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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA18_chr4_52046304_52102299 | 52047598 | TA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(142): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0004c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0129 a0001c0001t0002g0032 a0001c0001t0002g0142 others(109): Show |
145 | 308 | 0.4708 | -1 | c.-41 others(6): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 3705 | chr4 | TogoVar | |||||||
SPATA18_chr4_52046304_52102299 | 52047814 | TA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01516.hp2 HG01517.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0001 | a0001c0001t0002g0142 a0001c0001t0003g0028 a0001c0001t0003g0030 others(3): Show |
9 | 308 | 0.0292 | -1 | c.-38 others(6): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 3489 | chr4 | TogoVar | |||||||
SPATA18_chr4_52046304_52102299 | 52047818 | TA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00639.hp1 others(53): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0129 a0001c0001t0002g0003 a0001c0001t0002g0032 others(43): Show |
56 | 308 | 0.1818 | -1 | c.-38 others(6): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 3485 | chr4 | TogoVar | |||||||
SPATA18_chr4_52046304_52102299 | 52047819 | AT | A | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01167.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0006 a0001c0001t0003g0137 a0001c0001t0003g0143 others(1): Show |
4 | 308 | 0.0130 | -1 | c.-38 others(6): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 3484 | chr4 | TogoVar | |||||||
SPATA18_chr4_52046304_52102299 | 52062186 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(262): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0129 a0001c0001t0002g0003 a0001c0001t0002g0004 others(189): Show |
265 | 308 | 0.8604 | -1 | c.310 others(7): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA18_chr4_52046304_52102299 | 52067332 | AT | A | intron_variant | MODIFIER | HG00597.hp2 NA18970.hp2 NA18986.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 a0001c0001t0002g0099 |
5 | 308 | 0.0162 | -1 | c.423 others(9): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA18_chr4_52046304_52102299 | 52070880 | TG | T | intron_variant | MODIFIER | HG00673.hp2 HG01243.hp1 HG01255.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0002g0022 a0001c0001t0002g0056 a0001c0001t0002g0070 others(22): Show |
31 | 308 | 0.1007 | -1 | c.518 others(8): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA18_chr4_52046304_52102299 | 52078108 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(165): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0001g0129 a0001c0001t0003g0002 a0001c0001t0003g0006 others(125): Show |
168 | 308 | 0.5455 | -1 | c.102 others(9): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA18_chr4_52046304_52102299 | 52083741 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(105): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0002g0023 a0001c0001t0002g0057 a0001c0001t0002g0061 others(80): Show |
108 | 308 | 0.3507 | -1 | c.148 others(10): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA18_chr4_52046304_52102299 | 52084050 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(249): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0129 a0001c0001t0002g0003 a0001c0001t0002g0004 others(184): Show |
252 | 308 | 0.8182 | -1 | c.148 others(9): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA18_chr4_52046304_52102299 | 52085047 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(110): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0005others(3): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0001others(6): Show | a0001c0001t0002g0152 a0001c0001t0004g0026 a0001c0001t0004g0027 others(84): Show |
113 | 308 | 0.3669 | -1 | c.156 others(8): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA18_chr4_52046304_52102299 | 52089132 | CT | C | intron_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0021 | a0001c0001t0005g0011 a0001c0001t0005g0134 a0001c0001t0021g0217 |
5 | 308 | 0.0162 | -1 | c.156 others(10): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 11/12 | chr4 | TogoVar | |||||||
SPATA18_chr4_52046304_52102299 | 52096761 | CA | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(165): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0001g0129 a0001c0001t0003g0002 a0001c0001t0003g0006 others(125): Show |
168 | 308 | 0.5455 | -1 | c.*18 others(6): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 13/13 | 1887 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SPATA18_chr4_52046304_52102299 | 52097531 | CA | C | downstream_gene_variant | MODIFIER | HG02486.hp2 HG03453.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 a0001c0001t0004g0116 |
3 | 308 | 0.0097 | -1 | c.*26 others(6): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 233 | chr4 | TogoVar | |||||||
SPATA18_chr4_52046304_52102299 | 52100170 | CT | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(168): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(13): Show | a0001c0001t0001g0129 a0001c0001t0003g0002 a0001c0001t0003g0006 others(128): Show |
171 | 308 | 0.5552 | -1 | c.*52 others(6): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 2872 | chr4 | TogoVar | |||||||
SPATA1_chr1_84501386_84572379 | 84502132 | CT | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(96): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0159 a0001c0001t0001g0175 others(82): Show |
99 | 312 | 0.3173 | -1 | c.-44 others(6): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 4253 | chr1 | TogoVar | |||||||
SPATA1_chr1_84501386_84572379 | 84511655 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00621.hp1 others(95): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(13): Show | a0001c0001t0001g0060 a0001c0001t0001g0175 a0001c0001t0001g0176 others(78): Show |
98 | 312 | 0.3141 | -1 | c.-13 others(10): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84511678 | TC | T | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00621.hp1 others(52): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0003t0004a0001c0003t0006others(7): Show | a0001c0001t0001g0060 a0001c0003t0004g0002 a0001c0003t0004g0041 others(40): Show |
55 | 312 | 0.1763 | -1 | c.-13 others(10): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
SPATA1_chr1_84501386_84572379 | 84511679 | CT | C | intron_variant | MODIFIER | HG02809.hp2 HG03130.hp1 NA18954.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0008a0002c0002t0007 | a0001c0001t0001g0177 a0001c0006t0008g0016 a0001c0006t0008g0086 others(2): Show |
6 | 312 | 0.0192 | -1 | c.-13 others(10): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84513842 | AT | A | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02809.hp1 others(6): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0002c0002t0003a0002c0002t0007 | a0001c0003t0003g0105 a0001c0003t0003g0110 a0002c0002t0003g0103 others(6): Show |
9 | 312 | 0.0289 | -1 | c.-13 others(10): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84515183 | TA | T | intron_variant | MODIFIER | HG00741.hp2 HG01168.hp2 HG01169.hp2 others(19): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0001a0003c0004t0001a0003c0004t0006 | a0001c0003t0001g0075 a0003c0004t0001g0014 a0003c0004t0001g0015 others(17): Show |
22 | 312 | 0.0705 | -1 | c.-13 others(10): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 1/13 | chr1 | TogoVar | |||||||
SPATA1_chr1_84501386_84572379 | 84520530 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(304): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(261): Show |
307 | 312 | 0.9840 | -1 | c.37- others(6): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84522911 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0007a0001c0003t0003others(4): Show | a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0007g0017 others(63): Show |
75 | 312 | 0.2404 | -1 | c.261 others(8): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84526867 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00597.hp2 others(109): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(12): Show | a0001c0001t0001g0174 a0001c0001t0001g0211 a0001c0001t0001g0212 others(88): Show |
112 | 312 | 0.3590 | -1 | c.544 others(8): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84526968 | AG | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(43): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0003a0001c0003t0004a0002c0002t0002others(3): Show | a0001c0003t0003g0105 a0001c0003t0004g0055 a0001c0003t0004g0056 others(37): Show |
46 | 312 | 0.1474 | -1 | c.544 others(8): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84527732 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00621.hp1 others(75): Show |
a0001a0003a0004 | a0001c0003a0003c0004a0004c0005 | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(6): Show | a0001c0003t0001g0075 a0001c0003t0003g0102 a0001c0003t0003g0105 others(61): Show |
78 | 312 | 0.2500 | -1 | c.544 others(9): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84529352 | CA | C | intron_variant | MODIFIER | HG02723.hp2 HG02809.hp2 HG03130.hp1 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0008a0001c0006t0014 | a0001c0006t0008g0016 a0001c0006t0008g0086 a0001c0006t0008g0087 others(1): Show |
5 | 312 | 0.0160 | -1 | c.544 others(9): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 6/13 | chr1 | TogoVar | |||||||
SPATA1_chr1_84501386_84572379 | 84529858 | CT | C | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02818.hp2 others(3): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0006a0003c0004t0006 | a0001c0003t0006g0004 a0001c0003t0006g0027 a0001c0003t0006g0028 others(1): Show |
6 | 312 | 0.0192 | -1 | c.545 others(9): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84531570 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(110): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0003others(11): Show | a0001c0001t0001g0228 a0001c0003t0001g0088 a0001c0003t0001g0089 others(94): Show |
113 | 312 | 0.3622 | -1 | c.545 others(9): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84532495 | CA | C | intron_variant | MODIFIER | HG01891.hp1 HG02895.hp2 HG02897.hp2 others(6): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0004a0003c0004t0001 | a0001c0003t0004g0046 a0003c0004t0001g0015 a0003c0004t0001g0064 others(5): Show |
9 | 312 | 0.0289 | -1 | c.545 others(8): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84536881 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(292): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0013others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(249): Show |
295 | 312 | 0.9455 | -1 | c.717 others(9): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84538974 | AT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(172): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0006a0002c0002others(4): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(17): Show | a0001c0003t0001g0075 a0001c0003t0001g0088 a0001c0003t0001g0089 others(146): Show |
175 | 312 | 0.5609 | -1 | c.717 others(9): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84544570 | TA | T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02148.hp2 others(17): Show |
a0001a0004 | a0001c0003a0004c0005 | a0001c0003t0004a0004c0005t0001 | a0001c0003t0004g0054 a0004c0005t0001g0005 a0004c0005t0001g0010 others(12): Show |
20 | 312 | 0.0641 | -1 | c.820 others(8): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 9/13 | chr1 | TogoVar | |||||||
SPATA1_chr1_84501386_84572379 | 84545223 | AT | A | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02818.hp2 others(3): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0006a0003c0004t0006 | a0001c0003t0006g0004 a0001c0003t0006g0027 a0001c0003t0006g0028 others(1): Show |
6 | 312 | 0.0192 | -1 | c.821 others(8): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 9/13 | chr1 | TogoVar | |||||||
SPATA1_chr1_84501386_84572379 | 84546457 | CA | C | intron_variant | MODIFIER | HG02055.hp2 HG02148.hp2 HG02257.hp2 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0003t0004a0001c0006t0008others(4): Show | a0001c0001t0001g0252 a0001c0003t0004g0040 a0001c0003t0004g0054 others(8): Show |
12 | 312 | 0.0385 | -1 | c.946 others(8): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84548750 | CT | C | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00438.hp2 HG00597.hp2 others(48): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0001a0001c0003t0003a0001c0003t0004others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0166 a0001c0001t0001g0167 others(38): Show |
51 | 312 | 0.1635 | -1 | c.947 others(6): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84557553 | AG | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(80): Show |
a0001a0002a0003others(2): Show | a0001c0003a0002c0002a0003c0004others(2): Show | a0001c0003t0001a0001c0003t0003a0002c0002t0002others(6): Show | a0001c0003t0001g0075 a0001c0003t0003g0110 a0002c0002t0002g0006 others(67): Show |
83 | 312 | 0.2660 | -1 | c.129 others(10): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 13/13 | chr1 | TogoVar | |||||||
SPATA1_chr1_84501386_84572379 | 84558293 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00621.hp2 others(29): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0009 | a0001c0001t0001a0002c0002t0003a0002c0002t0006others(2): Show | a0001c0001t0001g0228 a0002c0002t0003g0020 a0002c0002t0003g0021 others(27): Show |
32 | 312 | 0.1026 | -1 | c.129 others(10): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84558604 | TA | T | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp2 HG01168.hp2 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0006a0002c0002others(2): Show | a0001c0003t0001a0001c0003t0011a0001c0006t0008others(3): Show | a0001c0003t0001g0075 a0001c0003t0011g0260 a0001c0003t0011g0261 others(23): Show |
29 | 312 | 0.0930 | -1 | c.129 others(10): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84563548 | TA | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01081.hp1 others(9): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0022 a0002c0002t0005g0023 a0002c0002t0005g0024 others(6): Show |
12 | 312 | 0.0385 | -1 | c.129 others(10): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84567736 | AT | A | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01081.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0022 a0002c0002t0005g0023 a0002c0002t0005g0024 others(3): Show |
9 | 312 | 0.0289 | -1 | c.*18 others(6): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 358 | chr1 | TogoVar | |||||||
SPATA1_chr1_84501386_84572379 | 84572228 | AT | A | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02818.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0003t0006a0003c0004t0006 | a0001c0001t0001g0252 a0001c0003t0006g0004 a0001c0003t0006g0027 others(2): Show |
7 | 312 | 0.0224 | -1 | c.*63 others(6): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 4850 | chr1 | TogoVar | |||||||
SPATA20_chr17_50542174_50560852 | 50544092 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(143): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0016a0002c0002others(9): Show | a0001c0001t0001a0001c0016t0001a0002c0002t0001others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(46): Show |
146 | 334 | 0.4371 | -1 | c.-31 others(6): Show |
SPATA20 | ENSG00000006282.22 | transcript | ENST00000006658.11 | protein_coding | 3081 | chr17 | TogoVar | |||||||
SPATA20_chr17_50542174_50560852 | 50553559 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(114): Show |
a0002a0004a0005others(4): Show | a0002c0002a0002c0008a0002c0025others(7): Show | a0002c0002t0001a0002c0008t0001a0002c0025t0001others(7): Show | a0002c0002t0001g0002 a0002c0002t0001g0019 a0002c0002t0001g0021 others(30): Show |
117 | 334 | 0.3503 | -1 | c.195 others(9): Show |
SPATA20 | ENSG00000006282.22 | transcript | ENST00000006658.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPATA20_chr17_50542174_50560852 | 50557190 | GA | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(299): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0006a0001c0016others(21): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0001others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(82): Show |
302 | 334 | 0.9042 | -1 | c.*15 others(6): Show |
SPATA20 | ENSG00000006282.22 | transcript | ENST00000006658.11 | protein_coding | 1339 | chr17 | TogoVar | |||||||
SPATA21_chr1_16393643_16442424 | 16402249 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(104): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(103): Show |
107 | 352 | 0.3040 | -1 | c.100 others(10): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 10/12 | chr1 | TogoVar | |||||||
SPATA21_chr1_16393643_16442424 | 16402621 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(168): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0018a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(166): Show |
171 | 352 | 0.4858 | -1 | c.100 others(10): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 10/12 | chr1 | TogoVar | |||||||
SPATA21_chr1_16393643_16442424 | 16403491 | TC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(130): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0018a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(129): Show |
133 | 352 | 0.3778 | -1 | c.100 others(9): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 10/12 | chr1 | TogoVar | |||||||
SPATA21_chr1_16393643_16442424 | 16405493 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(104): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0024 others(104): Show |
107 | 352 | 0.3040 | -1 | c.674 others(8): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 7/12 | chr1 | TogoVar | |||||||
SPATA21_chr1_16393643_16442424 | 16408032 | GC | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(133): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0018a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0017 others(132): Show |
136 | 352 | 0.3864 | -1 | c.673 others(9): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 7/12 | chr1 | TogoVar |