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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZSCAN5A_chr19_56216303_56319839 | 56223762 | T | TG | frameshift_variant | HIGH | NA18949.hp1 | a0008 | a0008c0017 | a0008c0017t0001 | a0008c0017t0001g0277 | 1 | 362 | 0.0028 | 1 | c.456 others(4): Show |
p.Ser others(5): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 4/6 | 844/2151 | 456/1491 | 152/496 | chr19 | TogoVar | |||
ZSCAN5A_chr19_56216303_56319839 | 56223765 | A | AG | frameshift_variant | HIGH | NA18968.hp2 | a0009 | a0009c0008 | a0009c0008t0010 | a0009c0008t0010g0360 | 1 | 362 | 0.0028 | 1 | c.453 others(4): Show |
p.Ser others(5): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 4/6 | 841/2151 | 453/1491 | 151/496 | chr19 | TogoVar | |||
ZSCAN5A_chr19_56216303_56319839 | 56225182 | G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp2 others(106): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0001c0012others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(10): Show | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0027 others(106): Show |
109 | 362 | 0.3011 | 1 | c.-12 others(8): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56225184 | A | AG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(158): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0020 others(156): Show |
161 | 362 | 0.4448 | 1 | c.-12 others(16): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56233612 | C | CT | intron_variant | MODIFIER | HG02647.hp2 HG02895.hp1 HG02897.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0007t0002others(1): Show | a0001c0001t0001g0149 a0001c0001t0001g0196 a0001c0001t0001g0197 others(5): Show |
8 | 362 | 0.0221 | 1 | c.-12 others(10): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56238795 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00621.hp2 others(63): Show |
a0001a0002a0011 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0007t0001others(4): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0024 others(63): Show |
66 | 362 | 0.1823 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56242788 | T | TA | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(186): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(185): Show |
189 | 362 | 0.5221 | 1 | c.-12 others(22): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56244817 | A | AG | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01243.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0064 a0001c0001t0001g0142 a0001c0001t0001g0143 others(15): Show |
18 | 362 | 0.0497 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56245205 | C | CT | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG01358.hp1 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0061 a0001c0001t0001g0071 a0001c0001t0001g0083 others(31): Show |
34 | 362 | 0.0939 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56251148 | T | TA | intron_variant | MODIFIER | HG01169.hp2 HG02080.hp1 HG02602.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0067 a0001c0001t0001g0117 a0001c0001t0001g0193 others(5): Show |
8 | 362 | 0.0221 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56251546 | C | CA | intron_variant | MODIFIER | HG02922.hp1 HG02976.hp2 HG03098.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0003c0004t0001 | a0001c0001t0001g0154 a0001c0001t0001g0198 a0001c0001t0001g0243 others(4): Show |
7 | 362 | 0.0193 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56253267 | C | CA | intron_variant | MODIFIER | HG02486.hp2 HG02622.hp1 HG02630.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0004c0005t0001 | a0001c0001t0001g0080 a0001c0001t0001g0096 a0001c0001t0001g0181 others(4): Show |
7 | 362 | 0.0193 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56254059 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(154): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0019 others(153): Show |
157 | 362 | 0.4337 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56254652 | T | TG | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(100): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(99): Show |
103 | 362 | 0.2845 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56260214 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(113): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(112): Show |
116 | 362 | 0.3204 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56261203 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(109): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(107): Show |
112 | 362 | 0.3094 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56263972 | C | CT | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG01081.hp1 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(10): Show | a0001c0001t0001g0043 a0001c0001t0001g0062 a0001c0001t0001g0064 others(98): Show |
101 | 362 | 0.2790 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56266492 | A | AC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(197): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(196): Show |
200 | 362 | 0.5525 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56266493 | C | CT | intron_variant | MODIFIER | HG01175.hp1 HG01952.hp2 HG02602.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0002a0002c0002t0001 | a0001c0001t0001g0045 a0001c0001t0001g0098 a0001c0001t0001g0113 others(6): Show |
9 | 362 | 0.0249 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56270149 | G | GA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00639.hp1 others(20): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0015 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 others(20): Show |
23 | 362 | 0.0635 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56278101 | A | AT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(108): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0020 others(107): Show |
111 | 362 | 0.3066 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56284513 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00733.hp1 others(38): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 others(38): Show |
41 | 362 | 0.1133 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56293855 | C | CA | intron_variant | MODIFIER | HG00741.hp1 HG02004.hp2 HG02970.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0060 a0001c0001t0001g0111 a0001c0001t0001g0125 others(3): Show |
6 | 362 | 0.0166 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56296422 | G | GT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(146): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0023 a0001c0001t0001g0027 a0001c0001t0001g0028 others(145): Show |
149 | 362 | 0.4116 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56297069 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(129): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0040 others(128): Show |
132 | 362 | 0.3646 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56298067 | C | CA | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG01109.hp1 others(33): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0052 others(33): Show |
36 | 362 | 0.0995 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56299444 | T | TA | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01109.hp1 others(43): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0001g0064 others(43): Show |
46 | 362 | 0.1271 | 1 | c.-12 others(11): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56302563 | C | CT | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01255.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0242 others(6): Show |
9 | 362 | 0.0249 | 1 | c.-12 others(22): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56315044 | A | AT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp2 others(182): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(182): Show |
185 | 362 | 0.5111 | 1 | c.-59 others(5): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 206 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56318231 | C | CT | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00642.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0181 others(24): Show |
27 | 362 | 0.0746 | 1 | c.-37 others(6): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 3393 | chr19 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56319498 | G | GA | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01496.hp1 HG01981.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0145 a0001c0001t0001g0259 others(9): Show |
12 | 362 | 0.0332 | 1 | c.-50 others(6): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 4660 | chr19 | TogoVar | |||||||
ZSCAN5B_chr19_56184686_56202783 | 56186406 | A | AT | downstream_gene_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG01891.hp1 others(42): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0011a0002c0002others(14): Show | a0001c0001t0001a0001c0011t0002a0002c0002t0001others(15): Show | a0001c0001t0001g0013 a0001c0001t0001g0048 a0001c0001t0001g0110 others(29): Show |
45 | 470 | 0.0957 | 1 | c.*34 others(12): Show |
ZSCAN5B | ENSG00000197213.11 | transcript | ENST00000586855.7 | protein_coding | 3279 | chr19 | TogoVar | |||||||
ZSCAN5B_chr19_56184686_56202783 | 56187987 | A | AT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00621.hp2 others(32): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0004c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0004 a0001c0001t0002g0005 a0002c0002t0001g0002 others(21): Show |
35 | 470 | 0.0745 | 1 | c.*18 others(12): Show |
ZSCAN5B | ENSG00000197213.11 | transcript | ENST00000586855.7 | protein_coding | 1698 | chr19 | TogoVar | |||||||
ZSCAN5B_chr19_56184686_56202783 | 56191625 | A | AC | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp2 HG00735.hp2 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0045 a0001c0001t0001g0127 a0001c0001t0001g0129 others(11): Show |
19 | 470 | 0.0404 | 1 | c.588 others(8): Show |
ZSCAN5B | ENSG00000197213.11 | transcript | ENST00000586855.7 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
ZSCAN5B_chr19_56184686_56202783 | 56192026 | A | AT | frameshift_variant | HIGH | HG02071.hp1 | a0019 | a0019c0035 | a0019c0035t0001 | a0019c0035t0001g0089 | 1 | 470 | 0.0021 | 1 | c.411 others(4): Show |
p.Tyr others(5): Show |
ZSCAN5B | ENSG00000197213.11 | transcript | ENST00000586855.7 | protein_coding | 3/5 | 588/1806 | 411/1488 | 137/495 | chr19 | TogoVar | |||
ZSCAN5B_chr19_56184686_56202783 | 56193956 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp2 HG01071.hp2 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0119 a0001c0001t0001g0121 others(7): Show |
24 | 470 | 0.0511 | 1 | c.-12 others(9): Show |
ZSCAN5B | ENSG00000197213.11 | transcript | ENST00000586855.7 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
ZSCAN5B_chr19_56184686_56202783 | 56197177 | C | CT | intron_variant | MODIFIER | HG00423.hp2 HG02486.hp1 HG02647.hp1 others(7): Show |
a0002a0003a0004others(4): Show | a0002c0002a0003c0003a0004c0004others(4): Show | a0002c0002t0001a0003c0003t0002a0004c0004t0001others(4): Show | a0002c0002t0001g0165 a0003c0003t0002g0063 a0003c0003t0002g0064 others(5): Show |
10 | 470 | 0.0213 | 1 | c.-12 others(9): Show |
ZSCAN5B | ENSG00000197213.11 | transcript | ENST00000586855.7 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
ZSCAN5B_chr19_56184686_56202783 | 56198525 | G | GT | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00621.hp1 others(50): Show |
a0001a0004a0005others(4): Show | a0001c0001a0004c0004a0004c0036others(6): Show | a0001c0001t0001a0004c0004t0001a0004c0004t0002others(7): Show | a0001c0001t0001g0026 a0004c0004t0001g0003 a0004c0004t0001g0012 others(16): Show |
53 | 470 | 0.1128 | 1 | c.-92 others(10): Show |
ZSCAN5B | ENSG00000197213.11 | transcript | ENST00000586855.7 | protein_coding | 743 | chr19 | TogoVar | |||||||
ZSCAN5B_chr19_56184686_56202783 | 56199306 | C | CA | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00621.hp1 others(61): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(13): Show | a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0002g0005 others(26): Show |
64 | 470 | 0.1362 | 1 | c.-17 others(12): Show |
ZSCAN5B | ENSG00000197213.11 | transcript | ENST00000586855.7 | protein_coding | 1524 | chr19 | TogoVar | |||||||
ZSCAN5B_chr19_56184686_56202783 | 56200134 | G | GT | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01257.hp1 HG01258.hp1 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0002g0007 others(6): Show |
11 | 470 | 0.0234 | 1 | c.-25 others(12): Show |
ZSCAN5B | ENSG00000197213.11 | transcript | ENST00000586855.7 | protein_coding | 2352 | chr19 | TogoVar | |||||||
ZSCAN5C_chr19_56197273_56214461 | 56198525 | G | GT | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00621.hp2 others(46): Show |
a0002a0003a0005others(4): Show | a0002c0002a0002c0052a0003c0003others(5): Show | a0002c0002t0001a0002c0052t0001a0003c0003t0009others(6): Show | a0002c0002t0001g0005 a0002c0052t0001g0128 a0003c0003t0009g0072 others(22): Show |
49 | 472 | 0.1038 | 1 | c.-39 others(12): Show |
ZSCAN5C | ENSG00000204532.9 | transcript | ENST00000534327.7 | protein_coding | 3747 | chr19 | TogoVar | |||||||
ZSCAN5C_chr19_56197273_56214461 | 56199306 | C | CA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00621.hp2 others(59): Show |
a0002a0003a0005others(9): Show | a0002c0002a0002c0052a0003c0003others(11): Show | a0002c0002t0001a0002c0052t0001a0003c0003t0002others(13): Show | a0002c0002t0001g0001 a0002c0002t0001g0005 a0002c0052t0001g0128 others(34): Show |
62 | 472 | 0.1314 | 1 | c.-31 others(12): Show |
ZSCAN5C | ENSG00000204532.9 | transcript | ENST00000534327.7 | protein_coding | 2966 | chr19 | TogoVar | |||||||
ZSCAN5C_chr19_56197273_56214461 | 56200134 | G | GT | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01257.hp1 HG01258.hp1 others(8): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(5): Show | a0001c0001t0001g0002 a0002c0002t0001g0109 a0002c0002t0001g0152 others(6): Show |
11 | 472 | 0.0233 | 1 | c.-23 others(12): Show |
ZSCAN5C | ENSG00000204532.9 | transcript | ENST00000534327.7 | protein_coding | 2138 | chr19 | TogoVar | |||||||
ZSCAN5C_chr19_56197273_56214461 | 56203640 | A | AT | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp1 others(32): Show |
a0001a0002a0004others(8): Show | a0001c0001a0002c0002a0002c0052others(11): Show | a0001c0001t0001a0002c0002t0001a0002c0052t0001others(12): Show | a0001c0001t0001g0041 a0001c0001t0001g0150 a0002c0002t0001g0005 others(17): Show |
35 | 472 | 0.0742 | 1 | c.-12 others(10): Show |
ZSCAN5C | ENSG00000204532.9 | transcript | ENST00000534327.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZSCAN5C_chr19_56197273_56214461 | 56207479 | T | TA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(133): Show |
a0001a0005a0006others(15): Show | a0001c0001a0005c0004a0006c0006others(16): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(22): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 others(57): Show |
136 | 472 | 0.2881 | 1 | c.588 others(16): Show |
ZSCAN5C | ENSG00000204532.9 | transcript | ENST00000534327.7 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
ZSCAN5C_chr19_56197273_56214461 | 56207479 | T | TG | intron_variant | MODIFIER | HG00673.hp1 HG00733.hp1 HG00735.hp1 others(49): Show |
a0001a0006a0007others(9): Show | a0001c0001a0001c0058a0006c0006others(12): Show | a0001c0001t0001a0001c0058t0001a0006c0006t0001others(13): Show | a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0041 others(31): Show |
52 | 472 | 0.1102 | 1 | c.588 others(8): Show |
ZSCAN5C | ENSG00000204532.9 | transcript | ENST00000534327.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZSCAN5C_chr19_56197273_56214461 | 56209138 | T | TA | frameshift_variant | HIGH | NA19062.hp1 | a0046 | a0046c0033 | a0046c0033t0004 | a0046c0033t0004g0057 | 1 | 472 | 0.0021 | 1 | c.142 others(10): Show |
p.Phe others(5): Show |
ZSCAN5C | ENSG00000204532.9 | transcript | ENST00000534327.7 | protein_coding | 5/5 | 1607/1929 | 1430/1491 | 477/496 | chr19 | TogoVar | |||
ZSCAN5C_chr19_56197273_56214461 | 56210944 | T | TA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(277): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0058a0002c0002others(30): Show | a0001c0001t0001a0001c0001t0004a0001c0058t0001others(34): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0011 others(102): Show |
280 | 472 | 0.5932 | 1 | c.*17 others(12): Show |
ZSCAN5C | ENSG00000204532.9 | transcript | ENST00000534327.7 | protein_coding | 1484 | chr19 | TogoVar | |||||||
ZSCAN5C_chr19_56197273_56214461 | 56213792 | G | GT | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00741.hp1 HG01175.hp2 others(22): Show |
a0001a0002a0003others(8): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0002others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0002c0002t0001g0001 others(13): Show |
25 | 472 | 0.0530 | 1 | c.*45 others(12): Show |
ZSCAN5C | ENSG00000204532.9 | transcript | ENST00000534327.7 | protein_coding | 4332 | chr19 | TogoVar | |||||||
ZSCAN9_chr6_28220275_28238487 | 28221561 | C | CA | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0047 others(4): Show |
9 | 416 | 0.0216 | 1 | c.-38 others(12): Show |
ZSCAN9 | ENSG00000137185.13 | transcript | ENST00000252207.10 | protein_coding | 3713 | chr6 | TogoVar |