| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GRK5_chr10_119202571_119464745 | 119427625 | AGCATCAC others(139): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01952.hp2 others(34): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(28): Show | a0001c0001t0002g0100 a0001c0001t0004g0065 a0001c0001t0004g0112 others(34): Show |
37 | 202 | 0.1832 | -146 | c.533 others(17): Show |
GRK5 | ENSG00000198873.12 | transcript | ENST00000392870.3 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113346917 | CCTGGGAG others(139): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01934.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0101 others(1): Show |
4 | 288 | 0.0139 | -146 | c.466 others(17): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 4/7 | chr13 | TogoVar | |||||||
| H1-7_chr12_48323980_48335279 | 48333098 | CCCCCCCA others(139): Show |
C | downstream_gene_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 424 | 0.0024 | -146 | c.*30 others(11): Show |
H1-7 | ENSG00000187166.1 | transcript | ENST00000335017.1 | protein_coding | 2820 | chr12 | TogoVar | |||||||
| HACE1_chr6_104723094_104864919 | 104727497 | ACATATGT others(139): Show |
A | downstream_gene_variant | MODIFIER | HG01516.hp2 HG01934.hp2 HG02896.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0170 others(6): Show |
9 | 346 | 0.0260 | -146 | c.*20 others(11): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 596 | chr6 | TogoVar | |||||||
| HEATR6_chr17_60036008_60083921 | 60042764 | CGTCCTGT others(139): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01070.hp1 others(23): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0007a0002c0002t0008a0002c0002t0010others(5): Show | a0002c0002t0007g0003 a0002c0002t0007g0019 a0002c0002t0007g0207 others(17): Show |
26 | 250 | 0.1040 | -146 | c.*65 others(9): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 653 | chr17 | TogoVar | ||||||
| HEATR6_chr17_60036008_60083921 | 60042773 | TGGCTGTG others(139): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01071.hp2 HG02630.hp1 HG03130.hp1 others(3): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0009a0002c0002t0089a0004c0004t0009 | a0002c0002t0009g0022 a0002c0002t0009g0213 a0002c0002t0009g0215 others(2): Show |
6 | 250 | 0.0240 | -146 | c.*64 others(9): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 644 | chr17 | TogoVar | ||||||
| IGLON5_chr19_51306644_51335891 | 51311035 | GGGGCCTG others(139): Show |
G | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00733.hp1 others(20): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0290 others(17): Show |
23 | 418 | 0.0550 | -146 | c.-81 others(9): Show |
IGLON5 | ENSG00000142549.10 | transcript | ENST00000270642.9 | protein_coding | 608 | chr19 | TogoVar | |||||||
| INPP4B_chr4_142018160_142851301 | 142442114 | TAAGAAAA others(139): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 90 | 0.0111 | -146 | c.-12 others(21): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 3/25 | chr4 | TogoVar | |||||||
| INPP5F_chr10_119721050_119834147 | 119722273 | CGCCCGGC others(139): Show |
C | upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 328 | 0.0031 | -146 | c.-39 others(11): Show |
INPP5F | ENSG00000198825.15 | transcript | ENST00000650623.2 | protein_coding | 3776 | chr10 | TogoVar | |||||||
| IPO11_chr5_62407763_62633582 | 62598403 | TCTTTCTT others(139): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0015 | 1 | 330 | 0.0030 | -146 | c.267 others(19): Show |
IPO11 | ENSG00000086200.17 | transcript | ENST00000325324.11 | protein_coding | 28/29 | chr5 | TogoVar | |||||||
| IQCG_chr3_197884077_197964991 | 197887602 | TAGCAGAG others(139): Show |
T | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01891.hp1 others(12): Show |
a0001a0002a0004 | a0001c0004a0001c0010a0002c0002others(1): Show | a0001c0004t0001a0001c0010t0001a0002c0002t0001others(1): Show | a0001c0004t0001g0031 a0001c0004t0001g0040 a0001c0004t0001g0041 others(12): Show |
15 | 280 | 0.0536 | -146 | c.*18 others(11): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 1474 | chr3 | TogoVar | |||||||
| ITPR2_chr12_26330352_26838194 | 26785568 | CCCCCGCC others(139): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0039 | 1 | 142 | 0.0070 | -146 | c.163 others(17): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 2/56 | chr12 | TogoVar | |||||||
| JAM3_chr11_134064072_134157001 | 134137670 | TAAGTCGT others(139): Show |
T | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0177 | 1 | 390 | 0.0026 | -146 | c.77- others(15): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| JAM3_chr11_134064072_134157001 | 134137816 | AAAGTCGT others(139): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02451.hp2 others(6): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0008a0001c0001t0037a0004c0006t0036 | a0001c0001t0008g0079 a0001c0001t0008g0080 a0001c0001t0008g0083 others(6): Show |
9 | 390 | 0.0231 | -146 | c.77- others(15): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| JAM3_chr11_134064072_134157001 | 134138245 | CGTCTCGT others(139): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0087 | 1 | 390 | 0.0026 | -146 | c.77- others(15): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| JAM3_chr11_134064072_134157001 | 134138323 | GGTCGAAG others(139): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0176 | 1 | 390 | 0.0026 | -146 | c.77- others(15): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| KLK14_chr19_51072897_51087887 | 51077782 | GGGGGCCT others(139): Show |
G | splice_region_variant | LOW | HG02055.hp2 HG02145.hp2 HG02486.hp2 others(7): Show |
a0002a0005a0010 | a0002c0007a0005c0006a0010c0012 | a0002c0007t0003a0005c0006t0003a0010c0012t0003 | a0002c0007t0003g0044 a0002c0007t0003g0076 a0002c0007t0003g0094 others(2): Show |
10 | 444 | 0.0225 | -146 | c.*79 others(8): Show |
KLK14 | ENSG00000129437.11 | transcript | ENST00000650543.2 | protein_coding | 6/6 | chr19 | TogoVar | |||||||
| LCN15_chr9_136754634_136769518 | 136769372 | GCCCCCCG others(139): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 356 | 0.0028 | -146 | c.-50 others(11): Show |
LCN15 | ENSG00000177984.7 | transcript | ENST00000316144.6 | protein_coding | 4855 | chr9 | TogoVar | |||||||
| LCN1_chr9_135516440_135531540 | 135528198 | TCACAGGT others(139): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01106.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(6): Show |
16 | 436 | 0.0367 | -146 | c.*18 others(11): Show |
LCN1 | ENSG00000160349.10 | transcript | ENST00000371781.4 | protein_coding | 1659 | chr9 | TogoVar | |||||||
| LDB2_chr4_16496541_16903645 | 16739586 | AAAAATAT others(139): Show |
A | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0162 | 1 | 162 | 0.0062 | -146 | c.235 others(19): Show |
LDB2 | ENSG00000169744.13 | transcript | ENST00000304523.10 | protein_coding | 2/7 | chr4 | TogoVar | |||||||
| LDHAL6A_chr11_18450856_18484601 | 18467903 | ATATATAT others(139): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01255.hp1 HG01433.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 a0001c0001t0002g0020 a0001c0001t0002g0032 others(1): Show |
8 | 420 | 0.0191 | -146 | c.418 others(17): Show |
LDHAL6A | ENSG00000166800.11 | transcript | ENST00000280706.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| LRCH2_chrX_115105616_115239096 | 115125406 | CATATATA others(139): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 a0001c0001t0002g0227 a0001c0001t0002g0228 others(3): Show |
6 | 238 | 0.0252 | -146 | c.179 others(19): Show |
LRCH2 | ENSG00000130224.15 | transcript | ENST00000317135.13 | protein_coding | 16/20 | chrX | TogoVar | |||||||
| LRCH3_chr3_197786254_197893436 | 197887602 | TAGCAGAG others(139): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01891.hp1 others(12): Show |
a0001a0003a0006 | a0001c0001a0001c0005a0003c0009others(1): Show | a0001c0001t0008a0001c0001t0023a0001c0001t0064others(7): Show | a0001c0001t0008g0075 a0001c0001t0008g0077 a0001c0001t0008g0084 others(12): Show |
15 | 292 | 0.0514 | -146 | c.*40 others(11): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 21/21 | 4016 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| LRRC27_chr10_132327193_132386508 | 132364460 | CCCACCCA others(139): Show |
C | intron_variant | MODIFIER | HG02970.hp2 HG03471.hp1 |
a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0001 | 2 | 290 | 0.0069 | -146 | c.129 others(17): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
| MACROD2_chr20_13990516_16058197 | 15454656 | AGTCACGC others(139): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01168.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0012 a0001c0001t0001g0021 others(11): Show |
14 | 24 | 0.5833 | -146 | c.571 others(19): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 7/17 | chr20 | TogoVar | |||||||
| MAP3K15_chrX_19355059_19520508 | 19452205 | GAAGAGAA others(139): Show |
G | intron_variant | MODIFIER | HG01258.hp1 NA19012.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0080 a0001c0001t0001g0121 |
3 | 163 | 0.0184 | -146 | c.995 others(17): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | |||||||
| MAP3K15_chrX_19355059_19520508 | 19452235 | GAAGAGAA others(139): Show |
G | intron_variant | MODIFIER | HG01081.hp2 NA18906.hp2 |
a0002 | a0002c0002a0002c0017 | a0002c0002t0002a0002c0017t0002 | a0002c0002t0002g0126 a0002c0017t0002g0145 |
2 | 163 | 0.0123 | -146 | c.995 others(17): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/28 | chrX | TogoVar | |||||||
| METRNL_chr17_83074609_83100122 | 83090345 | CCACCCCC others(139): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0008 | a0008c0014 | a0008c0014t0006 | a0008c0014t0006g0383 | 1 | 399 | 0.0025 | -146 | c.557 others(17): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| METTL24_chr6_110238940_110363349 | 110302422 | TATACACA others(139): Show |
T | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0180 | 1 | 268 | 0.0037 | -146 | c.558 others(17): Show |
METTL24 | ENSG00000053328.9 | transcript | ENST00000338882.5 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
| MGAM_chr7_141990879_142111747 | 142044880 | ACATACAC others(139): Show |
A | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0070 | a0001c0070t0001 | a0001c0070t0001g0276 | 1 | 316 | 0.0032 | -146 | c.249 others(19): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | chr7 | TogoVar | |||||||
| MSLN_chr16_755734_773862 | 767711 | GGCGTGGA others(139): Show |
G | intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 388 | 0.0026 | -146 | c.159 others(17): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NCAPG2_chr7_158626169_158709804 | 158667955 | TCTTACCC others(139): Show |
T | intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0151 | 1 | 378 | 0.0027 | -146 | c.148 others(19): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805848 | CGCAGGCC others(139): Show |
C | upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 319 | 0.0031 | -146 | c.-34 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3344 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241805894 | CACCCTCC others(139): Show |
C | upstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 319 | 0.0031 | -146 | c.-33 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3298 | chr2 | TogoVar | |||||||
| NEU4_chr2_241804193_241822413 | 241806195 | CCCCCTCA others(139): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 | 1 | 319 | 0.0031 | -146 | c.-30 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 2997 | chr2 | TogoVar | |||||||
| NHERF2_chr16_2021902_2044026 | 2034314 | GCGTCCCA others(139): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01884.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(4): Show | a0001c0001t0001g0046 a0001c0001t0001g0179 a0001c0001t0002g0134 others(5): Show |
10 | 422 | 0.0237 | -146 | c.415 others(17): Show |
NHERF2 | ENSG00000065054.14 | transcript | ENST00000424542.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NHERF2_chr16_2021902_2044026 | 2034437 | ACTCCTGT others(139): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG01167.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0058 a0001c0001t0002g0075 a0001c0001t0005g0201 others(5): Show |
9 | 422 | 0.0213 | -146 | c.415 others(17): Show |
NHERF2 | ENSG00000065054.14 | transcript | ENST00000424542.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NHERF2_chr16_2021902_2044026 | 2034629 | CGTGCTCC others(139): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0054 | 2 | 422 | 0.0047 | -146 | c.415 others(17): Show |
NHERF2 | ENSG00000065054.14 | transcript | ENST00000424542.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NHERF2_chr16_2021902_2044026 | 2034639 | CTCCCCTC others(139): Show |
C | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0239 | 1 | 422 | 0.0024 | -146 | c.415 others(17): Show |
NHERF2 | ENSG00000065054.14 | transcript | ENST00000424542.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| NLRP3_chr1_247411173_247453817 | 247427595 | ACTCTGAG others(139): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02809.hp2 HG02895.hp1 others(4): Show |
a0001 | a0001c0002a0001c0008a0001c0013 | a0001c0002t0002a0001c0008t0008a0001c0008t0009others(2): Show | a0001c0002t0002g0179 a0001c0008t0008g0051 a0001c0008t0008g0060 others(4): Show |
7 | 440 | 0.0159 | -146 | c.215 others(19): Show |
NLRP3 | ENSG00000162711.18 | transcript | ENST00000336119.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NLRP3_chr1_247411173_247453817 | 247427787 | CCCATTTC others(139): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02818.hp1 HG03195.hp2 |
a0001 | a0001c0005 | a0001c0005t0003a0001c0005t0011 | a0001c0005t0003g0174 a0001c0005t0003g0175 a0001c0005t0011g0038 |
3 | 440 | 0.0068 | -146 | c.215 others(19): Show |
NLRP3 | ENSG00000162711.18 | transcript | ENST00000336119.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| NUDCD1_chr8_109235919_109339087 | 109252329 | GCATAGAG others(139): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0005 | a0005c0005 | a0005c0005t0007 | a0005c0005t0007g0174 | 1 | 360 | 0.0028 | -146 | c.130 others(19): Show |
NUDCD1 | ENSG00000120526.12 | transcript | ENST00000239690.9 | protein_coding | 8/9 | chr8 | TogoVar | |||||||
| OR2T11_chr1_248618557_248640091 | 248637660 | ACAGGCAG others(139): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02145.hp2 others(6): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0004 | a0001c0001t0010a0001c0001t0011a0001c0001t0012others(2): Show | a0001c0001t0010g0022 a0001c0001t0011g0023 a0001c0001t0012g0078 others(4): Show |
9 | 314 | 0.0287 | -146 | c.-29 others(11): Show |
OR2T11 | ENSG00000279301.5 | transcript | ENST00000641193.1 | protein_coding | 2570 | chr1 | TogoVar | |||||||
| OR2T35_chr1_248631356_248650278 | 248637660 | ACAGGCAG others(139): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02145.hp2 others(6): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0004a0001c0003t0023a0003c0004t0004others(1): Show | a0001c0003t0004g0020 a0001c0003t0004g0102 a0001c0003t0023g0103 others(2): Show |
9 | 309 | 0.0291 | -146 | c.*48 others(9): Show |
OR2T35 | ENSG00000177151.5 | transcript | ENST00000641268.1 | protein_coding | 2/2 | 481 | chr1 | TogoVar | ||||||
| OTUD7A_chr15_31470398_31875673 | 31510540 | TGTATATC others(139): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp2 others(3): Show |
a0001a0002a0003 | a0001c0006a0002c0005a0003c0010 | a0001c0006t0049a0002c0005t0017a0002c0005t0020others(2): Show | a0001c0006t0049g0211 a0002c0005t0017g0238 a0002c0005t0020g0081 others(3): Show |
6 | 244 | 0.0246 | -146 | c.894 others(17): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
| PAPLN_chr14_73232506_73279623 | 73247563 | GCAGTGGG others(139): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0009 | a0009c0010 | a0009c0010t0001 | a0009c0010t0001g0283 | 1 | 418 | 0.0024 | -146 | c.334 others(17): Show |
PAPLN | ENSG00000100767.17 | transcript | ENST00000644200.2 | protein_coding | 5/26 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| PARD3B_chr2_204540475_205625162 | 204998368 | GTGTGTGT others(139): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02630.hp1 |
a0003 | a0003c0009a0003c0010 | a0003c0009t0002a0003c0010t0006 | a0003c0009t0002g0034 a0003c0010t0006g0021 |
2 | 54 | 0.0370 | -146 | c.394 others(19): Show |
PARD3B | ENSG00000116117.20 | transcript | ENST00000406610.7 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| PDXP_chr22_37653723_37671932 | 37669529 | TGCTGATC others(139): Show |
T | downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 418 | 0.0024 | -146 | c.*36 others(11): Show |
PDXP | ENSG00000241360.2 | transcript | ENST00000215904.7 | protein_coding | 2598 | chr22 | TogoVar | |||||||
| PDZRN4_chr12_41183320_41579745 | 41402264 | ATATATAT others(139): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp2 HG03130.hp1 |
a0001a0002 | a0001c0001a0002c0017 | a0001c0001t0001a0001c0001t0004a0002c0017t0001 | a0001c0001t0001g0086 a0001c0001t0004g0006 a0002c0017t0001g0092 |
3 | 206 | 0.0146 | -146 | c.844 others(21): Show |
PDZRN4 | ENSG00000165966.16 | transcript | ENST00000402685.7 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| PKP3_chr11_389209_409908 | 402460 | CACCCCGG others(139): Show |
C | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 216 | 0.0046 | -146 | c.173 others(17): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |