| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PRR20A_chr13_57135918_57148939 | 57140442 | ACGCACCA others(6563): Show |
A | transcript_ablation | HIGH | HG03831.hp1 | a0005 | a0005c0000 | a0005c0000t0000 | a0005c0000t0000g0000 | 1 | 271 | 0.0037 | -6570 | c.-70 others(10): Show |
p.0? | PRR20A | ENSG00000204919.1 | transcript | ENST00000377931.1 | protein_coding | 3/3 | chr13 | TogoVar | ||||||
| LHFPL3_chr7_104323603_104913561 | 104827778 | AGTTATTT others(6536): Show |
A | intron_variant | MODIFIER | HG02451.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0002 a0001c0001t0009g0076 |
2 | 86 | 0.0233 | -6543 | c.683 others(19): Show |
LHFPL3 | ENSG00000187416.13 | transcript | ENST00000424859.7 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
| HLCS_chr21_36743626_36971669 | 36778971 | GGTTCCTT others(6501): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0242 | 1 | 256 | 0.0039 | -6508 | c.189 others(21): Show |
HLCS | ENSG00000159267.17 | transcript | ENST00000674895.3 | protein_coding | 6/10 | chr21 | TogoVar | |||||||
| AFF3_chr2_99540419_100147590 | 99901885 | AAGAAGGC others(6483): Show |
A | intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0035 | a0002c0002t0035g0087 | 1 | 98 | 0.0102 | -6490 | c.874 others(19): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 7/24 | chr2 | TogoVar | |||||||
| FFAR3_chr19_35353460_35365489 | 35359023 | CGCCGCCC others(6459): Show |
C | frameshift_variant others(4): Show |
HIGH | HG02602.hp2 | a0012 | a0012c0013 | a0012c0013t0011 | a0012c0013t0011g0001 | 1 | 385 | 0.0026 | -6466 | c.134 others(9): Show |
p.Arg others(4): Show |
FFAR3 | ENSG00000185897.7 | transcript | ENST00000327809.5 | protein_coding | 2/2 | 335/1800 | 134/1041 | 45/346 | chr19 | TogoVar | |||
| SRGAP1_chr12_63839700_64167217 | 64005628 | AGAGCAAG others(6449): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0005 | a0003c0005t0134 | a0003c0005t0134g0162 | 1 | 168 | 0.0060 | -6456 | c.427 others(18): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| DNAH12_chr3_57288700_57549344 | 57485474 | TACACCAC others(6439): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG02257.hp1 | a0042 | a0042c0040 | a0042c0040t0001 | a0042c0040t0001g0014 | 1 | 264 | 0.0038 | -6446 | c.133 others(19): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 12/74 | chr3 | TogoVar | |||||||
| ZNF700_chr19_11920107_11955763 | 11928689 | GCCACTGC others(6437): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02486.hp2 others(17): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0006others(1): Show | a0001c0001t0001a0003c0003t0002a0004c0006t0001others(1): Show | a0001c0001t0001g0048 a0003c0003t0002g0006 a0003c0003t0002g0174 others(9): Show |
20 | 348 | 0.0575 | -6444 | c.63+ others(15): Show |
ZNF700 | ENSG00000196757.8 | transcript | ENST00000254321.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| ZNF700_chr19_11920107_11955763 | 11928732 | AAAAAAAA others(6436): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01981.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0004 | a0003c0003t0002g0006 a0003c0003t0004g0031 a0003c0003t0004g0065 others(1): Show |
6 | 348 | 0.0172 | -6443 | c.63+ others(15): Show |
ZNF700 | ENSG00000196757.8 | transcript | ENST00000254321.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
| PCDH9_chr13_66297834_67235336 | 66319387 | GGCAGATG others(6427): Show |
G | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0058 | 1 | 80 | 0.0125 | -6434 | c.334 others(21): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 4/4 | chr13 | TogoVar | |||||||
| PELI2_chr14_56113411_56306524 | 56279847 | CAGATCTT others(6411): Show |
C | intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 366 | 0.0027 | -6418 | c.309 others(15): Show |
PELI2 | ENSG00000139946.11 | transcript | ENST00000267460.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| EXO5_chr1_40503767_40521038 | 40510988 | CACTTTGG others(6405): Show |
C | exon_loss_variant others(1): Show |
HIGH | HG02074.hp1 | a0002 | a0002c0000 | a0002c0000t0006 | a0002c0000t0006g0012 | 1 | 404 | 0.0025 | -6412 | c.-31 others(14): Show |
EXO5 | ENSG00000164002.12 | transcript | ENST00000415550.6 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
| EPPK1_chr8_143852324_143883467 | 143859204 | CGCTCACG others(6404): Show |
C | conservative_inframe_deletion | MODERATE | HG01081.hp1 HG02071.hp1 |
a0009a0020 | a0009c0037a0020c0104 | a0009c0037t0002a0020c0104t0002 | a0009c0037t0002g0208 a0020c0104t0002g0298 |
2 | 414 | 0.0048 | -6411 | c.763 others(10): Show |
p.Arg others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 14124/16005 | 7639/15267 | 2547/5088 | chr8 | TogoVar | |||
| ZNF846_chr19_9750357_9773738 | 9752902 | TATAACAA others(6398): Show |
T | exon_loss_variant others(5): Show |
HIGH | HG01952.hp2 HG02055.hp1 HG02451.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0012 a0002c0002t0004g0098 a0002c0002t0004g0099 others(1): Show |
7 | 370 | 0.0189 | -6405 | c.313 others(13): Show |
ZNF846 | ENSG00000196605.7 | transcript | ENST00000397902.7 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
| PARD3_chr10_34104561_34820296 | 34227940 | CTACCATA others(6396): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0063 | 1 | 98 | 0.0102 | -6403 | c.341 others(21): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 22/24 | chr10 | TogoVar | |||||||
| EPPK1_chr8_143852324_143883467 | 143858159 | CGGTAGGC others(6389): Show |
C | disruptive_inframe_deletion | MODERATE | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 419 | 0.0024 | -6396 | c.869 others(10): Show |
p.Gln others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 15169/16005 | 8699/15267 | 2900/5088 | chr8 | TogoVar | |||
| C4A_chr6_31977057_32007681 | 31984683 | GCACAGAC others(6360): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG01952.hp1 HG01975.hp1 others(1): Show |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0024 a0005c0008t0001g0080 |
4 | 322 | 0.0124 | -6367 | c.104 others(17): Show |
C4A | ENSG00000244731.10 | transcript | ENST00000428956.7 | protein_coding | 9/40 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| C4B_chr6_32009795_32040418 | 32017421 | GCACAGAC others(6360): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(198): Show |
a0001a0003a0004others(17): Show | a0001c0003a0001c0004a0001c0008others(23): Show | a0001c0003t0001a0001c0004t0001a0001c0008t0001others(24): Show | a0001c0003t0001g0002 a0001c0003t0001g0005 a0001c0003t0001g0028 others(72): Show |
201 | 334 | 0.6018 | -6367 | c.104 others(17): Show |
C4B | ENSG00000224389.9 | transcript | ENST00000435363.7 | protein_coding | 9/40 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| NBPF8_chr1_120410035_120474676 | 120441739 | GGCAGGCA others(6359): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0006 | a0003c0006t0005 | a0003c0006t0005g0113 | 1 | 290 | 0.0034 | -6366 | c.778 others(16): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| OR9Q1_chr11_58018881_58186616 | 58083587 | TTTAAGGT others(6358): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG03098.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0029 | a0001c0001t0013g0273 a0001c0001t0013g0277 a0001c0001t0013g0279 others(1): Show |
4 | 322 | 0.0124 | -6365 | c.-15 others(19): Show |
OR9Q1 | ENSG00000186509.4 | transcript | ENST00000335397.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| TMEM35A_chrX_101073879_101101367 | 101087229 | GACAGGCG others(6351): Show |
G | intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 320 | 0.0031 | -6358 | c.121 others(16): Show |
TMEM35A | ENSG00000126950.8 | transcript | ENST00000372930.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| ATP6V0E1_chr5_172978771_173040445 | 173031700 | TCCCAGCT others(6347): Show |
T | splice_acceptor_variant others(4): Show |
HIGH | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073 | 1 | 292 | 0.0034 | -6354 | c.*37 others(14): Show |
ATP6V0E1 | ENSG00000113732.9 | transcript | ENST00000519374.6 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
| NBPF8_chr1_120410035_120474676 | 120436615 | CAAACAGC others(6346): Show |
C | exon_loss_variant | HIGH | HG00280.hp2 HG00408.hp2 HG00609.hp1 others(72): Show |
a0001 | a0001c0002a0001c0009a0001c0013others(7): Show | a0001c0002t0001a0001c0002t0009a0001c0002t0010others(21): Show | a0001c0002t0001g0006 a0001c0002t0001g0119 a0001c0002t0001g0121 others(71): Show |
75 | 290 | 0.2586 | -6353 | c.122 others(12): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 5/23 | 1094/7256 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| NBPF8_chr1_120410035_120474676 | 120436644 | GATGTTTT others(6346): Show |
G | exon_loss_variant | HIGH | HG02071.hp2 | a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0265 | 1 | 289 | 0.0035 | -6353 | c.493 others(16): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NBPF8_chr1_120410035_120474676 | 120442018 | CAAAAAAA others(6346): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp1 others(38): Show |
a0003a0006a0007others(2): Show | a0003c0005a0006c0007a0007c0008others(2): Show | a0003c0005t0004a0003c0005t0011a0003c0005t0024others(8): Show | a0003c0005t0004g0008 a0003c0005t0004g0009 a0003c0005t0004g0131 others(36): Show |
41 | 239 | 0.1715 | -6353 | c.778 others(15): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NBPF8_chr1_120410035_120474676 | 120442502 | CAAAAAAG others(6346): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02451.hp1 others(6): Show |
a0008a0014 | a0008c0010a0014c0032 | a0008c0010t0020a0008c0010t0057a0008c0010t0058others(4): Show | a0008c0010t0020g0077 a0008c0010t0020g0080 a0008c0010t0020g0081 others(6): Show |
9 | 290 | 0.0310 | -6353 | c.778 others(16): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NBPF8_chr1_120410035_120474676 | 120442949 | ACCCCCAG others(6346): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | NA20905.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0040 | 1 | 290 | 0.0034 | -6353 | c.778 others(12): Show |
p.Val others(19): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 9/23 | 779/2829 | 260/942 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||
| NBPF8_chr1_120410035_120474676 | 120441370 | CCAACCAG others(6345): Show |
C | frameshift_variant others(3): Show |
HIGH | HG00544.hp2 HG00642.hp2 HG01069.hp1 others(67): Show |
a0002a0003a0004others(6): Show | a0002c0001a0003c0006a0004c0003others(6): Show | a0002c0001t0053a0002c0001t0054a0003c0006t0005others(20): Show | a0002c0001t0053g0068 a0002c0001t0054g0065 a0003c0006t0005g0004 others(64): Show |
70 | 290 | 0.2414 | -6352 | c.778 others(12): Show |
p.Val others(5): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 9/23 | 779/2829 | 260/942 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||
| NBPF8_chr1_120410035_120474676 | 120442020 | AAAAAAAA others(6343): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(22): Show |
a0002a0009a0013 | a0002c0001a0002c0031a0009c0011others(1): Show | a0002c0001t0002a0002c0001t0008a0002c0001t0029others(6): Show | a0002c0001t0002g0018 a0002c0001t0002g0019 a0002c0001t0002g0026 others(22): Show |
25 | 290 | 0.0862 | -6350 | c.778 others(15): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NBPF8_chr1_120410035_120474676 | 120442021 | AAAAAAAA others(6342): Show |
A | intron_variant | MODIFIER | HG01361.hp1 | a0002 | a0002c0001 | a0002c0001t0029 | a0002c0001t0029g0017 | 1 | 290 | 0.0034 | -6349 | c.778 others(15): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| GCH1_chr14_54837017_54907826 | 54853171 | TCAGGCTG others(6317): Show |
T | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 344 | 0.0029 | -6324 | c.509 others(16): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | TogoVar | |||||||
| ZFP14_chr19_36329453_36384201 | 36349849 | AATAAAAA others(6314): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(69): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0010others(7): Show | a0001c0001t0003g0001 a0001c0001t0003g0011 a0001c0001t0003g0012 others(44): Show |
72 | 366 | 0.1967 | -6321 | c.235 others(17): Show |
ZFP14 | ENSG00000142065.14 | transcript | ENST00000270001.12 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1398755 | TGAGTCGT others(6310): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0033 | 1 | 32 | 0.0313 | -6317 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| RIMS2_chr8_103495610_104259430 | 103894153 | TAACTATT others(6309): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG03471.hp2 others(4): Show |
a0001a0007 | a0001c0001a0007c0018 | a0001c0001t0003a0001c0001t0006a0007c0018t0003 | a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 others(4): Show |
7 | 170 | 0.0412 | -6316 | c.175 others(19): Show |
RIMS2 | ENSG00000176406.25 | transcript | ENST00000696799.1 | protein_coding | 7/29 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| SMN2_chr5_70044669_70082595 | 70072861 | GCCTGTAA others(6303): Show |
G | exon_loss_variant | HIGH | HG01074.hp1 HG01175.hp1 HG01192.hp2 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0010 a0002c0004t0002g0078 |
3 | 108 | 0.0278 | -6310 | c.834 others(14): Show |
SMN2 | ENSG00000205571.15 | transcript | ENST00000380743.9 | protein_coding | 8/9 | chr5 | TogoVar | |||||||
| CACNA2D1_chr7_81941444_82448777 | 82048225 | ATCTGGAA others(6299): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0063 | 1 | 142 | 0.0070 | -6306 | c.879 others(17): Show |
CACNA2D1 | ENSG00000153956.17 | transcript | ENST00000356860.8 | protein_coding | 10/38 | chr7 | TogoVar | |||||||
| PDE1A_chr2_182135041_182432036 | 182190482 | CACAGCCT others(6299): Show |
C | intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0181 | 1 | 262 | 0.0038 | -6306 | c.112 others(19): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 10/14 | chr2 | TogoVar | |||||||
| CSMD3_chr8_112217928_113441939 | 113028236 | TGTCACAA others(6295): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0015 | a0015c0035 | a0015c0035t0001 | a0015c0035t0001g0003 | 1 | 78 | 0.0128 | -6302 | c.918 others(18): Show |
CSMD3 | ENSG00000164796.18 | transcript | ENST00000297405.10 | protein_coding | 5/70 | chr8 | TogoVar | |||||||
| NBPF10_chr1_146059711_146149804 | 146136989 | CATAAGGC others(6289): Show |
C | exon_loss_variant | HIGH | HG00140.hp2 HG00558.hp2 HG00597.hp2 others(58): Show |
a0001a0004a0031others(2): Show | a0001c0005a0001c0008a0001c0016others(35): Show | a0001c0005t0003a0001c0008t0003a0001c0016t0003others(36): Show | a0001c0005t0003g0160 a0001c0005t0003g0165 a0001c0005t0003g0172 others(57): Show |
61 | 282 | 0.2163 | -6296 | c.176 others(15): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 6/90 | chr1 | TogoVar | |||||||
| CLEC18B_chr16_74403631_74426478 | 74416618 | GCCACCTT others(6286): Show |
G | exon_loss_variant | HIGH | HG00597.hp1 | a0005 | a0005c0012 | a0005c0012t0006 | a0005c0012t0006g0036 | 1 | 286 | 0.0035 | -6293 | c.-16 others(14): Show |
CLEC18B | ENSG00000140839.13 | transcript | ENST00000682950.1 | protein_coding | 3/12 | chr16 | TogoVar | |||||||
| NBPF12_chr1_146933324_147001198 | 146968574 | GCAGGGGG others(6284): Show |
G | exon_loss_variant | HIGH | NA18906.hp2 | a0024 | a0024c0019 | a0024c0019t0023 | a0024c0019t0023g0029 | 1 | 120 | 0.0083 | -6291 | c.109 others(15): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NBPF12_chr1_146933324_147001198 | 146963870 | CACTGGAG others(6283): Show |
C | exon_loss_variant | HIGH | HG02258.hp2 HG03098.hp2 |
a0010 | a0010c0012 | a0010c0012t0004 | a0010c0012t0004g0060 a0010c0012t0004g0063 |
2 | 117 | 0.0171 | -6290 | c.494 others(16): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| IL3RA_chrX_1331785_1387689 | 1370001 | TAAGCCGC others(6282): Show |
T | intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 1 | 113 | 0.0088 | -6289 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| NBPF12_chr1_146933324_147001198 | 146970102 | GGTGTGGT others(6282): Show |
G | exon_loss_variant | HIGH | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
a0007 | a0007c0008 | a0007c0008t0012a0007c0008t0015 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 |
3 | 120 | 0.0250 | -6289 | c.130 others(17): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 15/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| KIF26B_chr1_245149985_245714432 | 245275076 | ACCAGTGA others(6268): Show |
A | intron_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 160 | 0.0063 | -6275 | c.466 others(19): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| ZFPM2_chr8_105313438_105809539 | 105665879 | ATGATAAA others(6264): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0004 | a0003c0004t0011 | a0003c0004t0011g0090 | 1 | 90 | 0.0111 | -6271 | c.532 others(19): Show |
ZFPM2 | ENSG00000169946.14 | transcript | ENST00000407775.7 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| HBZ_chr16_147644_159503 | 153236 | GTTCCCTC others(6260): Show |
G | exon_loss_variant | HIGH | HG01433.hp2 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0041 | 1 | 393 | 0.0025 | -6267 | c.95+ others(12): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/3 | chr16 | TogoVar | |||||||
| KRT6B_chr12_52441651_52457146 | 52450881 | TTTCTTTT others(6258): Show |
T | exon_loss_variant others(1): Show |
HIGH | HG04199.hp1 | a0008 | a0008c0019 | a0008c0019t0005 | a0008c0019t0005g0018 | 1 | 432 | 0.0023 | -6265 | c.-50 others(13): Show |
KRT6B | ENSG00000185479.6 | transcript | ENST00000252252.4 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
| RNF11_chr1_51231273_51278447 | 51248373 | ATTTTGTA others(6250): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 | 2 | 272 | 0.0074 | -6257 | c.123 others(19): Show |
RNF11 | ENSG00000123091.5 | transcript | ENST00000242719.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| XIRP2_chr2_166883480_167264753 | 166988442 | GAAAACTT others(6249): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp2 others(42): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0010others(13): Show | a0001c0001t0001a0001c0003t0004a0001c0010t0001others(14): Show | a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0058 others(42): Show |
45 | 190 | 0.2368 | -6256 | c.408 others(19): Show |
XIRP2 | ENSG00000163092.22 | transcript | ENST00000409195.6 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |