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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTLL8_chr22_50013575_50063298 | 50029276 | ACCCCACA others(80): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02451.hp2 NA18963.hp1 |
a0004a0005 | a0004c0004a0005c0005 | a0004c0004t0002a0005c0005t0002 | a0004c0004t0002g0038 a0004c0004t0002g0161 a0005c0005t0002g0126 |
3 | 224 | 0.0134 | -87 | c.225 others(106): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TTLL8_chr22_50013575_50063298 | 50029330 | CCTCGTAA others(80): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0187 | 1 | 224 | 0.0045 | -87 | c.225 others(106): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TUBGCP2_chr10_133273635_133313872 | 133291947 | CTCCGTGT others(80): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0011 | a0011c0026 | a0011c0026t0001 | a0011c0026t0001g0227 | 1 | 284 | 0.0035 | -87 | c.121 others(104): Show |
TUBGCP2 | ENSG00000130640.15 | transcript | ENST00000252936.8 | protein_coding | 8/17 | chr10 | TogoVar | |||||||
TYMS_chr18_652653_678578 | 667376 | TGATGGTG others(80): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0351 | 1 | 482 | 0.0021 | -87 | c.455 others(104): Show |
TYMS | ENSG00000176890.16 | transcript | ENST00000323274.15 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
UNC5A_chr5_176805559_176885898 | 176859133 | GCCCTTGC others(80): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0083 a0001c0001t0007g0242 a0001c0001t0007g0247 |
3 | 268 | 0.0112 | -87 | c.71- others(102): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
UNC5A_chr5_176805559_176885898 | 176859163 | GTCCTTGC others(80): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG02818.hp1 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0235 a0001c0005t0002g0241 |
2 | 268 | 0.0075 | -87 | c.71- others(102): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
UNC5A_chr5_176805559_176885898 | 176859466 | GTCCTTGC others(80): Show |
G | intron_variant | MODIFIER | HG03098.hp2 HG03453.hp1 |
a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0005 | 2 | 268 | 0.0075 | -87 | c.71- others(102): Show |
UNC5A | ENSG00000113763.12 | transcript | ENST00000329542.9 | protein_coding | 1/14 | chr5 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1397263 | TCCCCGTG others(80): Show |
T | frameshift_variant others(3): Show |
HIGH | HG00438.hp2 HG00733.hp1 HG01934.hp1 others(9): Show |
a0002 | a0002c0002a0002c0035 | a0002c0002t0001a0002c0002t0002a0002c0002t0008others(3): Show | a0002c0002t0001g0190 a0002c0002t0001g0192 a0002c0002t0001g0239 others(9): Show |
12 | 322 | 0.0373 | -87 | c.735 others(97): Show |
p.Ser others(5): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 6/15 | 779/5250 | 735/2202 | 245/733 | chr16 | TogoVar | |||
UNKL_chr16_1358205_1419704 | 1397435 | CACCCCCG others(80): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0025 | a0001c0001t0004g0306 a0001c0001t0025g0304 a0001c0001t0025g0305 |
3 | 322 | 0.0093 | -87 | c.735 others(102): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 5/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1397464 | GTGGACCT others(80): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01884.hp1 HG02055.hp2 others(12): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0010a0001c0001t0029a0001c0003t0012others(8): Show | a0001c0001t0010g0063 a0001c0001t0029g0061 a0001c0003t0012g0055 others(12): Show |
15 | 322 | 0.0466 | -87 | c.735 others(102): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 5/14 | chr16 | TogoVar | |||||||
UNKL_chr16_1358205_1419704 | 1397638 | GTGGACCT others(80): Show |
G | intron_variant | MODIFIER | NA19002.hp1 NA19012.hp2 NA19082.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0052 |
3 | 322 | 0.0093 | -87 | c.735 others(102): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 5/14 | chr16 | TogoVar | |||||||
VWF_chr12_5943877_6129670 | 6109236 | CACAGACA others(80): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG03486.hp2 NA19240.hp2 |
a0041a0085a0117 | a0041c0046a0085c0045a0117c0047 | a0041c0046t0001a0085c0045t0001a0117c0047t0001 | a0041c0046t0001g0282 a0085c0045t0001g0283 a0117c0047t0001g0284 |
3 | 288 | 0.0104 | -87 | c.532 others(104): Show |
VWF | ENSG00000110799.14 | transcript | ENST00000261405.10 | protein_coding | 5/51 | chr12 | TogoVar | |||||||
ZMAT4_chr8_40525590_40902826 | 40601618 | GAAAGAAA others(80): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00597.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0029 others(28): Show |
31 | 228 | 0.1360 | -87 | c.578 others(106): Show |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 5/6 | chr8 | TogoVar | |||||||
ZNF440_chr19_11809273_11840216 | 11811897 | AAAGAAAG others(80): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp1 NA19030.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 a0002c0002t0002g0203 |
2 | 376 | 0.0053 | -87 | c.-25 others(98): Show |
ZNF440 | ENSG00000171295.13 | transcript | ENST00000304060.10 | protein_coding | 2375 | chr19 | TogoVar | |||||||
ZNF491_chr19_11793523_11813503 | 11811897 | AAAGAAAG others(80): Show |
A | downstream_gene_variant | MODIFIER | HG02559.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0016 |
2 | 390 | 0.0051 | -87 | c.*46 others(98): Show |
ZNF491 | ENSG00000177599.13 | transcript | ENST00000323169.10 | protein_coding | 3395 | chr19 | TogoVar | |||||||
ZNF713_chr7_55882456_55947225 | 55887716 | CGGAGGCG others(80): Show |
C | intron_variant | MODIFIER | NA18971.hp2 NA18981.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 a0001c0001t0003g0070 |
2 | 410 | 0.0049 | -87 | c.-58 others(103): Show |
ZNF713 | ENSG00000178665.16 | transcript | ENST00000429591.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ZSCAN4_chr19_57663935_57684152 | 57670275 | AGACATGG others(80): Show |
A | 5_prime_UTR_variant | MODIFIER | HG01257.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0001 | 2 | 426 | 0.0047 | -87 | c.-30 others(96): Show |
ZSCAN4 | ENSG00000180532.12 | transcript | ENST00000318203.9 | protein_coding | 2/5 | 5695 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AATK_chr17_81112295_81171221 | 81140708 | GGTGAGAC others(79): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 |
a0007a0021 | a0007c0008a0021c0052 | a0007c0008t0001a0021c0052t0006 | a0007c0008t0001g0229 a0021c0052t0006g0228 |
2 | 368 | 0.0054 | -86 | c.56- others(101): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABCC10_chr6_43422541_43455427 | 43448332 | TTACCTCC others(79): Show |
T | intron_variant | MODIFIER | NA19011.hp2 | a0013 | a0013c0022 | a0013c0022t0004 | a0013c0022t0004g0092 | 1 | 342 | 0.0029 | -86 | c.395 others(103): Show |
ABCC10 | ENSG00000124574.15 | transcript | ENST00000372530.9 | protein_coding | 18/21 | chr6 | TogoVar | |||||||
ABLIM2_chr4_7960327_8163813 | 8131623 | TGCATCCC others(79): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01106.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0109 a0001c0001t0002g0110 a0001c0001t0002g0310 others(1): Show |
4 | 322 | 0.0124 | -86 | c.11- others(103): Show |
ABLIM2 | ENSG00000163995.22 | transcript | ENST00000447017.7 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1065051 | ACTGTTGT others(79): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0109 | 1 | 337 | 0.0030 | -86 | c.118 others(105): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118551 | TCGCTGAG others(79): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01074.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0006 | a0001c0001t0005a0001c0005t0048a0003c0006t0001 | a0001c0001t0005g0315 a0001c0005t0048g0198 a0003c0006t0001g0186 others(1): Show |
4 | 337 | 0.0119 | -86 | c.246 others(103): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ACSL5_chr10_112369116_112433376 | 112376973 | GTAAGCAC others(79): Show |
G | intron_variant | MODIFIER | HG02976.hp1 HG03098.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 others(2): Show |
5 | 364 | 0.0137 | -86 | c.-30 others(103): Show |
ACSL5 | ENSG00000197142.11 | transcript | ENST00000354655.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADAMTS2_chr5_179105853_179350461 | 179313546 | ACACATCG others(79): Show |
A | intron_variant | MODIFIER | HG01433.hp2 | a0018 | a0018c0072 | a0018c0072t0005 | a0018c0072t0005g0044 | 1 | 276 | 0.0036 | -86 | c.534 others(105): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179313660 | GGAGCAGG others(79): Show |
G | intron_variant | MODIFIER | HG00140.hp2 NA19074.hp1 |
a0001a0002 | a0001c0018a0002c0006 | a0001c0018t0002a0002c0006t0004 | a0001c0018t0002g0178 a0002c0006t0004g0275 |
2 | 276 | 0.0073 | -86 | c.534 others(105): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179313704 | GTGCACAC others(79): Show |
G | intron_variant | MODIFIER | NA19070.hp2 | a0016 | a0016c0027 | a0016c0027t0004 | a0016c0027t0004g0098 | 1 | 276 | 0.0036 | -86 | c.534 others(105): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179313809 | CCGAGACA others(79): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02622.hp2 others(3): Show |
a0001a0002a0003 | a0001c0014a0001c0066a0001c0075others(3): Show | a0001c0014t0002a0001c0066t0002a0001c0075t0004others(3): Show | a0001c0014t0002g0131 a0001c0066t0002g0118 a0001c0075t0004g0062 others(3): Show |
6 | 276 | 0.0217 | -86 | c.534 others(105): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 2/21 | chr5 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133113058 | TGTCAGTT others(79): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00639.hp2 others(24): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0017a0001c0001t0024others(10): Show | a0001c0001t0002g0076 a0001c0001t0002g0097 a0001c0001t0002g0101 others(22): Show |
27 | 368 | 0.0734 | -86 | c.401 others(105): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADM2_chr22_50476543_50491437 | 50488407 | TGGTGCTT others(79): Show |
T | downstream_gene_variant | MODIFIER | HG02145.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020 | a0001c0001t0004g0001 a0001c0001t0020g0001 |
2 | 446 | 0.0045 | -86 | c.*55 others(97): Show |
ADM2 | ENSG00000128165.9 | transcript | ENST00000395737.2 | protein_coding | 1971 | chr22 | TogoVar | |||||||
AGBL1_chr15_86074871_86921156 | 86827300 | TATGTATA others(79): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 |
a0001 | a0001c0001a0001c0053 | a0001c0001t0008a0001c0053t0008 | a0001c0001t0008g0102 a0001c0053t0008g0012 |
2 | 132 | 0.0152 | -86 | c.315 others(107): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15322507 | TATATATA others(79): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 236 | 0.0042 | -86 | c.126 others(107): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15322641 | AATATATA others(79): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG03225.hp2 HG03486.hp2 |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0004a0002c0002t0001 | a0001c0005t0004g0002 a0002c0002t0001g0060 a0002c0002t0001g0061 |
3 | 236 | 0.0127 | -86 | c.126 others(107): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGRN_chr1_1015120_1061116 | 1041026 | CGGAGCGG others(79): Show |
C | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0060 | a0001c0060t0012 | a0001c0060t0012g0162 | 1 | 210 | 0.0048 | -86 | c.728 others(100): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 4/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344395 | TGGGGAGG others(79): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0004 | a0004c0003 | a0004c0003t0024 | a0004c0003t0024g0029 | 1 | 268 | 0.0037 | -86 | c.62+ others(99): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63400221 | ACGTATAT others(79): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0197 | 1 | 388 | 0.0026 | -86 | c.168 others(103): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | |||||||
ALOX5_chr10_45369216_45451117 | 45443652 | ATCCGGGC others(79): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18960.hp1 | a0007 | a0007c0019 | a0007c0019t0001 | a0007c0019t0001g0226 | 1 | 345 | 0.0029 | -86 | c.157 others(98): Show |
p.Phe others(5): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 12/14 | 1574/2025 | 525/674 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||
AMTN_chr4_70513569_70537743 | 70516318 | ATATATAC others(79): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 458 | 0.0022 | -86 | c.-23 others(97): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2250 | chr4 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132759118 | CGCAGAGT others(79): Show |
C | intron_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0278 | 1 | 350 | 0.0029 | -86 | c.181 others(103): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
AP5S1_chr20_3815547_3833838 | 3831615 | TATATATA others(79): Show |
T | downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 412 | 0.0024 | -86 | c.*73 others(97): Show |
AP5S1 | ENSG00000125843.11 | transcript | ENST00000615891.2 | protein_coding | 2778 | chr20 | TogoVar | |||||||
ARHGEF10L_chr1_17534698_17702869 | 17556234 | AGCCTGGG others(79): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 HG06807.hp1 others(1): Show |
a0001a0004a0007 | a0001c0001a0001c0017a0004c0006others(1): Show | a0001c0001t0003a0001c0017t0002a0004c0006t0002others(1): Show | a0001c0001t0003g0114 a0001c0017t0002g0113 a0004c0006t0002g0108 others(1): Show |
4 | 168 | 0.0238 | -86 | c.-44 others(105): Show |
ARHGEF10L | ENSG00000074964.17 | transcript | ENST00000361221.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1849733 | AGCAAATG others(79): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0362 | 1 | 363 | 0.0028 | -86 | c.37+ others(101): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1850267 | TGAGGAGG others(79): Show |
T | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0274 | 1 | 363 | 0.0028 | -86 | c.37+ others(101): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARHGEF10_chr8_1818926_1963641 | 1888549 | GGTGAGGT others(79): Show |
G | intron_variant | MODIFIER | NA19064.hp1 NA19091.hp2 |
a0001 | a0001c0114a0001c0116 | a0001c0114t0017a0001c0116t0017 | a0001c0114t0017g0124 a0001c0116t0017g0122 |
2 | 363 | 0.0055 | -86 | c.118 others(105): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 11/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112755735 | GGTCACGG others(79): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG02976.hp1 HG03225.hp2 |
a0001a0008 | a0001c0014a0008c0023 | a0001c0014t0003a0001c0014t0043a0008c0023t0002 | a0001c0014t0003g0178 a0001c0014t0043g0056 a0008c0023t0002g0064 |
3 | 254 | 0.0118 | -86 | c.40- others(103): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ATP11A_chr13_112685038_112892168 | 112803739 | CCCCTCCT others(79): Show |
C | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0028 | a0001c0028t0002 | a0001c0028t0002g0136 | 1 | 254 | 0.0039 | -86 | c.163 others(103): Show |
ATP11A | ENSG00000068650.19 | transcript | ENST00000375645.8 | protein_coding | 2/29 | chr13 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97678880 | GGTGTGTG others(79): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 446 | 0.0022 | -86 | c.287 others(101): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
B3GALT1_chr2_167288001_167879045 | 167876011 | ATATATAC others(79): Show |
A | downstream_gene_variant | MODIFIER | HG06807.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0024 a0001c0001t0011g0050 |
2 | 118 | 0.0170 | -86 | c.*59 others(97): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1967 | chr2 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83003302 | CTCCGCAG others(79): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG02486.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0011a0001c0001t0039others(1): Show | a0001c0001t0002g0133 a0001c0001t0002g0174 a0001c0001t0011g0067 others(2): Show |
5 | 266 | 0.0188 | -86 | c.459 others(103): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
BACE2_chr21_41163160_41287530 | 41249305 | CTCAGGGG others(79): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0071 | 1 | 272 | 0.0037 | -86 | c.985 others(103): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32346552 | ATATATAT others(79): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02683.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0031 | a0001c0002t0001g0178 a0001c0002t0001g0224 a0001c0002t0004g0002 others(1): Show |
4 | 290 | 0.0138 | -86 | c.276 others(105): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |