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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NSD2_chr4_1866393_1987192 | 1985482 | TCCCACCA others(49): Show |
T | downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 128 | 0.0078 | -56 | c.*65 others(67): Show |
NSD2 | ENSG00000109685.19 | transcript | ENST00000508803.6 | protein_coding | 3291 | chr4 | TogoVar | |||||||
NSMCE1_chr16_27219994_27273772 | 27228495 | GCCTCCCC others(49): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 2 | 332 | 0.0060 | -56 | c.484 others(73): Show |
NSMCE1 | ENSG00000169189.17 | transcript | ENST00000361439.9 | protein_coding | 5/7 | chr16 | TogoVar | |||||||
NSMF_chr9_137442570_137464334 | 137451338 | CCCTCGTC others(49): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG02145.hp1 HG02698.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0020 | a0001c0001t0001g0034 a0001c0001t0001g0058 a0001c0001t0001g0081 others(4): Show |
8 | 412 | 0.0194 | -56 | c.123 others(74): Show |
NSMF | ENSG00000165802.23 | transcript | ENST00000371475.9 | protein_coding | 12/15 | chr9 | TogoVar | |||||||
NUDT19_chr19_32686821_32718792 | 32712369 | ACCCAGCC others(49): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG02630.hp1 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0132 a0001c0001t0009g0133 a0001c0001t0009g0134 |
3 | 404 | 0.0074 | -56 | c.*41 others(65): Show |
NUDT19 | ENSG00000213965.4 | transcript | ENST00000397061.4 | protein_coding | 3/3 | 418 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NUMB_chr14_73270216_73463546 | 73352453 | CACACATA others(49): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0256 | 1 | 300 | 0.0033 | -56 | c.126 others(73): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | |||||||
NUMB_chr14_73270216_73463546 | 73352455 | CACATACA others(49): Show |
C | intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0054 | 1 | 283 | 0.0035 | -56 | c.126 others(73): Show |
NUMB | ENSG00000133961.21 | transcript | ENST00000555238.6 | protein_coding | 4/12 | chr14 | TogoVar | |||||||
NXNL1_chr19_17450425_17465926 | 17463909 | GAGAAGAA others(49): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 a0001c0001t0002g0075 |
2 | 382 | 0.0052 | -56 | c.-30 others(67): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2984 | chr19 | TogoVar | |||||||
NXN_chr17_794310_984776 | 948826 | GGCCTCCT others(49): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0003a0001c0008t0013 | a0001c0001t0003g0137 a0001c0008t0013g0200 |
2 | 223 | 0.0090 | -56 | c.360 others(75): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
OCA2_chr15_27749875_28104315 | 28054020 | GTATATAT others(49): Show |
G | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0002 | 1 | 108 | 0.0093 | -56 | c.228 others(75): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 2/23 | chr15 | TogoVar | |||||||
ODAD3_chr19_11415605_11440121 | 11425093 | GTGTATAT others(49): Show |
G | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 391 | 0.0026 | -56 | c.963 others(72): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 7/12 | chr19 | TogoVar | |||||||
OPTN_chr10_13095163_13143308 | 13115452 | CTATATTA others(49): Show |
C | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0064 | 1 | 407 | 0.0025 | -56 | c.553 others(71): Show |
OPTN | ENSG00000123240.17 | transcript | ENST00000378747.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OR2B6_chr6_27952241_27963182 | 27955772 | ACTGTAGA others(49): Show |
A | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 416 | 0.0024 | -56 | c.-14 others(67): Show |
OR2B6 | ENSG00000124657.1 | transcript | ENST00000244623.1 | protein_coding | 1468 | chr6 | TogoVar | |||||||
OR2M3_chr1_248192265_248217925 | 248213490 | TATATGTA others(49): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(84): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0030a0001c0002t0002others(10): Show | a0001c0001t0004g0004 a0001c0001t0004g0017 a0001c0001t0030g0001 others(15): Show |
87 | 408 | 0.2132 | -56 | c.*94 others(67): Show |
OR2M3 | ENSG00000228198.3 | transcript | ENST00000641626.1 | protein_coding | 566 | chr1 | TogoVar | |||||||
OR2T34_chr1_248568801_248579757 | 248578977 | TATATATA others(49): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp1 HG03139.hp2 HG03209.hp2 others(1): Show |
a0005a0010 | a0005c0007a0010c0012a0010c0013 | a0005c0007t0001a0010c0012t0001a0010c0013t0001 | a0005c0007t0001g0000 a0010c0012t0001g0000 a0010c0013t0001g0000 |
4 | 312 | 0.0128 | -56 | c.-42 others(67): Show |
OR2T34 | ENSG00000183310.3 | transcript | ENST00000328782.3 | protein_coding | 4221 | chr1 | TogoVar | |||||||
OR2V2_chr5_181142586_181164285 | 181164229 | ATCTTATG others(49): Show |
A | downstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0014 | 1 | 338 | 0.0030 | -56 | c.*83 others(67): Show |
OR2V2 | ENSG00000182613.3 | transcript | ENST00000641492.1 | protein_coding | 4945 | chr5 | TogoVar | |||||||
OR4F5_chr1_60419_76585 | 66221 | ATATATTA others(49): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0024 | 1 | 198 | 0.0051 | -56 | c.9+6 others(67): Show |
OR4F5 | ENSG00000186092.7 | transcript | ENST00000641515.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR6B3_chr2_240039571_240058521 | 240042075 | CGAAGGGC others(49): Show |
C | downstream_gene_variant | MODIFIER | HG02976.hp2 HG03669.hp2 NA20300.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0040 a0002c0002t0005g0015 |
3 | 416 | 0.0072 | -56 | c.*29 others(67): Show |
OR6B3 | ENSG00000178586.7 | transcript | ENST00000641019.2 | protein_coding | 2495 | chr2 | TogoVar | |||||||
OR6B3_chr2_240039571_240058521 | 240042187 | GGAAGGGC others(49): Show |
G | downstream_gene_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0093 | 1 | 306 | 0.0033 | -56 | c.*28 others(67): Show |
OR6B3 | ENSG00000178586.7 | transcript | ENST00000641019.2 | protein_coding | 2383 | chr2 | TogoVar | |||||||
OR6B3_chr2_240039571_240058521 | 240042243 | CGAAGGGC others(49): Show |
C | downstream_gene_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0138 | 1 | 438 | 0.0023 | -56 | c.*27 others(67): Show |
OR6B3 | ENSG00000178586.7 | transcript | ENST00000641019.2 | protein_coding | 2327 | chr2 | TogoVar | |||||||
OR6B3_chr2_240039571_240058521 | 240042411 | CGAAGGGC others(49): Show |
C | downstream_gene_variant | MODIFIER | HG02976.hp2 HG03669.hp2 NA20300.hp2 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0040 a0002c0002t0005g0015 |
3 | 431 | 0.0070 | -56 | c.*26 others(67): Show |
OR6B3 | ENSG00000178586.7 | transcript | ENST00000641019.2 | protein_coding | 2159 | chr2 | TogoVar | |||||||
OR6B3_chr2_240039571_240058521 | 240042700 | GTGGGTGA others(49): Show |
G | downstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01069.hp2 others(14): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0004 | a0001c0001t0001g0001 a0001c0001t0001g0087 a0003c0005t0004g0006 others(5): Show |
17 | 441 | 0.0385 | -56 | c.*23 others(67): Show |
OR6B3 | ENSG00000178586.7 | transcript | ENST00000641019.2 | protein_coding | 1870 | chr2 | TogoVar | |||||||
OR6B3_chr2_240039571_240058521 | 240042774 | GTGAAGGG others(49): Show |
G | downstream_gene_variant | MODIFIER | HG01975.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0006 | 1 | 438 | 0.0023 | -56 | c.*22 others(67): Show |
OR6B3 | ENSG00000178586.7 | transcript | ENST00000641019.2 | protein_coding | 1796 | chr2 | TogoVar | |||||||
ORC5_chr7_104121341_104213013 | 104158966 | CGCAATCC others(49): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp1 others(66): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0012 a0001c0001t0001g0048 a0001c0001t0001g0049 others(62): Show |
69 | 364 | 0.1896 | -56 | c.114 others(75): Show |
ORC5 | ENSG00000164815.11 | transcript | ENST00000297431.9 | protein_coding | 12/13 | chr7 | TogoVar | |||||||
OSBPL10_chr3_31655825_31986262 | 31965522 | CTATTATA others(49): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0035 | a0002c0035t0001 | a0002c0035t0001g0057 | 1 | 184 | 0.0054 | -56 | c.281 others(75): Show |
OSBPL10 | ENSG00000144645.16 | transcript | ENST00000396556.7 | protein_coding | 1/11 | chr3 | TogoVar | |||||||
OSGEPL1_chr2_189741660_189767792 | 189742865 | GACACACA others(49): Show |
G | downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 224 | 0.0045 | -56 | c.*42 others(67): Show |
OSGEPL1 | ENSG00000128694.12 | transcript | ENST00000264151.10 | protein_coding | 3794 | chr2 | TogoVar | |||||||
OTOF_chr2_26452203_26483124 | 26472067 | TGCATGCA others(49): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 328 | 0.0030 | -56 | c.156 others(73): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000339598.8 | protein_coding | 13/28 | chr2 | TogoVar | |||||||
OTOF_chr2_26452203_26563756 | 26472067 | TGCATGCA others(49): Show |
T | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 | 1 | 282 | 0.0035 | -56 | c.386 others(73): Show |
OTOF | ENSG00000115155.19 | transcript | ENST00000272371.7 | protein_coding | 30/46 | chr2 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31511062 | TACATATA others(49): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0014 | a0002c0014t0096 | a0002c0014t0096g0095 | 1 | 243 | 0.0041 | -56 | c.894 others(73): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31511365 | TATATATG others(49): Show |
T | intron_variant | MODIFIER | HG02109.hp1 NA18960.hp2 NA18962.hp2 |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0037a0002c0007t0003a0002c0007t0008 | a0001c0001t0037g0081 a0002c0007t0003g0159 a0002c0007t0008g0064 |
3 | 216 | 0.0139 | -56 | c.894 others(73): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
OXSR1_chr3_38160537_38260484 | 38162042 | ATTTCATA others(49): Show |
A | upstream_gene_variant | MODIFIER | HG02717.hp1 HG03471.hp1 HG03516.hp1 |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0017 | a0002c0002t0002g0203 a0002c0002t0002g0207 a0002c0002t0017g0196 |
3 | 242 | 0.0124 | -56 | c.-38 others(67): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 3494 | chr3 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3699877 | GGAAGGAA others(49): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01243.hp2 HG02486.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0253 a0001c0001t0002g0235 a0002c0002t0001g0032 others(3): Show |
6 | 332 | 0.0181 | -56 | c.-39 others(67): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 3723 | chr17 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73017098 | GATCTATA others(49): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01123.hp1 HG02257.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0080 a0001c0001t0003g0108 a0001c0001t0003g0111 others(12): Show |
15 | 165 | 0.0909 | -56 | c.124 others(73): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 10/14 | chr10 | TogoVar | |||||||
PALMD_chr1_99641113_99699535 | 99683080 | GAGAGAGA others(49): Show |
G | intron_variant | MODIFIER | HG02486.hp1 HG03098.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0275 a0001c0002t0001g0312 |
2 | 371 | 0.0054 | -56 | c.252 others(73): Show |
PALMD | ENSG00000099260.12 | transcript | ENST00000263174.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PAQR5_chr15_69293912_69412780 | 69355287 | CTTTTCTT others(49): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02809.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0022others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0250 others(4): Show |
7 | 279 | 0.0251 | -56 | c.-11 others(75): Show |
PAQR5 | ENSG00000137819.14 | transcript | ENST00000395407.7 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PARD3B_chr2_204540475_205625162 | 205380216 | ATATTATA others(49): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0010 | a0010c0025 | a0010c0025t0022 | a0010c0025t0022g0008 | 1 | 54 | 0.0185 | -56 | c.263 others(77): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 18/22 | chr2 | TogoVar | |||||||
PARD3_chr10_34104561_34820296 | 34605553 | ATATCTCC others(49): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0026 | 1 | 97 | 0.0103 | -56 | c.223 others(75): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PARVG_chr22_44175925_44213469 | 44210387 | GTAATCTC others(49): Show |
G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01934.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0014 | a0001c0001t0010g0051 a0001c0001t0010g0059 a0001c0001t0010g0092 others(5): Show |
8 | 420 | 0.0190 | -56 | c.*39 others(67): Show |
PARVG | ENSG00000138964.17 | transcript | ENST00000444313.8 | protein_coding | 1919 | chr22 | TogoVar | |||||||
PATL1_chr11_59631716_59674037 | 59672310 | CTATATAT others(49): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02965.hp1 NA18906.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0005 | a0001c0001t0001g0049 a0002c0003t0005g0017 |
3 | 71 | 0.0423 | -56 | c.-34 others(67): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3274 | chr11 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613943 | ATATATAT others(49): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01168.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0004g0004 a0001c0001t0004g0012 a0001c0001t0004g0013 others(20): Show |
23 | 246 | 0.0935 | -56 | c.649 others(71): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAWR_chr12_79579879_79695964 | 79613945 | ATATATAT others(49): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0001 a0001c0001t0004g0005 a0001c0001t0004g0025 others(5): Show |
9 | 251 | 0.0359 | -56 | c.649 others(71): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 3/6 | chr12 | TogoVar | |||||||
PAXBP1_chr21_32728899_32776755 | 32771893 | AGAGAGAG others(49): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01175.hp1 HG01433.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(5): Show |
11 | 353 | 0.0312 | -56 | c.-28 others(65): Show |
PAXBP1 | ENSG00000159086.15 | transcript | ENST00000331923.9 | protein_coding | 139 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45910052 | ACCACTGC others(49): Show |
A | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0011 | 1 | 265 | 0.0038 | -56 | c.471 others(71): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54307025 | TATATGTG others(49): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 100 | 0.0100 | -56 | c.876 others(75): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54307036 | GTGTGTAT others(49): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0027 | a0002c0002t0027g0059 | 1 | 100 | 0.0100 | -56 | c.876 others(75): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54307048 | ATATATAT others(49): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp1 |
a0002a0003 | a0002c0021a0003c0003 | a0002c0021t0021a0003c0003t0009 | a0002c0021t0021g0055 a0003c0003t0009g0024 |
2 | 99 | 0.0202 | -56 | c.876 others(75): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54307025 | TATATGTG others(49): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 1 | 92 | 0.0109 | -56 | c.876 others(75): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54307036 | GTGTGTAT others(49): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0055 | 1 | 92 | 0.0109 | -56 | c.876 others(75): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54307048 | ATATATAT others(49): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 |
a0003a0015 | a0003c0024a0015c0027 | a0003c0024t0001a0015c0027t0001 | a0003c0024t0001g0024 a0015c0027t0001g0051 |
2 | 91 | 0.0220 | -56 | c.876 others(75): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 744813 | CCCGGGGG others(49): Show |
C | intron_variant | MODIFIER | HG03688.hp1 NA19003.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0050a0001c0003t0010 | a0001c0001t0050g0053 a0001c0003t0010g0126 |
2 | 361 | 0.0055 | -56 | c.462 others(71): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 744923 | GGGGCCCG others(49): Show |
G | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0187 | 1 | 364 | 0.0027 | -56 | c.462 others(71): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |