| regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RYR3_chr15_33305967_33871102 | 33325616 | T | TTCTTTCC others(18): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02738.hp2 |
a0001 | a0001c0004a0001c0101 | a0001c0004t0001a0001c0101t0001 | a0001c0004t0001g0127a0001c0101t0001g0128 | 2 | 154 | 0.0130 | 25 | c.51+ others(42): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| RYR3_chr15_33305967_33871102 | 33789658 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0095 | a0001c0095t0001 | a0001c0095t0001g0041 | 1 | 154 | 0.0065 | 25 | c.983 others(44): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| RYR3_chr15_33305967_33871102 | 33789659 | T | TATATATA others(18): Show |
intron_variant | MODIFIER | HG01261.hp2 NA18959.hp1 |
a0001 | a0001c0001a0001c0015 | a0001c0001t0001a0001c0015t0001 | a0001c0001t0001g0096a0001c0015t0001g0118 | 2 | 154 | 0.0130 | 25 | c.983 others(44): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | chr15 | TogoVar | ||||||
| S100B_chr21_46593604_46610082 | 46603392 | A | AGGGGACG others(18): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 452 | 0.0022 | 25 | c.-1- others(38): Show |
S100B | ENSG00000160307.10 | transcript | ENST00000291700.9 | protein_coding | 1/2 | chr21 | TogoVar | ||||||
| S100B_chr21_46593604_46610082 | 46603392 | A | AGGGGGTG others(18): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0192 | 1 | 452 | 0.0022 | 25 | c.-1- others(38): Show |
S100B | ENSG00000160307.10 | transcript | ENST00000291700.9 | protein_coding | 1/2 | chr21 | TogoVar | ||||||
| S100Z_chr5_76845014_76926650 | 76914379 | C | CACCAATC others(18): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(220): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(216): Show | 223 | 348 | 0.6408 | 25 | c.*3- others(40): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| S100Z_chr5_76845014_76926650 | 76914379 | C | CACCAATC others(18): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02559.hp1 HG02895.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0009a0001c0001t0011a0002c0002t0009 | a0001c0001t0009g0035a0001c0001t0009g0074a0001c0001t0009g0075others(4): Show | 7 | 348 | 0.0201 | 25 | c.*3- others(40): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SAA1_chr11_18261264_18274967 | 18264773 | A | AGAGGGGA others(18): Show |
upstream_gene_variant | MODIFIER | HG03831.hp1 NA18999.hp2 |
a0003a0005 | a0003c0003a0005c0007 | a0003c0003t0001a0005c0007t0001 | a0003c0003t0001g0002a0005c0007t0001g0013 | 2 | 442 | 0.0045 | 25 | c.-15 others(36): Show |
SAA1 | ENSG00000173432.13 | transcript | ENST00000356524.9 | protein_coding | 1490 | chr11 | TogoVar | ||||||
| SAAL1_chr11_18075292_18111082 | 18076631 | A | AGAAAGAA others(18): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0037 | 1 | 284 | 0.0035 | 25 | c.*37 others(36): Show |
SAAL1 | ENSG00000166788.10 | transcript | ENST00000524803.6 | protein_coding | 3660 | chr11 | TogoVar | ||||||
| SAAL1_chr11_18075292_18111082 | 18096096 | A | AGGGGGGG others(18): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0115 | 1 | 284 | 0.0035 | 25 | c.333 others(40): Show |
SAAL1 | ENSG00000166788.10 | transcript | ENST00000524803.6 | protein_coding | 3/11 | chr11 | TogoVar | ||||||
| SAC3D1_chr11_65036210_65049828 | 65039029 | C | CTTTTTTT others(18): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 HG03130.hp2 HG03688.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0004a0001c0002t0001g0044 | 4 | 352 | 0.0114 | 25 | c.-22 others(36): Show |
SAC3D1 | ENSG00000168061.17 | transcript | ENST00000652489.1 | protein_coding | 2180 | chr11 | TogoVar | ||||||
| SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG01258.hp2 HG02145.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 2 | 354 | 0.0057 | 25 | c.-28 others(36): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | ||||||
| SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG02257.hp2 NA19070.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0009a0001c0002t0002g0126a0001c0002t0005g0017 | 3 | 354 | 0.0085 | 25 | c.-28 others(36): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | ||||||
| SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0103 | 1 | 354 | 0.0028 | 25 | c.-28 others(36): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | ||||||
| SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(18): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 HG03139.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0036 | 2 | 354 | 0.0057 | 25 | c.-28 others(36): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | ||||||
| SACS_chr13_23323830_23438702 | 23399019 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG02148.hp1 HG02896.hp2 NA18992.hp2 others(1): Show |
a0001a0002 | a0001c0003a0001c0006a0001c0064others(1): Show | a0001c0003t0001a0001c0006t0001a0001c0064t0001others(1): Show | a0001c0003t0001g0034a0001c0006t0001g0329a0001c0064t0001g0341others(1): Show | 4 | 378 | 0.0106 | 25 | c.20+ others(42): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 2/9 | chr13 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 933988 | C | CTGCTCCG others(18): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0009 | a0001c0009t0010 | a0001c0009t0010g0308 | 1 | 434 | 0.0023 | 25 | c.843 others(42): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | chr1 | TogoVar | ||||||
| SAMD11_chr1_918923_949574 | 934125 | A | AGGCGGCT others(18): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02523.hp2 NA19067.hp1 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0253a0002c0003t0004g0254a0002c0003t0004g0255 | 3 | 434 | 0.0069 | 25 | c.843 others(42): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934176 | A | AGGGGCGG others(18): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0230 | 1 | 434 | 0.0023 | 25 | c.843 others(42): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934515 | G | GGGGGCGG others(18): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0029 | a0029c0050 | a0029c0050t0004 | a0029c0050t0004g0234 | 1 | 434 | 0.0023 | 25 | c.843 others(42): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934713 | A | AGGCGGCT others(18): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0002 | a0002c0018 | a0002c0018t0004 | a0002c0018t0004g0227 | 1 | 434 | 0.0023 | 25 | c.843 others(42): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD11_chr1_918923_949574 | 934853 | A | AGGCGGCT others(18): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0291 | 1 | 434 | 0.0023 | 25 | c.843 others(40): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| SAMD8_chr10_75106656_75187123 | 75109811 | G | GTGTTTTG others(18): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 324 | 0.0031 | 25 | c.-19 others(36): Show |
SAMD8 | ENSG00000156671.15 | transcript | ENST00000542569.6 | protein_coding | 1844 | chr10 | TogoVar | ||||||
| SARDH_chr9_133658560_133743352 | 133668405 | A | ACCTCCCT others(18): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0005 | a0005c0019 | a0005c0019t0001 | a0005c0019t0001g0079 | 1 | 262 | 0.0038 | 25 | c.249 others(44): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | ||||||
| SASH1_chr6_148337838_148557044 | 148387566 | C | CTTCTTTC others(18): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0042 | 1 | 322 | 0.0031 | 25 | c.157 others(42): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SASH1_chr6_148337838_148557044 | 148387616 | C | CTTCCTTC others(18): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0004 | a0002c0004t0008 | a0002c0004t0008g0093 | 1 | 322 | 0.0031 | 25 | c.157 others(42): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SASH1_chr6_148337838_148557044 | 148387620 | C | CTTCCTTC others(18): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0004 | a0004c0008 | a0004c0008t0003 | a0004c0008t0003g0071 | 1 | 322 | 0.0031 | 25 | c.157 others(42): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SASH1_chr6_148337838_148557044 | 148387624 | C | CTTCCTTC others(18): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0008 | a0008c0030 | a0008c0030t0001 | a0008c0030t0001g0228 | 1 | 322 | 0.0031 | 25 | c.157 others(42): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SASH1_chr6_148337838_148557044 | 148387628 | C | CTTCCTTC others(18): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0003 | a0001c0003t0018 | a0001c0003t0018g0121 | 1 | 322 | 0.0031 | 25 | c.157 others(42): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SASH1_chr6_148337838_148557044 | 148387632 | C | CTTCCTTC others(18): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0099 | 1 | 322 | 0.0031 | 25 | c.157 others(42): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SASH1_chr6_148337838_148557044 | 148387636 | C | CTTCCTTC others(18): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0006 | 1 | 322 | 0.0031 | 25 | c.157 others(42): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SASH1_chr6_148337838_148557044 | 148387640 | C | CTTCCTTC others(18): Show |
intron_variant | MODIFIER | NA18993.hp1 NA20129.hp1 |
a0001a0002 | a0001c0024a0002c0002 | a0001c0024t0010a0002c0002t0004 | a0001c0024t0010g0114a0002c0002t0004g0009 | 2 | 322 | 0.0062 | 25 | c.157 others(42): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SASH1_chr6_148337838_148557044 | 148449078 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02074.hp2 NA19004.hp1 |
a0002a0014 | a0002c0002a0014c0018 | a0002c0002t0001a0002c0002t0009a0014c0018t0004 | a0002c0002t0001g0197a0002c0002t0009g0236a0014c0018t0004g0067 | 3 | 322 | 0.0093 | 25 | c.386 others(42): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SASH1_chr6_148337838_148557044 | 148524121 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0002 | a0002c0005 | a0002c0005t0006 | a0002c0005t0006g0015 | 1 | 322 | 0.0031 | 25 | c.121 others(44): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SATB1_chr3_18340377_18430339 | 18344358 | A | ATTTTTTT others(18): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01361.hp1 HG01361.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0033a0001c0001t0098others(2): Show | a0001c0001t0009g0054a0001c0001t0009g0056a0001c0001t0033g0301others(3): Show | 6 | 352 | 0.0171 | 25 | c.*47 others(36): Show |
SATB1 | ENSG00000182568.18 | transcript | ENST00000338745.11 | protein_coding | 1018 | chr3 | TogoVar | ||||||
| SATL1_chrX_85087284_85248779 | 85118087 | C | CTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100a0001c0001t0001g0203 | 2 | 232 | 0.0086 | 25 | c.-31 others(44): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | ||||||
| SBF2_chr11_9773668_10299219 | 10196866 | A | ATATATAT others(18): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 224 | 0.0045 | 25 | c.56- others(40): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | ||||||
| SBK3_chr19_55535656_55550543 | 55548880 | G | GTTCTGCC others(18): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 438 | 0.0023 | 25 | c.-33 others(36): Show |
SBK3 | ENSG00000231274.5 | transcript | ENST00000612221.1 | protein_coding | 3338 | chr19 | TogoVar | ||||||
| SBNO1_chr12_123284109_123369847 | 123297400 | C | CAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01981.hp1 HG03195.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0004a0001c0008t0006 | a0001c0001t0004g0141a0001c0001t0004g0142a0001c0008t0006g0095 | 3 | 260 | 0.0115 | 25 | c.403 others(42): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 31/31 | chr12 | TogoVar | ||||||
| SBNO2_chr19_1102638_1179268 | 1157408 | G | GGCCCCGA others(18): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00609.hp1 others(17): Show |
a0000a0001a0002others(1): Show | a0000c0009a0000c0014a0001c0001others(6): Show | a0000c0009t0001a0000c0014t0001a0001c0001t0001others(6): Show | a0000c0009t0001g0053a0000c0014t0001g0002a0000c0014t0001g0067others(17): Show | 20 | 203 | 0.0985 | 25 | c.-12 others(44): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
| SBNO2_chr19_1102638_1179268 | 1158701 | C | CATTACCT others(18): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0019 | 1 | 203 | 0.0049 | 25 | c.-12 others(44): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
| SBNO2_chr19_1102638_1179268 | 1167011 | A | AAATGTCA others(18): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0012 | a0003c0012t0002 | a0003c0012t0002g0005 | 1 | 203 | 0.0049 | 25 | c.-12 others(44): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
| SCAF1_chr19_49637209_49663642 | 49660027 | A | ACACACAC others(18): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0006 | a0006c0011 | a0006c0011t0003 | a0006c0011t0003g0073 | 1 | 382 | 0.0026 | 25 | c.*16 others(36): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 1386 | chr19 | TogoVar | ||||||
| SCAF1_chr19_49637209_49663642 | 49660028 | C | CACACACA others(18): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0072 | 1 | 382 | 0.0026 | 25 | c.*16 others(36): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 1387 | chr19 | TogoVar | ||||||
| SCAI_chr9_124937608_125148528 | 125106122 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0164 | 1 | 306 | 0.0033 | 25 | c.98+ others(42): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | ||||||
| SCAI_chr9_124937608_125148528 | 125106122 | A | AAAAAAAA others(18): Show |
intron_variant | MODIFIER | NA18949.hp1 NA18983.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0228a0002c0002t0001g0244 | 2 | 306 | 0.0065 | 25 | c.98+ others(42): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | ||||||
| SCAI_chr9_124937608_125148528 | 125106122 | A | AAAAAAAT others(18): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0062 | a0001c0001t0002g0106a0001c0001t0062g0129 | 2 | 306 | 0.0065 | 25 | c.98+ others(42): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | ||||||
| SCAI_chr9_124937608_125148528 | 125106122 | A | AAAAATAT others(18): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0105 | 1 | 306 | 0.0033 | 25 | c.98+ others(42): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | ||||||
| SCAMP1_chr5_78355617_78485739 | 78404453 | G | GTTTTTTT others(18): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02976.hp2 |
a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0163a0002c0003t0007g0166 | 2 | 332 | 0.0060 | 25 | c.136 others(44): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SCAMP1_chr5_78355617_78485739 | 78447848 | T | TCCCTCCT others(18): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0138 | 1 | 332 | 0.0030 | 25 | c.633 others(42): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |