| geneid | 165055 |
|---|---|
| ensemblid | ENSG00000163006.12 |
| hgncid | 26531 |
| symbol | CCDC138 |
| name | coiled-coil domain containing 138 |
| refseq_nuc | NM_144978.3 |
| refseq_prot | NP_659415.1 |
| ensembl_nuc | ENST00000295124.9 |
| ensembl_prot | ENSP00000295124.4 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 108786771 |
| end | 108876578 |
| strand | + |
| ver | v1.2 |
| region | chr2:108786771-108876578 |
| region5000 | chr2:108781771-108881578 |
| regionname0 | CCDC138_chr2_108786771_108876578 |
| regionname5000 | CCDC138_chr2_108781771_108881578 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:108791703
|
G | T | 0.1682 | missense_variant | MODERATE | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(34): Show |
a0003a0007a0008 | a0003c0003a0007c0014a0008c0015 | a0003c0003t0001a0007c0014t0001a0008c0015t0001 | a0003c0003t0001g0002a0003c0003t0001g0121a0003c0003t0001g0135others(33): Show | 37 | 220 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 4/15 | c.295G>T | p.Asp99Tyr | 347/2375 | 295/1998 | 99/665 | ||
|
chr2:108791752
|
G | A | 0.3636 | missense_variant | MODERATE | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(77): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0127a0002c0002t0001g0128a0002c0002t0001g0129others(76): Show | 80 | 220 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 4/15 | c.344G>A | p.Arg115Lys | 396/2375 | 344/1998 | 115/665 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:108876451
|
A | G | 0.9682 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(210): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(208): Show | 213 | 220 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 15/15 | c.*198A>G | 198 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:108788018
|
C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(76): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0127a0002c0002t0001g0128a0002c0002t0001g0129others(75): Show | 79 | 220 | 0.3591 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 1/14 | c.94-3dupT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108789330
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(77): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0127a0002c0002t0001g0128a0002c0002t0001g0129others(76): Show | 80 | 220 | 0.3636 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 3/14 | c.266+364C>T | ||||||
|
chr2:108790913
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(127): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0005a0001c0006others(8): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(13): Show | a0001c0004t0001g0009a0001c0004t0001g0011a0001c0004t0001g0012others(126): Show | 130 | 220 | 0.5909 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 3/14 | c.267-762A>G | ||||||
|
chr2:108791042
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(210): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(208): Show | 213 | 220 | 0.9682 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 3/14 | c.267-633G>A | ||||||
|
chr2:108792320
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(120): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0005a0001c0012others(7): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(12): Show | a0001c0004t0001g0009a0001c0004t0001g0011a0001c0004t0001g0012others(119): Show | 123 | 220 | 0.5591 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 4/14 | c.394+518T>C | ||||||
|
chr2:108793193
|
TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(77): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0007others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(7): Show | a0002c0002t0001g0127a0002c0002t0001g0128a0002c0002t0001g0129others(76): Show | 80 | 220 | 0.3636 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 4/14 | c.395-1336delA | INFO_REALIGN_3_PRIME | |||||
|
chr2:108794182
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(78): Show |
a0001a0002a0003others(5): Show | a0001c0004a0002c0002a0003c0003others(5): Show | a0001c0004t0001a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0004t0001g0198a0002c0002t0001g0127a0002c0002t0001g0128others(77): Show | 81 | 220 | 0.3682 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 4/14 | c.395-358C>T | ||||||
|
chr2:108797354
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(42): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0012a0002c0002others(3): Show | a0001c0004t0001a0001c0012t0001a0002c0002t0001others(3): Show | a0001c0004t0001g0009a0001c0004t0001g0011a0001c0004t0001g0012others(41): Show | 45 | 220 | 0.2046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 5/14 | c.577-1074G>A | ||||||
|
chr2:108797933
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(171): Show | 176 | 220 | 0.8000 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 5/14 | c.577-495C>T | ||||||
|
chr2:108797962
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(175): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(173): Show | 178 | 220 | 0.8091 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 5/14 | c.577-450delT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108798099
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(35): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0014others(1): Show | a0002c0002t0001a0003c0003t0001a0007c0014t0001others(1): Show | a0002c0002t0001g0195a0003c0003t0001g0002a0003c0003t0001g0121others(34): Show | 38 | 220 | 0.1727 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 5/14 | c.577-329A>G | ||||||
|
chr2:108798708
|
TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(35): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0014others(1): Show | a0002c0002t0001a0003c0003t0001a0007c0014t0001others(1): Show | a0002c0002t0001g0195a0003c0003t0001g0002a0003c0003t0001g0121others(34): Show | 38 | 220 | 0.1727 | -10 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.735+145_735+154delACACACACAC | INFO_REALIGN_3_PRIME | |||||
|
chr2:108798816
|
T | TAC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00741.hp2 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0002others(4): Show | a0001c0001t0002g0067a0001c0001t0002g0070a0001c0001t0002g0072others(30): Show | 33 | 220 | 0.1500 | 2 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.735+266_735+267dupCA | INFO_REALIGN_3_PRIME | |||||
|
chr2:108799293
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(174): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(172): Show | 177 | 220 | 0.8046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.735+707T>C | ||||||
|
chr2:108799303
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(174): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(172): Show | 177 | 220 | 0.8046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.735+717T>A | ||||||
|
chr2:108799779
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(174): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(172): Show | 177 | 220 | 0.8046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.735+1193A>C | ||||||
|
chr2:108800384
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(216): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(214): Show | 219 | 220 | 0.9955 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.735+1798T>C | ||||||
|
chr2:108800638
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(134): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(10): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(132): Show | 137 | 220 | 0.6227 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.735+2052T>A | ||||||
|
chr2:108800734
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(186): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(184): Show | 189 | 220 | 0.8591 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.735+2148A>G | ||||||
|
chr2:108800992
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(174): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(172): Show | 177 | 220 | 0.8046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.735+2406A>G | ||||||
|
chr2:108801247
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(171): Show | 176 | 220 | 0.8000 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.735+2661G>T | ||||||
|
chr2:108801337
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(171): Show | 176 | 220 | 0.8000 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.735+2751G>A | ||||||
|
chr2:108802606
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(216): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(214): Show | 219 | 220 | 0.9955 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.736-2283C>T | ||||||
|
chr2:108802688
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(174): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(172): Show | 177 | 220 | 0.8046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.736-2201A>G | ||||||
|
chr2:108803144
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(179): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(177): Show | 182 | 220 | 0.8273 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.736-1745A>G | ||||||
|
chr2:108803393
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(174): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(172): Show | 177 | 220 | 0.8046 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.736-1493delT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108804878
|
TCTC | T | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(33): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0014others(1): Show | a0002c0002t0001a0003c0003t0001a0007c0014t0001others(1): Show | a0002c0002t0001g0195a0003c0003t0001g0002a0003c0003t0001g0121others(32): Show | 36 | 220 | 0.1636 | -3 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 6/14 | c.736-5_736-3delCCT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108805165
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(174): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(172): Show | 177 | 220 | 0.8046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 7/14 | c.855+157G>A | ||||||
|
chr2:108805569
|
C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(170): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(168): Show | 173 | 220 | 0.7864 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 7/14 | c.855+570dupA | INFO_REALIGN_3_PRIME | |||||
|
chr2:108807659
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(171): Show | 176 | 220 | 0.8000 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 7/14 | c.855+2651C>T | ||||||
|
chr2:108809450
|
G | T | intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 HG02886.hp2 others(6): Show |
a0001a0003 | a0001c0004a0001c0012a0003c0003 | a0001c0004t0001a0001c0012t0001a0003c0003t0001 | a0001c0004t0001g0009a0001c0004t0001g0011a0001c0004t0001g0012others(6): Show | 9 | 220 | 0.0409 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 7/14 | c.856-3181G>T | ||||||
|
chr2:108810771
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(174): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(172): Show | 177 | 220 | 0.8046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 7/14 | c.856-1860G>T | ||||||
|
chr2:108810776
|
A | T | intron_variant | MODIFIER | NA20752.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0139 | 1 | 220 | 0.0046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 7/14 | c.856-1855A>T | ||||||
|
chr2:108811100
|
CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(172): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(170): Show | 175 | 220 | 0.7955 | -7 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 7/14 | c.856-1526_856-1520delTTTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108811247
|
C | CTCTTTTT others(9): Show |
intron_variant | MODIFIER | HG01109.hp2 NA19070.hp2 NA20752.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0137a0003c0003t0001g0139a0003c0003t0001g0148 | 3 | 220 | 0.0136 | 16 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 7/14 | c.856-1383_856-1382insCTTTTTTTTTTTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108811287
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(177): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(175): Show | 180 | 220 | 0.8182 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 7/14 | c.856-1344T>C | ||||||
|
chr2:108814419
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(174): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(172): Show | 177 | 220 | 0.8046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 9/14 | c.1041+1492C>T | ||||||
|
chr2:108815448
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(174): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(172): Show | 177 | 220 | 0.8046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 9/14 | c.1042-493G>A | ||||||
|
chr2:108815461
|
GT | G | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG02280.hp2 others(10): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0007others(1): Show | a0002c0002t0001a0003c0003t0001a0004c0007t0002others(1): Show | a0002c0002t0001g0129a0002c0002t0001g0130a0002c0002t0001g0131others(10): Show | 13 | 220 | 0.0591 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 9/14 | c.1042-457delT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108815516
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(42): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0012a0002c0002others(3): Show | a0001c0004t0001a0001c0012t0001a0002c0002t0001others(3): Show | a0001c0004t0001g0009a0001c0004t0001g0011a0001c0004t0001g0012others(41): Show | 45 | 220 | 0.2046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 9/14 | c.1042-425G>C | ||||||
|
chr2:108816552
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(179): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(177): Show | 182 | 220 | 0.8273 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+447_1206+448insA | ||||||
|
chr2:108817520
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(171): Show | 176 | 220 | 0.8000 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+1415C>T | ||||||
|
chr2:108817859
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(186): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(184): Show | 189 | 220 | 0.8591 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+1754C>T | ||||||
|
chr2:108818820
|
CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(34): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0014others(1): Show | a0002c0002t0001a0003c0003t0001a0007c0014t0001others(1): Show | a0002c0002t0001g0195a0003c0003t0001g0002a0003c0003t0001g0121others(33): Show | 37 | 220 | 0.1682 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+2727delT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108819523
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(171): Show | 176 | 220 | 0.8000 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+3418G>A | ||||||
|
chr2:108820720
|
C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(160): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(13): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0003others(159): Show | 163 | 220 | 0.7409 | 4 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+4617_1206+4618insAAAA | INFO_REALIGN_3_PRIME | |||||
|
chr2:108820971
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(174): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(172): Show | 177 | 220 | 0.8046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+4866G>A | ||||||
|
chr2:108821018
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(170): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(168): Show | 173 | 220 | 0.7864 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+4921dupA | INFO_REALIGN_3_PRIME | |||||
|
chr2:108821415
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(186): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(184): Show | 189 | 220 | 0.8591 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+5310A>G | ||||||
|
chr2:108823945
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(142): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(10): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(140): Show | 145 | 220 | 0.6591 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+7840C>T | ||||||
|
chr2:108823996
|
TG | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(35): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0014others(1): Show | a0002c0002t0001a0003c0003t0001a0007c0014t0001others(1): Show | a0002c0002t0001g0195a0003c0003t0001g0002a0003c0003t0001g0121others(34): Show | 38 | 220 | 0.1727 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+7897delG | INFO_REALIGN_3_PRIME | |||||
|
chr2:108824170
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(171): Show | 176 | 220 | 0.8000 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+8071delT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108825558
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(186): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(184): Show | 189 | 220 | 0.8591 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+9453G>A | ||||||
|
chr2:108825787
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(171): Show | 176 | 220 | 0.8000 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+9682A>G | ||||||
|
chr2:108826687
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(174): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(172): Show | 177 | 220 | 0.8046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+10582A>G | ||||||
|
chr2:108827591
|
C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(35): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0014others(1): Show | a0002c0002t0001a0003c0003t0001a0007c0014t0001others(1): Show | a0002c0002t0001g0195a0003c0003t0001g0002a0003c0003t0001g0121others(34): Show | 38 | 220 | 0.1727 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+11486_1206+11487insA | ||||||
|
chr2:108827594
|
ATC | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(35): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0014others(1): Show | a0002c0002t0001a0003c0003t0001a0007c0014t0001others(1): Show | a0002c0002t0001g0195a0003c0003t0001g0002a0003c0003t0001g0121others(34): Show | 38 | 220 | 0.1727 | -2 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1206+11490_1206+11491delTC | ||||||
|
chr2:108827676
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(42): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0012a0002c0002others(3): Show | a0001c0004t0001a0001c0012t0001a0002c0002t0001others(3): Show | a0001c0004t0001g0009a0001c0004t0001g0011a0001c0004t0001g0012others(41): Show | 45 | 220 | 0.2046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-11509C>T | ||||||
|
chr2:108830608
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(174): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(172): Show | 177 | 220 | 0.8046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-8577T>A | ||||||
|
chr2:108831210
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(185): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(183): Show | 188 | 220 | 0.8546 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-7975G>A | ||||||
|
chr2:108831700
|
T | TCTTCCTT others(5): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(63): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0002others(6): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0006others(62): Show | 66 | 220 | 0.3000 | 12 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-7459_1207-7448dupTTCCTTCCTTCC | INFO_REALIGN_3_PRIME | |||||
|
chr2:108832107
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-7078T>G | ||||||
|
chr2:108832344
|
CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(77): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0079a0001c0001t0002g0033others(76): Show | 80 | 220 | 0.3636 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-6821delT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108832998
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-6187C>A | ||||||
|
chr2:108833726
|
CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(187): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0079a0001c0001t0002g0001others(185): Show | 190 | 220 | 0.8636 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-5440delT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108833894
|
A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(133): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(12): Show | a0001c0001t0001g0057a0001c0001t0002g0001a0001c0001t0002g0003others(131): Show | 136 | 220 | 0.6182 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-5267dupT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108834214
|
A | AT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(41): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0002a0001c0004t0001a0002c0002t0001others(3): Show | a0001c0001t0002g0072a0001c0004t0001g0107a0001c0004t0001g0108others(40): Show | 44 | 220 | 0.2000 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-4955dupT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108834460
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-4725A>G | ||||||
|
chr2:108834801
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0012a0002c0002others(3): Show | a0001c0004t0001a0001c0012t0001a0002c0002t0001others(3): Show | a0001c0004t0001g0009a0001c0004t0001g0011a0001c0004t0001g0012others(48): Show | 52 | 220 | 0.2364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-4384A>G | ||||||
|
chr2:108835089
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0012a0002c0002others(3): Show | a0001c0004t0001a0001c0012t0001a0002c0002t0001others(3): Show | a0001c0004t0001g0009a0001c0004t0001g0011a0001c0004t0001g0012others(48): Show | 52 | 220 | 0.2364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-4096A>G | ||||||
|
chr2:108835094
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(169): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(13): Show | a0001c0001t0001g0057a0001c0001t0002g0001a0001c0001t0002g0003others(167): Show | 172 | 220 | 0.7818 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-4091G>T | ||||||
|
chr2:108837102
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-2083T>C | ||||||
|
chr2:108837248
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(37): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0014others(1): Show | a0002c0002t0001a0003c0003t0001a0007c0014t0001others(1): Show | a0002c0002t0001g0167a0002c0002t0001g0173a0002c0002t0001g0174others(36): Show | 40 | 220 | 0.1818 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-1937G>C | ||||||
|
chr2:108837296
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(43): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0014others(1): Show | a0002c0002t0001a0003c0003t0001a0007c0014t0001others(1): Show | a0002c0002t0001g0128a0002c0002t0001g0129a0002c0002t0001g0130others(42): Show | 46 | 220 | 0.2091 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-1889G>A | ||||||
|
chr2:108837419
|
C | T | intron_variant | MODIFIER | NA20752.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0139 | 1 | 220 | 0.0046 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-1766C>T | ||||||
|
chr2:108837653
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(216): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(214): Show | 219 | 220 | 0.9955 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 10/14 | c.1207-1532A>G | ||||||
|
chr2:108841318
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0003c0003others(2): Show | a0001c0005t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0005t0001g0116a0001c0005t0001g0117a0001c0005t0001g0118others(36): Show | 40 | 220 | 0.1818 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1323+2017A>G | ||||||
|
chr2:108841662
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1323+2361C>T | ||||||
|
chr2:108841784
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0003c0003others(2): Show | a0001c0005t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0005t0001g0116a0001c0005t0001g0117a0001c0005t0001g0118others(37): Show | 41 | 220 | 0.1864 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1323+2483C>T | ||||||
|
chr2:108842075
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(32): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0014others(1): Show | a0002c0002t0001a0003c0003t0001a0007c0014t0001others(1): Show | a0002c0002t0001g0167a0003c0003t0001g0002a0003c0003t0001g0121others(31): Show | 35 | 220 | 0.1591 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1323+2774G>A | ||||||
|
chr2:108842545
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0003c0003others(2): Show | a0001c0005t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0005t0001g0116a0001c0005t0001g0117a0001c0005t0001g0118others(37): Show | 41 | 220 | 0.1864 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1323+3244A>T | ||||||
|
chr2:108842992
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1323+3691G>A | ||||||
|
chr2:108843118
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0003c0003others(2): Show | a0001c0005t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0005t0001g0116a0001c0005t0001g0117a0001c0005t0001g0118others(37): Show | 41 | 220 | 0.1864 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-3620A>G | ||||||
|
chr2:108843542
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-3196T>C | ||||||
|
chr2:108843844
|
TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(124): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(11): Show | a0001c0001t0001g0057a0001c0001t0002g0003a0001c0001t0002g0004others(123): Show | 127 | 220 | 0.5773 | -6 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-2864_1324-2859delGTGTGT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108843876
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(145): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(13): Show | a0001c0001t0001g0057a0001c0001t0002g0001a0001c0001t0002g0003others(143): Show | 148 | 220 | 0.6727 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-2862G>T | ||||||
|
chr2:108843886
|
CTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0003c0003others(2): Show | a0001c0005t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0005t0001g0116a0001c0005t0001g0117a0001c0005t0001g0118others(35): Show | 39 | 220 | 0.1773 | -2 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-2831_1324-2830delTT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108844748
|
AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(45): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0012others(5): Show | a0001c0001t0002a0001c0005t0001a0001c0012t0001others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0051a0001c0001t0002g0052others(43): Show | 48 | 220 | 0.2182 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-1973delT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108844971
|
A | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-1767A>C | ||||||
|
chr2:108845571
|
AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(181): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(13): Show | a0001c0001t0001g0005a0001c0001t0001g0057a0001c0001t0001g0079others(179): Show | 184 | 220 | 0.8364 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-1149delT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108845712
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-1026T>C | ||||||
|
chr2:108845817
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-921T>C | ||||||
|
chr2:108846060
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 11/14 | c.1324-678A>T | ||||||
|
chr2:108847419
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0003c0003others(2): Show | a0001c0005t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0005t0001g0116a0001c0005t0001g0117a0001c0005t0001g0118others(37): Show | 41 | 220 | 0.1864 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1516+489G>A | ||||||
|
chr2:108849715
|
G | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(32): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0014others(1): Show | a0002c0002t0001a0003c0003t0001a0007c0014t0001others(1): Show | a0002c0002t0001g0167a0003c0003t0001g0002a0003c0003t0001g0121others(31): Show | 35 | 220 | 0.1591 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1516+2785G>C | ||||||
|
chr2:108852386
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0003c0003others(2): Show | a0001c0005t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0005t0001g0116a0001c0005t0001g0117a0001c0005t0001g0118others(36): Show | 40 | 220 | 0.1818 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-4408A>G | ||||||
|
chr2:108852877
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(198): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(196): Show | 201 | 220 | 0.9136 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-3917G>T | ||||||
|
chr2:108853981
|
ATAATATA others(21): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0003c0003others(2): Show | a0001c0005t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0005t0001g0116a0001c0005t0001g0117a0001c0005t0001g0118others(36): Show | 40 | 220 | 0.1818 | -28 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-2812_1517-2785delTAATATATAATAAATTTATATTATATAT | ||||||
|
chr2:108854392
|
TTTTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0003c0003others(2): Show | a0001c0005t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0005t0001g0116a0001c0005t0001g0117a0001c0005t0001g0118others(36): Show | 40 | 220 | 0.1818 | -4 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-2390_1517-2387delGTTT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108854682
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0003c0003others(2): Show | a0001c0005t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0005t0001g0116a0001c0005t0001g0117a0001c0005t0001g0118others(37): Show | 41 | 220 | 0.1864 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-2112C>G | ||||||
|
chr2:108855944
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0005a0002c0002others(3): Show | a0001c0004t0001a0001c0005t0001a0002c0002t0001others(3): Show | a0001c0004t0001g0198a0001c0005t0001g0116a0001c0005t0001g0117others(37): Show | 41 | 220 | 0.1864 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-850C>T | ||||||
|
chr2:108856215
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(201): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(199): Show | 204 | 220 | 0.9273 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-579A>G | ||||||
|
chr2:108856306
|
C | CTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | 2 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 12/14 | c.1517-487_1517-486dupTT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108857066
|
CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(63): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(10): Show | a0001c0001t0001g0029a0001c0001t0002g0020a0001c0001t0002g0035others(62): Show | 66 | 220 | 0.3000 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+127delT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108859058
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(55): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0079a0001c0005t0001g0112others(54): Show | 58 | 220 | 0.2636 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+2088C>T | ||||||
|
chr2:108860935
|
C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(62): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0005t0001others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0079others(61): Show | 65 | 220 | 0.2955 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+3988dupT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108861472
|
C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0005a0002c0002others(3): Show | a0001c0004t0001a0001c0005t0001a0002c0002t0001others(3): Show | a0001c0004t0001g0101a0001c0004t0001g0102a0001c0004t0001g0107others(51): Show | 55 | 220 | 0.2500 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+4528dupT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108862077
|
G | GT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+5121dupT | INFO_REALIGN_3_PRIME | |||||
|
chr2:108862367
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+5397A>G | ||||||
|
chr2:108862398
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+5428A>G | ||||||
|
chr2:108862948
|
TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(203): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(201): Show | 206 | 220 | 0.9364 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+5985delA | INFO_REALIGN_3_PRIME | |||||
|
chr2:108863295
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(32): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0014others(1): Show | a0002c0002t0001a0003c0003t0001a0007c0014t0001others(1): Show | a0002c0002t0001g0167a0003c0003t0001g0002a0003c0003t0001g0121others(31): Show | 35 | 220 | 0.1591 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+6325A>G | ||||||
|
chr2:108863350
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0003c0003others(2): Show | a0001c0005t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0005t0001g0116a0001c0005t0001g0117a0001c0005t0001g0118others(37): Show | 41 | 220 | 0.1864 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+6380A>G | ||||||
|
chr2:108864598
|
G | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(198): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(196): Show | 201 | 220 | 0.9136 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+7628G>C | ||||||
|
chr2:108864639
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(202): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(200): Show | 205 | 220 | 0.9318 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+7669A>T | ||||||
|
chr2:108864666
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0003c0003others(2): Show | a0001c0005t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0005t0001g0116a0001c0005t0001g0117a0001c0005t0001g0118others(37): Show | 41 | 220 | 0.1864 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+7696C>T | ||||||
|
chr2:108864676
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0003c0003others(2): Show | a0001c0005t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0005t0001g0116a0001c0005t0001g0117a0001c0005t0001g0118others(37): Show | 41 | 220 | 0.1864 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+7706C>T | ||||||
|
chr2:108865201
|
A | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0003c0003others(2): Show | a0001c0005t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0005t0001g0116a0001c0005t0001g0117a0001c0005t0001g0118others(36): Show | 40 | 220 | 0.1818 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1693+8231A>T | ||||||
|
chr2:108867211
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0003c0003others(2): Show | a0001c0005t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0005t0001g0116a0001c0005t0001g0117a0001c0005t0001g0118others(36): Show | 40 | 220 | 0.1818 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-6240A>G | ||||||
|
chr2:108869813
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(201): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(199): Show | 204 | 220 | 0.9273 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-3638C>T | ||||||
|
chr2:108870048
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0002a0003c0003others(2): Show | a0001c0005t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0005t0001g0116a0001c0005t0001g0117a0001c0005t0001g0118others(37): Show | 41 | 220 | 0.1864 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-3403C>G | ||||||
|
chr2:108871369
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(201): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(199): Show | 204 | 220 | 0.9273 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-2082T>C | ||||||
|
chr2:108871370
|
TAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(52): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(7): Show | a0001c0001t0001g0029a0001c0001t0002g0006a0001c0001t0002g0021others(52): Show | 55 | 220 | 0.2500 | -2 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-2057_1694-2056delAA | INFO_REALIGN_3_PRIME | |||||
|
chr2:108872262
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-1189T>C | ||||||
|
chr2:108872973
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(71): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0005a0001c0006others(5): Show | a0001c0004t0001a0001c0005t0001a0001c0006t0001others(5): Show | a0001c0004t0001g0009a0001c0004t0001g0011a0001c0004t0001g0012others(70): Show | 74 | 220 | 0.3364 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-478C>T | ||||||
|
chr2:108873160
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(45): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0005a0002c0002others(3): Show | a0001c0004t0001a0001c0005t0001a0002c0002t0001others(3): Show | a0001c0004t0001g0107a0001c0004t0001g0108a0001c0004t0001g0109others(44): Show | 48 | 220 | 0.2182 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 13/14 | c.1694-291A>C | ||||||
|
chr2:108873648
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(216): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0057others(214): Show | 219 | 220 | 0.9955 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 14/14 | c.1832+59A>G | ||||||
|
chr2:108874564
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(45): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0005a0002c0002others(3): Show | a0001c0004t0001a0001c0005t0001a0002c0002t0001others(3): Show | a0001c0004t0001g0107a0001c0004t0001g0108a0001c0004t0001g0109others(44): Show | 48 | 220 | 0.2182 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 14/14 | c.1832+975A>G | ||||||
|
chr2:108874988
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(184): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(16): Show | a0001c0001t0001g0029a0001c0001t0001g0057a0001c0001t0002g0001others(182): Show | 187 | 220 | 0.8500 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 14/14 | c.1833-1100A>G | ||||||
|
chr2:108875318
|
AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(58): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0005a0001c0006others(4): Show | a0001c0004t0001a0001c0005t0001a0001c0006t0001others(4): Show | a0001c0004t0001g0107a0001c0004t0001g0108a0001c0004t0001g0109others(57): Show | 61 | 220 | 0.2773 | -1 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 14/14 | c.1833-769delT | ||||||
|
chr2:108875352
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(32): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0014others(1): Show | a0002c0002t0001a0003c0003t0001a0007c0014t0001others(1): Show | a0002c0002t0001g0167a0003c0003t0001g0002a0003c0003t0001g0121others(31): Show | 35 | 220 | 0.1591 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 14/14 | c.1833-736T>C | ||||||
|
chr2:108875690
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00738.hp1 others(32): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0014others(1): Show | a0002c0002t0001a0003c0003t0001a0007c0014t0001others(1): Show | a0002c0002t0001g0167a0003c0003t0001g0002a0003c0003t0001g0121others(31): Show | 35 | 220 | 0.1591 | 0 | CCDC138 | ENSG00000163006.12 | transcript | ENST00000295124.9 | protein_coding | 14/14 | c.1833-398T>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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC138 | 0/0 | a0003 | 665 | 35 | 3 | 8 | 17 | 2 | 5 | subcellular location copy fasta | chr2 | 108781771 | 108881578 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC138 | 0/0 | c0003 | 1998 | 35 | 3 | 8 | 17 | 2 | 5 | copy fasta | chr2 | 108781771 | 108881578 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC138 | 0/0 | t0001 | 378 | 114 | 60 | 13 | 30 | 2 | 9 | copy fasta | chr2 | 108781771 | 108881578 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC138 | 0/0 | g0139 | 1 | 0 | 0 | 0 | 1 | 0 | chr2 | 108781771 | 108881578 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC138 | 0/0 | a0003c0003 | 35 | 3 | 8 | 17 | 2 | 5 | 1998 | copy fasta | chr2 | 108781771 | 108881578 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC138 | 0/0 | a0003c0003t0001 | 35 | 3 | 8 | 17 | 2 | 5 | 2375 | copy fasta | chr2 | 108781771 | 108881578 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC138 | 0/0 | a0003c0003t0001g0139 | 1 | 0 | 0 | 0 | 1 | 0 | chr2 | 108781771 | 108881578 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 108786915 | + | 1 | -0.4604 | -0.4604 | -0.4604 | 0.0000 | acceptor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108788032 | + | 2 | 0.9216 | 0.9216 | 0.9216 | 0.0000 | donor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108788089 | + | 2 | -0.9356 | -0.9356 | -0.9356 | 0.0000 | acceptor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108788852 | + | 3 | 0.9827 | 0.9827 | 0.9827 | 0.0000 | donor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108788966 | + | 3 | -0.9774 | -0.9774 | -0.9774 | 0.0000 | acceptor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108791675 | + | 4 | 0.8818 | 0.8818 | 0.8818 | 0.0000 | donor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108791802 | + | 4 | -0.9299 | -0.9299 | -0.9299 | 0.0000 | acceptor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108794540 | + | 5 | 0.9991 | 0.9991 | 0.9991 | 0.0000 | donor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108794721 | + | 5 | -0.9992 | -0.9992 | -0.9992 | 0.0000 | acceptor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108798428 | + | 6 | 0.9122 | 0.9122 | 0.9122 | 0.0000 | donor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108798586 | + | 6 | -0.9334 | -0.9334 | -0.9334 | 0.0000 | acceptor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108804889 | + | 7 | 0.9939 | 0.9939 | 0.9939 | 0.0000 | donor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108805008 | + | 7 | -0.9996 | -0.9996 | -0.9996 | 0.0000 | acceptor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108812631 | + | 8 | 0.9934 | 0.9934 | 0.9934 | 0.0000 | donor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108812708 | + | 8 | -0.9993 | -0.9993 | -0.9993 | 0.0000 | acceptor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108812820 | + | 9 | 0.9893 | 0.9893 | 0.9893 | 0.0000 | donor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108812927 | + | 9 | -0.9915 | -0.9915 | -0.9915 | 0.0000 | acceptor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108815941 | + | 10 | 0.9954 | 0.9954 | 0.9954 | 0.0000 | donor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108816105 | + | 10 | -0.9617 | -0.9617 | -0.9617 | 0.0000 | acceptor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108839185 | + | 11 | 0.7876 | 0.7876 | 0.7876 | 0.0000 | donor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108839301 | + | 11 | -0.7752 | -0.7752 | -0.7752 | 0.0000 | acceptor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108846738 | + | 12 | 0.8802 | 0.8802 | 0.8802 | 0.0000 | donor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108846930 | + | 12 | -0.9831 | -0.9831 | -0.9831 | 0.0000 | acceptor | a0003c0003t0001g0139 | NA20752.hp1 | NA20752.hp1 | CCDC138 | chr2 | 108781771 | 108881578 |
| 108856794 | + | 13 | 0.6941 | 0.6941 | 0.6941 | 0.0000 | donor | a0003c0003t0001g0139 | NA20752.hp1 |