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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH3KBP1_chrX_19528977_19892600 | 19643300 | A | ATTTTT | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0012 | a0001c0002t0002g0187 a0001c0002t0002g0188 a0001c0002t0002g0190 others(1): Show |
4 | 204 | 0.0196 | 5 | c.802 others(22): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19668975 | T | TATATA | intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 204 | 0.0049 | 5 | c.726 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19760023 | C | CTCTCT | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 | 1 | 204 | 0.0049 | 5 | c.163 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19760037 | T | TCTCTC | intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 204 | 0.0049 | 5 | c.163 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19760041 | C | CCCTCT | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 204 | 0.0049 | 5 | c.163 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19760041 | C | CTCTCT | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 204 | 0.0049 | 5 | c.163 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19774654 | A | AAAAAG | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 204 | 0.0049 | 5 | c.163 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19774654 | A | AAGAAG | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 204 | 0.0049 | 5 | c.163 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19774654 | A | AGAAAG | intron_variant | MODIFIER | HG01099.hp1 HG03942.hp1 NA18986.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 a0001c0001t0001g0088 a0001c0001t0001g0125 others(2): Show |
5 | 204 | 0.0245 | 5 | c.163 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19788269 | C | CAAAAA | intron_variant | MODIFIER | HG02293.hp2 HG02622.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0181 others(1): Show |
4 | 204 | 0.0196 | 5 | c.163 others(24): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19826685 | A | AATAAC | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG01256.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0067 others(37): Show |
40 | 204 | 0.1961 | 5 | c.162 others(22): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19856951 | C | CTTTTT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01891.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 others(4): Show |
7 | 204 | 0.0343 | 5 | c.5-2 others(20): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19887601 | G | GAAAAA | upstream_gene_variant | MODIFIER | HG01109.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0059 |
2 | 204 | 0.0098 | 5 | c.-29 others(14): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2 | chrX | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103662341 | C | CGGGGG | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00609.hp2 others(15): Show |
a0001a0007a0009 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0024a0001c0001t0112a0001c0002t0002others(12): Show | a0001c0001t0024g0181 a0001c0001t0112g0245 a0001c0002t0002g0009 others(15): Show |
18 | 250 | 0.0720 | 5 | c.473 others(22): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 7/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103693284 | G | GCCCGC | intron_variant | MODIFIER | HG01243.hp2 HG02895.hp2 HG03098.hp2 others(1): Show |
a0004 | a0004c0011 | a0004c0011t0108a0004c0011t0110a0004c0011t0111others(1): Show | a0004c0011t0108g0222 a0004c0011t0110g0169 a0004c0011t0111g0223 others(1): Show |
4 | 250 | 0.0160 | 5 | c.399 others(20): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 5/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103728881 | T | TTTTTG | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG01261.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0005a0001c0001t0006a0001c0002t0127others(7): Show | a0001c0001t0005g0229 a0001c0001t0006g0171 a0001c0001t0006g0242 others(8): Show |
11 | 250 | 0.0440 | 5 | c.307 others(22): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 4/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103767803 | C | CTGTTT | intron_variant | MODIFIER | HG02647.hp2 HG02723.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0040a0001c0001t0091 | a0001c0001t0005g0149 a0001c0001t0040g0170 a0001c0001t0091g0232 |
3 | 250 | 0.0120 | 5 | c.154 others(20): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103767810 | G | GTTTTT | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG01261.hp1 others(13): Show |
a0001a0003a0011 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0003g0140 a0001c0001t0004g0053 a0001c0001t0006g0171 others(13): Show |
16 | 250 | 0.0640 | 5 | c.154 others(20): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103767812 | T | TTTTTG | intron_variant | MODIFIER | HG02895.hp2 HG02896.hp1 HG02897.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0024a0001c0001t0045a0004c0011t0108others(2): Show | a0001c0001t0024g0227 a0001c0001t0045g0094 a0001c0001t0045g0098 others(3): Show |
6 | 250 | 0.0240 | 5 | c.154 others(20): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103842251 | G | GTTATT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(218): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(132): Show | a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0119 others(217): Show |
221 | 250 | 0.8840 | 5 | c.72+ others(22): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172329079 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01106.hp1 HG01106.hp2 others(7): Show |
a0001a0011 | a0001c0001a0001c0002a0011c0020 | a0001c0001t0001a0001c0001t0007a0001c0001t0087others(3): Show | a0001c0001t0001g0054 a0001c0001t0001g0159 a0001c0001t0007g0121 others(7): Show |
10 | 280 | 0.0357 | 5 | c.*92 others(16): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 4419 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172329081 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00609.hp1 others(52): Show |
a0001a0005a0009 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(12): Show | a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 others(52): Show |
55 | 280 | 0.1964 | 5 | c.*92 others(16): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 4417 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172329083 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG02698.hp2 HG03139.hp1 HG03654.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0132 a0001c0001t0004g0219 a0001c0001t0008g0130 others(6): Show |
9 | 280 | 0.0321 | 5 | c.*92 others(16): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 4415 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172332256 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02735.hp1 HG03579.hp2 others(7): Show |
a0001a0008a0010 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0036a0001c0003t0015a0001c0003t0017others(4): Show | a0001c0001t0036g0013 a0001c0003t0015g0143 a0001c0003t0015g0188 others(7): Show |
10 | 280 | 0.0357 | 5 | c.*61 others(16): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 1242 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172344588 | C | CAAAAA | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG02717.hp1 others(5): Show |
a0001a0002a0007 | a0001c0005a0001c0008a0001c0012others(3): Show | a0001c0005t0016a0001c0005t0081a0001c0008t0005others(4): Show | a0001c0005t0016g0268 a0001c0005t0081g0216 a0001c0008t0005g0195 others(5): Show |
8 | 280 | 0.0286 | 5 | c.118 others(24): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 12/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172366617 | A | ATTTAT | intron_variant | MODIFIER | HG01261.hp1 HG01433.hp1 HG01433.hp2 others(1): Show |
a0001a0006 | a0001c0002a0006c0009 | a0001c0002t0001a0001c0002t0007a0006c0009t0003 | a0001c0002t0001g0067 a0001c0002t0007g0146 a0006c0009t0003g0252 others(1): Show |
4 | 280 | 0.0143 | 5 | c.428 others(22): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172366932 | A | ATTTTT | intron_variant | MODIFIER | HG00609.hp2 HG02273.hp1 HG02698.hp1 others(8): Show |
a0001a0009 | a0001c0001a0009c0017 | a0001c0001t0001a0001c0001t0008a0001c0001t0020others(4): Show | a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0165 others(8): Show |
11 | 280 | 0.0393 | 5 | c.428 others(22): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172369213 | T | TTTTTG | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01943.hp2 others(22): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(16): Show | a0001c0001t0001g0060 a0001c0001t0002g0133 a0001c0001t0002g0134 others(22): Show |
25 | 280 | 0.0893 | 5 | c.427 others(22): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172423544 | T | TTGGGG | intron_variant | MODIFIER | HG02723.hp1 NA20752.hp1 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0080a0001c0019t0061 | a0001c0001t0080g0218 a0001c0019t0061g0160 |
2 | 280 | 0.0071 | 5 | c.76- others(20): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 145961174 | C | CTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02886.hp2 HG02896.hp2 others(3): Show |
a0002a0006a0013 | a0002c0002a0006c0007a0013c0018 | a0002c0002t0001a0006c0007t0001a0013c0018t0001 | a0002c0002t0001g0102 a0006c0007t0001g0093 a0006c0007t0001g0094 others(3): Show |
6 | 272 | 0.0221 | 5 | c.378 others(24): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109143753 | G | GAAACA | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(8): Show | a0001c0001t0001g0025 a0001c0001t0001g0155 a0002c0002t0001g0156 others(17): Show |
20 | 172 | 0.1163 | 5 | c.573 others(24): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109170244 | T | TTTCTC | intron_variant | MODIFIER | HG00099.hp2 HG01099.hp1 HG01258.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0017a0002c0002 | a0001c0001t0001a0001c0017t0006a0002c0002t0001others(1): Show | a0001c0001t0001g0037 a0001c0017t0006g0021 a0002c0002t0001g0158 others(1): Show |
4 | 172 | 0.0233 | 5 | c.573 others(24): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109197336 | A | AGAAGG | intron_variant | MODIFIER | HG02074.hp2 HG03942.hp2 HG04115.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0019a0003c0006others(1): Show | a0001c0001t0005a0001c0019t0004a0003c0006t0030others(1): Show | a0001c0001t0005g0063 a0001c0019t0004g0059 a0003c0006t0030g0061 others(1): Show |
4 | 172 | 0.0233 | 5 | c.573 others(24): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3TC2_chr5_148977150_149068062 | 149021884 | C | CTTTTT | intron_variant | MODIFIER | HG01261.hp1 HG01433.hp1 HG02622.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0042a0001c0001t0046others(5): Show | a0001c0001t0018g0112 a0001c0001t0042g0145 a0001c0001t0046g0239 others(5): Show |
8 | 326 | 0.0245 | 5 | c.305 others(24): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 12/16 | chr5 | TogoVar | |||||||
SH3TC2_chr5_148977150_149068062 | 149057633 | T | TTAGCA | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02886.hp2 others(2): Show |
a0001a0013 | a0001c0002a0001c0022a0001c0033others(1): Show | a0001c0002t0210a0001c0022t0177a0001c0022t0178others(2): Show | a0001c0002t0210g0215 a0001c0022t0177g0218 a0001c0022t0178g0219 others(2): Show |
5 | 326 | 0.0153 | 5 | c.52+ others(20): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50663912 | T | TTTTTC | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02145.hp1 others(6): Show |
a0001a0004 | a0001c0003a0001c0004a0004c0064 | a0001c0003t0010a0001c0003t0023a0001c0003t0025others(5): Show | a0001c0003t0010g0172 a0001c0003t0010g0284 a0001c0003t0023g0078 others(6): Show |
9 | 316 | 0.0285 | 5 | c.576 others(24): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50663940 | C | CTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01192.hp2 HG01257.hp1 others(8): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0002c0009others(5): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0052others(7): Show | a0001c0002t0001g0250 a0001c0002t0006g0236 a0001c0002t0052g0025 others(8): Show |
11 | 316 | 0.0348 | 5 | c.576 others(24): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50665737 | T | TAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(75): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0003a0001c0004others(19): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0007others(54): Show | a0001c0002t0001g0091 a0001c0002t0001g0093 a0001c0002t0001g0096 others(74): Show |
78 | 316 | 0.2468 | 5 | c.576 others(22): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 23/23 | chr19 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50672555 | C | CAAAAA | intron_variant | MODIFIER | HG01192.hp2 HG02559.hp2 HG02647.hp2 others(11): Show |
a0001a0003a0010others(4): Show | a0001c0003a0001c0004a0001c0007others(6): Show | a0001c0003t0004a0001c0003t0007a0001c0003t0008others(11): Show | a0001c0003t0004g0079 a0001c0003t0007g0087 a0001c0003t0008g0231 others(11): Show |
14 | 316 | 0.0443 | 5 | c.257 others(22): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar | |||||||
SHANK1_chr19_50654255_50724802 | 50707876 | T | TTTTTC | intron_variant | MODIFIER | HG00673.hp1 HG00741.hp2 HG01255.hp2 others(1): Show |
a0001a0002a0039 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0003a0001c0003t0036a0002c0001t0019others(1): Show | a0001c0002t0003g0060 a0001c0003t0036g0004 a0002c0001t0019g0165 others(1): Show |
4 | 316 | 0.0127 | 5 | c.107 others(24): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 8/23 | chr19 | TogoVar | |||||||
SHBG_chr17_7625135_7638372 | 7629375 | C | CTAAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(114): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0007t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(9): Show |
117 | 432 | 0.2708 | 5 | c.-79 others(14): Show |
SHBG | ENSG00000129214.15 | transcript | ENST00000380450.9 | protein_coding | 759 | chr17 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 37920275 | A | AAAAAC | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01074.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0044a0001c0002t0003others(7): Show | a0001c0001t0001g0201 a0001c0001t0001g0220 a0001c0001t0001g0232 others(19): Show |
22 | 330 | 0.0667 | 5 | c.134 others(22): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 5/5 | chr9 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 37982973 | G | GCCCCC | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01106.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0065a0001c0003t0002others(6): Show | a0001c0001t0002g0259 a0001c0001t0002g0312 a0001c0001t0002g0314 others(19): Show |
22 | 330 | 0.0667 | 5 | c.839 others(22): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 2/5 | chr9 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89049261 | A | AAAAAC | intron_variant | MODIFIER | HG00323.hp2 HG01515.hp1 HG01517.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0062 a0001c0001t0002g0136 a0001c0001t0005g0026 others(10): Show |
13 | 188 | 0.0692 | 5 | c.963 others(22): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 7/11 | chr9 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89049291 | C | CAAAAT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00639.hp1 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0162 a0001c0001t0001g0163 others(6): Show |
10 | 188 | 0.0532 | 5 | c.963 others(22): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 7/11 | chr9 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89182522 | A | AAAAAT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00735.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0063 a0001c0001t0001g0089 a0001c0001t0001g0114 others(22): Show |
25 | 188 | 0.1330 | 5 | c.-40 others(16): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 3705 | chr9 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182898672 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0094 others(25): Show |
28 | 302 | 0.0927 | 5 | c.*13 others(16): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 1192 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182924675 | A | AGAAAG | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00735.hp2 others(11): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0264 others(11): Show |
14 | 302 | 0.0464 | 5 | c.118 others(24): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182924974 | G | GAAAGA | intron_variant | MODIFIER | HG02109.hp2 HG02970.hp2 HG03130.hp1 others(2): Show |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0001a0003c0006t0001 | a0001c0003t0001g0281 a0001c0003t0001g0283 a0003c0006t0001g0057 others(2): Show |
5 | 302 | 0.0166 | 5 | c.118 others(24): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 6/9 | chr1 | TogoVar | |||||||
SHCBP1L_chr1_182894865_182958166 | 182931943 | A | ATTTTT | intron_variant | MODIFIER | HG00597.hp2 HG01192.hp2 HG01891.hp2 others(20): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(20): Show |
23 | 302 | 0.0762 | 5 | c.107 others(24): Show |
SHCBP1L | ENSG00000157060.16 | transcript | ENST00000367547.8 | protein_coding | 5/9 | chr1 | TogoVar |