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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO1F_chr19_8515778_8582442 | 8543693 | G | GTGCTGGT others(915): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0258 | 1 | 215 | 0.0047 | 922 | c.152 others(939): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 14/27 | chr19 | TogoVar | |||||||
MYRIP_chr3_39804609_40265321 | 40203779 | T | TTATATAG others(915): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 64 | 0.0156 | 922 | c.166 others(941): Show |
MYRIP | ENSG00000170011.14 | transcript | ENST00000302541.11 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYT1L_chr2_1784113_2336275 | 2295593 | C | CAGAGAGA others(915): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0076 | 1 | 49 | 0.0204 | 922 | c.-52 others(943): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 1/24 | chr2 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(915): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0036 | 1 | 2 | 0.5000 | 922 | c.734 others(939): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CTCTCTCC others(915): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 5 | 0.2000 | 922 | c.189 others(941): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | chr13 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAT others(915): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0003 | a0003c0021 | a0003c0021t0001 | a0003c0021t0001g0185 | 1 | 82 | 0.0122 | 922 | c.147 others(939): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGCATGAC others(915): Show |
intron_variant | MODIFIER | NA18966.hp1 | a0002 | a0002c0004 | a0002c0004t0013 | a0002c0004t0013g0127 | 1 | 210 | 0.0048 | 922 | c.227 others(939): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(915): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 253 | 0.0040 | 922 | c.66+ others(937): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388495 | A | ATAACTTA others(915): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03017.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 |
3 | 242 | 0.0124 | 922 | c.66+ others(937): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388500 | T | TTATAGCT others(915): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0200 | 1 | 297 | 0.0034 | 922 | c.66+ others(937): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RNF150_chr4_140854807_141138469 | 140999942 | A | AAAGAAAG others(915): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0059 | 1 | 141 | 0.0071 | 922 | c.485 others(941): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 934861 | G | GCGTTACA others(915): Show |
intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0187 | 1 | 383 | 0.0026 | 922 | c.843 others(937): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC31A1_chr9_113216544_113269492 | 113250305 | T | TAAGAAAA others(915): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0323 | 1 | 375 | 0.0027 | 922 | c.-35 others(939): Show |
SLC31A1 | ENSG00000136868.11 | transcript | ENST00000374212.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC31A1_chr9_113216544_113269492 | 113250305 | T | TAAGAAAA others(915): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0326 | 1 | 375 | 0.0027 | 922 | c.-35 others(939): Show |
SLC31A1 | ENSG00000136868.11 | transcript | ENST00000374212.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(915): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0081 | 1 | 20 | 0.0500 | 922 | c.206 others(941): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | |||||||
SLC5A8_chr12_101150493_101215238 | 101180717 | T | TAAAAAAA others(915): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0132 | 1 | 371 | 0.0027 | 922 | c.116 others(939): Show |
SLC5A8 | ENSG00000256870.3 | transcript | ENST00000536262.3 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(915): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0047 | 1 | 3 | 0.3333 | 922 | c.597 others(939): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(915): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0138 | 1 | 28 | 0.0357 | 922 | c.113 others(941): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(915): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 28 | 0.0357 | 922 | c.113 others(941): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(915): Show |
intron_variant | MODIFIER | HG02083.hp2 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 a0001c0001t0001g0205 |
2 | 29 | 0.0690 | 922 | c.113 others(941): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TCF3_chr19_1604292_1657615 | 1629129 | C | CAGAGCTC others(915): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0001 | a0002c0001t0015 | a0002c0001t0015g0058 | 1 | 174 | 0.0057 | 922 | c.299 others(939): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
THEG_chr19_356747_381026 | 376820 | T | TCCGTGCC others(915): Show |
upstream_gene_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 326 | 0.0031 | 922 | c.-85 others(931): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 795 | chr19 | TogoVar | |||||||
TMEM255B_chr13_113754226_113821995 | 113812938 | G | GTCACAGG others(915): Show |
3_prime_UTR_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0113 | 1 | 224 | 0.0045 | 922 | c.*10 others(933): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 9/9 | 1040 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TP53AIP1_chr11_128930370_128947871 | 128930591 | A | AGGGTTAG others(915): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 380 | 0.0026 | 922 | c.*49 others(933): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4778 | chr11 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870478 | A | ACACCCCA others(915): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 262 | 0.0038 | 922 | c.*35 others(941): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC5C_chr4_95157504_95553973 | 95196786 | A | ATATATTT others(915): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0004 | a0001c0004t0023 | a0001c0004t0023g0187 | 1 | 3 | 0.3333 | 922 | c.213 others(941): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(916): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0018 | 1 | 293 | 0.0034 | 923 | c.170 others(944): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(916): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02922.hp2 |
a0019a0023 | a0019c0037a0023c0093 | a0019c0037t0001a0023c0093t0001 | a0019c0037t0001g0070 a0023c0093t0001g0081 |
2 | 294 | 0.0068 | 923 | c.170 others(944): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668924 | A | AGGAAGTG others(916): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0012 | a0012c0026 | a0012c0026t0004 | a0012c0026t0004g0078 | 1 | 293 | 0.0034 | 923 | c.170 others(944): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111178 | A | AACCACCC others(916): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 300 | 0.0033 | 923 | c.401 others(940): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(916): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0227 | 1 | 76 | 0.0132 | 923 | c.955 others(940): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(916): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0038 | 1 | 299 | 0.0033 | 923 | c.*36 others(934): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | |||||||
CADM2_chr3_84953989_86079429 | 85548235 | G | GATAGAAG others(916): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp2 others(18): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0065 a0001c0001t0001g0103 a0001c0001t0002g0138 others(18): Show |
21 | 108 | 0.1944 | 923 | c.62- others(942): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85548235 | G | GATAGAAG others(916): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG01069.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0063 others(34): Show |
37 | 124 | 0.2984 | 923 | c.62- others(942): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85548235 | G | GATAGAAG others(916): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0093 | 1 | 88 | 0.0114 | 923 | c.62- others(942): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(916): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0186 | 1 | 74 | 0.0135 | 923 | c.937 others(938): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(916): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 74 | 0.0135 | 923 | c.937 others(938): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(916): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 74 | 0.0135 | 923 | c.937 others(938): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255786 | A | AAGGGGGA others(916): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022 | 1 | 315 | 0.0032 | 923 | c.85- others(940): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89588191 | G | GCCCCCGT others(916): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 210 | 0.0048 | 923 | c.928 others(938): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(916): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0139 | 1 | 302 | 0.0033 | 923 | c.513 others(940): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
DCDC2C_chr2_3698575_3853008 | 3725566 | A | AGAGGAAG others(916): Show |
intron_variant | MODIFIER | NA18965.hp2 NA19063.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0004a0002c0003t0001 | a0001c0002t0004g0266 a0002c0003t0001g0192 |
2 | 219 | 0.0091 | 923 | c.340 others(940): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725575 | C | CGAGCAGA others(916): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052 | 1 | 292 | 0.0034 | 923 | c.340 others(940): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EGFR_chr7_55014017_55216628 | 55167217 | C | CGGTGGTG others(916): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18612.hp1 |
a0001 | a0001c0010 | a0001c0010t0007 | a0001c0010t0007g0096 a0001c0010t0007g0132 |
2 | 104 | 0.0192 | 923 | c.188 others(942): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355671 | G | GGAGAAGA others(916): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0006 | a0006c0018 | a0006c0018t0001 | a0006c0018t0001g0029 | 1 | 57 | 0.0175 | 923 | c.757 others(938): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
GOLM1_chr9_86021146_86104558 | 86053557 | A | ATGCCACA others(916): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 |
a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0207 a0002c0002t0015g0208 |
2 | 312 | 0.0064 | 923 | c.310 others(938): Show |
GOLM1 | ENSG00000135052.16 | transcript | ENST00000388712.7 | protein_coding | 3/9 | chr9 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(916): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 13 | 0.0769 | 923 | c.978 others(940): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997508 | G | GGGGGCGG others(916): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0294 | 1 | 347 | 0.0029 | 923 | c.-19 others(934): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 162 | chr6 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87738753 | T | TCATCCAC others(916): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02976.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0265 a0002c0002t0001g0196 |
2 | 376 | 0.0053 | 923 | c.507 others(940): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87738753 | T | TCATCCAT others(916): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 375 | 0.0027 | 923 | c.507 others(940): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar |