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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLFN14_chr17_35538985_35565819 | 35561738 | AAAAAAAA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02717.hp1 HG02818.hp2 HG03516.hp1 others(3): Show |
a0006a0011 | a0006c0007a0011c0021 | a0006c0007t0006a0006c0007t0026a0006c0007t0027others(1): Show | a0006c0007t0006g0025 a0006c0007t0026g0095 a0006c0007t0027g0096 others(1): Show |
6 | 426 | 0.0141 | -19 | c.-11 others(30): Show |
SLFN14 | ENSG00000236320.4 | transcript | ENST00000674182.1 | protein_coding | 920 | chr17 | TogoVar | |||||||
SLIT1_chr10_96993038_97190959 | 97108886 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0177 | 1 | 52 | 0.0192 | -19 | c.414 others(38): Show |
SLIT1 | ENSG00000187122.17 | transcript | ENST00000266058.9 | protein_coding | 4/36 | chr10 | TogoVar | |||||||
SLIT2_chr4_20246905_20625561 | 20291484 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0155 | 1 | 225 | 0.0044 | -19 | c.395 others(38): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20291490 | ATATTTTT others(12): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 213 | 0.0047 | -19 | c.395 others(38): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20291492 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01175.hp2 HG02300.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0015a0001c0002t0010 | a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0015g0046 others(1): Show |
4 | 191 | 0.0209 | -19 | c.395 others(38): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20486823 | CTTAAAGC others(12): Show |
C | intron_variant | MODIFIER | HG02572.hp1 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0010a0001c0002t0030 | a0001c0002t0010g0215 a0001c0002t0030g0218 |
2 | 228 | 0.0088 | -19 | c.611 others(34): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20518573 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG02293.hp1 HG02698.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0006a0001c0001t0009a0001c0003t0028others(2): Show | a0001c0001t0006g0127 a0001c0001t0009g0151 a0001c0003t0028g0012 others(2): Show |
5 | 222 | 0.0225 | -19 | c.105 others(36): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20518579 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0034 | 1 | 223 | 0.0045 | -19 | c.105 others(36): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168711345 | AGGGAGCT others(12): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0038 | a0001c0038t0011 | a0001c0038t0011g0066 | 1 | 132 | 0.0076 | -19 | c.255 others(36): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 24/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168834686 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 22 | 0.0455 | -19 | c.557 others(36): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 6/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168994623 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0016 | a0001c0016t0036 | a0001c0016t0036g0132 | 1 | 17 | 0.0588 | -19 | c.414 others(40): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169089019 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG03130.hp1 HG03486.hp1 |
a0001a0002 | a0001c0040a0002c0005 | a0001c0040t0001a0002c0005t0001 | a0001c0040t0001g0093 a0002c0005t0001g0016 |
2 | 10 | 0.2000 | -19 | c.413 others(40): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLMAP_chr3_57751309_57935003 | 57853956 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0008 a0001c0001t0004g0085 |
2 | 260 | 0.0077 | -19 | c.520 others(36): Show |
SLMAP | ENSG00000163681.17 | transcript | ENST00000671191.1 | protein_coding | 6/24 | chr3 | TogoVar | |||||||
SLX4IP_chr20_10430305_10633030 | 10483157 | TTGCCCAG others(12): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00597.hp2 others(93): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0113 a0001c0001t0001g0213 a0001c0001t0001g0237 others(93): Show |
96 | 264 | 0.3636 | -19 | c.27+ others(36): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLX4IP_chr20_10430305_10633030 | 10538291 | ACAAGGTT others(12): Show |
A | intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 107 | 0.0093 | -19 | c.28- others(36): Show |
SLX4IP | ENSG00000149346.15 | transcript | ENST00000334534.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47853742 | AAAATCTG others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(205): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(164): Show | a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0204 others(204): Show |
208 | 308 | 0.6753 | -19 | c.731 others(36): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 6/10 | chr18 | TogoVar | |||||||
SMAD3_chr15_67060602_67200169 | 67183017 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0101 | 1 | 308 | 0.0032 | -19 | c.871 others(36): Show |
SMAD3 | ENSG00000166949.17 | transcript | ENST00000327367.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SMAD7_chr18_48914853_48955965 | 48936098 | ACACACAC others(12): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01891.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0067 a0001c0001t0001g0330 a0001c0001t0003g0329 others(1): Show |
4 | 396 | 0.0101 | -19 | c.742 others(36): Show |
SMAD7 | ENSG00000101665.10 | transcript | ENST00000262158.8 | protein_coding | 3/3 | chr18 | TogoVar | |||||||
SMAP1_chr6_70662883_70867003 | 70725093 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02523.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 5 | 0.2000 | -19 | c.119 others(36): Show |
SMAP1 | ENSG00000112305.15 | transcript | ENST00000370455.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2155720 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 37 | 0.0270 | -19 | c.398 others(38): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 27/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCA2_chr9_2010347_2198620 | 2186304 | AAGAGACT others(12): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01243.hp1 HG02280.hp2 others(7): Show |
a0002a0003a0004others(2): Show | a0002c0005a0003c0007a0004c0014others(4): Show | a0002c0005t0001a0003c0007t0001a0003c0007t0002others(5): Show | a0002c0005t0001g0149 a0003c0007t0001g0198 a0003c0007t0002g0276 others(7): Show |
10 | 314 | 0.0318 | -19 | c.459 others(34): Show |
SMARCA2 | ENSG00000080503.25 | transcript | ENST00000349721.8 | protein_coding | 32/33 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMARCD1_chr12_50080342_50105707 | 50091766 | ACGGGGCT others(12): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00639.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 others(21): Show |
68 | 364 | 0.1868 | -19 | c.113 others(38): Show |
SMARCD1 | ENSG00000066117.15 | transcript | ENST00000394963.9 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SMC1B_chr22_45339063_45418599 | 45388992 | AAAAAAAA others(12): Show |
A | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0305 | 1 | 358 | 0.0028 | -19 | c.173 others(36): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 10/24 | chr22 | TogoVar | |||||||
SMC1B_chr22_45339063_45418599 | 45404688 | ACCTGGAA others(12): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(197): Show |
a0001a0003a0004others(10): Show | a0001c0002a0001c0004a0001c0007others(13): Show | a0001c0002t0001a0001c0002t0005a0001c0004t0003others(16): Show | a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0012 others(185): Show |
200 | 358 | 0.5587 | -19 | c.615 others(36): Show |
SMC1B | ENSG00000077935.17 | transcript | ENST00000357450.9 | protein_coding | 4/24 | chr22 | TogoVar | |||||||
SMC5_chr9_70253978_70359873 | 70343872 | AGCTAGAC others(12): Show |
A | intron_variant | MODIFIER | HG03831.hp1 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0107 | 1 | 364 | 0.0027 | -19 | c.239 others(36): Show |
SMC5 | ENSG00000198887.9 | transcript | ENST00000361138.7 | protein_coding | 17/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SMC6_chr2_17658812_17758810 | 17755244 | TGTCACTT others(12): Show |
T | upstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 252 | 0.0040 | -19 | c.-17 others(30): Show |
SMC6 | ENSG00000163029.16 | transcript | ENST00000448223.7 | protein_coding | 1435 | chr2 | TogoVar | |||||||
SMCHD1_chr18_2650726_2810017 | 2775068 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp2 HG01891.hp2 others(8): Show |
a0001a0004a0009others(1): Show | a0001c0007a0004c0008a0009c0020others(1): Show | a0001c0007t0007a0004c0008t0007a0004c0008t0011others(3): Show | a0001c0007t0007g0231 a0004c0008t0007g0222 a0004c0008t0007g0223 others(8): Show |
11 | 40 | 0.2750 | -19 | c.517 others(36): Show |
SMCHD1 | ENSG00000101596.17 | transcript | ENST00000320876.11 | protein_coding | 41/47 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SMG1_chr16_18799860_18931408 | 18874866 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00558.hp2 others(40): Show |
a0001a0002a0003 | a0001c0007a0001c0010a0001c0014others(5): Show | a0001c0007t0003a0001c0007t0023a0001c0007t0028others(8): Show | a0001c0007t0003g0175 a0001c0007t0003g0187 a0001c0007t0003g0206 others(40): Show |
43 | 53 | 0.8113 | -19 | c.189 others(38): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 13/62 | chr16 | TogoVar | |||||||
SMG1_chr16_18799860_18931408 | 18887762 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG03098.hp1 HG03540.hp2 NA18983.hp1 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0016t0003 | a0001c0001t0001g0128 a0001c0016t0003g0190 a0001c0016t0003g0191 |
3 | 20 | 0.1500 | -19 | c.822 others(36): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 6/62 | chr16 | TogoVar | |||||||
SMG5_chr1_156244224_156287825 | 156271661 | CCTCCTGG others(12): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(78): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0011 | a0001c0001t0002a0001c0002t0001a0001c0002t0005others(4): Show | a0001c0001t0002g0144 a0001c0002t0001g0004 a0001c0002t0001g0007 others(65): Show |
81 | 366 | 0.2213 | -19 | c.713 others(34): Show |
SMG5 | ENSG00000198952.8 | transcript | ENST00000361813.5 | protein_coding | 7/21 | chr1 | TogoVar | |||||||
SMIM10L1_chr12_11166194_11181016 | 11168200 | CGAAAGAA others(12): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG03225.hp1 HG03516.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0039 | a0001c0001t0001g0000 a0001c0002t0002g0000 a0001c0002t0039g0000 |
4 | 371 | 0.0108 | -19 | c.-31 others(30): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2993 | chr12 | TogoVar | |||||||
SMIM13_chr6_11088834_11143733 | 11089299 | GTTTTTTT others(12): Show |
G | upstream_gene_variant | MODIFIER | HG02559.hp2 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0028 | a0001c0001t0007g0262 a0001c0001t0028g0176 |
2 | 27 | 0.0741 | -19 | c.-50 others(30): Show |
SMIM13 | ENSG00000224531.6 | transcript | ENST00000416247.4 | protein_coding | 4534 | chr6 | TogoVar | |||||||
SMIM1_chr1_3767749_3780956 | 3773498 | TGGGCTTG others(12): Show |
T | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 418 | 0.0024 | -19 | c.-76 others(34): Show |
SMIM1 | ENSG00000235169.11 | transcript | ENST00000642557.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMIM21_chr18_75404476_75432703 | 75426631 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG01175.hp1 HG01243.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0035 a0001c0001t0001g0101 a0001c0001t0001g0102 others(1): Show |
5 | 22 | 0.2273 | -19 | c.129 others(34): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 1/2 | chr18 | TogoVar | |||||||
SMIM46_chr19_14107324_14117476 | 14109958 | AAAAAAAA others(12): Show |
A | downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 327 | 0.0031 | -19 | c.*23 others(30): Show |
SMIM46 | ENSG00000289762.1 | transcript | ENST00000699221.1 | protein_coding | 2365 | chr19 | TogoVar | |||||||
SMIM46_chr19_14107324_14117476 | 14109966 | ATATATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 344 | 0.0029 | -19 | c.*23 others(30): Show |
SMIM46 | ENSG00000289762.1 | transcript | ENST00000699221.1 | protein_coding | 2357 | chr19 | TogoVar | |||||||
SMKR1_chr7_129497531_129517918 | 129502239 | GCCCGCGC others(12): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(374): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0006a0006c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0005c0006t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(109): Show |
377 | 415 | 0.9084 | -19 | c.-58 others(28): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 291 | chr7 | TogoVar | |||||||
SMUG1_chr12_54175366_54193985 | 54188276 | TAATAATA others(12): Show |
T | intron_variant | MODIFIER | HG02293.hp1 NA18943.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0057 a0001c0001t0004g0012 |
2 | 436 | 0.0046 | -19 | c.-10 others(36): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99146711 | TAAAAAAA others(12): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0035 | a0001c0001t0014g0196 a0001c0001t0035g0195 |
2 | 8 | 0.2500 | -19 | c.-29 others(30): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 2604 | chr7 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64573202 | AGGAGGAG others(12): Show |
A | intron_variant | MODIFIER | HG03654.hp1 HG03669.hp1 HG03688.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0008a0003c0006t0008 | a0001c0001t0008g0035 a0001c0001t0008g0042 a0001c0001t0008g0043 others(1): Show |
4 | 169 | 0.0237 | -19 | c.858 others(36): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 9/18 | chr17 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88099830 | TTTTCCTC others(12): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00639.hp2 others(63): Show |
a0001a0006a0007 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(14): Show | a0001c0001t0001g0298 a0001c0001t0003g0102 a0001c0001t0003g0179 others(58): Show |
66 | 336 | 0.1964 | -19 | c.888 others(36): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214293049 | GTGTGTGT others(12): Show |
G | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 378 | 0.0026 | -19 | c.173 others(38): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245980085 | TCACAGAT others(12): Show |
T | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 150 | 0.0067 | -19 | c.532 others(38): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246096751 | GATTGTAA others(12): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02647.hp1 others(5): Show |
a0002 | a0002c0003a0002c0004a0002c0005 | a0002c0003t0001a0002c0003t0002a0002c0004t0001others(2): Show | a0002c0003t0001g0096 a0002c0003t0001g0108 a0002c0003t0001g0118 others(5): Show |
8 | 150 | 0.0533 | -19 | c.532 others(40): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246101064 | GTTTTTTG others(12): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0135 | 1 | 133 | 0.0075 | -19 | c.532 others(40): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246282305 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0013 others(31): Show |
34 | 41 | 0.8293 | -19 | c.531 others(38): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246469584 | TAATGGAA others(12): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0133 | 1 | 150 | 0.0067 | -19 | c.164 others(38): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
SNAP29_chr22_20854007_20896214 | 20887951 | TTATAATA others(12): Show |
T | 3_prime_UTR_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0002 | a0001c0002t0052 | a0001c0002t0052g0211 | 1 | 380 | 0.0026 | -19 | c.*11 others(28): Show |
SNAP29 | ENSG00000099940.12 | transcript | ENST00000215730.12 | protein_coding | 5/5 | 116 | chr22 | TogoVar | ||||||
SNAP47_chr1_227730435_227786226 | 227751744 | GTTTTTTT others(12): Show |
G | intron_variant | MODIFIER | HG02258.hp1 HG02922.hp1 HG03195.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 a0002c0002t0001g0075 a0002c0002t0001g0076 others(1): Show |
6 | 18 | 0.3333 | -19 | c.497 others(36): Show |
SNAP47 | ENSG00000143740.15 | transcript | ENST00000617596.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNAPC1_chr14_61757420_61801428 | 61796998 | CTTTTTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0097 | 1 | 113 | 0.0088 | -19 | c.*20 others(30): Show |
SNAPC1 | ENSG00000023608.5 | transcript | ENST00000216294.5 | protein_coding | 571 | chr14 | TogoVar |