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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPTLC2_chr14_77500997_77621637 | 77584796 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02630.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0002t0007a0001c0002t0019others(3): Show | a0001c0001t0003g0184 a0001c0001t0003g0185 a0001c0002t0007g0236 others(8): Show |
11 | 246 | 0.0447 | 8 | c.328 others(25): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77589789 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02559.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0035a0001c0004t0004a0001c0005t0037 | a0001c0001t0035g0123 a0001c0004t0004g0190 a0001c0005t0037g0055 |
3 | 246 | 0.0122 | 8 | c.327 others(25): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77591692 | C | CTGTATGT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02818.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0006a0001c0002t0010a0001c0003t0001 | a0001c0002t0006g0115 a0001c0002t0010g0066 a0001c0002t0010g0067 others(1): Show |
4 | 246 | 0.0163 | 8 | c.327 others(25): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77591730 | G | GTATGTAT others(1): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02451.hp2 HG02559.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0046others(7): Show | a0001c0001t0001g0130 a0001c0001t0003g0065 a0001c0001t0046g0233 others(8): Show |
11 | 246 | 0.0447 | 8 | c.327 others(25): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77591730 | G | GTATTTAT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01168.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0035 a0001c0001t0001g0229 a0001c0001t0003g0221 others(12): Show |
15 | 246 | 0.0610 | 8 | c.327 others(25): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77596510 | T | TAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp2 others(40): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0023 a0001c0001t0001g0068 a0001c0001t0001g0070 others(40): Show |
43 | 246 | 0.1748 | 8 | c.327 others(23): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77606373 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02071.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0001t0035a0001c0002t0001 | a0001c0001t0024g0220 a0001c0001t0035g0123 a0001c0002t0001g0104 |
3 | 246 | 0.0122 | 8 | c.133 others(25): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1/11 | chr14 | TogoVar | |||||||
SPTLC3_chr20_13003972_13174103 | 13060377 | G | GTTATTTA others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03139.hp1 NA18961.hp1 |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0009a0001c0005t0048a0002c0002t0002 | a0001c0005t0009g0151 a0001c0005t0048g0164 a0002c0002t0002g0030 |
3 | 292 | 0.0103 | 8 | c.303 others(27): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTLC3_chr20_13003972_13174103 | 13063637 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG00741.hp1 others(63): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0182 others(63): Show |
66 | 292 | 0.2260 | 8 | c.304 others(25): Show |
SPTLC3 | ENSG00000172296.13 | transcript | ENST00000399002.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SPTSSA_chr14_34427788_34467240 | 34443355 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG01346.hp1 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0102 a0001c0001t0001g0129 a0001c0001t0001g0161 others(25): Show |
28 | 344 | 0.0814 | 8 | c.113 others(25): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
SPTSSA_chr14_34427788_34467240 | 34443506 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01167.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0109 a0001c0001t0001g0143 a0001c0001t0001g0174 others(12): Show |
15 | 344 | 0.0436 | 8 | c.113 others(25): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
SQLE_chr8_124993505_125027283 | 125001449 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01109.hp1 HG02257.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0004a0001c0002t0003others(1): Show | a0001c0001t0001g0046 a0001c0001t0001g0083 a0001c0001t0001g0144 others(5): Show |
9 | 378 | 0.0238 | 8 | c.292 others(25): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SQLE_chr8_124993505_125027283 | 125025833 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 NA20300.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0001 | a0001c0001t0004g0020 a0001c0001t0004g0103 a0001c0003t0001g0029 |
4 | 378 | 0.0106 | 8 | c.*38 others(19): Show |
SQLE | ENSG00000104549.12 | transcript | ENST00000265896.10 | protein_coding | 3551 | chr8 | TogoVar | |||||||
SQOR_chr15_45630029_45696281 | 45634198 | C | CTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG03453.hp2 NA18993.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0097 a0001c0001t0001g0228 a0001c0001t0002g0107 others(1): Show |
4 | 340 | 0.0118 | 8 | c.-92 others(17): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 830 | chr15 | TogoVar | |||||||
SQOR_chr15_45630029_45696281 | 45667028 | C | CCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03486.hp2 HG03669.hp2 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0001 | a0001c0001t0001g0261 a0005c0008t0001g0164 a0005c0008t0001g0231 |
3 | 340 | 0.0088 | 8 | c.406 others(25): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SQSTM1_chr5_179815905_179843078 | 179818012 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG01884.hp2 HG01981.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0013 | a0001c0001t0001a0001c0001t0003a0005c0013t0001 | a0001c0001t0001g0133 a0001c0001t0001g0165 a0001c0001t0001g0168 others(4): Show |
7 | 462 | 0.0152 | 8 | c.-29 others(19): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 2892 | chr5 | TogoVar | |||||||
SQSTM1_chr5_179815905_179843078 | 179834407 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01074.hp1 HG01081.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0011a0001c0002t0005others(2): Show | a0001c0001t0003g0042 a0001c0001t0003g0050 a0001c0001t0003g0104 others(11): Show |
14 | 462 | 0.0303 | 8 | c.116 others(25): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SRBD1_chr2_45383680_45616267 | 45414419 | C | CACATATA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(84): Show |
a0001a0002a0006others(2): Show | a0001c0014a0002c0002a0002c0004others(6): Show | a0001c0014t0001a0002c0002t0001a0002c0002t0005others(7): Show | a0001c0014t0001g0178 a0002c0002t0001g0003 a0002c0002t0001g0005 others(84): Show |
87 | 358 | 0.2430 | 8 | c.233 others(27): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 18/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45428573 | A | AATAAATA others(1): Show |
intron_variant | MODIFIER | HG01975.hp1 HG01978.hp1 HG01993.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0004a0003c0003others(1): Show | a0001c0001t0001a0002c0004t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0264 a0002c0004t0001g0076 a0002c0004t0001g0078 others(33): Show |
36 | 358 | 0.1006 | 8 | c.205 others(27): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45432003 | G | GTATTTAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(78): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0031 others(78): Show |
81 | 358 | 0.2263 | 8 | c.205 others(29): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45465046 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG01346.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0204 a0002c0002t0001g0099 a0002c0002t0001g0335 others(6): Show |
9 | 358 | 0.0251 | 8 | c.204 others(29): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 16/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45509598 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01069.hp2 HG02004.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0075 a0001c0001t0001g0224 others(8): Show |
11 | 358 | 0.0307 | 8 | c.187 others(29): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45521286 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0250 others(30): Show |
33 | 358 | 0.0922 | 8 | c.187 others(29): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45545283 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01074.hp1 HG02602.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0002others(1): Show | a0001c0001t0001a0001c0014t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 others(13): Show |
16 | 358 | 0.0447 | 8 | c.187 others(27): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45545315 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp2 others(11): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0081 a0002c0002t0001g0085 a0002c0002t0001g0088 others(11): Show |
14 | 358 | 0.0391 | 8 | c.187 others(27): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 14/20 | chr2 | TogoVar | |||||||
SRCIN1_chr17_38525031_38610952 | 38540772 | T | TGTGTGAG others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02559.hp1 HG02886.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0051 | a0001c0001t0004g0006 a0001c0001t0004g0233 a0001c0001t0004g0234 others(5): Show |
9 | 261 | 0.0345 | 8 | c.341 others(27): Show |
SRCIN1 | ENSG00000277363.5 | transcript | ENST00000617146.5 | protein_coding | 18/18 | chr17 | TogoVar | |||||||
SRCIN1_chr17_38525031_38610952 | 38566866 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00558.hp2 others(46): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(15): Show | a0001c0001t0001g0014 a0001c0001t0001g0061 a0001c0001t0001g0062 others(45): Show |
49 | 261 | 0.1877 | 8 | c.345 others(25): Show |
SRCIN1 | ENSG00000277363.5 | transcript | ENST00000617146.5 | protein_coding | 3/18 | chr17 | TogoVar | |||||||
SRC_chr20_37341140_37411050 | 37360218 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG01891.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 others(12): Show |
15 | 282 | 0.0532 | 8 | c.-24 others(27): Show |
SRC | ENSG00000197122.13 | transcript | ENST00000373578.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SRD5A1_chr5_6628440_6679386 | 6654430 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02109.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0045a0001c0002t0046a0001c0002t0062others(7): Show | a0001c0002t0045g0013 a0001c0002t0046g0021 a0001c0002t0062g0188 others(7): Show |
12 | 406 | 0.0296 | 8 | c.461 others(25): Show |
SRD5A1 | ENSG00000145545.13 | transcript | ENST00000274192.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SRD5A1_chr5_6628440_6679386 | 6654434 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01243.hp1 HG01891.hp2 others(26): Show |
a0001a0004 | a0001c0002a0001c0004a0004c0009 | a0001c0002t0001a0001c0002t0003a0001c0002t0014others(18): Show | a0001c0002t0001g0093 a0001c0002t0003g0099 a0001c0002t0014g0017 others(23): Show |
29 | 406 | 0.0714 | 8 | c.461 others(25): Show |
SRD5A1 | ENSG00000145545.13 | transcript | ENST00000274192.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SRD5A1_chr5_6628440_6679386 | 6678039 | T | TTCCATTC others(1): Show |
downstream_gene_variant | MODIFIER | HG01515.hp1 HG01975.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0038a0001c0002t0055a0001c0003t0042others(2): Show | a0001c0002t0038g0249 a0001c0002t0038g0250 a0001c0002t0055g0252 others(3): Show |
6 | 406 | 0.0148 | 8 | c.*97 others(19): Show |
SRD5A1 | ENSG00000145545.13 | transcript | ENST00000274192.7 | protein_coding | 3654 | chr5 | TogoVar | |||||||
SRD5A2_chr2_31517480_31585938 | 31554924 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01433.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0002g0309 |
3 | 386 | 0.0078 | 8 | c.282 others(27): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
SRD5A2_chr2_31517480_31585938 | 31559836 | C | CAACACAC others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02622.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0169 a0001c0001t0001g0307 a0001c0001t0001g0308 others(1): Show |
4 | 386 | 0.0104 | 8 | c.281 others(27): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
SRD5A2_chr2_31517480_31585938 | 31567454 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG01516.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 others(3): Show |
6 | 386 | 0.0155 | 8 | c.281 others(27): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
SRD5A2_chr2_31517480_31585938 | 31567456 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp2 others(142): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0018others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(127): Show |
145 | 386 | 0.3757 | 8 | c.281 others(27): Show |
SRD5A2 | ENSG00000277893.2 | transcript | ENST00000622030.2 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
SRD5A3_chr4_55341242_55378100 | 55370431 | T | TCACACAC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG01891.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0056a0001c0001t0057others(3): Show | a0001c0001t0016g0215 a0001c0001t0016g0216 a0001c0001t0016g0217 others(7): Show |
10 | 384 | 0.0260 | 8 | c.*37 others(17): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 5/5 | 383 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SREBF1_chr17_17806334_17841986 | 17821152 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01243.hp1 HG01243.hp2 others(19): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0002t0005a0001c0002t0023others(6): Show | a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0048 others(18): Show |
22 | 352 | 0.0625 | 8 | c.92- others(21): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17834025 | C | CAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02257.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0027a0001c0004t0020 | a0001c0001t0027g0080 a0001c0004t0020g0078 a0001c0004t0020g0079 |
3 | 352 | 0.0085 | 8 | c.91+ others(23): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41844033 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(14): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0003others(4): Show | a0001c0001t0001g0094 a0001c0001t0001g0270 a0001c0001t0001g0298 others(14): Show |
17 | 336 | 0.0506 | 8 | c.88+ others(25): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41844065 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00621.hp2 others(45): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0005 a0001c0001t0003g0010 a0001c0001t0005g0018 others(45): Show |
48 | 336 | 0.1429 | 8 | c.88+ others(25): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | chr22 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41849940 | C | CATCAGGA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp2 others(144): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(24): Show | a0001c0001t0001g0005 a0001c0001t0001g0070 a0001c0001t0001g0094 others(142): Show |
147 | 336 | 0.4375 | 8 | c.88+ others(25): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41864223 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(28): Show |
a0001a0002a0005 | a0001c0001a0001c0011a0001c0027others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0070 a0001c0001t0001g0190 a0001c0001t0001g0205 others(28): Show |
31 | 336 | 0.0923 | 8 | c.89- others(23): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41864261 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 NA18945.hp1 NA18961.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0004 | a0002c0002t0001g0002 a0002c0002t0001g0131 a0002c0002t0001g0144 others(2): Show |
6 | 336 | 0.0179 | 8 | c.89- others(23): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41869296 | G | GGTTTTAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(161): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0009others(13): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0019others(28): Show | a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0175 others(159): Show |
164 | 336 | 0.4881 | 8 | c.720 others(23): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 3/18 | chr22 | TogoVar | |||||||
SRFBP1_chr5_121956975_122033633 | 121961746 | C | CACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01192.hp2 HG01346.hp1 others(16): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0062 others(16): Show |
19 | 228 | 0.0833 | 8 | c.-28 others(17): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 228 | chr5 | TogoVar | |||||||
SRF_chr6_43166269_43186506 | 43177228 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 7 | 356 | 0.0197 | 8 | c.116 others(25): Show |
SRF | ENSG00000112658.8 | transcript | ENST00000265354.6 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63856252 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02257.hp2 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0012a0001c0007t0133 | a0001c0002t0012g0145 a0001c0007t0133g0103 |
2 | 170 | 0.0118 | 8 | c.67+ others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63900205 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(36): Show | a0001c0001t0003g0098 a0001c0001t0007g0039 a0001c0001t0009g0143 others(37): Show |
40 | 170 | 0.2353 | 8 | c.67+ others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63900209 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG02886.hp2 HG02896.hp1 HG03471.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0010others(2): Show | a0001c0001t0071a0001c0001t0121a0001c0001t0149others(4): Show | a0001c0001t0071g0006 a0001c0001t0121g0108 a0001c0001t0149g0156 others(4): Show |
7 | 170 | 0.0412 | 8 | c.67+ others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63913480 | T | TATATATG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG01069.hp1 others(19): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0003a0001c0001t0072a0001c0001t0095others(19): Show | a0001c0001t0003g0098 a0001c0001t0072g0011 a0001c0001t0095g0010 others(19): Show |
22 | 170 | 0.1294 | 8 | c.67+ others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |