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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NIM1K_chr5_43187225_43285850 | 43238210 | TTTTTTGT others(4751): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02615.hp1 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0002 | a0001c0001t0001g0063 a0001c0001t0002g0260 a0001c0001t0002g0261 others(6): Show |
9 | 290 | 0.0310 | -4758 | c.-69 others(19): Show |
NIM1K | ENSG00000177453.7 | transcript | ENST00000326035.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
TNFSF13B_chr13_108264718_108313478 | 108294702 | GATATCAG others(4751): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00735.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0034 others(26): Show |
29 | 382 | 0.0759 | -4758 | c.481 others(17): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 3/5 | chr13 | TogoVar | |||||||
ANO6_chr12_45211095_45437349 | 45377477 | ATAGAAGC others(4750): Show |
A | exon_loss_variant others(4): Show |
HIGH | NA18994.hp1 | a0011 | a0011c0013 | a0011c0013t0003 | a0011c0013t0003g0163 | 1 | 232 | 0.0043 | -4757 | c.110 others(18): Show |
ANO6 | ENSG00000177119.17 | transcript | ENST00000320560.13 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DAZ4_chrY_24828919_24912040 | 24871384 | CTTTTGTC others(4750): Show |
C | exon_loss_variant | HIGH | HG01074.hp2 HG03471.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 a0002c0002t0001g0028 |
2 | 40 | 0.0500 | -4757 | c.149 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149492561 | CTCTCTCT others(4750): Show |
C | exon_loss_variant | HIGH | HG02647.hp2 NA19043.hp2 |
a0038a0049 | a0038c0036a0049c0033 | a0038c0036t0001a0049c0033t0001 | a0038c0036t0001g0126 a0049c0033t0001g0132 |
2 | 274 | 0.0073 | -4757 | c.177 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 16/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79759196 | CAGAACTT others(4750): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0003 | 1 | 24 | 0.0417 | -4757 | c.401 others(21): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DAZ3_chrY_24758069_24818393 | 24782239 | TAGATGTT others(4749): Show |
T | exon_loss_variant | HIGH | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 43 | 0.0233 | -4756 | c.100 others(18): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 15/19 | chrY | TogoVar | |||||||
DAZ3_chrY_24758069_24818393 | 24788154 | AAAAAAAA others(4749): Show |
A | exon_loss_variant | HIGH | HG01106.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0018 |
2 | 44 | 0.0455 | -4756 | c.858 others(16): Show |
DAZ3 | ENSG00000187191.16 | transcript | ENST00000382365.7 | protein_coding | 13/19 | chrY | TogoVar | |||||||
DAZ4_chrY_24828919_24912040 | 24871328 | CTTCTGGG others(4749): Show |
C | exon_loss_variant | HIGH | HG01106.hp1 HG02055.hp1 HG02258.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 others(5): Show |
8 | 40 | 0.2000 | -4756 | c.149 others(18): Show |
DAZ4 | ENSG00000205916.12 | transcript | ENST00000682740.1 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1398928 | CCTCGTCC others(4749): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01496.hp2 HG02074.hp1 others(2): Show |
a0001a0002a0003 | a0001c0003a0001c0010a0002c0001others(1): Show | a0001c0003t0001a0001c0010t0025a0002c0001t0020others(2): Show | a0001c0003t0001g0027 a0001c0010t0025g0012 a0002c0001t0020g0024 others(2): Show |
5 | 40 | 0.1250 | -4756 | c.107 others(20): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | |||||||
GLT1D1_chr12_128848478_128989968 | 128963610 | CACTCCAG others(4747): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 318 | 0.0031 | -4754 | c.879 others(18): Show |
GLT1D1 | ENSG00000151948.12 | transcript | ENST00000442111.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149513834 | AGATTTCC others(4747): Show |
A | exon_loss_variant | HIGH | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0084 | 1 | 262 | 0.0038 | -4754 | c.513 others(9): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 44/94 | 5921/13941 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
USP17L7_chr8_12127417_12139099 | 12130647 | TATTTCCA others(4747): Show |
T | transcript_ablation | HIGH | HG04115.hp2 | a0006 | a0006c0000 | a0006c0000t0000 | a0006c0000t0000g0000 | 1 | 190 | 0.0053 | -4754 | c.-13 others(11): Show |
p.0? | USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149537774 | ACCAGAAT others(4746): Show |
A | exon_loss_variant | HIGH | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0212 | 1 | 264 | 0.0038 | -4753 | c.881 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 74/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1L_chr1_207640133_207728703 | 207667717 | CAGAGTGA others(4745): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02257.hp1 others(9): Show |
a0002a0006a0018others(4): Show | a0002c0002a0006c0006a0018c0022others(4): Show | a0002c0002t0001a0006c0006t0001a0018c0022t0001others(4): Show | a0002c0002t0001g0003 a0002c0002t0001g0264 a0002c0002t0001g0267 others(7): Show |
12 | 344 | 0.0349 | -4752 | c.98- others(15): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149514741 | ATCTGTCT others(4745): Show |
A | exon_loss_variant | HIGH | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 273 | 0.0037 | -4752 | c.532 others(15): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 45/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYT14_chr1_209933217_210176315 | 210111289 | TGTCACAA others(4745): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02886.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0031a0001c0001t0040others(2): Show | a0001c0001t0013g0309 a0001c0001t0013g0310 a0001c0001t0013g0311 others(4): Show |
7 | 356 | 0.0197 | -4752 | c.116 others(21): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149521269 | CGGTTTCT others(4744): Show |
C | exon_loss_variant | HIGH | HG01168.hp1 HG01496.hp2 NA18982.hp1 others(2): Show |
a0001a0002a0044 | a0001c0001a0002c0002a0044c0032 | a0001c0001t0001a0002c0002t0002a0044c0032t0002 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0045 others(2): Show |
5 | 234 | 0.0214 | -4751 | c.633 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 53/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
USP17L7_chr8_12127417_12139099 | 12132532 | TTCGTCGA others(4744): Show |
T | frameshift_variant others(1): Show |
HIGH | NA18981.hp2 | a0007 | a0007c0006 | a0007c0006t0003 | a0007c0006t0003g0000 | 1 | 192 | 0.0052 | -4751 | c.-32 others(10): Show |
p.Met others(3): Show |
USP17L7 | ENSG00000226430.7 | transcript | ENST00000530447.5 | protein_coding | 1/1 | 1567/1683 | 1/1593 | 1/530 | chr8 | TogoVar | |||
RC3H1_chr1_173926084_174027357 | 173994208 | ATGGTGAA others(4743): Show |
A | intron_variant | MODIFIER | HG02965.hp2 HG03041.hp2 |
a0001 | a0001c0007 | a0001c0007t0026 | a0001c0007t0026g0079 a0001c0007t0026g0080 |
2 | 308 | 0.0065 | -4750 | c.-15 others(19): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
DNAAF4_chr15_55425308_55513234 | 55455535 | GATTCTCC others(4741): Show |
G | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 336 | 0.0030 | -4748 | c.637 others(17): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 5/9 | chr15 | TogoVar | |||||||
ZNF675_chr19_23647801_23692212 | 23673828 | TAAAGTAT others(4741): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02630.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0182 a0001c0001t0001g0183 |
4 | 374 | 0.0107 | -4748 | c.3+8 others(14): Show |
ZNF675 | ENSG00000197372.10 | transcript | ENST00000359788.9 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
NBPF19_chr1_149470045_149561361 | 149524200 | CTGTGTGT others(4740): Show |
C | exon_loss_variant | HIGH | HG02622.hp1 | a0036 | a0036c0043 | a0036c0043t0022 | a0036c0043t0022g0035 | 1 | 96 | 0.0104 | -4747 | c.661 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 56/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF14_chr1_148526385_148601011 | 148557087 | CAGAGAGA others(4736): Show |
C | exon_loss_variant | HIGH | HG04228.hp2 | a0095 | a0095c0082 | a0095c0082t0001 | a0095c0082t0001g0057 | 1 | 203 | 0.0049 | -4743 | c.427 others(17): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 40/71 | chr1 | TogoVar | |||||||
HOPX_chr4_56642998_56686296 | 56673800 | GTTCAAGC others(4734): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02965.hp1 HG03130.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0141 a0001c0001t0001g0142 |
5 | 374 | 0.0134 | -4741 | c.-84 others(17): Show |
HOPX | ENSG00000171476.23 | transcript | ENST00000420433.6 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
USP17L2_chr8_12131435_12143849 | 12135283 | ATAGCATA others(4731): Show |
A | transcript_ablation | HIGH | HG02109.hp1 HG02145.hp2 HG02717.hp2 others(13): Show |
a0002 | a0002c0000 | a0002c0000t0000 | a0002c0000t0000g0000 | 16 | 194 | 0.0825 | -4738 | c.-12 others(11): Show |
p.0? | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149538593 | CTATGCTA others(4730): Show |
C | exon_loss_variant | HIGH | HG01952.hp2 | a0005 | a0005c0005 | a0005c0005t0016 | a0005c0005t0016g0208 | 1 | 222 | 0.0045 | -4737 | c.909 others(15): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 76/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149544596 | ACGTACCA others(4730): Show |
A | exon_loss_variant | HIGH | HG00609.hp2 HG00738.hp2 HG01069.hp1 others(34): Show |
a0001a0023a0028 | a0001c0001a0023c0024a0028c0039 | a0001c0001t0001a0001c0001t0008a0001c0001t0025others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(30): Show |
37 | 256 | 0.1445 | -4737 | c.999 others(16): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 83/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149545859 | CTAGACAG others(4730): Show |
T | exon_loss_variant | HIGH | HG02965.hp1 | a0040 | a0040c0038 | a0040c0038t0001 | a0040c0038t0001g0055 | 1 | 55 | 0.0182 | -4737 | c.999 others(16): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 83/94 | chr1 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3928491 | TGGAACAG others(4727): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01255.hp2 HG02074.hp1 others(7): Show |
a0001a0002a0027 | a0001c0001a0001c0003a0001c0049others(6): Show | a0001c0001t0002a0001c0003t0008a0001c0003t0011others(7): Show | a0001c0001t0002g0102 a0001c0003t0008g0053 a0001c0003t0011g0026 others(7): Show |
10 | 126 | 0.0794 | -4734 | c.818 others(19): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146114059 | CACACAGA others(4727): Show |
C | exon_loss_variant | HIGH | NA18994.hp2 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0177 | 1 | 274 | 0.0036 | -4734 | c.303 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 29/90 | chr1 | TogoVar | |||||||
NBPF19_chr1_149470045_149561361 | 149538465 | GTGTGTGT others(4726): Show |
G | exon_loss_variant | HIGH | HG01516.hp1 | a0007 | a0007c0009 | a0007c0009t0005 | a0007c0009t0005g0192 | 1 | 272 | 0.0037 | -4733 | c.881 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 74/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146071516 | GACACACA others(4725): Show |
G | exon_loss_variant | HIGH | HG03688.hp2 | a0005 | a0005c0003 | a0005c0003t0014 | a0005c0003t0014g0216 | 1 | 237 | 0.0042 | -4732 | c.962 others(18): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 83/90 | chr1 | TogoVar | |||||||
PDE6B_chr4_620573_675782 | 643743 | TTAGGCTT others(4725): Show |
T | intron_variant | MODIFIER | HG02630.hp2 NA19240.hp1 |
a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0251 a0005c0011t0001g0252 |
2 | 306 | 0.0065 | -4732 | c.711 others(17): Show |
PDE6B | ENSG00000133256.13 | transcript | ENST00000496514.6 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149524214 | GTGTGTGT others(4724): Show |
G | exon_loss_variant | HIGH | HG02738.hp1 NA18747.hp2 |
a0002a0039 | a0002c0002a0039c0035 | a0002c0002t0002a0039c0035t0011 | a0002c0002t0002g0215 a0039c0035t0011g0088 |
2 | 274 | 0.0073 | -4731 | c.661 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 56/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149538467 | GTGTGTGT others(4724): Show |
G | exon_loss_variant | HIGH | HG00735.hp2 | a0007 | a0007c0009 | a0007c0009t0005 | a0007c0009t0005g0193 | 1 | 274 | 0.0036 | -4731 | c.881 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 74/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146071516 | GACACACA others(4723): Show |
G | exon_loss_variant | HIGH | HG01243.hp1 | a0005 | a0005c0003 | a0005c0003t0013 | a0005c0003t0013g0246 | 1 | 237 | 0.0042 | -4730 | c.962 others(18): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 83/90 | chr1 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146078508 | ATCCCAAT others(4723): Show |
A | exon_loss_variant | HIGH | NA19085.hp1 | a0107 | a0107c0142 | a0107c0142t0004 | a0107c0142t0004g0238 | 1 | 264 | 0.0038 | -4730 | c.861 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 74/90 | chr1 | TogoVar | |||||||
USP17L2_chr8_12131435_12143849 | 12135448 | GTGCAAAA others(4723): Show |
G | transcript_ablation | HIGH | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 193 | 0.0052 | -4730 | c.-14 others(11): Show |
p.0? | USP17L2 | ENSG00000223443.3 | transcript | ENST00000333796.4 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149524216 | GTGTGTGT others(4722): Show |
G | exon_loss_variant | HIGH | HG02965.hp1 NA18954.hp2 NA18962.hp2 others(1): Show |
a0015a0024a0040others(1): Show | a0015c0010a0024c0019a0040c0038others(1): Show | a0015c0010t0002a0024c0019t0002a0040c0038t0001others(1): Show | a0015c0010t0002g0022 a0024c0019t0002g0224 a0040c0038t0001g0055 others(1): Show |
4 | 273 | 0.0147 | -4729 | c.678 others(15): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 57/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DLGAP1_chr18_3491032_4460307 | 3765969 | ATAAAAAA others(4721): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0003 | a0001c0003t0035 | a0001c0003t0035g0074 | 1 | 80 | 0.0125 | -4728 | c.117 others(21): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 5/12 | chr18 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146068386 | AGAGGAGA others(4721): Show |
A | exon_loss_variant | HIGH | HG02040.hp2 | a0057 | a0057c0045 | a0057c0045t0019 | a0057c0045t0019g0034 | 1 | 282 | 0.0035 | -4728 | c.101 others(19): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 87/90 | chr1 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146071516 | GACACACA others(4721): Show |
G | exon_loss_variant | HIGH | HG03669.hp2 | a0005 | a0005c0003 | a0005c0003t0004 | a0005c0003t0004g0215 | 1 | 237 | 0.0042 | -4728 | c.962 others(18): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 83/90 | chr1 | TogoVar | |||||||
USP17L1_chr8_7327387_7338979 | 7332253 | TTGGTGGG others(4721): Show |
T | transcript_ablation | HIGH | HG00408.hp2 HG00741.hp1 HG02451.hp2 others(13): Show |
a0003 | a0003c0000 | a0003c0000t0000 | a0003c0000t0000g0000 | 16 | 375 | 0.0427 | -4728 | c.-13 others(10): Show |
p.0? | USP17L1 | ENSG00000230549.3 | transcript | ENST00000529559.1 | protein_coding | 1/1 | chr8 | TogoVar | ||||||
USP17L4_chr8_7332115_7343707 | 7332253 | TTGGTGGG others(4721): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00741.hp2 HG02451.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0002c0005others(1): Show | a0001c0001t0001a0002c0004t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0000 a0002c0004t0001g0000 a0002c0005t0001g0000 others(1): Show |
13 | 356 | 0.0365 | -4728 | c.-48 others(10): Show |
USP17L4 | ENSG00000236125.3 | transcript | ENST00000526929.1 | protein_coding | 4861 | chr8 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146081897 | CCCTTGAG others(4720): Show |
C | exon_loss_variant | HIGH | HG00558.hp1 | a0036 | a0036c0137 | a0036c0137t0004 | a0036c0137t0004g0229 | 1 | 282 | 0.0035 | -4727 | c.810 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 70/90 | chr1 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146116784 | CAGCGAAG others(4719): Show |
C | exon_loss_variant | HIGH | HG06807.hp2 NA19043.hp1 |
a0027 | a0027c0038 | a0027c0038t0007 | a0027c0038t0007g0255 a0027c0038t0007g0257 |
2 | 280 | 0.0071 | -4726 | c.274 others(9): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 25/90 | 3512/13030 | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146083064 | ACACACAT others(4718): Show |
A | exon_loss_variant | HIGH | HG00544.hp1 | a0035 | a0035c0136 | a0035c0136t0004 | a0035c0136t0004g0252 | 1 | 282 | 0.0035 | -4725 | c.788 others(15): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 68/90 | chr1 | TogoVar | |||||||
NBPF19_chr1_149470045_149561361 | 149524220 | GTGTGTGT others(4718): Show |
G | exon_loss_variant | HIGH | NA18963.hp2 | a0015 | a0015c0010 | a0015c0010t0002 | a0015c0010t0002g0227 | 1 | 274 | 0.0036 | -4725 | c.661 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 56/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF10_chr1_146059711_146149804 | 146114021 | GACACACA others(4717): Show |
G | exon_loss_variant | HIGH | HG00597.hp2 | a0001 | a0001c0112 | a0001c0112t0003 | a0001c0112t0003g0190 | 1 | 156 | 0.0064 | -4724 | c.303 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 29/90 | chr1 | TogoVar |