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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SDHA_chr5_213320_262082 | 260206 | T | TCAGAGCA others(25): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp2 others(79): Show |
a0001a0004a0006others(1): Show | a0001c0002a0001c0007a0004c0004others(2): Show | a0001c0002t0001a0001c0007t0001a0004c0004t0001others(2): Show | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0009 others(57): Show |
82 | 181 | 0.4530 | 32 | c.*37 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3125 | chr5 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 260236 | C | CGGCAGAG others(25): Show |
downstream_gene_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0014 | 1 | 264 | 0.0038 | 32 | c.*38 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3155 | chr5 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 260809 | T | TCCCGTCA others(25): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG02056.hp2 HG02071.hp1 others(5): Show |
a0001a0007 | a0001c0002a0001c0007a0007c0013 | a0001c0002t0001a0001c0007t0001a0007c0013t0001 | a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0174 others(5): Show |
8 | 260 | 0.0308 | 32 | c.*43 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 3728 | chr5 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 261102 | T | TCAGAGCA others(25): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 250 | 0.0040 | 32 | c.*46 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4021 | chr5 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 261230 | T | TCAGAGCA others(25): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0125 | 1 | 171 | 0.0058 | 32 | c.*48 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4149 | chr5 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 261293 | C | CGCAGAGC others(25): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 NA18968.hp2 NA18986.hp2 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0025 a0004c0004t0001g0111 a0004c0004t0001g0144 |
4 | 163 | 0.0245 | 32 | c.*48 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4212 | chr5 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 261422 | T | TCAGAGCA others(25): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 204 | 0.0049 | 32 | c.*50 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4341 | chr5 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 261521 | C | CAGCATTA others(25): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 168 | 0.0060 | 32 | c.*51 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4440 | chr5 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 261585 | G | GAGCATTA others(25): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0112 | 1 | 247 | 0.0040 | 32 | c.*51 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4504 | chr5 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 261681 | C | CAGCATTA others(25): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 240 | 0.0042 | 32 | c.*52 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4600 | chr5 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 261742 | G | GCAGAGCA others(25): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 NA18992.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0166 a0001c0002t0001g0167 |
2 | 248 | 0.0081 | 32 | c.*53 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4661 | chr5 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 261874 | G | GAGCATTA others(25): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 NA18968.hp2 NA18973.hp1 others(2): Show |
a0001a0004 | a0001c0002a0004c0004 | a0001c0002t0001a0004c0004t0001 | a0001c0002t0001g0129 a0001c0002t0001g0130 a0004c0004t0001g0025 others(1): Show |
5 | 238 | 0.0210 | 32 | c.*54 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4793 | chr5 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 261906 | C | CAGCATTA others(25): Show |
downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 247 | 0.0040 | 32 | c.*54 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4825 | chr5 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 261938 | C | CAGCATTA others(25): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 230 | 0.0043 | 32 | c.*55 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4857 | chr5 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 262031 | T | ACAGAGCA others(25): Show |
downstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0167 | 1 | 196 | 0.0051 | 32 | c.*56 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4949 | chr5 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 262062 | G | GGCAGAGC others(25): Show |
downstream_gene_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 201 | 0.0050 | 32 | c.*56 others(43): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 4981 | chr5 | TogoVar | |||||||
SDHB_chr1_17013722_17059032 | 17036673 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01243.hp2 HG01261.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0091 a0001c0001t0001g0100 a0001c0001t0001g0168 others(7): Show |
10 | 355 | 0.0282 | 32 | c.201 others(49): Show |
SDHB | ENSG00000117118.11 | transcript | ENST00000375499.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
SDHC_chr1_161309381_161368206 | 161339662 | G | GTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18951.hp1 NA18980.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0081 others(2): Show |
5 | 60 | 0.0833 | 32 | c.180 others(47): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3435321 | C | CTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0029 | a0029c0084 | a0029c0084t0045 | a0029c0084t0045g0011 | 1 | 26 | 0.0385 | 32 | c.298 others(53): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 1/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4074856 | T | TACTTTCT others(25): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0090 | a0002c0090t0010 | a0002c0090t0010g0047 | 1 | 73 | 0.0137 | 32 | c.301 others(51): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 20/44 | chr7 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 4139539 | A | ATATGTGT others(25): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG00735.hp2 others(20): Show |
a0001a0002a0003others(10): Show | a0001c0046a0001c0059a0001c0064others(15): Show | a0001c0046t0022a0001c0059t0027a0001c0064t0006others(20): Show | a0001c0046t0022g0091 a0001c0059t0027g0090 a0001c0064t0006g0111 others(20): Show |
23 | 101 | 0.2277 | 32 | c.422 others(51): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 28/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4139539 | A | ATATGTGT others(25): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02559.hp2 HG02622.hp1 others(1): Show |
a0001a0014 | a0001c0027a0001c0067a0001c0087others(1): Show | a0001c0027t0020a0001c0067t0068a0001c0087t0009others(1): Show | a0001c0027t0020g0087 a0001c0067t0068g0001 a0001c0087t0009g0054 others(1): Show |
4 | 82 | 0.0488 | 32 | c.422 others(51): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 28/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4157479 | A | AAGGAAGG others(25): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG01123.hp2 others(2): Show |
a0003a0006a0007 | a0003c0001a0006c0016a0006c0077others(1): Show | a0003c0001t0059a0006c0016t0001a0006c0016t0003others(2): Show | a0003c0001t0059g0026 a0006c0016t0001g0114 a0006c0016t0003g0068 others(2): Show |
5 | 63 | 0.0794 | 32 | c.462 others(49): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 30/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73355159 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02129.hp1 NA18961.hp1 |
a0001a0009 | a0001c0004a0001c0015a0009c0021 | a0001c0004t0010a0001c0015t0012a0009c0021t0019 | a0001c0004t0010g0088 a0001c0015t0012g0074 a0009c0021t0019g0046 |
3 | 174 | 0.0172 | 32 | c.559 others(51): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0013 | a0001c0013t0013 | a0001c0013t0013g0193 | 1 | 52 | 0.0192 | 32 | c.559 others(51): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0029 | a0002c0029t0003 | a0002c0029t0003g0079 | 1 | 52 | 0.0192 | 32 | c.559 others(51): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02886.hp2 |
a0001 | a0001c0005a0001c0008 | a0001c0005t0050a0001c0008t0085 | a0001c0005t0050g0032 a0001c0008t0085g0143 |
2 | 53 | 0.0377 | 32 | c.559 others(51): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0005 | a0005c0012 | a0005c0012t0039 | a0005c0012t0039g0154 | 1 | 52 | 0.0192 | 32 | c.559 others(51): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73509902 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0165 | 1 | 50 | 0.0200 | 32 | c.65- others(47): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 1/44 | chr17 | TogoVar | |||||||
SEC14L3_chr22_30454229_30477017 | 30454720 | C | CTATAATA others(25): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02809.hp1 others(7): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0008 a0004c0004t0001g0143 |
10 | 451 | 0.0222 | 32 | c.*53 others(43): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 4508 | chr22 | TogoVar | |||||||
SEC14L3_chr22_30454229_30477017 | 30454727 | C | CTATAATA others(25): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG02717.hp1 |
a0008 | a0008c0009 | a0008c0009t0007 | a0008c0009t0007g0127 a0008c0009t0007g0145 |
2 | 211 | 0.0095 | 32 | c.*52 others(43): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 4501 | chr22 | TogoVar | |||||||
SEC14L3_chr22_30454229_30477017 | 30454865 | A | AATATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02809.hp1 HG02970.hp2 others(4): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0008 | 7 | 332 | 0.0211 | 32 | c.*51 others(43): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 4363 | chr22 | TogoVar | |||||||
SEC22A_chr3_123196943_123279136 | 123220867 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 242 | 0.0041 | 32 | c.183 others(49): Show |
SEC22A | ENSG00000121542.12 | transcript | ENST00000492595.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SEC23B_chr20_18502940_18566415 | 18550064 | C | CTATGTAT others(25): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(82): Show |
a0001a0012a0013 | a0001c0001a0001c0013a0012c0018others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 others(69): Show |
85 | 408 | 0.2083 | 32 | c.190 others(50): Show |
SEC23B | ENSG00000101310.17 | transcript | ENST00000650089.1 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109482979 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 12 | 0.0833 | 32 | c.116 others(51): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC24B_chr4_109428815_109545896 | 109483003 | C | CACACACA others(25): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0105 | 1 | 113 | 0.0088 | 32 | c.116 others(51): Show |
SEC24B | ENSG00000138802.11 | transcript | ENST00000265175.5 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SEC31A_chr4_82813509_82896153 | 82841442 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02735.hp2 HG02818.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0138 a0001c0001t0001g0155 others(5): Show |
8 | 43 | 0.1860 | 32 | c.296 others(49): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 22/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82841465 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0230 | 1 | 313 | 0.0032 | 32 | c.296 others(49): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 22/26 | chr4 | TogoVar | |||||||
SEC31A_chr4_82813509_82896153 | 82841467 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 302 | 0.0033 | 32 | c.296 others(49): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 22/26 | chr4 | TogoVar | |||||||
SEC63_chr6_107862756_107963208 | 107960126 | A | ACTCTCTT others(25): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0112 | 1 | 330 | 0.0030 | 32 | c.-21 others(43): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 1919 | chr6 | TogoVar | |||||||
SECISBP2L_chr15_48983638_49051446 | 49010124 | G | GACACACA others(25): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0097 | 1 | 140 | 0.0071 | 32 | c.186 others(49): Show |
SECISBP2L | ENSG00000138593.9 | transcript | ENST00000559471.6 | protein_coding | 13/17 | chr15 | TogoVar | |||||||
SECTM1_chr17_82316024_82338766 | 82318430 | T | TGTGTGCA others(25): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0003 | a0002c0003t0018 | a0002c0003t0018g0119 | 1 | 268 | 0.0037 | 32 | c.*37 others(43): Show |
SECTM1 | ENSG00000141574.8 | transcript | ENST00000269389.8 | protein_coding | 2593 | chr17 | TogoVar | |||||||
SECTM1_chr17_82316024_82338766 | 82318915 | A | ATGTGTGT others(25): Show |
downstream_gene_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 372 | 0.0027 | 32 | c.*32 others(43): Show |
SECTM1 | ENSG00000141574.8 | transcript | ENST00000269389.8 | protein_coding | 2108 | chr17 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934433 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 243 | 0.0041 | 32 | c.115 others(49): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934446 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18957.hp1 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0067 |
3 | 156 | 0.0192 | 32 | c.115 others(49): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13939035 | G | GTTTTTTT others(25): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 248 | 0.0040 | 32 | c.115 others(49): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13939040 | G | GGTTTTTT others(25): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18990.hp2 NA19009.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 a0001c0001t0002g0043 a0001c0001t0002g0049 others(1): Show |
4 | 14 | 0.2857 | 32 | c.115 others(49): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25746513 | T | TATATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG03209.hp2 HG03471.hp1 others(2): Show |
a0001a0002a0007 | a0001c0001a0001c0006a0001c0008others(2): Show | a0001c0001t0001a0001c0006t0007a0001c0008t0007others(2): Show | a0001c0001t0001g0078 a0001c0006t0007g0125 a0001c0008t0007g0161 others(2): Show |
5 | 310 | 0.0161 | 32 | c.*19 others(43): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 919 | chr4 | TogoVar | |||||||
SEL1L3_chr4_25742433_25867988 | 25746515 | T | TATATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0187 | 1 | 243 | 0.0041 | 32 | c.*19 others(43): Show |
SEL1L3 | ENSG00000091490.11 | transcript | ENST00000399878.8 | protein_coding | 917 | chr4 | TogoVar | |||||||
SELENOK_chr3_53879417_53896859 | 53894215 | A | ATATAGTT others(25): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 331 | 0.0030 | 32 | c.-24 others(43): Show |
SELENOK | ENSG00000113811.12 | transcript | ENST00000495461.6 | protein_coding | 2357 | chr3 | TogoVar |