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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZRANB3_chr2_135191969_135536218 | 135488792 | TATAATAA others(110): Show |
T | intron_variant | MODIFIER | HG03130.hp1 NA19043.hp2 NA21309.hp2 |
a0006 | a0006c0008 | a0006c0008t0009 | a0006c0008t0009g0081 a0006c0008t0009g0082 a0006c0008t0009g0110 |
3 | 214 | 0.0140 | -117 | c.161 others(19): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 2/20 | chr2 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289071 | TCCCCCGA others(109): Show |
T | downstream_gene_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 295 | 0.0034 | -116 | c.*43 others(11): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3319 | chr1 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179277859 | CCCCCCCT others(109): Show |
C | intron_variant | MODIFIER | HG00639.hp2 NA18995.hp1 |
a0002 | a0002c0004a0002c0102 | a0002c0004t0001a0002c0102t0002 | a0002c0004t0001g0268 a0002c0102t0002g0223 |
2 | 276 | 0.0073 | -116 | c.535 others(17): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1238610 | CCCCTCTG others(109): Show |
C | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0054 | 1 | 106 | 0.0094 | -116 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
AFDN_chr6_167821911_167977023 | 167940878 | CATATGGA others(109): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0195 | 1 | 326 | 0.0031 | -116 | c.310 others(19): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 23/33 | chr6 | TogoVar | |||||||
AFDN_chr6_167821911_167977023 | 167940965 | GTGAGGGT others(109): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00741.hp2 others(23): Show |
a0001a0012 | a0001c0002a0001c0004a0012c0027 | a0001c0002t0001a0001c0004t0001a0012c0027t0001 | a0001c0002t0001g0210 a0001c0004t0001g0104 a0001c0004t0001g0108 others(23): Show |
26 | 326 | 0.0798 | -116 | c.310 others(19): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 23/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15354315 | CGTGTATA others(109): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG02080.hp2 HG02129.hp1 others(6): Show |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0001a0001c0001t0002a0009c0014t0001 | a0001c0001t0001g0025 a0001c0001t0001g0090 a0001c0001t0001g0134 others(6): Show |
9 | 236 | 0.0381 | -116 | c.126 others(21): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGRN_chr1_1015120_1061116 | 1029679 | GTGTGTGT others(109): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001a0026a0029 | a0001c0011a0001c0025a0001c0060others(2): Show | a0001c0011t0006a0001c0025t0008a0001c0025t0010others(3): Show | a0001c0011t0006g0010 a0001c0025t0008g0025 a0001c0025t0010g0020 others(3): Show |
7 | 210 | 0.0333 | -116 | c.464 others(17): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63400222 | CGTATATA others(109): Show |
C | intron_variant | MODIFIER | HG00408.hp1 NA18966.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0086 a0001c0008t0001g0094 |
2 | 388 | 0.0052 | -116 | c.168 others(17): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8120989 | TGGGTTCG others(109): Show |
T | upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0045 | 1 | 422 | 0.0024 | -116 | c.-29 others(11): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 2476 | chr17 | TogoVar | |||||||
ANOS1_chrX_8523874_8737137 | 8725571 | CATATATA others(109): Show |
C | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 HG02004.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(5): Show | a0001c0001t0005g0014 a0001c0001t0007g0006 a0001c0001t0010g0003 others(8): Show |
11 | 231 | 0.0476 | -116 | c.207 others(17): Show |
ANOS1 | ENSG00000011201.12 | transcript | ENST00000262648.8 | protein_coding | 1/13 | chrX | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 41066072 | TTAAAAGC others(109): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(26): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0022a0001c0003t0001a0001c0003t0030others(16): Show | a0001c0002t0022g0031 a0001c0003t0001g0185 a0001c0003t0030g0021 others(26): Show |
29 | 192 | 0.1510 | -116 | c.-14 others(17): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1888707 | GTGAGGAG others(109): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG02109.hp1 HG02257.hp2 others(18): Show |
a0001a0003a0021 | a0001c0002a0001c0003a0001c0005others(14): Show | a0001c0002t0003a0001c0003t0051a0001c0005t0031others(17): Show | a0001c0002t0003g0151 a0001c0003t0051g0118 a0001c0005t0031g0351 others(18): Show |
21 | 363 | 0.0579 | -116 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1888922 | TGGGGTGA others(109): Show |
T | intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0025 | a0002c0025t0059 | a0002c0025t0059g0105 | 1 | 363 | 0.0028 | -116 | c.118 others(19): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF1_chr19_41878184_41912452 | 41893717 | GTCTGGGT others(109): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp1 others(29): Show |
a0001a0002a0014 | a0001c0002a0001c0022a0002c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(3): Show | a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0037 others(20): Show |
32 | 234 | 0.1368 | -116 | c.644 others(15): Show |
ARHGEF1 | ENSG00000076928.20 | transcript | ENST00000354532.8 | protein_coding | 8/28 | chr19 | TogoVar | |||||||
ARID3A_chr19_921035_980939 | 950090 | TGAACGGA others(109): Show |
T | intron_variant | MODIFIER | NA19085.hp1 | a0002 | a0002c0003 | a0002c0003t0091 | a0002c0003t0091g0125 | 1 | 364 | 0.0028 | -116 | c.694 others(17): Show |
ARID3A | ENSG00000116017.11 | transcript | ENST00000263620.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARID3A_chr19_921035_980939 | 950148 | TGAACGGA others(109): Show |
T | intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0008 | a0002c0008t0018 | a0002c0008t0018g0013 | 1 | 364 | 0.0028 | -116 | c.694 others(17): Show |
ARID3A | ENSG00000116017.11 | transcript | ENST00000263620.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARID3A_chr19_921035_980939 | 950268 | CGGATGGA others(109): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG03098.hp2 |
a0002a0003 | a0002c0008a0003c0016 | a0002c0008t0006a0003c0016t0115 | a0002c0008t0006g0286 a0003c0016t0115g0003 |
2 | 364 | 0.0055 | -116 | c.694 others(17): Show |
ARID3A | ENSG00000116017.11 | transcript | ENST00000263620.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ASAP2_chr2_9201812_9410678 | 9406083 | GTGTTTGT others(109): Show |
G | downstream_gene_variant | MODIFIER | HG02976.hp1 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0048 a0001c0002t0008g0206 |
2 | 210 | 0.0095 | -116 | c.*27 others(11): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 406 | chr2 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9406251 | GTGTTTGT others(109): Show |
G | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0021 | 1 | 210 | 0.0048 | -116 | c.*29 others(11): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 574 | chr2 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25757941 | CCTAACTC others(109): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0059 | a0059c0028 | a0059c0028t0001 | a0059c0028t0001g0048 | 1 | 300 | 0.0033 | -116 | c.655 others(19): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25758137 | CCTAACTC others(109): Show |
C | intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0186 | 1 | 300 | 0.0033 | -116 | c.655 others(19): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167875998 | TATACGTA others(109): Show |
T | downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 118 | 0.0085 | -116 | c.*59 others(11): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1954 | chr2 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1435232 | AGCGGAGG others(109): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG01069.hp1 others(5): Show |
a0001a0004a0010 | a0001c0001a0001c0003a0004c0031others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(4): Show | a0001c0001t0001g0109 a0001c0001t0001g0186 a0001c0001t0004g0185 others(5): Show |
8 | 360 | 0.0222 | -116 | c.92- others(13): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BTBD19_chr1_44803523_44820585 | 44816566 | ATATTATA others(109): Show |
A | downstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 436 | 0.0023 | -116 | c.*27 others(11): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 982 | chr1 | TogoVar | |||||||
BTBD19_chr1_44803523_44820585 | 44816595 | ATATATAT others(109): Show |
A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG01934.hp2 HG02165.hp1 others(9): Show |
a0001a0003a0009 | a0001c0001a0003c0002a0009c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0016 others(8): Show |
12 | 436 | 0.0275 | -116 | c.*28 others(11): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 1011 | chr1 | TogoVar | |||||||
C11orf21_chr11_2290628_2306918 | 2300104 | TTGTGAGG others(109): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 426 | 0.0024 | -116 | c.147 others(15): Show |
C11orf21 | ENSG00000110665.12 | transcript | ENST00000381153.8 | protein_coding | 2/3 | chr11 | TogoVar | |||||||
C16orf74_chr16_85702517_85756096 | 85753314 | TGCACTAA others(109): Show |
T | upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 410 | 0.0024 | -116 | c.-25 others(11): Show |
C16orf74 | ENSG00000154102.11 | transcript | ENST00000284245.9 | protein_coding | 2219 | chr16 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585405 | GTGTTGAG others(109): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0005 | a0005c0009 | a0005c0009t0047 | a0005c0009t0047g0277 | 1 | 354 | 0.0028 | -116 | c.-22 others(17): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37585512 | AGAGGAGA others(109): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0190 | 1 | 354 | 0.0028 | -116 | c.-22 others(17): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CACNA1E_chr1_181478517_181813084 | 181728837 | CGTGTGTG others(109): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG03098.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0008 | a0001c0001t0001g0166 a0001c0004t0008g0032 a0001c0004t0008g0122 |
3 | 206 | 0.0146 | -116 | c.224 others(19): Show |
CACNA1E | ENSG00000198216.14 | transcript | ENST00000367573.7 | protein_coding | 18/47 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CALCR_chr7_93419486_93579724 | 93540675 | GTTATACA others(109): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0160 others(92): Show |
97 | 292 | 0.3322 | -116 | c.-27 others(19): Show |
CALCR | ENSG00000004948.16 | transcript | ENST00000426151.7 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
CANT1_chr17_78986716_79014764 | 79004364 | GGAGAGGG others(109): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00609.hp1 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0008 | a0001c0002t0002g0008 a0001c0002t0002g0013 a0001c0002t0002g0027 others(7): Show |
19 | 394 | 0.0482 | -116 | c.-14 others(19): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CARD14_chr17_80165030_80214331 | 80184619 | ATCCTCCT others(109): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02683.hp1 HG02738.hp1 others(5): Show |
a0002a0003a0010others(1): Show | a0002c0002a0002c0005a0003c0006others(2): Show | a0002c0002t0001a0002c0005t0001a0003c0006t0001others(2): Show | a0002c0002t0001g0216 a0002c0005t0001g0222 a0003c0006t0001g0203 others(5): Show |
8 | 376 | 0.0213 | -116 | c.675 others(15): Show |
CARD14 | ENSG00000141527.19 | transcript | ENST00000648509.2 | protein_coding | 7/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25586393 | AATGGGCG others(109): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG02486.hp1 HG02615.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(1): Show | a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0105 others(4): Show |
7 | 186 | 0.0376 | -116 | c.300 others(19): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CCDC57_chr17_82096470_82217842 | 82162553 | TTGACCAG others(109): Show |
T | intron_variant | MODIFIER | HG01261.hp1 HG02004.hp1 HG03130.hp1 others(1): Show |
a0003a0013a0016 | a0003c0004a0013c0014a0016c0025 | a0003c0004t0003a0013c0014t0001a0016c0025t0001 | a0003c0004t0003g0089 a0013c0014t0001g0019 a0013c0014t0001g0020 others(1): Show |
4 | 252 | 0.0159 | -116 | c.204 others(17): Show |
CCDC57 | ENSG00000176155.21 | transcript | ENST00000694881.1 | protein_coding | 13/18 | chr17 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61585649 | GTGATGGT others(109): Show |
G | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0091 | 1 | 106 | 0.0094 | -116 | c.170 others(21): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 13098482 | CGCTCCTC others(109): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0220 | 1 | 392 | 0.0026 | -116 | c.655 others(17): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 36/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CHMP6_chr17_80986841_81005133 | 80994734 | GGGGGGCC others(109): Show |
G | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0092 | 1 | 438 | 0.0023 | -116 | c.173 others(14): Show |
CHMP6 | ENSG00000176108.9 | transcript | ENST00000325167.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CLEC19A_chr16_19280731_19315947 | 19315064 | GAGGGGGA others(109): Show |
G | downstream_gene_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0098 | 1 | 426 | 0.0024 | -116 | c.*59 others(11): Show |
CLEC19A | ENSG00000261210.8 | transcript | ENST00000636231.2 | protein_coding | 4118 | chr16 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1323273 | TGGGCAGC others(109): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00733.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0267 a0001c0001t0001g0293 others(10): Show |
14 | 370 | 0.0378 | -116 | c.128 others(17): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1326725 | TACGGGGA others(109): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 370 | 0.0027 | -116 | c.108 others(18): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1329527 | AGCCTCAG others(109): Show |
A | intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 370 | 0.0027 | -116 | c.108 others(17): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 140490013 | TGTGTGTG others(109): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp1 others(13): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0008others(9): Show | a0001c0001t0025a0001c0001t0030a0001c0003t0012others(11): Show | a0001c0001t0025g0004 a0001c0001t0030g0059 a0001c0003t0012g0052 others(13): Show |
16 | 110 | 0.1455 | -116 | c.134 others(21): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | chr3 | TogoVar | |||||||
COL5A1_chr9_134636803_134849843 | 134759582 | CCACACAT others(109): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02922.hp2 HG03041.hp1 |
a0001 | a0001c0014 | a0001c0014t0001a0001c0014t0012a0001c0014t0046 | a0001c0014t0001g0022 a0001c0014t0012g0021 a0001c0014t0046g0020 |
3 | 272 | 0.0110 | -116 | c.193 others(19): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 18/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CPXM2_chr10_123740639_123896807 | 123790217 | TCAGAGCA others(109): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG01258.hp2 HG02258.hp1 others(2): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0009 | a0001c0003t0001a0001c0004t0002a0003c0009t0001 | a0001c0003t0001g0272 a0001c0004t0002g0156 a0003c0009t0001g0117 others(2): Show |
5 | 288 | 0.0174 | -116 | c.889 others(17): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 6/13 | chr10 | TogoVar | |||||||
CSRP2_chr12_76853709_76884019 | 76871060 | TTCATAAT others(109): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 a0001c0001t0003g0027 |
2 | 388 | 0.0052 | -116 | c.-1- others(15): Show |
CSRP2 | ENSG00000175183.10 | transcript | ENST00000311083.10 | protein_coding | 1/5 | chr12 | TogoVar | |||||||
CYP2R1_chr11_14872440_14897231 | 14879524 | GGATAACC others(109): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp1 HG02976.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0001a0001c0003t0001a0002c0005t0001 | a0001c0001t0001g0032 a0001c0003t0001g0039 a0001c0003t0001g0053 others(1): Show |
6 | 404 | 0.0149 | -116 | c.100 others(16): Show |
CYP2R1 | ENSG00000186104.11 | transcript | ENST00000334636.10 | protein_coding | 3/4 | chr11 | TogoVar | |||||||
CYP4F12_chr19_15668087_15702174 | 15673987 | CTACCCAC others(109): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(75): Show |
a0001a0002a0019 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0026 a0002c0002t0001g0001 a0002c0002t0001g0010 others(29): Show |
78 | 410 | 0.1902 | -116 | c.198 others(15): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DACH1_chr13_71432966_71872204 | 71779150 | CATATATA others(109): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03098.hp1 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0002g0032 a0001c0001t0002g0039 others(1): Show |
4 | 102 | 0.0392 | -116 | c.848 others(19): Show |
DACH1 | ENSG00000276644.5 | transcript | ENST00000613252.5 | protein_coding | 1/10 | chr13 | TogoVar |