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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SH2D1B_chr1_162390268_162417136 | 162392171 | A | AAAGGAAG others(13): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0259 |
2 | 424 | 0.0047 | 20 | c.*51 others(31): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 3096 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162400286 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18943.hp1 NA19078.hp2 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0123 |
3 | 424 | 0.0071 | 20 | c.199 others(37): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162416268 | A | AAAGGAAG others(13): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG01515.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001a0002c0002t0023 | a0001c0001t0005g0155 a0001c0001t0005g0161 a0002c0002t0001g0006 others(1): Show |
5 | 424 | 0.0118 | 20 | c.-42 others(31): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 4133 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162416312 | G | GAAGGAAG others(13): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 2 | 424 | 0.0047 | 20 | c.-42 others(31): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 4177 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162416424 | A | AAAAGAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0005 a0001c0001t0019g0149 |
2 | 424 | 0.0047 | 20 | c.-44 others(31): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 4289 | chr1 | TogoVar | |||||||
SH2D1B_chr1_162390268_162417136 | 162416424 | A | AAGAAAAA others(13): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01069.hp1 others(25): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0001c0001t0016a0001c0001t0017others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0016 others(15): Show |
28 | 424 | 0.0660 | 20 | c.-44 others(31): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 4289 | chr1 | TogoVar | |||||||
SH2D2A_chr1_156801243_156821848 | 156817044 | C | CCTCTCTC others(13): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 410 | 0.0024 | 20 | c.-33 others(29): Show |
SH2D2A | ENSG00000027869.12 | transcript | ENST00000368199.8 | protein_coding | 197 | chr1 | TogoVar | |||||||
SH2D2A_chr1_156801243_156821848 | 156817047 | T | TTCTCTCT others(13): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp2 others(50): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0007others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0007t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(15): Show |
53 | 410 | 0.1293 | 20 | c.-35 others(29): Show |
SH2D2A | ENSG00000027869.12 | transcript | ENST00000368199.8 | protein_coding | 200 | chr1 | TogoVar | |||||||
SH2D4A_chr8_19308693_19401218 | 19373455 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02886.hp2 HG02970.hp1 others(4): Show |
a0001a0002a0007others(1): Show | a0001c0007a0002c0004a0002c0005others(3): Show | a0001c0007t0005a0002c0004t0003a0002c0005t0024others(3): Show | a0001c0007t0005g0088 a0002c0004t0003g0264 a0002c0005t0024g0051 others(4): Show |
7 | 354 | 0.0198 | 20 | c.918 others(33): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80572986 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 322 | 0.0031 | 20 | c.495 others(37): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80600520 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0123 | 1 | 322 | 0.0031 | 20 | c.644 others(37): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 4/7 | chr10 | TogoVar | |||||||
SH3BGRL2_chr6_79626329_79708655 | 79648255 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01978.hp2 HG01993.hp1 HG02486.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0133 a0001c0001t0003g0245 a0001c0001t0003g0246 others(5): Show |
8 | 348 | 0.0230 | 20 | c.45+ others(37): Show |
SH3BGRL2 | ENSG00000198478.8 | transcript | ENST00000369838.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SH3BGRL2_chr6_79626329_79708655 | 79648279 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 348 | 0.0029 | 20 | c.45+ others(37): Show |
SH3BGRL2 | ENSG00000198478.8 | transcript | ENST00000369838.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SH3BGR_chr21_39446970_39520504 | 39499255 | C | CATCTATC others(13): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01243.hp1 HG01975.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0047 a0001c0001t0001g0068 others(4): Show |
7 | 302 | 0.0232 | 20 | c.313 others(35): Show |
SH3BGR | ENSG00000185437.16 | transcript | ENST00000333634.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SH3BGR_chr21_39446970_39520504 | 39510909 | C | CTATATAT others(13): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 302 | 0.0033 | 20 | c.436 others(35): Show |
SH3BGR | ENSG00000185437.16 | transcript | ENST00000333634.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15265512 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01255.hp2 HG01346.hp2 others(8): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0206 a0001c0001t0001g0238 others(7): Show |
11 | 376 | 0.0293 | 20 | c.496 others(37): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15265512 | T | TCTCACAC others(13): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 | 1 | 376 | 0.0027 | 20 | c.496 others(37): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15265512 | T | TCTCTCAC others(13): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0188 | 1 | 376 | 0.0027 | 20 | c.496 others(37): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15320605 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(14): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0013 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0183 a0001c0001t0001g0196 a0001c0001t0001g0216 others(14): Show |
17 | 376 | 0.0452 | 20 | c.201 others(37): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15320640 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02809.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0001g0283 a0001c0001t0008g0130 a0001c0002t0001g0321 others(2): Show |
5 | 376 | 0.0133 | 20 | c.201 others(37): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15320640 | A | ACACACAC others(13): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0167 | 1 | 376 | 0.0027 | 20 | c.201 others(37): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3D21_chr1_36301368_36326347 | 36313327 | C | CAATAAAT others(13): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01257.hp1 HG01891.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 others(4): Show |
7 | 376 | 0.0186 | 20 | c.769 others(37): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3D21_chr1_36301368_36326347 | 36313972 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01891.hp1 HG02015.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0015 a0001c0001t0001g0080 a0001c0001t0001g0082 others(6): Show |
11 | 376 | 0.0293 | 20 | c.769 others(37): Show |
SH3D21 | ENSG00000214193.11 | transcript | ENST00000453908.8 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GL1_chr19_4355370_4405547 | 4364866 | T | TTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016 | a0001c0001t0004g0311 a0001c0001t0016g0166 |
2 | 358 | 0.0056 | 20 | c.331 others(35): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 4/9 | chr19 | TogoVar | |||||||
SH3GL1_chr19_4355370_4405547 | 4401608 | A | AAAGGAAG others(13): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02630.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0016a0001c0002t0001 | a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0016g0166 others(6): Show |
9 | 358 | 0.0251 | 20 | c.-12 others(31): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 1062 | chr19 | TogoVar | |||||||
SH3GL2_chr9_17574066_17802124 | 17575064 | T | TTTCATTC others(13): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0215 | 1 | 260 | 0.0039 | 20 | c.-41 others(31): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 4001 | chr9 | TogoVar | |||||||
SH3GL2_chr9_17574066_17802124 | 17575067 | T | TATTCATT others(13): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 HG01358.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0157 a0001c0001t0004g0174 a0001c0001t0006g0212 others(5): Show |
8 | 260 | 0.0308 | 20 | c.-41 others(31): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 3998 | chr9 | TogoVar | |||||||
SH3GL2_chr9_17574066_17802124 | 17622976 | G | GTTTCCTT others(13): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 260 | 0.0039 | 20 | c.45+ others(37): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17622982 | T | TTCCCTTT others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG01070.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0038 a0001c0001t0001g0080 others(7): Show |
10 | 260 | 0.0385 | 20 | c.45+ others(37): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17622982 | T | TTTCCTTT others(13): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG00735.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0056 others(21): Show |
24 | 260 | 0.0923 | 20 | c.45+ others(37): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17622986 | G | GTTTCCTT others(13): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 260 | 0.0039 | 20 | c.45+ others(37): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17622986 | G | GTTTCCTT others(13): Show |
intron_variant | MODIFIER | HG01175.hp1 HG03669.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0073 a0001c0001t0001g0170 |
3 | 260 | 0.0115 | 20 | c.45+ others(37): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17645151 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03516.hp2 HG03710.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0040 a0001c0001t0001g0207 a0001c0001t0001g0208 others(3): Show |
6 | 260 | 0.0231 | 20 | c.45+ others(37): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17740465 | A | AGTATTGT others(13): Show |
intron_variant | MODIFIER | HG01071.hp2 HG03831.hp2 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0023 a0001c0001t0003g0035 |
3 | 260 | 0.0115 | 20 | c.46- others(35): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17743569 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02074.hp1 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0124 others(1): Show |
4 | 260 | 0.0154 | 20 | c.46- others(35): 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(13): Show |
intron_variant | MODIFIER | HG03471.hp2 NA18977.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0184 |
2 | 260 | 0.0077 | 20 | c.115 others(37): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GL3_chr15_83442341_83623743 | 83448442 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02717.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 |
3 | 324 | 0.0093 | 20 | c.45+ others(33): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SH3GLB1_chr1_86699576_86753184 | 86724892 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0122 a0001c0001t0005g0125 a0001c0001t0005g0126 others(1): Show |
4 | 318 | 0.0126 | 20 | c.570 others(35): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GLB1_chr1_86699576_86753184 | 86724892 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0123 | 1 | 318 | 0.0031 | 20 | c.570 others(35): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GLB2_chr9_129002036_129033331 | 129025611 | G | GAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01346.hp1 HG01891.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0003a0001c0001t0007a0001c0001t0019others(2): Show | a0001c0001t0003g0290 a0001c0001t0003g0343 a0001c0001t0003g0344 others(5): Show |
8 | 436 | 0.0184 | 20 | c.63+ others(35): Show |
SH3GLB2 | ENSG00000148341.18 | transcript | ENST00000372564.8 | protein_coding | 1/10 | chr9 | TogoVar | |||||||
SH3GLB2_chr9_129002036_129033331 | 129025623 | A | AAGGAAGG others(13): Show |
intron_variant | MODIFIER | NA18982.hp2 NA19088.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0041 a0001c0002t0002g0042 |
2 | 436 | 0.0046 | 20 | c.63+ others(35): Show |
SH3GLB2 | ENSG00000148341.18 | transcript | ENST00000372564.8 | protein_coding | 1/10 | chr9 | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19554017 | A | ATATATTA others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0177 |
2 | 204 | 0.0098 | 20 | c.138 others(39): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19722531 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02647.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0057 a0001c0001t0003g0058 |
2 | 204 | 0.0098 | 20 | c.287 others(39): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19760041 | C | CCTCTCCC others(13): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0180 | 1 | 204 | 0.0049 | 20 | c.163 others(39): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19878505 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 204 | 0.0049 | 20 | c.4+8 others(33): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19878505 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0194 a0001c0001t0009g0193 |
2 | 204 | 0.0098 | 20 | c.4+8 others(33): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19878505 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03486.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0013 | a0001c0001t0001g0181 a0001c0003t0013g0068 |
2 | 204 | 0.0098 | 20 | c.4+8 others(33): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103596663 | A | ACACACAC others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG01928.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0015a0001c0003t0054a0001c0003t0060others(1): Show | a0001c0003t0015g0136 a0001c0003t0015g0137 a0001c0003t0015g0183 others(4): Show |
7 | 250 | 0.0280 | 20 | c.*51 others(31): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 15/15 | 5152 | chr10 | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103596663 | A | ACACACAC others(13): Show |
3_prime_UTR_variant | MODIFIER | NA19010.hp1 NA19062.hp1 |
a0001 | a0001c0003 | a0001c0003t0033 | a0001c0003t0033g0067 a0001c0003t0033g0085 |
2 | 250 | 0.0080 | 20 | c.*51 others(31): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 15/15 | 5152 | chr10 | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103596663 | A | ACACACAC others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0008 | a0001c0008t0126 | a0001c0008t0126g0090 | 1 | 250 | 0.0040 | 20 | c.*51 others(31): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 15/15 | 5152 | chr10 | TogoVar |