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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPATA5L1_chr15_45397336_45426415 | 45412398 | CA | C | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(50): Show |
a0003 | a0003c0003a0003c0009a0003c0018 | a0003c0003t0002a0003c0003t0003a0003c0009t0002others(1): Show | a0003c0003t0002g0008 a0003c0003t0002g0019 a0003c0003t0002g0025 others(22): Show |
53 | 390 | 0.1359 | -1 | c.143 others(10): Show |
SPATA5L1 | ENSG00000171763.20 | transcript | ENST00000305560.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPATA5L1_chr15_45397336_45426415 | 45413002 | AC | A | intron_variant | MODIFIER | HG02717.hp1 HG02818.hp2 HG03540.hp1 |
a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0046 a0005c0007t0002g0122 |
3 | 390 | 0.0077 | -1 | c.143 others(10): Show |
SPATA5L1 | ENSG00000171763.20 | transcript | ENST00000305560.11 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPATA5L1_chr15_45397336_45426415 | 45415495 | CA | C | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(47): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0002others(3): Show | a0001c0001t0001g0062 a0001c0001t0001g0086 a0002c0002t0002g0140 others(22): Show |
50 | 390 | 0.1282 | -1 | c.164 others(8): Show |
SPATA5L1 | ENSG00000171763.20 | transcript | ENST00000305560.11 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPATA5L1_chr15_45397336_45426415 | 45417839 | AT | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 NA18966.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0016 a0002c0002t0002g0047 a0002c0002t0002g0133 |
8 | 390 | 0.0205 | -1 | c.196 others(9): Show |
SPATA5L1 | ENSG00000171763.20 | transcript | ENST00000305560.11 | protein_coding | 6/7 | chr15 | TogoVar | |||||||
SPATA5L1_chr15_45397336_45426415 | 45418343 | CA | C | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp1 HG01167.hp2 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(3): Show | a0001c0001t0001g0065 a0001c0001t0004g0119 a0002c0002t0002g0139 others(5): Show |
9 | 390 | 0.0231 | -1 | c.196 others(9): Show |
SPATA5L1 | ENSG00000171763.20 | transcript | ENST00000305560.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPATA5L1_chr15_45397336_45426415 | 45419997 | CA | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00544.hp1 others(123): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0012others(7): Show | a0001c0001t0001a0001c0006t0001a0001c0012t0001others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(51): Show |
126 | 390 | 0.3231 | -1 | c.209 others(10): Show |
SPATA5L1 | ENSG00000171763.20 | transcript | ENST00000305560.11 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPATA5L1_chr15_45397336_45426415 | 45424371 | TA | T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00609.hp2 HG00673.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0013 others(11): Show |
24 | 390 | 0.0615 | -1 | c.*31 others(6): Show |
SPATA5L1 | ENSG00000171763.20 | transcript | ENST00000305560.11 | protein_coding | 2957 | chr15 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 122921618 | AC | A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG02976.hp1 HG03041.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(5): Show | a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0206 others(19): Show |
22 | 262 | 0.0840 | -1 | c.-15 others(6): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 1459 | chr4 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 122931107 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(71): Show |
a0001a0007a0008 | a0001c0001a0001c0005a0007c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(71): Show |
74 | 262 | 0.2824 | -1 | c.446 others(9): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122934059 | AT | A | intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02145.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(8): Show | a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0002g0163 others(15): Show |
18 | 262 | 0.0687 | -1 | c.506 others(7): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122939022 | TA | T | intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02145.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(8): Show | a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0002g0163 others(15): Show |
18 | 262 | 0.0687 | -1 | c.145 others(9): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122939075 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(77): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0005a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(77): Show |
80 | 262 | 0.3053 | -1 | c.145 others(9): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122940924 | TC | T | intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02145.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(8): Show | a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0002g0163 others(15): Show |
18 | 262 | 0.0687 | -1 | c.145 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122957917 | AT | A | intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02145.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(8): Show | a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0002g0163 others(15): Show |
18 | 262 | 0.0687 | -1 | c.171 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122964501 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(193): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(193): Show |
196 | 262 | 0.7481 | -1 | c.171 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122971730 | TA | T | intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02145.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(8): Show | a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0002g0163 others(15): Show |
18 | 262 | 0.0687 | -1 | c.171 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122974647 | CT | C | intron_variant | MODIFIER | HG01109.hp2 HG02015.hp2 HG03490.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0040 | a0001c0001t0001g0107 a0001c0001t0001g0247 a0001c0001t0001g0250 others(5): Show |
8 | 262 | 0.0305 | -1 | c.171 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122981463 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(216): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(73): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(216): Show |
219 | 262 | 0.8359 | -1 | c.186 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122982510 | GT | G | intron_variant | MODIFIER | HG02145.hp1 HG02896.hp1 HG02897.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0010 | a0002c0002t0003g0152 a0002c0002t0010g0150 a0002c0002t0010g0151 |
3 | 262 | 0.0115 | -1 | c.186 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122985125 | CT | C | intron_variant | MODIFIER | HG01517.hp2 HG02109.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(1): Show | a0001c0001t0001g0194 a0001c0001t0002g0136 a0001c0001t0014g0122 others(2): Show |
5 | 262 | 0.0191 | -1 | c.186 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122985750 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01071.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 others(18): Show |
21 | 262 | 0.0802 | -1 | c.186 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122988065 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(217): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(217): Show |
220 | 262 | 0.8397 | -1 | c.186 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122988401 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(195): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(68): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(195): Show |
198 | 262 | 0.7557 | -1 | c.186 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 122992769 | AC | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(71): Show |
a0001a0007a0008 | a0001c0001a0001c0005a0007c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(71): Show |
74 | 262 | 0.2824 | -1 | c.186 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | chr4 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 122998197 | TG | T | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 NA18966.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009 | a0001c0001t0008g0091 a0001c0001t0008g0092 a0001c0001t0009g0093 others(2): Show |
5 | 262 | 0.0191 | -1 | c.186 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | chr4 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 123010401 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(194): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(194): Show |
197 | 262 | 0.7519 | -1 | c.187 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123016128 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(193): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(193): Show |
196 | 262 | 0.7481 | -1 | c.187 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | chr4 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 123017359 | CT | C | intron_variant | MODIFIER | HG00323.hp1 HG01256.hp1 HG02965.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0034others(3): Show | a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0121 others(6): Show |
9 | 262 | 0.0344 | -1 | c.187 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123017414 | AT | A | intron_variant | MODIFIER | HG01192.hp2 HG02280.hp1 HG02738.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0012a0001c0001t0029others(2): Show | a0001c0001t0002g0131 a0001c0001t0002g0135 a0001c0001t0012g0241 others(5): Show |
8 | 262 | 0.0305 | -1 | c.187 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123018800 | AT | A | intron_variant | MODIFIER | HG01167.hp1 HG01975.hp1 HG02027.hp1 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0073a0001c0004t0002others(5): Show | a0001c0001t0001g0113 a0001c0001t0073g0019 a0001c0004t0002g0142 others(7): Show |
10 | 262 | 0.0382 | -1 | c.187 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123023607 | CT | C | intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02145.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(8): Show | a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0002g0163 others(15): Show |
18 | 262 | 0.0687 | -1 | c.187 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123024304 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(194): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(194): Show |
197 | 262 | 0.7519 | -1 | c.187 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123025250 | AG | A | intron_variant | MODIFIER | HG02148.hp2 NA18948.hp1 NA18950.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0060 | a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0080 others(4): Show |
7 | 262 | 0.0267 | -1 | c.187 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123025553 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(196): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(196): Show |
199 | 262 | 0.7595 | -1 | c.187 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123030777 | AT | A | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 NA18966.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009 | a0001c0001t0008g0091 a0001c0001t0008g0092 a0001c0001t0009g0093 others(2): Show |
5 | 262 | 0.0191 | -1 | c.207 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123041277 | AT | A | intron_variant | MODIFIER | HG01192.hp2 HG02257.hp2 HG02280.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0012a0001c0001t0052a0002c0002t0003others(1): Show | a0001c0001t0012g0241 a0001c0001t0012g0244 a0001c0001t0012g0246 others(3): Show |
6 | 262 | 0.0229 | -1 | c.207 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123044121 | GT | G | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00642.hp1 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0110 others(55): Show |
58 | 262 | 0.2214 | -1 | c.208 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123046583 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG01175.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 others(9): Show |
12 | 262 | 0.0458 | -1 | c.208 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123047357 | AC | A | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00639.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0110 others(58): Show |
61 | 262 | 0.2328 | -1 | c.208 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 11/15 | chr4 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 123051136 | AT | A | intron_variant | MODIFIER | HG01361.hp1 HG01891.hp1 HG02145.hp1 others(15): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(8): Show | a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0002g0163 others(15): Show |
18 | 262 | 0.0687 | -1 | c.208 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123051640 | CT | C | intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG03492.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0008a0001c0001t0009a0003c0003t0001 | a0001c0001t0008g0091 a0001c0001t0008g0092 a0001c0001t0009g0093 others(4): Show |
7 | 262 | 0.0267 | -1 | c.208 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123054417 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(195): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(195): Show |
198 | 262 | 0.7557 | -1 | c.208 others(10): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123068736 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(231): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(80): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(231): Show |
234 | 262 | 0.8931 | -1 | c.221 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123070251 | AT | A | intron_variant | MODIFIER | HG02109.hp2 HG02965.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014a0001c0001t0029 | a0001c0001t0002g0136 a0001c0001t0014g0122 a0001c0001t0014g0125 others(1): Show |
4 | 262 | 0.0153 | -1 | c.221 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123071485 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(198): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(198): Show |
201 | 262 | 0.7672 | -1 | c.221 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123074446 | TC | T | intron_variant | MODIFIER | HG04199.hp1 NA18522.hp2 NA20129.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0001c0001t0019a0003c0003t0005 | a0001c0001t0006g0003 a0001c0001t0019g0001 a0001c0001t0019g0002 others(1): Show |
4 | 262 | 0.0153 | -1 | c.221 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 13/15 | chr4 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 123074447 | CT | C | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp2 HG01123.hp1 others(42): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(24): Show | a0001c0001t0001g0127 a0001c0001t0002g0115 a0001c0001t0002g0123 others(42): Show |
45 | 262 | 0.1718 | -1 | c.221 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123075976 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(119): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0110 others(119): Show |
122 | 262 | 0.4657 | -1 | c.221 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123076860 | TC | T | intron_variant | MODIFIER | HG01192.hp2 HG02257.hp2 HG02280.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0012a0001c0001t0052a0005c0008t0015others(1): Show | a0001c0001t0012g0241 a0001c0001t0012g0244 a0001c0001t0012g0246 others(3): Show |
6 | 262 | 0.0229 | -1 | c.221 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 13/15 | chr4 | TogoVar | |||||||
SPATA5_chr4_122918078_123324433 | 123077046 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(177): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0032 a0001c0001t0001g0051 a0001c0001t0001g0062 others(177): Show |
180 | 262 | 0.6870 | -1 | c.221 others(11): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |