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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
STXBP1_chr9_127607277_127697699 | 127649183 | ATTGTT | A | intron_variant | MODIFIER | HG01496.hp2 HG02896.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0144 others(2): Show |
5 | 298 | 0.0168 | -5 | c.38- others(20): Show |
STXBP1 | ENSG00000136854.25 | transcript | ENST00000373299.5 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108761326 | TTAGTA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp2 others(51): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(44): Show |
54 | 332 | 0.1627 | -5 | c.438 others(22): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STXBP3_chr1_108741674_108814523 | 108771959 | TGTATC | T | intron_variant | MODIFIER | HG00597.hp2 HG02071.hp2 HG03041.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0021 a0001c0001t0002g0049 others(6): Show |
9 | 324 | 0.0278 | -5 | c.439 others(20): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
STXBP3_chr1_108741674_108814523 | 108771987 | TGTATC | T | intron_variant | MODIFIER | HG01258.hp2 HG02015.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0086 a0001c0001t0002g0124 a0001c0002t0001g0223 others(1): Show |
4 | 332 | 0.0120 | -5 | c.439 others(20): Show |
STXBP3 | ENSG00000116266.11 | transcript | ENST00000370008.4 | protein_coding | 6/18 | chr1 | TogoVar | |||||||
STXBP4_chr17_54963765_55178632 | 54982134 | CATTAA | C | intron_variant | MODIFIER | HG02109.hp1 HG02451.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0022a0001c0001t0033others(2): Show | a0001c0001t0008g0352 a0001c0001t0008g0353 a0001c0001t0008g0358 others(6): Show |
9 | 376 | 0.0239 | -5 | c.-15 others(24): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 54984334 | TTTTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp2 others(30): Show |
a0002 | a0002c0003 | a0002c0003t0004a0002c0003t0006a0002c0003t0011others(11): Show | a0002c0003t0004g0122 a0002c0003t0004g0123 a0002c0003t0004g0124 others(28): Show |
33 | 376 | 0.0878 | -5 | c.-15 others(24): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55066195 | GTTGTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00621.hp1 others(106): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(52): Show | a0001c0001t0002g0344 a0001c0001t0003g0215 a0001c0001t0003g0274 others(105): Show |
109 | 339 | 0.3215 | -5 | c.101 others(24): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55127957 | CTTCAT | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00621.hp1 others(82): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0002g0344 a0001c0001t0003g0215 a0001c0001t0003g0274 others(81): Show |
85 | 376 | 0.2261 | -5 | c.149 others(26): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP4_chr17_54963765_55178632 | 55148023 | CAAAAT | C | intron_variant | MODIFIER | HG00673.hp2 HG01433.hp1 NA18963.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0058a0001c0001t0098 | a0001c0001t0034g0254 a0001c0001t0034g0256 a0001c0001t0058g0255 others(1): Show |
4 | 376 | 0.0106 | -5 | c.154 others(24): Show |
STXBP4 | ENSG00000166263.13 | transcript | ENST00000376352.6 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121025959 | GTATAA | G | intron_variant | MODIFIER | HG00438.hp1 HG01106.hp1 HG01109.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(32): Show |
35 | 288 | 0.1215 | -5 | c.288 others(24): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121029690 | TTAAAC | T | intron_variant | MODIFIER | HG03209.hp2 HG03486.hp1 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0031 | a0001c0001t0017g0284 a0001c0001t0017g0285 a0001c0001t0031g0286 |
3 | 288 | 0.0104 | -5 | c.288 others(24): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121253805 | TTTTTC | T | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02280.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0028 a0001c0001t0008g0027 a0001c0001t0008g0029 others(3): Show |
6 | 288 | 0.0208 | -5 | c.144 others(24): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121312446 | CTTTTT | C | intron_variant | MODIFIER | HG01192.hp1 HG02622.hp1 HG03453.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0001t0005a0001c0001t0017others(1): Show | a0001c0001t0003g0160 a0001c0001t0003g0182 a0001c0001t0005g0195 others(3): Show |
6 | 59 | 0.1017 | -5 | c.211 others(24): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121416040 | GTAACT | G | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02622.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0064 a0001c0001t0010g0066 a0001c0001t0010g0067 others(1): Show |
4 | 288 | 0.0139 | -5 | c.322 others(20): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121417512 | TTAGAG | T | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp1 HG00609.hp1 others(29): Show |
a0001a0005a0009 | a0001c0001a0005c0010a0009c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0196 a0001c0001t0001g0212 a0001c0001t0001g0213 others(29): Show |
32 | 288 | 0.1111 | -5 | c.322 others(22): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5L_chr3_120903205_121429761 | 121418783 | TAAAGA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(168): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0005a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(168): Show |
171 | 288 | 0.5938 | -5 | c.344 others(22): Show |
STXBP5L | ENSG00000145087.14 | transcript | ENST00000471454.6 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147222061 | TCTTTA | T | intron_variant | MODIFIER | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0015 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | 348 | 0.0115 | -5 | c.249 others(24): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147248002 | CGGTGG | C | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0006a0001c0001t0013a0001c0001t0026others(6): Show | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(28): Show |
31 | 348 | 0.0891 | -5 | c.431 others(22): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
STXBP5_chr6_147199417_147395473 | 147269300 | CTAAAG | C | intron_variant | MODIFIER | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0015 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | 348 | 0.0115 | -5 | c.714 others(22): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | TogoVar | |||||||
STXBP5_chr6_147199417_147395473 | 147372406 | CCTTTT | C | intron_variant | MODIFIER | HG02922.hp1 HG03017.hp2 HG06807.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0009a0002c0002t0002a0002c0002t0008 | a0001c0003t0009g0191 a0002c0002t0002g0131 a0002c0002t0008g0174 |
3 | 21 | 0.1429 | -5 | c.308 others(24): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24822559 | GATTTA | G | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0061a0001c0001t0082a0001c0001t0083 | a0001c0001t0061g0015 a0001c0001t0082g0177 a0001c0001t0083g0187 |
3 | 240 | 0.0125 | -5 | c.452 others(22): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 4/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24882378 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp1 HG02055.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(14): Show | a0001c0001t0001g0076 a0001c0001t0001g0084 a0001c0001t0003g0092 others(16): Show |
19 | 27 | 0.7037 | -5 | c.155 others(24): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 24886552 | ATGTTC | A | intron_variant | MODIFIER | HG00673.hp2 HG01070.hp1 HG01071.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0002g0032 a0001c0001t0002g0054 a0001c0001t0003g0083 others(10): Show |
13 | 240 | 0.0542 | -5 | c.155 others(24): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 25036214 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp2 HG01109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0018others(6): Show | a0001c0001t0007g0139 a0001c0001t0007g0140 a0001c0001t0008g0216 others(8): Show |
11 | 78 | 0.1410 | -5 | c.-33 others(24): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 25038999 | CAGAGT | C | intron_variant | MODIFIER | HG01070.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0036a0001c0001t0078 | a0001c0001t0034g0152 a0001c0001t0034g0153 a0001c0001t0036g0155 others(1): Show |
4 | 240 | 0.0167 | -5 | c.-33 others(24): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STXBP6_chr14_24804454_25055147 | 25046431 | TAAAGG | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012a0001c0001t0023others(32): Show | a0001c0001t0008g0206 a0001c0001t0008g0210 a0001c0001t0008g0216 others(44): Show |
47 | 240 | 0.1958 | -5 | c.-33 others(22): Show |
STXBP6 | ENSG00000168952.16 | transcript | ENST00000323944.10 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
STYK1_chr12_10613923_10679052 | 10616814 | GAAGAA | G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(120): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(7): Show | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0016 others(113): Show |
123 | 366 | 0.3361 | -5 | c.*33 others(16): Show |
STYK1 | ENSG00000060140.9 | transcript | ENST00000075503.8 | protein_coding | 2108 | chr12 | TogoVar | |||||||
STYK1_chr12_10613923_10679052 | 10668539 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0001 | a0001c0001t0002g0009 a0001c0001t0002g0145 a0001c0001t0002g0178 others(9): Show |
13 | 152 | 0.0855 | -5 | c.-19 others(24): Show |
STYK1 | ENSG00000060140.9 | transcript | ENST00000075503.8 | protein_coding | 1/10 | chr12 | TogoVar | |||||||
STYK1_chr12_10613923_10679052 | 10678257 | TAAATA | T | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01261.hp1 others(3): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0024a0002c0003t0006a0002c0003t0008others(1): Show | a0002c0002t0024g0253 a0002c0003t0006g0128 a0002c0003t0006g0129 others(3): Show |
6 | 347 | 0.0173 | -5 | c.-44 others(16): Show |
STYK1 | ENSG00000060140.9 | transcript | ENST00000075503.8 | protein_coding | 4206 | chr12 | TogoVar | |||||||
STYX_chr14_52725166_52779989 | 52762153 | TACAGG | T | intron_variant | MODIFIER | HG00544.hp1 HG02015.hp2 HG02129.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0021 | a0001c0001t0004g0033 a0001c0001t0005g0025 a0001c0001t0005g0026 others(9): Show |
12 | 368 | 0.0326 | -5 | c.504 others(22): Show |
STYX | ENSG00000198252.12 | transcript | ENST00000354586.5 | protein_coding | 9/10 | chr14 | TogoVar | |||||||
STYX_chr14_52725166_52779989 | 52762878 | CTTTCT | C | intron_variant | MODIFIER | HG01168.hp2 HG02895.hp1 HG03704.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0274 a0001c0001t0001g0308 a0001c0001t0001g0310 others(3): Show |
6 | 365 | 0.0164 | -5 | c.504 others(22): Show |
STYX | ENSG00000198252.12 | transcript | ENST00000354586.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
STYX_chr14_52725166_52779989 | 52774516 | TAGATG | T | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0130 a0001c0001t0009g0131 a0001c0001t0009g0132 others(2): Show |
5 | 368 | 0.0136 | -5 | c.*34 others(16): Show |
STYX | ENSG00000198252.12 | transcript | ENST00000354586.5 | protein_coding | 11/11 | 3414 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SUCLA2_chr13_47937656_48006273 | 47938060 | TTCCTC | T | downstream_gene_variant | MODIFIER | HG03041.hp2 HG03098.hp1 HG03516.hp1 |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0279 a0004c0005t0001g0280 a0004c0005t0001g0281 |
3 | 356 | 0.0084 | -5 | c.*53 others(16): Show |
SUCLA2 | ENSG00000136143.16 | transcript | ENST00000646932.1 | protein_coding | 4595 | chr13 | TogoVar | |||||||
SUCLA2_chr13_47937656_48006273 | 47944459 | CTTCTT | C | intron_variant | MODIFIER | HG02572.hp2 HG03486.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 others(1): Show |
4 | 356 | 0.0112 | -5 | c.131 others(24): Show |
SUCLA2 | ENSG00000136143.16 | transcript | ENST00000646932.1 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
SUCLA2_chr13_47937656_48006273 | 47944490 | TTTAAG | T | intron_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01071.hp2 others(30): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0001a0002c0002t0010a0002c0011t0001 | a0002c0002t0001g0019 a0002c0002t0001g0191 a0002c0002t0001g0225 others(29): Show |
33 | 356 | 0.0927 | -5 | c.131 others(24): Show |
SUCLA2 | ENSG00000136143.16 | transcript | ENST00000646932.1 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
SUCLA2_chr13_47937656_48006273 | 47964213 | ATATAT | A | intron_variant | MODIFIER | HG02622.hp1 HG02895.hp1 HG03453.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 |
3 | 356 | 0.0084 | -5 | c.802 others(22): Show |
SUCLA2 | ENSG00000136143.16 | transcript | ENST00000646932.1 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
SUCLA2_chr13_47937656_48006273 | 47965494 | TAAAAA | T | intron_variant | MODIFIER | HG01074.hp1 HG02622.hp1 HG02809.hp2 others(3): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0009t0001 | a0002c0002t0001g0316 a0002c0002t0001g0317 a0002c0002t0001g0318 others(3): Show |
6 | 152 | 0.0395 | -5 | c.802 others(22): Show |
SUCLA2 | ENSG00000136143.16 | transcript | ENST00000646932.1 | protein_coding | 6/10 | chr13 | TogoVar | |||||||
SUCLA2_chr13_47937656_48006273 | 47986029 | GTTTTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00738.hp2 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0007 | a0002c0002t0001g0021 a0002c0002t0001g0282 a0002c0002t0001g0283 others(13): Show |
17 | 74 | 0.2297 | -5 | c.534 others(22): Show |
SUCLA2 | ENSG00000136143.16 | transcript | ENST00000646932.1 | protein_coding | 4/10 | chr13 | TogoVar | |||||||
SUCLA2_chr13_47937656_48006273 | 48002415 | TTTTTA | T | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02647.hp1 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0323 a0004c0004t0001g0324 a0004c0004t0001g0325 others(3): Show |
6 | 356 | 0.0169 | -5 | c.-11 others(16): Show |
SUCLA2 | ENSG00000136143.16 | transcript | ENST00000646932.1 | protein_coding | 1143 | chr13 | TogoVar | |||||||
SUCLG1_chr2_84418528_84464280 | 84448520 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(183): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(126): Show |
186 | 196 | 0.9490 | -5 | c.201 others(22): Show |
SUCLG1 | ENSG00000163541.12 | transcript | ENST00000393868.7 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
SUCLG1_chr2_84418528_84464280 | 84449762 | TAAAAA | T | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01106.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0006 a0001c0001t0002g0010 a0001c0001t0002g0011 others(20): Show |
32 | 40 | 0.8000 | -5 | c.98- others(16): Show |
SUCLG1 | ENSG00000163541.12 | transcript | ENST00000393868.7 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
SUCLG1_chr2_84418528_84464280 | 84451276 | CTCATA | C | intron_variant | MODIFIER | HG00609.hp1 HG02145.hp2 HG02451.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0005 a0001c0001t0002g0016 a0001c0001t0002g0056 others(5): Show |
14 | 229 | 0.0611 | -5 | c.98- others(20): Show |
SUCLG1 | ENSG00000163541.12 | transcript | ENST00000393868.7 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67381199 | TAAATA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(184): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(184): Show |
187 | 278 | 0.6727 | -5 | c.118 others(24): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67384809 | CTGGGA | C | intron_variant | MODIFIER | HG02723.hp2 HG02818.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0120 |
3 | 278 | 0.0108 | -5 | c.118 others(24): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67394431 | GATGAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00544.hp1 others(50): Show |
a0001a0003a0011others(1): Show | a0001c0001a0001c0018a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0012 others(50): Show |
53 | 278 | 0.1906 | -5 | c.118 others(24): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 10/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67436933 | CTTTTA | C | intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG02698.hp2 others(3): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0132 a0001c0001t0002g0071 a0001c0001t0004g0196 others(3): Show |
6 | 278 | 0.0216 | -5 | c.106 others(26): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67454961 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp1 others(91): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(91): Show |
94 | 149 | 0.6309 | -5 | c.106 others(26): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 9/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67531506 | AGTGTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00621.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0018a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0124 a0001c0001t0001g0125 others(36): Show |
39 | 278 | 0.1403 | -5 | c.227 others(22): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67534768 | CAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG01993.hp2 HG02622.hp1 others(6): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0269 a0001c0001t0002g0040 a0001c0001t0002g0169 others(6): Show |
9 | 81 | 0.1111 | -5 | c.227 others(22): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SUCLG2_chr3_67369719_67659612 | 67553697 | CAAATT | C | intron_variant | MODIFIER | HG03041.hp1 HG03195.hp2 NA21309.hp1 |
a0001a0005a0006 | a0001c0001a0005c0007a0006c0008 | a0001c0001t0001a0005c0007t0002a0006c0008t0001 | a0001c0001t0001g0074 a0005c0007t0002g0235 a0006c0008t0001g0205 |
3 | 278 | 0.0108 | -5 | c.227 others(24): Show |
SUCLG2 | ENSG00000172340.15 | transcript | ENST00000307227.10 | protein_coding | 2/10 | chr3 | TogoVar |