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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCN9A_chr2_166190185_166380944 | 166255118 | GGAGAGA | G | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp2 HG01167.hp1 others(24): Show |
a0001a0003a0005others(2): Show | a0001c0006a0003c0013a0003c0014others(11): Show | a0001c0006t0002a0003c0013t0003a0003c0014t0003others(12): Show | a0001c0006t0002g0033 a0001c0006t0002g0034 a0001c0006t0002g0035 others(24): Show |
27 | 296 | 0.0912 | -6 | c.335 others(25): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 17/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166270762 | GATATAT | G | intron_variant | MODIFIER | HG00735.hp2 HG01123.hp2 HG01175.hp1 others(21): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0007a0001c0011others(13): Show | a0001c0001t0002a0001c0007t0001a0001c0011t0018others(15): Show | a0001c0001t0002g0064 a0001c0007t0001g0060 a0001c0011t0018g0021 others(21): Show |
24 | 296 | 0.0811 | -6 | c.335 others(25): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 17/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166288093 | TTATATA | T | intron_variant | MODIFIER | HG01106.hp1 HG01168.hp2 HG02145.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0007a0001c0011others(6): Show | a0001c0002t0005a0001c0002t0006a0001c0007t0001others(7): Show | a0001c0002t0005g0105 a0001c0002t0006g0269 a0001c0007t0001g0030 others(8): Show |
11 | 296 | 0.0372 | -6 | c.131 others(23): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 10/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166297196 | CAAAAAA | C | intron_variant | MODIFIER | HG02257.hp1 HG02818.hp2 NA18906.hp2 others(4): Show |
a0001a0003a0009 | a0001c0001a0001c0005a0001c0007others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0005others(2): Show | a0001c0001t0001g0068 a0001c0005t0001g0141 a0001c0007t0005g0260 others(4): Show |
7 | 296 | 0.0237 | -6 | c.902 others(23): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 7/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166335260 | CTAAACA | C | intron_variant | MODIFIER | HG01243.hp2 HG02602.hp2 HG04228.hp2 |
a0001a0006 | a0001c0002a0006c0019 | a0001c0002t0028a0006c0019t0004 | a0001c0002t0028g0253 a0006c0019t0004g0251 a0006c0019t0004g0252 |
3 | 296 | 0.0101 | -6 | c.-50 others(25): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166340535 | TCTTTCC | T | intron_variant | MODIFIER | HG02451.hp1 HG02523.hp2 HG02615.hp1 others(4): Show |
a0001a0002a0004others(2): Show | a0001c0002a0001c0003a0002c0036others(3): Show | a0001c0002t0001a0001c0002t0021a0001c0003t0014others(4): Show | a0001c0002t0001g0195 a0001c0002t0021g0011 a0001c0003t0014g0009 others(4): Show |
7 | 296 | 0.0237 | -6 | c.-50 others(25): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166370192 | AAATAAT | A | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG02004.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0035a0001c0003t0001 | a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0188 others(2): Show |
5 | 296 | 0.0169 | -6 | c.-51 others(23): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCNM1_chr1_151161144_151175296 | 151172811 | GTTGTTT | G | downstream_gene_variant | MODIFIER | HG02451.hp2 HG03225.hp1 HG03453.hp1 |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0009 | 3 | 378 | 0.0079 | -6 | c.*37 others(17): Show |
SCNM1 | ENSG00000163156.12 | transcript | ENST00000368905.9 | protein_coding | 2516 | chr1 | TogoVar | |||||||
SCNN1A_chr12_6341847_6380563 | 6343682 | AAGAGGG | A | downstream_gene_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG01884.hp2 others(21): Show |
a0002a0003a0004others(2): Show | a0002c0028a0003c0003a0004c0009others(5): Show | a0002c0028t0003a0003c0003t0001a0003c0003t0006others(6): Show | a0002c0028t0003g0124 a0003c0003t0001g0346 a0003c0003t0006g0228 others(21): Show |
24 | 454 | 0.0529 | -6 | c.*41 others(17): Show |
SCNN1A | ENSG00000111319.13 | transcript | ENST00000228916.7 | protein_coding | 3164 | chr12 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23365551 | AGGAAAG | A | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG02004.hp2 others(9): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0072 a0001c0001t0001g0213 a0001c0001t0001g0269 others(9): Show |
12 | 306 | 0.0392 | -6 | c.777 others(23): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 4/12 | chr16 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23374268 | GAAAAAA | G | intron_variant | MODIFIER | HG01074.hp1 HG01516.hp1 HG01516.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0070 a0001c0001t0001g0111 others(9): Show |
12 | 306 | 0.0392 | -6 | c.115 others(25): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23376345 | CGTGTGT | C | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01099.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0028 others(42): Show |
45 | 306 | 0.1471 | -6 | c.127 others(23): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23204288 | CATATAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00642.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0064 others(30): Show |
34 | 320 | 0.1063 | -6 | c.107 others(25): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23204330 | TATATAG | T | intron_variant | MODIFIER | HG01358.hp1 HG03195.hp1 HG03490.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0118 others(1): Show |
4 | 320 | 0.0125 | -6 | c.107 others(25): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23204332 | TATAGAG | T | intron_variant | MODIFIER | HG00597.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0220 others(1): Show |
4 | 320 | 0.0125 | -6 | c.107 others(25): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCO1_chr17_10667474_10702533 | 10695706 | TTTATAC | T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013a0001c0001t0014others(19): Show | a0001c0001t0008g0007 a0001c0001t0008g0075 a0001c0001t0008g0081 others(35): Show |
52 | 416 | 0.1250 | -6 | c.364 others(19): Show |
SCO1 | ENSG00000133028.12 | transcript | ENST00000255390.10 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
SCOC_chr4_140368646_140390728 | 140369857 | ATTTTTT | A | upstream_gene_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0020 others(12): Show |
33 | 418 | 0.0790 | -6 | c.-39 others(17): Show |
SCOC | ENSG00000153130.18 | transcript | ENST00000608372.6 | protein_coding | 3788 | chr4 | TogoVar | |||||||
SCP2_chr1_52922276_53056698 | 52956902 | CTTTTTT | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(57): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0002t0001g0040 a0001c0002t0001g0098 a0001c0002t0001g0100 others(57): Show |
60 | 280 | 0.2143 | -6 | c.396 others(23): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 52960480 | ATGTGTG | A | intron_variant | MODIFIER | HG00639.hp1 HG01884.hp1 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0068 a0001c0001t0001g0151 a0001c0001t0001g0152 others(7): Show |
10 | 280 | 0.0357 | -6 | c.397 others(21): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 52987006 | ATTTTTT | A | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0004a0001c0004t0009 | a0001c0003t0001g0230 a0001c0003t0001g0243 a0001c0003t0001g0246 others(3): Show |
6 | 280 | 0.0214 | -6 | c.974 others(23): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 53037879 | TACACAC | T | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0055 a0001c0001t0001g0136 a0001c0001t0001g0216 others(2): Show |
5 | 280 | 0.0179 | -6 | c.133 others(23): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 53037950 | TACACAC | T | intron_variant | MODIFIER | HG03669.hp1 NA18954.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0074 a0001c0001t0001g0244 |
3 | 280 | 0.0107 | -6 | c.133 others(23): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 53054220 | TGAACTC | T | downstream_gene_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG02970.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0139 a0001c0002t0003g0142 a0001c0002t0003g0143 |
3 | 280 | 0.0107 | -6 | c.*35 others(17): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 2523 | chr1 | TogoVar | |||||||
SCRN3_chr2_174390730_174434575 | 174403528 | CAATAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00639.hp2 others(69): Show |
a0000a0001 | a0000c0002a0001c0001 | a0000c0002t0002a0000c0002t0004a0000c0002t0012others(1): Show | a0000c0002t0002g0002 a0000c0002t0002g0009 a0000c0002t0002g0010 others(35): Show |
72 | 364 | 0.1978 | -6 | c.542 others(21): Show |
SCRN3 | ENSG00000144306.15 | transcript | ENST00000272732.11 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCRT1_chr8_144325565_144341482 | 144336889 | ACGGCGG | A | upstream_gene_variant | MODIFIER | HG02280.hp2 NA19000.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0015 | a0001c0001t0004g0004 a0001c0001t0015g0079 |
3 | 398 | 0.0075 | -6 | c.-72 others(15): Show |
SCRT1 | ENSG00000261678.3 | transcript | ENST00000569446.3 | protein_coding | 408 | chr8 | TogoVar | |||||||
SCRT2_chr20_656596_680802 | 672388 | CGTGTGT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00544.hp1 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0019 a0001c0001t0001g0043 others(62): Show |
94 | 458 | 0.2052 | -6 | c.133 others(23): Show |
SCRT2 | ENSG00000215397.4 | transcript | ENST00000246104.7 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
SCRT2_chr20_656596_680802 | 674397 | TCTCACA | T | intron_variant | MODIFIER | HG02056.hp2 HG02258.hp1 HG03453.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013 | a0001c0001t0001g0007 a0001c0001t0003g0042 a0001c0001t0003g0185 others(1): Show |
8 | 458 | 0.0175 | -6 | c.133 others(23): Show |
SCRT2 | ENSG00000215397.4 | transcript | ENST00000246104.7 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
SCRT2_chr20_656596_680802 | 674399 | TCACACA | T | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG00733.hp2 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0026 others(22): Show |
34 | 458 | 0.0742 | -6 | c.133 others(23): Show |
SCRT2 | ENSG00000215397.4 | transcript | ENST00000246104.7 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
SCRT2_chr20_656596_680802 | 674688 | AGTGTGT | A | intron_variant | MODIFIER | HG02976.hp1 HG03540.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 3 | 458 | 0.0066 | -6 | c.133 others(21): Show |
SCRT2 | ENSG00000215397.4 | transcript | ENST00000246104.7 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
SCRT2_chr20_656596_680802 | 674727 | GTGTGTA | G | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00621.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0095 others(23): Show |
39 | 458 | 0.0852 | -6 | c.133 others(21): Show |
SCRT2 | ENSG00000215397.4 | transcript | ENST00000246104.7 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119512305 | TCTTCCC | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(58): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0002a0004c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0131 others(58): Show |
61 | 290 | 0.2103 | -6 | c.72+ others(23): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119512340 | CCCTTCT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00735.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0123 a0001c0001t0001g0161 a0001c0001t0001g0163 others(36): Show |
40 | 290 | 0.1379 | -6 | c.72+ others(23): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119523392 | CTATTAT | C | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp2 HG01074.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0273 others(15): Show |
18 | 290 | 0.0621 | -6 | c.72+ others(19): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
SCT_chr11_621309_632181 | 628949 | CTTTCTT | C | upstream_gene_variant | MODIFIER | NA18964.hp2 NA19011.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 411 | 0.0073 | -6 | c.-18 others(17): Show |
SCT | ENSG00000070031.4 | transcript | ENST00000176195.4 | protein_coding | 1769 | chr11 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43192609 | CGTGTAT | C | downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01975.hp2 others(2): Show |
a0001 | a0001c0006a0001c0044a0001c0051 | a0001c0006t0011a0001c0006t0019a0001c0044t0035others(1): Show | a0001c0006t0011g0223 a0001c0006t0019g0067 a0001c0006t0019g0168 others(2): Show |
5 | 280 | 0.0179 | -6 | c.*11 others(19): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4670 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43196565 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG01496.hp1 HG02056.hp2 others(7): Show |
a0001a0002a0005others(4): Show | a0001c0012a0002c0002a0005c0016others(5): Show | a0001c0012t0096a0002c0002t0007a0005c0016t0079others(6): Show | a0001c0012t0096g0277 a0002c0002t0007g0047 a0005c0016t0079g0132 others(7): Show |
10 | 280 | 0.0357 | -6 | c.*74 others(17): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 714 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43255872 | GGAGGCT | G | intron_variant | MODIFIER | HG02976.hp1 HG03098.hp1 HG03453.hp2 others(1): Show |
a0002a0003a0013 | a0002c0002a0003c0001a0013c0057 | a0002c0002t0029a0002c0002t0042a0003c0001t0085others(1): Show | a0002c0002t0029g0003 a0002c0002t0042g0041 a0003c0001t0085g0267 others(1): Show |
4 | 280 | 0.0143 | -6 | c.727 others(23): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 6/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43281038 | TATCCTG | T | intron_variant | MODIFIER | HG00597.hp1 HG02056.hp1 HG02080.hp1 others(5): Show |
a0002a0006a0012 | a0002c0002a0002c0005a0006c0015others(1): Show | a0002c0002t0002a0002c0002t0007a0002c0005t0001others(2): Show | a0002c0002t0002g0036 a0002c0002t0002g0106 a0002c0002t0002g0250 others(5): Show |
8 | 280 | 0.0286 | -6 | c.484 others(25): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 4/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43340481 | TACACAC | T | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00735.hp1 others(30): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0004a0001c0008others(14): Show | a0001c0003t0003a0001c0004t0004a0001c0004t0016others(20): Show | a0001c0003t0003g0001 a0001c0003t0003g0037 a0001c0004t0004g0233 others(29): Show |
33 | 280 | 0.1179 | -6 | c.89- others(21): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | |||||||
SCUBE1_chr22_43192280_43348372 | 43344508 | GCACACA | G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01099.hp1 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0006others(10): Show | a0001c0003t0006a0001c0003t0064a0001c0004t0004others(17): Show | a0001c0003t0006g0163 a0001c0003t0064g0167 a0001c0004t0004g0233 others(20): Show |
23 | 280 | 0.0821 | -6 | c.-12 others(17): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1137 | chr22 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9031874 | TTATAGA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(139): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0013others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0002g0219 a0001c0001t0002g0277 a0001c0001t0002g0314 others(137): Show |
142 | 358 | 0.3967 | -6 | c.217 others(23): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 17/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9045604 | CAGACAG | C | intron_variant | MODIFIER | HG00438.hp2 HG02145.hp1 HG02523.hp2 others(7): Show |
a0006a0007a0008 | a0006c0010a0007c0007a0008c0008others(1): Show | a0006c0010t0001a0006c0010t0006a0007c0007t0011others(3): Show | a0006c0010t0001g0039 a0006c0010t0006g0008 a0006c0010t0006g0018 others(7): Show |
10 | 358 | 0.0279 | -6 | c.200 others(25): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 16/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9045606 | GACAGAC | G | intron_variant | MODIFIER | HG00558.hp2 HG02071.hp2 HG02155.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0003a0001c0001t0004a0002c0002t0001others(4): Show | a0001c0001t0003g0248 a0001c0001t0003g0311 a0001c0001t0003g0315 others(11): Show |
14 | 358 | 0.0391 | -6 | c.200 others(25): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 16/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9045610 | GACACAC | G | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp1 others(52): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0004a0001c0001t0007a0002c0002t0009others(15): Show | a0001c0001t0004g0294 a0001c0001t0004g0341 a0001c0001t0004g0342 others(51): Show |
55 | 358 | 0.1536 | -6 | c.200 others(25): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 16/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9054699 | GTGTATA | G | intron_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02723.hp2 others(2): Show |
a0002a0003a0008 | a0002c0002a0003c0003a0008c0027 | a0002c0002t0001a0002c0002t0010a0003c0003t0010others(1): Show | a0002c0002t0001g0010 a0002c0002t0001g0115 a0002c0002t0010g0038 others(2): Show |
5 | 358 | 0.0140 | -6 | c.120 others(23): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 10/22 | chr11 | TogoVar | |||||||
SCUBE2_chr11_9014476_9096599 | 9070143 | AAGAGAC | A | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG01346.hp2 others(18): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0004a0002c0002t0001a0002c0002t0009others(11): Show | a0001c0001t0004g0350 a0002c0002t0001g0005 a0002c0002t0009g0007 others(18): Show |
21 | 358 | 0.0587 | -6 | c.518 others(21): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 4/22 | chr11 | TogoVar | |||||||
SCYGR5_chr2_227661804_227672061 | 227669569 | TAAAATA | T | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01255.hp1 HG02055.hp1 others(12): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0008a0005c0006others(1): Show | a0001c0002t0000a0002c0008t0000a0005c0006t0000others(1): Show | a0001c0002t0000g0000 a0002c0008t0000g0000 a0005c0006t0000g0000 others(1): Show |
15 | 460 | 0.0326 | -6 | c.*25 others(17): Show |
SCYGR5 | ENSG00000284667.1 | transcript | ENST00000641976.1 | protein_coding | 2509 | chr2 | TogoVar | |||||||
SCYL2_chr12_100262177_100346715 | 100295770 | CGGGAGA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 others(56): Show |
62 | 220 | 0.2818 | -6 | c.336 others(23): Show |
SCYL2 | ENSG00000136021.19 | transcript | ENST00000360820.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCYL2_chr12_100262177_100346715 | 100309106 | TTGTGTG | T | intron_variant | MODIFIER | HG00544.hp2 HG02056.hp1 NA18612.hp2 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0198 a0001c0005t0005g0199 a0001c0005t0005g0200 others(4): Show |
7 | 220 | 0.0318 | -6 | c.481 others(23): Show |
SCYL2 | ENSG00000136021.19 | transcript | ENST00000360820.7 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCYL3_chr1_169844631_169898896 | 169847313 | TAAAAAA | T | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01168.hp1 HG01169.hp1 others(20): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0016others(1): Show | a0001c0001t0030a0001c0001t0056a0001c0001t0057others(7): Show | a0001c0001t0030g0164 a0001c0001t0030g0208 a0001c0001t0056g0209 others(16): Show |
23 | 418 | 0.0550 | -6 | c.*63 others(17): Show |
SCYL3 | ENSG00000000457.14 | transcript | ENST00000367771.11 | protein_coding | 2317 | chr1 | TogoVar |