
a0001a0002a0013 | a0001c0002a0001c0008a0001c0016others(5): Show | a0001c0002t0006a0001c0008t0006a0001c0008t0012others(10): Show | a0001c0002t0006g0014a0001c0002t0006g0100a0001c0002t0006g0209others(23): Show | 30 | 342 | 0.0877 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+675G>A | ||||||
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chr1:22599733
|
AAGG | A | intron_variant | MODIFIER | HG00733.hp2 HG01192.hp2 HG01255.hp2 others(31): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0008others(8): Show | a0001c0001t0001a0001c0001t0024a0001c0002t0006others(14): Show | a0001c0001t0001g0199a0001c0001t0024g0162a0001c0002t0006g0014others(27): Show | 34 | 342 | 0.0994 | -3 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2388+690_2388+692delAGG | 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 | ||||||
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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 | ||||||
|
chr1:22600140
|
A | AGGAG | intron_variant | MODIFIER | HG00639.hp1 HG01192.hp2 HG01255.hp2 others(20): Show |
a0001a0013 | a0001c0002a0001c0008a0001c0016others(4): Show | a0001c0002t0004a0001c0002t0006a0001c0002t0045others(8): Show | a0001c0002t0004g0120a0001c0002t0006g0014a0001c0002t0006g0100others(18): Show | 23 | 342 | 0.0673 | 4 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 13/16 | c.2389-509_2389-506dupGGGA | INFO_REALIGN_3_PRIME | |||||
|
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 | ||||||
|
chr1:22601179
|
G | A | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01192.hp2 others(20): Show |
a0001a0013 | a0001c0002a0001c0008a0001c0016others(4): Show | a0001c0002t0006a0001c0002t0045a0001c0008t0006others(7): Show | a0001c0002t0006g0014a0001c0002t0006g0100a0001c0002t0006g0208others(18): Show | 23 | 342 | 0.0673 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 15/16 | c.2729+91G>A | ||||||
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chr1:22601518
|
G | C | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0020 | a0001c0020t0012 | a0001c0020t0012g0024 | 1 | 342 | 0.0029 | 0 | EPHA8 | ENSG00000070886.12 | transcript | ENST00000166244.8 | protein_coding | 16/16 | c.2903+45G>C |
| 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 | c0020 | 3018 | 2 | 2 | 0 | 0 | 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 | t0012 | 1998 | 5 | 1 | 2 | 0 | 0 | 2 | copy fasta | chr1 | 22558489 | 22608595 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| EPHA8 | 0/0 | g0024 | 1 | 1 | 0 | 0 | 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 | a0001c0020 | 2 | 2 | 0 | 0 | 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 | a0001c0020t0012 | 1 | 1 | 0 | 0 | 0 | 0 | 5015 | 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 | a0001c0020t0012g0024 | 1 | 1 | 0 | 0 | 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 | -0.7809 | -0.7809 | -0.7809 | 0.0000 | acceptor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22569289 | + | 2 | 0.8911 | 0.8911 | 0.8911 | 0.0000 | donor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22569353 | + | 2 | -0.9320 | -0.9320 | -0.9320 | 0.0000 | acceptor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22576217 | + | 3 | 0.9692 | 0.9692 | 0.9692 | 0.0000 | donor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22576880 | + | 3 | -0.7758 | -0.7758 | -0.7758 | 0.0000 | acceptor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22586480 | + | 4 | 0.9723 | 0.9723 | 0.9723 | 0.0000 | donor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22586635 | + | 4 | -0.9817 | -0.9817 | -0.9817 | 0.0000 | acceptor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22588871 | + | 5 | 0.9956 | 0.9956 | 0.9956 | 0.0000 | donor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22589206 | + | 5 | -0.9979 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22593326 | + | 6 | 0.9778 | 0.9778 | 0.9778 | 0.0000 | donor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22593450 | + | 6 | -0.9946 | -0.9946 | -0.9946 | 0.0000 | acceptor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22593524 | + | 7 | 0.9926 | 0.9926 | 0.9926 | 0.0000 | donor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22593686 | + | 7 | -0.9860 | -0.9859 | -0.9860 | 0.0000 | acceptor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22595230 | + | 8 | 0.9955 | 0.9955 | 0.9955 | 0.0000 | donor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22595323 | + | 8 | -0.9974 | -0.9974 | -0.9974 | 0.0000 | acceptor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22596106 | + | 9 | 0.9830 | 0.9830 | 0.9830 | 0.0000 | donor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22596173 | + | 9 | -0.9979 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22597312 | + | 10 | 0.9854 | 0.9854 | 0.9854 | 0.0000 | donor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22597476 | + | 10 | -0.9989 | -0.9989 | -0.9989 | 0.0000 | acceptor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22597676 | + | 11 | 0.9951 | 0.9951 | 0.9951 | 0.0000 | donor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22597861 | + | 11 | -0.9929 | -0.9929 | -0.9929 | 0.0000 | acceptor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22598151 | + | 12 | 0.8903 | 0.8903 | 0.8903 | 0.0000 | donor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22598212 | + | 12 | -0.9823 | -0.9823 | -0.9823 | 0.0000 | acceptor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22598838 | + | 13 | 0.9701 | 0.9701 | 0.9701 | 0.0000 | donor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22599047 | + | 13 | -0.9975 | -0.9975 | -0.9975 | 0.0000 | acceptor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22600661 | + | 14 | 0.9987 | 0.9987 | 0.9987 | 0.0000 | donor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22600810 | + | 14 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22600898 | + | 15 | 0.9866 | 0.9866 | 0.9866 | 0.0000 | donor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22601088 | + | 15 | -0.9407 | -0.9407 | -0.9407 | 0.0000 | acceptor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22601300 | + | 16 | 0.9863 | 0.9863 | 0.9863 | 0.0000 | donor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22601473 | + | 16 | -0.9855 | -0.9855 | -0.9855 | 0.0000 | acceptor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.hp1 | EPHA8 | chr1 | 22558489 | 22608595 |
| 22601627 | + | 17 | 0.8938 | 0.8938 | 0.8938 | 0.0000 | donor | a0001c0020t0012g0024 | HG01891.hp1 | HG01891.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 |