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 | 19872270 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 204 | 0.0049 | -8 | c.4+1 others(23): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19878505 | TGAGAGAG others(1): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 others(2): Show |
5 | 204 | 0.0245 | -8 | c.4+8 others(21): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19887601 | GAAAAAAA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01106.hp1 HG02258.hp1 NA18989.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0020 a0001c0003t0001g0051 a0002c0004t0001g0143 |
3 | 204 | 0.0147 | -8 | c.-29 others(17): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2 | chrX | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103615483 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02083.hp1 HG02895.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0011 | a0001c0001t0092a0001c0002t0115a0004c0011t0110others(1): Show | a0001c0001t0092g0096 a0001c0002t0115g0134 a0004c0011t0110g0169 others(1): Show |
4 | 250 | 0.0160 | -8 | c.920 others(25): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 11/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103718760 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01358.hp2 HG02559.hp1 HG03130.hp2 others(4): Show |
a0001 | a0001c0002a0001c0008a0001c0009 | a0001c0002t0002a0001c0002t0047a0001c0008t0027others(3): Show | a0001c0002t0002g0018 a0001c0002t0047g0237 a0001c0008t0027g0215 others(4): Show |
7 | 250 | 0.0280 | -8 | c.398 others(25): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 5/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103753317 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01106.hp2 others(7): Show |
a0001a0011 | a0001c0002a0001c0003a0001c0005others(2): Show | a0001c0002t0019a0001c0002t0025a0001c0003t0035others(4): Show | a0001c0002t0019g0020 a0001c0002t0019g0063 a0001c0002t0025g0001 others(6): Show |
10 | 250 | 0.0400 | -8 | c.229 others(27): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 3/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103769134 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG02055.hp1 HG02258.hp1 others(20): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0021others(16): Show | a0001c0001t0005g0218 a0001c0001t0005g0224 a0001c0001t0005g0226 others(20): Show |
23 | 250 | 0.0920 | -8 | c.154 others(25): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103771738 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02559.hp1 HG03130.hp2 others(2): Show |
a0001a0004 | a0001c0009a0004c0011 | a0001c0009t0039a0001c0009t0089a0001c0009t0090others(1): Show | a0001c0009t0039g0112 a0001c0009t0039g0113 a0001c0009t0089g0219 others(2): Show |
5 | 250 | 0.0200 | -8 | c.154 others(25): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103773783 | GGCTGGAG others(1): Show |
G | intron_variant | MODIFIER | HG02818.hp2 HG02922.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0041 | a0001c0001t0022g0100 a0001c0001t0022g0110 a0001c0001t0041g0239 |
3 | 250 | 0.0120 | -8 | c.154 others(25): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103795924 | AAGGAAGG others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(34): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(26): Show | a0001c0001t0004g0083 a0001c0001t0005g0187 a0001c0001t0005g0218 others(34): Show |
37 | 250 | 0.1480 | -8 | c.153 others(25): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 2/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103847946 | AAAAAAAC others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(216): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(130): Show | a0001c0001t0003g0102 a0001c0001t0003g0105 a0001c0001t0003g0119 others(215): Show |
219 | 250 | 0.8760 | -8 | c.72+ others(23): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 1/14 | chr10 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172331032 | TAAAAATA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG02717.hp1 others(3): Show |
a0001a0004 | a0001c0005a0001c0012a0004c0006 | a0001c0005t0081a0001c0012t0023a0004c0006t0013 | a0001c0005t0081g0216 a0001c0012t0023g0046 a0001c0012t0023g0047 others(3): Show |
6 | 280 | 0.0214 | -8 | c.*73 others(19): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 2466 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172348618 | CTATCTAT others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02280.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0045a0001c0001t0068others(7): Show | a0001c0001t0002g0199 a0001c0001t0045g0201 a0001c0001t0068g0019 others(13): Show |
17 | 280 | 0.0607 | -8 | c.101 others(27): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 10/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172348630 | CTATCTAT others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0002t0069 | a0001c0001t0021g0191 a0001c0001t0021g0192 a0001c0002t0069g0189 |
3 | 280 | 0.0107 | -8 | c.101 others(27): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 10/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172348654 | CCTATCTA others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG01169.hp2 HG01192.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0003g0231 others(14): Show |
17 | 280 | 0.0607 | -8 | c.101 others(27): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 10/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172348703 | CTATCTAT others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01123.hp1 HG01255.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0044a0001c0002t0069 | a0001c0001t0001g0157 a0001c0002t0044g0187 a0001c0002t0069g0189 |
3 | 280 | 0.0107 | -8 | c.101 others(27): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 10/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172366946 | TTTTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp2 HG02622.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0006a0001c0002t0001a0001c0002t0006others(3): Show | a0001c0001t0006g0206 a0001c0002t0001g0031 a0001c0002t0006g0001 others(8): Show |
12 | 280 | 0.0429 | -8 | c.428 others(25): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172368588 | AAAATATG others(1): Show |
A | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03453.hp2 |
a0004 | a0004c0006 | a0004c0006t0013 | a0004c0006t0013g0018 a0004c0006t0013g0029 a0004c0006t0013g0030 |
3 | 280 | 0.0107 | -8 | c.427 others(25): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 6/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172390815 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02451.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0007 | a0001c0001t0006a0001c0001t0045a0002c0004t0029others(2): Show | a0001c0001t0006g0027 a0001c0001t0045g0201 a0002c0004t0029g0002 others(4): Show |
7 | 280 | 0.0250 | -8 | c.309 others(25): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 4/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172439690 | GCGCACAC others(1): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp2 HG02717.hp1 others(6): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0012others(1): Show | a0001c0001t0011a0001c0001t0021a0001c0003t0005others(3): Show | a0001c0001t0011g0266 a0001c0001t0021g0191 a0001c0001t0021g0192 others(6): Show |
9 | 280 | 0.0321 | -8 | c.75+ others(25): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
SH3PXD2B_chr5_172328499_172459525 | 172439692 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02622.hp1 HG02630.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0006a0001c0002t0001a0001c0002t0006others(5): Show | a0001c0001t0006g0033 a0001c0002t0001g0031 a0001c0002t0006g0001 others(10): Show |
14 | 280 | 0.0500 | -8 | c.75+ others(25): Show |
SH3PXD2B | ENSG00000174705.13 | transcript | ENST00000311601.6 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169187516 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG00735.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(10): Show | a0001c0001t0001g0013 a0001c0001t0001g0061 a0001c0001t0001g0164 others(19): Show |
22 | 216 | 0.1019 | -8 | c.394 others(27): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
SH3RF1_chr4_169089259_169275956 | 169255622 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02886.hp1 HG04204.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0030a0001c0002t0029 | a0001c0001t0001g0065 a0001c0001t0030g0214 a0001c0002t0029g0215 |
3 | 216 | 0.0139 | -8 | c.393 others(27): Show |
SH3RF1 | ENSG00000154447.15 | transcript | ENST00000284637.14 | protein_coding | 2/11 | chr4 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 145961174 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01167.hp2 others(9): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0010a0001c0011others(3): Show | a0001c0001t0001a0001c0010t0001a0001c0010t0002others(4): Show | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0010t0001g0041 others(9): Show |
12 | 272 | 0.0441 | -8 | c.378 others(27): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 145963243 | AATGGATG others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG03579.hp2 NA18906.hp2 |
a0002a0005a0007 | a0002c0002a0005c0004a0007c0009 | a0002c0002t0001a0005c0004t0001a0007c0009t0001 | a0002c0002t0001g0195 a0005c0004t0001g0079 a0007c0009t0001g0248 |
3 | 272 | 0.0110 | -8 | c.378 others(27): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 145963282 | GGATGGAT others(1): Show |
G | intron_variant | MODIFIER | HG03098.hp1 HG03486.hp1 HG03540.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0254 others(1): Show |
4 | 272 | 0.0147 | -8 | c.378 others(27): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146002469 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00735.hp2 HG01069.hp1 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0010others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(9): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0263 others(37): Show |
40 | 272 | 0.1471 | -8 | c.649 others(25): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146016354 | AGATGGAT others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01167.hp2 others(10): Show |
a0001a0004a0007 | a0001c0001a0004c0006a0007c0009 | a0001c0001t0001a0001c0001t0002a0004c0006t0001others(1): Show | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0252 others(10): Show |
13 | 272 | 0.0478 | -8 | c.105 others(27): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146022874 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(65): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0014a0001c0016others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0014t0002others(7): Show | a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0002g0014 others(65): Show |
68 | 272 | 0.2500 | -8 | c.105 others(27): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SH3RF2_chr5_145931578_146068292 | 146064586 | GGAGAGAG others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(68): Show |
a0001a0004a0011others(2): Show | a0001c0001a0001c0014a0001c0016others(4): Show | a0001c0001t0002a0001c0014t0002a0001c0016t0002others(4): Show | a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 others(68): Show |
71 | 272 | 0.2610 | -8 | c.*18 others(19): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1295 | chr5 | TogoVar | |||||||
SH3RF2_chr5_145931578_146068292 | 146064644 | AAGAAAGA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00673.hp1 others(17): Show |
a0002a0003a0008others(1): Show | a0002c0002a0003c0003a0008c0026others(1): Show | a0002c0002t0001a0003c0003t0001a0008c0026t0001others(1): Show | a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0047 others(17): Show |
20 | 272 | 0.0735 | -8 | c.*19 others(19): Show |
SH3RF2 | ENSG00000156463.18 | transcript | ENST00000359120.9 | protein_coding | 1353 | chr5 | TogoVar | |||||||
SH3RF3_chr2_109124205_109509634 | 109238449 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01981.hp2 HG02080.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0036 a0001c0001t0002g0113 a0001c0001t0003g0112 others(12): Show |
15 | 172 | 0.0872 | -8 | c.573 others(29): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109325311 | ATTTCTTT others(1): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0134 a0001c0001t0007g0140 a0001c0001t0007g0142 others(1): Show |
4 | 172 | 0.0233 | -8 | c.574 others(27): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3RF3_chr2_109124205_109509634 | 109370221 | GTCTCTGT others(1): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG02451.hp1 HG02809.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0005a0001c0001t0012a0001c0001t0024others(6): Show | a0001c0001t0005g0042 a0001c0001t0012g0148 a0001c0001t0024g0141 others(8): Show |
11 | 172 | 0.0640 | -8 | c.850 others(25): Show |
SH3RF3 | ENSG00000172985.11 | transcript | ENST00000309415.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8229504 | TGTGAGCG others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02717.hp2 |
a0002a0027 | a0002c0015a0027c0072 | a0002c0015t0001a0027c0072t0003 | a0002c0015t0001g0276 a0002c0015t0001g0317 a0027c0072t0003g0022 |
3 | 374 | 0.0080 | -8 | c.295 others(25): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8234486 | TCCATCCA others(1): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG01891.hp2 HG02559.hp2 others(7): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0001c0044others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0044t0001others(2): Show | a0001c0001t0001g0275 a0001c0001t0001g0312 a0001c0001t0001g0313 others(7): Show |
10 | 374 | 0.0267 | -8 | c.328 others(25): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SH3TC2_chr5_148977150_149068062 | 148987809 | CTGTGTGT others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02818.hp2 HG02896.hp2 others(4): Show |
a0001 | a0001c0001a0001c0007a0001c0012 | a0001c0001t0095a0001c0001t0163a0001c0007t0027others(2): Show | a0001c0001t0095g0190 a0001c0001t0163g0037 a0001c0007t0027g0211 others(4): Show |
7 | 326 | 0.0215 | -8 | c.*16 others(21): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 17/17 | 16894 | chr5 | TogoVar | ||||||
SH3TC2_chr5_148977150_149068062 | 148994600 | ATGGTTGG others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00558.hp2 others(121): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(16): Show | a0001c0001t0019a0001c0001t0037a0001c0001t0050others(82): Show | a0001c0001t0019g0139 a0001c0001t0019g0209 a0001c0001t0037g0119 others(104): Show |
124 | 326 | 0.3804 | -8 | c.*10 others(21): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 17/17 | 10103 | chr5 | TogoVar | ||||||
SH3TC2_chr5_148977150_149068062 | 148994697 | AGGATGGA others(1): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01975.hp1 others(32): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0003a0003c0010others(1): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0008others(13): Show | a0001c0002t0003g0002 a0001c0002t0003g0007 a0001c0002t0003g0053 others(23): Show |
35 | 326 | 0.1074 | -8 | c.*10 others(21): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 17/17 | 10006 | chr5 | TogoVar | ||||||
SHANK1_chr19_50654255_50724802 | 50694019 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG02071.hp2 HG04199.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0007a0001c0014others(3): Show | a0001c0002t0095a0001c0007t0012a0001c0014t0008others(3): Show | a0001c0002t0095g0070 a0001c0007t0012g0077 a0001c0014t0008g0230 others(3): Show |
6 | 316 | 0.0190 | -8 | c.196 others(27): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 15/23 | chr19 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 38071347 | TGTGTGAG others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02717.hp2 HG02965.hp2 HG03195.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0034 | a0001c0002t0003g0072 a0001c0002t0003g0173 a0001c0003t0034g0015 |
3 | 330 | 0.0091 | -8 | c.-27 others(19): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 2121 | chr9 | TogoVar | |||||||
SHB_chr9_37910898_38074227 | 38071351 | TGAGAGAG others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00673.hp2 HG01261.hp1 HG02622.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0015 | a0001c0001t0002a0001c0001t0018a0001c0003t0002others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0288 a0001c0001t0018g0246 others(6): Show |
9 | 330 | 0.0273 | -8 | c.-27 others(19): Show |
SHB | ENSG00000107338.10 | transcript | ENST00000377707.4 | protein_coding | 2125 | chr9 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 442475 | GTGGGTGG others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG01071.hp2 others(27): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0145 a0001c0001t0002g0079 a0001c0001t0003g0004 others(25): Show |
30 | 212 | 0.1415 | -8 | c.469 others(25): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | |||||||
SHC2_chr19_411589_466033 | 448997 | AAAAAATA others(1): Show |
A | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02572.hp2 others(9): Show |
a0001a0005a0009 | a0001c0001a0005c0009a0009c0021 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0002g0039 a0001c0001t0002g0052 a0001c0001t0002g0057 others(9): Show |
12 | 212 | 0.0566 | -8 | c.469 others(25): Show |
SHC2 | ENSG00000129946.11 | transcript | ENST00000264554.11 | protein_coding | 1/12 | chr19 | TogoVar | |||||||
SHC3_chr9_89000771_89183818 | 89097106 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01167.hp2 HG01496.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0099 a0001c0001t0001g0153 a0001c0001t0002g0103 others(3): Show |
6 | 188 | 0.0319 | -8 | c.545 others(27): Show |
SHC3 | ENSG00000148082.10 | transcript | ENST00000375835.9 | protein_coding | 2/11 | chr9 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48880985 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00642.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0004 a0001c0001t0001g0050 a0001c0001t0001g0076 others(17): Show |
21 | 384 | 0.0547 | -8 | c.840 others(25): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 4/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48916271 | GCTCACAC others(1): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG03139.hp2 NA19002.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0045 a0001c0001t0001g0087 a0001c0001t0001g0161 others(2): Show |
5 | 384 | 0.0130 | -8 | c.656 others(25): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48916273 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00438.hp1 others(86): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0042 a0001c0001t0001g0070 others(85): Show |
89 | 384 | 0.2318 | -8 | c.656 others(25): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48917243 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp2 HG01496.hp2 others(42): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0069 others(42): Show |
45 | 384 | 0.1172 | -8 | c.656 others(25): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 2/11 | chr15 | TogoVar | |||||||
SHC4_chr15_48818741_48968919 | 48937583 | CATAGATA others(1): Show |
C | intron_variant | MODIFIER | HG01071.hp1 HG01175.hp1 HG01257.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0050 a0001c0001t0001g0191 others(8): Show |
12 | 384 | 0.0313 | -8 | c.586 others(27): Show |
SHC4 | ENSG00000185634.12 | transcript | ENST00000332408.9 | protein_coding | 1/11 | chr15 | TogoVar |