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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA48_chr7_50090883_50164256 | 50125197 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(2): Show |
a0002a0003 | a0002c0002a0003c0006 | a0002c0002t0003a0003c0006t0001 | a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0244 others(2): Show |
5 | 328 | 0.0152 | 8 | c.652 others(25): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50125261 | C | CACATATA others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 HG02895.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0242 a0002c0002t0003g0243 a0002c0002t0003g0244 others(1): Show |
4 | 328 | 0.0122 | 8 | c.652 others(25): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50127617 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02886.hp2 others(7): Show |
a0001a0006 | a0001c0001a0006c0008 | a0001c0001t0001a0001c0001t0004a0006c0008t0001 | a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0105 others(6): Show |
10 | 328 | 0.0305 | 8 | c.652 others(25): 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(1): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01891.hp1 HG02145.hp1 others(26): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0002c0002t0003a0002c0005t0001others(4): Show | a0001c0001t0001g0163 a0001c0001t0001g0170 a0001c0001t0001g0212 others(25): Show |
29 | 328 | 0.0884 | 8 | c.108 others(25): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50145608 | A | ATGTATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(12): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0004 a0002c0002t0001g0024 a0002c0002t0001g0035 others(11): Show |
15 | 328 | 0.0457 | 8 | c.108 others(27): 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(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG01433.hp1 others(9): Show |
a0001a0009 | a0001c0001a0009c0012 | a0001c0001t0001a0009c0012t0001 | a0001c0001t0001g0026 a0001c0001t0001g0111 a0001c0001t0001g0117 others(9): Show |
12 | 328 | 0.0366 | 8 | c.108 others(27): 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(1): Show |
intron_variant | MODIFIER | HG02148.hp2 HG02572.hp2 HG02647.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0219 others(3): Show |
6 | 328 | 0.0183 | 8 | c.108 others(27): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA48_chr7_50090883_50164256 | 50152664 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00597.hp2 others(59): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0030 others(54): Show |
62 | 328 | 0.1890 | 8 | c.119 others(27): Show |
SPATA48 | ENSG00000164500.7 | transcript | ENST00000297001.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122948387 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03130.hp2 NA18945.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0040a0001c0001t0044others(1): Show | a0001c0001t0003g0182 a0001c0001t0040g0248 a0001c0001t0044g0236 others(1): Show |
4 | 262 | 0.0153 | 8 | c.171 others(25): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122951433 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02698.hp2 HG04199.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0191 a0001c0001t0002g0034 a0001c0001t0002g0035 others(5): Show |
8 | 262 | 0.0305 | 8 | c.171 others(27): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122996570 | C | CAGATAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(60): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(30): Show | a0001c0001t0001g0062 a0001c0001t0001g0100 a0001c0001t0001g0103 others(60): Show |
63 | 262 | 0.2405 | 8 | c.186 others(29): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123007608 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0027a0001c0001t0039 | a0001c0001t0002g0131 a0001c0001t0027g0116 a0001c0001t0039g0141 |
3 | 262 | 0.0115 | 8 | c.187 others(29): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123007666 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01975.hp1 HG02074.hp1 others(18): Show |
a0001a0006a0007 | a0001c0001a0001c0004a0006c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0175 a0001c0001t0002g0022 a0001c0001t0002g0024 others(18): Show |
21 | 262 | 0.0802 | 8 | c.187 others(29): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123074095 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(60): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0110 others(60): Show |
63 | 262 | 0.2405 | 8 | c.221 others(29): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123084614 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01109.hp1 HG01175.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 others(14): Show |
17 | 262 | 0.0649 | 8 | c.221 others(27): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123102798 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02015.hp2 HG02040.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0107 a0001c0001t0001g0207 a0001c0001t0001g0250 others(9): Show |
12 | 262 | 0.0458 | 8 | c.234 others(29): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123132487 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02896.hp2 HG02897.hp1 |
a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0150 a0002c0002t0010g0151 a0002c0002t0010g0169 |
3 | 262 | 0.0115 | 8 | c.234 others(29): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123132597 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00733.hp1 others(53): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0110 others(53): Show |
56 | 262 | 0.2137 | 8 | c.234 others(29): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123179307 | C | CTACTTAC others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG03017.hp1 HG03579.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0046a0001c0001t0058others(1): Show | a0001c0001t0001g0097 a0001c0001t0001g0186 a0001c0001t0001g0192 others(5): Show |
8 | 262 | 0.0305 | 8 | c.234 others(29): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123183933 | T | TATTCATT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01071.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0020others(7): Show | a0001c0001t0001g0103 a0001c0001t0001g0171 a0001c0001t0001g0176 others(18): Show |
21 | 262 | 0.0802 | 8 | c.234 others(29): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123196167 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01928.hp1 HG01978.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0110 a0001c0001t0001g0199 a0001c0001t0001g0209 others(12): Show |
15 | 262 | 0.0573 | 8 | c.234 others(29): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123247224 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(70): Show |
a0001a0003a0008 | a0001c0001a0001c0009a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0107 others(70): Show |
73 | 262 | 0.2786 | 8 | 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 | 123247582 | A | ATGTTTGT others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00735.hp2 others(20): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0185 a0001c0001t0001g0208 a0001c0001t0001g0209 others(20): Show |
23 | 262 | 0.0878 | 8 | 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 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01256.hp1 HG01258.hp2 others(14): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0103 others(14): Show |
17 | 262 | 0.0649 | 8 | c.250 others(29): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA6L_chr9_4593316_4671480 | 4629769 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01255.hp2 HG01257.hp1 others(8): Show |
a0001a0015 | a0001c0001a0001c0006a0015c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0024 a0001c0001t0001g0280 a0001c0001t0001g0316 others(8): Show |
11 | 408 | 0.0270 | 8 | c.352 others(23): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4638176 | T | TAGGAAGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(52): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0218 a0001c0001t0001g0338 a0001c0001t0002g0341 others(52): Show |
55 | 408 | 0.1348 | 8 | c.227 others(25): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4646123 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02257.hp2 HG02622.hp1 others(15): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(7): Show | a0001c0001t0001g0218 a0001c0001t0001g0319 a0001c0001t0003g0056 others(15): Show |
18 | 408 | 0.0441 | 8 | c.226 others(25): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4656437 | A | AAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02129.hp2 HG02886.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0002g0011 others(11): Show |
14 | 408 | 0.0343 | 8 | c.178 others(23): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48297125 | G | GGTGTGTG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00735.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0038 | a0001c0001t0007g0139 a0001c0001t0007g0300 a0001c0001t0007g0301 others(9): Show |
12 | 322 | 0.0373 | 8 | c.*15 others(19): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 13/13 | 1587 | chr1 | TogoVar | ||||||
SPATA6_chr1_48290373_48477204 | 48299516 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01167.hp2 HG02723.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(4): Show | a0001c0001t0001g0089 a0001c0001t0004g0229 a0001c0001t0004g0256 others(10): Show |
13 | 322 | 0.0404 | 8 | c.128 others(25): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 12/12 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48371270 | T | TATAGATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00423.hp1 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(5): Show | a0001c0001t0004g0257 a0001c0001t0004g0272 a0001c0001t0004g0278 others(24): Show |
27 | 322 | 0.0839 | 8 | c.910 others(27): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 9/12 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48428775 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00639.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021a0001c0001t0024 | a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 others(22): Show |
25 | 322 | 0.0776 | 8 | c.239 others(27): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
SPATA6_chr1_48290373_48477204 | 48428809 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00735.hp1 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0007a0001c0001t0015others(4): Show | a0001c0001t0006g0143 a0001c0001t0007g0301 a0001c0001t0007g0302 others(20): Show |
23 | 322 | 0.0714 | 8 | c.239 others(27): Show |
SPATA6 | ENSG00000132122.12 | transcript | ENST00000371847.8 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
SPATA7_chr14_88380657_88443460 | 88418272 | C | CTTTGACT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02109.hp1 HG02145.hp2 others(16): Show |
a0004a0006 | a0004c0004a0006c0005 | a0004c0004t0001a0006c0005t0001a0006c0005t0003 | a0004c0004t0001g0012 a0004c0004t0001g0013 a0004c0004t0001g0036 others(11): Show |
19 | 364 | 0.0522 | 8 | c.372 others(25): Show |
SPATA7 | ENSG00000042317.17 | transcript | ENST00000393545.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SPATA7_chr14_88380657_88443460 | 88429890 | C | CTATTTAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(152): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(128): Show |
155 | 364 | 0.4258 | 8 | c.102 others(25): Show |
SPATA7 | ENSG00000042317.17 | transcript | ENST00000393545.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SPATA7_chr14_88380657_88443460 | 88442172 | C | CTGTTTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0003 a0001c0001t0001g0028 a0001c0001t0001g0030 others(17): Show |
23 | 364 | 0.0632 | 8 | c.*37 others(19): Show |
SPATA7 | ENSG00000042317.17 | transcript | ENST00000393545.9 | protein_coding | 3713 | chr14 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46161031 | G | GCGGGGAG others(1): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG01981.hp1 HG02630.hp1 others(6): Show |
a0001a0021 | a0001c0003a0021c0029 | a0001c0003t0005a0021c0029t0005 | a0001c0003t0005g0021 a0001c0003t0005g0022 a0001c0003t0005g0023 others(6): Show |
9 | 251 | 0.0359 | 8 | c.*34 others(17): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 128 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46162590 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00642.hp1 others(19): Show |
a0001a0006a0014others(4): Show | a0001c0001a0001c0003a0001c0022others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(14): Show | a0001c0001t0001g0087 a0001c0001t0002g0068 a0001c0001t0002g0115 others(19): Show |
22 | 251 | 0.0877 | 8 | c.545 others(23): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
SPATC1L_chr21_46156160_46189459 | 46164794 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG01884.hp2 others(17): Show |
a0002a0013 | a0002c0002a0013c0030 | a0002c0002t0003a0002c0002t0026a0002c0002t0027others(1): Show | a0002c0002t0003g0004 a0002c0002t0003g0008 a0002c0002t0003g0042 others(13): Show |
20 | 251 | 0.0797 | 8 | c.545 others(25): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 3/4 | chr21 | TogoVar | |||||||
SPATS1_chr6_44337650_44385179 | 44341266 | A | ATATCTAT others(1): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG01257.hp1 HG01258.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0088 a0001c0001t0001g0101 others(6): Show |
10 | 392 | 0.0255 | 8 | c.-15 others(19): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 1383 | chr6 | TogoVar | |||||||
SPATS1_chr6_44337650_44385179 | 44344390 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01891.hp2 HG02027.hp2 others(29): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(6): Show | a0001c0001t0004g0022 a0001c0001t0004g0063 a0001c0001t0004g0064 others(27): Show |
32 | 392 | 0.0816 | 8 | c.139 others(25): Show |
SPATS1 | ENSG00000249481.7 | transcript | ENST00000674044.1 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200305826 | C | CTAAATAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(181): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0159 a0001c0001t0001g0179 a0001c0001t0001g0202 others(181): Show |
184 | 300 | 0.6133 | 8 | c.-11 others(19): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 866 | chr2 | TogoVar | |||||||
SPATS2L_chr2_200301693_200487264 | 200332772 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(82): Show |
a0001a0005a0006others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(24): Show | a0001c0001t0001g0196 a0001c0001t0001g0202 a0001c0001t0001g0204 others(82): Show |
85 | 300 | 0.2833 | 8 | 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 | 200360967 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01884.hp1 HG02723.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0265 a0001c0001t0002g0268 a0001c0001t0003g0120 others(10): Show |
13 | 300 | 0.0433 | 8 | c.-22 others(27): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200418581 | T | TAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01099.hp1 others(21): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0174 a0001c0001t0003g0040 a0001c0001t0004g0111 others(21): Show |
24 | 300 | 0.0800 | 8 | c.199 others(23): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2L_chr2_200301693_200487264 | 200468347 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02280.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0032a0001c0002t0016a0001c0002t0070 | a0001c0001t0032g0010 a0001c0002t0016g0279 a0001c0002t0016g0280 others(4): Show |
7 | 300 | 0.0233 | 8 | c.957 others(23): Show |
SPATS2L | ENSG00000196141.14 | transcript | ENST00000409140.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATS2_chr12_49362462_49532425 | 49385357 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01123.hp2 others(18): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0002 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 others(18): Show |
21 | 158 | 0.1329 | 8 | c.-24 others(29): Show |
SPATS2 | ENSG00000123352.18 | transcript | ENST00000552918.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SPC25_chr2_168865891_168895430 | 168888957 | G | GTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03453.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 3 | 360 | 0.0083 | 8 | c.199 others(23): Show |
SPC25 | ENSG00000152253.9 | transcript | ENST00000282074.7 | protein_coding | 3/6 | chr2 | TogoVar | |||||||
SPCS2_chr11_74944266_74984033 | 74951810 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01099.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 a0001c0001t0002g0181 a0001c0001t0002g0222 others(11): Show |
15 | 378 | 0.0397 | 8 | c.114 others(25): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SPCS2_chr11_74944266_74984033 | 74955851 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01106.hp1 HG01109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0118 a0001c0001t0001g0161 others(7): Show |
10 | 378 | 0.0265 | 8 | c.114 others(25): Show |
SPCS2 | ENSG00000118363.13 | transcript | ENST00000263672.11 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |