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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PXDN_chr2_1626887_1749515 | 1710825 | T | TCTCCACC others(8): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01516.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0004 | a0001c0001t0002g0031 a0001c0004t0004g0121 |
2 | 322 | 0.0062 | 15 | c.201 others(34): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1711173 | T | TCTCCACC others(8): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03486.hp1 |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0012 | a0001c0003t0002g0124 a0001c0003t0012g0123 |
2 | 322 | 0.0062 | 15 | c.201 others(34): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1711457 | T | TCTCCACC others(8): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0006 | a0001c0006t0027 | a0001c0006t0027g0303 | 1 | 322 | 0.0031 | 15 | c.201 others(34): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1711472 | G | GCTCCACC others(8): Show |
intron_variant | MODIFIER | HG01928.hp2 HG02055.hp2 HG02109.hp1 others(11): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(8): Show | a0001c0001t0001g0138 a0001c0001t0001g0157 a0001c0001t0001g0167 others(11): Show |
14 | 322 | 0.0435 | 15 | c.201 others(34): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1711534 | A | ACTCTACC others(8): Show |
intron_variant | MODIFIER | HG03139.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0013 | a0001c0001t0021a0001c0013t0001 | a0001c0001t0021g0159 a0001c0013t0001g0162 |
2 | 322 | 0.0062 | 15 | c.201 others(34): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1711568 | T | TCTCCACC others(8): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0270 | 1 | 322 | 0.0031 | 15 | c.201 others(34): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXK_chr3_58327892_58431127 | 58336072 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02486.hp2 NA18939.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0028 a0001c0001t0001g0169 a0001c0001t0007g0043 |
3 | 300 | 0.0100 | 15 | c.102 others(32): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 1/17 | chr3 | TogoVar | |||||||
PXK_chr3_58327892_58431127 | 58378512 | T | TTTGTGTG others(8): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 300 | 0.0033 | 15 | c.202 others(32): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXK_chr3_58327892_58431127 | 58378512 | T | TTTTTGTG others(8): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 300 | 0.0033 | 15 | c.202 others(32): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXK_chr3_58327892_58431127 | 58378512 | T | TTTTTTTG others(8): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00735.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0162 a0001c0001t0001g0163 others(13): Show |
17 | 300 | 0.0567 | 15 | c.202 others(32): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXK_chr3_58327892_58431127 | 58378512 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 300 | 0.0033 | 15 | c.202 others(32): Show |
PXK | ENSG00000168297.16 | transcript | ENST00000356151.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132687721 | G | GCCGCGGC others(8): Show |
conservative_inframe_insertion | MODERATE | HG03139.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0051 | 1 | 350 | 0.0029 | 15 | c.52_ others(20): Show |
p.Pro others(11): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 1/5 | 151/970 | 67/588 | 23/195 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
PXMP4_chr20_33697758_33725310 | 33717639 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0126 | 1 | 388 | 0.0026 | 15 | c.113 others(32): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
PXT1_chr6_36385551_36447854 | 36425800 | C | CAAAAACA others(8): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 390 | 0.0026 | 15 | c.169 others(30): Show |
PXT1 | ENSG00000179165.12 | transcript | ENST00000454782.3 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
PXT1_chr6_36385551_36447854 | 36428416 | G | GAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01123.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 others(13): Show |
16 | 390 | 0.0410 | 15 | c.-9- others(30): Show |
PXT1 | ENSG00000179165.12 | transcript | ENST00000454782.3 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
PYDC2_chr3_191456163_191466456 | 191463000 | T | TTTCTTTC others(8): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 HG03209.hp2 NA19082.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 434 | 0.0092 | 15 | c.*15 others(26): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1545 | chr3 | TogoVar | |||||||
PYDC2_chr3_191456163_191466456 | 191463020 | C | CTCTCTCT others(8): Show |
downstream_gene_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 434 | 0.0023 | 15 | c.*15 others(26): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1565 | chr3 | TogoVar | |||||||
PYDC2_chr3_191456163_191466456 | 191463063 | T | TTTCTTTC others(8): Show |
downstream_gene_variant | MODIFIER | NA19002.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 434 | 0.0023 | 15 | c.*16 others(26): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1608 | chr3 | TogoVar | |||||||
PYGB_chr20_25243085_25303012 | 25253623 | T | TAAATAAA others(8): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01943.hp1 HG02056.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0002others(3): Show | a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 others(15): Show |
18 | 372 | 0.0484 | 15 | c.243 others(32): Show |
PYGB | ENSG00000100994.12 | transcript | ENST00000216962.9 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PYGL_chr14_50900217_50949483 | 50942822 | C | CAAACAAA others(8): Show |
intron_variant | MODIFIER | HG02300.hp2 HG03669.hp1 NA19079.hp1 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0202 a0001c0005t0002g0203 a0001c0005t0002g0204 |
3 | 390 | 0.0077 | 15 | c.243 others(32): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 1/19 | chr14 | TogoVar | |||||||
PYGO1_chr15_55533884_55593345 | 55576760 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0053 | a0001c0001t0001g0296 a0001c0001t0053g0297 |
2 | 412 | 0.0049 | 15 | c.49+ others(32): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
PYHIN1_chr1_158926552_158982059 | 158942797 | G | GTTCTTTG others(8): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0006 | a0006c0007 | a0006c0007t0002 | a0006c0007t0002g0128 | 1 | 398 | 0.0025 | 15 | c.100 others(32): Show |
PYHIN1 | ENSG00000163564.15 | transcript | ENST00000368140.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PYURF_chr4_88515998_88528776 | 88516483 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 446 | 0.0022 | 15 | c.*54 others(26): Show |
PYURF | ENSG00000145337.5 | transcript | ENST00000273968.5 | protein_coding | 4514 | chr4 | TogoVar | |||||||
PYY_chr17_43947733_43958940 | 43958135 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00733.hp2 others(43): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0006 a0002c0002t0001g0001 |
46 | 364 | 0.1264 | 15 | c.-43 others(26): Show |
PYY | ENSG00000131096.11 | transcript | ENST00000692052.1 | protein_coding | 4196 | chr17 | TogoVar | |||||||
PZP_chr12_9143840_9213395 | 9185790 | A | ATTTCTTT others(8): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02717.hp1 HG02886.hp1 others(9): Show |
a0001a0002a0006others(4): Show | a0001c0001a0002c0002a0006c0007others(4): Show | a0001c0001t0001a0002c0002t0001a0006c0007t0001others(4): Show | a0001c0001t0001g0074 a0002c0002t0001g0117 a0002c0002t0001g0130 others(9): Show |
12 | 334 | 0.0359 | 15 | c.154 others(34): Show |
PZP | ENSG00000126838.10 | transcript | ENST00000261336.7 | protein_coding | 13/35 | chr12 | TogoVar | |||||||
QARS1_chr3_49090932_49109757 | 49096798 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG02559.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0011 | a0001c0001t0001a0001c0002t0001a0003c0011t0001 | a0001c0001t0001g0050 a0001c0001t0001g0067 a0001c0001t0001g0077 others(2): Show |
5 | 284 | 0.0176 | 15 | c.227 others(32): Show |
QARS1 | ENSG00000172053.18 | transcript | ENST00000306125.12 | protein_coding | 23/23 | chr3 | TogoVar | |||||||
QKI_chr6_163409718_163583592 | 163572670 | A | ACCCCCCC others(8): Show |
3_prime_UTR_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0096 | 1 | 302 | 0.0033 | 15 | c.*19 others(26): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 8/8 | 1972 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
QPCT_chr2_37339630_37378322 | 37347164 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0127 | 1 | 442 | 0.0023 | 15 | c.120 others(32): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | chr2 | TogoVar | |||||||
QPCT_chr2_37339630_37378322 | 37358438 | C | CAACAAAA others(8): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01106.hp1 HG01243.hp1 others(41): Show |
a0001a0004 | a0001c0003a0004c0005 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0003t0001g0027 a0001c0003t0001g0132 a0001c0003t0001g0140 others(40): Show |
44 | 442 | 0.0996 | 15 | c.268 others(32): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121380186 | G | GAGAGAGA others(8): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0153 | 1 | 384 | 0.0026 | 15 | c.340 others(30): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
QRFPR_chr4_121323642_121386018 | 121380186 | G | GGAGAGAG others(8): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0306 | 1 | 384 | 0.0026 | 15 | c.340 others(30): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
QRICH1_chr3_49024707_49099071 | 49034079 | T | TTTATTAT others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02451.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0033 others(1): Show |
4 | 226 | 0.0177 | 15 | c.178 others(32): Show |
QRICH1 | ENSG00000198218.12 | transcript | ENST00000395443.7 | protein_coding | 6/9 | chr3 | TogoVar | |||||||
QRICH1_chr3_49024707_49099071 | 49050248 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02965.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0155 a0001c0001t0001g0156 others(2): Show |
5 | 226 | 0.0221 | 15 | c.133 others(34): Show |
QRICH1 | ENSG00000198218.12 | transcript | ENST00000395443.7 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
QRICH1_chr3_49024707_49099071 | 49087818 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01981.hp1 HG01981.hp2 HG02074.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0091 a0001c0001t0001g0148 a0001c0001t0001g0157 others(4): Show |
7 | 226 | 0.0310 | 15 | c.-22 others(32): Show |
QRICH1 | ENSG00000198218.12 | transcript | ENST00000395443.7 | protein_coding | 1/9 | chr3 | TogoVar | |||||||
QRICH1_chr3_49024707_49099071 | 49096798 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG01168.hp2 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0204 a0001c0001t0001g0213 |
3 | 226 | 0.0133 | 15 | c.-29 others(26): Show |
QRICH1 | ENSG00000198218.12 | transcript | ENST00000395443.7 | protein_coding | 2728 | chr3 | TogoVar | |||||||
QRICH2_chr17_76269049_76313276 | 76284168 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02895.hp2 HG03098.hp1 others(2): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0168 a0003c0003t0001g0176 a0003c0003t0001g0177 others(2): Show |
5 | 364 | 0.0137 | 15 | c.401 others(34): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 7/18 | chr17 | TogoVar | |||||||
QRICH2_chr17_76269049_76313276 | 76285125 | C | CTGTTGTT others(8): Show |
intron_variant | MODIFIER | HG02818.hp2 NA19240.hp2 NA20300.hp2 |
a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0226 a0007c0010t0001g0228 a0007c0010t0001g0230 |
3 | 364 | 0.0082 | 15 | c.401 others(34): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 7/18 | chr17 | TogoVar | |||||||
QRICH2_chr17_76269049_76313276 | 76297880 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 364 | 0.0028 | 15 | c.706 others(32): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 3/18 | chr17 | TogoVar | |||||||
QSER1_chr11_32887811_32985270 | 32892843 | G | GGCCGCCG others(8): Show |
5_prime_UTR_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0074 | 1 | 236 | 0.0042 | 15 | c.-27 others(24): Show |
QSER1 | ENSG00000060749.17 | transcript | ENST00000650167.2 | protein_coding | 1/13 | 263 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
QSER1_chr11_32887811_32985270 | 32965944 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 236 | 0.0042 | 15 | c.497 others(32): Show |
QSER1 | ENSG00000060749.17 | transcript | ENST00000650167.2 | protein_coding | 8/12 | chr11 | TogoVar | |||||||
R3HDM1_chr2_135526484_135730269 | 135537608 | C | CTTATTTT others(8): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 232 | 0.0043 | 15 | c.-25 others(34): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135699075 | T | TAGATAGA others(8): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0010 | 1 | 232 | 0.0043 | 15 | c.246 others(36): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | chr2 | TogoVar | |||||||
R3HDM2_chr12_57248764_57436043 | 57249905 | A | ACTACCTG others(8): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0008 | a0001c0005t0004g0144 a0001c0005t0008g0146 |
2 | 336 | 0.0060 | 15 | c.*48 others(26): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 3858 | chr12 | TogoVar | |||||||
R3HDM2_chr12_57248764_57436043 | 57320261 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01361.hp2 HG01928.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0018 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0199 a0001c0001t0001g0283 a0001c0001t0001g0303 others(22): Show |
25 | 336 | 0.0744 | 15 | c.-35 others(32): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | |||||||
R3HDM2_chr12_57248764_57436043 | 57371083 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0305 | 1 | 336 | 0.0030 | 15 | c.-36 others(34): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | |||||||
R3HDM4_chr19_891503_918219 | 892938 | G | GCCCCGCG others(8): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 432 | 0.0023 | 15 | c.*44 others(26): Show |
R3HDM4 | ENSG00000198858.10 | transcript | ENST00000361574.10 | protein_coding | 3564 | chr19 | TogoVar | |||||||
R3HDM4_chr19_891503_918219 | 906809 | T | TTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00558.hp2 others(54): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0040 others(49): Show |
57 | 432 | 0.1319 | 15 | c.72- others(30): Show |
R3HDM4 | ENSG00000198858.10 | transcript | ENST00000361574.10 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
R3HDML_chr20_44332043_44356238 | 44348482 | C | CTCCTTTC others(8): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02293.hp1 HG02683.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0085 others(4): Show |
11 | 434 | 0.0254 | 15 | c.630 others(32): Show |
R3HDML | ENSG00000101074.5 | transcript | ENST00000217043.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
R3HDML_chr20_44332043_44356238 | 44349146 | T | TAAATAAA others(8): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02976.hp1 HG03098.hp1 others(1): Show |
a0001a0002 | a0001c0004a0002c0003a0002c0005 | a0001c0004t0001a0002c0003t0002a0002c0005t0002 | a0001c0004t0001g0203 a0002c0003t0002g0186 a0002c0005t0002g0177 others(1): Show |
4 | 434 | 0.0092 | 15 | c.630 others(32): Show |
R3HDML | ENSG00000101074.5 | transcript | ENST00000217043.4 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RAB10_chr2_26029084_26142454 | 26114737 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03041.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 a0001c0001t0004g0005 a0001c0001t0004g0009 others(2): Show |
5 | 212 | 0.0236 | 15 | c.327 others(32): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |