| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SCN5A_chr3_38543062_38654687 | 38555087 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0055 | a0001c0055t0020 | a0001c0055t0020g0034 | 1 | 340 | 0.0029 | -25 | c.454 others(42): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | ||||||
| SCN8A_chr12_51586233_51817864 | 51721097 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01517.hp1 HG02257.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0003g0038a0001c0001t0003g0039a0001c0001t0003g0040others(4): Show | 7 | 202 | 0.0347 | -25 | c.163 others(42): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SCN9A_chr2_166190185_166380944 | 166199975 | GTTTTTTT others(18): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG01167.hp1 others(22): Show |
a0003a0005a0015others(1): Show | a0003c0013a0003c0014a0003c0028others(10): Show | a0003c0013t0003a0003c0014t0003a0003c0028t0003others(11): Show | a0003c0013t0003g0159a0003c0013t0003g0160a0003c0013t0003g0161others(22): Show | 25 | 296 | 0.0845 | -25 | c.477 others(42): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 26/26 | chr2 | TogoVar | ||||||
| SCN9A_chr2_166190185_166380944 | 166340590 | CTTTCTTT others(18): Show |
C | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0256 | 1 | 296 | 0.0034 | -25 | c.-50 others(44): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | ||||||
| SCN9A_chr2_166190185_166380944 | 166340591 | TTTCTTTC others(18): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0203 | 1 | 296 | 0.0034 | -25 | c.-50 others(44): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | ||||||
| SCNN1B_chr16_23297302_23386294 | 23305524 | AATATATA others(18): Show |
A | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0249 | 1 | 306 | 0.0033 | -25 | c.-9+ others(40): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| SCP2_chr1_52922276_53056698 | 52940833 | CTCTGCCT others(18): Show |
C | intron_variant | MODIFIER | HG03130.hp1 HG03139.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0006a0001c0004t0008a0001c0004t0011 | a0001c0002t0006g0045a0001c0002t0006g0046a0001c0004t0008g0044others(2): Show | 5 | 280 | 0.0179 | -25 | c.70- others(38): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SCRN3_chr2_174390730_174434575 | 174398072 | AAGCCCTG others(18): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00741.hp1 others(13): Show |
a0000a0001 | a0000c0004a0001c0001 | a0000c0004t0002a0001c0001t0001 | a0000c0004t0002g0011a0000c0004t0002g0025a0000c0004t0002g0071others(9): Show | 16 | 364 | 0.0440 | -25 | c.-9- others(38): Show |
SCRN3 | ENSG00000144306.15 | transcript | ENST00000272732.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SCTR_chr2_119434843_119529483 | 119505227 | ACACATAT others(18): Show |
A | intron_variant | MODIFIER | HG00621.hp2 NA18984.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0191a0001c0001t0002g0201 | 2 | 290 | 0.0069 | -25 | c.73- others(42): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43280418 | TCCTGTCC others(18): Show |
T | intron_variant | MODIFIER | HG03195.hp1 HG03453.hp1 HG03486.hp1 others(1): Show |
a0001a0002a0003 | a0001c0008a0001c0010a0002c0009others(1): Show | a0001c0008t0009a0001c0010t0091a0002c0009t0025others(1): Show | a0001c0008t0009g0248a0001c0010t0091g0275a0002c0009t0025g0070others(1): Show | 4 | 280 | 0.0143 | -25 | c.484 others(44): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43281431 | TCCCTTGG others(18): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG02965.hp1 |
a0001a0005 | a0001c0020a0005c0031 | a0001c0020t0005a0005c0031t0017 | a0001c0020t0005g0026a0005c0031t0017g0009 | 2 | 280 | 0.0071 | -25 | c.484 others(42): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | ||||||
| SCUBE3_chr6_35208956_35258079 | 35217228 | GGGGGGGG others(18): Show |
G | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0179 | 1 | 290 | 0.0035 | -25 | c.85+ others(40): Show |
SCUBE3 | ENSG00000146197.9 | transcript | ENST00000274938.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SCYL1_chr11_65520083_65543704 | 65524847 | GCCCCGCC others(18): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 2 | 278 | 0.0072 | -25 | c.-30 others(34): Show |
SCYL1 | ENSG00000142186.18 | transcript | ENST00000270176.10 | protein_coding | 235 | chr11 | TogoVar | ||||||
| SCYL2_chr12_100262177_100346715 | 100295673 | TGAGAGGG others(18): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 220 | 0.0046 | -25 | c.336 others(42): Show |
SCYL2 | ENSG00000136021.19 | transcript | ENST00000360820.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| SDF4_chr1_1211931_1237001 | 1220531 | AGAGGTCG others(18): Show |
A | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 400 | 0.0025 | -25 | c.557 others(42): Show |
SDF4 | ENSG00000078808.20 | transcript | ENST00000360001.12 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
| SDHC_chr1_161309381_161368206 | 161348882 | AAAAAGTC others(18): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(87): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0004a0001c0001t0002g0013a0001c0001t0002g0014others(82): Show | 90 | 330 | 0.2727 | -25 | c.242 others(42): Show |
SDHC | ENSG00000143252.16 | transcript | ENST00000367975.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SDK1_chr7_3296252_4274000 | 3705425 | GATTTTAT others(18): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02622.hp1 HG02976.hp1 others(4): Show |
a0001a0004a0034 | a0001c0048a0001c0049a0001c0071others(4): Show | a0001c0048t0001a0001c0049t0036a0001c0071t0057others(4): Show | a0001c0048t0001g0029a0001c0049t0036g0109a0001c0071t0057g0031others(4): Show | 7 | 116 | 0.0603 | -25 | c.713 others(44): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 4/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SDK1_chr7_3296252_4274000 | 3842422 | ATGGGTAC others(18): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02723.hp2 HG02896.hp1 others(2): Show |
a0001a0002 | a0001c0037a0001c0059a0001c0060others(2): Show | a0001c0037t0002a0001c0059t0027a0001c0060t0041others(2): Show | a0001c0037t0002g0077a0001c0059t0027g0090a0001c0060t0041g0080others(2): Show | 5 | 116 | 0.0431 | -25 | c.847 others(44): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SDK1_chr7_3296252_4274000 | 4144444 | GGCGGTGA others(18): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(47): Show |
a0001a0002a0004others(12): Show | a0001c0002a0001c0004a0001c0007others(39): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0040others(45): Show | a0001c0002t0002g0095a0001c0002t0004g0104a0001c0002t0040g0084others(47): Show | 50 | 116 | 0.4310 | -25 | c.422 others(44): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 28/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SEC11A_chr15_84664544_84721139 | 84700593 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02145.hp1 HG02145.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0135others(15): Show | 18 | 320 | 0.0563 | -25 | c.52- others(40): Show |
SEC11A | ENSG00000140612.14 | transcript | ENST00000268220.12 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
| SEC13_chr3_10295931_10326112 | 10323557 | AGGTTTGT others(18): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp2 HG02559.hp1 HG02622.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0025a0001c0001t0001g0064others(3): Show | 11 | 380 | 0.0290 | -25 | c.-25 others(36): Show |
SEC13 | ENSG00000157020.18 | transcript | ENST00000350697.8 | protein_coding | 2446 | chr3 | TogoVar | ||||||
| SEC14L1_chr17_77135969_77222101 | 77180041 | TTGTTTTG others(18): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG02145.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0006a0001c0001t0032a0001c0005t0015 | a0001c0001t0006g0224a0001c0001t0006g0225a0001c0001t0032g0009others(3): Show | 8 | 430 | 0.0186 | -25 | c.64- others(42): Show |
SEC14L1 | ENSG00000129657.16 | transcript | ENST00000436233.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| SEC14L3_chr22_30454229_30477017 | 30454473 | CTATATAA others(18): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02717.hp1 |
a0007 | a0007c0009 | a0007c0009t0007 | a0007c0009t0007g0128a0007c0009t0007g0146 | 2 | 454 | 0.0044 | -25 | c.*55 others(36): Show |
SEC14L3 | ENSG00000100012.12 | transcript | ENST00000215812.9 | protein_coding | 4755 | chr22 | TogoVar | ||||||
| SEC14L5_chr16_4953330_5024157 | 4962141 | GGGCAACA others(18): Show |
G | intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 376 | 0.0027 | -25 | c.63+ others(40): Show |
SEC14L5 | ENSG00000103184.12 | transcript | ENST00000251170.12 | protein_coding | 2/15 | chr16 | TogoVar | ||||||
| SEC23A_chr14_39026919_39108235 | 39094420 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 366 | 0.0027 | -25 | c.222 others(42): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | ||||||
| SEC23A_chr14_39026919_39108235 | 39094422 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0359a0001c0001t0006g0360 | 2 | 366 | 0.0055 | -25 | c.222 others(42): Show |
SEC23A | ENSG00000100934.15 | transcript | ENST00000307712.11 | protein_coding | 2/19 | chr14 | TogoVar | ||||||
| SEC31A_chr4_82813509_82896153 | 82837174 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 328 | 0.0031 | -25 | c.296 others(44): Show |
SEC31A | ENSG00000138674.17 | transcript | ENST00000395310.7 | protein_coding | 22/26 | chr4 | TogoVar | ||||||
| SEC63_chr6_107862756_107963208 | 107910515 | TATATATA others(18): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01496.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0040a0001c0001t0047 | a0001c0001t0001g0106a0001c0001t0001g0132a0001c0001t0001g0135others(7): Show | 10 | 332 | 0.0301 | -25 | c.624 others(40): Show |
SEC63 | ENSG00000025796.14 | transcript | ENST00000369002.9 | protein_coding | 7/20 | chr6 | TogoVar | ||||||
| SECISBP2_chr9_89313500_89364663 | 89340499 | TTGTCGTT others(18): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0240 | 1 | 380 | 0.0026 | -25 | c.130 others(42): Show |
SECISBP2 | ENSG00000187742.15 | transcript | ENST00000375807.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| SECTM1_chr17_82316024_82338766 | 82327933 | AGCCCGTC others(18): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01109.hp1 others(15): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0009a0002c0003t0013others(5): Show | a0002c0003t0003g0020a0002c0003t0003g0021a0002c0003t0003g0115others(11): Show | 18 | 374 | 0.0481 | -25 | c.-52 others(40): Show |
SECTM1 | ENSG00000141574.8 | transcript | ENST00000269389.8 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
| SELE_chr1_169717640_169739079 | 169737386 | TTATATAT others(18): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02818.hp2 HG02976.hp2 others(3): Show |
a0005a0009 | a0005c0006a0009c0014 | a0005c0006t0002a0009c0014t0002 | a0005c0006t0002g0013a0009c0014t0002g0051 | 6 | 438 | 0.0137 | -25 | c.-34 others(36): Show |
SELE | ENSG00000007908.16 | transcript | ENST00000333360.12 | protein_coding | 3308 | chr1 | TogoVar | ||||||
| SEMA3A_chr7_83950777_84199789 | 83965648 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0087 | 1 | 276 | 0.0036 | -25 | c.171 others(44): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 15/16 | chr7 | TogoVar | ||||||
| SEMA3E_chr7_83358238_83654139 | 83533554 | GATAAAAT others(18): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG02886.hp1 HG03225.hp1 others(3): Show |
a0001a0003 | a0001c0001a0001c0010a0003c0009 | a0001c0001t0051a0001c0001t0052a0001c0010t0058others(3): Show | a0001c0001t0051g0046a0001c0001t0052g0050a0001c0010t0058g0060others(3): Show | 6 | 226 | 0.0266 | -25 | c.116 others(44): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | ||||||
| SEMA3E_chr7_83358238_83654139 | 83533576 | TAAAATAA others(18): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(73): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0088a0001c0001t0001g0135a0001c0001t0001g0138others(73): Show | 76 | 226 | 0.3363 | -25 | c.116 others(44): Show |
SEMA3E | ENSG00000170381.15 | transcript | ENST00000643230.2 | protein_coding | 1/16 | chr7 | TogoVar | ||||||
| SEMA4B_chr15_90196330_90234660 | 90232806 | TGAGGCAG others(18): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(271): Show |
a0001a0002a0005others(6): Show | a0001c0003a0001c0005a0001c0007others(24): Show | a0001c0003t0001a0001c0005t0003a0001c0005t0011others(37): Show | a0001c0003t0001g0002a0001c0003t0001g0004a0001c0003t0001g0014others(184): Show | 274 | 420 | 0.6524 | -25 | c.*41 others(36): Show |
SEMA4B | ENSG00000185033.15 | transcript | ENST00000411539.7 | protein_coding | 3147 | chr15 | TogoVar | ||||||
| SEMA4C_chr2_96854718_96875080 | 96869768 | CCAGCCCC others(18): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 350 | 0.0029 | -25 | c.-38 others(39): Show |
SEMA4C | ENSG00000168758.11 | transcript | ENST00000305476.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
| SEMA5A_chr5_9030033_9551075 | 9131634 | AAAAAAAA others(18): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01257.hp1 HG02602.hp1 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0023 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(5): Show | a0001c0001t0001g0019a0001c0001t0003g0029a0001c0001t0014g0077others(6): Show | 9 | 134 | 0.0672 | -25 | c.159 others(44): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 13/22 | chr5 | TogoVar | ||||||
| SEMA6A_chr5_116438555_116579823 | 116544482 | GAGATGGG others(18): Show |
G | intron_variant | MODIFIER | HG02055.hp1 NA19030.hp2 |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0006a0008c0009t0003 | a0001c0001t0006g0006a0008c0009t0003g0007 | 2 | 304 | 0.0066 | -25 | c.-39 others(44): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 1/18 | chr5 | TogoVar | ||||||
| SEPTIN7_chr7_35796057_35912110 | 35838323 | TCCCTCCC others(18): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0037 | a0001c0001t0004g0009a0001c0001t0004g0173a0001c0001t0004g0176others(5): Show | 8 | 346 | 0.0231 | -25 | c.169 others(42): Show |
SEPTIN7 | ENSG00000122545.22 | transcript | ENST00000350320.11 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| SEPTIN8_chr5_132745819_132782239 | 132769833 | GGGAATGG others(18): Show |
G | intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 326 | 0.0031 | -25 | c.31- others(40): Show |
SEPTIN8 | ENSG00000164402.14 | transcript | ENST00000378719.7 | protein_coding | 1/9 | chr5 | TogoVar | ||||||
| SERPINA11_chr14_94437464_94457800 | 94449390 | CTCTTTCT others(18): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00735.hp1 others(8): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0005t0001 | a0002c0002t0001g0040a0002c0002t0001g0099a0002c0002t0001g0127others(6): Show | 11 | 452 | 0.0243 | -25 | c.-3- others(38): Show |
SERPINA11 | ENSG00000186910.4 | transcript | ENST00000334708.4 | protein_coding | 1/4 | chr14 | TogoVar | ||||||
| SERPINE2_chr2_223970045_224044286 | 224044121 | CTCTTTCT others(18): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp2 HG03486.hp2 HG03669.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0005 | a0001c0001t0001g0078a0001c0002t0001g0196a0001c0002t0001g0197others(1): Show | 4 | 374 | 0.0107 | -25 | c.-50 others(36): Show |
SERPINE2 | ENSG00000135919.14 | transcript | ENST00000409304.6 | protein_coding | 4836 | chr2 | TogoVar | ||||||
| SETBP1_chr18_44675888_45073510 | 44703348 | GTTTTTTT others(18): Show |
G | intron_variant | MODIFIER | HG02080.hp1 | a0010 | a0010c0017 | a0010c0017t0001 | a0010c0017t0001g0041 | 1 | 140 | 0.0071 | -25 | c.486 others(42): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| SETBP1_chr18_44675888_45073510 | 44986918 | AGTATAGT others(18): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG03486.hp1 |
a0001a0008 | a0001c0001a0008c0011 | a0001c0001t0004a0008c0011t0004 | a0001c0001t0004g0006a0008c0011t0004g0124 | 2 | 140 | 0.0143 | -25 | c.400 others(46): Show |
SETBP1 | ENSG00000152217.20 | transcript | ENST00000649279.2 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| SETD2_chr3_47011436_47169113 | 47044344 | CAAAAAAA others(18): Show |
C | intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0049 | 1 | 308 | 0.0033 | -25 | c.709 others(44): Show |
SETD2 | ENSG00000181555.22 | transcript | ENST00000409792.4 | protein_coding | 16/20 | chr3 | TogoVar | ||||||
| SETDB1_chr1_150921363_150969737 | 150933755 | CTTTTTCT others(18): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0018 | 1 | 352 | 0.0028 | -25 | c.412 others(42): Show |
SETDB1 | ENSG00000143379.13 | transcript | ENST00000692827.1 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SF3B3_chr16_70518816_70582668 | 70581414 | TTGGTATT others(18): Show |
T | downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 342 | 0.0029 | -25 | c.*96 others(36): Show |
SF3B3 | ENSG00000189091.13 | transcript | ENST00000302516.10 | protein_coding | 3747 | chr16 | TogoVar | ||||||
| SFMBT2_chr10_7153624_7416034 | 7393009 | ATATATAT others(18): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01261.hp2 HG02258.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0002g0047a0001c0001t0002g0122a0001c0001t0004g0121others(7): Show | 10 | 144 | 0.0694 | -25 | c.-51 others(44): Show |
SFMBT2 | ENSG00000198879.13 | transcript | ENST00000397167.6 | protein_coding | 1/20 | chr10 | TogoVar | ||||||
| SFRP1_chr8_41256962_41314473 | 41290875 | CTCTTCCT others(18): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02683.hp2 NA18968.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0009a0002c0002t0006others(1): Show | a0001c0001t0004g0217a0001c0001t0009g0126a0002c0002t0006g0278others(1): Show | 4 | 384 | 0.0104 | -25 | c.622 others(44): Show |
SFRP1 | ENSG00000104332.12 | transcript | ENST00000220772.8 | protein_coding | 2/2 | chr8 | TogoVar | ||||||
| SFT2D1_chr6_166314728_166347545 | 166345648 | CTGGCTCA others(18): Show |
C | upstream_gene_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 | 1 | 388 | 0.0026 | -25 | c.-31 others(36): Show |
SFT2D1 | ENSG00000198818.10 | transcript | ENST00000361731.4 | protein_coding | 3104 | chr6 | TogoVar |