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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA45_chr1_212825141_212852649 | 212826759 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01070.hp2 HG01071.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0034 others(14): Show |
24 | 402 | 0.0597 | -6 | c.*34 others(17): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 3381 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212843094 | CAAACAT | C | intron_variant | MODIFIER | NA18952.hp2 NA18973.hp1 NA18990.hp1 others(2): Show |
a0003 | a0003c0000 | a0003c0000t0002 | a0003c0000t0002g0011 | 5 | 402 | 0.0124 | -6 | c.-39 others(23): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212843100 | TACACAC | T | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG03239.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0065 a0001c0001t0001g0068 |
5 | 402 | 0.0124 | -6 | c.-39 others(23): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212848318 | CTTGTTG | C | upstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG02109.hp1 others(9): Show |
a0002a0003 | a0002c0002a0003c0000 | a0002c0002t0001a0003c0000t0002 | a0002c0002t0001g0164 a0003c0000t0002g0011 a0003c0000t0002g0028 others(2): Show |
12 | 402 | 0.0299 | -6 | c.-78 others(15): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 670 | chr1 | TogoVar | |||||||
SPATA45_chr1_212825141_212852649 | 212851766 | AAAAAAG | A | upstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG03492.hp1 others(8): Show |
a0003 | a0003c0000 | a0003c0000t0002 | a0003c0000t0002g0011 a0003c0000t0002g0028 a0003c0000t0002g0048 others(1): Show |
11 | 402 | 0.0274 | -6 | c.-42 others(17): Show |
SPATA45 | ENSG00000185523.6 | transcript | ENST00000332912.3 | protein_coding | 4118 | chr1 | TogoVar | |||||||
SPATA48_chr7_50090883_50164256 | 50125115 | TACACAC | T | intron_variant | MODIFIER | HG02622.hp2 HG02922.hp1 HG03516.hp1 others(2): Show |
a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0251 a0002c0005t0001g0253 a0002c0005t0001g0254 others(2): Show |
5 | 328 | 0.0152 | -6 | c.652 others(23): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50125151 | CATATAT | C | intron_variant | MODIFIER | HG01433.hp2 HG02056.hp2 HG02683.hp1 others(4): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0035 a0002c0002t0001g0039 a0002c0002t0001g0053 others(4): Show |
7 | 328 | 0.0213 | -6 | c.652 others(23): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50125261 | CACACAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(131): Show |
a0001a0004a0005others(3): Show | a0001c0001a0004c0004a0005c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0004c0004t0001others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(125): Show |
134 | 328 | 0.4085 | -6 | c.652 others(23): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50125313 | TATATAC | T | intron_variant | MODIFIER | HG01433.hp1 HG01891.hp1 HG01993.hp2 others(32): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0006a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0034 a0001c0001t0001g0105 a0001c0001t0001g0172 others(31): Show |
35 | 328 | 0.1067 | -6 | c.652 others(23): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA4_chr4_176179579_176200585 | 176182405 | GTATATA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(228): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(70): Show |
231 | 456 | 0.5066 | -6 | c.*23 others(17): Show |
SPATA4 | ENSG00000150628.7 | transcript | ENST00000280191.7 | protein_coding | 2173 | chr4 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 122948387 | TACACAC | T | intron_variant | MODIFIER | HG00642.hp2 HG01433.hp2 HG01884.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0099 a0001c0001t0001g0171 a0001c0001t0001g0173 others(8): Show |
11 | 262 | 0.0420 | -6 | c.171 others(23): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123017234 | AAGGGAG | A | intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02922.hp1 others(6): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(5): Show | a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0002g0163 others(6): Show |
9 | 262 | 0.0344 | -6 | c.187 others(27): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123017249 | GGAGAGC | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(103): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(103): Show |
106 | 262 | 0.4046 | -6 | c.187 others(27): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123017414 | ATTTTTT | A | intron_variant | MODIFIER | HG02145.hp1 HG02809.hp1 HG02809.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0010a0002c0002t0017others(3): Show | a0002c0002t0003g0152 a0002c0002t0010g0150 a0002c0002t0010g0151 others(4): Show |
7 | 262 | 0.0267 | -6 | c.187 others(27): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123026105 | ATGTGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG00733.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 others(14): Show |
17 | 262 | 0.0649 | -6 | c.187 others(25): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123095079 | GTGTATA | G | intron_variant | MODIFIER | HG02698.hp2 HG03490.hp2 HG03492.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0002a0008c0010t0002 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0090 others(1): Show |
4 | 262 | 0.0153 | -6 | c.234 others(25): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123095081 | GTATATA | G | intron_variant | MODIFIER | HG02165.hp1 HG02280.hp2 HG03098.hp2 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0022a0003c0003t0023a0003c0003t0055 | a0003c0003t0022g0009 a0003c0003t0023g0007 a0003c0003t0023g0008 others(1): Show |
4 | 262 | 0.0153 | -6 | c.234 others(25): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123116922 | TTATTTC | T | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp2 HG02970.hp1 others(1): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0031a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0004t0031g0147 a0002c0002t0001g0160 a0002c0002t0002g0163 others(1): Show |
4 | 262 | 0.0153 | -6 | c.234 others(27): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123173340 | GTTTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(60): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0107 others(60): Show |
63 | 262 | 0.2405 | -6 | c.234 others(27): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123299117 | ATGTGTG | A | intron_variant | MODIFIER | HG02145.hp1 HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0150 a0002c0002t0010g0151 a0002c0002t0010g0169 |
3 | 262 | 0.0115 | -6 | c.250 others(27): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA6L_chr9_4593316_4671480 | 4597319 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01081.hp2 HG01099.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0014others(9): Show | a0001c0001t0001g0024 a0001c0001t0001g0097 a0001c0001t0001g0132 others(33): Show |
37 | 408 | 0.0907 | -6 | c.*34 others(17): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 996 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4644183 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(91): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0008others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(89): Show |
94 | 408 | 0.2304 | -6 | c.227 others(23): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4644658 | TTCTCTC | T | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01081.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0006a0003c0003t0005 | a0001c0001t0002g0069 a0001c0001t0006g0237 a0003c0003t0005g0067 others(3): Show |
6 | 408 | 0.0147 | -6 | c.227 others(23): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4644683 | TCTCACA | T | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG00639.hp2 others(67): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(18): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0160 others(67): Show |
70 | 408 | 0.1716 | -6 | c.227 others(23): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4644685 | TCACACA | T | intron_variant | MODIFIER | HG01099.hp2 HG02145.hp2 HG02257.hp2 others(10): Show |
a0001a0003a0011 | a0001c0001a0001c0004a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(6): Show | a0001c0001t0001g0197 a0001c0001t0001g0218 a0001c0001t0002g0076 others(9): Show |
13 | 408 | 0.0319 | -6 | c.227 others(23): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4649062 | TACACAC | T | intron_variant | MODIFIER | HG02004.hp1 NA18952.hp1 NA18980.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 a0001c0001t0002g0311 a0001c0001t0002g0339 |
3 | 408 | 0.0074 | -6 | c.226 others(23): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4650824 | TTGTGTG | T | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02145.hp1 others(15): Show |
a0001a0005a0010 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(7): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0160 others(15): Show |
18 | 408 | 0.0441 | -6 | c.226 others(23): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4656961 | GGAAAGA | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(30): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0006a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0066 a0001c0001t0001g0075 a0001c0001t0002g0069 others(30): Show |
33 | 408 | 0.0809 | -6 | c.178 others(21): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4661463 | CTTTTTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(59): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0066 others(59): Show |
62 | 408 | 0.1520 | -6 | c.177 others(21): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48297125 | GGTGTGT | G | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00609.hp2 others(48): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0006a0002c0002t0031 | a0001c0001t0004g0229 a0001c0001t0004g0256 a0001c0001t0004g0257 others(48): Show |
51 | 322 | 0.1584 | -6 | c.*15 others(17): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 13/13 | 1582 | chr1 | TogoVar | ||||||
SPATA6_chr1_48290373_48477204 | 48384326 | GAGGGAC | G | intron_variant | MODIFIER | HG00544.hp1 NA19070.hp1 NA19086.hp2 |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0001a0005c0006t0001 | a0002c0002t0001g0019 a0002c0002t0001g0027 a0005c0006t0001g0032 |
3 | 322 | 0.0093 | -6 | c.909 others(21): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48384350 | CAGGGAG | C | intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00621.hp2 others(37): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0003g0105 a0001c0001t0004g0288 a0001c0001t0004g0289 others(37): Show |
40 | 322 | 0.1242 | -6 | c.909 others(21): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48421909 | ATAAAAT | A | intron_variant | MODIFIER | HG01943.hp1 HG02145.hp2 HG02257.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011a0001c0001t0017 | a0001c0001t0008g0235 a0001c0001t0008g0236 a0001c0001t0008g0239 others(11): Show |
14 | 322 | 0.0435 | -6 | c.239 others(23): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48428775 | ATGTGTG | A | intron_variant | MODIFIER | HG01123.hp1 HG01891.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0195 a0001c0001t0006g0230 a0001c0001t0006g0231 others(2): Show |
5 | 322 | 0.0155 | -6 | c.239 others(25): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48469472 | TTATATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(105): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(20): Show | a0001c0001t0002g0100 a0001c0001t0002g0152 a0001c0001t0002g0153 others(105): Show |
108 | 322 | 0.3354 | -6 | c.51+ others(21): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 1/12 | chr1 | TogoVar | |||||||
SPATA7_chr14_88380657_88443460 | 88402337 | CAATCTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(90): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0001a0002c0002t0004a0002c0010t0001 | a0002c0002t0001g0001 a0002c0002t0001g0006 a0002c0002t0001g0011 others(65): Show |
93 | 364 | 0.2555 | -6 | c.238 others(23): Show |
SPATA7 | ENSG00000042317.17 | transcript | ENST00000393545.9 | protein_coding | 4/11 | chr14 | TogoVar | |||||||
SPATA9_chr5_95653315_95687991 | 95658200 | GACTCAA | G | downstream_gene_variant | MODIFIER | HG01255.hp1 HG02055.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0100 a0001c0001t0001g0102 |
5 | 380 | 0.0132 | -6 | c.*41 others(15): Show |
SPATA9 | ENSG00000145757.16 | transcript | ENST00000274432.13 | protein_coding | 114 | chr5 | TogoVar | |||||||
SPATS1_chr6_44337650_44385179 | 44379599 | CAAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02135.hp1 HG02451.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0015a0001c0001t0038a0001c0001t0045others(2): Show | a0001c0001t0015g0019 a0001c0001t0015g0054 a0001c0001t0015g0099 others(6): Show |
10 | 392 | 0.0255 | -6 | c.*25 others(17): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 9/9 | 2559 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SPATS1_chr6_44337650_44385179 | 44379622 | AAAAAAG | A | 3_prime_UTR_variant | MODIFIER | HG01109.hp2 HG01361.hp1 HG01981.hp2 others(5): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0008a0002c0002t0028a0002c0002t0030others(1): Show | a0002c0002t0008g0162 a0002c0002t0008g0167 a0002c0002t0008g0168 others(5): Show |
8 | 392 | 0.0204 | -6 | c.*25 others(17): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 9/9 | 2563 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SPATS2L_chr2_200301693_200487264 | 200332161 | AGAGAGG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(286): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(89): Show | a0001c0001t0001g0159 a0001c0001t0001g0179 a0001c0001t0001g0196 others(286): Show |
289 | 300 | 0.9633 | -6 | c.-23 others(23): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200352311 | TTTTATA | T | intron_variant | MODIFIER | HG01106.hp1 HG02280.hp1 HG02922.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0004a0001c0001t0010a0001c0001t0013others(6): Show | a0001c0001t0004g0038 a0001c0001t0010g0008 a0001c0001t0013g0085 others(6): Show |
9 | 300 | 0.0300 | -6 | c.-23 others(25): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200373270 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00639.hp2 others(34): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0179 a0001c0001t0002g0154 a0001c0001t0002g0157 others(34): Show |
37 | 300 | 0.1233 | -6 | c.-22 others(25): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396031 | AAAATAT | A | intron_variant | MODIFIER | HG00438.hp1 HG01074.hp1 HG04228.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0159 a0001c0001t0002g0181 a0001c0001t0008g0054 others(8): Show |
11 | 300 | 0.0367 | -6 | c.39+ others(21): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200396062 | ATATATT | A | intron_variant | MODIFIER | HG00544.hp1 NA18522.hp1 NA18962.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0033a0001c0001t0034others(1): Show | a0001c0001t0005g0186 a0001c0001t0033g0039 a0001c0001t0034g0146 others(1): Show |
4 | 300 | 0.0133 | -6 | c.39+ others(21): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200457223 | TACACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(147): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0159 a0001c0001t0001g0179 a0001c0001t0001g0196 others(147): Show |
150 | 300 | 0.5000 | -6 | c.789 others(23): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200477515 | TAAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp2 others(41): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0001t0014others(17): Show | a0001c0001t0001g0251 a0001c0001t0001g0260 a0001c0001t0009g0152 others(41): Show |
44 | 300 | 0.1467 | -6 | c.128 others(22): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49372940 | TTGTGTG | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG02055.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0033 a0001c0001t0001g0058 a0001c0001t0001g0075 others(20): Show |
23 | 158 | 0.1456 | -6 | c.-24 others(25): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49375141 | AGTGTGT | A | intron_variant | MODIFIER | HG01978.hp1 HG02055.hp1 HG02135.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0019 others(20): Show |
23 | 158 | 0.1456 | -6 | c.-24 others(25): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49403594 | TACACAC | T | intron_variant | MODIFIER | HG01167.hp1 HG02293.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0095 a0001c0001t0004g0124 a0001c0001t0004g0125 others(1): Show |
4 | 158 | 0.0253 | -6 | c.-24 others(27): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49410929 | CTTTTAG | C | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01071.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(8): Show |
11 | 158 | 0.0696 | -6 | c.-24 others(27): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |