| geneid | 117155 |
|---|---|
| ensemblid | ENSG00000166762.19 |
| hgncid | 18810 |
| symbol | CATSPER2 |
| name | cation channel sperm associated 2 |
| refseq_nuc | NM_172095.4 |
| refseq_prot | NP_742093.1 |
| ensembl_nuc | ENST00000396879.8 |
| ensembl_prot | ENSP00000380088.3 |
| mane_status | MANE Select |
| chr | chr15 |
| start | 43628503 |
| end | 43648844 |
| strand | - |
| ver | v1.2 |
| region | chr15:43628503-43648844 |
| region5000 | chr15:43623503-43653844 |
| regionname0 | CATSPER2_chr15_43628503_43648844 |
| regionname5000 | CATSPER2_chr15_43623503_43653844 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr15:43647444
|
C | T | 0.2296 | missense_variant | MODERATE | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(87): Show |
a0002a0006 | a0002c0002a0002c0008a0006c0009 | a0002c0002t0002a0002c0002t0009a0002c0002t0012others(3): Show | a0002c0002t0002g0004a0002c0002t0002g0007a0002c0002t0002g0011others(53): Show | 90 | 392 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 3/13 | c.169G>A | p.Val57Ile | 387/4009 | 169/1593 | 57/530 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr15:43628655
|
T | G | 0.3776 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(145): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(99): Show | 148 | 392 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 13/13 | c.*2046A>C | 2046 | |||||
|
chr15:43628722
|
A | T | 0.3622 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(139): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(9): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(96): Show | 142 | 392 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 13/13 | c.*1979T>A | 1979 | |||||
|
chr15:43628766
|
C | T | 0.3036 | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(6): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(77): Show | 119 | 392 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 13/13 | c.*1935G>A | 1935 | |||||
|
chr15:43628780
|
C | G | 0.3801 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(146): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(100): Show | 149 | 392 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 13/13 | c.*1921G>C | 1921 | |||||
|
chr15:43629194
|
G | A | 0.3393 | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(130): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(10): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(86): Show | 133 | 392 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 13/13 | c.*1507C>T | 1507 | |||||
|
chr15:43629246
|
T | C | 0.3036 | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(6): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(77): Show | 119 | 392 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 13/13 | c.*1455A>G | 1455 | |||||
|
chr15:43629513
|
A | T | 0.3036 | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(6): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(77): Show | 119 | 392 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 13/13 | c.*1188T>A | 1188 | |||||
|
chr15:43629805
|
C | T | 0.4924 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(190): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(125): Show | 193 | 392 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 13/13 | c.*896G>A | 896 | |||||
|
chr15:43630200
|
T | C | 0.3036 | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(6): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(77): Show | 119 | 392 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 13/13 | c.*501A>G | 501 | |||||
|
chr15:43630388
|
T | C | 0.3036 | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(6): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(77): Show | 119 | 392 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 13/13 | c.*313A>G | 313 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr15:43631757
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(143): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(12): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(99): Show | 146 | 392 | 0.3725 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 12/12 | c.1561+442T>G | ||||||
|
chr15:43631976
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(150): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(103): Show | 153 | 392 | 0.3903 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 12/12 | c.1561+223G>C | ||||||
|
chr15:43632484
|
G | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(6): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(77): Show | 119 | 392 | 0.3036 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 11/12 | c.1397-121C>T | ||||||
|
chr15:43632936
|
T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(113): Show | 176 | 392 | 0.4490 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | c.1179-2A>T | ||||||
|
chr15:43632937
|
T | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(113): Show | 176 | 392 | 0.4490 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | c.1179-3A>C | ||||||
|
chr15:43632942
|
A | G | splice_region_variant others(1): Show |
LOW | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(113): Show | 176 | 392 | 0.4490 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | c.1179-8T>C | ||||||
|
chr15:43632949
|
T | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(113): Show | 176 | 392 | 0.4490 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | c.1179-15A>C | ||||||
|
chr15:43633109
|
T | TTA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(6): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(77): Show | 119 | 392 | 0.3036 | 2 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | c.1179-177_1179-176dupTA | ||||||
|
chr15:43633515
|
G | A | intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0159 | 1 | 392 | 0.0026 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | c.1179-581C>T | ||||||
|
chr15:43633835
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(155): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(106): Show | 158 | 392 | 0.4031 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | c.1179-901G>A | ||||||
|
chr15:43634230
|
GT | G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(115): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(6): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(76): Show | 118 | 392 | 0.3010 | -1 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 10/12 | c.1178+1129delA | ||||||
|
chr15:43636872
|
C | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(150): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(103): Show | 153 | 392 | 0.3903 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 7/12 | c.843-653G>C | ||||||
|
chr15:43637535
|
A | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(6): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(77): Show | 119 | 392 | 0.3036 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 7/12 | c.843-1316T>G | ||||||
|
chr15:43638286
|
C | CTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(55): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0012a0002c0002t0023 | a0002c0002t0002g0004a0002c0002t0002g0007a0002c0002t0002g0014others(29): Show | 58 | 392 | 0.1480 | 8 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 7/12 | c.842+617_842+618insAAAAGAAA | ||||||
|
chr15:43638408
|
A | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(235): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0021others(149): Show | 238 | 392 | 0.6071 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 7/12 | c.842+496T>G | ||||||
|
chr15:43639208
|
G | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(87): Show |
a0002a0006 | a0002c0002a0002c0008a0006c0009 | a0002c0002t0002a0002c0002t0009a0002c0002t0012others(3): Show | a0002c0002t0002g0004a0002c0002t0002g0007a0002c0002t0002g0011others(53): Show | 90 | 392 | 0.2296 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 6/12 | c.718-180C>A | ||||||
|
chr15:43639250
|
T | TA | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02258.hp2 others(10): Show |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0002a0002c0002t0012a0006c0009t0002 | a0002c0002t0002g0025a0002c0002t0002g0037a0002c0002t0002g0146others(7): Show | 13 | 392 | 0.0332 | 1 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 6/12 | c.718-223_718-222insT | ||||||
|
chr15:43639252
|
T | A | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02258.hp2 others(9): Show |
a0002a0006 | a0002c0002a0006c0009 | a0002c0002t0002a0002c0002t0012a0006c0009t0002 | a0002c0002t0002g0025a0002c0002t0002g0037a0002c0002t0002g0156others(6): Show | 12 | 392 | 0.0306 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 6/12 | c.718-224A>T | ||||||
|
chr15:43639410
|
ATT | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(91): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0009others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(6): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(55): Show | 94 | 392 | 0.2398 | -2 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 6/12 | c.717+231_717+232delAA | ||||||
|
chr15:43639905
|
G | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(115): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0008others(1): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(5): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(76): Show | 118 | 392 | 0.3010 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 5/12 | c.562-107C>G | ||||||
|
chr15:43639973
|
A | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(74): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0003a0001c0001t0018a0002c0002t0002others(8): Show | a0001c0001t0003g0116a0001c0001t0018g0128a0002c0002t0002g0004others(46): Show | 77 | 392 | 0.1964 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 5/12 | c.562-175T>G | ||||||
|
chr15:43641122
|
G | GT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(115): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(7): Show | a0001c0001t0001g0066a0001c0001t0002g0040a0001c0001t0002g0041others(76): Show | 118 | 392 | 0.3010 | 1 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.389-627dupA | ||||||
|
chr15:43641515
|
GAA | G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(6): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(77): Show | 119 | 392 | 0.3036 | -2 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.389-1021_389-1020delTT | ||||||
|
chr15:43641697
|
C | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(6): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(77): Show | 119 | 392 | 0.3036 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.389-1201G>A | ||||||
|
chr15:43642102
|
C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(147): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0063a0001c0001t0002g0040a0001c0001t0002g0041others(101): Show | 150 | 392 | 0.3827 | 1 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.389-1607dupA | ||||||
|
chr15:43643905
|
C | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(150): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(103): Show | 153 | 392 | 0.3903 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.388+3145G>A | ||||||
|
chr15:43644153
|
G | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(6): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(77): Show | 119 | 392 | 0.3036 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.388+2897C>T | ||||||
|
chr15:43644845
|
C | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(6): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(77): Show | 119 | 392 | 0.3036 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.388+2205G>A | ||||||
|
chr15:43645420
|
G | C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(6): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(77): Show | 119 | 392 | 0.3036 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.388+1630C>G | ||||||
|
chr15:43646293
|
C | CTT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(113): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0010a0002c0002t0002others(6): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(74): Show | 116 | 392 | 0.2959 | 2 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.388+755_388+756dupAA | ||||||
|
chr15:43646409
|
A | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(143): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(12): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(99): Show | 146 | 392 | 0.3725 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.388+641T>C | ||||||
|
chr15:43646484
|
T | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(150): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(13): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(103): Show | 153 | 392 | 0.3903 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.388+566A>G | ||||||
|
chr15:43646718
|
C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(116): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0055a0001c0001t0002g0040a0001c0001t0002g0041others(77): Show | 119 | 392 | 0.3036 | 1 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 4/12 | c.388+331dupA | ||||||
|
chr15:43648471
|
T | G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(117): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0008others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(7): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042others(78): Show | 120 | 392 | 0.3061 | 0 | CATSPER2 | ENSG00000166762.19 | transcript | ENST00000396879.8 | protein_coding | 1/12 | c.-3+158A>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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CATSPER2 | 0/0 | a0002 | 530 | 89 | 20 | 12 | 49 | 1 | 7 | subcellular location copy fasta | chr15 | 43623503 | 43653844 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CATSPER2 | 0/0 | c0002 | 1593 | 88 | 19 | 12 | 49 | 1 | 7 | copy fasta | chr15 | 43623503 | 43653844 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CATSPER2 | 0/0 | t0002 | 2417 | 107 | 34 | 13 | 49 | 1 | 10 | copy fasta | chr15 | 43623503 | 43653844 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CATSPER2 | 0/0 | g0159 | 1 | 1 | 0 | 0 | 0 | 0 | chr15 | 43623503 | 43653844 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CATSPER2 | 0/0 | a0002c0002 | 88 | 19 | 12 | 49 | 1 | 7 | 1593 | copy fasta | chr15 | 43623503 | 43653844 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CATSPER2 | 0/0 | a0002c0002t0002 | 81 | 13 | 12 | 49 | 1 | 6 | 4009 | copy fasta | chr15 | 43623503 | 43653844 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| CATSPER2 | 0/0 | a0002c0002t0002g0159 | 1 | 1 | 0 | 0 | 0 | 0 | chr15 | 43623503 | 43653844 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 43647917 | - | 2 | -0.4651 | -0.4651 | -0.4651 | 0.0000 | acceptor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43648063 | - | 2 | 0.1121 | 0.1121 | 0.1121 | 0.0000 | donor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43647294 | - | 3 | -0.0843 | -0.0843 | -0.0843 | 0.0000 | acceptor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43647467 | - | 3 | 0.1838 | 0.1838 | 0.1838 | 0.0000 | donor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43647050 | - | 4 | -0.2993 | -0.2993 | -0.2993 | 0.0000 | acceptor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43640324 | - | 5 | -0.6965 | -0.6965 | -0.6965 | 0.0000 | acceptor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43640496 | - | 5 | 0.7903 | 0.7903 | 0.7903 | 0.0000 | donor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43638904 | - | 7 | -0.7559 | -0.7559 | -0.7559 | 0.0000 | acceptor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43639028 | - | 7 | 0.4394 | 0.4394 | 0.4394 | 0.0000 | donor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43636041 | - | 8 | -0.9909 | -0.9909 | -0.9909 | 0.0000 | acceptor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43636219 | - | 8 | 0.9818 | 0.9818 | 0.9818 | 0.0000 | donor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43635727 | - | 9 | -0.4533 | -0.4533 | -0.4533 | 0.0000 | acceptor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43635826 | - | 9 | 0.1621 | 0.1621 | 0.1621 | 0.0000 | donor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43635360 | - | 10 | -0.4432 | -0.4431 | -0.4432 | 0.0000 | acceptor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43635416 | - | 10 | 0.6582 | 0.6582 | 0.6582 | 0.0000 | donor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43632717 | - | 11 | -0.4692 | -0.4692 | -0.4692 | 0.0000 | acceptor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43632934 | - | 11 | 0.0000 | 0.0000 | 0.0000 | 0.0000 | donor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43632199 | - | 12 | -0.6330 | -0.6330 | -0.6330 | 0.0000 | acceptor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43632363 | - | 12 | 0.4070 | 0.4070 | 0.4070 | 0.0000 | donor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 43630732 | - | 13 | 0.1243 | 0.1243 | 0.1243 | 0.0000 | donor | a0002c0002t0002g0159 | NA19043.hp2 | NA19043.hp2 | CATSPER2 | chr15 | 43623503 | 43653844 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr15:43626883
|
c.*3818A>G |
Diastolic blood pressure (MTAG)0.0128128 others(2): Show |
a0001a0002a0006a0007 | a0001c0001a0002c0002a0002c0008a0006c0009a0007c0012 | a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0006a0001c0001t0007others(10): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042a0001c0001t0002g0181a0001c0001t0002g0182others(101): Show | HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 others(149): Show |
Multi-trait association analysis reveals shared ge others(65): Show |
at least 757,601 European ancestry individuals (MT others(52): Show |
STRC - CATSPER2 | rs2927071-C | - | MODIFIER | chr15 | T | C | |
|
chr15:43638408
|
c.842+496T>G | Aerodigestive squamous cell cancer (pleiotropy)others(11): Show | a0001a0002a0003a0004a0006others(2): Show | a0001c0001a0001c0005a0001c0011a0002c0002a0002c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0057a0001c0001t0001g0059others(147): Show | HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 others(233): Show |
Genome-wide association meta-analysis identifies p others(61): Show |
7,426 European ancestry lung squamous cell carcino others(246): Show |
NR | CATSPER2 | rs35028925-C | - | MODIFIER | chr15 | A | C |
|
chr15:43638408
|
c.842+496T>G | Squamous cell lung carcinoma1.0992004 | a0001a0002a0003a0004a0006others(2): Show | a0001c0001a0001c0005a0001c0011a0002c0002a0002c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0057a0001c0001t0001g0059others(147): Show | HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 others(233): Show |
Large-scale association analysis identifies new lu others(103): Show |
7,426 European ancestry cases, 55,627 European anc others(15): Show |
CATSPER2 | CATSPER2 | rs35028925-A | - | MODIFIER | chr15 | A | C |
|
chr15:43638408
|
c.842+496T>G | Lung cancer1.0604849 | a0001a0002a0003a0004a0006others(2): Show | a0001c0001a0001c0005a0001c0011a0002c0002a0002c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0057a0001c0001t0001g0059others(147): Show | HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 others(233): Show |
Large-scale association analysis identifies new lu others(103): Show |
29,266 European ancestry cases, 56,450 European an others(16): Show |
CATSPER2 | CATSPER2 | rs35028925-A | - | MODIFIER | chr15 | A | C |
|
chr15:43639905
|
c.562-107C>G | Hemoglobin concentration0.03393 | a0001a0002a0006 | a0001c0001a0002c0002a0002c0008a0006c0009 | a0001c0001t0002a0001c0001t0010a0002c0002t0002a0002c0002t0009a0002c0002t0012others(3): Show | a0001c0001t0002g0040a0001c0001t0002g0041a0001c0001t0002g0042a0001c0001t0002g0181a0001c0001t0002g0182others(74): Show | HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp1 others(113): Show |
Common and Ethnic-Specific Genetic Determinants of others(145): Show |
52,141 European ancestry females/89,584 European a others(15): Show |
CATSPER2 | rs12443102-C | - | MODIFIER | chr15 | G | C |