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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL5A1_chr9_134636803_134849843 | 134657109 | C | CAGTTTAT others(1705): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0080 | 1 | 13 | 0.0769 | 1712 | c.109 others(1731): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 1/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1705): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0258 | 1 | 7 | 0.1429 | 1712 | c.*16 others(1723): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1705): Show |
downstream_gene_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0339 | 1 | 7 | 0.1429 | 1712 | c.*16 others(1723): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1705): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0262 | 1 | 7 | 0.1429 | 1712 | c.*16 others(1723): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1705): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01099.hp2 HG01257.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0008 a0001c0001t0001g0290 a0001c0001t0001g0294 others(10): Show |
13 | 19 | 0.6842 | 1712 | c.*16 others(1723): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(1705): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0255 | 1 | 7 | 0.1429 | 1712 | c.*16 others(1723): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1705): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 7 | 0.1429 | 1712 | c.*22 others(1723): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1705): Show |
downstream_gene_variant | MODIFIER | NA19064.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0011 | 1 | 7 | 0.1429 | 1712 | c.*22 others(1723): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1705): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01257.hp1 others(14): Show |
a0001a0004a0005 | a0001c0002a0001c0010a0004c0007others(1): Show | a0001c0002t0001a0001c0010t0001a0004c0007t0001others(1): Show | a0001c0002t0001g0002 a0001c0002t0001g0045 a0001c0010t0001g0025 others(2): Show |
17 | 23 | 0.7391 | 1712 | c.*22 others(1723): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(1705): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 7 | 0.1429 | 1712 | c.*22 others(1723): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1705): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0059 | 1 | 92 | 0.0109 | 1712 | c.124 others(1731): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1705): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0055 | 1 | 92 | 0.0109 | 1712 | c.124 others(1731): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1705): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG01106.hp2 others(20): Show |
a0002a0006 | a0002c0003a0006c0010 | a0002c0003t0004a0002c0003t0005a0002c0003t0021others(2): Show | a0002c0003t0004g0001 a0002c0003t0004g0032 a0002c0003t0004g0033 others(17): Show |
23 | 114 | 0.2018 | 1712 | c.124 others(1731): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1705): Show |
intron_variant | MODIFIER | NA18975.hp1 NA18990.hp1 NA19056.hp2 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0039 a0002c0003t0004g0040 a0002c0003t0004g0041 |
3 | 94 | 0.0319 | 1712 | c.124 others(1731): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1705): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0118 | 1 | 126 | 0.0079 | 1712 | c.45- others(1727): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1705): Show |
intron_variant | MODIFIER | NA18971.hp2 NA19012.hp1 |
a0003 | a0003c0003 | a0003c0003t0002a0003c0003t0003 | a0003c0003t0002g0259 a0003c0003t0003g0260 |
2 | 127 | 0.0157 | 1712 | c.45- others(1727): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1705): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 18 | 0.0556 | 1712 | c.-28 others(1731): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1705): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0010 | 1 | 18 | 0.0556 | 1712 | c.-28 others(1731): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RUSC2_chr9_35485111_35566895 | 35495153 | T | TATAGTAT others(1705): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 217 | 0.0046 | 1712 | c.-93 others(1729): Show |
RUSC2 | ENSG00000198853.12 | transcript | ENST00000361226.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(1705): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0121 | 1 | 113 | 0.0088 | 1712 | c.*53 others(1723): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | |||||||
ZFAT_chr8_134472788_134718031 | 134498928 | G | GCCCCCGT others(1705): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0012 | 1 | 272 | 0.0037 | 1712 | c.349 others(1733): Show |
ZFAT | ENSG00000066827.16 | transcript | ENST00000377838.8 | protein_coding | 15/15 | chr8 | TogoVar | |||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1706): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 259 | 0.0039 | 1713 | c.-50 others(1730): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1706): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 259 | 0.0039 | 1713 | c.-50 others(1730): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1706): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01168.hp2 HG01981.hp1 others(9): Show |
a0001a0008 | a0001c0001a0001c0007a0008c0011 | a0001c0001t0003a0001c0001t0009a0001c0007t0009others(2): Show | a0001c0001t0003g0038 a0001c0001t0003g0048 a0001c0001t0003g0050 others(9): Show |
12 | 270 | 0.0444 | 1713 | c.-50 others(1730): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1706): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0059 | 1 | 259 | 0.0039 | 1713 | c.-50 others(1730): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478080 | A | AAGGGAGG others(1706): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0055 | 1 | 88 | 0.0114 | 1713 | c.158 others(1730): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322793 | A | ACGGAATA others(1706): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0028 | 2 | 285 | 0.0070 | 1713 | c.-22 others(1724): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2176 | chr21 | TogoVar | |||||||
KCNQ2_chr20_63395208_63477655 | 63450560 | G | GGGGGGAA others(1706): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0124 | 1 | 328 | 0.0030 | 1713 | c.297 others(1730): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811204 | T | TTCCCTCC others(1706): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 169 | 0.0059 | 1713 | c.773 others(1728): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1706): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG02615.hp2 HG02897.hp1 others(2): Show |
a0002a0003a0004 | a0002c0002a0003c0003a0004c0004 | a0002c0002t0010a0003c0003t0033a0004c0004t0035others(1): Show | a0002c0002t0010g0033 a0003c0003t0033g0032 a0004c0004t0035g0018 others(1): Show |
5 | 340 | 0.0147 | 1713 | c.-38 others(1724): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1706): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0146 | 1 | 92 | 0.0109 | 1713 | c.124 others(1732): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIC3_chr11_8101056_8174025 | 8158765 | T | TCTCTGTC others(1706): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0038 | 1 | 92 | 0.0109 | 1713 | c.124 others(1732): Show |
RIC3 | ENSG00000166405.16 | transcript | ENST00000309737.11 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1706): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0225 | 1 | 126 | 0.0079 | 1713 | c.45- others(1728): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1706): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0165 | 1 | 100 | 0.0100 | 1713 | c.-10 others(1730): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1707): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0251 | 1 | 76 | 0.0132 | 1714 | c.955 others(1731): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1707): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0037 | 1 | 259 | 0.0039 | 1714 | c.-50 others(1731): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1707): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0006 | 1 | 259 | 0.0039 | 1714 | c.-50 others(1731): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1707): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0108 | 1 | 259 | 0.0039 | 1714 | c.-50 others(1731): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1707): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 259 | 0.0039 | 1714 | c.-50 others(1731): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17653856 | T | TAAAAATT others(1707): Show |
intron_variant | MODIFIER | NA18989.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 a0001c0001t0003g0049 |
2 | 260 | 0.0077 | 1714 | c.-50 others(1731): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411129 | C | CCGGATCC others(1707): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0024 | 1 | 218 | 0.0046 | 1714 | c.-21 others(1725): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1983 | chr19 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(1707): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0048 | 1 | 205 | 0.0049 | 1714 | c.411 others(1731): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92705644 | T | TAGTGATG others(1707): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01978.hp2 HG02698.hp1 others(1): Show |
a0002a0008a0027 | a0002c0003a0008c0007a0027c0017 | a0002c0003t0077a0008c0007t0004a0008c0007t0048others(1): Show | a0002c0003t0077g0008 a0008c0007t0004g0071 a0008c0007t0048g0047 others(1): Show |
4 | 27 | 0.1481 | 1714 | c.366 others(1733): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 4/27 | chr11 | TogoVar | |||||||
GLOD4_chr17_754330_787280 | 768444 | A | AAGAGGGA others(1707): Show |
intron_variant | MODIFIER | HG02486.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 2 | 358 | 0.0056 | 1714 | c.831 others(1731): Show |
GLOD4 | ENSG00000167699.14 | transcript | ENST00000301329.11 | protein_coding | 8/8 | chr17 | TogoVar | |||||||
HCN2_chr19_584881_622159 | 602415 | T | TCCTCCTC others(1707): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0032 | a0001c0032t0004 | a0001c0032t0004g0381 | 1 | 393 | 0.0025 | 1714 | c.633 others(1731): Show |
HCN2 | ENSG00000099822.3 | transcript | ENST00000251287.3 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953985 | A | ACACCCAC others(1707): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0013 | a0001c0013t0014 | a0001c0013t0014g0022 | 1 | 144 | 0.0069 | 1714 | c.503 others(1729): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1707): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0174 | 1 | 5 | 0.2000 | 1714 | c.189 others(1733): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1707): Show |
upstream_gene_variant | MODIFIER | HG02886.hp2 HG02896.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0034 a0001c0001t0009g0035 a0001c0001t0009g0176 others(2): Show |
7 | 342 | 0.0205 | 1714 | c.-38 others(1725): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1707): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0036 | 1 | 336 | 0.0030 | 1714 | c.-38 others(1725): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar | |||||||
PLK5_chr19_1519077_1541046 | 1520893 | C | CGCTCTGT others(1707): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01261.hp2 HG02148.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0008a0001c0001t0009a0001c0001t0032others(5): Show | a0001c0001t0008g0008 a0001c0001t0008g0036 a0001c0001t0009g0175 others(12): Show |
18 | 353 | 0.0510 | 1714 | c.-38 others(1725): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 3183 | chr19 | TogoVar |