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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGEF18_chr19_7343937_7477478 | 7362071 | GAGAAGGA others(83): Show |
G | intron_variant | MODIFIER | HG02615.hp1 HG03579.hp1 |
a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0016a0002c0007t0001g0017 | 2 | 298 | 0.0067 | -90 | c.-11 others(107): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARHGEF18_chr19_7343937_7477478 | 7362083 | GAGAAGGA others(83): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG06807.hp2 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0016 | a0001c0001t0002g0086a0001c0001t0005g0031a0001c0001t0016g0073 | 3 | 298 | 0.0101 | -90 | c.-11 others(107): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ARSH_chrX_3001546_3039111 | 3036997 | TATATATA others(83): Show |
T | downstream_gene_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 248 | 0.0040 | -90 | c.*36 others(101): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2887 | chrX | TogoVar | ||||||
ARVCF_chr22_19964896_20021823 | 20020243 | TCCCTAAT others(83): Show |
T | upstream_gene_variant | MODIFIER | NA18983.hp1 | a0003 | a0003c0017 | a0003c0017t0006 | a0003c0017t0006g0243 | 1 | 374 | 0.0027 | -90 | c.-38 others(101): Show |
ARVCF | ENSG00000099889.14 | transcript | ENST00000263207.8 | protein_coding | 3421 | chr22 | TogoVar | ||||||
ATP8B1_chr18_57641426_57808315 | 57732255 | ATATATGT others(83): Show |
A | intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0249 | 1 | 314 | 0.0032 | -90 | c.-25 others(105): Show |
ATP8B1 | ENSG00000081923.15 | transcript | ENST00000648908.2 | protein_coding | 1/27 | chr18 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167875977 | ATATATAC others(83): Show |
A | downstream_gene_variant | MODIFIER | NA18612.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0037 | a0001c0001t0014g0017a0001c0001t0037g0044 | 2 | 118 | 0.0170 | -90 | c.*59 others(101): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1933 | chr2 | TogoVar | ||||||
B3GALT1_chr2_167288001_167879045 | 167875993 | ATATATAT others(83): Show |
A | downstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0020 | 1 | 118 | 0.0085 | -90 | c.*59 others(101): Show |
B3GALT1 | ENSG00000172318.6 | transcript | ENST00000392690.4 | protein_coding | 1949 | chr2 | TogoVar | ||||||
BCL11A_chr2_60452194_60558654 | 60467918 | GTGGTGGT others(83): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG03471.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013 | a0001c0001t0001g0032a0001c0001t0003g0160a0001c0001t0013g0250 | 3 | 262 | 0.0115 | -90 | c.487 others(105): Show |
BCL11A | ENSG00000119866.22 | transcript | ENST00000642384.2 | protein_coding | 3/3 | chr2 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32346548 | ATATATAT others(83): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02257.hp1 HG03195.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0016a0001c0001t0019a0001c0001t0039others(6): Show | a0001c0001t0016g0041a0001c0001t0019g0185a0001c0001t0039g0100others(7): Show | 10 | 290 | 0.0345 | -90 | c.276 others(109): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BOP1_chr8_144257045_144296438 | 144280939 | GTTTAATA others(83): Show |
G | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 398 | 0.0025 | -90 | c.310 others(107): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281059 | CTTTCATA others(83): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG02015.hp1 others(10): Show |
a0001a0017 | a0001c0001a0017c0024 | a0001c0001t0001a0017c0024t0001 | a0001c0001t0001g0028a0001c0001t0001g0068a0001c0001t0001g0069others(10): Show | 13 | 398 | 0.0327 | -90 | c.310 others(107): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281063 | CATACCAG others(83): Show |
C | intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 398 | 0.0025 | -90 | c.310 others(107): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281084 | TCTCACTT others(83): Show |
T | intron_variant | MODIFIER | HG01978.hp2 HG03491.hp1 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093a0001c0001t0001g0182a0001c0001t0001g0208 | 3 | 398 | 0.0075 | -90 | c.310 others(107): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281106 | CGGCCTTC others(83): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0214a0001c0001t0001g0215others(1): Show | 5 | 398 | 0.0126 | -90 | c.310 others(107): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281144 | TCTCAGTT others(83): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 398 | 0.0025 | -90 | c.310 others(107): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281183 | CATACCAG others(83): Show |
C | intron_variant | MODIFIER | HG01243.hp2 NA18979.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0159a0001c0012t0001g0090 | 2 | 398 | 0.0050 | -90 | c.310 others(107): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281299 | CTTTCATA others(83): Show |
C | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 398 | 0.0025 | -90 | c.310 others(107): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281346 | CGGCCTTC others(83): Show |
C | intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 398 | 0.0025 | -90 | c.310 others(107): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281384 | CCTCAGTT others(83): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0167 | 1 | 398 | 0.0025 | -90 | c.310 others(107): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281414 | TCTCACTT others(83): Show |
T | intron_variant | MODIFIER | HG02055.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0160a0001c0002t0001g0035 | 2 | 398 | 0.0050 | -90 | c.310 others(107): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281419 | CTTTCATA others(83): Show |
C | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 398 | 0.0025 | -90 | c.310 others(107): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BOP1_chr8_144257045_144296438 | 144281444 | TCTCAGTT others(83): Show |
T | intron_variant | MODIFIER | HG02738.hp1 HG03942.hp1 NA18979.hp2 others(2): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0059a0001c0001t0001g0127a0001c0001t0001g0155others(2): Show | 5 | 398 | 0.0126 | -90 | c.310 others(107): Show |
BOP1 | ENSG00000261236.8 | transcript | ENST00000569669.6 | protein_coding | 2/15 | chr8 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38166082 | CCACCCGC others(83): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG02074.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0046a0001c0001t0066others(11): Show | a0001c0001t0029g0048a0001c0001t0046g0119a0001c0001t0066g0077others(11): Show | 14 | 224 | 0.0625 | -90 | c.*88 others(101): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 2368 | chr6 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24308663 | GCTCCTGC others(83): Show |
G | upstream_gene_variant | MODIFIER | NA18948.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 466 | 0.0043 | -90 | c.-97 others(99): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 916 | chr13 | TogoVar | ||||||
C1orf116_chr1_207013522_207037756 | 207037363 | CTTCCCTT others(83): Show |
C | upstream_gene_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0009 | 1 | 390 | 0.0026 | -90 | c.-49 others(101): Show |
C1orf116 | ENSG00000182795.13 | transcript | ENST00000359470.6 | protein_coding | 4608 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1077103 | GCTACGGG others(83): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0105a0001c0001t0007g0143a0001c0001t0007g0146others(5): Show | 8 | 326 | 0.0245 | -90 | c.*57 others(101): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4719 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1077539 | GCCGAGAG others(83): Show |
G | downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 326 | 0.0031 | -90 | c.*52 others(101): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 4283 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1078021 | CGGGAGGC others(83): Show |
C | downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 326 | 0.0031 | -90 | c.*47 others(101): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3801 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1078033 | TCTATGGG others(83): Show |
T | downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 326 | 0.0031 | -90 | c.*47 others(101): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3789 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1078205 | AGGCTGAG others(83): Show |
A | downstream_gene_variant | MODIFIER | HG02647.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0068a0001c0001t0003g0022 | 2 | 326 | 0.0061 | -90 | c.*45 others(101): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3617 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1078745 | AGGCTGAG others(83): Show |
A | downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 326 | 0.0031 | -90 | c.*40 others(101): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3077 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1078771 | GGGGAGGC others(83): Show |
G | downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0102 | 1 | 326 | 0.0031 | -90 | c.*40 others(101): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3051 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1078835 | TGGCTGAG others(83): Show |
T | downstream_gene_variant | MODIFIER | HG01106.hp2 HG02015.hp2 HG02027.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(9): Show | 12 | 326 | 0.0368 | -90 | c.*39 others(101): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 2987 | chr1 | TogoVar | ||||||
C1orf159_chr1_1076823_1121089 | 1108276 | CCACCACA others(83): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02559.hp1 HG02572.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0205a0001c0001t0001g0234a0001c0001t0001g0235others(8): Show | 11 | 326 | 0.0337 | -90 | c.-13 others(109): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41891107 | GGACTGCT others(83): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(55): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0004a0001c0001t0013a0001c0001t0036others(19): Show | a0001c0001t0004g0038a0001c0001t0004g0099a0001c0001t0004g0113others(55): Show | 58 | 396 | 0.1465 | -90 | c.187 others(109): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 13/13 | chr21 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 404225 | GGGACGGG others(83): Show |
G | downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0021 | 1 | 322 | 0.0031 | -90 | c.*27 others(101): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1219 | chr19 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016116 | GCAGCACA others(83): Show |
G | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0309a0001c0001t0011g0311 | 2 | 326 | 0.0061 | -90 | c.130 others(107): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
CACNB2_chr10_18135424_18548557 | 18442910 | ATATATAT others(83): Show |
A | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0041 | 1 | 200 | 0.0050 | -90 | c.333 others(109): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000324631.13 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNB2_chr10_18335709_18548557 | 18442910 | ATATATAT others(83): Show |
A | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0148 | 1 | 302 | 0.0033 | -90 | c.171 others(109): Show |
CACNB2 | ENSG00000165995.24 | transcript | ENST00000377329.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
CACNG3_chr16_24251335_24367412 | 24317627 | ACAGACAG others(83): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0157a0001c0001t0004g0331 | 2 | 366 | 0.0055 | -90 | c.212 others(109): Show |
CACNG3 | ENSG00000006116.4 | transcript | ENST00000005284.4 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12401093 | TATTATAT others(83): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0153 | 1 | 214 | 0.0047 | -90 | c.92+ others(107): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
CAMK2B_chr7_44212154_44330594 | 44227397 | GGAGAGTC others(83): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00621.hp1 others(4): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0006a0001c0002t0017others(1): Show | a0001c0002t0001g0101a0001c0002t0001g0126a0001c0002t0001g0161others(4): Show | 7 | 242 | 0.0289 | -90 | c.146 others(107): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 19/23 | chr7 | TogoVar | ||||||
CAMKMT_chr2_44356947_44777592 | 44409093 | ATATATAT others(83): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02145.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0020others(4): Show | 7 | 198 | 0.0354 | -90 | c.376 others(109): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7474135 | CCTATTAG others(83): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 HG03486.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0011others(5): Show | a0001c0001t0002g0002a0001c0001t0004g0026a0001c0001t0011g0058others(5): Show | 8 | 58 | 0.1379 | -90 | c.510 others(107): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMTA1_chr1_6780454_7774706 | 7506969 | GCACTTGC others(83): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0017 | a0001c0017t0026 | a0001c0017t0026g0027 | 1 | 58 | 0.0172 | -90 | c.510 others(109): Show |
CAMTA1 | ENSG00000171735.21 | transcript | ENST00000303635.12 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CANT1_chr17_78986716_79014764 | 79004637 | GGAGAGGG others(83): Show |
G | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 394 | 0.0025 | -90 | c.-14 others(109): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79005025 | GAAGGGAG others(83): Show |
G | intron_variant | MODIFIER | HG03017.hp2 NA18962.hp1 NA18967.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0099a0001c0002t0002g0103a0001c0003t0002g0065 | 3 | 394 | 0.0076 | -90 | c.-14 others(109): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CCDC169_chr13_36225775_36302814 | 36232642 | AAAAAAAG others(83): Show |
A | intron_variant | MODIFIER | NA19070.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0286 | 1 | 364 | 0.0028 | -90 | c.546 others(107): Show |
CCDC169 | ENSG00000242715.8 | transcript | ENST00000239859.8 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
CCDC187_chr9_136244973_136309094 | 136307986 | TTCATACA others(83): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(280): Show |
a0001a0002a0003others(150): Show | a0001c0002a0001c0012a0001c0112others(174): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0028others(220): Show | a0001c0002t0001g0070a0001c0002t0001g0074a0001c0002t0001g0211others(274): Show | 283 | 400 | 0.7075 | -90 | c.-42 others(101): Show |
CCDC187 | ENSG00000260220.7 | transcript | ENST00000638797.2 | protein_coding | 3893 | chr9 | TogoVar | ||||||
CCDC38_chr12_95862048_95947614 | 95908594 | AGAGGGAG others(83): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02970.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0037a0002c0004t0001g0130 | 2 | 350 | 0.0057 | -90 | c.305 others(107): Show |
CCDC38 | ENSG00000165972.13 | transcript | ENST00000344280.8 | protein_coding | 4/15 | chr12 | TogoVar |