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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PUS7_chr7_105451503_105527271 | 105456102 | T | TATATATA others(17): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0201 |
2 | 350 | 0.0057 | 24 | c.*16 others(35): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 400 | chr7 | TogoVar | |||||||
PUS7_chr7_105451503_105527271 | 105515791 | T | TTTTATTT others(17): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01884.hp1 HG02451.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0038 a0001c0001t0001g0265 a0001c0001t0001g0266 others(2): Show |
5 | 350 | 0.0143 | 24 | c.-33 others(41): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
PVR_chr19_44638910_44671162 | 44645415 | G | GTATATAT others(17): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 412 | 0.0024 | 24 | c.79+ others(39): Show |
PVR | ENSG00000073008.16 | transcript | ENST00000425690.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PWWP2A_chr5_160086339_160124450 | 160092013 | G | GATATATA others(17): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00609.hp1 others(22): Show |
a0001a0006 | a0001c0001a0001c0003a0006c0011 | a0001c0001t0006a0001c0001t0020a0001c0001t0029others(3): Show | a0001c0001t0006g0007 a0001c0001t0006g0013 a0001c0001t0006g0020 others(22): Show |
25 | 384 | 0.0651 | 24 | c.*36 others(33): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 2/2 | 368 | chr5 | TogoVar | ||||||
PWWP2B_chr10_132392200_132422859 | 132392490 | A | ATAATGGT others(17): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0003 | a0003c0024 | a0003c0024t0001 | a0003c0024t0001g0162 | 1 | 374 | 0.0027 | 24 | c.-47 others(35): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4709 | chr10 | TogoVar | |||||||
PWWP2B_chr10_132392200_132422859 | 132397575 | C | CCGGGGCG others(17): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0256 | 1 | 374 | 0.0027 | 24 | c.125 others(39): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PXDNL_chr8_51314577_51814445 | 51452935 | A | AACACATA others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02615.hp1 HG02630.hp2 others(5): Show |
a0004a0016a0027others(1): Show | a0004c0004a0004c0042a0016c0016others(2): Show | a0004c0004t0001a0004c0042t0001a0016c0016t0001others(2): Show | a0004c0004t0001g0049 a0004c0004t0001g0050 a0004c0004t0001g0065 others(5): Show |
8 | 122 | 0.0656 | 24 | c.124 others(41): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 10/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51452937 | C | CACATACA others(17): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00741.hp1 HG01109.hp1 others(21): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0020others(12): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(15): Show | a0001c0001t0002g0101 a0002c0002t0001g0023 a0002c0002t0001g0053 others(21): Show |
24 | 122 | 0.1967 | 24 | c.124 others(41): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 10/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51538109 | C | CGGTGAAA others(17): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0023 | 1 | 122 | 0.0082 | 24 | c.380 others(43): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51553771 | T | TATATATA others(17): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02897.hp1 NA18522.hp1 |
a0004a0010a0027 | a0004c0004a0010c0011a0027c0023 | a0004c0004t0003a0010c0011t0003a0027c0023t0003 | a0004c0004t0003g0001 a0010c0011t0003g0012 a0027c0023t0003g0004 |
3 | 122 | 0.0246 | 24 | c.380 others(41): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 4/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51581493 | C | CTAAATAA others(17): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0015 | a0015c0045 | a0015c0045t0001 | a0015c0045t0001g0061 | 1 | 122 | 0.0082 | 24 | c.308 others(43): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51581513 | A | ATAAATAA others(17): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01884.hp2 HG02615.hp1 others(5): Show |
a0004a0010a0027 | a0004c0004a0010c0011a0027c0023 | a0004c0004t0001a0004c0004t0003a0010c0011t0003others(1): Show | a0004c0004t0001g0037 a0004c0004t0001g0049 a0004c0004t0001g0050 others(5): Show |
8 | 122 | 0.0656 | 24 | c.308 others(43): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51607887 | A | AGGAAGGA others(17): Show |
intron_variant | MODIFIER | HG03486.hp2 NA19030.hp2 |
a0003a0010 | a0003c0005a0010c0011 | a0003c0005t0001a0010c0011t0001 | a0003c0005t0001g0041 a0010c0011t0001g0038 |
2 | 122 | 0.0164 | 24 | c.237 others(43): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51644318 | T | TTATATAT others(17): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02818.hp1 NA18956.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0089 a0001c0001t0002g0102 a0002c0002t0001g0073 others(1): Show |
4 | 122 | 0.0328 | 24 | c.236 others(43): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51683164 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0005 | a0005c0017 | a0005c0017t0001 | a0005c0017t0001g0085 | 1 | 122 | 0.0082 | 24 | c.165 others(43): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51743908 | A | AAAGGAAG others(17): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG01070.hp2 others(11): Show |
a0001a0003a0004others(7): Show | a0001c0001a0003c0003a0003c0005others(8): Show | a0001c0001t0002a0003c0003t0001a0003c0005t0003others(8): Show | a0001c0001t0002g0097 a0001c0001t0002g0102 a0001c0001t0002g0103 others(11): Show |
14 | 122 | 0.1148 | 24 | c.164 others(43): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1658083 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0038 | 1 | 322 | 0.0031 | 24 | c.183 others(43): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 14/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1720249 | G | GATGCAGA others(17): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0006 | a0001c0006t0027 | a0001c0006t0027g0303 | 1 | 322 | 0.0031 | 24 | c.200 others(43): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXMP2_chr12_132682587_132709985 | 132693201 | A | AGCCAGTT others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00639.hp1 others(16): Show |
a0001 | a0001c0003a0001c0008 | a0001c0003t0003a0001c0008t0003 | a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0042 others(13): Show |
19 | 350 | 0.0543 | 24 | c.237 others(41): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132693484 | C | CAGTTAGT others(17): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG01168.hp1 others(12): Show |
a0001 | a0001c0003a0001c0008 | a0001c0003t0003a0001c0008t0003 | a0001c0003t0003g0040 a0001c0003t0003g0041 a0001c0003t0003g0044 others(9): Show |
15 | 350 | 0.0429 | 24 | c.237 others(41): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXMP2_chr12_132682587_132709985 | 132693577 | C | CAGTTAGT others(17): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01934.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0088 a0001c0001t0001g0094 others(1): Show |
6 | 350 | 0.0171 | 24 | c.237 others(41): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXMP4_chr20_33697758_33725310 | 33717639 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0205 | 1 | 388 | 0.0026 | 24 | c.113 others(41): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 1/3 | chr20 | TogoVar | |||||||
PXYLP1_chr3_141226825_141299924 | 141267870 | T | TCTCTCTC others(17): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0324 a0001c0001t0005g0246 |
2 | 384 | 0.0052 | 24 | c.79+ others(39): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PYCARD_chr16_31196486_31207760 | 31205946 | T | TTTTCTTT others(17): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG01981.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 354 | 0.0085 | 24 | c.-32 others(35): Show |
PYCARD | ENSG00000103490.14 | transcript | ENST00000247470.10 | protein_coding | 3187 | chr16 | TogoVar | |||||||
PYCR2_chr1_225914878_225929250 | 225925498 | T | TTTTATTT others(17): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 448 | 0.0022 | 24 | c.-13 others(35): Show |
PYCR2 | ENSG00000143811.20 | transcript | ENST00000343818.11 | protein_coding | 1249 | chr1 | TogoVar | |||||||
PYCR2_chr1_225914878_225929250 | 225925524 | T | TTATTTAT others(17): Show |
upstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 | 1 | 448 | 0.0022 | 24 | c.-14 others(35): Show |
PYCR2 | ENSG00000143811.20 | transcript | ENST00000343818.11 | protein_coding | 1275 | chr1 | TogoVar | |||||||
PYDC2_chr3_191456163_191466456 | 191462994 | T | TTTCTTTT others(17): Show |
downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 434 | 0.0023 | 24 | c.*15 others(35): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1539 | chr3 | TogoVar | |||||||
PYDC2_chr3_191456163_191466456 | 191463020 | C | CTCTTTCT others(17): Show |
downstream_gene_variant | MODIFIER | HG02027.hp1 HG03130.hp2 NA19054.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 3 | 434 | 0.0069 | 24 | c.*15 others(35): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1565 | chr3 | TogoVar | |||||||
PYDC2_chr3_191456163_191466456 | 191463090 | T | TCTCCCTC others(17): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01070.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 51 | 434 | 0.1175 | 24 | c.*16 others(35): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1635 | chr3 | TogoVar | |||||||
PYGL_chr14_50900217_50949483 | 50914496 | C | CAATAATA others(17): Show |
intron_variant | MODIFIER | HG01361.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0212 a0001c0003t0002g0061 |
2 | 390 | 0.0051 | 24 | c.151 others(41): Show |
PYGL | ENSG00000100504.17 | transcript | ENST00000216392.8 | protein_coding | 12/19 | chr14 | TogoVar | |||||||
PYGO1_chr15_55533884_55593345 | 55568320 | C | CTGTGTGT others(17): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0047 | a0001c0001t0011g0019 a0001c0001t0047g0022 |
2 | 412 | 0.0049 | 24 | c.50- others(41): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
PYROXD2_chr10_98378568_98420182 | 98386323 | G | GAGGAAGG others(17): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0260 others(4): Show |
7 | 418 | 0.0168 | 24 | c.155 others(41): Show |
PYROXD2 | ENSG00000119943.13 | transcript | ENST00000370575.5 | protein_coding | 14/15 | chr10 | TogoVar | |||||||
PYY_chr17_43947733_43958940 | 43958135 | C | CAAAAAAA others(17): Show |
upstream_gene_variant | MODIFIER | HG02965.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0005 | 1 | 364 | 0.0028 | 24 | c.-42 others(35): Show |
PYY | ENSG00000131096.11 | transcript | ENST00000692052.1 | protein_coding | 4196 | chr17 | TogoVar | |||||||
QARS1_chr3_49090932_49109757 | 49096798 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 284 | 0.0035 | 24 | c.227 others(41): Show |
QARS1 | ENSG00000172053.18 | transcript | ENST00000306125.12 | protein_coding | 23/23 | chr3 | TogoVar | |||||||
QPCT_chr2_37339630_37378322 | 37370712 | A | AGGTCAGG others(17): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0006 | a0006c0008 | a0006c0008t0006 | a0006c0008t0006g0337 | 1 | 442 | 0.0023 | 24 | c.823 others(39): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121323977 | C | CATATATA others(17): Show |
downstream_gene_variant | MODIFIER | NA19075.hp2 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0354 | 1 | 384 | 0.0026 | 24 | c.*53 others(35): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 4664 | chr4 | TogoVar | |||||||
QRFPR_chr4_121323642_121386018 | 121380186 | G | GGAGAGAG others(17): Show |
intron_variant | MODIFIER | HG01099.hp2 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0025 | a0001c0001t0002g0323 a0001c0001t0025g0322 |
2 | 384 | 0.0052 | 24 | c.340 others(39): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
QRICH1_chr3_49024707_49099071 | 49050248 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0142 |
2 | 226 | 0.0089 | 24 | c.133 others(43): Show |
QRICH1 | ENSG00000198218.12 | transcript | ENST00000395443.7 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
QRICH2_chr17_76269049_76313276 | 76285125 | C | CTGTTGTT others(17): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0219 | 1 | 364 | 0.0028 | 24 | c.401 others(43): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 7/18 | chr17 | TogoVar | |||||||
QRICH2_chr17_76269049_76313276 | 76287043 | A | AACACACA others(17): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02293.hp2 HG03209.hp1 others(3): Show |
a0001a0003a0024 | a0001c0005a0003c0003a0024c0034 | a0001c0005t0001a0003c0003t0001a0024c0034t0001 | a0001c0005t0001g0185 a0001c0005t0001g0207 a0003c0003t0001g0193 others(3): Show |
6 | 364 | 0.0165 | 24 | c.401 others(41): Show |
QRICH2 | ENSG00000129646.16 | transcript | ENST00000680821.2 | protein_coding | 7/18 | chr17 | TogoVar | |||||||
QSER1_chr11_32887811_32985270 | 32964717 | C | CATATATA others(17): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0231 | 1 | 236 | 0.0042 | 24 | c.497 others(43): Show |
QSER1 | ENSG00000060749.17 | transcript | ENST00000650167.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135626205 | G | GTGCTTGC others(17): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 232 | 0.0043 | 24 | c.497 others(41): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135626205 | G | GTGTGTGC others(17): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 232 | 0.0043 | 24 | c.497 others(41): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135626209 | G | GTGCTTGC others(17): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(1): Show |
4 | 232 | 0.0172 | 24 | c.497 others(41): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135626209 | G | GTGTGTGC others(17): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01978.hp1 HG01981.hp2 others(17): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0046 a0002c0002t0001g0028 a0003c0003t0001g0014 others(17): Show |
20 | 232 | 0.0862 | 24 | c.497 others(41): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
R3HDM1_chr2_135526484_135730269 | 135699075 | T | TTAGATAG others(17): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03491.hp1 HG03669.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0052 a0002c0002t0001g0058 a0002c0002t0001g0100 others(7): Show |
10 | 232 | 0.0431 | 24 | c.246 others(45): Show |
R3HDM1 | ENSG00000048991.18 | transcript | ENST00000683871.1 | protein_coding | 21/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57260263 | C | CAAAAAAA others(17): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 336 | 0.0030 | 24 | c.213 others(43): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 19/23 | chr12 | TogoVar | |||||||
R3HDM2_chr12_57248764_57436043 | 57360006 | A | AATAAATA others(17): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0143 | 1 | 336 | 0.0030 | 24 | c.-36 others(43): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | |||||||
R3HDM2_chr12_57248764_57436043 | 57377078 | C | CTAAATAA others(17): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 336 | 0.0030 | 24 | c.-36 others(43): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 2/23 | chr12 | TogoVar | |||||||
RAB10_chr2_26029084_26142454 | 26057620 | T | TTTCATTC others(17): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01074.hp1 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0019 a0001c0001t0001g0097 a0001c0001t0001g0099 others(36): Show |
39 | 212 | 0.1840 | 24 | c.127 others(43): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |