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 | 168502736 | TTTTAATT others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp2 others(104): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(15): Show | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0095 others(104): Show |
107 | 180 | 0.5944 | -10 | c.85- others(25): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168558858 | CGCATGTG others(3): Show |
C | intron_variant | MODIFIER | HG02135.hp2 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0012 a0001c0002t0002g0038 |
2 | 180 | 0.0111 | -10 | c.637 others(27): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168600412 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01069.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0094 a0001c0001t0001g0115 a0001c0001t0001g0137 others(16): Show |
19 | 180 | 0.1056 | -10 | c.824 others(27): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168600434 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0010 | 1 | 180 | 0.0056 | -10 | c.824 others(27): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168664205 | TTCCAAGA others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01069.hp1 others(24): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(9): Show | a0001c0001t0001g0131 a0001c0001t0003g0086 a0001c0001t0003g0087 others(24): Show |
27 | 180 | 0.1500 | -10 | c.132 others(27): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168664384 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG01884.hp2 others(14): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(3): Show | a0001c0001t0001g0093 a0001c0001t0001g0099 a0001c0001t0001g0110 others(14): Show |
17 | 180 | 0.0944 | -10 | c.132 others(27): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168666281 | TCTTACTC others(3): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01069.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0003a0001c0001t0009a0001c0002t0007others(2): Show | a0001c0001t0003g0086 a0001c0001t0003g0087 a0001c0001t0003g0090 others(13): Show |
16 | 180 | 0.0889 | -10 | c.132 others(27): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOX_chr20_4143828_4192727 | 4168881 | CTCTATTT others(3): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01993.hp1 HG02300.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0017 a0001c0002t0001g0200 a0001c0002t0001g0240 others(3): Show |
7 | 428 | 0.0164 | -10 | c.-26 others(27): Show |
SMOX | ENSG00000088826.18 | transcript | ENST00000305958.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SMOX_chr20_4143828_4192727 | 4168883 | CTATTTTA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(122): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(8): Show | a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0033 others(116): Show |
125 | 428 | 0.2921 | -10 | c.-26 others(27): Show |
SMOX | ENSG00000088826.18 | transcript | ENST00000305958.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SMPD1_chr11_6385474_6399996 | 6387249 | CATATATA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01496.hp1 HG01928.hp2 others(14): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0009 | a0001c0001t0001a0004c0004t0001a0007c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(2): Show |
17 | 388 | 0.0438 | -10 | c.-33 others(21): Show |
SMPD1 | ENSG00000166311.10 | transcript | ENST00000342245.9 | protein_coding | 3224 | chr11 | TogoVar | |||||||
SMPD3_chr16_68353327_68453508 | 68365998 | TCCCCTGC others(3): Show |
T | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0189 | 1 | 208 | 0.0048 | -10 | c.132 others(27): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 3/8 | chr16 | TogoVar | |||||||
SMPD3_chr16_68353327_68453508 | 68367435 | CGTGCGCT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(171): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(46): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 others(166): Show |
174 | 208 | 0.8365 | -10 | c.132 others(29): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 3/8 | chr16 | TogoVar | |||||||
SMPDL3A_chr6_122784258_122814720 | 122798826 | ATATATAC others(3): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(101): Show |
a0001a0003a0006 | a0001c0001a0001c0003a0003c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0013 others(61): Show |
104 | 442 | 0.2353 | -10 | c.471 others(27): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMPDL3A_chr6_122784258_122814720 | 122799961 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0058 a0001c0001t0002g0059 |
2 | 442 | 0.0045 | -10 | c.472 others(27): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMPX_chrX_21700978_21763116 | 21715262 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG02723.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0145 a0001c0001t0001g0166 |
3 | 289 | 0.0104 | -10 | c.*15 others(27): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | |||||||
SMPX_chrX_21700978_21763116 | 21715295 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 289 | 0.0035 | -10 | c.*15 others(27): Show |
SMPX | ENSG00000091482.8 | transcript | ENST00000379494.4 | protein_coding | 4/4 | chrX | TogoVar | |||||||
SMS_chrX_21935709_21999837 | 21988662 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01071.hp2 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0075 a0001c0001t0002g0007 a0001c0001t0002g0112 others(38): Show |
41 | 298 | 0.1376 | -10 | c.945 others(27): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMTNL2_chr17_4579529_4613319 | 4581337 | CGTGTGTG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01099.hp2 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0007 | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0002t0001g0044 a0001c0002t0001g0229 a0001c0002t0001g0233 others(3): Show |
7 | 442 | 0.0158 | -10 | c.-32 others(21): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 3191 | chr17 | TogoVar | |||||||
SMTNL2_chr17_4579529_4613319 | 4581373 | TGTGTGTG others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02818.hp2 NA18955.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0001 | a0001c0002t0002g0219 a0001c0005t0001g0003 |
3 | 442 | 0.0068 | -10 | c.-32 others(21): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 3155 | chr17 | TogoVar | |||||||
SMTNL2_chr17_4579529_4613319 | 4586510 | CAAAGAGA others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03195.hp2 HG03486.hp1 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0225 a0001c0006t0003g0226 a0001c0006t0003g0227 |
3 | 442 | 0.0068 | -10 | c.399 others(27): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMTNL2_chr17_4579529_4613319 | 4589938 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01433.hp2 HG02129.hp2 others(17): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0006others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(5): Show | a0001c0002t0001g0178 a0001c0002t0001g0212 a0001c0002t0001g0216 others(16): Show |
20 | 442 | 0.0453 | -10 | c.400 others(27): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMU1_chr9_33036765_33081674 | 33037309 | TAAAAAAA others(3): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02451.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0064a0001c0001t0074others(1): Show | a0001c0001t0009g0285 a0001c0001t0009g0286 a0001c0001t0009g0287 others(8): Show |
11 | 418 | 0.0263 | -10 | c.*99 others(21): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 4455 | chr9 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33059584 | CTGTTTTG others(3): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0089 | a0001c0001t0089g0259 | 1 | 418 | 0.0024 | -10 | c.750 others(25): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 6/11 | chr9 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99039193 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03017.hp1 HG03492.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 |
3 | 264 | 0.0114 | -10 | c.155 others(27): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 13/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99040291 | ACACGCGC others(3): Show |
A | intron_variant | MODIFIER | HG03017.hp1 HG03492.hp1 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 |
3 | 264 | 0.0114 | -10 | c.155 others(25): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 13/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99059402 | AAAAATAA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(85): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0026 others(85): Show |
88 | 264 | 0.3333 | -10 | c.203 others(27): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 3/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063237 | TTATTTAT others(3): Show |
T | intron_variant | MODIFIER | HG02818.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0025 | a0001c0001t0006g0176 a0001c0001t0025g0006 |
2 | 264 | 0.0076 | -10 | c.56- others(25): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99063241 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01243.hp1 HG02132.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0058 a0001c0001t0001g0124 a0001c0001t0001g0133 others(11): Show |
14 | 264 | 0.0530 | -10 | c.56- others(25): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99077322 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG00735.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0043 | a0001c0001t0001g0097 a0001c0001t0002g0203 a0001c0001t0002g0220 others(1): Show |
4 | 264 | 0.0152 | -10 | c.56- others(27): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99085353 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03209.hp1 HG03579.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0018 | a0001c0001t0016g0008 a0001c0001t0016g0141 a0001c0001t0018g0262 others(1): Show |
4 | 264 | 0.0152 | -10 | c.56- others(27): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99093510 | CACTCTAT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(54): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0025 others(54): Show |
57 | 264 | 0.2159 | -10 | c.56- others(27): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99119003 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01934.hp2 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0037 a0001c0001t0001g0085 a0001c0001t0001g0091 others(14): Show |
17 | 264 | 0.0644 | -10 | c.55+ others(27): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99145088 | AACACACA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0178 | 1 | 264 | 0.0038 | -10 | c.-13 others(21): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 981 | chr7 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99146711 | TAAAAAAA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02257.hp1 others(7): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0186 others(7): Show |
10 | 264 | 0.0379 | -10 | c.-29 others(21): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 2604 | chr7 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64540759 | GTATATAT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG01346.hp1 HG02109.hp1 HG02258.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0013a0001c0001t0018a0001c0001t0023others(4): Show | a0001c0001t0013g0003 a0001c0001t0018g0037 a0001c0001t0018g0125 others(5): Show |
8 | 174 | 0.0460 | -10 | c.*50 others(21): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1522 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64566561 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 174 | 0.0058 | -10 | c.101 others(29): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 10/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64573223 | GAGGAGGA others(3): Show |
G | intron_variant | MODIFIER | HG01243.hp1 NA18906.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0024 | a0001c0002t0004g0011 a0001c0002t0024g0168 |
2 | 174 | 0.0115 | -10 | c.858 others(27): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 9/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64605744 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01346.hp1 HG02109.hp1 others(9): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0008 | a0001c0001t0013a0001c0001t0018a0001c0001t0023others(8): Show | a0001c0001t0013g0003 a0001c0001t0018g0037 a0001c0001t0023g0154 others(9): Show |
12 | 174 | 0.0690 | -10 | c.91+ others(23): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 2/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64613673 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0048 | a0001c0001t0023g0154 a0001c0001t0048g0172 |
2 | 174 | 0.0115 | -10 | c.53- others(25): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64624587 | TGAGGCTG others(3): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02486.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0043a0001c0003t0002a0001c0003t0005 | a0001c0001t0043g0144 a0001c0003t0002g0138 a0001c0003t0002g0139 others(4): Show |
7 | 174 | 0.0402 | -10 | c.53- others(27): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64631271 | AGGGGGGG others(3): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01192.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016a0001c0001t0019 | a0001c0001t0002g0045 a0001c0001t0002g0053 a0001c0001t0016g0043 others(2): Show |
5 | 174 | 0.0287 | -10 | c.53- others(27): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64631279 | GGGGAGAG others(3): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0050 | a0001c0001t0044g0150 a0001c0001t0050g0156 |
2 | 174 | 0.0115 | -10 | c.53- others(27): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64665973 | TTTTTATT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02257.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0015a0001c0001t0017others(3): Show | a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0073 others(9): Show |
12 | 174 | 0.0690 | -10 | c.-41 others(21): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 3667 | chr17 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88065217 | CCTCCCCC others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01169.hp2 HG01928.hp1 others(14): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0003t0003others(6): Show | a0001c0001t0002g0231 a0001c0002t0001g0227 a0001c0002t0001g0228 others(14): Show |
17 | 338 | 0.0503 | -10 | c.-26 others(21): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2607 | chr2 | TogoVar | |||||||
SMYD2_chr1_214276159_214342131 | 214293011 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01243.hp2 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0031 a0001c0001t0001g0168 a0001c0001t0001g0169 others(27): Show |
33 | 380 | 0.0868 | -10 | c.173 others(29): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD2_chr1_214276159_214342131 | 214299474 | TATATATA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(179): Show |
a0001a0004a0008 | a0001c0001a0004c0004a0008c0007 | a0001c0001t0001a0001c0001t0002a0004c0004t0003others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(162): Show |
182 | 380 | 0.4790 | -10 | c.174 others(27): Show |
SMYD2 | ENSG00000143499.14 | transcript | ENST00000366957.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245813005 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0133 | 1 | 150 | 0.0067 | -10 | c.107 others(31): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245813860 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0099 | 1 | 150 | 0.0067 | -10 | c.107 others(31): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245843540 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG01109.hp1 others(29): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(13): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0019 others(29): Show |
32 | 150 | 0.2133 | -10 | c.107 others(31): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245867647 | CGCGTGCG others(3): Show |
C | intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0078 | 1 | 150 | 0.0067 | -10 | c.814 others(27): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 8/11 | chr1 | TogoVar |