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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEL1L2_chr20_13844247_13995614 | 13934322 | G | GTATTCCA others(596): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 283 | 0.0035 | 603 | c.115 others(620): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEPTIN9_chr17_77276499_77505593 | 77356680 | T | TCCCCCTC others(596): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0084 | 1 | 141 | 0.0071 | 603 | c.77- others(620): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SEPTIN9_chr17_77314518_77505593 | 77356680 | T | TCCCCCTC others(596): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0018 | 1 | 148 | 0.0068 | 603 | c.22+ others(620): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431777 | A | ATAGGGTG others(596): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0076 | 1 | 337 | 0.0030 | 603 | c.101 others(622): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC45A1_chr1_8313114_8349165 | 8322292 | A | ATGGATGG others(596): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0163 | 1 | 327 | 0.0031 | 603 | c.-24 others(620): Show |
SLC45A1 | ENSG00000162426.16 | transcript | ENST00000471889.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC66A2_chr18_79897420_79956653 | 79952716 | G | GCGGGTGA others(596): Show |
upstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 283 | 0.0035 | 603 | c.-12 others(614): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 1064 | chr18 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79952716 | G | GCGGGTGA others(596): Show |
upstream_gene_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0330 | 1 | 283 | 0.0035 | 603 | c.-12 others(614): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 1064 | chr18 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79952716 | G | GCGGGTGA others(596): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0332 | 1 | 283 | 0.0035 | 603 | c.-12 others(614): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 1064 | chr18 | TogoVar | |||||||
SPATA13_chr13_24155720_24312069 | 24190091 | A | AATGATAT others(596): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0333 | 1 | 270 | 0.0037 | 603 | c.-11 others(624): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(596): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 80 | 0.0125 | 603 | c.*64 others(614): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(596): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0162 | 1 | 4 | 0.2500 | 603 | c.157 others(622): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(596): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0086 | 1 | 4 | 0.2500 | 603 | c.157 others(622): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(596): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0135 | 1 | 4 | 0.2500 | 603 | c.157 others(622): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(596): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0269 | 1 | 4 | 0.2500 | 603 | c.157 others(622): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(596): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0355 | 1 | 4 | 0.2500 | 603 | c.157 others(622): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(596): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0028 | 1 | 4 | 0.2500 | 603 | c.157 others(622): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | |||||||
SULF2_chr20_47652406_47790481 | 47670707 | G | GGGGGTGG others(596): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 4 | 0.2500 | 603 | c.157 others(622): Show |
SULF2 | ENSG00000196562.16 | transcript | ENST00000688720.1 | protein_coding | 11/20 | chr20 | TogoVar | |||||||
TECPR1_chr7_98209624_98257232 | 98242990 | C | CCACCCAC others(596): Show |
intron_variant | MODIFIER | NA18942.hp1 NA19066.hp1 |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0101 | a0002c0002t0004g0285 a0002c0002t0101g0245 |
2 | 342 | 0.0058 | 603 | c.657 others(618): Show |
TECPR1 | ENSG00000205356.10 | transcript | ENST00000447648.7 | protein_coding | 6/25 | chr7 | TogoVar | |||||||
TLL2_chr10_96359608_96518926 | 96415739 | G | GTCTCTCT others(596): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0158 | 1 | 158 | 0.0063 | 603 | c.924 others(620): Show |
TLL2 | ENSG00000095587.9 | transcript | ENST00000357947.4 | protein_coding | 7/20 | chr10 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507207 | C | CATACGTA others(596): Show |
intron_variant | MODIFIER | HG01433.hp1 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0180 |
2 | 299 | 0.0067 | 603 | c.-23 others(620): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507497 | A | ATATATAC others(596): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0255 | 1 | 381 | 0.0026 | 603 | c.-23 others(620): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(596): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0071 | 1 | 98 | 0.0102 | 603 | c.41- others(620): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TSNARE1_chr8_142207080_142408182 | 142261001 | T | TGGGGAGG others(596): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0062 |
2 | 179 | 0.0112 | 603 | c.144 others(624): Show |
TSNARE1 | ENSG00000171045.16 | transcript | ENST00000524325.6 | protein_coding | 12/13 | chr8 | TogoVar | |||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(596): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG01074.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 a0001c0002t0002g0056 a0001c0002t0002g0116 others(2): Show |
8 | 15 | 0.5333 | 603 | c.657 others(618): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238909157 | G | GTGTAGTG others(596): Show |
intron_variant | MODIFIER | HG02523.hp2 NA18952.hp1 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0157 a0001c0001t0001g0160 |
3 | 5 | 0.6000 | 603 | c.*36 others(618): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169438 | C | CCCTCCTC others(596): Show |
downstream_gene_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0003 | 1 | 109 | 0.0092 | 603 | c.*59 others(612): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 505 | chrX | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876166 | C | CCCCCCTT others(596): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0024 | 1 | 182 | 0.0055 | 603 | c.-10 others(620): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ZNF85_chr19_20918251_20955697 | 20919183 | A | ATATATAT others(596): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 212 | 0.0047 | 603 | c.-42 others(614): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4067 | chr19 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236714890 | T | TACCACTG others(597): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0270 | 1 | 241 | 0.0041 | 604 | c.127 others(621): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGAP39_chr8_144524179_144690846 | 144557367 | G | GCTGAACC others(597): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 6 | 0.1667 | 604 | c.513 others(621): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144557367 | G | GCTGAACC others(597): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 a0001c0001t0002g0235 |
2 | 7 | 0.2857 | 604 | c.513 others(621): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144557367 | G | GCTGAACC others(597): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(161): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(21): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(161): Show |
164 | 169 | 0.9704 | 604 | c.513 others(621): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144557367 | G | GCTGAACC others(597): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01981.hp1 HG02738.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0107 a0001c0002t0001g0116 a0001c0002t0001g0145 others(1): Show |
4 | 9 | 0.4444 | 604 | c.513 others(621): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144557367 | G | GCTGAACC others(597): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0137 a0001c0001t0002g0169 a0001c0001t0020g0075 |
3 | 8 | 0.3750 | 604 | c.513 others(621): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144557367 | G | GCTGAACC others(597): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02809.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 a0001c0001t0003g0063 a0001c0001t0003g0066 others(2): Show |
5 | 10 | 0.5000 | 604 | c.513 others(621): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144557367 | G | GCTGAACC others(597): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02735.hp1 NA18999.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0043 a0001c0001t0001g0202 |
3 | 8 | 0.3750 | 604 | c.513 others(621): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144557367 | G | GCTGAACC others(597): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 | 1 | 6 | 0.1667 | 604 | c.513 others(621): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 3/11 | chr8 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687797 | C | CGTGACCA others(597): Show |
upstream_gene_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 209 | 0.0048 | 604 | c.-21 others(615): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1952 | chr8 | TogoVar | |||||||
ARHGEF3_chr3_56722420_56806949 | 56731592 | C | CCGGGTTT others(597): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00597.hp1 others(61): Show |
a0001 | a0001c0002a0001c0006a0001c0009 | a0001c0002t0002a0001c0002t0006a0001c0002t0010others(3): Show | a0001c0002t0002g0007 a0001c0002t0002g0021 a0001c0002t0002g0022 others(59): Show |
64 | 313 | 0.2045 | 604 | c.122 others(621): Show |
ARHGEF3 | ENSG00000163947.12 | transcript | ENST00000296315.8 | protein_coding | 9/9 | chr3 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116840551 | G | GGGGGCTG others(597): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02109.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0099 a0001c0002t0002g0046 a0001c0003t0001g0038 others(4): Show |
7 | 19 | 0.3684 | 604 | c.204 others(625): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116840551 | G | GGGGGCTG others(597): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18906.hp1 |
a0001 | a0001c0003 | a0001c0003t0006a0001c0003t0014 | a0001c0003t0006g0017 a0001c0003t0014g0083 |
2 | 14 | 0.1429 | 604 | c.204 others(625): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
ASTN2_chr9_116418112_117420057 | 116840565 | C | CACCTCCC others(597): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0016 | 1 | 100 | 0.0100 | 604 | c.204 others(625): Show |
ASTN2 | ENSG00000148219.18 | transcript | ENST00000313400.9 | protein_coding | 11/22 | chr9 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835512 | A | AGGCCCCG others(597): Show |
downstream_gene_variant | MODIFIER | HG01978.hp1 | a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0002 | 1 | 375 | 0.0027 | 604 | c.*36 others(615): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3495 | chr19 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235393 | T | TGGGGAAA others(597): Show |
upstream_gene_variant | MODIFIER | NA18992.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0003 | 1 | 8 | 0.1250 | 604 | c.-70 others(613): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 511 | chr20 | TogoVar | |||||||
BIRC7_chr20_63230905_63245495 | 63235400 | A | AAGTGAGG others(597): Show |
upstream_gene_variant | MODIFIER | NA19091.hp1 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0018 | 1 | 293 | 0.0034 | 604 | c.-69 others(613): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 504 | chr20 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 410971 | C | CCTGCTGG others(597): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0094 | a0001c0001t0094g0077 | 1 | 283 | 0.0035 | 604 | c.-20 others(615): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1825 | chr19 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1186101 | A | ACGGCGTA others(597): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG03540.hp2 others(1): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0058a0003c0028others(1): Show | a0001c0001t0001a0002c0058t0022a0003c0028t0004others(1): Show | a0001c0001t0001g0322 a0002c0058t0022g0026 a0003c0028t0004g0325 others(1): Show |
4 | 256 | 0.0156 | 604 | c.300 others(621): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG7_chr19_53904278_53948950 | 53922857 | T | TCTGGTAT others(597): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0233 | 1 | 354 | 0.0028 | 604 | c.424 others(621): Show |
CACNG7 | ENSG00000105605.8 | transcript | ENST00000391767.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CADPS2_chr7_122313411_122891460 | 122484490 | T | TAAAAATT others(597): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 117 | 0.0085 | 604 | c.185 others(623): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 11/29 | chr7 | TogoVar | |||||||
CADPS2_chr7_122313411_122891460 | 122484490 | T | TAAAAATT others(597): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0118 | 1 | 117 | 0.0085 | 604 | c.185 others(623): Show |
CADPS2 | ENSG00000081803.17 | transcript | ENST00000449022.7 | protein_coding | 11/29 | chr7 | TogoVar |