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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SFXN1_chr5_175473560_175534742 | 175507975 | A | AAATAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00597.hp1 others(78): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0009a0001c0002t0002a0001c0002t0003others(14): Show | a0001c0001t0009g0180 a0001c0002t0002g0001 a0001c0002t0002g0008 others(68): Show |
81 | 370 | 0.2189 | 9 | c.165 others(26): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SFXN1_chr5_175473560_175534742 | 175531746 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG01433.hp2 HG01891.hp1 others(12): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0008 | a0001c0001t0005a0001c0001t0018a0001c0002t0002others(4): Show | a0001c0001t0005g0333 a0001c0001t0018g0238 a0001c0001t0018g0312 others(12): Show |
15 | 159 | 0.0943 | 9 | c.*50 others(20): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 2005 | chr5 | TogoVar | |||||||
SFXN4_chr10_119135767_119170714 | 119135791 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01074.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0311 others(9): Show |
15 | 19 | 0.7895 | 9 | c.*54 others(20): Show |
SFXN4 | ENSG00000183605.17 | transcript | ENST00000355697.7 | protein_coding | 4975 | chr10 | TogoVar | |||||||
SGCD_chr5_156322164_156772788 | 156622435 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03471.hp2 HG03490.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0049a0001c0002t0005a0001c0002t0044others(1): Show | a0001c0001t0049g0149 a0001c0002t0005g0082 a0001c0002t0044g0026 others(1): Show |
4 | 19 | 0.2105 | 9 | c.503 others(28): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156691206 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01256.hp1 HG01258.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(11): Show | a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0009g0142 others(12): Show |
15 | 27 | 0.5556 | 9 | c.575 others(28): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SGCZ_chr8_14079845_15243431 | 14301060 | A | AATCATCA others(2): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0058 | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0058g0097 |
3 | 39 | 0.0769 | 9 | c.336 others(28): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 3/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14489866 | C | CATTTTTT others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00738.hp1 others(28): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0011others(27): Show | a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0006g0091 others(28): Show |
31 | 84 | 0.3690 | 9 | c.234 others(28): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14493359 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03195.hp2 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0001c0001t0058a0001c0001t0064others(1): Show | a0001c0001t0020g0025 a0001c0001t0058g0097 a0001c0001t0064g0069 others(1): Show |
4 | 8 | 0.5000 | 9 | c.234 others(28): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14551571 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02055.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0042a0001c0001t0083 | a0001c0001t0042g0040 a0001c0001t0083g0057 |
2 | 87 | 0.0230 | 9 | c.234 others(26): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 2/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14680963 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG01243.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0015a0001c0001t0018others(7): Show | a0001c0001t0014g0024 a0001c0001t0015g0005 a0001c0001t0018g0037 others(7): Show |
10 | 28 | 0.3571 | 9 | c.40- others(28): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14702731 | T | TAGATAGA others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0063a0001c0001t0065 | a0001c0001t0063g0094 a0001c0001t0065g0047 |
2 | 72 | 0.0278 | 9 | c.40- others(28): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14747660 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01109.hp2 HG01257.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0076 a0001c0001t0002g0079 a0001c0001t0003g0019 others(13): Show |
16 | 25 | 0.6400 | 9 | c.40- others(28): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14769793 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0014a0001c0001t0021others(6): Show | a0001c0001t0011g0042 a0001c0001t0014g0024 a0001c0001t0021g0015 others(6): Show |
9 | 37 | 0.2432 | 9 | c.40- others(28): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 14847126 | A | AAAGAAGA others(2): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01978.hp1 HG02004.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0037others(5): Show | a0001c0001t0001g0092 a0001c0001t0017g0011 a0001c0001t0037g0032 others(5): Show |
8 | 18 | 0.4444 | 9 | c.40- others(28): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGCZ_chr8_14079845_15243431 | 15156057 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01257.hp2 HG01258.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(9): Show | a0001c0001t0001g0075 a0001c0001t0001g0092 a0001c0001t0003g0019 others(11): Show |
14 | 48 | 0.2917 | 9 | c.39+ others(26): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
SGF29_chr16_28548920_28596790 | 28594770 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02486.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 a0001c0001t0002g0278 a0001c0001t0002g0283 others(4): Show |
8 | 153 | 0.0523 | 9 | c.*30 others(20): Show |
SGF29 | ENSG00000176476.9 | transcript | ENST00000317058.8 | protein_coding | 2981 | chr16 | TogoVar | |||||||
SGIP1_chr1_66529153_66756139 | 66568362 | A | AGACTTTG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(269): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0004a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0004 a0001c0001t0001g0033 a0001c0001t0001g0067 others(269): Show |
272 | 300 | 0.9067 | 9 | c.10+ others(26): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66660135 | A | AGGAGGGA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01192.hp2 HG01943.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0237 a0001c0001t0002g0036 a0001c0001t0002g0039 others(5): Show |
8 | 246 | 0.0325 | 9 | c.460 others(24): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 7/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66675537 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01257.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0006 | a0001c0001t0001a0001c0001t0010a0001c0014t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0077 a0001c0001t0001g0083 others(10): Show |
13 | 97 | 0.1340 | 9 | c.647 others(26): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 12/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66683700 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0012a0001c0001t0037others(4): Show | a0001c0001t0003g0174 a0001c0001t0012g0035 a0001c0001t0037g0073 others(22): Show |
25 | 78 | 0.3205 | 9 | c.131 others(28): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134273592 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01106.hp2 NA18945.hp1 NA18945.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0001t0001g0201 others(5): Show |
8 | 54 | 0.1481 | 9 | c.70- others(26): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 1/13 | chr6 | TogoVar | |||||||
SGK2_chr20_43554027_43590627 | 43589325 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01981.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0048 a0001c0001t0001g0053 others(9): Show |
12 | 122 | 0.0984 | 9 | c.*43 others(20): Show |
SGK2 | ENSG00000101049.18 | transcript | ENST00000373100.7 | protein_coding | 3699 | chr20 | TogoVar | |||||||
SGK3_chr8_66707781_66867022 | 66720781 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02615.hp2 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0021 a0001c0002t0002g0023 a0001c0002t0002g0139 |
3 | 78 | 0.0385 | 9 | c.-12 others(28): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | chr8 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222422285 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02132.hp2 HG02258.hp2 HG02922.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0086 a0001c0001t0003g0111 a0001c0001t0005g0113 others(4): Show |
7 | 54 | 0.1296 | 9 | c.-23 others(20): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 2257 | chr2 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222532274 | C | CAAAAAAG others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02258.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0013a0001c0004t0020a0001c0004t0051 | a0001c0002t0013g0003 a0001c0002t0013g0004 a0001c0002t0013g0255 others(4): Show |
7 | 270 | 0.0259 | 9 | c.648 others(26): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2341213 | G | GTTCAAGT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG02258.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0025 | a0001c0001t0001a0001c0003t0002a0001c0025t0001 | a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0268 others(2): Show |
5 | 420 | 0.0119 | 9 | c.58- others(24): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SGTB_chr5_65660928_65727109 | 65723814 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG02132.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0078 a0001c0001t0003g0013 a0001c0001t0003g0066 others(3): Show |
7 | 246 | 0.0285 | 9 | c.-19 others(20): Show |
SGTB | ENSG00000197860.10 | transcript | ENST00000381007.9 | protein_coding | 1706 | chr5 | TogoVar | |||||||
SH2D3C_chr9_127733317_127783666 | 127757645 | G | GATTATTA others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00738.hp2 HG01106.hp2 others(10): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0008 | a0001c0002t0001a0002c0003t0001a0002c0008t0001 | a0001c0002t0001g0021 a0001c0002t0001g0029 a0001c0002t0001g0124 others(8): Show |
13 | 47 | 0.2766 | 9 | c.555 others(26): Show |
SH2D3C | ENSG00000095370.20 | transcript | ENST00000314830.13 | protein_coding | 3/11 | chr9 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80549203 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02523.hp1 HG02630.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0028others(2): Show | a0001c0001t0001g0164 a0001c0001t0003g0225 a0001c0001t0028g0168 others(3): Show |
7 | 129 | 0.0543 | 9 | c.184 others(28): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 1/7 | chr10 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80612198 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(155): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0006a0001c0010others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0045 others(153): Show |
158 | 269 | 0.5874 | 9 | c.988 others(26): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | chr10 | TogoVar | |||||||
SH3BP4_chr2_234947017_235060714 | 235036740 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01358.hp2 HG01496.hp1 HG01516.hp1 others(20): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0004a0002c0001others(3): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0019others(8): Show | a0001c0002t0001g0005 a0001c0002t0003g0012 a0001c0002t0003g0033 others(20): Show |
23 | 87 | 0.2644 | 9 | c.118 others(26): Show |
SH3BP4 | ENSG00000130147.16 | transcript | ENST00000392011.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15306054 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(188): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0176 others(187): Show |
191 | 292 | 0.6541 | 9 | c.202 others(26): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151150184 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02970.hp2 HG03486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 a0001c0001t0001g0271 a0001c0001t0001g0272 others(3): Show |
6 | 154 | 0.0390 | 9 | c.175 others(26): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 9/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151222667 | C | CTCTCTCT others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02970.hp2 HG03486.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 others(2): Show |
5 | 262 | 0.0191 | 9 | c.152 others(26): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 2/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151222668 | T | TCTCTCTC others(2): Show |
intron_variant | MODIFIER | HG02155.hp1 NA18984.hp1 NA19091.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0185 |
3 | 263 | 0.0114 | 9 | c.152 others(26): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 2/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151244199 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02615.hp1 HG04115.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0102 a0001c0001t0002g0245 a0001c0005t0001g0168 others(1): Show |
4 | 174 | 0.0230 | 9 | c.113 others(28): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151273589 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02148.hp1 HG02148.hp2 others(7): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0221 a0001c0001t0001g0266 a0001c0002t0001g0249 others(7): Show |
10 | 122 | 0.0820 | 9 | c.113 others(28): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D19_chr4_151115281_151330605 | 151286982 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02615.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0179 a0001c0001t0001g0227 a0001c0001t0002g0085 others(9): Show |
12 | 175 | 0.0686 | 9 | c.112 others(28): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 1/19 | chr4 | TogoVar | |||||||
SH3D21_chr1_36301368_36326347 | 36318898 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02738.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0084 |
3 | 15 | 0.2000 | 9 | c.770 others(24): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GL1_chr19_4355370_4405547 | 4402662 | G | GGCGGCAG others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00544.hp2 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(3): Show | a0001c0001t0001g0008 a0001c0001t0001g0307 a0001c0001t0001g0308 others(51): Show |
60 | 356 | 0.1685 | 9 | c.-23 others(20): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 2116 | chr19 | TogoVar | |||||||
SH3GL2_chr9_17574066_17802124 | 17687513 | A | AATTGTAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02572.hp2 HG02647.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0188 a0001c0001t0001g0203 a0001c0001t0001g0208 others(9): Show |
12 | 256 | 0.0469 | 9 | c.46- others(26): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17758561 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00673.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0033 others(18): Show |
21 | 39 | 0.5385 | 9 | c.115 others(26): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83464988 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG03017.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0149 a0001c0001t0001g0255 a0001c0001t0002g0133 others(1): Show |
4 | 136 | 0.0294 | 9 | c.45+ others(26): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83607840 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG00735.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0001g0063 others(31): Show |
34 | 104 | 0.3269 | 9 | c.839 others(28): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19531524 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 HG01517.hp2 HG01975.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0026 a0001c0001t0001g0031 others(5): Show |
8 | 56 | 0.1429 | 9 | c.*48 others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2452 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19583125 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02071.hp1 HG02602.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 a0001c0001t0001g0154 a0001c0001t0001g0155 others(4): Show |
7 | 19 | 0.3684 | 9 | c.129 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 12/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19776532 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01123.hp1 HG01243.hp1 others(18): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 others(18): Show |
21 | 61 | 0.3443 | 9 | c.163 others(28): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19874068 | A | AAAAATAT others(2): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02630.hp1 HG02897.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0179 a0001c0002t0002g0188 a0001c0002t0002g0189 others(3): Show |
6 | 88 | 0.0682 | 9 | c.4+1 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103646997 | T | TCTTGGGG others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(131): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(82): Show | a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0119 others(131): Show |
134 | 248 | 0.5403 | 9 | c.604 others(28): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 8/14 | chr10 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169197634 | A | AAAAAAGC others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0061 a0001c0001t0003g0062 a0001c0001t0011g0058 others(2): Show |
5 | 214 | 0.0234 | 9 | c.394 others(28): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2/11 | chr4 | TogoVar |