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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRPK2_chr7_105111374_105393921 | 105159448 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 a0001c0001t0001g0266 |
2 | 282 | 0.0071 | 18 | c.621 others(35): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 7/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105168745 | A | ATGTGTGT others(11): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01952.hp1 HG01975.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0232 a0001c0001t0001g0236 a0001c0001t0001g0237 others(13): Show |
16 | 282 | 0.0567 | 18 | c.338 others(33): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 4/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105170819 | G | GAAAGGAA others(11): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 282 | 0.0036 | 18 | c.230 others(35): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105170967 | G | GAAAGAAA others(11): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 282 | 0.0036 | 18 | c.230 others(35): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105245034 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 | 1 | 282 | 0.0036 | 18 | c.72- others(35): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105247531 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01168.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0254 a0001c0001t0002g0228 a0001c0001t0002g0253 others(3): Show |
6 | 282 | 0.0213 | 18 | c.72- others(35): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105359150 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0034 | 1 | 282 | 0.0036 | 18 | c.71+ others(35): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPK2_chr7_105111374_105393921 | 105369125 | T | TTTATTAT others(11): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 282 | 0.0036 | 18 | c.71+ others(35): Show |
SRPK2 | ENSG00000135250.17 | transcript | ENST00000393651.8 | protein_coding | 2/15 | chr7 | TogoVar | |||||||
SRPX2_chrX_100639199_100680788 | 100657349 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069 | 1 | 318 | 0.0031 | 18 | c.164 others(35): Show |
SRPX2 | ENSG00000102359.9 | transcript | ENST00000373004.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SRPX_chrX_38144339_38225871 | 38148377 | G | GCTTTCTG others(11): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 257 | 0.0039 | 18 | c.*13 others(29): Show |
SRPX | ENSG00000101955.15 | transcript | ENST00000378533.4 | protein_coding | 961 | chrX | TogoVar | |||||||
SRRD_chr22_26478877_26499658 | 26490559 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 448 | 0.0022 | 18 | c.764 others(33): Show |
SRRD | ENSG00000100104.13 | transcript | ENST00000215917.11 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SRRM1_chr1_24638302_24678281 | 24640519 | C | CAAAAAAA others(11): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02135.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0003 | a0001c0001t0001g0153 a0001c0001t0001g0165 a0001c0001t0003g0149 others(1): Show |
4 | 352 | 0.0114 | 18 | c.-28 others(29): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 2782 | chr1 | TogoVar | |||||||
SRRM1_chr1_24638302_24678281 | 24652029 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02451.hp1 HG02738.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0007t0001 | a0001c0001t0001g0021 a0001c0001t0001g0139 a0001c0001t0001g0155 others(4): Show |
7 | 352 | 0.0199 | 18 | c.726 others(33): Show |
SRRM1 | ENSG00000133226.19 | transcript | ENST00000323848.14 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76221359 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18990.hp1 |
a0002 | a0002c0006a0002c0018 | a0002c0006t0001a0002c0018t0003 | a0002c0006t0001g0284 a0002c0018t0003g0324 |
2 | 324 | 0.0062 | 18 | c.-39 others(37): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRRM3_chr7_76196896_76292287 | 76234194 | A | AGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18990.hp1 NA19030.hp2 others(1): Show |
a0002 | a0002c0002a0002c0006 | a0002c0002t0001a0002c0002t0003a0002c0006t0001 | a0002c0002t0001g0266 a0002c0002t0003g0015 a0002c0006t0001g0283 others(1): Show |
4 | 324 | 0.0124 | 18 | c.-39 others(33): Show |
SRRM3 | ENSG00000177679.16 | transcript | ENST00000611745.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119043775 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0044 | 1 | 328 | 0.0031 | 18 | c.132 others(37): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM4_chr12_118976541_119168051 | 119117596 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01123.hp1 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(18): Show | a0001c0001t0001g0153 a0001c0001t0003g0036 a0001c0001t0003g0159 others(20): Show |
24 | 328 | 0.0732 | 18 | c.437 others(33): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRRM5_chr19_43607088_43619498 | 43609359 | G | GGAGAGAG others(11): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01257.hp2 others(8): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0004c0004t0001 | a0002c0002t0001g0000 a0004c0004t0001g0000 |
11 | 416 | 0.0264 | 18 | c.-27 others(29): Show |
SRRM5 | ENSG00000226763.5 | transcript | ENST00000417606.3 | protein_coding | 2728 | chr19 | TogoVar | |||||||
SRRM5_chr19_43607088_43619498 | 43609360 | G | GAGAGAGA others(11): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(184): Show |
a0001a0002a0007others(7): Show | a0001c0001a0001c0016a0001c0017others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0016t0001others(10): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0016t0001g0000 others(10): Show |
187 | 416 | 0.4495 | 18 | c.-27 others(29): Show |
SRRM5 | ENSG00000226763.5 | transcript | ENST00000417606.3 | protein_coding | 2727 | chr19 | TogoVar | |||||||
SRRM5_chr19_43607088_43619498 | 43609360 | G | GAGAGAGG others(11): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 416 | 0.0024 | 18 | c.-27 others(29): Show |
SRRM5 | ENSG00000226763.5 | transcript | ENST00000417606.3 | protein_coding | 2727 | chr19 | TogoVar | |||||||
SRRM5_chr19_43607088_43619498 | 43609365 | A | AGAGAGAG others(11): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 416 | 0.0048 | 18 | c.-27 others(29): Show |
SRRM5 | ENSG00000226763.5 | transcript | ENST00000417606.3 | protein_coding | 2722 | chr19 | TogoVar | |||||||
SRR_chr17_2298950_2330260 | 2321401 | A | AATTGCCC others(11): Show |
disruptive_inframe_insertion | MODERATE | NA19055.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0096 | 1 | 370 | 0.0027 | 18 | c.497 others(25): Show |
p.Ile others(13): Show |
SRR | ENSG00000167720.13 | transcript | ENST00000344595.10 | protein_coding | 5/8 | 587/2482 | 515/1023 | 172/340 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
SRSF3_chr6_36589362_36610600 | 36596571 | T | TGGGCGGG others(11): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0198 | 1 | 382 | 0.0026 | 18 | c.-2- others(31): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SRSF3_chr6_36589362_36610600 | 36596574 | C | CGGGGGGG others(11): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01516.hp1 HG02148.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0002g0039 a0001c0001t0002g0191 a0001c0001t0003g0087 others(2): Show |
6 | 382 | 0.0157 | 18 | c.-2- others(31): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SRSF8_chr11_95061919_95076225 | 95070368 | C | CAAAAAAA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00609.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0035 | a0001c0001t0007g0000 a0001c0001t0035g0000 |
12 | 402 | 0.0299 | 18 | c.*23 others(29): Show |
SRSF8 | ENSG00000263465.5 | transcript | ENST00000587424.3 | protein_coding | 1/1 | 2310 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SRXN1_chr20_641615_658200 | 646515 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG00673.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0024 a0001c0001t0002g0001 a0001c0001t0002g0004 others(20): Show |
46 | 422 | 0.1090 | 18 | c.*21 others(29): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 99 | chr20 | TogoVar | |||||||
SS18L1_chr20_62138769_62187514 | 62146605 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01255.hp2 HG03017.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0014 | a0001c0002t0004a0001c0002t0023a0001c0002t0026others(1): Show | a0001c0002t0004g0281 a0001c0002t0004g0282 a0001c0002t0023g0279 others(2): Show |
5 | 316 | 0.0158 | 18 | c.69+ others(33): Show |
SS18L1 | ENSG00000184402.15 | transcript | ENST00000331758.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SS18_chr18_26011253_26095613 | 26065800 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01071.hp1 HG01255.hp2 others(29): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0115 others(29): Show |
32 | 318 | 0.1006 | 18 | c.232 others(35): Show |
SS18 | ENSG00000141380.14 | transcript | ENST00000415083.7 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81445136 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0058 | a0001c0001t0058g0101 | 1 | 206 | 0.0049 | 18 | c.802 others(35): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81445138 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 206 | 0.0049 | 18 | c.802 others(35): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81488010 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0002 | a0001c0002t0039 | a0001c0002t0039g0066 | 1 | 206 | 0.0049 | 18 | c.432 others(35): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 6/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81501268 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 206 | 0.0049 | 18 | c.373 others(37): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 5/16 | chr5 | TogoVar | |||||||
SSBP2_chr5_81407804_81756097 | 81542817 | T | TTCTCTCT others(11): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02886.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0018others(1): Show | a0001c0001t0004g0155 a0001c0001t0007g0100 a0001c0001t0018g0192 others(1): Show |
4 | 206 | 0.0194 | 18 | c.283 others(37): Show |
SSBP2 | ENSG00000145687.17 | transcript | ENST00000615665.5 | protein_coding | 4/16 | chr5 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54240047 | G | GGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 280 | 0.0036 | 18 | c.856 others(33): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 13/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54276608 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0014a0001c0002t0013 | a0001c0001t0014g0065 a0001c0002t0013g0031 |
2 | 280 | 0.0071 | 18 | c.366 others(35): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 5/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54282041 | A | AAATAATA others(11): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02148.hp1 HG02148.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0032 a0001c0001t0002g0121 a0001c0001t0003g0162 others(9): Show |
12 | 280 | 0.0429 | 18 | c.277 others(33): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54298930 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp1 HG00621.hp2 others(33): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0024 a0001c0001t0001g0055 a0001c0001t0001g0097 others(33): Show |
36 | 280 | 0.1286 | 18 | c.277 others(37): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54337485 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02735.hp2 HG02970.hp1 HG03486.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0002t0013 | a0001c0001t0005g0067 a0001c0001t0006g0183 a0001c0002t0013g0088 |
3 | 280 | 0.0107 | 18 | c.277 others(37): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54386683 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG02895.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0004g0061 others(6): Show |
9 | 280 | 0.0321 | 18 | c.276 others(37): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSBP3_chr1_54220432_54411394 | 54396193 | G | GAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01258.hp1 HG02129.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0028 | a0001c0001t0004g0077 a0001c0001t0028g0269 |
2 | 280 | 0.0071 | 18 | c.276 others(35): Show |
SSBP3 | ENSG00000157216.17 | transcript | ENST00000610401.6 | protein_coding | 4/17 | chr1 | TogoVar | |||||||
SSC4D_chr7_76384337_76414697 | 76393371 | C | CCGCTGTC others(11): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 388 | 0.0026 | 18 | c.133 others(33): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 9/10 | chr7 | TogoVar | |||||||
SSC4D_chr7_76384337_76414697 | 76405271 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 a0001c0001t0001g0279 |
2 | 388 | 0.0052 | 18 | c.-66 others(33): Show |
SSC4D | ENSG00000146700.9 | transcript | ENST00000275560.4 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02165.hp2 NA18612.hp2 others(8): Show |
a0001a0003a0004others(1): Show | a0001c0074a0003c0109a0004c0004others(1): Show | a0001c0074t0001a0003c0109t0002a0004c0004t0001others(1): Show | a0001c0074t0001g0289 a0003c0109t0002g0237 a0004c0004t0001g0240 others(8): Show |
11 | 412 | 0.0267 | 18 | c.138 others(35): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSC5D_chr19_55483436_55524099 | 55495233 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 412 | 0.0024 | 18 | c.138 others(35): Show |
SSC5D | ENSG00000179954.16 | transcript | ENST00000389623.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SSH2_chr17_29620938_29935228 | 29709015 | T | TATATATA others(11): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 232 | 0.0043 | 18 | c.189 others(35): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29742481 | G | GTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0187 | 1 | 232 | 0.0043 | 18 | c.189 others(37): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 3/15 | chr17 | TogoVar | |||||||
SSH2_chr17_29620938_29935228 | 29841892 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0005 | a0005c0007 | a0005c0007t0014 | a0005c0007t0014g0112 | 1 | 232 | 0.0043 | 18 | c.144 others(35): Show |
SSH2 | ENSG00000141298.19 | transcript | ENST00000540801.6 | protein_coding | 2/15 | chr17 | TogoVar | |||||||
SSPN_chr12_26190573_26239777 | 26233331 | G | GATATATA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02818.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0062 | a0001c0001t0061g0155 a0001c0001t0062g0154 |
2 | 384 | 0.0052 | 18 | c.*22 others(29): Show |
SSPN | ENSG00000123096.12 | transcript | ENST00000242729.7 | protein_coding | 3/3 | 2275 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SSPN_chr12_26190573_26239777 | 26233355 | T | TATATATA others(11): Show |
3_prime_UTR_variant | MODIFIER | HG03195.hp2 | a0005 | a0005c0006 | a0005c0006t0047 | a0005c0006t0047g0105 | 1 | 384 | 0.0026 | 18 | c.*22 others(29): Show |
SSPN | ENSG00000123096.12 | transcript | ENST00000242729.7 | protein_coding | 3/3 | 2281 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SSTR1_chr14_38202904_38218067 | 38213114 | A | AACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 HG03491.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0020 | a0001c0001t0005g0003 a0001c0001t0020g0002 |
3 | 456 | 0.0066 | 18 | c.*25 others(29): Show |
SSTR1 | ENSG00000139874.6 | transcript | ENST00000267377.3 | protein_coding | 48 | chr14 | TogoVar |