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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPANXN5_chrX_52791144_52802427 | 52800867 | CTTTTCT | C | upstream_gene_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 303 | 0.0033 | -6 | c.-35 others(17): Show |
SPANXN5 | ENSG00000204363.5 | transcript | ENST00000375511.4 | protein_coding | 3441 | chrX | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87504135 | TTGTGTG | T | intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02258.hp1 others(18): Show |
a0002a0003a0004 | a0002c0001a0003c0004a0004c0005 | a0002c0001t0002a0003c0004t0001a0004c0005t0002others(1): Show | a0002c0001t0002g0003 a0002c0001t0002g0012 a0002c0001t0002g0265 others(14): Show |
21 | 390 | 0.0539 | -6 | c.-11 others(23): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87522640 | AACACAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(78): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0001c0008others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0006 others(72): Show |
81 | 390 | 0.2077 | -6 | c.-12 others(23): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
SPARC_chr5_151656096_151691915 | 151673966 | CTGTGTG | C | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp2 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0003g0099 a0001c0001t0003g0276 a0001c0001t0003g0290 others(18): Show |
28 | 442 | 0.0634 | -6 | c.120 others(21): Show |
SPARC | ENSG00000113140.11 | transcript | ENST00000231061.9 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
SPARC_chr5_151656096_151691915 | 151674004 | GTGTGCT | G | intron_variant | MODIFIER | HG00621.hp2 HG01346.hp1 HG02523.hp2 others(13): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0002g0034 a0001c0001t0002g0069 a0001c0001t0002g0073 others(12): Show |
16 | 442 | 0.0362 | -6 | c.120 others(21): Show |
SPARC | ENSG00000113140.11 | transcript | ENST00000231061.9 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
SPART_chr13_36296638_36351394 | 36300434 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG01081.hp1 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0001g0012 a0001c0001t0003g0006 a0001c0001t0003g0010 others(25): Show |
48 | 378 | 0.1270 | -6 | c.*39 others(17): Show |
SPART | ENSG00000133104.14 | transcript | ENST00000438666.7 | protein_coding | 1203 | chr13 | TogoVar | |||||||
SPART_chr13_36296638_36351394 | 36334403 | TCTCAAC | T | intron_variant | MODIFIER | HG01106.hp1 HG02647.hp1 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0046 a0001c0001t0004g0144 a0001c0001t0004g0200 others(2): Show |
6 | 378 | 0.0159 | -6 | c.810 others(21): Show |
SPART | ENSG00000133104.14 | transcript | ENST00000438666.7 | protein_coding | 2/8 | chr13 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32083655 | CTATATA | C | intron_variant | MODIFIER | HG01255.hp2 HG01496.hp2 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 a0001c0001t0004g0030 a0001c0001t0004g0033 |
3 | 342 | 0.0088 | -6 | c.416 others(23): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32086539 | GATCACC | G | intron_variant | MODIFIER | HG02258.hp1 HG03209.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0006 a0001c0001t0008g0007 a0001c0001t0008g0008 |
3 | 342 | 0.0088 | -6 | c.416 others(21): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32087861 | AATTATT | A | intron_variant | MODIFIER | HG01928.hp2 HG03139.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0056 a0001c0001t0003g0058 a0001c0001t0004g0298 |
3 | 342 | 0.0088 | -6 | c.502 others(21): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32091245 | CTATTAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(84): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0076 a0001c0001t0001g0116 a0001c0001t0001g0117 others(84): Show |
87 | 342 | 0.2544 | -6 | c.586 others(23): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32109949 | CATATGT | C | intron_variant | MODIFIER | HG02083.hp2 HG02258.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0048 a0001c0001t0008g0006 a0001c0001t0008g0007 others(2): Show |
5 | 342 | 0.0146 | -6 | c.683 others(23): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32111970 | TTAGTAG | T | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0199 a0001c0001t0004g0206 a0001c0001t0004g0207 |
3 | 342 | 0.0088 | -6 | c.683 others(23): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA12_chr3_57055664_57080432 | 57059996 | CAAAAAT | C | upstream_gene_variant | MODIFIER | HG02559.hp1 HG03453.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0234 others(1): Show |
4 | 440 | 0.0091 | -6 | c.-11 others(17): Show |
SPATA12 | ENSG00000186451.2 | transcript | ENST00000334325.2 | protein_coding | 667 | chr3 | TogoVar | |||||||
SPATA12_chr3_57055664_57080432 | 57067454 | AAATAAT | A | intron_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0129 a0001c0001t0001g0231 a0001c0001t0001g0234 others(5): Show |
9 | 440 | 0.0205 | -6 | c.-32 others(25): Show |
SPATA12 | ENSG00000186451.2 | transcript | ENST00000334325.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24173362 | TTGTGTG | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp2 others(155): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(106): Show | a0001c0001t0002g0082 a0001c0001t0002g0119 a0001c0001t0002g0132 others(155): Show |
158 | 356 | 0.4438 | -6 | c.-11 others(27): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24189648 | TATTATA | T | intron_variant | MODIFIER | HG02109.hp1 HG02723.hp1 HG03041.hp2 |
a0001a0002 | a0001c0002a0001c0005a0002c0037 | a0001c0002t0013a0001c0005t0015a0002c0037t0043 | a0001c0002t0013g0202 a0001c0005t0015g0204 a0002c0037t0043g0038 |
3 | 356 | 0.0084 | -6 | c.-11 others(27): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | chr13 | TogoVar | |||||||
SPATA13_chr13_24155720_24312069 | 24201031 | TCACACA | T | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp1 HG03453.hp1 others(6): Show |
a0001a0002a0017 | a0001c0003a0001c0004a0001c0006others(3): Show | a0001c0003t0003a0001c0003t0027a0001c0003t0028others(5): Show | a0001c0003t0003g0236 a0001c0003t0003g0262 a0001c0003t0027g0261 others(6): Show |
9 | 356 | 0.0253 | -6 | c.-11 others(27): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24233886 | AACACAC | A | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00673.hp2 others(49): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0016others(40): Show | a0001c0001t0002g0188 a0001c0001t0006g0248 a0001c0001t0016g0143 others(49): Show |
52 | 356 | 0.1461 | -6 | c.165 others(25): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24295670 | ACTCTCT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(34): Show |
a0001a0002a0008others(3): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0015a0001c0001t0016a0001c0001t0023others(31): Show | a0001c0001t0015g0347 a0001c0001t0016g0143 a0001c0001t0023g0004 others(34): Show |
37 | 356 | 0.1039 | -6 | c.321 others(23): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24309283 | TTATATA | T | downstream_gene_variant | MODIFIER | HG00639.hp1 HG02109.hp2 HG02486.hp2 others(10): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0005a0001c0029others(7): Show | a0001c0002t0050a0001c0005t0015a0001c0029t0086others(9): Show | a0001c0002t0050g0027 a0001c0002t0050g0338 a0001c0005t0015g0211 others(10): Show |
13 | 356 | 0.0365 | -6 | c.*65 others(17): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2215 | chr13 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172884713 | ATTTAAC | A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02258.hp2 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(3): Show | a0001c0001t0001g0087 a0001c0001t0004g0200 a0002c0002t0001g0011 others(7): Show |
10 | 200 | 0.0500 | -6 | c.*48 others(17): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 4643 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172957992 | TAGCTTA | T | intron_variant | MODIFIER | HG01433.hp1 HG01934.hp2 HG02273.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0004t0001a0003c0003t0001 | a0001c0001t0001g0033 a0001c0001t0001g0053 a0001c0001t0001g0130 others(2): Show |
5 | 200 | 0.0250 | -6 | c.934 others(23): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173015861 | GGTGTGT | G | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01255.hp2 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0069 a0001c0001t0001g0084 a0001c0001t0001g0086 others(28): Show |
31 | 200 | 0.1550 | -6 | c.848 others(23): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173062044 | ATTTTTT | A | intron_variant | MODIFIER | HG01433.hp2 HG02486.hp1 HG02809.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0004 a0002c0002t0001g0062 a0002c0002t0001g0110 others(3): Show |
6 | 200 | 0.0300 | -6 | c.613 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173075008 | AAAAAGG | A | intron_variant | MODIFIER | HG02109.hp2 HG02818.hp2 HG03041.hp1 others(2): Show |
a0002a0004 | a0002c0002a0004c0006a0004c0008 | a0002c0002t0001a0004c0006t0001a0004c0008t0001 | a0002c0002t0001g0196 a0004c0006t0001g0149 a0004c0006t0001g0150 others(2): Show |
5 | 200 | 0.0250 | -6 | c.613 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173093040 | AACACAC | A | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 HG02895.hp2 others(7): Show |
a0002a0005 | a0002c0002a0002c0005a0005c0009 | a0002c0002t0001a0002c0005t0001a0005c0009t0002 | a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140 others(7): Show |
10 | 200 | 0.0500 | -6 | c.612 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173100660 | GCACACA | G | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG01109.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0040 others(14): Show |
17 | 200 | 0.0850 | -6 | c.612 others(25): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173137822 | AACACAC | A | intron_variant | MODIFIER | HG01109.hp1 HG02559.hp1 HG02965.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0001 | a0001c0001t0001g0086 a0002c0002t0001g0141 a0002c0002t0001g0142 others(1): Show |
4 | 200 | 0.0200 | -6 | c.-19 others(23): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173144245 | ATTATGT | A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01081.hp1 others(44): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(7): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0137 others(44): Show |
47 | 200 | 0.2350 | -6 | c.-31 others(17): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3011 | chr3 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217634897 | TTTGTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(75): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(75): Show |
78 | 252 | 0.3095 | -6 | c.68+ others(21): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217659187 | AACACAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG01069.hp1 others(24): Show |
a0001 | a0001c0003a0001c0004a0001c0008others(1): Show | a0001c0003t0001a0001c0003t0003a0001c0003t0014others(7): Show | a0001c0003t0001g0215 a0001c0003t0001g0220 a0001c0003t0001g0231 others(24): Show |
27 | 252 | 0.1071 | -6 | c.240 others(23): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217727247 | CAATAAT | C | intron_variant | MODIFIER | HG01891.hp2 HG02004.hp2 HG02109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0007a0001c0002t0011others(3): Show | a0001c0001t0001g0119 a0001c0001t0001g0184 a0001c0002t0007g0051 others(8): Show |
11 | 252 | 0.0437 | -6 | c.396 others(25): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217770978 | ATTTTTT | A | intron_variant | MODIFIER | HG00609.hp2 HG02155.hp1 HG02717.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0162 others(7): Show |
10 | 252 | 0.0397 | -6 | c.520 others(23): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217779144 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(79): Show |
82 | 252 | 0.3254 | -6 | c.724 others(23): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217786750 | TTTCTTC | T | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp2 HG01981.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(10): Show | a0001c0001t0001g0016 a0001c0001t0001g0041 a0001c0001t0001g0123 others(25): Show |
28 | 252 | 0.1111 | -6 | c.872 others(23): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA18_chr4_52046304_52102299 | 52050315 | CATATAT | C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG01433.hp1 others(35): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0001others(4): Show | a0001c0001t0002g0032 a0001c0001t0002g0183 a0001c0001t0002g0185 others(30): Show |
38 | 308 | 0.1234 | -6 | c.-13 others(17): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 988 | chr4 | TogoVar | |||||||
SPATA18_chr4_52046304_52102299 | 52061487 | AAATAAT | A | intron_variant | MODIFIER | HG02258.hp2 HG03098.hp1 NA18967.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0045 a0001c0001t0002g0151 a0001c0001t0004g0219 others(1): Show |
4 | 308 | 0.0130 | -6 | c.309 others(21): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA19_chr11_133835631_133850513 | 133847234 | TACACAC | T | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01069.hp1 HG01071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 362 | 0.0166 | -6 | c.-17 others(17): Show |
SPATA19 | ENSG00000166118.8 | transcript | ENST00000299140.8 | protein_coding | 1722 | chr11 | TogoVar | |||||||
SPATA20_chr17_50542174_50560852 | 50554885 | CTGTGTG | C | intron_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG01261.hp2 others(8): Show |
a0001a0005a0007others(1): Show | a0001c0001a0005c0005a0007c0009others(1): Show | a0001c0001t0001a0005c0005t0001a0007c0009t0001others(1): Show | a0001c0001t0001g0036 a0005c0005t0001g0005 a0007c0009t0001g0005 others(1): Show |
11 | 334 | 0.0329 | -6 | c.215 others(23): Show |
SPATA20 | ENSG00000006282.22 | transcript | ENST00000006658.11 | protein_coding | 15/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPATA22_chr17_3435019_3476819 | 3463909 | TCCTCTC | T | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00423.hp1 others(114): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0011a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0011t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0009 others(72): Show |
117 | 420 | 0.2786 | -6 | c.173 others(23): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
SPATA25_chr20_45881491_45892622 | 45884105 | TACACAC | T | downstream_gene_variant | MODIFIER | HG01074.hp1 HG02602.hp1 HG02896.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0002c0002t0001g0002 |
3 | 406 | 0.0074 | -6 | c.*24 others(17): Show |
SPATA25 | ENSG00000149634.5 | transcript | ENST00000372519.4 | protein_coding | 2385 | chr20 | TogoVar | |||||||
SPATA2_chr20_49898391_49920529 | 49903409 | TTTATTA | T | 3_prime_UTR_variant | MODIFIER | HG06807.hp1 NA18959.hp2 NA21309.hp1 |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0087a0001c0004t0088a0002c0003t0091 | a0001c0004t0087g0193 a0001c0004t0088g0115 a0002c0003t0091g0073 |
3 | 426 | 0.0070 | -6 | c.*22 others(17): Show |
SPATA2 | ENSG00000158480.11 | transcript | ENST00000289431.10 | protein_coding | 3/3 | 2204 | chr20 | TogoVar | ||||||
SPATA2_chr20_49898391_49920529 | 49903898 | GATAGAT | G | 3_prime_UTR_variant | MODIFIER | HG01099.hp2 HG01123.hp2 HG01358.hp2 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0001t0056a0001c0004t0096 | a0001c0001t0008g0009 a0001c0001t0008g0018 a0001c0001t0008g0188 others(2): Show |
11 | 426 | 0.0258 | -6 | c.*17 others(17): Show |
SPATA2 | ENSG00000158480.11 | transcript | ENST00000289431.10 | protein_coding | 3/3 | 1715 | chr20 | TogoVar | ||||||
SPATA2_chr20_49898391_49920529 | 49903902 | GATATAT | G | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00738.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0072 | a0001c0001t0009g0021 a0001c0001t0009g0025 a0001c0001t0009g0040 others(1): Show |
9 | 426 | 0.0211 | -6 | c.*17 others(17): Show |
SPATA2 | ENSG00000158480.11 | transcript | ENST00000289431.10 | protein_coding | 3/3 | 1711 | chr20 | TogoVar | ||||||
SPATA31A3_chr9_66981304_66997550 | 66991734 | TACACAC | T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG02976.hp2 others(4): Show |
a0009a0015a0039 | a0009c0009a0015c0027a0015c0058others(1): Show | a0009c0009t0001a0015c0027t0001a0015c0058t0001others(1): Show | a0009c0009t0001g0031 a0015c0027t0001g0035 a0015c0058t0001g0075 others(1): Show |
7 | 406 | 0.0172 | -6 | c.189 others(21): Show |
SPATA31A3 | ENSG00000275969.3 | transcript | ENST00000428649.5 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SPATA31A6_chr9_42178659_42194887 | 42184439 | CTGTGTG | C | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG00741.hp2 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0027a0002c0002others(5): Show | a0001c0001t0001a0001c0027t0001a0002c0002t0002others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0064 a0001c0027t0001g0007 others(6): Show |
14 | 182 | 0.0769 | -6 | c.190 others(21): Show |
SPATA31A6 | ENSG00000185775.10 | transcript | ENST00000332857.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA31F1_chr9_34718053_34734488 | 34721399 | TTCTCTC | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00738.hp2 others(39): Show |
a0002a0003a0008others(3): Show | a0002c0002a0002c0037a0003c0004others(4): Show | a0002c0002t0002a0002c0037t0002a0003c0004t0003others(4): Show | a0002c0002t0002g0002 a0002c0037t0002g0051 a0003c0004t0003g0004 others(6): Show |
42 | 448 | 0.0938 | -6 | c.*18 others(17): Show |
SPATA31F1 | ENSG00000205108.6 | transcript | ENST00000378788.4 | protein_coding | 1653 | chr9 | TogoVar | |||||||
SPATA32_chr17_45249393_45267094 | 45250258 | TACACAC | T | downstream_gene_variant | MODIFIER | HG01099.hp1 HG03209.hp1 HG03540.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0001a0002c0002t0001 | a0001c0001t0001g0036 a0001c0001t0001g0057 a0001c0006t0001g0047 others(2): Show |
6 | 414 | 0.0145 | -6 | c.*41 others(17): Show |
SPATA32 | ENSG00000184361.13 | transcript | ENST00000331780.5 | protein_coding | 4134 | chr17 | TogoVar | |||||||
SPATA32_chr17_45249393_45267094 | 45266983 | TACTTGC | T | upstream_gene_variant | MODIFIER | NA18988.hp2 NA18989.hp2 NA18998.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 4 | 414 | 0.0097 | -6 | c.-49 others(17): Show |
SPATA32 | ENSG00000184361.13 | transcript | ENST00000331780.5 | protein_coding | 4890 | chr17 | TogoVar |