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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OXR1_chr8_106265190_106757694 | 106622455 | ACACACAC | A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG02145.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0046 a0001c0001t0001g0060 others(2): Show |
5 | 172 | 0.0291 | -7 | c.221 others(26): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 3/16 | chr8 | TogoVar | |||||||
OXSR1_chr3_38160537_38260484 | 38161544 | TAATATAG | T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01123.hp2 HG01361.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0025 a0001c0001t0001g0059 a0001c0001t0001g0096 others(8): Show |
11 | 248 | 0.0444 | -7 | c.-43 others(18): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 3992 | chr3 | TogoVar | |||||||
OXSR1_chr3_38160537_38260484 | 38184903 | CTTTTTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG01071.hp2 HG01243.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0031 a0001c0001t0001g0053 others(30): Show |
33 | 248 | 0.1331 | -7 | c.183 others(24): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OXTR_chr3_8745381_8774613 | 8773250 | TCTATATA | T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02647.hp2 HG02818.hp1 |
a0001a0003 | a0001c0004a0003c0006 | a0001c0004t0013a0003c0006t0001a0003c0006t0046 | a0001c0004t0013g0310 a0003c0006t0001g0097 a0003c0006t0046g0095 |
3 | 474 | 0.0063 | -7 | c.-42 others(18): Show |
OXTR | ENSG00000180914.11 | transcript | ENST00000316793.8 | protein_coding | 3638 | chr3 | TogoVar | |||||||
P2RX3_chr11_57333352_57377396 | 57374426 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01433.hp2 HG02083.hp2 HG03130.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0006t0004 | a0001c0001t0003g0015 a0001c0001t0003g0059 a0001c0001t0003g0060 others(3): Show |
6 | 354 | 0.0170 | -7 | c.*44 others(18): Show |
P2RX3 | ENSG00000109991.10 | transcript | ENST00000263314.3 | protein_coding | 2031 | chr11 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3685773 | TCCCCCGC | T | intron_variant | MODIFIER | HG00597.hp1 HG00735.hp1 HG00741.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 others(16): Show |
19 | 362 | 0.0525 | -7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3685910 | TCCCCCGC | T | intron_variant | MODIFIER | HG01074.hp1 HG01516.hp1 HG01516.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0066 a0001c0001t0001g0098 a0001c0001t0001g0124 others(9): Show |
12 | 362 | 0.0332 | -7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686039 | TCCCCCGC | T | intron_variant | MODIFIER | HG01516.hp1 HG01934.hp1 HG01981.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0038 a0001c0001t0001g0074 a0001c0001t0001g0094 others(9): Show |
12 | 362 | 0.0332 | -7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686107 | TCCCCCGC | T | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01069.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0011 a0001c0001t0001g0032 a0001c0001t0001g0114 others(11): Show |
15 | 362 | 0.0414 | -7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686236 | TCCCCCGC | T | intron_variant | MODIFIER | HG00673.hp1 HG00741.hp1 HG02015.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0313 a0001c0001t0002g0258 a0002c0002t0001g0027 others(2): Show |
5 | 362 | 0.0138 | -7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686365 | TCCCCCGC | T | intron_variant | MODIFIER | HG00438.hp1 HG00741.hp1 HG01123.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0054 a0001c0001t0001g0063 a0001c0001t0001g0133 others(3): Show |
6 | 362 | 0.0166 | -7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686433 | TCCCCCGC | T | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01081.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(2): Show | a0001c0001t0001g0038 a0001c0001t0001g0097 a0001c0001t0001g0113 others(15): Show |
19 | 362 | 0.0525 | -7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686501 | TCCCCCGC | T | intron_variant | MODIFIER | HG00609.hp1 HG00741.hp1 HG01069.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0023 a0001c0001t0001g0087 others(15): Show |
19 | 362 | 0.0525 | -7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686569 | TCCCCCGC | T | intron_variant | MODIFIER | HG00741.hp2 HG01346.hp2 HG01516.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0090 others(9): Show |
12 | 362 | 0.0332 | -7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686637 | TCCCCCGC | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG01257.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0006 | a0001c0001t0001g0308 a0001c0001t0001g0329 a0001c0001t0001g0338 others(2): Show |
5 | 362 | 0.0138 | -7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686834 | TCCCCCGC | T | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp1 HG01069.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0059 a0001c0001t0001g0124 others(4): Show |
8 | 362 | 0.0221 | -7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686902 | TCCCCCGC | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(35): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0023 others(32): Show |
38 | 362 | 0.1050 | -7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3687425 | TCCCCCGC | T | intron_variant | MODIFIER | HG00099.hp2 HG01257.hp1 NA19043.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0308 a0001c0001t0001g0329 a0001c0001t0002g0331 others(1): Show |
4 | 362 | 0.0111 | -7 | c.981 others(22): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RY10_chrX_78940391_78968727 | 78963321 | CTGGTTTT | C | 3_prime_UTR_variant | MODIFIER | NA19054.hp1 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0005 | 1 | 322 | 0.0031 | -7 | c.*17 others(18): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 4/4 | 1782 | chrX | TogoVar | ||||||
P2RY10_chrX_78940391_78968727 | 78965798 | CTTTCTCT | C | downstream_gene_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0130 | 1 | 322 | 0.0031 | -7 | c.*42 others(18): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 2072 | chrX | TogoVar | |||||||
P2RY10_chrX_78940391_78968727 | 78965887 | TTTCTTTC | T | downstream_gene_variant | MODIFIER | HG01975.hp2 HG04228.hp1 NA18940.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
6 | 322 | 0.0186 | -7 | c.*43 others(18): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 2161 | chrX | TogoVar | |||||||
P2RY12_chr3_151331843_151389753 | 151345517 | CTTTTTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00673.hp1 others(35): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0003a0001c0001t0014a0001c0009t0003 | a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0011 others(31): Show |
38 | 396 | 0.0960 | -7 | c.-17 others(26): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
P2RY14_chr3_151207117_151283542 | 151207693 | AGTGGAAG | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG02015.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011a0001c0001t0013 | a0001c0001t0002g0077 a0001c0001t0002g0118 a0001c0001t0002g0182 others(32): Show |
35 | 404 | 0.0866 | -7 | c.*56 others(18): Show |
P2RY14 | ENSG00000174944.9 | transcript | ENST00000309170.8 | protein_coding | 4423 | chr3 | TogoVar | |||||||
P2RY6_chr11_73267338_73303625 | 73296232 | AAATATAT | A | intron_variant | MODIFIER | HG02630.hp2 HG02717.hp2 HG02723.hp2 others(9): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0015a0001c0007t0003 | a0001c0001t0003g0021 a0001c0001t0003g0031 a0001c0001t0003g0047 others(9): Show |
12 | 324 | 0.0370 | -7 | c.-34 others(22): Show |
P2RY6 | ENSG00000171631.16 | transcript | ENST00000540124.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
P2RY6_chr11_73267338_73303625 | 73296234 | ATATATAT | A | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02886.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0053 others(6): Show |
9 | 324 | 0.0278 | -7 | c.-34 others(22): Show |
P2RY6 | ENSG00000171631.16 | transcript | ENST00000540124.6 | protein_coding | 2/2 | chr11 | TogoVar | |||||||
P2RY6_chr11_73267338_73303625 | 73300382 | AAAAAAAG | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01167.hp1 others(35): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0106 a0001c0001t0001g0223 a0001c0001t0001g0267 others(32): Show |
38 | 324 | 0.1173 | -7 | c.*28 others(18): Show |
P2RY6 | ENSG00000171631.16 | transcript | ENST00000540124.6 | protein_coding | 1758 | chr11 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1473810 | GGGTGAGT | G | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 114 | 0.0088 | -7 | c.-24 others(24): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1484748 | AGAAGAAG | A | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 114 | 0.0088 | -7 | c.-24 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1493454 | AAGGAGGG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(7): Show |
a0001a0002a0006 | a0001c0001a0002c0005a0006c0010 | a0001c0001t0002a0001c0001t0008a0001c0001t0016others(5): Show | a0001c0001t0002g0014 a0001c0001t0002g0050 a0001c0001t0002g0060 others(7): Show |
10 | 114 | 0.0877 | -7 | c.-24 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1505987 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp1 HG01071.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0056 others(9): Show |
12 | 114 | 0.1053 | -7 | c.-25 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1509362 | TCCATCCA | T | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0005 | a0002c0005t0017 | a0002c0005t0017g0062 | 1 | 114 | 0.0088 | -7 | c.-25 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1514823 | CTTTCCCT | C | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0027 | 1 | 114 | 0.0088 | -7 | c.-25 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1530150 | TATGTATG | T | intron_variant | MODIFIER | HG01070.hp2 HG02015.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0016 a0001c0001t0001g0075 a0001c0001t0006g0018 |
3 | 114 | 0.0263 | -7 | c.-25 others(24): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 190038486 | GAAAAAAA | G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(81): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0015 others(81): Show |
84 | 304 | 0.2763 | -7 | c.481 others(26): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73003920 | GTTTTTTT | G | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG01891.hp1 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0060 a0001c0002t0004g0061 a0001c0002t0004g0062 others(13): Show |
16 | 234 | 0.0684 | -7 | c.*42 others(18): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 3296 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73037562 | TATATATA | T | intron_variant | MODIFIER | HG00558.hp2 NA18949.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0010 | a0001c0001t0005g0088 a0001c0001t0008g0053 a0001c0001t0010g0004 |
3 | 234 | 0.0128 | -7 | c.114 others(26): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73037564 | TATATATA | T | intron_variant | MODIFIER | HG02027.hp2 NA18970.hp1 NA19005.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0185 a0001c0001t0002g0041 a0001c0001t0002g0044 others(1): Show |
4 | 234 | 0.0171 | -7 | c.114 others(26): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73037565 | ATATATAT | A | intron_variant | MODIFIER | HG00544.hp1 HG03209.hp1 NA18942.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0003t0001 | a0001c0001t0001g0124 a0001c0001t0001g0163 a0001c0001t0001g0223 others(2): Show |
5 | 234 | 0.0214 | -7 | c.114 others(26): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73070142 | CTTTTTTT | C | intron_variant | MODIFIER | HG01261.hp1 HG01891.hp1 HG02040.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0006 a0001c0001t0002g0024 a0001c0002t0004g0060 others(5): Show |
8 | 234 | 0.0342 | -7 | c.326 others(24): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 4/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093874 | ATATATAT | A | intron_variant | MODIFIER | HG02559.hp2 HG02630.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0123 a0001c0001t0003g0231 a0001c0001t0006g0109 |
3 | 234 | 0.0128 | -7 | c.-33 others(24): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73095227 | TAAAAAAA | T | intron_variant | MODIFIER | HG01074.hp2 HG01346.hp2 HG01884.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0004 | a0001c0001t0005g0084 a0001c0001t0005g0085 a0001c0001t0005g0086 others(10): Show |
13 | 234 | 0.0556 | -7 | c.-33 others(24): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
PABIR3_chrX_134802237_134859832 | 134838653 | TCCCCCTC | T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 199 | 0.0050 | -7 | c.247 others(24): Show |
PABIR3 | ENSG00000156500.16 | transcript | ENST00000645433.2 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PABIR3_chrX_134802237_134859832 | 134838667 | CCCCCCCT | C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 199 | 0.0050 | -7 | c.247 others(24): Show |
PABIR3 | ENSG00000156500.16 | transcript | ENST00000645433.2 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PABIR3_chrX_134802237_134859832 | 134856255 | GGCTCACT | G | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0030 others(1): Show |
4 | 199 | 0.0201 | -7 | c.*20 others(18): Show |
PABIR3 | ENSG00000156500.16 | transcript | ENST00000645433.2 | protein_coding | 1424 | chrX | TogoVar | |||||||
PABPC1L2A_chrX_73072276_73084512 | 73080202 | GGGGCTGC | G | upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 274 | 0.0037 | -7 | c.-82 others(16): Show |
PABPC1L2A | ENSG00000186288.5 | transcript | ENST00000373519.1 | protein_coding | 691 | chrX | TogoVar | |||||||
PABPC1L2A_chrX_73072276_73084512 | 73080210 | GGGGCTGC | G | upstream_gene_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0000 | 1 | 274 | 0.0037 | -7 | c.-83 others(16): Show |
PABPC1L2A | ENSG00000186288.5 | transcript | ENST00000373519.1 | protein_coding | 699 | chrX | TogoVar | |||||||
PABPC1L2A_chrX_73072276_73084512 | 73080226 | GGGGCTGC | G | upstream_gene_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 274 | 0.0037 | -7 | c.-84 others(16): Show |
PABPC1L2A | ENSG00000186288.5 | transcript | ENST00000373519.1 | protein_coding | 715 | chrX | TogoVar | |||||||
PABPC1L_chr20_44905060_44944316 | 44906521 | AAAAAAAG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(68): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0015 | a0001c0001t0002a0001c0003t0002a0006c0015t0002 | a0001c0001t0002g0004 a0001c0001t0002g0015 a0001c0001t0002g0016 others(54): Show |
71 | 396 | 0.1793 | -7 | c.-36 others(18): Show |
PABPC1L | ENSG00000101104.13 | transcript | ENST00000217073.7 | protein_coding | 3538 | chr20 | TogoVar | |||||||
PACRG_chr6_162722974_163320500 | 162872227 | AGCTCAGT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(127): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 others(127): Show |
130 | 130 | 1.0000 | -7 | c.291 others(26): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PACRG_chr6_162722974_163320500 | 162961302 | CCCCAAAT | C | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0010 | a0001c0001t0001g0052 a0001c0001t0001g0108 a0001c0001t0002g0066 others(2): Show |
5 | 130 | 0.0385 | -7 | c.292 others(28): Show |
PACRG | ENSG00000112530.13 | transcript | ENST00000366888.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |