regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 | 175524122 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG02004.hp2 HG03492.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0111a0001c0001t0001g0255a0001c0001t0003g0084 | 3 | 372 | 0.0081 | -17 | c.872 others(34): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SFXN1_chr5_175473560_175534742 | 175524124 | AAATATAT others(10): Show |
A | intron_variant | MODIFIER | HG03579.hp1 NA18967.hp1 NA19030.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(2): Show | a0001c0001t0004g0035a0001c0001t0008g0046a0001c0001t0009g0177others(2): Show | 5 | 372 | 0.0134 | -17 | c.872 others(34): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SFXN1_chr5_175473560_175534742 | 175524126 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0005 | a0002c0005t0023 | a0002c0005t0023g0181 | 1 | 372 | 0.0027 | -17 | c.872 others(34): Show |
SFXN1 | ENSG00000164466.13 | transcript | ENST00000321442.10 | protein_coding | 10/10 | chr5 | TogoVar | ||||||
SFXN5_chr2_72937036_73076712 | 73047238 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0090 | 1 | 250 | 0.0040 | -17 | c.172 others(34): Show |
SFXN5 | ENSG00000144040.13 | transcript | ENST00000272433.7 | protein_coding | 2/13 | chr2 | TogoVar | ||||||
SGCB_chr4_52015706_52043299 | 52034331 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(100): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0009others(38): Show | 103 | 368 | 0.2799 | -17 | c.34- others(30): Show |
SGCB | ENSG00000163069.13 | transcript | ENST00000381431.10 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156444096 | CTCTCTCT others(10): Show |
C | intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0093 | 1 | 150 | 0.0067 | -17 | c.193 others(36): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 3/8 | chr5 | TogoVar | ||||||
SGCD_chr5_156322164_156772788 | 156769290 | TCGGAATA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 150 | 0.0067 | -17 | c.*99 others(28): Show |
SGCD | ENSG00000170624.14 | transcript | ENST00000337851.9 | protein_coding | 1503 | chr5 | TogoVar | ||||||
SGCE_chr7_94579980_94661133 | 94601443 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 390 | 0.0026 | -17 | c.826 others(32): Show |
SGCE | ENSG00000127990.19 | transcript | ENST00000648936.2 | protein_coding | 6/10 | chr7 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23299433 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG03490.hp2 NA18948.hp1 NA18974.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0005a0001c0002t0001a0001c0003t0006others(2): Show | a0001c0001t0005g0133a0001c0002t0001g0302a0001c0003t0006g0022others(2): Show | 5 | 354 | 0.0141 | -17 | c.578 others(34): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | chr13 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23299435 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG04199.hp2 |
a0001a0002 | a0001c0005a0002c0008 | a0001c0005t0002a0002c0008t0003 | a0001c0005t0002g0321a0002c0008t0003g0064 | 2 | 354 | 0.0057 | -17 | c.578 others(34): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | chr13 | TogoVar | ||||||
SGCG_chr13_23175979_23330162 | 23307979 | AATGTCAA others(10): Show |
A | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0339 | 1 | 354 | 0.0028 | -17 | c.578 others(36): Show |
SGCG | ENSG00000102683.8 | transcript | ENST00000218867.4 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SGCZ_chr8_14079845_15243431 | 14978470 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0062 | 1 | 102 | 0.0098 | -17 | c.39+ others(36): Show |
SGCZ | ENSG00000185053.14 | transcript | ENST00000382080.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
SGIP1_chr1_66529153_66756139 | 66592897 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0060 | 1 | 302 | 0.0033 | -17 | c.11- others(34): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SGIP1_chr1_66529153_66756139 | 66631693 | CTCTCTCT others(10): Show |
C | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0195 | 1 | 302 | 0.0033 | -17 | c.75- others(32): Show |
SGIP1 | ENSG00000118473.23 | transcript | ENST00000371037.9 | protein_coding | 2/24 | chr1 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134193637 | GCTGTTGT others(10): Show |
G | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 250 | 0.0040 | -17 | c.361 others(36): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134206366 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG01496.hp2 HG01993.hp2 HG02615.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0001c0001t0003a0004c0010t0001 | a0001c0001t0001g0123a0001c0001t0001g0195a0001c0001t0001g0224others(3): Show | 6 | 250 | 0.0240 | -17 | c.361 others(32): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 3/13 | chr6 | TogoVar | ||||||
SGK1_chr6_134164256_134323112 | 134235540 | TTTTTATT others(10): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 250 | 0.0040 | -17 | c.285 others(36): Show |
SGK1 | ENSG00000118515.12 | transcript | ENST00000367858.10 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
SGK2_chr20_43554027_43590627 | 43582158 | CTACCTCA others(10): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(336): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(314): Show | 339 | 416 | 0.8149 | -17 | c.939 others(34): Show |
SGK2 | ENSG00000101049.18 | transcript | ENST00000373100.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SGK3_chr8_66707781_66867022 | 66723121 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0022a0001c0002t0002g0024 | 2 | 142 | 0.0141 | -17 | c.-12 others(38): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SGK3_chr8_66707781_66867022 | 66786925 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01192.hp1 HG01978.hp2 others(19): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0008others(2): Show | a0001c0002t0002g0022a0001c0002t0002g0024a0001c0002t0002g0027others(19): Show | 22 | 142 | 0.1549 | -17 | c.-12 others(36): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
SGMS1_chr10_50300600_50628956 | 50627131 | GAAGCAAA others(10): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0244a0001c0001t0003g0204a0001c0001t0003g0205others(41): Show | 44 | 312 | 0.1410 | -17 | c.-41 others(28): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 3176 | chr10 | TogoVar | ||||||
SGMS2_chr4_107819932_107920047 | 107849660 | CTTTTTAA others(10): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 270 | 0.0037 | -17 | c.-32 others(36): Show |
SGMS2 | ENSG00000164023.15 | transcript | ENST00000690982.1 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
SGO2_chr2_200521207_200589096 | 200531110 | AGGAGGCA others(10): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00597.hp2 others(100): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0022others(6): Show | a0001c0001t0001a0001c0003t0002a0001c0022t0002others(7): Show | a0001c0001t0001g0175a0001c0003t0002g0005a0001c0003t0002g0006others(83): Show | 103 | 384 | 0.2682 | -17 | c.-2- others(32): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SGPP1_chr14_63679216_63733065 | 63719000 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01081.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086a0001c0001t0001g0177a0001c0001t0001g0178others(3): Show | 6 | 288 | 0.0208 | -17 | c.684 others(34): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
SGPP1_chr14_63679216_63733065 | 63719002 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089a0001c0001t0001g0199 | 2 | 288 | 0.0069 | -17 | c.684 others(34): Show |
SGPP1 | ENSG00000126821.8 | transcript | ENST00000247225.7 | protein_coding | 1/2 | chr14 | TogoVar | ||||||
SGPP2_chr2_222419543_222567621 | 222550960 | GTTTGAAT others(10): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02258.hp1 HG02486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0186a0001c0001t0017g0188a0001c0001t0017g0239others(1): Show | 4 | 272 | 0.0147 | -17 | c.649 others(34): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SGSH_chr17_80204276_80225333 | 80218322 | AGCTGAGG others(10): Show |
A | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 420 | 0.0024 | -17 | c.89- others(32): Show |
SGSH | ENSG00000181523.13 | transcript | ENST00000326317.11 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2352767 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 2 | 422 | 0.0047 | -17 | c.134 others(34): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SGSM2_chr17_2332501_2386054 | 2353749 | GACTGAGA others(10): Show |
G | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0374 | 1 | 422 | 0.0024 | -17 | c.134 others(34): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SH2D1B_chr1_162390268_162417136 | 162403508 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02080.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0042a0001c0001t0004g0043a0001c0001t0004g0185others(4): Show | 9 | 424 | 0.0212 | -17 | c.135 others(32): Show |
SH2D1B | ENSG00000198574.6 | transcript | ENST00000367929.3 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
SH2D4A_chr8_19308693_19401218 | 19398143 | AGAGGTTG others(10): Show |
A | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG01433.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0005a0003c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0005t0029others(3): Show | a0001c0001t0001g0130a0001c0001t0001g0132a0001c0001t0001g0229others(11): Show | 14 | 354 | 0.0396 | -17 | c.*35 others(28): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 1926 | chr8 | TogoVar | ||||||
SH2D4A_chr8_19308693_19401218 | 19398158 | TCGGAGGT others(10): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(55): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0007others(11): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0013others(21): Show | a0001c0001t0002g0026a0001c0001t0002g0030a0001c0001t0002g0033others(54): Show | 58 | 354 | 0.1638 | -17 | c.*35 others(28): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 1941 | chr8 | TogoVar | ||||||
SH2D4B_chr10_80532902_80651560 | 80572974 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | NA19060.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0219 | 1 | 322 | 0.0031 | -17 | c.495 others(34): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80572976 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | NA18989.hp2 NA18998.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0239a0003c0003t0001g0242 | 2 | 322 | 0.0062 | -17 | c.495 others(34): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH2D4B_chr10_80532902_80651560 | 80587134 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00597.hp1 others(86): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0006a0001c0010others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0029a0001c0001t0001g0189a0001c0001t0001g0190others(85): Show | 89 | 322 | 0.2764 | -17 | c.496 others(34): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
SH3BP1_chr22_37634669_37661117 | 37638535 | CCAGTCTG others(10): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01071.hp2 others(17): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0040 | a0001c0002t0002a0001c0004t0001a0001c0004t0002others(1): Show | a0001c0002t0002g0032a0001c0002t0002g0065a0001c0004t0001g0016others(9): Show | 20 | 412 | 0.0485 | -17 | c.-12 others(28): Show |
SH3BP1 | ENSG00000100092.24 | transcript | ENST00000649765.2 | protein_coding | 1133 | chr22 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15251861 | AAGATGCT others(10): Show |
A | downstream_gene_variant | MODIFIER | NA18972.hp1 | a0006 | a0006c0010 | a0006c0010t0018 | a0006c0010t0018g0139 | 1 | 376 | 0.0027 | -17 | c.*42 others(28): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2491 | chr3 | TogoVar | ||||||
SH3D19_chr4_151115281_151330605 | 151195371 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 282 | 0.0036 | -17 | c.153 others(34): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 2/19 | chr4 | TogoVar | ||||||
SH3GL2_chr9_17574066_17802124 | 17585671 | TCTCAGTG others(10): Show |
T | intron_variant | MODIFIER | HG00558.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0130 | 2 | 260 | 0.0077 | -17 | c.45+ others(32): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SH3GL2_chr9_17574066_17802124 | 17750328 | CAAAATGA others(10): Show |
C | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 260 | 0.0039 | -17 | c.114 others(34): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SH3GL2_chr9_17574066_17802124 | 17758561 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160a0001c0001t0001g0194a0001c0001t0001g0249 | 3 | 260 | 0.0115 | -17 | c.115 others(34): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SH3GL3_chr15_83442341_83623743 | 83541312 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01261.hp1 HG01891.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0023a0001c0001t0001g0029a0001c0001t0001g0030others(5): Show | 8 | 324 | 0.0247 | -17 | c.46- others(34): Show |
SH3GL3 | ENSG00000140600.17 | transcript | ENST00000427482.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
SH3KBP1_chrX_19528977_19892600 | 19567518 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 204 | 0.0049 | -17 | c.138 others(36): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19643305 | TTATTTTT others(10): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191a0001c0001t0001g0192 | 2 | 204 | 0.0098 | -17 | c.802 others(34): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 7/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19760009 | GTCTCTCT others(10): Show |
G | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 204 | 0.0049 | -17 | c.163 others(36): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19856951 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02293.hp2 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0011a0001c0003t0013 | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0011g0045others(1): Show | 4 | 204 | 0.0196 | -17 | c.5-2 others(32): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19887601 | GAAAAAAA others(10): Show |
G | upstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 204 | 0.0049 | -17 | c.-30 others(26): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2 | chrX | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103650162 | AGCAGCAG others(10): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp2 others(99): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0006a0001c0001t0023a0001c0001t0024others(60): Show | a0001c0001t0006g0171a0001c0001t0006g0238a0001c0001t0006g0242others(98): Show | 102 | 250 | 0.4080 | -17 | c.604 others(36): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 8/14 | chr10 | TogoVar | ||||||
SH3TC1_chr4_8194290_8246103 | 8236322 | GGAGCTGC others(10): Show |
G | frameshift_variant | HIGH | HG02148.hp1 | a0028 | a0028c0079 | a0028c0079t0001 | a0028c0079t0001g0215 | 1 | 374 | 0.0027 | -17 | c.345 others(26): Show |
p.Glu others(6): Show |
SH3TC1 | ENSG00000125089.18 | transcript | ENST00000245105.8 | protein_coding | 16/18 | 3595/4303 | 3451/4011 | 1151/1336 | chr4 | TogoVar | ||
SH3TC2_chr5_148977150_149068062 | 149021884 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0068 | 1 | 326 | 0.0031 | -17 | c.305 others(36): Show |
SH3TC2 | ENSG00000169247.14 | transcript | ENST00000515425.6 | protein_coding | 12/16 | chr5 | TogoVar |