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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LRRC7_chr1_69562922_70149364 | 69916099 | T | TTATATAT others(1093): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0028 | a0001c0003t0028g0014 | 1 | 108 | 0.0093 | 1100 | c.648 others(1119): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAEA_chr4_1284891_1345137 | 1317045 | G | GCCCCACA others(1093): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 388 | 0.0026 | 1100 | c.456 others(1117): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 3/8 | chr4 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 2295673 | G | GAGATAGA others(1093): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0102 | 1 | 104 | 0.0096 | 1100 | c.-52 others(1121): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132149138 | T | TACCACAC others(1093): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0014 | a0014c0026 | a0014c0026t0001 | a0014c0026t0001g0103 | 1 | 294 | 0.0034 | 1100 | c.901 others(1115): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TGTCTCCT others(1093): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0003 | a0003c0004 | a0003c0004t0049 | a0003c0004t0049g0270 | 1 | 326 | 0.0031 | 1100 | c.433 others(1117): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
OPRL1_chr20_64075082_64105633 | 64088600 | T | TAGGATCT others(1093): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017 | a0001c0001t0004g0006 a0001c0001t0004g0035 a0001c0001t0017g0006 |
3 | 66 | 0.0455 | 1100 | c.-18 others(1119): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64088874 | T | TGGCCAGG others(1093): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 66 | 0.0152 | 1100 | c.-18 others(1119): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64088874 | T | TGGCCAGG others(1093): Show |
intron_variant | MODIFIER | HG01934.hp2 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0028 a0001c0001t0008g0030 |
2 | 66 | 0.0303 | 1100 | c.-18 others(1119): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1093): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 456 | 0.0022 | 1100 | c.*31 others(1111): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PFKFB3_chr10_6197932_6240532 | 6206842 | G | GCAGCCAG others(1093): Show |
intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 432 | 0.0023 | 1100 | c.76+ others(1115): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
PFKFB3_chr10_6197932_6240532 | 6210924 | A | AGTCTTGA others(1093): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0396 | 1 | 432 | 0.0023 | 1100 | c.77- others(1115): Show |
PFKFB3 | ENSG00000170525.21 | transcript | ENST00000379775.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1093): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0017 | a0003c0017t0001 | a0003c0017t0001g0190 | 1 | 308 | 0.0033 | 1100 | c.371 others(1117): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325143 | A | AGAGTGAG others(1093): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 398 | 0.0025 | 1100 | c.194 others(1117): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79483438 | G | GCCTCCCT others(1093): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 154 | 0.0065 | 1100 | c.-31 others(1117): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1093): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0094 | 1 | 334 | 0.0030 | 1100 | c.45- others(1115): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934446 | C | CATATATA others(1093): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 324 | 0.0031 | 1100 | c.115 others(1117): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(1093): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 420 | 0.0024 | 1100 | c.107 others(1117): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377652 | T | TCCCCGTC others(1093): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0059 | 1 | 114 | 0.0088 | 1100 | c.-25 others(1119): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028634 | C | CCTCGTAA others(1093): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0069 | 1 | 224 | 0.0045 | 1100 | c.225 others(1119): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46292872 | A | AATTCCTC others(1093): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0359 | 1 | 404 | 0.0025 | 1100 | c.339 others(1117): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1119284 | T | TCCTCCCA others(1094): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0166 | 1 | 337 | 0.0030 | 1101 | c.246 others(1118): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251495 | A | AAGGGAAG others(1094): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 242 | 0.0041 | 1101 | c.927 others(1118): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGGA others(1094): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0114 | 1 | 242 | 0.0041 | 1101 | c.927 others(1118): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
BTRC_chr10_101349165_101562313 | 101495840 | C | CATCCACC others(1094): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02056.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0209 a0001c0001t0005g0210 |
2 | 266 | 0.0075 | 1101 | c.324 others(1120): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539393 | G | GGCAGGGT others(1094): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0004 | a0001c0004t0036 | a0001c0004t0036g0099 | 1 | 104 | 0.0096 | 1101 | c.139 others(1122): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(1094): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0007 | a0007c0004 | a0007c0004t0008 | a0007c0004t0008g0277 | 1 | 338 | 0.0030 | 1101 | c.300 others(1118): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(1094): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0030 | a0030c0054 | a0030c0054t0003 | a0030c0054t0003g0130 | 1 | 338 | 0.0030 | 1101 | c.300 others(1118): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20356388 | T | TAGTGTGA others(1094): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0025 | a0025c0046 | a0025c0046t0001 | a0025c0046t0001g0058 | 1 | 236 | 0.0042 | 1101 | c.351 others(1120): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20356388 | T | TAGTGTGA others(1094): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 236 | 0.0042 | 1101 | c.351 others(1120): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DBNDD1_chr16_89999871_90024456 | 90003800 | C | CACCTTTA others(1094): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 | 1 | 412 | 0.0024 | 1101 | c.*25 others(1112): Show |
DBNDD1 | ENSG00000003249.15 | transcript | ENST00000002501.11 | protein_coding | 1070 | chr16 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1094): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0001 | 1 | 252 | 0.0040 | 1101 | c.118 others(1120): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1094): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0059 | a0059c0230 | a0059c0230t0001 | a0059c0230t0001g0006 | 1 | 252 | 0.0040 | 1101 | c.118 others(1120): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574458 | C | CGTGTGGG others(1094): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0028 | 1 | 418 | 0.0024 | 1101 | c.119 others(1120): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344496 | C | CCGTGAGA others(1094): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0112 | 1 | 395 | 0.0025 | 1101 | c.*69 others(1112): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 186136 | G | GGAGGAAC others(1094): Show |
downstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 1101 | c.*50 others(1112): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4958 | chr16 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399225 | A | ACCACCGC others(1094): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 314 | 0.0032 | 1101 | c.-25 others(1118): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152561 | C | CACCACCA others(1094): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225 | 1 | 274 | 0.0037 | 1101 | c.804 others(1118): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
ICA1_chr7_8108184_8267167 | 8152561 | C | CACCACCA others(1094): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0067 | 1 | 274 | 0.0037 | 1101 | c.804 others(1118): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
IMPDH1_chr7_128387277_128414982 | 128414326 | G | GGCTGGAG others(1094): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0014 | 1 | 414 | 0.0024 | 1101 | c.-44 others(1112): Show |
IMPDH1 | ENSG00000106348.19 | transcript | ENST00000338791.11 | protein_coding | 4345 | chr7 | TogoVar | |||||||
KIF26B_chr1_245149985_245714432 | 245442791 | G | GGTCATCT others(1094): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0020 | a0001c0020t0013 | a0001c0020t0013g0086 | 1 | 160 | 0.0063 | 1101 | c.116 others(1122): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055110 | A | AGGGATAG others(1094): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03041.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0007a0002c0003t0004 | a0001c0001t0007g0045 a0002c0003t0004g0235 |
2 | 236 | 0.0085 | 1101 | c.193 others(1120): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055112 | A | AGGGATAG others(1094): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03139.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0014 | a0001c0002t0004g0048 a0001c0002t0014g0220 |
2 | 236 | 0.0085 | 1101 | c.193 others(1120): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186136 | G | GGAGGAAC others(1094): Show |
downstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 350 | 0.0029 | 1101 | c.*30 others(1112): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2853 | chr16 | TogoVar | |||||||
MAP3K19_chr2_134959491_135052447 | 135033467 | C | CCCCGGAC others(1094): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0107 | 1 | 334 | 0.0030 | 1101 | c.-28 others(1120): Show |
MAP3K19 | ENSG00000176601.14 | transcript | ENST00000392915.7 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1094): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0106 | 1 | 208 | 0.0048 | 1101 | c.279 others(1116): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
NT5C1A_chr1_39646229_39677107 | 39664497 | T | TCCTCTCC others(1094): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 326 | 0.0031 | 1101 | c.433 others(1118): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1094): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0032 | a0032c0084 | a0032c0084t0001 | a0032c0084t0001g0244 | 1 | 308 | 0.0033 | 1101 | c.371 others(1118): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1094): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0285 | 1 | 334 | 0.0030 | 1101 | c.45- others(1116): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1094): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0099 | a0001c0099t0002 | a0001c0099t0002g0139 | 1 | 154 | 0.0065 | 1101 | c.108 others(1118): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1073081 | C | CCCCCAGC others(1094): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0024 | 1 | 118 | 0.0085 | 1101 | c.224 others(1118): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar |