| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ARHGEF10_chr8_1818926_1963641 | 1888885 | GGAGACAC others(1139): Show |
G | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0161 | 1 | 363 | 0.0028 | -1146 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| GXYLT1_chr12_42076845_42149874 | 42112735 | GAACTTCC others(1139): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02559.hp1 HG02615.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011a0001c0001t0037others(1): Show | a0001c0001t0009g0003a0001c0001t0009g0254a0001c0001t0009g0255others(7): Show | 12 | 398 | 0.0302 | -1146 | c.487 others(17): Show |
GXYLT1 | ENSG00000151233.11 | transcript | ENST00000398675.8 | protein_coding | 3/7 | chr12 | TogoVar | ||||||
| SCML2_chrX_18234313_18359688 | 18261191 | TCTTGCTA others(1139): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226a0001c0001t0001g0228a0001c0001t0001g0230others(3): Show | 6 | 247 | 0.0243 | -1146 | c.949 others(16): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 8/14 | chrX | TogoVar | ||||||
| SLC9A9_chr3_143260222_143853468 | 143431639 | GCCCGGCT others(1139): Show |
G | intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0050 | 1 | 108 | 0.0093 | -1146 | c.146 others(21): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 12/15 | chr3 | TogoVar | ||||||
| SCML2_chrX_18234313_18359688 | 18261191 | TCTTGCTA others(1138): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02572.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229a0001c0001t0001g0231a0001c0001t0001g0232 | 3 | 247 | 0.0122 | -1145 | c.949 others(16): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 8/14 | chrX | TogoVar | ||||||
| DPP6_chr7_154047398_154899285 | 154660540 | GTTCATAT others(1137): Show |
G | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0015 | a0001c0015t0017 | a0001c0015t0017g0036 | 1 | 38 | 0.0263 | -1144 | c.681 others(17): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| MYT1_chr20_64159452_64247253 | 64174083 | CCTGTAGC others(1137): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 223 | 0.0045 | -1144 | c.-99 others(18): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| SCML2_chrX_18234313_18359688 | 18261193 | TTGCTATG others(1137): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 247 | 0.0041 | -1144 | c.949 others(16): Show |
SCML2 | ENSG00000102098.19 | transcript | ENST00000251900.9 | protein_coding | 8/14 | chrX | TogoVar | ||||||
| ZNF516_chr18_76352682_76500242 | 76393094 | GGGCAGGT others(1137): Show |
G | intron_variant | MODIFIER | NA20905.hp2 | a0004 | a0004c0010 | a0004c0010t0036 | a0004c0010t0036g0145 | 1 | 346 | 0.0029 | -1144 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| CLPTM1_chr19_44950380_44998341 | 44969848 | CGGCTAAT others(1136): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG00735.hp1 others(28): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(2): Show | a0001c0001t0001g0015a0001c0001t0001g0043a0001c0001t0001g0044others(25): Show | 31 | 374 | 0.0829 | -1143 | c.186 others(17): Show |
CLPTM1 | ENSG00000104853.16 | transcript | ENST00000337392.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393156 | GGGGGGAA others(1136): Show |
G | intron_variant | MODIFIER | HG03688.hp1 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0024a0001c0001t0020g0035 | 2 | 346 | 0.0058 | -1143 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| CERS6_chr2_168451272_168780134 | 168730615 | CTTACTGT others(1135): Show |
C | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0045 | 1 | 176 | 0.0057 | -1142 | c.845 others(19): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FAM149A_chr4_186099704_186180337 | 186175905 | CTGGAATG others(1134): Show |
C | downstream_gene_variant | MODIFIER | NA18970.hp2 NA19062.hp1 |
a0006 | a0006c0023 | a0006c0023t0001a0006c0023t0080 | a0006c0023t0001g0126a0006c0023t0080g0127 | 2 | 390 | 0.0051 | -1141 | c.*39 others(11): Show |
FAM149A | ENSG00000109794.14 | transcript | ENST00000706927.1 | protein_coding | 569 | chr4 | TogoVar | ||||||
| ANKRD55_chr5_56094680_56238330 | 56133379 | TAGTGAGC others(1133): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(112): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0016others(111): Show | 115 | 308 | 0.3734 | -1140 | c.613 others(17): Show |
ANKRD55 | ENSG00000164512.18 | transcript | ENST00000341048.9 | protein_coding | 7/11 | chr5 | TogoVar | ||||||
| C1orf159_chr1_1076823_1121089 | 1077283 | TCTATGGG others(1133): Show |
T | downstream_gene_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 326 | 0.0031 | -1140 | c.*44 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4539 | chr1 | TogoVar | ||||||
| C1orf159_chr1_1076823_1121089 | 1077301 | CGGGAGGC others(1133): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0302 | 1 | 326 | 0.0031 | -1140 | c.*44 others(11): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4521 | chr1 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 948506 | CGACAGAG others(1133): Show |
C | intron_variant | MODIFIER | HG02280.hp2 | a0022 | a0022c0042 | a0022c0042t0001 | a0022c0042t0001g0084 | 1 | 294 | 0.0034 | -1140 | c.503 others(17): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
| MAP2_chr2_209419047_209739112 | 209540495 | GTGGCACG others(1133): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02257.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0013others(1): Show | a0001c0001t0033a0001c0003t0006a0001c0003t0018others(5): Show | a0001c0001t0033g0007a0001c0003t0006g0003a0001c0003t0006g0004others(11): Show | 14 | 148 | 0.0946 | -1140 | c.-17 others(21): Show |
MAP2 | ENSG00000078018.22 | transcript | ENST00000682079.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PARN_chr16_14430701_14635260 | 14455613 | AAAACTTA others(1133): Show |
A | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0156 | 1 | 169 | 0.0059 | -1140 | c.167 others(19): Show |
PARN | ENSG00000140694.18 | transcript | ENST00000437198.7 | protein_coding | 22/23 | chr16 | TogoVar | ||||||
| RNF223_chr1_1065967_1079306 | 1077283 | TCTATGGG others(1133): Show |
T | upstream_gene_variant | MODIFIER | HG02300.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 324 | 0.0062 | -1140 | c.-44 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 2978 | chr1 | TogoVar | ||||||
| RNF223_chr1_1065967_1079306 | 1077301 | CGGGAGGC others(1133): Show |
C | upstream_gene_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0008 | 1 | 324 | 0.0031 | -1140 | c.-44 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 2996 | chr1 | TogoVar | ||||||
| SAMD3_chr6_130139315_130227951 | 130185681 | TGTGCAGT others(1133): Show |
T | intron_variant | MODIFIER | HG03710.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138a0001c0001t0002g0227 | 2 | 338 | 0.0059 | -1140 | c.384 others(17): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 5/11 | chr6 | TogoVar | ||||||
| ADGRL3_chr4_61195326_62083335 | 61418421 | GTTTTGTC others(1132): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp2 HG02735.hp1 others(1): Show |
a0001 | a0001c0002a0001c0006a0001c0017 | a0001c0002t0030a0001c0002t0034a0001c0006t0006others(1): Show | a0001c0002t0030g0055a0001c0002t0034g0054a0001c0006t0006g0033others(1): Show | 4 | 58 | 0.0690 | -1139 | c.-17 others(21): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 2/26 | chr4 | TogoVar | ||||||
| DHRSX_chrX_2214506_2505976 | 2278993 | AGAGGGAG others(1132): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 50 | 0.0200 | -1139 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | ||||||
| NXN_chr17_794310_984776 | 820561 | GAGATCGT others(1132): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(155): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0015others(155): Show | 158 | 242 | 0.6529 | -1139 | c.713 others(16): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 4/7 | chr17 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744682 | CGAGCAGG others(1132): Show |
C | intron_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0002 | a0002c0002t0016 | a0002c0002t0016g0078 | 1 | 366 | 0.0027 | -1139 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76393499 | AGGTGGTC others(1132): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02809.hp2 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0072a0001c0006t0058a0001c0006t0061 | a0001c0004t0072g0113a0001c0006t0058g0104a0001c0006t0061g0112 | 3 | 346 | 0.0087 | -1139 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 745044 | CGGGGGTC others(1131): Show |
C | intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 366 | 0.0027 | -1138 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745410 | TCCGTGGA others(1131): Show |
T | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0342 | 1 | 366 | 0.0027 | -1138 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745467 | TCCGTGGA others(1131): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 366 | 0.0027 | -1138 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745866 | TCCGTGGA others(1131): Show |
T | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0363 | 1 | 366 | 0.0027 | -1138 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745439 | CCCGGGGG others(1130): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0117 | 1 | 366 | 0.0027 | -1137 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 745496 | CCCCGGGG others(1130): Show |
C | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 366 | 0.0027 | -1137 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 746412 | GGGGTCGC others(1130): Show |
G | intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0127 | 1 | 366 | 0.0027 | -1137 | c.462 others(17): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PPP4R4_chr14_94169322_94284734 | 94172401 | AAGACCAC others(1130): Show |
A | upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 307 | 0.0033 | -1137 | c.-20 others(10): Show |
PPP4R4 | ENSG00000119698.12 | transcript | ENST00000304338.8 | protein_coding | 1920 | chr14 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 745099 | CCCCGGGG others(1129): Show |
C | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0015 | 1 | 366 | 0.0027 | -1136 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PTPRA_chr20_2868481_3043669 | 3032576 | GCCAACAT others(1129): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0284 | 1 | 356 | 0.0028 | -1136 | c.192 others(19): Show |
PTPRA | ENSG00000132670.21 | transcript | ENST00000399903.7 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| ZNF516_chr18_76352682_76500242 | 76392812 | AAGGCAGG others(1129): Show |
A | intron_variant | MODIFIER | NA18973.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0212a0001c0001t0005g0288 | 2 | 346 | 0.0058 | -1136 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | ||||||
| ANKRD33B_chr5_10559070_10662816 | 10638958 | AGTTGCAC others(1128): Show |
A | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0217 | 1 | 324 | 0.0031 | -1135 | c.637 others(16): Show |
ANKRD33B | ENSG00000164236.12 | transcript | ENST00000296657.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| MYT1L_chr2_1784113_2336275 | 2174558 | GTGGAGAC others(1128): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG03209.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0010a0001c0003t0010a0001c0005t0011 | a0001c0001t0010g0034a0001c0003t0010g0096a0001c0005t0011g0074 | 3 | 104 | 0.0289 | -1135 | c.-42 others(19): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 2/24 | chr2 | TogoVar | ||||||
| SHROOM4_chrX_50581796_50819194 | 50717579 | TGTATTCT others(1128): Show |
T | intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0027 | 1 | 175 | 0.0057 | -1135 | c.118 others(19): Show |
SHROOM4 | ENSG00000158352.18 | transcript | ENST00000376020.9 | protein_coding | 1/8 | chrX | TogoVar | ||||||
| BRSK2_chr11_1384934_1467689 | 1429644 | CGGTCTGG others(1127): Show |
C | intron_variant | MODIFIER | HG01993.hp2 HG02273.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0004a0001c0016t0018 | a0001c0001t0004g0175a0001c0001t0004g0180a0001c0016t0018g0183 | 3 | 360 | 0.0083 | -1134 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BRSK2_chr11_1384934_1467689 | 1431418 | TCAGCAGT others(1127): Show |
T | intron_variant | MODIFIER | HG01175.hp2 NA18963.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0065a0002c0002t0005 | a0001c0001t0065g0256a0002c0002t0005g0276 | 2 | 360 | 0.0056 | -1134 | c.92- others(15): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PTPRA_chr20_2868481_3043669 | 3032499 | GGCTCACG others(1127): Show |
G | intron_variant | MODIFIER | HG02602.hp1 HG03710.hp2 NA20752.hp2 |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0006t0001 | a0001c0003t0001g0198a0001c0003t0001g0203a0001c0006t0001g0217 | 3 | 356 | 0.0084 | -1134 | c.192 others(19): Show |
PTPRA | ENSG00000132670.21 | transcript | ENST00000399903.7 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114084347 | CTCCTCGC others(1127): Show |
C | intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 67 | 0.0149 | -1134 | c.56- others(17): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
| ATP11A_chr13_112685038_112892168 | 112787325 | TGGAGACC others(1126): Show |
T | intron_variant | MODIFIER | HG02895.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0157a0001c0001t0023g0158 | 2 | 254 | 0.0079 | -1133 | c.162 others(17): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CNTN6_chr3_1088024_1409217 | 1323889 | AAATAAAT others(1126): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02055.hp1 others(18): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0005others(7): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(8): Show | a0001c0002t0001g0209a0001c0003t0001g0219a0001c0005t0001g0180others(18): Show | 21 | 232 | 0.0905 | -1133 | c.947 others(16): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 8/22 | chr3 | TogoVar | ||||||
| MYOF_chr10_93301429_93487334 | 93326694 | GGCTCACT others(1126): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp2 HG01891.hp1 others(1): Show |
a0001 | a0001c0004a0001c0005a0001c0017 | a0001c0004t0003a0001c0005t0001a0001c0017t0001 | a0001c0004t0003g0233a0001c0004t0003g0238a0001c0005t0001g0079others(1): Show | 4 | 240 | 0.0167 | -1133 | c.513 others(17): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 45/53 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235660 | TCCCCTCT others(1125): Show |
T | intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0004 | a0002c0004t0028 | a0002c0004t0028g0020 | 1 | 106 | 0.0094 | -1132 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235692 | GCCTCCCG others(1125): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02886.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0049a0001c0003t0001a0001c0007t0066 | a0001c0001t0049g0040a0001c0003t0001g0070a0001c0007t0066g0105 | 3 | 106 | 0.0283 | -1132 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar |