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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SGK3_chr8_66707781_66867022 | 66726801 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02738.hp1 NA18988.hp2 NA19012.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0041 a0001c0002t0002g0046 a0001c0002t0002g0047 |
3 | 65 | 0.0462 | 22 | c.-12 others(43): Show |
SGK3 | ENSG00000104205.16 | transcript | ENST00000521198.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SGMS1_chr10_50300600_50628956 | 50365255 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01978.hp2 HG01993.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0020 a0001c0001t0001g0055 a0001c0001t0002g0053 others(5): Show |
8 | 124 | 0.0645 | 22 | c.-23 others(43): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50382568 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 24 | 0.0417 | 22 | c.-23 others(43): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 6/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50574961 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG01261.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0250 a0001c0002t0001g0231 a0001c0002t0002g0247 others(11): Show |
14 | 264 | 0.0530 | 22 | c.-58 others(43): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGMS1_chr10_50300600_50628956 | 50574963 | G | GTATATAT others(15): Show |
intron_variant | MODIFIER | HG03688.hp1 HG04199.hp2 HG04204.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0002t0001g0186 others(1): Show |
4 | 25 | 0.1600 | 22 | c.-58 others(43): Show |
SGMS1 | ENSG00000198964.14 | transcript | ENST00000361781.7 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
SGO2_chr2_200521207_200589096 | 200522317 | A | ATTCTTTC others(15): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG01257.hp2 HG01258.hp1 others(9): Show |
a0001a0002a0006 | a0001c0003a0002c0005a0006c0009 | a0001c0003t0002a0002c0005t0003a0006c0009t0002 | a0001c0003t0002g0008 a0001c0003t0002g0097 a0001c0003t0002g0114 others(8): Show |
12 | 111 | 0.1081 | 22 | c.-39 others(33): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 3889 | chr2 | TogoVar | |||||||
SGO2_chr2_200521207_200589096 | 200588726 | C | CTTTTTTT others(15): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01261.hp1 HG01358.hp1 others(4): Show |
a0001a0004a0018 | a0001c0002a0001c0004a0004c0008others(1): Show | a0001c0002t0001a0001c0004t0001a0004c0008t0001others(1): Show | a0001c0002t0001g0307 a0001c0004t0001g0007 a0001c0004t0001g0053 others(2): Show |
7 | 87 | 0.0805 | 22 | c.*52 others(33): Show |
SGO2 | ENSG00000163535.18 | transcript | ENST00000357799.9 | protein_coding | 4631 | chr2 | TogoVar | |||||||
SGPL1_chr10_70810948_70886184 | 70813914 | T | TCTCTCTC others(15): Show |
upstream_gene_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0243 | 1 | 65 | 0.0154 | 22 | c.-22 others(33): Show |
SGPL1 | ENSG00000166224.18 | transcript | ENST00000373202.8 | protein_coding | 2033 | chr10 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222422285 | C | CAAAAAAA others(15): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 HG03471.hp1 NA18942.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0028a0001c0007t0010 | a0001c0001t0002g0026 a0001c0001t0002g0094 a0001c0001t0028g0011 others(1): Show |
4 | 51 | 0.0784 | 22 | c.-23 others(33): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 2257 | chr2 | TogoVar | |||||||
SGPP2_chr2_222419543_222567621 | 222435029 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02074.hp1 HG03491.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0032others(1): Show | a0001c0001t0002g0007 a0001c0001t0003g0008 a0001c0001t0032g0005 others(1): Show |
4 | 267 | 0.0150 | 22 | c.219 others(41): Show |
SGPP2 | ENSG00000163082.10 | transcript | ENST00000321276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24822088 | C | CTCTTTTT others(15): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01496.hp1 HG02129.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0110 a0001c0001t0002g0097 a0001c0001t0002g0109 others(7): Show |
10 | 83 | 0.1205 | 22 | c.63+ others(39): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24860912 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 312 | 0.0032 | 22 | c.926 others(39): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 9/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM1_chr22_24801211_24932578 | 24887107 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | NA18986.hp1 NA18990.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0269 a0002c0002t0002g0270 |
2 | 122 | 0.0164 | 22 | c.177 others(39): Show |
SGSM1 | ENSG00000167037.19 | transcript | ENST00000400358.9 | protein_coding | 16/24 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SGSM2_chr17_2332501_2386054 | 2338774 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18978.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 |
3 | 168 | 0.0179 | 22 | c.57+ others(37): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SH2B2_chr7_102281868_102326711 | 102299197 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00609.hp2 others(61): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0143 others(58): Show |
64 | 156 | 0.4103 | 22 | c.-29 others(39): Show |
SH2B2 | ENSG00000160999.11 | transcript | ENST00000444095.3 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SH2D1A_chrX_124341563_124378160 | 124375177 | C | CTCTATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0126 | 1 | 92 | 0.0109 | 22 | c.*37 others(33): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2018 | chrX | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124375177 | C | CTCTCTCT others(15): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0125 | 1 | 92 | 0.0109 | 22 | c.*37 others(33): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2018 | chrX | TogoVar | |||||||
SH2D1A_chrX_124341563_124378160 | 124375177 | C | CTCTCTCT others(15): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0121 | 1 | 92 | 0.0109 | 22 | c.*37 others(33): Show |
SH2D1A | ENSG00000183918.18 | transcript | ENST00000371139.9 | protein_coding | 2018 | chrX | TogoVar | |||||||
SH2D2A_chr1_156801243_156821848 | 156817047 | T | TTCTCTCT others(15): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(45): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(21): Show |
48 | 109 | 0.4404 | 22 | c.-36 others(31): Show |
SH2D2A | ENSG00000027869.12 | transcript | ENST00000368199.8 | protein_coding | 200 | chr1 | TogoVar | |||||||
SH2D4A_chr8_19308693_19401218 | 19373455 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02809.hp2 HG02886.hp1 others(2): Show |
a0002 | a0002c0004a0002c0011 | a0002c0004t0031a0002c0011t0005 | a0002c0004t0031g0077 a0002c0011t0005g0011 a0002c0011t0005g0012 others(2): Show |
5 | 333 | 0.0150 | 22 | c.918 others(35): Show |
SH2D4A | ENSG00000104611.12 | transcript | ENST00000265807.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SH2D7_chr15_78087561_78109362 | 78089517 | G | GTTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | NA18993.hp1 NA19063.hp2 NA19072.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0024 a0002c0002t0001g0004 |
3 | 256 | 0.0117 | 22 | c.-30 others(33): Show |
SH2D7 | ENSG00000183476.13 | transcript | ENST00000328828.6 | protein_coding | 3043 | chr15 | TogoVar | |||||||
SH2D7_chr15_78087561_78109362 | 78108902 | T | TGCGCCCT others(15): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG03453.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0036 a0003c0003t0003g0076 |
3 | 430 | 0.0070 | 22 | c.*53 others(33): Show |
SH2D7 | ENSG00000183476.13 | transcript | ENST00000328828.6 | protein_coding | 4541 | chr15 | TogoVar | |||||||
SH3BGRL2_chr6_79626329_79708655 | 79648255 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG01993.hp2 HG02080.hp1 HG03654.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0040 | a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 others(1): Show |
4 | 82 | 0.0488 | 22 | c.45+ others(39): Show |
SH3BGRL2 | ENSG00000198478.8 | transcript | ENST00000369838.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15265512 | T | TCACACAC others(15): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01361.hp2 HG01884.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0171 a0001c0001t0001g0199 a0001c0001t0001g0264 others(7): Show |
10 | 31 | 0.3226 | 22 | c.496 others(39): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15265512 | T | TCTCACAC others(15): Show |
intron_variant | MODIFIER | NA18906.hp2 NA18951.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0054 a0001c0001t0006g0345 |
2 | 23 | 0.0870 | 22 | c.496 others(39): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 4/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15320605 | A | AACACACA others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG00735.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0021 | a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0188 others(11): Show |
14 | 113 | 0.1239 | 22 | c.201 others(39): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15320640 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 339 | 0.0029 | 22 | c.201 others(39): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3BP5_chr3_15249353_15337586 | 15320640 | A | ACACACAC others(15): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03942.hp2 NA21309.hp2 |
a0001a0002 | a0001c0002a0002c0003a0002c0004 | a0001c0002t0001a0002c0003t0001a0002c0004t0001 | a0001c0002t0001g0329 a0002c0003t0001g0161 a0002c0004t0001g0162 |
3 | 341 | 0.0088 | 22 | c.201 others(39): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 2/8 | chr3 | TogoVar | |||||||
SH3D21_chr1_36301368_36326347 | 36313967 | A | ATTTTTTT others(15): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0180 | 1 | 370 | 0.0027 | 22 | c.769 others(39): 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(15): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00642.hp2 others(44): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0024 a0001c0001t0001g0035 others(20): Show |
47 | 78 | 0.6026 | 22 | c.769 others(39): 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(15): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 44 | 0.0227 | 22 | c.331 others(37): Show |
SH3GL1 | ENSG00000141985.9 | transcript | ENST00000269886.7 | protein_coding | 4/9 | chr19 | TogoVar | |||||||
SH3GL2_chr9_17574066_17802124 | 17645151 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18986.hp2 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0038 a0001c0001t0002g0017 a0001c0001t0002g0129 |
3 | 9 | 0.3333 | 22 | c.45+ others(39): 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(15): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0220 | 1 | 47 | 0.0213 | 22 | c.46- others(37): 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(15): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02630.hp1 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0116 a0001c0001t0001g0125 others(1): Show |
4 | 22 | 0.1818 | 22 | c.115 others(39): Show |
SH3GL2 | ENSG00000107295.10 | transcript | ENST00000380607.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SH3GLB1_chr1_86699576_86753184 | 86724878 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0192 | 1 | 309 | 0.0032 | 22 | c.570 others(37): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GLB1_chr1_86699576_86753184 | 86724888 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0096 | 1 | 250 | 0.0040 | 22 | c.570 others(37): Show |
SH3GLB1 | ENSG00000097033.15 | transcript | ENST00000370558.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3GLB2_chr9_129002036_129033331 | 129007307 | T | TGCGCTGG others(15): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00741.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0205 a0001c0001t0011g0208 a0001c0001t0011g0209 |
3 | 434 | 0.0069 | 22 | c.*13 others(33): Show |
SH3GLB2 | ENSG00000148341.18 | transcript | ENST00000372564.8 | protein_coding | 11/11 | 1376 | chr9 | TogoVar | ||||||
SH3KBP1_chrX_19528977_19892600 | 19554097 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG02293.hp2 HG02451.hp2 HG03209.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0007a0004c0007t0001 | a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 others(2): Show |
5 | 202 | 0.0248 | 22 | c.138 others(41): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 13/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19668935 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 33 | 0.0303 | 22 | c.726 others(41): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 6/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19722531 | G | GGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 131 | 0.0076 | 22 | c.287 others(41): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 3/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19760041 | C | CCTCTCCC others(15): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0180 | 1 | 95 | 0.0105 | 22 | c.163 others(41): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 2/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19878505 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG02970.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 a0001c0001t0001g0203 |
2 | 124 | 0.0161 | 22 | c.4+8 others(35): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3KBP1_chrX_19528977_19892600 | 19878505 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 123 | 0.0081 | 22 | c.4+8 others(35): Show |
SH3KBP1 | ENSG00000147010.19 | transcript | ENST00000397821.8 | protein_coding | 1/17 | chrX | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103596663 | A | ACACACAC others(15): Show |
3_prime_UTR_variant | MODIFIER | HG01261.hp2 HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0003 | a0001c0003t0035a0001c0003t0101 | a0001c0003t0035g0058 a0001c0003t0035g0059 a0001c0003t0101g0182 |
3 | 77 | 0.0390 | 22 | c.*51 others(33): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 15/15 | 5152 | chr10 | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103596663 | A | ACACACAC others(15): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG02083.hp2 others(5): Show |
a0001a0004 | a0001c0003a0004c0011 | a0001c0003t0011a0001c0003t0058a0001c0003t0080others(2): Show | a0001c0003t0011g0013 a0001c0003t0011g0027 a0001c0003t0011g0034 others(5): Show |
8 | 82 | 0.0976 | 22 | c.*51 others(33): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 15/15 | 5152 | chr10 | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103596663 | A | ACACACAC others(15): Show |
3_prime_UTR_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0003 | a0001c0003t0055 | a0001c0003t0055g0069 | 1 | 75 | 0.0133 | 22 | c.*51 others(33): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 15/15 | 5152 | chr10 | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103596685 | T | TCTCTCTC others(15): Show |
3_prime_UTR_variant | MODIFIER | HG00642.hp2 NA18971.hp1 NA19067.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0036a0001c0005t0117 | a0001c0002t0036g0018 a0001c0002t0036g0026 a0001c0005t0117g0116 |
3 | 188 | 0.0160 | 22 | c.*51 others(33): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 15/15 | 5130 | chr10 | TogoVar | ||||||
SH3PXD2A_chr10_103589027_103860576 | 103608150 | T | TAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02896.hp1 HG02965.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0024a0001c0001t0045a0001c0002t0009 | a0001c0001t0024g0212 a0001c0001t0045g0094 a0001c0002t0009g0227 |
3 | 21 | 0.1429 | 22 | c.130 others(41): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 13/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103608151 | A | AAAAAAAA others(15): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03041.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0037a0001c0005t0016 | a0001c0002t0037g0009 a0001c0005t0016g0159 |
2 | 244 | 0.0082 | 22 | c.130 others(41): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 13/14 | chr10 | TogoVar | |||||||
SH3PXD2A_chr10_103589027_103860576 | 103702596 | C | CGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG02132.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0011a0001c0003t0032a0001c0003t0061others(1): Show | a0001c0003t0011g0034 a0001c0003t0032g0003 a0001c0003t0061g0060 others(1): Show |
4 | 29 | 0.1379 | 22 | c.399 others(39): Show |
SH3PXD2A | ENSG00000107957.17 | transcript | ENST00000369774.9 | protein_coding | 5/14 | chr10 | TogoVar |