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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
OTX2_chr14_56794905_56815479 | 56810827 | T | TTTTGTTG | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01070.hp1 HG01099.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0018 others(7): Show |
19 | 251 | 0.0757 | 7 | c.-63 others(16): Show |
OTX2 | ENSG00000165588.19 | transcript | ENST00000672264.2 | protein_coding | 349 | chr14 | TogoVar | |||||||
OVOL2_chr20_18019163_18062916 | 18021812 | A | AGGGAAGG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(277): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(239): Show |
280 | 383 | 0.7311 | 7 | c.*28 others(18): Show |
OVOL2 | ENSG00000125850.11 | transcript | ENST00000278780.7 | protein_coding | 2350 | chr20 | TogoVar | |||||||
OVOL3_chr19_36106143_36118711 | 36116833 | C | CCAACATG | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01074.hp1 HG01109.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0013 others(1): Show |
36 | 448 | 0.0804 | 7 | c.*31 others(18): Show |
OVOL3 | ENSG00000105261.8 | transcript | ENST00000633214.2 | protein_coding | 3123 | chr19 | TogoVar | |||||||
OXER1_chr2_42757499_42769135 | 42765676 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(73): Show |
a0001a0002a0007 | a0001c0003a0001c0007a0002c0001others(3): Show | a0001c0003t0003a0001c0007t0004a0002c0001t0001others(4): Show | a0001c0003t0003g0000 a0001c0007t0004g0000 a0002c0001t0001g0000 others(4): Show |
76 | 289 | 0.2630 | 7 | c.-16 others(18): Show |
OXER1 | ENSG00000162881.7 | transcript | ENST00000378661.4 | protein_coding | 1542 | chr2 | TogoVar | |||||||
OXER1_chr2_42757499_42769135 | 42766818 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG01516.hp2 HG02132.hp1 HG02451.hp1 others(16): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0010others(1): Show | a0001c0002t0002a0001c0003t0003a0001c0010t0002others(1): Show | a0001c0002t0002g0000 a0001c0003t0003g0000 a0001c0010t0002g0000 others(1): Show |
19 | 94 | 0.2021 | 7 | c.-27 others(18): Show |
OXER1 | ENSG00000162881.7 | transcript | ENST00000378661.4 | protein_coding | 2684 | chr2 | TogoVar | |||||||
OXGR1_chr13_96980713_96999476 | 96990946 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(140): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0017 others(35): Show |
143 | 293 | 0.4881 | 7 | c.-12 others(26): Show |
OXGR1 | ENSG00000165621.9 | transcript | ENST00000541038.2 | protein_coding | 2/3 | chr13 | TogoVar | |||||||
OXR1_chr8_106265190_106757694 | 106293965 | A | ATTTTTTT | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0169 a0001c0001t0002g0004 a0001c0001t0004g0167 others(3): Show |
6 | 20 | 0.3000 | 7 | c.-13 others(28): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OXR1_chr8_106265190_106757694 | 106415579 | G | GAGAGAGC | intron_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG00741.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0017 a0001c0001t0001g0033 a0001c0001t0001g0038 others(27): Show |
30 | 71 | 0.4225 | 7 | c.23+ others(24): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
OXR1_chr8_106265190_106757694 | 106653081 | A | ATATATAT | intron_variant | MODIFIER | NA19062.hp2 NA19087.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0158 a0001c0002t0001g0133 |
2 | 131 | 0.0153 | 7 | c.221 others(26): Show |
OXR1 | ENSG00000164830.19 | transcript | ENST00000517566.7 | protein_coding | 3/16 | chr8 | TogoVar | |||||||
OXSR1_chr3_38160537_38260484 | 38161580 | T | TAATATAG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(79): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0030 a0001c0001t0001g0063 others(79): Show |
82 | 242 | 0.3388 | 7 | c.-42 others(18): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 3956 | chr3 | TogoVar | |||||||
OXSR1_chr3_38160537_38260484 | 38178621 | T | TATATATA | intron_variant | MODIFIER | HG02280.hp1 HG02922.hp2 NA19030.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0002c0002t0001 | a0001c0001t0008g0017 a0001c0001t0008g0018 a0002c0002t0001g0019 |
3 | 218 | 0.0138 | 7 | c.71- others(22): Show |
OXSR1 | ENSG00000172939.9 | transcript | ENST00000311806.8 | protein_coding | 1/17 | chr3 | TogoVar | |||||||
OXTR_chr3_8745381_8774613 | 8774456 | G | GCACGGAT | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01884.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0020a0001c0001t0038a0001c0002t0008others(11): Show | a0001c0001t0020g0062 a0001c0001t0020g0228 a0001c0001t0038g0085 others(14): Show |
26 | 472 | 0.0551 | 7 | c.-54 others(18): Show |
OXTR | ENSG00000180914.11 | transcript | ENST00000316793.8 | protein_coding | 4844 | chr3 | TogoVar | |||||||
P2RX1_chr17_3891592_3921465 | 3918178 | G | GGAAGGGA | upstream_gene_variant | MODIFIER | HG02559.hp2 HG02809.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011 | a0001c0001t0009g0038 a0001c0001t0009g0039 a0001c0001t0009g0040 others(1): Show |
4 | 74 | 0.0541 | 7 | c.-19 others(18): Show |
P2RX1 | ENSG00000108405.4 | transcript | ENST00000225538.4 | protein_coding | 1714 | chr17 | TogoVar | |||||||
P2RX3_chr11_57333352_57377396 | 57350296 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG00735.hp1 others(42): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(7): Show | a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0174 others(36): Show |
45 | 210 | 0.2143 | 7 | c.705 others(22): Show |
P2RX3 | ENSG00000109991.10 | transcript | ENST00000263314.3 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
P2RX4_chr12_121205129_121239106 | 121210011 | C | CCCCCGGG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(71): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0048 a0001c0003t0001g0042 a0001c0003t0001g0271 others(48): Show |
74 | 386 | 0.1917 | 7 | c.-15 others(16): Show |
P2RX4 | ENSG00000135124.16 | transcript | ENST00000337233.9 | protein_coding | 117 | chr12 | TogoVar | |||||||
P2RX4_chr12_121205129_121239106 | 121219559 | A | ATCTTGAT | intron_variant | MODIFIER | HG01891.hp1 HG02976.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0015 a0001c0003t0001g0210 |
4 | 386 | 0.0104 | 7 | c.282 others(24): Show |
P2RX4 | ENSG00000135124.16 | transcript | ENST00000337233.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
P2RX5_chr17_3668227_3701155 | 3685712 | T | TCCCCCGC | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00597.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0133 a0001c0001t0001g0144 a0001c0001t0001g0152 others(16): Show |
19 | 342 | 0.0556 | 7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3685978 | T | TCCCCCGC | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00741.hp1 others(45): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0018 a0001c0001t0001g0048 others(41): Show |
48 | 330 | 0.1455 | 7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686175 | T | TCCCCCGC | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00621.hp2 others(50): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0048 others(46): Show |
53 | 347 | 0.1527 | 7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686304 | T | TCCCCCGC | intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG01071.hp2 others(33): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0048 others(32): Show |
36 | 344 | 0.1047 | 7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3686705 | T | TCCCCCGC | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00735.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0014 others(21): Show |
31 | 348 | 0.0891 | 7 | c.981 others(24): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3687038 | T | TCCCCCGC | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00741.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0133 a0001c0001t0001g0240 others(11): Show |
15 | 358 | 0.0419 | 7 | c.981 others(22): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3687167 | T | TCCCCCGC | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01081.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0064 a0001c0001t0001g0065 others(5): Show |
9 | 356 | 0.0253 | 7 | c.981 others(22): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX5_chr17_3668227_3701155 | 3687364 | T | TCCCCCGC | intron_variant | MODIFIER | HG00099.hp2 HG01257.hp1 HG02622.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0286 a0001c0001t0001g0303 a0001c0001t0002g0305 others(1): Show |
4 | 360 | 0.0111 | 7 | c.981 others(22): Show |
P2RX5 | ENSG00000083454.23 | transcript | ENST00000225328.10 | protein_coding | 9/11 | chr17 | TogoVar | |||||||
P2RX7_chr12_121127876_121193032 | 121147605 | G | GTTGTTGT | intron_variant | MODIFIER | HG02818.hp2 HG03453.hp2 HG03486.hp1 |
a0005 | a0005c0017 | a0005c0017t0005 | a0005c0017t0005g0214 a0005c0017t0005g0215 a0005c0017t0005g0216 |
3 | 362 | 0.0083 | 7 | c.126 others(24): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
P2RX7_chr12_121127876_121193032 | 121171862 | C | CTTTCTTT | intron_variant | MODIFIER | NA18945.hp2 NA18947.hp1 NA18950.hp2 others(15): Show |
a0009a0010a0014others(1): Show | a0009c0009a0010c0010a0014c0012others(1): Show | a0009c0009t0006a0010c0010t0006a0014c0012t0006others(1): Show | a0009c0009t0006g0266 a0009c0009t0006g0267 a0009c0009t0006g0268 others(15): Show |
18 | 305 | 0.0590 | 7 | c.882 others(24): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
P2RX7_chr12_121127876_121193032 | 121175176 | T | TTTGTACA | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01884.hp1 others(11): Show |
a0011a0020a0022 | a0011c0011a0020c0022a0022c0027 | a0011c0011t0004a0011c0011t0005a0020c0022t0005others(1): Show | a0011c0011t0004g0181 a0011c0011t0004g0182 a0011c0011t0004g0183 others(10): Show |
14 | 364 | 0.0385 | 7 | c.882 others(22): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 8/12 | chr12 | TogoVar | |||||||
P2RX7_chr12_121127876_121193032 | 121175310 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp2 HG01517.hp2 HG01981.hp2 others(8): Show |
a0005a0012a0021 | a0005c0017a0012c0013a0021c0026others(1): Show | a0005c0017t0005a0012c0013t0005a0021c0026t0016others(1): Show | a0005c0017t0005g0215 a0005c0017t0005g0290 a0012c0013t0005g0006 others(8): Show |
11 | 235 | 0.0468 | 7 | c.882 others(20): Show |
P2RX7 | ENSG00000089041.17 | transcript | ENST00000328963.10 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
P2RY10_chrX_78940391_78968727 | 78965406 | T | TTCTTTTC | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 others(7): Show |
13 | 296 | 0.0439 | 7 | c.*38 others(18): Show |
P2RY10 | ENSG00000078589.13 | transcript | ENST00000171757.3 | protein_coding | 1680 | chrX | TogoVar | |||||||
P2RY12_chr3_151331843_151389753 | 151336694 | T | TGAAATGA | downstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(28): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0003a0001c0001t0013a0001c0001t0014others(1): Show | a0001c0001t0003g0011 a0001c0001t0003g0033 a0001c0001t0003g0034 others(23): Show |
31 | 394 | 0.0787 | 7 | c.*11 others(18): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 148 | chr3 | TogoVar | |||||||
P2RY12_chr3_151331843_151389753 | 151354140 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG01081.hp2 HG02015.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0028 a0001c0001t0001g0042 a0001c0001t0001g0152 others(5): Show |
11 | 139 | 0.0791 | 7 | c.-17 others(28): Show |
P2RY12 | ENSG00000169313.10 | transcript | ENST00000302632.4 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
P2RY14_chr3_151207117_151283542 | 151269441 | A | ACACACAC | intron_variant | MODIFIER | HG01952.hp2 HG02897.hp1 NA18989.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0013a0001c0002t0003 | a0001c0001t0001g0200 a0001c0001t0013g0217 a0001c0002t0003g0093 |
3 | 392 | 0.0077 | 7 | c.-13 others(26): Show |
P2RY14 | ENSG00000174944.9 | transcript | ENST00000309170.8 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
P2RY14_chr3_151207117_151283542 | 151270242 | T | TGTGTGTG | intron_variant | MODIFIER | HG02155.hp1 HG02155.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0078 a0001c0001t0001g0243 a0001c0001t0001g0275 others(2): Show |
5 | 384 | 0.0130 | 7 | c.-13 others(26): Show |
P2RY14 | ENSG00000174944.9 | transcript | ENST00000309170.8 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1461851 | C | CTAATATA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(73): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(73): Show |
76 | 113 | 0.6726 | 7 | c.*36 others(18): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 729 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1461870 | A | ATCATCTG | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00621.hp1 HG01975.hp2 others(19): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(2): Show | a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0034 others(19): Show |
22 | 113 | 0.1947 | 7 | c.*36 others(18): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 710 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1461905 | A | ATCTATCT | downstream_gene_variant | MODIFIER | HG03195.hp1 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0033 a0001c0003t0003g0065 |
2 | 110 | 0.0182 | 7 | c.*35 others(18): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 675 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1468898 | T | TCCCTCTC | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(43): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0023 a0001c0001t0001g0032 a0001c0001t0001g0035 others(43): Show |
46 | 108 | 0.4259 | 7 | c.-24 others(24): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1493434 | G | GGGAAGGA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0005a0004c0006 | a0001c0001t0002a0001c0001t0008a0001c0001t0016others(5): Show | a0001c0001t0002g0013 a0001c0001t0002g0042 a0001c0001t0002g0051 others(7): Show |
10 | 112 | 0.0893 | 7 | c.-24 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1493440 | G | GAGGAGGA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(17): Show | a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0031 others(35): Show |
38 | 98 | 0.3878 | 7 | c.-24 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1505137 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00639.hp1 others(33): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0015 a0001c0001t0001g0028 a0001c0001t0001g0031 others(33): Show |
36 | 64 | 0.5625 | 7 | c.-25 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1509809 | C | CATCTATG | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0031a0002c0002t0006 | a0001c0001t0003g0063 a0001c0001t0031g0113 a0002c0002t0006g0064 |
3 | 113 | 0.0265 | 7 | c.-25 others(26): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P2RY8_chrX_1457581_1542185 | 1530513 | C | CTAATTTA | intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG02273.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0030a0002c0002t0004 | a0001c0001t0002g0013 a0001c0001t0030g0010 a0002c0002t0004g0012 |
3 | 113 | 0.0265 | 7 | c.-25 others(24): Show |
P2RY8 | ENSG00000182162.11 | transcript | ENST00000381297.10 | protein_coding | 1/1 | chrX | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 189962161 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01123.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(1): Show | a0001c0001t0001g0015 a0001c0001t0007g0075 a0001c0002t0001g0131 others(5): Show |
8 | 96 | 0.0833 | 7 | c.203 others(26): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 14/14 | chr3 | TogoVar | |||||||
P3H2_chr3_189951728_190125897 | 190023019 | T | TGTTTCAC | intron_variant | MODIFIER | HG01361.hp2 HG01891.hp2 HG02257.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0097 a0001c0001t0001g0287 a0001c0001t0003g0099 others(10): Show |
13 | 302 | 0.0430 | 7 | c.481 others(26): Show |
P3H2 | ENSG00000090530.10 | transcript | ENST00000319332.10 | protein_coding | 1/14 | chr3 | TogoVar | |||||||
P3H3_chr12_6823407_6844847 | 6844091 | G | GTCTTTTT | downstream_gene_variant | MODIFIER | HG00621.hp1 HG02027.hp1 NA18947.hp1 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0009a0003c0003others(4): Show | a0001c0001t0001a0002c0009t0001a0003c0003t0002others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0002c0009t0001g0041 others(8): Show |
22 | 274 | 0.0803 | 7 | c.*46 others(18): Show |
P3H3 | ENSG00000110811.20 | transcript | ENST00000290510.10 | protein_coding | 4245 | chr12 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73019730 | G | GAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(120): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 others(120): Show |
123 | 124 | 0.9919 | 7 | c.124 others(26): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 10/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73037572 | T | TATATATA | intron_variant | MODIFIER | HG03471.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0152 a0001c0001t0003g0229 |
2 | 219 | 0.0091 | 7 | c.114 others(26): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 9/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73093873 | A | ATATATAT | intron_variant | MODIFIER | NA18953.hp1 NA18993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 a0001c0001t0001g0132 |
2 | 135 | 0.0148 | 7 | c.-33 others(24): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
P4HA1_chr10_73002217_73101866 | 73101702 | A | ATATATAT | upstream_gene_variant | MODIFIER | HG02897.hp2 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0217 a0001c0001t0003g0113 |
2 | 175 | 0.0114 | 7 | c.-49 others(18): Show |
P4HA1 | ENSG00000122884.13 | transcript | ENST00000394890.7 | protein_coding | 4837 | chr10 | TogoVar | |||||||
PABPC1L_chr20_44905060_44944316 | 44929794 | C | CAAAAAAA | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02630.hp1 others(4): Show |
a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0010 a0003c0006t0002g0044 a0003c0006t0002g0045 others(2): Show |
7 | 378 | 0.0185 | 7 | c.973 others(22): Show |
PABPC1L | ENSG00000101104.13 | transcript | ENST00000217073.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |