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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLEKHG4B_chr5_87168_194966 | 165135 | GTGACGGG others(49): Show |
G | intron_variant | MODIFIER | HG00140.hp2 | a0002 | a0002c0005 | a0002c0005t0098 | a0002c0005t0098g0044 | 1 | 170 | 0.0059 | -56 | c.347 others(75): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 165757 | GCGGGGCT others(49): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG04115.hp1 NA18970.hp2 |
a0002a0004 | a0002c0005a0004c0006a0004c0054 | a0002c0005t0001a0004c0006t0095a0004c0054t0001 | a0002c0005t0001g0031 a0004c0006t0095g0004 a0004c0054t0001g0138 |
3 | 207 | 0.0145 | -56 | c.347 others(75): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 165802 | GCTCTGAT others(49): Show |
G | intron_variant | MODIFIER | HG00323.hp2 | a0015 | a0015c0019 | a0015c0019t0012 | a0015c0019t0012g0163 | 1 | 205 | 0.0049 | -56 | c.347 others(75): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 165886 | GCTCTGAC others(49): Show |
G | intron_variant | MODIFIER | HG00735.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0131 | 1 | 205 | 0.0049 | -56 | c.347 others(75): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 165983 | GGGGCTCA others(49): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG00673.hp1 HG00733.hp1 others(12): Show |
a0002a0004a0024 | a0002c0003a0002c0005a0004c0006others(1): Show | a0002c0003t0033a0002c0003t0097a0002c0003t0101others(10): Show | a0002c0003t0033g0018 a0002c0003t0097g0030 a0002c0003t0101g0127 others(12): Show |
15 | 208 | 0.0721 | -56 | c.347 others(75): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 166065 | GCGGGGCT others(49): Show |
G | intron_variant | MODIFIER | HG01515.hp2 NA19088.hp2 |
a0002a0004 | a0002c0057a0004c0006 | a0002c0057t0001a0004c0006t0001 | a0002c0057t0001g0027 a0004c0006t0001g0056 |
2 | 208 | 0.0096 | -56 | c.347 others(75): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 166250 | GCTCTGAC others(49): Show |
G | intron_variant | MODIFIER | HG02004.hp2 NA19043.hp1 |
a0015a0019 | a0015c0019a0019c0029 | a0015c0019t0021a0019c0029t0068 | a0015c0019t0021g0190 a0019c0029t0068g0154 |
2 | 207 | 0.0097 | -56 | c.347 others(75): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLK3_chr1_44795377_44810990 | 44795447 | TATATACA others(49): Show |
T | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02004.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 3 | 382 | 0.0079 | -56 | c.-50 others(67): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4929 | chr1 | TogoVar | |||||||
PLK3_chr1_44795377_44810990 | 44796061 | TATAAATA others(49): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 381 | 0.0026 | -56 | c.-44 others(67): Show |
PLK3 | ENSG00000173846.13 | transcript | ENST00000372201.5 | protein_coding | 4315 | chr1 | TogoVar | |||||||
PLXNC1_chr12_94143577_94312675 | 94177149 | GTATATAT others(49): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0006 | a0001c0006t0008 | a0001c0006t0008g0075 | 1 | 282 | 0.0035 | -56 | c.120 others(75): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
POLA2_chr11_65256962_65303685 | 65300416 | AAACTCCT others(49): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 a0001c0001t0001g0109 |
2 | 282 | 0.0071 | -56 | c.*31 others(67): Show |
POLA2 | ENSG00000014138.10 | transcript | ENST00000265465.8 | protein_coding | 1732 | chr11 | TogoVar | |||||||
POU2AF1_chr11_111347255_111384275 | 111352963 | GAGGAAGG others(49): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00639.hp2 HG01099.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0145 a0001c0001t0007g0146 a0001c0001t0009g0201 |
3 | 247 | 0.0121 | -56 | c.*12 others(67): Show |
POU2AF1 | ENSG00000110777.12 | transcript | ENST00000393067.8 | protein_coding | 5/5 | 1242 | chr11 | TogoVar | ||||||
POU2F1_chr1_167215886_167432340 | 167320089 | TTCTACTC others(49): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG02647.hp2 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0011a0001c0001t0050others(1): Show | a0001c0001t0010g0026 a0001c0001t0010g0027 a0001c0001t0010g0028 others(5): Show |
8 | 290 | 0.0276 | -56 | c.62- others(73): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PPM1L_chr3_160751231_161083902 | 160944991 | ATATATAT others(49): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02273.hp1 HG02300.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0032 a0001c0001t0007g0146 a0001c0001t0007g0148 |
3 | 96 | 0.0313 | -56 | c.400 others(75): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPP1R14D_chr15_40810451_40833708 | 40831706 | TCAAAAAA others(49): Show |
T | upstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 386 | 0.0026 | -56 | c.-31 others(67): Show |
PPP1R14D | ENSG00000166143.10 | transcript | ENST00000299174.10 | protein_coding | 2999 | chr15 | TogoVar | |||||||
PPP2R5C_chr14_101756709_101932977 | 101782476 | CGCTCCCT others(49): Show |
C | intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0092 | 1 | 132 | 0.0076 | -56 | c.94- others(71): Show |
PPP2R5C | ENSG00000078304.20 | transcript | ENST00000694906.1 | protein_coding | 2/15 | chr14 | TogoVar | |||||||
PPP5C_chr19_46342087_46395975 | 46389362 | AACACACA others(49): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01099.hp1 others(22): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0049 others(18): Show |
25 | 83 | 0.3012 | -56 | c.135 others(73): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRAMEF15_chr1_13310581_13327598 | 13325501 | TACACCAC others(49): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 300 | 0.0033 | -56 | c.*32 others(67): Show |
PRAMEF15 | ENSG00000204501.7 | transcript | ENST00000376152.2 | protein_coding | 2904 | chr1 | TogoVar | |||||||
PRAMEF7_chr1_12911610_12925751 | 12915508 | TCTTTCTT others(49): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG02257.hp2 others(6): Show |
a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0004 | 9 | 254 | 0.0354 | -56 | c.-12 others(67): Show |
PRAMEF7 | ENSG00000204510.6 | transcript | ENST00000697200.1 | protein_coding | 1101 | chr1 | TogoVar | |||||||
PRDM11_chr11_45141639_45240109 | 45238788 | AAAAGCTG others(49): Show |
A | downstream_gene_variant | MODIFIER | HG02647.hp2 HG02809.hp1 HG02818.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0019a0001c0002t0077 | a0001c0002t0019g0006 a0001c0002t0077g0157 |
4 | 306 | 0.0131 | -56 | c.*10 others(69): Show |
PRDM11 | ENSG00000019485.14 | transcript | ENST00000683152.1 | protein_coding | 3680 | chr11 | TogoVar | |||||||
PRDM16_chr1_3064203_3443621 | 3150957 | CGGGGGGC others(49): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG02602.hp2 NA18983.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0001t0033a0001c0001t0070others(3): Show | a0001c0001t0001g0179 a0001c0001t0033g0198 a0001c0001t0070g0100 others(4): Show |
7 | 208 | 0.0337 | -56 | c.38- others(73): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3316611 | CCAGGAAA others(49): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03225.hp1 NA19043.hp1 |
a0001a0010 | a0001c0001a0010c0023 | a0001c0001t0001a0001c0001t0056a0010c0023t0025 | a0001c0001t0001g0203 a0001c0001t0056g0204 a0010c0023t0025g0007 |
3 | 208 | 0.0144 | -56 | c.439 others(75): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRDM16_chr1_3064203_3443621 | 3379454 | ACACACCC others(49): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02109.hp2 others(9): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0006others(4): Show | a0001c0001t0086a0001c0004t0073a0001c0006t0011others(8): Show | a0001c0001t0086g0033 a0001c0004t0073g0143 a0001c0006t0011g0039 others(9): Show |
12 | 204 | 0.0588 | -56 | c.439 others(73): Show |
PRDM16 | ENSG00000142611.17 | transcript | ENST00000270722.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRIMA1_chr14_93713298_93793485 | 93768991 | GCCAGTGA others(49): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(290): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0043 a0001c0001t0001g0165 a0001c0001t0001g0368 others(276): Show |
293 | 396 | 0.7399 | -56 | c.229 others(75): Show |
PRIMA1 | ENSG00000175785.13 | transcript | ENST00000393140.6 | protein_coding | 3/4 | chr14 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151782367 | GGGAGGGA others(49): Show |
G | intron_variant | MODIFIER | HG03098.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0104 |
2 | 153 | 0.0131 | -56 | c.187 others(71): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
PRKN_chr6_161342417_162732766 | 161873970 | AATATATA others(49): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG02602.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0007 | a0001c0001t0001g0030 a0002c0002t0007g0008 |
2 | 32 | 0.0625 | -56 | c.735 others(75): Show |
PRKN | ENSG00000185345.25 | transcript | ENST00000366898.6 | protein_coding | 6/11 | chr6 | TogoVar | |||||||
PRKX_chrX_3599340_3718649 | 3639275 | GGATGGAT others(49): Show |
G | intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 225 | 0.0044 | -56 | c.719 others(73): Show |
PRKX | ENSG00000183943.6 | transcript | ENST00000262848.6 | protein_coding | 4/8 | chrX | TogoVar | |||||||
PRODH_chr22_18907781_18941293 | 18937770 | GTGCAGGG others(49): Show |
G | upstream_gene_variant | MODIFIER | HG01515.hp2 | a0024 | a0024c0030 | a0024c0030t0001 | a0024c0030t0001g0073 | 1 | 408 | 0.0025 | -56 | c.-15 others(67): Show |
PRODH | ENSG00000100033.17 | transcript | ENST00000357068.11 | protein_coding | 1478 | chr22 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54130007 | TGGCCGGG others(49): Show |
T | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 216 | 0.0046 | -56 | c.137 others(73): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PRPF6_chr20_63976132_64038100 | 64012518 | TCTTTCTT others(49): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp2 HG02622.hp2 others(14): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 others(13): Show |
17 | 292 | 0.0582 | -56 | c.152 others(75): Show |
PRPF6 | ENSG00000101161.8 | transcript | ENST00000266079.5 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127288148 | AAGGCCAT others(49): Show |
A | upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0020 | 1 | 430 | 0.0023 | -56 | c.-33 others(65): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 103 | chr3 | TogoVar | |||||||
PTDSS2_chr11_445279_496399 | 491674 | ACTGTGTT others(49): Show |
A | downstream_gene_variant | MODIFIER | HG01884.hp2 HG03225.hp2 HG03486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0013 | a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0004g0158 others(1): Show |
5 | 209 | 0.0239 | -56 | c.*10 others(67): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 276 | chr11 | TogoVar | |||||||
PTGER4_chr5_40674915_40698735 | 40697060 | GAAAAGAA others(49): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(107): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(31): Show |
110 | 404 | 0.2723 | -56 | c.*46 others(67): Show |
PTGER4 | ENSG00000171522.6 | transcript | ENST00000302472.4 | protein_coding | 3326 | chr5 | TogoVar | |||||||
PTP4A2_chr1_31901421_31943368 | 31908111 | AAAATATA others(49): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0132 others(1): Show |
5 | 218 | 0.0229 | -56 | c.*68 others(65): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 685 | chr1 | TogoVar | ||||||
PTPRK_chr6_127963785_128525599 | 128435066 | AAGGAAGG others(49): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0043 | 1 | 52 | 0.0192 | -56 | c.101 others(75): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 1/29 | chr6 | TogoVar | |||||||
PTPRM_chr18_7562316_8411856 | 7909702 | ATTTGCTC others(49): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG02040.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0051 others(12): Show |
15 | 80 | 0.1875 | -56 | c.547 others(73): Show |
PTPRM | ENSG00000173482.17 | transcript | ENST00000580170.6 | protein_coding | 4/32 | chr18 | TogoVar | |||||||
PTPRO_chr12_15317508_15603331 | 15513083 | AGAAAGAA others(49): Show |
A | intron_variant | MODIFIER | NA19030.hp1 NA21309.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0004 | a0001c0002t0001g0035 a0001c0008t0004g0071 |
2 | 156 | 0.0128 | -56 | c.146 others(75): Show |
PTPRO | ENSG00000151490.15 | transcript | ENST00000281171.9 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42276496 | AATATATA others(49): Show |
A | intron_variant | MODIFIER | HG02886.hp1 HG03540.hp1 |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0029 | a0001c0003t0001g0038 a0001c0003t0029g0048 |
2 | 18 | 0.1111 | -56 | c.217 others(75): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 13/30 | chr20 | TogoVar | |||||||
PUM1_chr1_30926506_31070717 | 30972260 | AAAGAAAA others(49): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00741.hp2 HG01243.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0013 | a0001c0001t0001g0054 a0001c0002t0001g0011 a0001c0002t0001g0025 others(4): Show |
7 | 272 | 0.0257 | -56 | c.150 others(75): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 10/21 | chr1 | TogoVar | |||||||
PVALEF_chr17_81160507_81188166 | 81185230 | AATGCTGG others(49): Show |
A | downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 406 | 0.0025 | -56 | c.*22 others(67): Show |
PVALEF | ENSG00000225180.8 | transcript | ENST00000637878.2 | protein_coding | 2065 | chr17 | TogoVar | |||||||
PWWP2B_chr10_132392200_132422859 | 132419534 | GGGGAGGG others(49): Show |
G | downstream_gene_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 372 | 0.0027 | -56 | c.*24 others(67): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 1676 | chr10 | TogoVar | |||||||
PWWP3A_chr19_1349959_1383429 | 1361768 | CGGCCCCC others(49): Show |
C | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0086 | 1 | 410 | 0.0024 | -56 | c.111 others(73): Show |
PWWP3A | ENSG00000160953.17 | transcript | ENST00000591337.7 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141248601 | ATATACAC others(49): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0326 | 1 | 252 | 0.0040 | -56 | c.-53 others(75): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121365601 | TAATATAT others(49): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01884.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 a0002c0002t0001g0005 |
3 | 319 | 0.0094 | -56 | c.340 others(75): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82696554 | AAGCCCTG others(49): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01070.hp1 HG01071.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0055 a0001c0001t0002g0230 a0001c0001t0002g0297 others(22): Show |
27 | 75 | 0.3600 | -56 | c.142 others(73): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RALYL_chr8_84178274_84926844 | 84287310 | CTGGGCTA others(49): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00741.hp2 others(78): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(78): Show |
81 | 82 | 0.9878 | -56 | c.-24 others(77): Show |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RASA3_chr13_113972783_114137623 | 113999885 | CAGGGGTC others(49): Show |
C | intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 66 | 0.0152 | -56 | c.185 others(73): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 19/23 | chr13 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180101991 | TCCCACCT others(49): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(10): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0003a0001c0003t0010a0001c0003t0017others(1): Show | a0001c0003t0003g0041 a0001c0003t0003g0123 a0001c0003t0003g0129 others(10): Show |
13 | 367 | 0.0354 | -56 | c.137 others(71): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 13/13 | chr5 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 6779740 | TTTTTATA others(49): Show |
T | intron_variant | MODIFIER | HG02622.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0023 | a0001c0001t0004g0033 a0001c0001t0023g0051 |
2 | 68 | 0.0294 | -56 | c.-16 others(77): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29295278 | TATATATA others(49): Show |
T | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0007 | 1 | 114 | 0.0088 | -56 | c.75+ others(73): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |