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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA21_chr1_16393643_16442424 | 16426579 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 352 | 0.0028 | 18 | c.35- others(33): Show |
SPATA21 | ENSG00000187144.11 | transcript | ENST00000335496.5 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
SPATA22_chr17_3435019_3476819 | 3435327 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0077 |
2 | 420 | 0.0048 | 18 | c.*48 others(29): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 4691 | chr17 | TogoVar | |||||||
SPATA22_chr17_3435019_3476819 | 3458855 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02451.hp2 HG04115.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0142 others(1): Show |
4 | 420 | 0.0095 | 18 | c.329 others(35): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
SPATA22_chr17_3435019_3476819 | 3463909 | T | TCCTCTCC others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01884.hp1 HG02155.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0055 others(18): Show |
25 | 420 | 0.0595 | 18 | c.173 others(35): Show |
SPATA22 | ENSG00000141255.13 | transcript | ENST00000572969.6 | protein_coding | 3/8 | chr17 | TogoVar | |||||||
SPATA2L_chr16_89691357_89706705 | 89702154 | G | GGGGGCGG others(11): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00621.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0023others(1): Show | a0001c0001t0001g0001 a0001c0001t0004g0004 a0001c0001t0004g0020 others(4): Show |
31 | 418 | 0.0742 | 18 | c.-52 others(27): Show |
SPATA2L | ENSG00000158792.16 | transcript | ENST00000289805.10 | protein_coding | 450 | chr16 | TogoVar | |||||||
SPATA31A1_chr9_39350669_39366962 | 39355585 | A | ACCTCCCC others(11): Show |
upstream_gene_variant | MODIFIER | HG00609.hp2 HG00741.hp2 HG01074.hp2 others(29): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0005a0001c0040others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0005t0002others(6): Show | a0001c0003t0001g0066 a0001c0003t0002g0065 a0001c0003t0002g0071 others(11): Show |
32 | 424 | 0.0755 | 18 | c.-14 others(27): Show |
SPATA31A1 | ENSG00000204849.10 | transcript | ENST00000377647.6 | protein_coding | 83 | chr9 | TogoVar | |||||||
SPATA31A1_chr9_39350669_39366962 | 39355598 | T | TCTGCCCC others(11): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 HG03710.hp1 |
a0003 | a0003c0004a0003c0024 | a0003c0004t0001a0003c0024t0001 | a0003c0004t0001g0002 a0003c0024t0001g0002 |
2 | 424 | 0.0047 | 18 | c.-13 others(27): Show |
SPATA31A1 | ENSG00000204849.10 | transcript | ENST00000377647.6 | protein_coding | 70 | chr9 | TogoVar | |||||||
SPATA31A1_chr9_39350669_39366962 | 39355603 | G | GCCTCCCC others(11): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG02027.hp1 HG02080.hp1 others(10): Show |
a0001a0002a0009others(1): Show | a0001c0003a0002c0002a0009c0022others(1): Show | a0001c0003t0001a0002c0002t0001a0009c0022t0002others(1): Show | a0001c0003t0001g0001 a0001c0003t0001g0003 a0002c0002t0001g0001 others(5): Show |
13 | 424 | 0.0307 | 18 | c.-12 others(27): Show |
SPATA31A1 | ENSG00000204849.10 | transcript | ENST00000377647.6 | protein_coding | 65 | chr9 | TogoVar | |||||||
SPATA31C1_chr9_87912962_87928657 | 87919241 | T | TTCTTGTC others(11): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(234): Show |
a0001a0002a0006others(32): Show | a0001c0001a0001c0015a0001c0043others(42): Show | a0001c0001t0001a0001c0015t0001a0001c0043t0001others(42): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0018 others(52): Show |
237 | 388 | 0.6108 | 18 | c.208 others(25): Show |
p.Arg others(11): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 2/4 | 255/3779 | 226/3567 | 76/1188 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
SPATA31C1_chr9_87912962_87928657 | 87919269 | C | CCAGCGTC others(11): Show |
disruptive_inframe_insertion | MODERATE | HG02723.hp2 HG02818.hp2 HG02886.hp2 others(4): Show |
a0012a0022a0038 | a0012c0013a0022c0020a0038c0064 | a0012c0013t0001a0022c0020t0001a0038c0064t0001 | a0012c0013t0001g0005 a0012c0013t0001g0019 a0022c0020t0001g0005 others(1): Show |
7 | 388 | 0.0180 | 18 | c.221 others(25): Show |
p.Ser others(29): Show |
SPATA31C1 | ENSG00000230246.9 | transcript | ENST00000706933.1 | protein_coding | 2/4 | 251/3779 | 222/3567 | 74/1188 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
SPATA31D4_chr9_81923428_81939998 | 81930201 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01069.hp1 HG01884.hp1 others(4): Show |
a0001a0004a0019others(1): Show | a0001c0001a0004c0004a0019c0024others(1): Show | a0001c0001t0002a0001c0001t0005a0004c0004t0001others(2): Show | a0001c0001t0002g0064 a0001c0001t0005g0038 a0004c0004t0001g0031 others(2): Show |
7 | 360 | 0.0194 | 18 | c.293 others(31): Show |
SPATA31D4 | ENSG00000189357.9 | transcript | ENST00000419782.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA31F3_chr9_34884066_34900764 | 34891005 | T | TGGATTCG others(11): Show |
intron_variant | MODIFIER | HG03209.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 2 | 434 | 0.0046 | 18 | c.359 others(35): Show |
SPATA31F3 | ENSG00000187791.13 | transcript | ENST00000340783.11 | protein_coding | 4/4 | chr9 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212826759 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00642.hp1 HG01496.hp1 others(26): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0014 others(14): Show |
29 | 402 | 0.0721 | 18 | c.*34 others(29): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 3381 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212826784 | A | AAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 402 | 0.0025 | 18 | c.*34 others(29): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 3356 | chr1 | TogoVar | |||||||
SPATA48_chr7_50090883_50164256 | 50125115 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03834.hp1 |
a0002 | a0002c0002a0002c0010 | a0002c0002t0001a0002c0010t0001 | a0002c0002t0001g0118 a0002c0010t0001g0308 |
2 | 328 | 0.0061 | 18 | c.652 others(35): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50141727 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 328 | 0.0031 | 18 | c.108 others(35): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50145614 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0266 | 1 | 328 | 0.0031 | 18 | c.108 others(37): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50145618 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 328 | 0.0031 | 18 | c.108 others(37): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122992978 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01515.hp2 HG01517.hp1 others(7): Show |
a0001a0003a0006 | a0001c0001a0001c0005a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(6): Show | a0001c0001t0001g0173 a0001c0001t0003g0066 a0001c0001t0015g0181 others(7): Show |
10 | 262 | 0.0382 | 18 | c.186 others(39): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123017249 | G | GGAGAGCG others(11): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0149 | 1 | 262 | 0.0038 | 18 | c.187 others(39): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123132597 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03540.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0152 a0002c0002t0003g0167 |
2 | 262 | 0.0076 | 18 | c.234 others(39): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA6L_chr9_4593316_4671480 | 4600483 | C | CAGAGAGA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02135.hp2 HG02165.hp1 others(8): Show |
a0001a0009 | a0001c0001a0009c0022 | a0001c0001t0018a0001c0001t0019a0001c0001t0037others(1): Show | a0001c0001t0018g0078 a0001c0001t0018g0183 a0001c0001t0018g0302 others(8): Show |
11 | 408 | 0.0270 | 18 | c.*32 others(27): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 12/12 | 3696 | chr9 | TogoVar | ||||||
SPATA6L_chr9_4593316_4671480 | 4629769 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0022 | a0001c0001t0012g0224 a0001c0001t0022g0082 |
2 | 408 | 0.0049 | 18 | c.352 others(33): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4629769 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02129.hp1 HG02135.hp2 others(9): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0006a0001c0014others(3): Show | a0001c0001t0012a0001c0001t0019a0001c0001t0037others(7): Show | a0001c0001t0012g0118 a0001c0001t0012g0119 a0001c0001t0012g0149 others(9): Show |
12 | 408 | 0.0294 | 18 | c.352 others(33): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4629769 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0005 | a0002c0005t0005 | a0002c0005t0005g0099 | 1 | 408 | 0.0025 | 18 | c.352 others(33): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4629769 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01255.hp1 HG01346.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0016a0001c0001t0019a0001c0004t0008others(7): Show | a0001c0001t0016g0396 a0001c0001t0019g0172 a0001c0001t0019g0179 others(17): Show |
20 | 408 | 0.0490 | 18 | c.352 others(33): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4629769 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 408 | 0.0025 | 18 | c.352 others(33): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48294090 | T | TAATTATA others(11): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0098 | 1 | 322 | 0.0031 | 18 | c.*46 others(29): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 1282 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48299516 | G | GAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG04184.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0150 a0001c0001t0006g0230 a0001c0001t0006g0231 |
3 | 322 | 0.0093 | 18 | c.128 others(35): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 12/12 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48384350 | C | CAGGGACA others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0223 | 1 | 322 | 0.0031 | 18 | c.909 others(33): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48428775 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01943.hp2 HG02698.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0156 others(2): Show |
5 | 322 | 0.0155 | 18 | c.239 others(37): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
SPATS1_chr6_44337650_44385179 | 44384203 | C | CCACACAG others(11): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0132 | 1 | 392 | 0.0026 | 18 | c.*71 others(29): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 4025 | chr6 | TogoVar | |||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 300 | 0.0033 | 18 | c.39+ others(33): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG02165.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0056others(1): Show | a0001c0001t0002g0194 a0001c0001t0003g0030 a0001c0001t0056g0294 others(1): Show |
4 | 300 | 0.0133 | 18 | c.39+ others(33): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01123.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0026 | a0001c0001t0001g0204 a0001c0001t0002g0150 a0001c0001t0026g0237 |
3 | 300 | 0.0100 | 18 | c.39+ others(33): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0257 | 1 | 300 | 0.0033 | 18 | c.39+ others(33): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396033 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0094 | 1 | 300 | 0.0033 | 18 | c.39+ others(33): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200468347 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02559.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0017a0001c0001t0041others(1): Show | a0001c0001t0005g0271 a0001c0001t0017g0142 a0001c0001t0017g0143 others(2): Show |
5 | 300 | 0.0167 | 18 | c.957 others(33): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200477515 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0004 | a0002c0004t0012 | a0002c0004t0012g0099 | 1 | 300 | 0.0033 | 18 | c.128 others(34): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49498145 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 158 | 0.0063 | 18 | c.703 others(35): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49498145 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 158 | 0.0063 | 18 | c.703 others(35): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPC24_chr19_11140493_11160782 | 11146465 | T | TAAAAAAA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02895.hp2 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0133a0001c0001t0157 | a0001c0001t0133g0096 a0001c0001t0157g0189 |
2 | 438 | 0.0046 | 18 | c.*70 others(27): Show |
SPC24 | ENSG00000161888.12 | transcript | ENST00000592540.6 | protein_coding | 5/5 | 717 | chr19 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74955851 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01256.hp2 HG03017.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0062 a0001c0001t0001g0105 others(5): Show |
9 | 378 | 0.0238 | 18 | c.114 others(35): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPDYC_chr11_65165233_65178374 | 65166391 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 442 | 0.0023 | 18 | c.-39 others(29): Show |
SPDYC | ENSG00000204710.3 | transcript | ENST00000377185.3 | protein_coding | 3841 | chr11 | TogoVar | |||||||
SPDYC_chr11_65165233_65178374 | 65167208 | C | CCACATCC others(11): Show |
upstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 442 | 0.0023 | 18 | c.-30 others(29): Show |
SPDYC | ENSG00000204710.3 | transcript | ENST00000377185.3 | protein_coding | 3024 | chr11 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73111754 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18990.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 a0001c0002t0001g0111 |
2 | 216 | 0.0093 | 18 | c.130 others(33): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 3/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73123765 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 216 | 0.0046 | 18 | c.-63 others(37): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73123788 | C | CCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01361.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0002t0001a0002c0003t0002others(2): Show | a0001c0001t0003g0186 a0001c0002t0001g0062 a0001c0002t0001g0070 others(7): Show |
10 | 216 | 0.0463 | 18 | c.-63 others(37): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73134523 | A | AAGAAAGA others(11): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 216 | 0.0046 | 18 | c.-63 others(39): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPDYE10_chr7_73099008_73160431 | 73134537 | A | AAGAAAGA others(11): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG01928.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0002g0154 a0001c0001t0002g0163 a0001c0001t0003g0170 others(9): Show |
12 | 216 | 0.0556 | 18 | c.-63 others(39): Show |
SPDYE10 | ENSG00000274570.6 | transcript | ENST00000691996.1 | protein_coding | 1/8 | chr7 | TogoVar |