view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA3_chr2_230991121_231013040 | 231011089 | AG | A | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01243.hp1 HG01975.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0007 a0001c0001t0002g0019 a0001c0001t0002g0079 others(5): Show |
17 | 436 | 0.0390 | -1 | c.*39 others(6): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 3050 | chr2 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212826759 | CA | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG00741.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0000 | a0001c0001t0001a0002c0002t0001a0003c0000t0002 | a0001c0001t0001g0033 a0001c0001t0001g0135 a0001c0001t0001g0211 others(5): Show |
14 | 402 | 0.0348 | -1 | c.*34 others(6): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 3381 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212830672 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(133): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(72): Show |
136 | 402 | 0.3383 | -1 | c.278 others(8): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212831473 | TA | T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00609.hp2 others(92): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0019 others(56): Show |
95 | 402 | 0.2363 | -1 | c.278 others(9): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212832359 | CT | C | intron_variant | MODIFIER | HG00597.hp1 HG01069.hp2 HG01515.hp1 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0014 a0001c0001t0001g0060 a0001c0001t0001g0061 others(11): Show |
17 | 402 | 0.0423 | -1 | c.278 others(9): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212833503 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(120): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 others(59): Show |
123 | 402 | 0.3060 | -1 | c.277 others(9): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212835836 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00639.hp1 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 others(23): Show |
42 | 402 | 0.1045 | -1 | c.277 others(7): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 2/2 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212836815 | AT | A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(111): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0033 a0001c0001t0001g0104 a0001c0001t0001g0147 others(52): Show |
114 | 402 | 0.2836 | -1 | c.-38 others(8): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212837087 | TG | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0060 |
3 | 402 | 0.0075 | -1 | c.-38 others(8): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212838302 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(185): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(108): Show |
188 | 402 | 0.4677 | -1 | c.-38 others(9): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212839617 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(227): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 others(131): Show |
230 | 402 | 0.5721 | -1 | c.-38 others(9): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212841166 | TC | T | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01070.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 others(19): Show |
36 | 402 | 0.0896 | -1 | c.-38 others(9): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212841631 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(164): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0000 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(86): Show |
167 | 402 | 0.4154 | -1 | c.-38 others(9): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212847794 | CT | C | upstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01069.hp1 others(14): Show |
a0002a0003 | a0002c0002a0003c0000a0003c0003 | a0002c0002t0001a0003c0000t0002a0003c0003t0001 | a0002c0002t0001g0001 a0002c0002t0001g0193 a0002c0002t0001g0197 others(6): Show |
17 | 402 | 0.0423 | -1 | c.-25 others(5): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 146 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212851590 | CA | C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02895.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 4 | 402 | 0.0100 | -1 | c.-40 others(6): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 3942 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212851789 | GT | G | upstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG02109.hp1 others(7): Show |
a0002a0003 | a0002c0002a0003c0000 | a0002c0002t0001a0003c0000t0002 | a0002c0002t0001g0164 a0003c0000t0002g0011 a0003c0000t0002g0028 others(2): Show |
10 | 402 | 0.0249 | -1 | c.-42 others(6): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 4141 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212851790 | TA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00642.hp2 others(32): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0026 others(23): Show |
35 | 402 | 0.0871 | -1 | c.-42 others(6): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 4142 | chr1 | TogoVar | |||||||
SPATA46_chr1_162368203_162381854 | 162371496 | TA | T | downstream_gene_variant | MODIFIER | HG02280.hp2 HG03098.hp1 HG03225.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0002g0003 a0001c0001t0003g0002 a0001c0002t0001g0001 others(1): Show |
7 | 478 | 0.0146 | -1 | c.*25 others(6): Show |
SPATA46 | ENSG00000171722.13 | transcript | ENST00000367935.10 | protein_coding | 1706 | chr1 | TogoVar | |||||||
SPATA46_chr1_162368203_162381854 | 162376466 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(446): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0006 others(45): Show |
449 | 478 | 0.9393 | -1 | c.103 others(8): Show |
SPATA46 | ENSG00000171722.13 | transcript | ENST00000367935.10 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
SPATA46_chr1_162368203_162381854 | 162376643 | CA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(166): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0002t0001g0001 others(7): Show |
169 | 478 | 0.3536 | -1 | c.103 others(7): Show |
SPATA46 | ENSG00000171722.13 | transcript | ENST00000367935.10 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
SPATA46_chr1_162368203_162381854 | 162377695 | CT | C | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01167.hp2 HG01169.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0002g0006 a0001c0001t0005g0009 a0001c0002t0001g0001 others(2): Show |
10 | 478 | 0.0209 | -1 | c.-90 others(5): Show |
SPATA46 | ENSG00000171722.13 | transcript | ENST00000367935.10 | protein_coding | 842 | chr1 | TogoVar | |||||||
SPATA48_chr7_50090883_50164256 | 50097683 | TA | T | intron_variant | MODIFIER | HG00280.hp1 HG01891.hp2 HG02080.hp1 others(22): Show |
a0002a0003a0004 | a0002c0002a0002c0005a0002c0010others(3): Show | a0002c0002t0003a0002c0005t0001a0002c0010t0001others(3): Show | a0002c0002t0003g0018 a0002c0002t0003g0245 a0002c0005t0001g0251 others(22): Show |
25 | 328 | 0.0762 | -1 | c.553 others(9): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50112522 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(224): Show |
237 | 328 | 0.7226 | -1 | c.651 others(9): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50112947 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(234): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(224): Show |
237 | 328 | 0.7226 | -1 | c.651 others(9): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
SPATA48_chr7_50090883_50164256 | 50114664 | CT | C | intron_variant | MODIFIER | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
a0003a0008 | a0003c0006a0008c0014 | a0003c0006t0001a0008c0014t0004 | a0003c0006t0001g0131 a0003c0006t0001g0211 a0008c0014t0004g0210 |
3 | 328 | 0.0092 | -1 | c.651 others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
SPATA48_chr7_50090883_50164256 | 50115030 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp1 others(100): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0034 a0001c0001t0001g0105 a0001c0001t0001g0162 others(96): Show |
103 | 328 | 0.3140 | -1 | c.651 others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50121834 | TC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(154): Show |
a0001a0003a0004others(5): Show | a0001c0001a0003c0006a0004c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(147): Show |
157 | 328 | 0.4787 | -1 | c.652 others(9): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
SPATA48_chr7_50090883_50164256 | 50122085 | CA | C | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp2 HG02922.hp1 others(6): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0251 a0002c0005t0001g0252 a0002c0005t0001g0253 others(6): Show |
9 | 328 | 0.0274 | -1 | c.652 others(9): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50123813 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(67): Show |
a0002a0003 | a0002c0002a0002c0005a0003c0003others(1): Show | a0002c0002t0001a0002c0005t0001a0003c0003t0001others(1): Show | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(64): Show |
70 | 328 | 0.2134 | -1 | c.652 others(9): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50126379 | GT | G | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(48): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0006c0008t0001 | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0025 others(46): Show |
51 | 328 | 0.1555 | -1 | c.652 others(9): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50127514 | AC | A | intron_variant | MODIFIER | HG01993.hp2 HG03041.hp1 HG03098.hp2 |
a0003a0008 | a0003c0006a0008c0014 | a0003c0006t0001a0008c0014t0004 | a0003c0006t0001g0131 a0003c0006t0001g0211 a0008c0014t0004g0210 |
3 | 328 | 0.0092 | -1 | c.652 others(9): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50139349 | CA | C | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01167.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0119 a0001c0001t0001g0180 a0001c0001t0001g0183 others(8): Show |
13 | 328 | 0.0396 | -1 | c.936 others(8): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50143159 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(88): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0005a0003c0003others(2): Show | a0002c0002t0001a0002c0005t0001a0003c0003t0001others(2): Show | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(82): Show |
91 | 328 | 0.2774 | -1 | c.108 others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50149143 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(69): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0029 a0001c0001t0001g0105 a0001c0001t0001g0200 others(67): Show |
72 | 328 | 0.2195 | -1 | c.108 others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50149280 | TC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(64): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0005 others(61): Show |
67 | 328 | 0.2043 | -1 | c.108 others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50151698 | GA | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(134): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0005a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(128): Show |
137 | 328 | 0.4177 | -1 | c.119 others(9): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50155770 | TG | T | intron_variant | MODIFIER | HG02080.hp1 HG02135.hp1 HG02145.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(4): Show | a0001c0001t0001g0228 a0001c0001t0001g0237 a0002c0002t0001g0060 others(21): Show |
24 | 328 | 0.0732 | -1 | c.119 others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50156299 | AT | A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(7): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0013 | a0001c0001t0001a0003c0003t0001a0010c0013t0001 | a0001c0001t0001g0034 a0001c0001t0001g0111 a0001c0001t0001g0112 others(7): Show |
10 | 328 | 0.0305 | -1 | c.119 others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | TogoVar | |||||||
SPATA48_chr7_50090883_50164256 | 50156303 | GT | G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(7): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0013 | a0001c0001t0001a0003c0003t0001a0010c0013t0001 | a0001c0001t0001g0034 a0001c0001t0001g0111 a0001c0001t0001g0112 others(7): Show |
10 | 328 | 0.0305 | -1 | c.119 others(10): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | chr7 | TogoVar | |||||||
SPATA48_chr7_50090883_50164256 | 50161648 | AT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(116): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0034 others(111): Show |
119 | 328 | 0.3628 | -1 | c.*24 others(6): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2393 | chr7 | TogoVar | |||||||
SPATA4_chr4_176179579_176200585 | 176181192 | TA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(202): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0028 others(72): Show |
205 | 456 | 0.4496 | -1 | c.*35 others(6): Show |
SPATA4 | ENSG00000150628.7 | transcript | ENST00000280191.7 | protein_coding | 3386 | chr4 | TogoVar | |||||||
SPATA4_chr4_176179579_176200585 | 176191096 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(405): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(122): Show |
408 | 456 | 0.8947 | -1 | c.688 others(9): Show |
SPATA4 | ENSG00000150628.7 | transcript | ENST00000280191.7 | protein_coding | 4/5 | chr4 | TogoVar | |||||||
SPATA4_chr4_176179579_176200585 | 176194169 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(330): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(89): Show |
333 | 456 | 0.7303 | -1 | c.219 others(8): Show |
SPATA4 | ENSG00000150628.7 | transcript | ENST00000280191.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SPATA4_chr4_176179579_176200585 | 176194722 | AT | A | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01109.hp1 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0018 a0001c0003t0001g0029 a0001c0003t0001g0058 others(4): Show |
13 | 456 | 0.0285 | -1 | c.218 others(8): Show |
SPATA4 | ENSG00000150628.7 | transcript | ENST00000280191.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SPATA4_chr4_176179579_176200585 | 176196347 | GT | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0015 others(72): Show |
229 | 456 | 0.5022 | -1 | c.-78 others(5): Show |
SPATA4 | ENSG00000150628.7 | transcript | ENST00000280191.7 | protein_coding | 763 | chr4 | TogoVar | |||||||
SPATA4_chr4_176179579_176200585 | 176196823 | CT | C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG03130.hp1 HG03139.hp2 others(1): Show |
a0004a0005 | a0004c0008a0005c0009 | a0004c0008t0002a0005c0009t0003 | a0004c0008t0002g0039 a0005c0009t0003g0138 |
4 | 456 | 0.0088 | -1 | c.-12 others(6): Show |
SPATA4 | ENSG00000150628.7 | transcript | ENST00000280191.7 | protein_coding | 1239 | chr4 | TogoVar | |||||||
SPATA5L1_chr15_45397336_45426415 | 45399625 | AG | A | upstream_gene_variant | MODIFIER | HG02615.hp1 HG02622.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0083 |
3 | 390 | 0.0077 | -1 | c.-28 others(6): Show |
SPATA5L1 | ENSG00000171763.20 | transcript | ENST00000305560.11 | protein_coding | 2710 | chr15 | TogoVar | |||||||
SPATA5L1_chr15_45397336_45426415 | 45401570 | GA | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(285): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0006a0001c0012others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(134): Show |
288 | 390 | 0.7385 | -1 | c.-85 others(5): Show |
SPATA5L1 | ENSG00000171763.20 | transcript | ENST00000305560.11 | protein_coding | 765 | chr15 | TogoVar | |||||||
SPATA5L1_chr15_45397336_45426415 | 45403632 | GT | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(220): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0006a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(101): Show |
223 | 390 | 0.5718 | -1 | c.108 others(9): Show |
SPATA5L1 | ENSG00000171763.20 | transcript | ENST00000305560.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPATA5L1_chr15_45397336_45426415 | 45409374 | CA | C | intron_variant | MODIFIER | HG01070.hp1 HG01109.hp2 HG01167.hp2 others(62): Show |
a0002a0003a0005others(3): Show | a0002c0002a0003c0003a0003c0004others(7): Show | a0002c0002t0002a0003c0003t0002a0003c0003t0003others(8): Show | a0002c0002t0002g0144 a0003c0003t0002g0008 a0003c0003t0002g0019 others(30): Show |
65 | 390 | 0.1667 | -1 | c.127 others(9): Show |
SPATA5L1 | ENSG00000171763.20 | transcript | ENST00000305560.11 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |