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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RTEL1_chr20_63653312_63701245 | 63693510 | T | TCCACCAC others(1016): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 17 | 0.0588 | 1023 | c.299 others(1040): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1016): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03540.hp1 |
a0001a0002 | a0001c0006a0002c0004 | a0001c0006t0019a0002c0004t0001 | a0001c0006t0019g0016 a0002c0004t0001g0060 |
2 | 47 | 0.0426 | 1023 | c.148 others(1042): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1016): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0054 | 1 | 46 | 0.0217 | 1023 | c.148 others(1042): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1016): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0007 | a0003c0007t0003 | a0003c0007t0003g0072 | 1 | 46 | 0.0217 | 1023 | c.148 others(1042): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1016): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02622.hp1 HG02622.hp2 others(1): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0024 | a0001c0001t0001a0002c0002t0002a0007c0024t0007 | a0001c0001t0001g0018 a0001c0001t0001g0085 a0002c0002t0002g0019 others(1): Show |
4 | 49 | 0.0816 | 1023 | c.148 others(1042): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1016): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG01516.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0012 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0123 a0001c0001t0004g0149 a0001c0001t0008g0083 others(2): Show |
5 | 50 | 0.1000 | 1023 | c.148 others(1042): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1016): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01074.hp1 HG01081.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0038 a0001c0001t0001g0068 a0001c0001t0001g0097 others(15): Show |
18 | 63 | 0.2857 | 1023 | c.148 others(1042): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
SLC39A11_chr17_72640949_73097688 | 73051754 | T | TGGCTGAG others(1016): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 46 | 0.0217 | 1023 | c.148 others(1042): Show |
SLC39A11 | ENSG00000133195.12 | transcript | ENST00000255559.8 | protein_coding | 3/9 | chr17 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168594937 | G | GAGTATCT others(1016): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 76 | 0.0132 | 1023 | c.638 others(1040): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246324972 | A | AGGAGAAG others(1016): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 144 | 0.0069 | 1023 | c.531 others(1040): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(1016): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0007 | a0007c0033 | a0007c0033t0058 | a0007c0033t0058g0334 | 1 | 90 | 0.0111 | 1023 | c.272 others(1042): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(1016): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02280.hp2 |
a0001 | a0001c0032 | a0001c0032t0166a0001c0032t0167 | a0001c0032t0166g0251 a0001c0032t0167g0343 |
2 | 91 | 0.0220 | 1023 | c.272 others(1042): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(1016): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00621.hp1 others(28): Show |
a0001a0004a0005others(3): Show | a0001c0001a0004c0003a0004c0005others(6): Show | a0001c0001t0011a0001c0001t0012a0001c0001t0106others(19): Show | a0001c0001t0011g0031 a0001c0001t0012g0199 a0001c0001t0106g0029 others(28): Show |
31 | 120 | 0.2583 | 1023 | c.272 others(1042): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95419899 | G | GGTGGTGG others(1016): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0009 | a0009c0023 | a0009c0023t0033 | a0009c0023t0033g0072 | 1 | 90 | 0.0111 | 1023 | c.272 others(1042): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1016): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0130 | 1 | 28 | 0.0357 | 1023 | c.113 others(1042): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1628838 | C | CGGGGTGA others(1016): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0009 | 1 | 156 | 0.0064 | 1023 | c.299 others(1040): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TNFRSF6B_chr20_63691652_63703684 | 63693510 | T | TCCACCAC others(1016): Show |
upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 6 | 0.1667 | 1023 | c.-32 others(1034): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 3141 | chr20 | TogoVar | |||||||
ABCC5_chr3_183914934_184022884 | 183956791 | C | CGTGTGTA others(1017): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0016 | 1 | 376 | 0.0027 | 1024 | c.248 others(1043): Show |
ABCC5 | ENSG00000114770.17 | transcript | ENST00000334444.11 | protein_coding | 17/29 | chr3 | TogoVar | |||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1017): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0314 | 1 | 8 | 0.1250 | 1024 | c.285 others(1043): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1017): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0281 | 1 | 8 | 0.1250 | 1024 | c.285 others(1043): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1017): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 8 | 0.1250 | 1024 | c.285 others(1043): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1017): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 8 | 0.1250 | 1024 | c.285 others(1043): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1017): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18956.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0070 a0001c0001t0001g0095 |
3 | 10 | 0.3000 | 1024 | c.285 others(1043): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1017): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 NA19003.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0019 others(1): Show |
4 | 11 | 0.3636 | 1024 | c.285 others(1043): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1017): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0007 | a0007c0019 | a0007c0019t0001 | a0007c0019t0001g0036 | 1 | 8 | 0.1250 | 1024 | c.285 others(1043): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758169 | A | ACTCATTC others(1017): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0013 | a0013c0010 | a0013c0010t0001 | a0013c0010t0001g0253 | 1 | 273 | 0.0037 | 1024 | c.655 others(1043): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(1017): Show |
downstream_gene_variant | MODIFIER | NA20805.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0013 | 1 | 296 | 0.0034 | 1024 | c.*36 others(1035): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(1017): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 219 | 0.0046 | 1024 | c.327 others(1041): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2539378 | C | CTTCATAA others(1017): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0015 | 1 | 92 | 0.0109 | 1024 | c.139 others(1045): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1017): Show |
upstream_gene_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0305 | 1 | 66 | 0.0152 | 1024 | c.-25 others(1035): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1017): Show |
upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0159 | 1 | 66 | 0.0152 | 1024 | c.-25 others(1035): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287046 | A | ATATGTAT others(1017): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02300.hp2 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 a0001c0001t0001g0197 |
3 | 276 | 0.0109 | 1024 | c.51+ others(1039): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(1017): Show |
intron_variant | MODIFIER | NA19070.hp1 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 354 | 0.0056 | 1024 | c.51+ others(1039): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438438 | A | AGGAGGAG others(1017): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0090 | a0090c0028 | a0090c0028t0001 | a0090c0028t0001g0116 | 1 | 241 | 0.0041 | 1024 | c.118 others(1043): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619226 | T | TCCCCTCC others(1017): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 68 | 0.0147 | 1024 | c.-10 others(1043): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89634796 | T | TCCTTTCC others(1017): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 247 | 0.0040 | 1024 | c.105 others(1041): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377695 | T | TGTGTTCT others(1017): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0023 | 1 | 240 | 0.0042 | 1024 | c.215 others(1041): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EIF3B_chr7_2349827_2385745 | 2377851 | A | AGGAGGAA others(1017): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 170 | 0.0059 | 1024 | c.215 others(1041): Show |
EIF3B | ENSG00000106263.19 | transcript | ENST00000360876.9 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113824385 | C | CGCGGTCT others(1017): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0116 | 1 | 110 | 0.0091 | 1024 | c.147 others(1041): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GREB1_chr2_11529045_11647788 | 11618136 | C | CACTCCTG others(1017): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0003 | a0003c0003 | a0003c0003t0022 | a0003c0003t0022g0122 | 1 | 82 | 0.0122 | 1024 | c.341 others(1039): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 21/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(1017): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0034 | 1 | 134 | 0.0075 | 1024 | c.-28 others(1035): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | |||||||
HAUS2_chr15_42543838_42574994 | 42557401 | T | TATATATA others(1017): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 309 | 0.0032 | 1024 | c.94- others(1037): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42557403 | T | TATATATT others(1017): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 347 | 0.0029 | 1024 | c.94- others(1037): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62360411 | A | AGGTGGGT others(1017): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02630.hp1 |
a0065a0068 | a0065c0032a0068c0031 | a0065c0032t0001a0068c0031t0001 | a0065c0032t0001g0178 a0068c0031t0001g0179 |
2 | 166 | 0.0120 | 1024 | c.450 others(1041): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(1017): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 276 | 0.0036 | 1024 | c.195 others(1041): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
OPRL1_chr20_64075082_64105633 | 64097040 | C | CCGTCACC others(1017): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0044 | 1 | 16 | 0.0625 | 1024 | c.234 others(1039): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OPRL1_chr20_64075082_64105633 | 64097040 | C | CCGTCACC others(1017): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0017 | a0001c0001t0004g0008 a0001c0001t0004g0036 a0001c0001t0017g0008 |
3 | 18 | 0.1667 | 1024 | c.234 others(1039): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1017): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 393 | 0.0025 | 1024 | c.*31 others(1035): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | |||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1017): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02615.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0129 a0001c0001t0001g0226 a0001c0001t0002g0084 |
3 | 197 | 0.0152 | 1024 | c.347 others(1039): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92639797 | C | CCTGCCTG others(1017): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02074.hp1 HG03704.hp2 others(1): Show |
a0001a0012a0017 | a0001c0001a0012c0016a0017c0043 | a0001c0001t0001a0012c0016t0001a0012c0016t0002others(1): Show | a0001c0001t0001g0105 a0012c0016t0001g0165 a0012c0016t0002g0297 others(1): Show |
4 | 84 | 0.0476 | 1024 | c.441 others(1041): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |