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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRD5A3_chr4_55341242_55378100 | 55360564 | GA | G | intron_variant | MODIFIER | HG02280.hp2 HG03139.hp2 NA19030.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0041a0001c0001t0042a0001c0001t0050others(2): Show | a0001c0001t0041g0082 a0001c0001t0042g0081 a0001c0001t0050g0049 others(2): Show |
5 | 384 | 0.0130 | -1 | c.364 others(9): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SRD5A3_chr4_55341242_55378100 | 55360687 | CG | C | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG02109.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0002c0002t0019a0002c0002t0035 | a0001c0001t0020g0033 a0001c0001t0020g0199 a0002c0002t0019g0034 others(3): Show |
8 | 384 | 0.0208 | -1 | c.364 others(9): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
SRD5A3_chr4_55341242_55378100 | 55361482 | CA | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(124): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(39): Show | a0001c0001t0002g0001 a0001c0001t0002g0041 a0001c0001t0002g0164 others(100): Show |
127 | 384 | 0.3307 | -1 | c.364 others(9): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SRD5A3_chr4_55341242_55378100 | 55362131 | CT | C | intron_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG02015.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(5): Show | a0001c0001t0002g0260 a0001c0001t0003g0005 a0001c0001t0003g0080 others(9): Show |
19 | 384 | 0.0495 | -1 | c.365 others(9): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SRD5A3_chr4_55341242_55378100 | 55362842 | CT | C | intron_variant | MODIFIER | HG01175.hp2 HG01346.hp2 HG01978.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0014 | a0001c0001t0001g0029 a0001c0001t0001g0063 a0001c0001t0001g0064 others(7): Show |
11 | 384 | 0.0287 | -1 | c.365 others(9): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SRD5A3_chr4_55341242_55378100 | 55368376 | CA | C | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02970.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0038a0001c0001t0041 | a0001c0001t0012g0020 a0001c0001t0012g0062 a0001c0001t0012g0077 others(5): Show |
9 | 384 | 0.0234 | -1 | c.697 others(8): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SRD5A3_chr4_55341242_55378100 | 55369730 | CA | C | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02258.hp2 others(23): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(8): Show | a0001c0001t0001g0136 a0001c0001t0001g0142 a0001c0001t0003g0116 others(20): Show |
26 | 384 | 0.0677 | -1 | c.698 others(7): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SRD5A3_chr4_55341242_55378100 | 55372935 | CA | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(203): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(27): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 others(163): Show |
206 | 384 | 0.5365 | -1 | c.*28 others(6): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 5/5 | 2858 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SRD5A3_chr4_55341242_55378100 | 55373178 | GA | G | downstream_gene_variant | MODIFIER | HG01255.hp1 HG01884.hp1 HG02615.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0019a0002c0002t0035 | a0002c0002t0019g0034 a0002c0002t0019g0212 a0002c0002t0019g0214 others(1): Show |
5 | 384 | 0.0130 | -1 | c.*30 others(6): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 79 | chr4 | TogoVar | |||||||
SRD5A3_chr4_55341242_55378100 | 55374410 | CT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(167): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(52): Show | a0001c0001t0001g0135 a0001c0001t0001g0157 a0001c0001t0003g0001 others(138): Show |
170 | 384 | 0.4427 | -1 | c.*43 others(6): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 1311 | chr4 | TogoVar | |||||||
SRD5A3_chr4_55341242_55378100 | 55375915 | GT | G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(257): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(58): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0010 others(201): Show |
260 | 384 | 0.6771 | -1 | c.*58 others(6): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 2816 | chr4 | TogoVar | |||||||
SRD5A3_chr4_55341242_55378100 | 55377452 | CA | C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02486.hp2 HG02886.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0030a0001c0001t0055others(1): Show | a0001c0001t0016g0215 a0001c0001t0016g0216 a0001c0001t0016g0217 others(6): Show |
9 | 384 | 0.0234 | -1 | c.*73 others(6): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 4353 | chr4 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17811403 | GA | G | 3_prime_UTR_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG02258.hp2 others(13): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0003a0007c0009others(1): Show | a0001c0001t0011a0001c0001t0016a0001c0001t0040others(7): Show | a0001c0001t0011g0158 a0001c0001t0011g0171 a0001c0001t0011g0172 others(13): Show |
16 | 352 | 0.0455 | -1 | c.*12 others(6): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 19/19 | 1218 | chr17 | TogoVar | ||||||
SREBF1_chr17_17806334_17841986 | 17811536 | TG | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(231): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0019a0002c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(204): Show |
234 | 352 | 0.6648 | -1 | c.*10 others(6): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 19/19 | 1085 | chr17 | TogoVar | ||||||
SREBF1_chr17_17806334_17841986 | 17820259 | AG | A | frameshift_variant | HIGH | NA18994.hp2 | a0020 | a0020c0027 | a0020c0027t0039 | a0020c0027t0039g0305 | 1 | 352 | 0.0028 | -1 | c.353 others(4): Show |
p.Pro others(5): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 2/19 | 522/4901 | 353/3444 | 118/1147 | chr17 | TogoVar | |||
SREBF1_chr17_17806334_17841986 | 17823730 | CG | C | intron_variant | MODIFIER | HG01070.hp1 HG01192.hp1 HG02486.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0125 a0001c0001t0009g0126 a0001c0001t0009g0127 others(3): Show |
6 | 352 | 0.0171 | -1 | c.92- others(8): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17825603 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(96): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0010a0001c0022others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(21): Show | a0001c0001t0001g0014 a0001c0001t0001g0094 a0001c0001t0001g0100 others(82): Show |
99 | 352 | 0.2813 | -1 | c.92- others(8): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17826282 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(20): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0003a0006c0011others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(11): Show | a0001c0001t0001g0265 a0001c0001t0004g0208 a0001c0001t0008g0083 others(20): Show |
23 | 352 | 0.0653 | -1 | c.92- others(8): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17829206 | AT | A | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01069.hp2 others(18): Show |
a0001a0013a0014 | a0001c0001a0013c0014a0014c0017 | a0001c0001t0001a0001c0001t0003a0001c0001t0045others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0025 others(15): Show |
21 | 352 | 0.0597 | -1 | c.91+ others(8): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17833420 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG01069.hp2 HG01192.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(3): Show | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0109 others(19): Show |
24 | 352 | 0.0682 | -1 | c.91+ others(8): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SREBF1_chr17_17806334_17841986 | 17836850 | GC | G | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(78): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0010a0001c0022others(6): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(16): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0009 others(65): Show |
81 | 352 | 0.2301 | -1 | c.-34 others(4): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/19 | 34 | chr17 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41828208 | TG | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00597.hp2 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0017others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0070 a0001c0001t0001g0094 a0002c0002t0001g0106 others(51): Show |
55 | 336 | 0.1637 | -1 | c.-50 others(6): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 4896 | chr22 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41828703 | TG | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00597.hp2 others(52): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0017others(4): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(6): Show | a0001c0001t0001g0070 a0001c0001t0001g0094 a0002c0002t0001g0106 others(51): Show |
55 | 336 | 0.1637 | -1 | c.-45 others(6): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 4401 | chr22 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41829775 | CT | C | upstream_gene_variant | MODIFIER | NA18950.hp2 NA18959.hp2 NA18965.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0173 others(4): Show |
7 | 336 | 0.0208 | -1 | c.-34 others(6): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 3329 | chr22 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41830884 | CT | C | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01167.hp1 HG01169.hp1 others(39): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0007a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0237 others(39): Show |
42 | 336 | 0.1250 | -1 | c.-23 others(6): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 2220 | chr22 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41831802 | AT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(200): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0007a0001c0011others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0070 a0001c0001t0001g0094 a0001c0001t0001g0253 others(199): Show |
203 | 336 | 0.6042 | -1 | c.-14 others(6): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1302 | chr22 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41835309 | AT | A | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp1 others(46): Show |
a0001a0002a0012others(1): Show | a0001c0001a0002c0002a0002c0005others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0017others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0165 a0001c0001t0001g0166 others(45): Show |
49 | 336 | 0.1458 | -1 | c.88+ others(8): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41837556 | TA | T | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp1 HG02647.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0010 | a0001c0001t0001a0002c0002t0003a0002c0002t0008others(2): Show | a0001c0001t0001g0255 a0002c0002t0003g0008 a0002c0002t0003g0052 others(14): Show |
17 | 336 | 0.0506 | -1 | c.88+ others(8): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41837858 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(73): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0007a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 others(73): Show |
76 | 336 | 0.2262 | -1 | c.88+ others(8): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41838465 | GC | G | intron_variant | MODIFIER | HG01106.hp1 HG01358.hp1 HG01517.hp2 others(3): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 others(3): Show |
6 | 336 | 0.0179 | -1 | c.88+ others(8): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | chr22 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41839956 | CT | C | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02257.hp1 others(23): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0001c0001t0008a0002c0002t0002others(10): Show | a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0008g0112 others(23): Show |
26 | 336 | 0.0774 | -1 | c.88+ others(8): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41842990 | CA | C | intron_variant | MODIFIER | HG01517.hp2 NA18951.hp2 NA18965.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0005 a0001c0001t0001g0317 a0002c0002t0001g0118 others(12): Show |
15 | 336 | 0.0446 | -1 | c.88+ others(8): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41852728 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00639.hp2 others(66): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0170 others(66): Show |
69 | 336 | 0.2054 | -1 | c.89- others(9): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41853603 | GT | G | intron_variant | MODIFIER | HG02257.hp1 HG02622.hp1 HG03453.hp2 |
a0004 | a0004c0004 | a0004c0004t0003a0004c0004t0011 | a0004c0004t0003g0004 a0004c0004t0011g0043 a0004c0004t0011g0051 |
3 | 336 | 0.0089 | -1 | c.89- others(9): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | chr22 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41855019 | TA | T | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02809.hp2 others(4): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0003a0002c0005t0006a0002c0005t0007 | a0002c0002t0003g0052 a0002c0002t0003g0053 a0002c0005t0006g0249 others(4): Show |
7 | 336 | 0.0208 | -1 | c.89- others(9): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41855755 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00621.hp1 others(66): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0005others(7): Show | a0001c0001t0001a0001c0001t0008a0002c0002t0001others(11): Show | a0001c0001t0001g0209 a0001c0001t0001g0232 a0001c0001t0001g0238 others(65): Show |
69 | 336 | 0.2054 | -1 | c.89- others(9): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41859799 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01081.hp1 others(35): Show |
a0002a0003a0005others(3): Show | a0002c0002a0002c0005a0003c0003others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(9): Show | a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0127 others(35): Show |
38 | 336 | 0.1131 | -1 | c.89- others(8): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41860241 | GA | G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00673.hp1 others(38): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0013a0002c0002t0001others(10): Show | a0001c0001t0001g0232 a0001c0001t0013g0220 a0002c0002t0001g0029 others(38): Show |
41 | 336 | 0.1220 | -1 | c.89- others(8): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41864322 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01081.hp1 others(38): Show |
a0002a0003a0005 | a0002c0002a0002c0020a0002c0029others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0020t0004others(4): Show | a0002c0002t0001g0002 a0002c0002t0001g0118 a0002c0002t0001g0120 others(37): Show |
41 | 336 | 0.1220 | -1 | c.89- others(8): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | chr22 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41864323 | AT | A | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG04115.hp2 others(6): Show |
a0002a0003a0006others(1): Show | a0002c0002a0003c0003a0003c0010others(2): Show | a0002c0002t0001a0002c0002t0002a0003c0003t0004others(3): Show | a0002c0002t0001g0142 a0002c0002t0001g0143 a0002c0002t0001g0146 others(6): Show |
9 | 336 | 0.0268 | -1 | c.89- others(8): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41869501 | TG | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(166): Show |
a0002a0003a0004others(6): Show | a0002c0002a0002c0005a0002c0009others(15): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(31): Show | a0002c0002t0001g0002 a0002c0002t0001g0029 a0002c0002t0001g0030 others(164): Show |
169 | 336 | 0.5030 | -1 | c.720 others(8): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41869862 | CT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00673.hp1 others(28): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(8): Show | a0001c0001t0001g0202 a0002c0002t0001g0029 a0002c0002t0001g0030 others(28): Show |
31 | 336 | 0.0923 | -1 | c.721 others(9): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41870628 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(171): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0002c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(31): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0070 others(168): Show |
174 | 336 | 0.5179 | -1 | c.721 others(8): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41872249 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(147): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0009others(12): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(24): Show | a0001c0001t0001g0228 a0002c0002t0001g0002 a0002c0002t0001g0029 others(145): Show |
150 | 336 | 0.4464 | -1 | c.867 others(9): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41873902 | GC | G | frameshift_variant | HIGH | NA18959.hp1 | a0011 | a0011c0016 | a0011c0016t0004 | a0011c0016t0004g0141 | 1 | 336 | 0.0030 | -1 | c.978 others(4): Show |
p.Glu others(5): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 5/19 | 1144/5237 | 978/3426 | 326/1141 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||
SREBF2_chr22_41828105_41912305 | 41887838 | AT | A | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02809.hp2 others(3): Show |
a0002 | a0002c0005 | a0002c0005t0007 | a0002c0005t0007g0012 a0002c0005t0007g0246 a0002c0005t0007g0247 others(3): Show |
6 | 336 | 0.0179 | -1 | c.220 others(10): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41888862 | CT | C | intron_variant | MODIFIER | NA18947.hp2 NA18977.hp2 NA18985.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0200 |
3 | 336 | 0.0089 | -1 | c.220 others(10): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 11/18 | chr22 | TogoVar | |||||||
SREBF2_chr22_41828105_41912305 | 41889701 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0007a0001c0011others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0070 others(234): Show |
239 | 336 | 0.7113 | -1 | c.220 others(10): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREBF2_chr22_41828105_41912305 | 41892647 | CA | C | intron_variant | MODIFIER | HG01261.hp2 HG02451.hp1 HG02486.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0001c0001t0008a0002c0002t0001others(3): Show | a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0259 others(13): Show |
16 | 336 | 0.0476 | -1 | c.220 others(9): Show |
SREBF2 | ENSG00000198911.13 | transcript | ENST00000361204.9 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SREK1IP1_chr5_64713148_64773691 | 64723373 | CG | C | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02145.hp1 others(20): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0008a0001c0003t0010a0001c0003t0013others(4): Show | a0001c0003t0008g0065 a0001c0003t0008g0066 a0001c0003t0008g0067 others(20): Show |
23 | 342 | 0.0673 | -1 | c.*10 others(6): Show |
SREK1IP1 | ENSG00000153006.16 | transcript | ENST00000513458.9 | protein_coding | 5/5 | 1010 | chr5 | TogoVar |