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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OTUB1_chr11_63981438_64003412 | 63990592 | ATAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 330 | 0.0030 | -13 | c.219 others(30): Show |
OTUB1 | ENSG00000167770.13 | transcript | ENST00000538426.6 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
OTUB2_chr14_94021340_94053930 | 94044206 | GCCCTCAC others(6): Show |
G | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0166 | 1 | 395 | 0.0025 | -13 | c.303 others(28): Show |
OTUB2 | ENSG00000089723.10 | transcript | ENST00000203664.10 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
OTUD5_chrX_48917024_48962607 | 48941432 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG03225.hp1 HG03516.hp1 others(4): Show |
a0001a0007 | a0001c0001a0001c0006a0007c0009 | a0001c0001t0001a0001c0006t0001a0007c0009t0001 | a0001c0001t0001g0122 a0001c0001t0001g0150 a0001c0001t0001g0162 others(4): Show |
7 | 266 | 0.0263 | -13 | c.688 others(30): Show |
OTUD5 | ENSG00000068308.15 | transcript | ENST00000376488.8 | protein_coding | 2/8 | chrX | TogoVar | |||||||
OTUD5_chrX_48917024_48962607 | 48958640 | CTTTTTTT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 266 | 0.0038 | -13 | c.-10 others(24): Show |
OTUD5 | ENSG00000068308.15 | transcript | ENST00000376488.8 | protein_coding | 1034 | chrX | TogoVar | |||||||
OTUD6A_chrX_70057457_70069179 | 70060515 | TAAAAAAA others(6): Show |
T | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 336 | 0.0030 | -13 | c.-20 others(24): Show |
OTUD6A | ENSG00000189401.3 | transcript | ENST00000338352.3 | protein_coding | 1941 | chrX | TogoVar | |||||||
OTUD6B_chr8_91065344_91092093 | 91082745 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0006 a0001c0001t0001g0072 a0001c0001t0009g0006 |
15 | 372 | 0.0403 | -13 | c.691 others(30): Show |
OTUD6B | ENSG00000155100.11 | transcript | ENST00000404789.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OTUD7A_chr15_31470398_31875673 | 31510980 | TATCTATA others(6): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0070 | a0001c0001t0070g0088 | 1 | 244 | 0.0041 | -13 | c.894 others(30): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 8/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31592903 | AAATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0235 | 1 | 244 | 0.0041 | -13 | c.152 others(32): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31592905 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01952.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0113 a0001c0001t0005g0232 a0001c0001t0006g0122 |
3 | 244 | 0.0123 | -13 | c.152 others(32): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 3/12 | chr15 | TogoVar | |||||||
OTUD7A_chr15_31470398_31875673 | 31659068 | TAAATAAA others(6): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02922.hp2 HG02965.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0032a0001c0001t0092a0001c0002t0085others(3): Show | a0001c0001t0032g0077 a0001c0001t0032g0078 a0001c0001t0092g0087 others(4): Show |
7 | 244 | 0.0287 | -13 | c.-99 others(30): Show |
OTUD7A | ENSG00000169918.10 | transcript | ENST00000307050.6 | protein_coding | 1/12 | chr15 | TogoVar | |||||||
OTUD7B_chr1_149932812_150015726 | 149947157 | AATAGATT others(6): Show |
A | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0023 | 1 | 278 | 0.0036 | -13 | c.132 others(28): Show |
OTUD7B | ENSG00000264522.6 | transcript | ENST00000581312.6 | protein_coding | 11/11 | chr1 | TogoVar | |||||||
OTULINL_chr5_14576792_14621180 | 14590060 | GCACAAAA others(6): Show |
G | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0242 | 1 | 380 | 0.0026 | -13 | c.64+ others(28): Show |
OTULINL | ENSG00000145569.6 | transcript | ENST00000274217.4 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
OTULIN_chr5_14659718_14704850 | 14703324 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02615.hp1 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0009a0001c0001t0027a0004c0004t0017 | a0001c0001t0009g0022 a0001c0001t0009g0119 a0001c0001t0009g0120 others(3): Show |
7 | 354 | 0.0198 | -13 | c.*10 others(26): Show |
OTULIN | ENSG00000154124.6 | transcript | ENST00000284274.5 | protein_coding | 3475 | chr5 | TogoVar | |||||||
OTX2_chr14_56794905_56815479 | 56808784 | GGCCTTCG others(6): Show |
G | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 404 | 0.0025 | -13 | c.-12 others(32): Show |
OTX2 | ENSG00000165588.19 | transcript | ENST00000672264.2 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
OVCA2_chr17_2037022_2048425 | 2037644 | TATGTTGG others(6): Show |
T | upstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 384 | 0.0026 | -13 | c.-44 others(24): Show |
OVCA2 | ENSG00000262664.3 | transcript | ENST00000572195.3 | protein_coding | 4377 | chr17 | TogoVar | |||||||
OVCH1_chr12_29434853_29502686 | 29485964 | AAAATAAA others(6): Show |
A | intron_variant | MODIFIER | HG02895.hp1 NA20300.hp2 |
a0039a0056 | a0039c0074a0056c0060 | a0039c0074t0001a0056c0060t0002 | a0039c0074t0001g0220 a0056c0060t0002g0232 |
2 | 400 | 0.0050 | -13 | c.991 others(28): Show |
OVCH1 | ENSG00000187950.9 | transcript | ENST00000537054.2 | protein_coding | 8/25 | chr12 | TogoVar | |||||||
OVCH1_chr12_29434853_29502686 | 29497159 | CTCAGGAG others(6): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG00733.hp2 others(29): Show |
a0002a0006a0010others(7): Show | a0002c0002a0006c0005a0010c0010others(7): Show | a0002c0002t0001a0006c0005t0001a0010c0010t0001others(7): Show | a0002c0002t0001g0372 a0006c0005t0001g0020 a0006c0005t0001g0349 others(28): Show |
32 | 400 | 0.0800 | -13 | c.64+ others(26): Show |
OVCH1 | ENSG00000187950.9 | transcript | ENST00000537054.2 | protein_coding | 1/25 | chr12 | TogoVar | |||||||
OVOL2_chr20_18019163_18062916 | 18042727 | GATCGGGC others(6): Show |
G | intron_variant | MODIFIER | HG02148.hp2 HG02486.hp2 HG02698.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0182 a0001c0001t0001g0244 a0001c0002t0001g0140 others(10): Show |
14 | 386 | 0.0363 | -13 | c.322 others(30): Show |
OVOL2 | ENSG00000125850.11 | transcript | ENST00000278780.7 | protein_coding | 2/3 | chr20 | TogoVar | |||||||
OXA1L_chr14_22761688_22778042 | 22772488 | CAAAAAAA others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(188): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(79): Show | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0003g0001 others(87): Show |
191 | 470 | 0.4064 | -13 | c.*94 others(22): Show |
OXA1L | ENSG00000155463.14 | transcript | ENST00000612549.6 | protein_coding | 10/10 | 949 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
OXER1_chr2_42757499_42769135 | 42767378 | GGGATGGC others(6): Show |
G | upstream_gene_variant | MODIFIER | NA20805.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0000 | 1 | 426 | 0.0024 | -13 | c.-33 others(24): Show |
OXER1 | ENSG00000162881.7 | transcript | ENST00000378661.4 | protein_coding | 3244 | chr2 | TogoVar | |||||||
OXLD1_chr17_81660036_81671605 | 81660085 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01081.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 14 | 402 | 0.0348 | -13 | c.*51 others(24): Show |
OXLD1 | ENSG00000204237.5 | transcript | ENST00000374741.4 | protein_coding | 4950 | chr17 | TogoVar | |||||||
OXLD1_chr17_81660036_81671605 | 81663314 | CTGTTTTC others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 402 | 0.0025 | -13 | c.*18 others(24): Show |
OXLD1 | ENSG00000204237.5 | transcript | ENST00000374741.4 | protein_coding | 1721 | chr17 | TogoVar | |||||||
OXR1_chr8_106265190_106757694 | 106339516 | AAAAATAT others(6): Show |
A | intron_variant | MODIFIER | HG02004.hp1 HG03453.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0046 a0001c0001t0001g0071 a0001c0001t0004g0063 |
3 | 172 | 0.0174 | -13 | c.-13 others(34): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OXR1_chr8_106265190_106757694 | 106339520 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02257.hp1 HG02486.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0170 a0001c0001t0004g0167 a0001c0001t0009g0171 others(4): Show |
7 | 172 | 0.0407 | -13 | c.-13 others(34): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
OXR1_chr8_106265190_106757694 | 106748554 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG01257.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015 | a0001c0001t0001g0047 a0001c0001t0001g0057 a0001c0001t0001g0068 others(12): Show |
15 | 172 | 0.0872 | -13 | c.248 others(32): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OXSM_chr3_25785090_25799531 | 25799413 | TTGTCACT others(6): Show |
T | downstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 382 | 0.0026 | -13 | c.*49 others(24): Show |
OXSM | ENSG00000151093.8 | transcript | ENST00000280701.8 | protein_coding | 4883 | chr3 | TogoVar | |||||||
OXSR1_chr3_38160537_38260484 | 38179777 | TATTTTCC others(6): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02630.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0001 | a0001c0001t0008g0016 a0001c0001t0008g0018 a0002c0002t0001g0015 others(3): Show |
6 | 248 | 0.0242 | -13 | c.71- others(28): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OXSR1_chr3_38160537_38260484 | 38184903 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01975.hp1 HG02300.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0032 a0001c0001t0005g0054 a0001c0001t0005g0055 |
3 | 248 | 0.0121 | -13 | c.183 others(30): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
OXT_chr20_3066620_3077517 | 3069188 | GCTCATGC others(6): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02280.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(1): Show |
13 | 462 | 0.0281 | -13 | c.-24 others(24): Show |
OXT | ENSG00000101405.3 | transcript | ENST00000217386.2 | protein_coding | 2431 | chr20 | TogoVar | |||||||
P2RX1_chr17_3891592_3921465 | 3904669 | TGCTGGGC others(6): Show |
T | intron_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0014a0002c0002t0013 | a0001c0001t0014g0155 a0002c0002t0013g0024 a0002c0002t0013g0156 |
4 | 378 | 0.0106 | -13 | c.357 others(28): Show |
P2RX1 | ENSG00000108405.4 | transcript | ENST00000225538.4 | protein_coding | 3/11 | chr17 | TogoVar | |||||||
P2RX3_chr11_57333352_57377396 | 57356992 | CTGTGTGA others(6): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03139.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0022 a0001c0001t0001g0074 a0001c0001t0004g0075 others(1): Show |
5 | 354 | 0.0141 | -13 | c.842 others(30): Show |
P2RX3 | ENSG00000109991.10 | transcript | ENST00000263314.3 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
P2RY12_chr3_151331843_151389753 | 151354140 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0121 | 1 | 396 | 0.0025 | -13 | c.-17 others(34): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
P2RY14_chr3_151207117_151283542 | 151218866 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01192.hp1 HG03130.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0037 a0001c0001t0001g0078 a0001c0001t0001g0158 others(5): Show |
8 | 404 | 0.0198 | -13 | c.-25 others(28): Show |
P2RY14 | ENSG00000174944.9 | transcript | ENST00000309170.8 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
P2RY14_chr3_151207117_151283542 | 151269428 | CACACACA others(6): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 404 | 0.0025 | -13 | c.-13 others(32): Show |
P2RY14 | ENSG00000174944.9 | transcript | ENST00000309170.8 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1468765 | CCCCTCTC others(6): Show |
C | intron_variant | MODIFIER | HG01978.hp2 HG03516.hp1 |
a0002a0004 | a0002c0005a0004c0013 | a0002c0005t0006a0004c0013t0001 | a0002c0005t0006g0058 a0004c0013t0001g0108 |
2 | 114 | 0.0175 | -13 | c.-24 others(30): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1509797 | CTATCTAT others(6): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG02165.hp1 others(8): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0001g0005 a0001c0001t0001g0026 a0001c0001t0001g0073 others(8): Show |
11 | 114 | 0.0965 | -13 | c.-25 others(32): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1514848 | TCCCTCCC others(6): Show |
T | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 114 | 0.0088 | -13 | c.-25 others(32): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 190041094 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02280.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(3): Show | a0001c0001t0001g0097 a0001c0001t0003g0099 a0001c0001t0015g0010 others(4): Show |
7 | 304 | 0.0230 | -13 | c.481 others(32): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 190041095 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp2 others(60): Show |
a0001a0006a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0038 a0001c0001t0001g0054 a0001c0001t0001g0106 others(60): Show |
63 | 304 | 0.2072 | -13 | c.481 others(32): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73037559 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | NA19001.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 a0001c0001t0001g0198 |
2 | 234 | 0.0086 | -13 | c.114 others(32): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73037561 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0123 a0001c0001t0003g0231 |
2 | 234 | 0.0086 | -13 | c.114 others(32): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73038622 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 | 1 | 234 | 0.0043 | -13 | c.114 others(32): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73070142 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0144 | 1 | 234 | 0.0043 | -13 | c.326 others(30): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 4/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093874 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 234 | 0.0043 | -13 | c.-33 others(30): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73101385 | TAAAAAAA others(6): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0084 a0001c0001t0005g0086 |
2 | 234 | 0.0086 | -13 | c.-46 others(24): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 4520 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73101697 | AAAAAAAT others(6): Show |
A | upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0092 | 1 | 234 | 0.0043 | -13 | c.-49 others(24): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 4832 | chr10 | TogoVar | |||||||
PA2G4_chr12_56099559_56118910 | 56116153 | GAAAGAAA others(6): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG02280.hp2 HG02615.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0011 others(1): Show |
5 | 352 | 0.0142 | -13 | c.*32 others(24): Show |
PA2G4 | ENSG00000170515.14 | transcript | ENST00000303305.11 | protein_coding | 2244 | chr12 | TogoVar | |||||||
PAAF1_chr11_73871999_73936114 | 73880687 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | NA18953.hp2 NA18961.hp1 NA18994.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0017 | a0001c0001t0004g0093 a0001c0001t0009g0091 a0001c0001t0009g0092 others(1): Show |
4 | 370 | 0.0108 | -13 | c.88+ others(28): Show |
PAAF1 | ENSG00000175575.13 | transcript | ENST00000310571.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PAAF1_chr11_73871999_73936114 | 73893738 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0236 | 1 | 370 | 0.0027 | -13 | c.282 others(30): Show |
PAAF1 | ENSG00000175575.13 | transcript | ENST00000310571.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PABPC4_chr1_39555816_39581790 | 39558101 | ATTTTTTT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 374 | 0.0027 | -13 | c.*30 others(24): Show |
PABPC4 | ENSG00000090621.15 | transcript | ENST00000372858.8 | protein_coding | 2714 | chr1 | TogoVar |