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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RTL4_chrX_112078016_112462514 | 112082809 | GAGAGAGA others(19): Show |
G | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02486.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0002a0001c0002t0004a0001c0003t0003others(1): Show | a0001c0002t0002g0027 a0001c0002t0002g0032 a0001c0002t0004g0031 others(3): Show |
6 | 134 | 0.0448 | -26 | c.-87 others(35): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 206 | chrX | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59749252 | ATATCTAT others(19): Show |
A | intron_variant | MODIFIER | HG02895.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0136 |
2 | 172 | 0.0116 | -26 | c.242 others(43): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN1_chr14_59590983_59875776 | 59749294 | ATATCTAT others(19): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02257.hp1 others(1): Show |
a0001a0003 | a0001c0007a0003c0004 | a0001c0007t0005a0003c0004t0001 | a0001c0007t0005g0071 a0003c0004t0001g0040 a0003c0004t0001g0080 others(1): Show |
4 | 172 | 0.0233 | -26 | c.242 others(43): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | |||||||
RTN2_chr19_45480294_45502047 | 45497698 | GTATATAT others(19): Show |
G | upstream_gene_variant | MODIFIER | HG02027.hp2 HG02615.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(4): Show |
10 | 432 | 0.0232 | -26 | c.-89 others(35): Show |
RTN2 | ENSG00000125744.12 | transcript | ENST00000245923.9 | protein_coding | 652 | chr19 | TogoVar | |||||||
RTN4RL1_chr17_1929677_2030334 | 2005782 | CTTTTATT others(19): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01123.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0022a0001c0001t0023others(9): Show | a0001c0001t0005g0063 a0001c0001t0022g0242 a0001c0001t0023g0087 others(13): Show |
16 | 384 | 0.0417 | -26 | c.13+ others(43): Show |
RTN4RL1 | ENSG00000185924.7 | transcript | ENST00000331238.7 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
RUBCNL_chr13_46329681_46392252 | 46362923 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG03130.hp1 NA18954.hp1 NA19083.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0068a0001c0001t0069 | a0001c0001t0004g0201 a0001c0001t0068g0200 a0001c0001t0069g0215 |
3 | 356 | 0.0084 | -26 | c.925 others(41): Show |
RUBCNL | ENSG00000102445.20 | transcript | ENST00000429979.6 | protein_coding | 6/14 | chr13 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87824159 | GCAATTAG others(19): Show |
G | intron_variant | MODIFIER | HG00423.hp1 NA18952.hp1 NA18963.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0014a0001c0001t0023others(3): Show | a0001c0001t0012g0150 a0001c0001t0012g0151 a0001c0001t0012g0152 others(9): Show |
12 | 202 | 0.0594 | -26 | c.122 others(45): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RUNX1_chr21_34782801_35054302 | 34993767 | GCACACAC others(19): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0134 | 1 | 170 | 0.0059 | -26 | c.58+ others(43): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | |||||||
RXRA_chr9_134321455_134445585 | 134441412 | ATGCACAC others(19): Show |
A | downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0087 | 1 | 232 | 0.0043 | -26 | c.*47 others(37): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 828 | chr9 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237208936 | GTATATAT others(19): Show |
G | intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0060 | 1 | 100 | 0.0100 | -26 | c.49- others(43): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237350590 | AAAAAAAA others(19): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02922.hp2 HG03516.hp1 |
a0001 | a0001c0001a0001c0007a0001c0019 | a0001c0001t0001a0001c0007t0016a0001c0019t0022 | a0001c0001t0001g0099 a0001c0007t0016g0042 a0001c0019t0022g0035 |
3 | 100 | 0.0300 | -26 | c.274 others(43): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 3/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237380359 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01361.hp1 others(1): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0023others(1): Show | a0001c0003t0005a0001c0005t0034a0001c0023t0003others(1): Show | a0001c0003t0005g0018 a0001c0005t0034g0028 a0001c0023t0003g0071 others(1): Show |
4 | 100 | 0.0400 | -26 | c.576 others(43): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 8/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237565133 | TTCTTTCT others(19): Show |
T | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0017 | 1 | 100 | 0.0100 | -26 | c.321 others(45): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 27/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237795849 | TGTATATG others(19): Show |
T | intron_variant | MODIFIER | HG01981.hp1 HG03516.hp1 |
a0001 | a0001c0019a0001c0029 | a0001c0019t0022a0001c0029t0008 | a0001c0019t0022g0035 a0001c0029t0008g0090 |
2 | 100 | 0.0200 | -26 | c.139 others(45): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 96/104 | chr1 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33794043 | CATATATA others(19): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02486.hp1 others(11): Show |
a0001a0002a0005others(6): Show | a0001c0010a0001c0047a0001c0058others(10): Show | a0001c0010t0001a0001c0047t0001a0001c0058t0002others(10): Show | a0001c0010t0001g0051 a0001c0010t0001g0142 a0001c0047t0001g0135 others(11): Show |
14 | 154 | 0.0909 | -26 | c.983 others(45): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
S100A7A_chr1_153411520_153428222 | 153425059 | TTTTTTAA others(19): Show |
T | downstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 422 | 0.0024 | -26 | c.*57 others(37): Show |
S100A7A | ENSG00000184330.12 | transcript | ENST00000368729.9 | protein_coding | 1838 | chr1 | TogoVar | |||||||
S100Z_chr5_76845014_76926650 | 76906999 | TATATATA others(19): Show |
T | intron_variant | MODIFIER | HG03834.hp1 NA18941.hp1 NA18944.hp2 others(5): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0003a0002c0002t0020others(1): Show | a0002c0002t0001g0102 a0002c0002t0001g0292 a0002c0002t0001g0330 others(5): Show |
8 | 348 | 0.0230 | -26 | c.*3- others(43): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934541 | GGGGAGGC others(19): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0004 | a0001c0004t0027 | a0001c0004t0027g0362 | 1 | 434 | 0.0023 | -26 | c.843 others(43): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD12_chr8_118372984_118626963 | 118605765 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 188 | 0.0053 | -26 | c.13+ others(43): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 1/3 | chr8 | TogoVar | |||||||
SAMD4A_chr14_54562128_54798312 | 54576001 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02809.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0014 | a0001c0001t0001g0057 a0001c0001t0004g0079 a0001c0001t0004g0080 others(1): Show |
4 | 262 | 0.0153 | -26 | c.196 others(43): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54678433 | TTGTGTGT others(19): Show |
T | intron_variant | MODIFIER | HG02965.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0012 | a0001c0001t0007g0014 a0001c0001t0012g0227 |
2 | 262 | 0.0076 | -26 | c.197 others(45): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54727166 | CTTTTTTT others(19): Show |
C | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0067 | 1 | 262 | 0.0038 | -26 | c.716 others(43): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133669308 | ATCCTCCC others(19): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0070 | a0001c0070t0008 | a0001c0070t0008g0055 | 1 | 262 | 0.0038 | -26 | c.249 others(45): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133671790 | ACCAGGAT others(19): Show |
A | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0016 | a0001c0016t0003 | a0001c0016t0003g0187 | 1 | 262 | 0.0038 | -26 | c.216 others(42): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 17/20 | chr9 | TogoVar | |||||||
SARS1_chr1_109208918_109243182 | 109222000 | ATATATAT others(19): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0375 |
3 | 402 | 0.0075 | -26 | c.137 others(43): Show |
SARS1 | ENSG00000031698.13 | transcript | ENST00000234677.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65970911 | TGAGGAGG others(19): Show |
T | intron_variant | MODIFIER | HG00673.hp1 HG01891.hp1 HG02074.hp2 others(28): Show |
a0001a0003a0011others(3): Show | a0001c0004a0001c0007a0003c0008others(4): Show | a0001c0004t0002a0001c0004t0014a0001c0007t0002others(5): Show | a0001c0004t0002g0004 a0001c0004t0002g0018 a0001c0004t0002g0019 others(18): Show |
31 | 384 | 0.0807 | -26 | c.157 others(45): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SART1_chr11_65956734_65985137 | 65971242 | TGAGGAGG others(19): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02809.hp1 HG02922.hp2 |
a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0042 a0001c0005t0002g0260 a0001c0005t0002g0263 |
3 | 384 | 0.0078 | -26 | c.157 others(45): Show |
SART1 | ENSG00000175467.15 | transcript | ENST00000312397.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148387638 | TTCTTTCT others(19): Show |
T | intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0238 | 1 | 322 | 0.0031 | -26 | c.157 others(43): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148486936 | AATATATA others(19): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(40): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0001c0028others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(17): Show | a0001c0001t0001g0101 a0001c0001t0001g0191 a0001c0001t0001g0289 others(40): Show |
43 | 322 | 0.1335 | -26 | c.628 others(41): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148537774 | TTCTGTGT others(19): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0304 | 1 | 322 | 0.0031 | -26 | c.209 others(45): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASH1_chr6_148337838_148557044 | 148537776 | CTGTGTGT others(19): Show |
C | intron_variant | MODIFIER | HG02818.hp2 HG03579.hp2 HG03927.hp2 others(1): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0035others(1): Show | a0001c0001t0002a0002c0002t0002a0002c0035t0011others(1): Show | a0001c0001t0002g0202 a0002c0002t0002g0012 a0002c0035t0011g0119 others(1): Show |
4 | 322 | 0.0124 | -26 | c.209 others(45): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 16/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SASS6_chr1_100078570_100137930 | 100083910 | CCCTTCCA others(19): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG03579.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0031 a0001c0003t0005g0238 a0001c0003t0005g0239 others(1): Show |
5 | 304 | 0.0165 | -26 | c.*13 others(37): Show |
SASS6 | ENSG00000156876.10 | transcript | ENST00000287482.6 | protein_coding | 17/17 | 1392 | chr1 | TogoVar | ||||||
SATB2_chr2_199264505_199462939 | 199386704 | GCGCGCGC others(19): Show |
G | intron_variant | MODIFIER | HG01261.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 a0001c0001t0001g0252 |
2 | 254 | 0.0079 | -26 | c.347 others(43): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATB2_chr2_199264505_199462939 | 199386708 | GCGCGCGC others(19): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0075 | 1 | 254 | 0.0039 | -26 | c.347 others(43): Show |
SATB2 | ENSG00000119042.18 | transcript | ENST00000417098.6 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85156813 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01168.hp2 HG01169.hp2 others(11): Show |
a0001a0012 | a0001c0001a0001c0007a0012c0008 | a0001c0001t0001a0001c0007t0001a0012c0008t0001 | a0001c0001t0001g0080 a0001c0001t0001g0158 a0001c0001t0001g0166 others(11): Show |
14 | 232 | 0.0603 | -26 | c.-31 others(47): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 2/7 | chrX | TogoVar | |||||||
SBF2_chr11_9773668_10299219 | 10223399 | TTATATAT others(19): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp1 HG01071.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0001a0001c0003t0002others(2): Show | a0001c0001t0002g0161 a0001c0003t0001g0160 a0001c0003t0001g0165 others(10): Show |
13 | 224 | 0.0580 | -26 | c.56- others(43): Show |
SBF2 | ENSG00000133812.18 | transcript | ENST00000256190.13 | protein_coding | 1/39 | chr11 | TogoVar | |||||||
SBK1_chr16_28287525_28328849 | 28322917 | GCGCTCTC others(19): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG01069.hp2 HG01071.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0001t0016others(6): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0010 others(32): Show |
43 | 384 | 0.1120 | -26 | c.*19 others(37): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 1998 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SBK1_chr16_28287525_28328849 | 28322919 | GCTCTCTC others(19): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02486.hp2 HG02622.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0051a0001c0001t0138a0001c0001t0165 | a0001c0001t0051g0182 a0001c0001t0051g0224 a0001c0001t0138g0184 others(1): Show |
4 | 384 | 0.0104 | -26 | c.*20 others(37): Show |
SBK1 | ENSG00000188322.8 | transcript | ENST00000341901.5 | protein_coding | 4/4 | 2010 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SBK2_chr19_55523611_55542133 | 55527816 | ATGCACAC others(19): Show |
A | downstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0089 | 1 | 434 | 0.0023 | -26 | c.*18 others(37): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 794 | chr19 | TogoVar | |||||||
SBK2_chr19_55523611_55542133 | 55539951 | GTGTGTGC others(19): Show |
G | upstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0008 | 1 | 434 | 0.0023 | -26 | c.-29 others(37): Show |
SBK2 | ENSG00000187550.9 | transcript | ENST00000413299.6 | protein_coding | 2819 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1137292 | GGGGGGAG others(19): Show |
G | intron_variant | MODIFIER | HG00438.hp1 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0168 | 1 | 203 | 0.0049 | -26 | c.280 others(43): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1137319 | GGGGGGAG others(19): Show |
G | intron_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0019 | 1 | 203 | 0.0049 | -26 | c.280 others(43): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | |||||||
SBSN_chr19_35518367_35533311 | 35520356 | CAATATAT others(19): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 NA18962.hp2 NA18970.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 7 | 450 | 0.0156 | -26 | c.*31 others(37): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 3010 | chr19 | TogoVar | |||||||
SBSN_chr19_35518367_35533311 | 35520359 | TATATATA others(19): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(142): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0005others(19): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(19): Show | a0001c0002t0001g0002 a0001c0002t0001g0028 a0001c0002t0001g0053 others(34): Show |
145 | 450 | 0.3222 | -26 | c.*31 others(37): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 3007 | chr19 | TogoVar | |||||||
SCAF11_chr12_45914131_45995574 | 45972903 | TATATAGA others(19): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG03453.hp2 |
a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0022 a0001c0007t0003g0293 |
3 | 344 | 0.0087 | -26 | c.-21 others(43): Show |
SCAF11 | ENSG00000139218.18 | transcript | ENST00000369367.8 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
SCAF4_chr21_31666000_31737118 | 31717890 | TATATACA others(19): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0125 | 1 | 352 | 0.0028 | -26 | c.31- others(43): Show |
SCAF4 | ENSG00000156304.15 | transcript | ENST00000286835.12 | protein_coding | 1/19 | chr21 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78460801 | CTTCCTCC others(19): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01070.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028 | a0001c0001t0002g0002 a0001c0001t0002g0070 a0001c0001t0002g0073 others(24): Show |
28 | 332 | 0.0843 | -26 | c.852 others(43): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | chr5 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78469910 | AAACAAAA others(19): Show |
A | intron_variant | MODIFIER | HG03453.hp2 NA18988.hp2 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0278 a0001c0001t0003g0318 a0001c0001t0011g0156 |
3 | 332 | 0.0090 | -26 | c.853 others(43): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP5_chr15_74990563_75026495 | 74991456 | CCTCCCAA others(19): Show |
C | upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 370 | 0.0027 | -26 | c.-42 others(37): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4106 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76637742 | ATGTGTGT others(19): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0169 | 1 | 312 | 0.0032 | -26 | c.264 others(47): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 21/31 | chr15 | TogoVar |