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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMOC2_chr6_168436184_168672992 | 168664384 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01069.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0086 a0001c0001t0003g0109 |
2 | 180 | 0.0111 | -12 | c.132 others(29): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMO_chr7_129183633_129218545 | 129214658 | GTTTGTTT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG01123.hp1 HG01934.hp1 HG03486.hp1 others(1): Show |
a0001a0002 | a0001c0005a0002c0003 | a0001c0005t0013a0001c0005t0030a0002c0003t0001 | a0001c0005t0013g0151 a0001c0005t0013g0169 a0001c0005t0030g0086 others(1): Show |
4 | 410 | 0.0098 | -12 | c.*22 others(23): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 1114 | chr7 | TogoVar | |||||||
SMPD1_chr11_6385474_6399996 | 6387249 | CATATATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG01099.hp1 others(19): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(7): Show |
22 | 388 | 0.0567 | -12 | c.-33 others(23): Show |
SMPD1 | ENSG00000166311.10 | transcript | ENST00000342245.9 | protein_coding | 3224 | chr11 | TogoVar | |||||||
SMPD1_chr11_6385474_6399996 | 6390700 | CCTGGTGC others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(18): Show |
a0004 | a0004c0004a0004c0018 | a0004c0004t0001a0004c0018t0001 | a0004c0004t0001g0001 a0004c0004t0001g0002 a0004c0004t0001g0011 others(4): Show |
21 | 388 | 0.0541 | -12 | c.107 others(19): Show |
p.Val others(11): Show |
SMPD1 | ENSG00000166311.10 | transcript | ENST00000342245.9 | protein_coding | 1/6 | 232/2410 | 107/1896 | 36/631 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
SMPD2_chr6_109435724_109448919 | 109437548 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 438 | 0.0023 | -12 | c.-35 others(23): Show |
SMPD2 | ENSG00000135587.9 | transcript | ENST00000258052.8 | protein_coding | 3175 | chr6 | TogoVar | |||||||
SMPD3_chr16_68353327_68453508 | 68403729 | GATTGTTT others(5): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 208 | 0.0048 | -12 | c.-26 others(33): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 1/8 | chr16 | TogoVar | |||||||
SMPDL3A_chr6_122784258_122814720 | 122808601 | CCCTCCCT others(5): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG01109.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0140 a0001c0001t0001g0162 others(3): Show |
6 | 442 | 0.0136 | -12 | c.104 others(29): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMPDL3A_chr6_122784258_122814720 | 122808605 | CCCTCCCT others(5): Show |
C | intron_variant | MODIFIER | HG01261.hp2 HG01515.hp2 HG01891.hp2 others(13): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0030 a0001c0001t0001g0087 a0001c0001t0001g0227 others(12): Show |
16 | 442 | 0.0362 | -12 | c.104 others(29): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMPX_chrX_21700978_21763116 | 21715262 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | NA18948.hp1 NA18987.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0191 |
2 | 289 | 0.0069 | -12 | c.*15 others(29): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | |||||||
SMPX_chrX_21700978_21763116 | 21715293 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | NA18522.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 a0001c0001t0001g0165 |
2 | 289 | 0.0069 | -12 | c.*15 others(29): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | |||||||
SMPX_chrX_21700978_21763116 | 21715301 | TGTGCGCG others(5): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0041 |
2 | 289 | 0.0069 | -12 | c.*15 others(29): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | |||||||
SMPX_chrX_21700978_21763116 | 21728214 | TTCTCTCT others(5): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02922.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0136 a0001c0001t0001g0138 |
3 | 289 | 0.0104 | -12 | c.*14 others(29): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | |||||||
SMR3B_chr4_70378131_70395244 | 70385398 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 462 | 0.0022 | -12 | c.54+ others(25): Show |
SMR3B | ENSG00000171201.12 | transcript | ENST00000304915.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21941884 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG01361.hp2 HG01891.hp2 others(12): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 others(12): Show |
15 | 298 | 0.0503 | -12 | c.49+ others(27): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21967081 | TTTATTTA others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0247 a0001c0001t0002g0180 |
2 | 298 | 0.0067 | -12 | c.50- others(24): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21988662 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(126): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0018 others(125): Show |
129 | 298 | 0.4329 | -12 | c.945 others(29): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMTNL1_chr11_57532595_57555272 | 57542109 | AAAAAACA others(5): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0098 | 1 | 366 | 0.0027 | -12 | c.-2- others(25): Show |
SMTNL1 | ENSG00000214872.9 | transcript | ENST00000527972.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SMTNL1_chr11_57532595_57555272 | 57551415 | CTTAAATA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 366 | 0.0027 | -12 | c.*13 others(23): Show |
SMTNL1 | ENSG00000214872.9 | transcript | ENST00000527972.6 | protein_coding | 1144 | chr11 | TogoVar | |||||||
SMTNL1_chr11_57532595_57555272 | 57551416 | TTAAATAA others(5): Show |
T | downstream_gene_variant | MODIFIER | HG02559.hp1 HG02818.hp1 HG02886.hp1 others(6): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0001 a0002c0001t0001g0011 a0002c0001t0001g0021 others(3): Show |
9 | 366 | 0.0246 | -12 | c.*13 others(23): Show |
SMTNL1 | ENSG00000214872.9 | transcript | ENST00000527972.6 | protein_coding | 1145 | chr11 | TogoVar | |||||||
SMTNL2_chr17_4579529_4613319 | 4581337 | CGTGTGTG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG02080.hp2 HG02135.hp2 others(6): Show |
a0001a0002 | a0001c0006a0002c0001 | a0001c0006t0003a0002c0001t0001a0002c0001t0006 | a0001c0006t0003g0173 a0002c0001t0001g0016 a0002c0001t0001g0029 others(5): Show |
9 | 442 | 0.0204 | -12 | c.-32 others(23): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 3191 | chr17 | TogoVar | |||||||
SMTNL2_chr17_4579529_4613319 | 4581371 | TGTGTGTG others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02922.hp2 HG03041.hp2 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0003 a0001c0005t0001g0034 a0001c0005t0001g0155 others(1): Show |
6 | 442 | 0.0136 | -12 | c.-32 others(23): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 3157 | chr17 | TogoVar | |||||||
SMTNL2_chr17_4579529_4613319 | 4589938 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01515.hp2 HG01884.hp2 others(7): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0007others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(3): Show | a0001c0002t0001g0172 a0001c0002t0002g0202 a0001c0003t0001g0142 others(7): Show |
10 | 442 | 0.0226 | -12 | c.400 others(29): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMU1_chr9_33036765_33081674 | 33049534 | GTTTGATG others(5): Show |
G | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0088a0001c0001t0089 | a0001c0001t0088g0185 a0001c0001t0089g0259 |
2 | 418 | 0.0048 | -12 | c.129 others(31): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 10/11 | chr9 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33067297 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp1 HG03492.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0007a0001c0005t0004 | a0001c0001t0004g0256 a0001c0001t0007g0204 a0001c0005t0004g0205 |
3 | 418 | 0.0072 | -12 | c.501 others(29): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
SMUG1_chr12_54175366_54193985 | 54188295 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01884.hp1 HG01952.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0002g0059 a0001c0001t0002g0140 a0001c0001t0005g0141 others(3): Show |
8 | 438 | 0.0183 | -12 | c.-10 others(29): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063237 | TTATTTAT others(5): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0119 a0001c0001t0011g0166 |
2 | 264 | 0.0076 | -12 | c.56- others(27): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063241 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG02040.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0156 a0001c0001t0002g0203 a0001c0001t0003g0147 others(1): Show |
4 | 264 | 0.0152 | -12 | c.56- others(27): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99125057 | TTTCATTC others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00639.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0098 others(40): Show |
43 | 264 | 0.1629 | -12 | c.55+ others(29): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99144016 | GCCGCCGC others(5): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(61): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0010others(15): Show | a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 others(60): Show |
64 | 264 | 0.2424 | -12 | c.-24 others(21): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/18 | 237 | chr7 | TogoVar | ||||||
SMURF1_chr7_99022440_99149108 | 99146711 | TAAAAAAA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(98): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 others(97): Show |
101 | 264 | 0.3826 | -12 | c.-29 others(23): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 2604 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99146737 | AAAAAAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00735.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0043 | a0001c0001t0002g0203 a0001c0001t0043g0219 |
2 | 264 | 0.0076 | -12 | c.-29 others(23): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 2630 | chr7 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64540759 | GTATATAT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00558.hp2 HG01070.hp2 HG01071.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0061 a0001c0001t0002g0029 a0001c0001t0002g0045 others(40): Show |
43 | 174 | 0.2471 | -12 | c.*50 others(23): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1522 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64549262 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0156 | 1 | 174 | 0.0058 | -12 | c.187 others(31): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 16/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64573125 | AGAGGAGG others(5): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG01070.hp2 HG01071.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0016others(3): Show | a0001c0001t0002g0029 a0001c0001t0002g0045 a0001c0001t0002g0046 others(17): Show |
20 | 174 | 0.1149 | -12 | c.858 others(29): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 9/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64607996 | CATAAATA others(5): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0048 | a0001c0001t0046g0173 a0001c0001t0048g0172 |
2 | 174 | 0.0115 | -12 | c.53- others(27): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64613673 | AGTGTGTG others(5): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02717.hp1 HG03831.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0021others(1): Show | a0001c0001t0002g0053 a0001c0001t0003g0123 a0001c0001t0021g0032 others(1): Show |
4 | 174 | 0.0230 | -12 | c.53- others(27): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64621878 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0042 | a0001c0001t0021g0032 a0001c0001t0021g0033 a0001c0001t0042g0031 |
3 | 174 | 0.0172 | -12 | c.53- others(29): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64631269 | AGAGGGGG others(5): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0027 | 1 | 174 | 0.0058 | -12 | c.53- others(29): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88085658 | AAATCTAC others(5): Show |
A | intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0050 | 1 | 338 | 0.0030 | -12 | c.314 others(29): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214293007 | CTGTTTGT others(5): Show |
C | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0090 | 1 | 380 | 0.0026 | -12 | c.173 others(31): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214293011 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(88): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(1): Show | a0001c0001t0001g0040 a0001c0001t0001g0143 a0001c0001t0001g0173 others(68): Show |
91 | 380 | 0.2395 | -12 | c.173 others(31): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245813005 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG01496.hp1 HG01934.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0042 a0001c0001t0001g0075 a0001c0001t0001g0089 others(20): Show |
23 | 150 | 0.1533 | -12 | c.107 others(33): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245843540 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02647.hp2 NA18962.hp1 others(2): Show |
a0001a0002 | a0001c0006a0002c0003a0002c0004others(1): Show | a0001c0006t0003a0002c0003t0001a0002c0004t0001others(2): Show | a0001c0006t0003g0001 a0002c0003t0001g0101 a0002c0004t0001g0121 others(2): Show |
5 | 150 | 0.0333 | -12 | c.107 others(33): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245867649 | CGTGCGTG others(5): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02257.hp2 HG02486.hp2 others(2): Show |
a0002 | a0002c0004a0002c0016 | a0002c0004t0001a0002c0016t0001 | a0002c0004t0001g0119 a0002c0004t0001g0121 a0002c0004t0001g0140 others(2): Show |
5 | 150 | 0.0333 | -12 | c.814 others(29): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 8/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245939744 | TGTTTTCC others(5): Show |
T | intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 150 | 0.0067 | -12 | c.532 others(29): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245993623 | TAGATAGA others(5): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 150 | 0.0067 | -12 | c.532 others(31): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246074913 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 150 | 0.0067 | -12 | c.532 others(33): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246113184 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | NA18962.hp2 NA18965.hp2 NA19086.hp2 |
a0001a0002 | a0001c0001a0001c0014a0002c0003 | a0001c0001t0001a0001c0014t0002a0002c0003t0002 | a0001c0001t0001g0075 a0001c0014t0002g0091 a0002c0003t0002g0102 |
3 | 150 | 0.0200 | -12 | c.532 others(33): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246116201 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00621.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0015 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0054 a0001c0001t0001g0059 a0001c0001t0001g0063 others(7): Show |
10 | 150 | 0.0667 | -12 | c.532 others(33): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246123571 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp1 HG01243.hp1 others(5): Show |
a0002 | a0002c0007a0002c0008a0002c0017 | a0002c0007t0001a0002c0007t0004a0002c0008t0001others(2): Show | a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0007t0001g0132 others(5): Show |
8 | 150 | 0.0533 | -12 | c.532 others(33): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar |