regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKT3_chr1_243494724_243855243 | 243525837 | G | GGGAGGAG others(301): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 301 | 0.0033 | 308 | c.125 others(329): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105044600 | G | GGCCGGGC others(301): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG01255.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0004a0001c0002t0007a0001c0002t0009others(3): Show | a0001c0001t0004g0027a0001c0002t0007g0001a0001c0002t0007g0053others(16): Show | 20 | 386 | 0.0518 | 308 | c.186 others(327): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105044600 | G | GGCCGGGC others(301): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02717.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0015a0001c0002t0009g0019a0001c0002t0009g0048others(5): Show | 8 | 386 | 0.0207 | 308 | c.186 others(327): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALG5_chr13_36944738_37004340 | 36994603 | T | TAAAAGTT others(301): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01981.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007a0001c0001t0001g0028a0001c0001t0001g0029others(9): Show | 13 | 276 | 0.0471 | 308 | c.285 others(323): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 3/9 | chr13 | TogoVar | ||||||
ANK2_chr4_113044653_113388736 | 113097093 | T | TCACTTTT others(301): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0035 | 1 | 178 | 0.0056 | 308 | c.84+ others(325): Show |
ANK2 | ENSG00000145362.21 | transcript | ENST00000357077.9 | protein_coding | 1/45 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ANO3_chr11_26327130_26668289 | 26580099 | T | TTTTTTTT others(301): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG01168.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(11): Show | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0122others(23): Show | 26 | 190 | 0.1368 | 308 | c.144 others(329): Show |
ANO3 | ENSG00000134343.14 | transcript | ENST00000256737.8 | protein_coding | 14/26 | chr11 | TogoVar | ||||||
ANP32E_chr1_150213417_150241112 | 150227793 | T | TCAAATTT others(301): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01517.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0018 | 2 | 370 | 0.0054 | 308 | c.494 others(323): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60365044 | A | ATGGCAGT others(301): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267a0001c0001t0001g0269a0001c0001t0001g0272others(2): Show | 5 | 334 | 0.0150 | 308 | c.149 others(323): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 3/12 | chr15 | TogoVar | ||||||
ARHGAP44_chr17_12784498_12996643 | 12850387 | T | TAAGAAAT others(301): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0216 | 1 | 230 | 0.0044 | 308 | c.54- others(325): Show |
ARHGAP44 | ENSG00000006740.18 | transcript | ENST00000379672.10 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1849936 | G | GCGTGGAC others(301): Show |
intron_variant | MODIFIER | HG03041.hp2 NA21309.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0003a0001c0007t0003 | a0001c0002t0003g0348a0001c0007t0003g0352 | 2 | 363 | 0.0055 | 308 | c.37+ others(323): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1849938 | G | GTGGACAC others(301): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0183 | 1 | 363 | 0.0028 | 308 | c.37+ others(323): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1850026 | A | ATGGACAC others(301): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0006 | a0006c0099 | a0006c0099t0002 | a0006c0099t0002g0087 | 1 | 363 | 0.0028 | 308 | c.37+ others(323): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1850152 | G | GGCTGCAT others(301): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0154 | a0001c0154t0009 | a0001c0154t0009g0265 | 1 | 363 | 0.0028 | 308 | c.37+ others(323): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1850159 | T | TGGACACA others(301): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0018 | 1 | 363 | 0.0028 | 308 | c.37+ others(323): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1850159 | T | TGGACACA others(301): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0025 | a0002c0025t0013 | a0002c0025t0013g0116 | 1 | 363 | 0.0028 | 308 | c.37+ others(323): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1850159 | T | TGGACACA others(301): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0026 | 1 | 363 | 0.0028 | 308 | c.37+ others(323): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF10_chr8_1818926_1963641 | 1850188 | C | CGTGGGCC others(301): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0242 | 1 | 363 | 0.0028 | 308 | c.37+ others(323): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ARHGEF28_chr5_73621196_73946990 | 73850085 | T | TGTTATTT others(301): Show |
intron_variant | MODIFIER | NA18978.hp1 NA18988.hp2 |
a0005a0027 | a0005c0024a0027c0035 | a0005c0024t0001a0027c0035t0001 | a0005c0024t0001g0054a0027c0035t0001g0068 | 2 | 188 | 0.0106 | 308 | c.174 others(327): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 13/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ARL13B_chr3_93975155_94060678 | 94043558 | C | CTCCCCCC others(301): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 264 | 0.0038 | 308 | c.102 others(325): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
ARL13B_chr3_93975155_94060678 | 94043558 | C | CTCCCCCC others(301): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 264 | 0.0038 | 308 | c.102 others(325): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
ARL13B_chr3_93975155_94060678 | 94043558 | C | CTCCCCCC others(301): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217 | 1 | 264 | 0.0038 | 308 | c.102 others(325): Show |
ARL13B | ENSG00000169379.17 | transcript | ENST00000394222.8 | protein_coding | 7/9 | chr3 | TogoVar | ||||||
ASB16_chr17_44165704_44184084 | 44181119 | C | CGCCCGGC others(301): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0097 | 1 | 362 | 0.0028 | 308 | c.*27 others(319): Show |
ASB16 | ENSG00000161664.7 | transcript | ENST00000293414.6 | protein_coding | 2036 | chr17 | TogoVar | ||||||
ASB16_chr17_44165704_44184084 | 44181119 | C | CGCCCGGC others(301): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG01934.hp2 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0010a0003c0003t0001g0017a0003c0003t0001g0029others(3): Show | 7 | 362 | 0.0193 | 308 | c.*27 others(319): Show |
ASB16 | ENSG00000161664.7 | transcript | ENST00000293414.6 | protein_coding | 2036 | chr17 | TogoVar | ||||||
ASPG_chr14_104080700_104120582 | 104085481 | G | GCACCCCG others(301): Show |
upstream_gene_variant | MODIFIER | HG03927.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0091 | 1 | 368 | 0.0027 | 308 | c.-29 others(317): Show |
ASPG | ENSG00000166183.16 | transcript | ENST00000551177.6 | protein_coding | 218 | chr14 | TogoVar | ||||||
ASXL2_chr2_25728753_25883487 | 25789269 | T | TAAGAATC others(301): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03130.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0017 | a0001c0001t0016g0002a0001c0001t0017g0004a0001c0001t0017g0005 | 3 | 222 | 0.0135 | 308 | c.403 others(327): Show |
ASXL2 | ENSG00000143970.18 | transcript | ENST00000435504.9 | protein_coding | 5/12 | chr2 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25757844 | C | CCACCTGC others(301): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0022 | 1 | 300 | 0.0033 | 308 | c.655 others(327): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10A_chr15_25673712_25868327 | 25758817 | C | CGACCACC others(301): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0016 | a0016c0077 | a0016c0077t0001 | a0016c0077t0001g0181 | 1 | 300 | 0.0033 | 308 | c.654 others(327): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
ATP10D_chr4_47480275_47598486 | 47494500 | T | TAAAGTTA others(301): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0037 | a0037c0053 | a0037c0053t0001 | a0037c0053t0001g0182 | 1 | 332 | 0.0030 | 308 | c.-38 others(325): Show |
ATP10D | ENSG00000145246.14 | transcript | ENST00000273859.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ATP11A_chr13_112685038_112892168 | 112723285 | T | TCCCCCAC others(301): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0009 | a0001c0009t0004 | a0001c0009t0004g0140 | 1 | 254 | 0.0039 | 308 | c.39+ others(325): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79327515 | G | GTTAGCGT others(301): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02723.hp2 HG02922.hp1 others(1): Show |
a0003a0010 | a0003c0007a0003c0021a0010c0029 | a0003c0007t0004a0003c0021t0004a0010c0029t0004 | a0003c0007t0004g0287a0003c0007t0004g0288a0003c0021t0004g0284others(1): Show | 4 | 298 | 0.0134 | 308 | c.177 others(327): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
AUH_chr9_91208823_91366918 | 91318187 | T | TAAAAGTA others(301): Show |
intron_variant | MODIFIER | HG02132.hp1 NA18982.hp1 NA19002.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(3): Show | 6 | 358 | 0.0168 | 308 | c.505 others(325): Show |
AUH | ENSG00000148090.12 | transcript | ENST00000375731.9 | protein_coding | 4/9 | chr9 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 545902 | T | TGAGAGGA others(301): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0019 | a0019c0037 | a0019c0037t0002 | a0019c0037t0002g0227 | 1 | 394 | 0.0025 | 308 | c.639 others(323): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 6/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374880 | G | GAGGGAGG others(301): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0154 | 1 | 184 | 0.0054 | 308 | c.784 others(323): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
B4GALNT4_chr11_364499_387117 | 374880 | G | GAGGGAGG others(301): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0032 | a0002c0032t0001 | a0002c0032t0001g0121 | 1 | 184 | 0.0054 | 308 | c.784 others(323): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BAIAP2L1_chr7_98286650_98406090 | 98400363 | G | GGGAGGGA others(301): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0231 | 1 | 298 | 0.0034 | 308 | c.51+ others(321): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | ||||||
BPIFB1_chr20_33278214_33314871 | 33285423 | G | GCTAGGCC others(301): Show |
intron_variant | MODIFIER | HG02572.hp2 NA18522.hp1 |
a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0043 | 2 | 388 | 0.0052 | 308 | c.-41 others(323): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BRINP3_chr1_190092658_190482864 | 190437073 | C | CTGGCTAC others(301): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0008 | 1 | 240 | 0.0042 | 308 | c.236 others(327): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
BTD_chr3_15596745_15658714 | 15597657 | T | TGGATCAT others(301): Show |
upstream_gene_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0253 | 1 | 416 | 0.0024 | 308 | c.-42 others(319): Show |
BTD | ENSG00000169814.17 | transcript | ENST00000643237.3 | protein_coding | 4087 | chr3 | TogoVar | ||||||
C1QTNF8_chr16_1083226_1101244 | 1092754 | A | AGCACACA others(301): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01175.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0016a0001c0001t0017others(2): Show | a0001c0001t0005g0004a0001c0001t0005g0025a0001c0001t0005g0075others(8): Show | 32 | 396 | 0.0808 | 308 | c.*4+ others(321): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
C1QTNF8_chr16_1083226_1101244 | 1092978 | T | TGCACACA others(301): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01256.hp2 HG01258.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014a0001c0001t0037 | a0001c0001t0004g0124a0001c0001t0004g0127a0001c0001t0014g0021others(1): Show | 6 | 396 | 0.0152 | 308 | c.*4+ others(321): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
C1QTNF8_chr16_1083226_1101244 | 1092978 | T | TGCACACA others(301): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0005 | a0005c0009 | a0005c0009t0031 | a0005c0009t0031g0066 | 1 | 396 | 0.0025 | 308 | c.*4+ others(321): Show |
C1QTNF8 | ENSG00000184471.10 | transcript | ENST00000328449.6 | protein_coding | 4/4 | chr16 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411041 | C | CGCCCCTG others(301): Show |
upstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0002 | a0001c0002t0028 | a0001c0002t0028g0037 | 2 | 322 | 0.0062 | 308 | c.-20 others(319): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1895 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411055 | C | CCGGATCC others(301): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0078 | 1 | 322 | 0.0031 | 308 | c.-20 others(319): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1909 | chr19 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208176973 | A | ATCTGTAT others(301): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0169 | 1 | 342 | 0.0029 | 308 | c.366 others(325): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56885370 | T | TTATATTT others(301): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 366 | 0.0027 | 308 | c.856 others(323): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1191190 | C | CTCTGACC others(301): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02922.hp1 |
a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0201a0002c0011t0002g0203 | 2 | 338 | 0.0059 | 308 | c.300 others(325): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39602018 | C | CTCCTTCC others(301): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0184 | 1 | 236 | 0.0042 | 308 | c.482 others(325): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CACNA1I_chr22_39565753_39694735 | 39602018 | C | CTCCTTCC others(301): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0219 | 1 | 236 | 0.0042 | 308 | c.482 others(325): Show |
CACNA1I | ENSG00000100346.18 | transcript | ENST00000402142.4 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CALCOCO2_chr17_48826035_48870245 | 48858046 | A | ATAGAATA others(301): Show |
intron_variant | MODIFIER | HG03704.hp2 NA18989.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0009 | a0001c0001t0002g0171a0003c0003t0009g0240 | 2 | 328 | 0.0061 | 308 | c.100 others(327): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | chr17 | TogoVar | ||||||
CALN1_chr7_71774491_72417338 | 72209270 | C | CTCCTTCC others(301): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0135 | 1 | 142 | 0.0070 | 308 | c.244 others(327): Show |
CALN1 | ENSG00000183166.12 | transcript | ENST00000395275.7 | protein_coding | 3/6 | chr7 | TogoVar |