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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGK3_chr8_66707781_66867022 | 66711089 | CTGTGTGT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01175.hp1 HG02523.hp1 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0002others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0081 others(4): Show |
7 | 142 | 0.0493 | -8 | c.-18 others(19): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1691 | chr8 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66779561 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 a0001c0002t0002g0063 |
2 | 142 | 0.0141 | -8 | c.-12 others(29): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66839498 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02293.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0081 others(2): Show |
5 | 142 | 0.0352 | -8 | c.742 others(23): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66845693 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG01978.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0008others(2): Show | a0001c0002t0002g0003 a0001c0002t0002g0004 a0001c0002t0002g0029 others(12): Show |
15 | 142 | 0.1056 | -8 | c.107 others(27): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66857791 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG03139.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 a0001c0002t0002g0004 |
2 | 142 | 0.0141 | -8 | c.132 others(27): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGK3_chr8_66707781_66867022 | 66857799 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02559.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0006 | a0001c0002t0002g0009 a0001c0002t0002g0024 a0001c0002t0003g0013 others(8): Show |
11 | 142 | 0.0775 | -8 | c.132 others(27): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGMS1_chr10_50300600_50628956 | 50400396 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp2 HG01943.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0014 a0001c0001t0001g0040 a0001c0001t0001g0042 others(22): Show |
25 | 312 | 0.0801 | -8 | c.-23 others(29): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50429734 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00738.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0069 others(32): Show |
35 | 312 | 0.1122 | -8 | c.-23 others(27): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50453837 | AGGAGGGA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00738.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0060 a0001c0001t0001g0111 others(23): Show |
26 | 312 | 0.0833 | -8 | c.-31 others(27): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50487985 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG01074.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0096 a0001c0001t0001g0120 others(35): Show |
38 | 312 | 0.1218 | -8 | c.-49 others(29): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50532225 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02602.hp2 HG03453.hp2 HG03492.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0295 a0001c0001t0003g0235 a0001c0002t0001g0138 |
3 | 312 | 0.0096 | -8 | c.-58 others(29): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50587633 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG03471.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0002 a0001c0002t0006g0003 a0001c0002t0006g0004 others(1): Show |
4 | 312 | 0.0128 | -8 | c.-58 others(27): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGMS2_chr4_107819932_107920047 | 107861534 | TATTTCTT others(1): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0007 a0001c0001t0008g0224 |
3 | 270 | 0.0111 | -8 | c.-24 others(27): Show |
SGMS2 | ENSG00000164023.15 | transcript | ENST00000690982.1 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
SGMS2_chr4_107819932_107920047 | 107886364 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG01175.hp1 HG01243.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(17): Show |
20 | 270 | 0.0741 | -8 | c.-24 others(27): Show |
SGMS2 | ENSG00000164023.15 | transcript | ENST00000690982.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SGO2_chr2_200521207_200589096 | 200522317 | ATTCTTTC others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01169.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0006 | a0001c0001t0001a0001c0011t0001a0003c0006t0001others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0192 a0001c0011t0001g0230 others(11): Show |
15 | 384 | 0.0391 | -8 | c.-39 others(19): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 3889 | chr2 | TogoVar | |||||||
SGO2_chr2_200521207_200589096 | 200544692 | GATCTATC others(1): Show |
G | intron_variant | MODIFIER | HG03710.hp1 NA18955.hp1 NA19086.hp2 |
a0001a0006 | a0001c0001a0001c0003a0006c0009 | a0001c0001t0001a0001c0003t0002a0006c0009t0002 | a0001c0001t0001g0199 a0001c0003t0002g0105 a0006c0009t0002g0138 |
3 | 384 | 0.0078 | -8 | c.473 others(25): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGPL1_chr10_70810948_70886184 | 70852697 | CATGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG02735.hp1 HG03239.hp1 HG03490.hp2 |
a0001 | a0001c0003 | a0001c0003t0031a0001c0003t0047 | a0001c0003t0031g0041 a0001c0003t0047g0217 |
3 | 402 | 0.0075 | -8 | c.261 others(25): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SGPL1_chr10_70810948_70886184 | 70859842 | TTAGATTC others(1): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02738.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0306 a0001c0001t0014g0307 a0001c0001t0014g0308 |
3 | 402 | 0.0075 | -8 | c.615 others(23): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 7/14 | chr10 | TogoVar | |||||||
SGPL1_chr10_70810948_70886184 | 70859854 | AATGTAAA others(1): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02738.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0306 a0001c0001t0014g0307 a0001c0001t0014g0308 |
3 | 402 | 0.0075 | -8 | c.615 others(23): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SGPL1_chr10_70810948_70886184 | 70867781 | TTCACTTA others(1): Show |
T | intron_variant | MODIFIER | HG01168.hp1 HG01175.hp1 HG01192.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0019 | a0001c0006t0019g0053 a0001c0006t0019g0054 a0001c0006t0019g0055 others(1): Show |
4 | 402 | 0.0100 | -8 | c.616 others(23): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 7/14 | chr10 | TogoVar | |||||||
SGPP1_chr14_63679216_63733065 | 63718977 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02723.hp2 HG03130.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0006a0002c0005t0002 | a0001c0001t0001g0072 a0001c0001t0001g0224 a0001c0001t0001g0235 others(3): Show |
6 | 288 | 0.0208 | -8 | c.684 others(25): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222420210 | TGTCATCT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00639.hp1 others(134): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0038 others(134): Show |
137 | 272 | 0.5037 | -8 | c.-43 others(19): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 4332 | chr2 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222434975 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(123): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0027 others(123): Show |
126 | 272 | 0.4632 | -8 | c.219 others(27): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222478171 | CGAGAGGG others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp1 HG02717.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0017a0001c0001t0020a0001c0002t0009others(4): Show | a0001c0001t0017g0188 a0001c0001t0020g0110 a0001c0001t0020g0208 others(6): Show |
9 | 272 | 0.0331 | -8 | c.378 others(25): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222565901 | ATATATAT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01109.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016 | a0001c0001t0001g0040 a0001c0001t0003g0039 a0001c0001t0016g0015 |
3 | 272 | 0.0110 | -8 | c.*70 others(19): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 3281 | chr2 | TogoVar | |||||||
SGSM1_chr22_24801211_24932578 | 24845941 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00741.hp1 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0023 a0001c0001t0001g0150 a0001c0001t0001g0194 others(37): Show |
40 | 338 | 0.1183 | -8 | c.139 others(25): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24851449 | GGAGAGAG others(1): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01952.hp1 HG02027.hp1 others(12): Show |
a0001a0002 | a0001c0004a0001c0006a0001c0014others(2): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0004others(8): Show | a0001c0004t0001g0330 a0001c0004t0002g0111 a0001c0004t0002g0118 others(12): Show |
15 | 338 | 0.0444 | -8 | c.455 others(25): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24853769 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02622.hp2 others(5): Show |
a0001a0003a0009 | a0001c0007a0003c0031a0003c0035others(1): Show | a0001c0007t0001a0001c0007t0015a0001c0007t0045others(3): Show | a0001c0007t0001g0323 a0001c0007t0001g0324 a0001c0007t0001g0338 others(5): Show |
8 | 338 | 0.0237 | -8 | c.456 others(25): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24887107 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02145.hp1 others(7): Show |
a0001a0003 | a0001c0006a0001c0007a0001c0029others(2): Show | a0001c0006t0001a0001c0007t0001a0001c0007t0045others(4): Show | a0001c0006t0001g0069 a0001c0007t0001g0323 a0001c0007t0001g0324 others(7): Show |
10 | 338 | 0.0296 | -8 | c.177 others(25): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24900340 | CTTCTTTC others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01099.hp1 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0020 a0001c0001t0001g0057 a0001c0001t0001g0102 others(32): Show |
35 | 338 | 0.1036 | -8 | c.261 others(27): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 19/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24907259 | TCAAATAA others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02970.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0010others(3): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0020others(4): Show | a0001c0001t0001g0315 a0003c0003t0001g0306 a0003c0003t0020g0071 others(5): Show |
8 | 338 | 0.0237 | -8 | c.281 others(27): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 21/24 | chr22 | TogoVar | |||||||
SGSM1_chr22_24801211_24932578 | 24907260 | CAAATAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(63): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0001c0014others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0028 a0001c0001t0001g0053 a0001c0001t0001g0140 others(63): Show |
66 | 338 | 0.1953 | -8 | c.281 others(27): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24928903 | CAATAAAT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp1 HG03041.hp2 HG06807.hp1 |
a0001 | a0001c0005a0001c0007 | a0001c0005t0015a0001c0007t0015a0001c0007t0045 | a0001c0005t0015g0120 a0001c0007t0015g0074 a0001c0007t0045g0178 |
3 | 338 | 0.0089 | -8 | c.*46 others(19): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 1326 | chr22 | TogoVar | |||||||
SGSM3_chr22_40365594_40415289 | 40413018 | TCCCAGCT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01934.hp2 NA20129.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0201 a0001c0001t0001g0237 |
3 | 292 | 0.0103 | -8 | c.*32 others(19): Show |
SGSM3 | ENSG00000100359.21 | transcript | ENST00000248929.14 | protein_coding | 2730 | chr22 | TogoVar | |||||||
SGTA_chr19_2749715_2788273 | 2784758 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02486.hp2 others(6): Show |
a0001 | a0001c0004a0001c0006a0001c0009 | a0001c0004t0003a0001c0006t0004a0001c0009t0010 | a0001c0004t0003g0145 a0001c0006t0004g0182 a0001c0006t0004g0183 others(6): Show |
9 | 396 | 0.0227 | -8 | c.-15 others(19): Show |
SGTA | ENSG00000104969.11 | transcript | ENST00000221566.7 | protein_coding | 1486 | chr19 | TogoVar | |||||||
SH2B2_chr7_102281868_102326711 | 102301559 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02922.hp2 HG03098.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0002 | a0001c0001t0002g0389 a0001c0001t0002g0390 a0001c0001t0002g0391 others(2): Show |
5 | 406 | 0.0123 | -8 | c.729 others(23): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SH2B2_chr7_102281868_102326711 | 102322686 | CCCTTCCT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02723.hp2 others(7): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0249 a0001c0001t0001g0257 a0001c0001t0001g0337 others(7): Show |
10 | 406 | 0.0246 | -8 | c.*10 others(19): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 976 | chr7 | TogoVar | |||||||
SH2B3_chr12_111400923_111456623 | 111427388 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(69): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0005a0004c0004others(2): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(7): Show | a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0007 others(58): Show |
72 | 326 | 0.2209 | -8 | c.732 others(25): Show |
SH2B3 | ENSG00000111252.11 | transcript | ENST00000341259.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124350702 | ATAATATA others(1): Show |
A | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 318 | 0.0031 | -8 | c.137 others(25): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124365804 | ACAGGTTC others(1): Show |
A | frameshift_variant | HIGH | HG01517.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0094 | 1 | 318 | 0.0031 | -8 | c.182 others(15): Show |
p.Thr others(4): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2/4 | 262/2236 | 182/387 | 61/128 | chrX | TogoVar | |||
SH2D1A_chrX_124341563_124378160 | 124366876 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02615.hp1 HG02886.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 others(11): Show |
14 | 318 | 0.0440 | -8 | c.201 others(25): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124375142 | ACTCTCTC others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0086 a0001c0001t0004g0001 |
3 | 318 | 0.0094 | -8 | c.*37 others(19): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 1983 | chrX | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124375171 | CTCTCTCT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0039 |
2 | 318 | 0.0063 | -8 | c.*37 others(19): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2012 | chrX | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124375173 | CTCTCTAT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 318 | 0.0031 | -8 | c.*37 others(19): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2014 | chrX | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162392171 | AAAGGAAG others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp2 HG00639.hp1 others(31): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0257 a0001c0001t0003g0013 a0001c0001t0003g0014 others(26): Show |
34 | 424 | 0.0802 | -8 | c.*51 others(19): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 3096 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162392527 | CTCATTCA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01496.hp2 HG01516.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0001g0045 others(13): Show |
23 | 424 | 0.0543 | -8 | c.*47 others(19): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 2740 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162403509 | AAAATATA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG02280.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0001g0045 a0001c0001t0001g0198 others(5): Show |
12 | 424 | 0.0283 | -8 | c.135 others(23): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162403701 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG02015.hp2 HG02132.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(2): Show | a0001c0001t0001g0201 a0001c0001t0001g0267 a0001c0001t0001g0268 others(5): Show |
8 | 424 | 0.0189 | -8 | c.135 others(23): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
SH2D3A_chr19_6747160_6772435 | 6771788 | AAAGAAAG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01515.hp1 HG02148.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0013 a0001c0001t0001g0054 a0002c0003t0001g0011 others(3): Show |
10 | 380 | 0.0263 | -8 | c.-44 others(19): Show |
SH2D3A | ENSG00000125731.13 | transcript | ENST00000245908.11 | protein_coding | 4354 | chr19 | TogoVar | |||||||
SH2D3A_chr19_6747160_6772435 | 6771792 | AAAGGAAG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01891.hp2 HG01934.hp1 HG02055.hp2 others(18): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0009t0002others(4): Show | a0001c0001t0001g0032 a0001c0001t0001g0120 a0001c0002t0002g0084 others(14): Show |
21 | 380 | 0.0553 | -8 | c.-44 others(19): Show |
SH2D3A | ENSG00000125731.13 | transcript | ENST00000245908.11 | protein_coding | 4358 | chr19 | TogoVar |