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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPRED1_chr15_38247836_38362249 | 38278828 | G | GTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00639.hp1 others(102): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0132 others(99): Show |
105 | 201 | 0.5224 | 7 | c.33- others(24): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SPRED1_chr15_38247836_38362249 | 38316748 | G | GGTTTTTT | intron_variant | MODIFIER | NA18993.hp2 NA19076.hp1 NA19083.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0031 a0001c0002t0003g0032 a0001c0002t0003g0036 |
3 | 8 | 0.3750 | 7 | c.208 others(24): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 2/6 | chr15 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38349575 | A | AAATTAGT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 others(269): Show |
278 | 376 | 0.7394 | 7 | c.684 others(20): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 6/6 | chr15 | TogoVar | |||||||
SPRED1_chr15_38247836_38362249 | 38357917 | C | CCCCCCCG | downstream_gene_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG00673.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0037others(1): Show | a0001c0001t0001g0108 a0001c0001t0001g0134 a0001c0001t0002g0011 others(25): Show |
28 | 313 | 0.0895 | 7 | c.*62 others(18): Show |
SPRED1 | ENSG00000166068.13 | transcript | ENST00000299084.9 | protein_coding | 669 | chr15 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65338183 | C | CTCTCCCG | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02559.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 others(17): Show |
21 | 273 | 0.0769 | 7 | c.205 others(24): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
SPRED2_chr2_65305851_65437599 | 65338272 | C | CTCTCCCG | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0006g0001 others(1): Show |
5 | 266 | 0.0188 | 7 | c.205 others(24): Show |
SPRED2 | ENSG00000198369.10 | transcript | ENST00000356388.9 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
SPRY1_chr4_123391795_123408755 | 123392545 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG02723.hp2 HG02895.hp1 HG02970.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0001g0038 a0001c0001t0003g0005 others(3): Show |
8 | 98 | 0.0816 | 7 | c.-46 others(18): Show |
SPRY1 | ENSG00000164056.11 | transcript | ENST00000651917.1 | protein_coding | 4249 | chr4 | TogoVar | |||||||
SPRY3_chrX_155607586_155787459 | 155616130 | C | CTCTCTCT | intron_variant | MODIFIER | HG01496.hp2 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0084 | a0001c0001t0002g0218 a0001c0001t0084g0220 |
2 | 117 | 0.0171 | 7 | c.-28 others(26): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | chrX | TogoVar | |||||||
SPSB1_chr1_9287894_9374532 | 9292724 | A | ACGCGCCC | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01070.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0011a0001c0001t0017a0001c0001t0020others(5): Show | a0001c0001t0011g0199 a0001c0001t0017g0207 a0001c0001t0020g0197 others(11): Show |
15 | 291 | 0.0515 | 7 | c.-49 others(16): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 169 | chr1 | TogoVar | |||||||
SPSB1_chr1_9287894_9374532 | 9319391 | T | TCTCCTCC | intron_variant | MODIFIER | HG01891.hp2 HG03041.hp1 NA18522.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0017others(1): Show | a0001c0001t0003g0222 a0001c0001t0005g0107 a0001c0001t0017g0030 others(2): Show |
5 | 366 | 0.0137 | 7 | c.-15 others(28): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128561662 | C | CAAAAAAA | intron_variant | MODIFIER | HG01099.hp2 HG02109.hp2 HG02258.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0001 | a0001c0001t0001g0159 a0001c0002t0001g0258 a0001c0002t0001g0259 others(4): Show |
7 | 28 | 0.2500 | 7 | c.-3- others(22): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 1/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128606374 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(177): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(17): Show | a0001c0001t0001g0029 a0001c0001t0001g0034 a0001c0001t0001g0035 others(176): Show |
180 | 196 | 0.9184 | 7 | c.404 others(24): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 31/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54456930 | G | GAGCGGAC | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0014others(14): Show | a0001c0001t0002g0282 a0001c0001t0002g0301 a0001c0001t0007g0292 others(29): Show |
32 | 328 | 0.0976 | 7 | c.-48 others(22): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54471800 | A | ATTTTTTT | intron_variant | MODIFIER | HG00738.hp1 HG01167.hp2 HG02055.hp2 others(30): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0002g0015 a0001c0001t0002g0030 a0001c0001t0003g0059 others(30): Show |
33 | 39 | 0.8462 | 7 | c.-48 others(26): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54472022 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(57): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(23): Show | a0001c0001t0001g0156 a0001c0001t0002g0015 a0001c0001t0002g0030 others(57): Show |
60 | 114 | 0.5263 | 7 | c.-48 others(26): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54506894 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(133): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(45): Show | a0001c0001t0002g0095 a0001c0001t0004g0001 a0001c0001t0004g0072 others(133): Show |
136 | 137 | 0.9927 | 7 | c.-47 others(26): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54530353 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG00741.hp1 others(42): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(13): Show | a0001c0001t0002g0338 a0001c0001t0007g0197 a0001c0002t0001g0028 others(42): Show |
45 | 109 | 0.4128 | 7 | c.148 others(24): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54593823 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00639.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0029a0001c0002t0001others(8): Show | a0001c0001t0001g0156 a0001c0001t0029g0100 a0001c0002t0001g0010 others(29): Show |
32 | 95 | 0.3368 | 7 | c.149 others(24): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54594833 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG01106.hp2 HG01167.hp1 others(14): Show |
a0001 | a0001c0003a0001c0005a0001c0008others(3): Show | a0001c0003t0003a0001c0003t0009a0001c0005t0021others(9): Show | a0001c0003t0003g0036 a0001c0003t0009g0227 a0001c0003t0009g0235 others(14): Show |
17 | 108 | 0.1574 | 7 | c.149 others(24): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40487039 | T | TGCTGAGG | intron_variant | MODIFIER | HG02055.hp1 HG02615.hp1 HG02895.hp2 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0010a0002c0003a0004c0011others(2): Show | a0001c0010t0001a0002c0003t0001a0004c0011t0001others(2): Show | a0001c0010t0001g0091 a0002c0003t0001g0182 a0002c0003t0001g0222 others(4): Show |
7 | 232 | 0.0302 | 7 | c.170 others(22): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 2/35 | chr19 | TogoVar | |||||||
SPTBN4_chr19_40462001_40581464 | 40491713 | C | CAAAAAAA | intron_variant | MODIFIER | HG01978.hp2 HG02071.hp1 HG02074.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0008t0001others(5): Show | a0001c0001t0001g0065 a0001c0002t0001g0202 a0001c0008t0001g0044 others(8): Show |
11 | 101 | 0.1089 | 7 | c.496 others(24): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 4/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTLC1_chr9_92026147_92120413 | 92027251 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG02132.hp1 HG02683.hp1 NA18953.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0130 others(4): Show |
7 | 209 | 0.0335 | 7 | c.*52 others(18): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 3895 | chr9 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77513016 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01106.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0017 | a0001c0001t0001g0010 a0001c0001t0001g0051 a0001c0001t0001g0054 others(2): Show |
5 | 31 | 0.1613 | 7 | c.157 others(24): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
SPTSSA_chr14_34427788_34467240 | 34443395 | T | TGTGTGTG | intron_variant | MODIFIER | HG04204.hp1 NA18906.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0183 a0001c0001t0002g0071 a0001c0001t0003g0134 |
3 | 335 | 0.0090 | 7 | c.113 others(24): Show |
SPTSSA | ENSG00000165389.7 | transcript | ENST00000298130.5 | protein_coding | 1/1 | chr14 | TogoVar | |||||||
SPTSSB_chr3_161339798_161376517 | 161340773 | T | TTGGGTGA | downstream_gene_variant | MODIFIER | HG02074.hp2 HG03130.hp1 HG04184.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0179 a0001c0001t0001g0189 a0001c0001t0001g0190 others(2): Show |
5 | 410 | 0.0122 | 7 | c.*53 others(18): Show |
SPTSSB | ENSG00000196542.9 | transcript | ENST00000620149.2 | protein_coding | 4024 | chr3 | TogoVar | |||||||
SQOR_chr15_45630029_45696281 | 45661289 | T | TAAAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG01106.hp2 NA18940.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0049 others(3): Show |
6 | 126 | 0.0476 | 7 | c.235 others(22): Show |
SQOR | ENSG00000137767.14 | transcript | ENST00000260324.12 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
SQSTM1_chr5_179815905_179843078 | 179818012 | C | CAAAAAAA | upstream_gene_variant | MODIFIER | HG00673.hp1 HG00738.hp2 HG02015.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0061 a0001c0001t0001g0062 others(11): Show |
14 | 152 | 0.0921 | 7 | c.-29 others(18): Show |
SQSTM1 | ENSG00000161011.20 | transcript | ENST00000389805.9 | protein_coding | 2892 | chr5 | TogoVar | |||||||
SRBD1_chr2_45383680_45616267 | 45571537 | A | AAAAAAAC | intron_variant | MODIFIER | HG00642.hp1 HG02300.hp1 HG03704.hp1 others(5): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0004t0001 | a0002c0002t0001g0085 a0002c0002t0001g0089 a0002c0002t0001g0090 others(5): Show |
8 | 321 | 0.0249 | 7 | c.130 others(26): Show |
SRBD1 | ENSG00000068784.13 | transcript | ENST00000263736.5 | protein_coding | 9/20 | chr2 | TogoVar | |||||||
SRCIN1_chr17_38525031_38610952 | 38588100 | T | TAACAGGC | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01192.hp1 others(30): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0010a0001c0003t0001others(12): Show | a0001c0001t0001g0096 a0001c0001t0001g0126 a0001c0001t0010g0125 others(25): Show |
33 | 260 | 0.1269 | 7 | c.23- others(22): Show |
SRCIN1 | ENSG00000277363.5 | transcript | ENST00000617146.5 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SRC_chr20_37341140_37411050 | 37360218 | C | CTTTTTTT | intron_variant | MODIFIER | HG01071.hp1 HG01106.hp2 HG01346.hp1 others(35): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0007 a0001c0001t0001g0059 a0001c0001t0001g0060 others(35): Show |
38 | 208 | 0.1827 | 7 | c.-24 others(26): Show |
SRC | ENSG00000197122.13 | transcript | ENST00000373578.7 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SRC_chr20_37341140_37411050 | 37382222 | A | AGGTGCAG | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00609.hp1 others(95): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(30): Show | a0001c0001t0001g0016 a0001c0001t0001g0059 a0001c0001t0001g0060 others(94): Show |
98 | 280 | 0.3500 | 7 | c.-17 others(24): Show |
SRC | ENSG00000197122.13 | transcript | ENST00000373578.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SRD5A1_chr5_6628440_6679386 | 6654434 | T | TTTGTTTG | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(87): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(24): Show | a0001c0002t0001g0060 a0001c0002t0001g0066 a0001c0002t0002g0002 others(63): Show |
90 | 355 | 0.2535 | 7 | c.461 others(24): Show |
SRD5A1 | ENSG00000145545.13 | transcript | ENST00000274192.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SRD5A3_chr4_55341242_55378100 | 55362638 | T | TTTAGAGA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(102): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0003g0003 others(69): Show |
105 | 382 | 0.2749 | 7 | c.365 others(24): Show |
SRD5A3 | ENSG00000128039.13 | transcript | ENST00000264228.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SREK1_chr5_66139300_66188615 | 66184223 | G | GTTTTTTT | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01943.hp2 HG01993.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0012 | a0001c0001t0001g0032 a0001c0001t0004g0006 a0001c0001t0004g0021 others(3): Show |
6 | 14 | 0.4286 | 7 | c.*53 others(18): Show |
SREK1 | ENSG00000153914.16 | transcript | ENST00000334121.11 | protein_coding | 609 | chr5 | TogoVar | |||||||
SRFBP1_chr5_121956975_122033633 | 121961746 | C | CACACACA | upstream_gene_variant | MODIFIER | HG02015.hp2 HG02027.hp2 NA18994.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0010 a0001c0001t0001g0102 a0001c0001t0001g0105 others(2): Show |
5 | 77 | 0.0649 | 7 | c.-28 others(16): Show |
SRFBP1 | ENSG00000151304.6 | transcript | ENST00000339397.5 | protein_coding | 228 | chr5 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63842221 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02572.hp1 HG02647.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0007a0001c0001t0076a0001c0002t0055others(3): Show | a0001c0001t0007g0077 a0001c0001t0076g0080 a0001c0002t0055g0061 others(4): Show |
7 | 88 | 0.0795 | 7 | c.-25 others(18): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 2478 | chr12 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63856546 | T | TGCTAATA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01069.hp2 others(84): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0007a0001c0001t0067a0001c0001t0068others(78): Show | a0001c0001t0007g0039 a0001c0001t0007g0077 a0001c0001t0067g0075 others(84): Show |
87 | 168 | 0.5179 | 7 | c.67+ others(24): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63861302 | A | ATATATAT | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02135.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0067a0001c0001t0074a0001c0001t0095others(4): Show | a0001c0001t0067g0075 a0001c0001t0074g0072 a0001c0001t0095g0064 others(4): Show |
7 | 134 | 0.0522 | 7 | c.67+ others(24): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63861303 | T | TATATATA | intron_variant | MODIFIER | HG01978.hp1 HG02056.hp1 HG02132.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0117a0001c0001t0121a0001c0002t0001others(5): Show | a0001c0001t0117g0078 a0001c0001t0121g0069 a0001c0002t0001g0070 others(7): Show |
10 | 128 | 0.0781 | 7 | c.67+ others(24): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | chr12 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63868057 | T | TATATATA | intron_variant | MODIFIER | HG01257.hp1 HG01433.hp2 HG01517.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0078a0001c0001t0093a0001c0001t0106others(1): Show | a0001c0001t0078g0057 a0001c0001t0093g0052 a0001c0001t0106g0055 others(1): Show |
4 | 126 | 0.0317 | 7 | c.67+ others(24): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | chr12 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 63900206 | T | TTTTTTTC | intron_variant | MODIFIER | HG01069.hp2 HG01257.hp1 HG01261.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0078a0001c0001t0093a0001c0001t0103others(9): Show | a0001c0001t0078g0057 a0001c0001t0093g0052 a0001c0001t0103g0051 others(9): Show |
12 | 142 | 0.0845 | 7 | c.67+ others(24): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64000275 | T | TGTGTGTA | intron_variant | MODIFIER | HG02895.hp2 HG03471.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0070a0001c0002t0050 | a0001c0001t0070g0005 a0001c0002t0050g0101 |
2 | 161 | 0.0124 | 7 | c.426 others(26): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 3/21 | chr12 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 64137961 | A | ATATATAT | intron_variant | MODIFIER | HG03688.hp1 HG04184.hp2 |
a0002 | a0002c0004 | a0002c0004t0009a0002c0004t0150 | a0002c0004t0009g0053 a0002c0004t0150g0121 |
2 | 130 | 0.0154 | 7 | c.288 others(26): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 21/21 | chr12 | TogoVar | |||||||
SRGAP1_chr12_63839700_64167217 | 64141287 | A | AAAAAAAG | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02559.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0009a0001c0001t0010a0001c0001t0143others(9): Show | a0001c0001t0009g0143 a0001c0001t0010g0157 a0001c0001t0143g0004 others(9): Show |
12 | 77 | 0.1558 | 7 | c.288 others(26): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121189096 | C | CTTTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02080.hp1 others(11): Show |
a0001a0008 | a0001c0001a0008c0013 | a0001c0001t0001a0001c0001t0008a0008c0013t0007 | a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 others(11): Show |
14 | 82 | 0.1707 | 7 | c.67+ others(22): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121249581 | T | TATATATA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00621.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0041others(3): Show | a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0129 others(14): Show |
17 | 235 | 0.0723 | 7 | c.68- others(24): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SRGAP2_chr1_206198541_206469436 | 206278832 | T | TAAGGCTC | intron_variant | MODIFIER | HG00621.hp1 HG01109.hp1 HG01109.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0036a0001c0002t0002others(20): Show | a0001c0001t0001g0002 a0001c0001t0001g0133 a0001c0001t0001g0181 others(44): Show |
47 | 180 | 0.2611 | 7 | c.68- others(24): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206314113 | T | TGTTGTTG | intron_variant | MODIFIER | HG01123.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0181 |
2 | 179 | 0.0112 | 7 | c.260 others(26): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 3/22 | chr1 | TogoVar | |||||||
SRGAP2_chr1_206198541_206469436 | 206372956 | T | TTTCTTTC | intron_variant | MODIFIER | HG00280.hp2 HG02630.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0053 a0001c0001t0001g0108 a0001c0001t0001g0145 others(1): Show |
4 | 155 | 0.0258 | 7 | c.424 others(26): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP3_chr3_8975591_9254646 | 9060428 | C | CTTTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG02572.hp2 HG02615.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(11): Show | a0001c0001t0002g0067 a0001c0001t0002g0155 a0001c0001t0002g0187 others(15): Show |
18 | 74 | 0.2432 | 7 | c.673 others(20): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 5/21 | chr3 | TogoVar |