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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCLT1_chr4_128878993_129098539 | 128975040 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG03139.hp1 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0269 |
2 | 288 | 0.0069 | 26 | c.687 others(43): Show |
SCLT1 | ENSG00000151466.12 | transcript | ENST00000281142.10 | protein_coding | 9/20 | chr4 | TogoVar | |||||||
SCMH1_chr1_41022202_41247306 | 41087937 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | NA19009.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 a0001c0001t0001g0226 |
2 | 304 | 0.0066 | 26 | c.746 others(45): Show |
SCMH1 | ENSG00000010803.17 | transcript | ENST00000695335.1 | protein_coding | 8/15 | chr1 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0047 | 1 | 250 | 0.0040 | 26 | c.-59 others(43): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0084 | 1 | 250 | 0.0040 | 26 | c.-59 others(43): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0006 | a0002c0006t0009 | a0002c0006t0009g0032 | 1 | 250 | 0.0040 | 26 | c.-59 others(43): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107778222 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0008 | 1 | 250 | 0.0040 | 26 | c.-59 others(43): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38737832 | C | CTTTCTTT others(19): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02258.hp2 HG02818.hp1 others(6): Show |
a0004a0005 | a0004c0006a0005c0009a0005c0011others(1): Show | a0004c0006t0001a0005c0009t0002a0005c0009t0003others(2): Show | a0004c0006t0001g0070 a0004c0006t0001g0168 a0004c0006t0001g0212 others(6): Show |
9 | 372 | 0.0242 | 26 | c.228 others(45): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 15/27 | chr3 | TogoVar | |||||||
SCN10A_chr3_38691807_38821217 | 38746063 | G | GTGTATAT others(19): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01175.hp1 HG01516.hp1 others(4): Show |
a0002 | a0002c0001a0002c0015 | a0002c0001t0001a0002c0015t0001 | a0002c0001t0001g0179 a0002c0001t0001g0199 a0002c0001t0001g0208 others(4): Show |
7 | 372 | 0.0188 | 26 | c.186 others(45): Show |
SCN10A | ENSG00000185313.9 | transcript | ENST00000449082.3 | protein_coding | 13/27 | chr3 | TogoVar | |||||||
SCN11A_chr3_38840764_39056944 | 38929131 | G | GCGCGCGC others(19): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0195 | 1 | 314 | 0.0032 | 26 | c.489 others(43): Show |
SCN11A | ENSG00000168356.13 | transcript | ENST00000302328.9 | protein_coding | 7/29 | chr3 | TogoVar | |||||||
SCN1A_chr2_165980813_166133020 | 166050613 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02155.hp2 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0017 | a0001c0001t0001g0049 a0001c0001t0012g0003 a0001c0001t0017g0056 |
3 | 356 | 0.0084 | 26 | c.964 others(43): Show |
SCN1A | ENSG00000144285.23 | transcript | ENST00000674923.1 | protein_coding | 9/28 | chr2 | TogoVar | |||||||
SCN2A_chr2_165234414_165397304 | 165291575 | T | TTCTCTCT others(19): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 358 | 0.0028 | 26 | c.-51 others(43): Show |
SCN2A | ENSG00000136531.19 | transcript | ENST00000375437.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCN2B_chr11_118157806_118181639 | 118162086 | C | CAGAGAGA others(19): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0030 | 1 | 450 | 0.0022 | 26 | c.*48 others(37): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 719 | chr11 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123625973 | A | AGAGAGAG others(19): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 NA18950.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0128 |
2 | 450 | 0.0044 | 26 | c.*78 others(37): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3214 | chr11 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555159 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03490.hp2 |
a0001a0003 | a0001c0001a0003c0027 | a0001c0001t0004a0003c0027t0004 | a0001c0001t0004g0292 a0003c0027t0004g0053 |
2 | 340 | 0.0059 | 26 | c.454 others(43): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38585662 | G | GGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(77): Show |
a0001a0002a0012others(3): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0223 others(76): Show |
80 | 340 | 0.2353 | 26 | c.278 others(41): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166413981 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01109.hp2 HG02083.hp1 others(8): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0036a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0036t0001others(3): Show | a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0100 others(8): Show |
11 | 394 | 0.0279 | 26 | c.341 others(43): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414002 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0003 | a0003c0003t0014 | a0003c0003t0014g0209 | 1 | 394 | 0.0025 | 26 | c.341 others(43): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414853 | T | TATAATAT others(19): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00609.hp2 HG00642.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0001g0015 a0001c0001t0001g0296 a0001c0001t0001g0297 others(36): Show |
40 | 394 | 0.1015 | 26 | c.341 others(45): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414853 | T | TATAATAT others(19): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01943.hp1 HG02145.hp2 |
a0005a0007a0019 | a0005c0005a0007c0007a0019c0023 | a0005c0005t0001a0007c0007t0002a0019c0023t0008 | a0005c0005t0001g0083 a0007c0007t0002g0271 a0019c0023t0008g0079 |
3 | 394 | 0.0076 | 26 | c.341 others(45): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166475093 | C | CGTATATA others(19): Show |
intron_variant | MODIFIER | HG03471.hp1 HG03579.hp2 |
a0026a0027 | a0026c0035a0027c0032 | a0026c0035t0008a0027c0032t0008 | a0026c0035t0008g0372 a0027c0032t0008g0371 |
2 | 394 | 0.0051 | 26 | c.235 others(41): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 3/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166475123 | T | TATATATG others(19): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0025 | a0025c0033 | a0025c0033t0004 | a0025c0033t0004g0029 | 1 | 394 | 0.0025 | 26 | c.235 others(41): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 3/25 | chr2 | TogoVar | |||||||
SCNN1G_chr16_23177745_23221883 | 23204302 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0116 | 1 | 320 | 0.0031 | 26 | c.107 others(45): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23204332 | T | TACATATA others(19): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0096 | 1 | 320 | 0.0031 | 26 | c.107 others(45): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23204334 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0248 | 1 | 320 | 0.0031 | 26 | c.107 others(45): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 52945744 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02622.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0006a0001c0003t0008 | a0001c0001t0006g0034 a0001c0003t0008g0033 |
2 | 280 | 0.0071 | 26 | c.128 others(43): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCRG1_chr4_173379701_173404116 | 173396741 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0150 | 1 | 380 | 0.0026 | 26 | c.-15 others(43): Show |
SCRG1 | ENSG00000164106.8 | transcript | ENST00000296506.8 | protein_coding | 1/2 | chr4 | TogoVar | |||||||
SCRN1_chr7_29915109_29994801 | 29966159 | C | CAGAGAGA others(19): Show |
intron_variant | MODIFIER | NA18522.hp2 NA19088.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0006 | a0001c0001t0006g0191 a0002c0002t0006g0223 |
2 | 274 | 0.0073 | 26 | c.159 others(43): Show |
SCRN1 | ENSG00000136193.17 | transcript | ENST00000242059.10 | protein_coding | 2/7 | chr7 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119444440 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01952.hp2 NA20905.hp2 |
a0001 | a0001c0002a0001c0016 | a0001c0002t0004a0001c0016t0001 | a0001c0002t0004g0037 a0001c0016t0001g0284 |
2 | 290 | 0.0069 | 26 | c.114 others(45): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119444506 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0159 a0001c0002t0004g0032 |
2 | 290 | 0.0069 | 26 | c.114 others(45): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
SCT_chr11_621309_632181 | 628896 | C | CTTTTCTT others(19): Show |
upstream_gene_variant | MODIFIER | HG02717.hp2 HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 411 | 0.0073 | 26 | c.-17 others(37): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 1716 | chr11 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43192577 | T | TGTATATA others(19): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0153 | 1 | 280 | 0.0036 | 26 | c.*11 others(39): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4702 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43192610 | G | GTATATAT others(19): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0252 | 1 | 280 | 0.0036 | 26 | c.*11 others(39): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4669 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43281314 | T | TCCTCAGC others(19): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0006 | a0001c0006t0011 | a0001c0006t0011g0198 | 1 | 280 | 0.0036 | 26 | c.484 others(43): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43281540 | T | TCACCCTC others(19): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0087 a0003c0001t0001g0088 |
2 | 280 | 0.0071 | 26 | c.484 others(43): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054701 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0344 | 1 | 358 | 0.0028 | 26 | c.120 others(43): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0015 | a0015c0018 | a0015c0018t0001 | a0015c0018t0001g0005 | 1 | 358 | 0.0028 | 26 | c.120 others(43): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054725 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0021 | a0001c0021t0001 | a0001c0021t0001g0052 | 1 | 358 | 0.0028 | 26 | c.120 others(43): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCYGR1_chr2_227382683_227392949 | 227389893 | C | CTTTTCTT others(19): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0000 | 1 | 454 | 0.0022 | 26 | c.-19 others(37): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 1945 | chr2 | TogoVar | |||||||
SCYL1_chr11_65520083_65543704 | 65524847 | G | GCCCCGCC others(19): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 278 | 0.0036 | 26 | c.-30 others(35): Show |
SCYL1 | ENSG00000142186.18 | transcript | ENST00000270176.10 | protein_coding | 235 | chr11 | TogoVar | |||||||
SCYL1_chr11_65520083_65543704 | 65524863 | G | GCCCCCCC others(19): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG01978.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0045 others(2): Show |
5 | 278 | 0.0180 | 26 | c.-29 others(35): Show |
SCYL1 | ENSG00000142186.18 | transcript | ENST00000270176.10 | protein_coding | 219 | chr11 | TogoVar | |||||||
SCYL1_chr11_65520083_65543704 | 65524888 | G | GCCCCCCC others(19): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG02055.hp1 HG02056.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0024 others(1): Show |
4 | 278 | 0.0144 | 26 | c.-26 others(35): Show |
SCYL1 | ENSG00000142186.18 | transcript | ENST00000270176.10 | protein_coding | 194 | chr11 | TogoVar | |||||||
SCYL1_chr11_65520083_65543704 | 65524913 | G | GCCCCCCC others(19): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0042 others(1): Show |
6 | 278 | 0.0216 | 26 | c.-24 others(35): Show |
SCYL1 | ENSG00000142186.18 | transcript | ENST00000270176.10 | protein_coding | 169 | chr11 | TogoVar | |||||||
SCYL3_chr1_169844631_169898896 | 169851045 | C | CTTTTTTT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0299 | 1 | 418 | 0.0024 | 26 | c.*26 others(37): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 13/13 | 2667 | chr1 | TogoVar | ||||||
SDAD1_chr4_75944915_75995945 | 75994045 | A | AAAAAATA others(19): Show |
upstream_gene_variant | MODIFIER | HG03209.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0282 | 1 | 376 | 0.0027 | 26 | c.-32 others(37): Show |
SDAD1 | ENSG00000198301.12 | transcript | ENST00000356260.10 | protein_coding | 3101 | chr4 | TogoVar | |||||||
SDC2_chr8_96488813_96616790 | 96540340 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 334 | 0.0030 | 26 | c.60+ others(43): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96540340 | G | GTGTATAT others(19): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0268 | 1 | 334 | 0.0030 | 26 | c.60+ others(43): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDC2_chr8_96488813_96616790 | 96565084 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 NA19002.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0040 a0001c0003t0001g0243 |
2 | 334 | 0.0060 | 26 | c.61- others(43): Show |
SDC2 | ENSG00000169439.12 | transcript | ENST00000302190.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SDCCAG8_chr1_243251041_243505091 | 243294506 | C | CGAGAGAG others(19): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01243.hp2 HG01257.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0002t0002g0080 others(4): Show |
7 | 189 | 0.0370 | 26 | c.675 others(43): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDF2_chr17_28643346_28666906 | 28663828 | A | ATTTTTTT others(19): Show |
upstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 398 | 0.0025 | 26 | c.-19 others(37): Show |
SDF2 | ENSG00000132581.10 | transcript | ENST00000247020.9 | protein_coding | 1923 | chr17 | TogoVar | |||||||
SDHAF3_chr7_97112698_97186763 | 97183901 | C | CTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 NA18971.hp2 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0321 a0001c0001t0002g0070 a0001c0001t0002g0087 |
3 | 402 | 0.0075 | 26 | c.*26 others(37): Show |
SDHAF3 | ENSG00000196636.8 | transcript | ENST00000432641.3 | protein_coding | 2139 | chr7 | TogoVar |