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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RUNDC3B_chr7_87623398_87837296 | 87626246 | A | ATGTCATA others(42): Show |
upstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0121 | 1 | 202 | 0.0050 | 49 | c.-25 others(60): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2151 | chr7 | TogoVar | |||||||
RWDD2B_chr21_28999384_29024349 | 29011606 | A | ACCCAGCC others(42): Show |
intron_variant | MODIFIER | HG02602.hp1 HG03490.hp2 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026 | a0001c0001t0001g0026 a0001c0001t0001g0065 a0001c0001t0026g0057 |
4 | 438 | 0.0091 | 49 | c.68- others(64): Show |
RWDD2B | ENSG00000156253.7 | transcript | ENST00000493196.2 | protein_coding | 1/4 | chr21 | TogoVar | |||||||
RWDD2B_chr21_28999384_29024349 | 29011606 | A | ACCCGGCC others(42): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 others(32): Show |
58 | 438 | 0.1324 | 49 | c.68- others(64): Show |
RWDD2B | ENSG00000156253.7 | transcript | ENST00000493196.2 | protein_coding | 1/4 | chr21 | TogoVar | |||||||
RWDD2B_chr21_28999384_29024349 | 29011655 | G | GCCCGGCC others(42): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 438 | 0.0023 | 49 | c.68- others(64): Show |
RWDD2B | ENSG00000156253.7 | transcript | ENST00000493196.2 | protein_coding | 1/4 | chr21 | TogoVar | |||||||
S100A2_chr1_153556108_153570844 | 153556420 | T | TGGCTAAG others(42): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 370 | 0.0027 | 49 | c.*50 others(60): Show |
S100A2 | ENSG00000196754.13 | transcript | ENST00000368708.9 | protein_coding | 4687 | chr1 | TogoVar | |||||||
SACS_chr13_23323830_23438702 | 23428419 | A | ATTACTCC others(42): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0126 | 1 | 378 | 0.0027 | 49 | c.-50 others(68): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 1/9 | chr13 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 939436 | C | CCCCCTCA others(42): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0007 | a0007c0023 | a0007c0023t0003 | a0007c0023t0003g0208 | 1 | 434 | 0.0023 | 49 | c.119 others(64): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SARDH_chr9_133658560_133743352 | 133668470 | T | TCCCCTCA others(42): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0016 | a0001c0016t0003 | a0001c0016t0003g0187 | 1 | 262 | 0.0038 | 49 | c.249 others(68): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668998 | C | CACCCTCC others(42): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0011 | a0011c0077 | a0011c0077t0002 | a0011c0077t0002g0057 | 1 | 262 | 0.0038 | 49 | c.249 others(68): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133669042 | T | TCCCTCAC others(42): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0002 | a0002c0059 | a0002c0059t0002 | a0002c0059t0002g0030 | 1 | 262 | 0.0038 | 49 | c.249 others(68): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133669160 | C | CATCCTCC others(42): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0199 | 1 | 262 | 0.0038 | 49 | c.249 others(68): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SASH1_chr6_148337838_148557044 | 148387620 | C | CTTCCTTC others(42): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0252 | 1 | 322 | 0.0031 | 49 | c.157 others(66): Show |
SASH1 | ENSG00000111961.19 | transcript | ENST00000367467.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1165805 | C | CCCAGACC others(42): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0015 | 1 | 203 | 0.0049 | 49 | c.-12 others(68): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBSPON_chr8_73059543_73098172 | 73067607 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0013 | a0003c0013t0011 | a0003c0013t0011g0300 | 1 | 414 | 0.0024 | 49 | c.678 others(64): Show |
SBSPON | ENSG00000164764.11 | transcript | ENST00000297354.7 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78430146 | T | TTATAAAT others(42): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0168 | 1 | 332 | 0.0030 | 49 | c.632 others(66): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78430222 | T | TTATTTAT others(42): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02559.hp1 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0162 a0002c0003t0007g0163 a0002c0003t0007g0164 others(5): Show |
8 | 332 | 0.0241 | 49 | c.632 others(66): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78460754 | T | TTCCTTCC others(42): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0153 | 1 | 332 | 0.0030 | 49 | c.852 others(66): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78460758 | T | TTCCTTCC others(42): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0017 | a0001c0001t0005g0143 a0001c0001t0005g0152 a0001c0001t0017g0154 |
3 | 332 | 0.0090 | 49 | c.852 others(66): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78460762 | T | TTCCTTCC others(42): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0144 a0001c0001t0005g0147 |
2 | 332 | 0.0060 | 49 | c.852 others(66): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP5_chr15_74990563_75026495 | 74990964 | T | TTTTTTTC others(42): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 370 | 0.0027 | 49 | c.-47 others(60): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4598 | chr15 | TogoVar | |||||||
SCAMP5_chr15_74990563_75026495 | 74991133 | T | TTTCTTTC others(42): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 370 | 0.0027 | 49 | c.-45 others(60): Show |
SCAMP5 | ENSG00000198794.12 | transcript | ENST00000425597.8 | protein_coding | 4429 | chr15 | TogoVar | |||||||
SCML4_chr6_107697154_107829313 | 107803392 | T | TCGCCCGG others(42): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0003 | a0003c0013 | a0003c0013t0006 | a0003c0013t0006g0037 | 1 | 250 | 0.0040 | 49 | c.-60 others(68): Show |
SCML4 | ENSG00000146285.15 | transcript | ENST00000369020.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414897 | T | TTATATAG others(42): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02074.hp2 HG02257.hp2 others(9): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0315 a0001c0001t0003g0043 a0001c0001t0003g0346 others(9): Show |
12 | 394 | 0.0305 | 49 | c.341 others(68): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1284189 | G | GGTGAGGG others(42): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0130 | 1 | 290 | 0.0035 | 49 | c.464 others(64): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCYGR1_chr2_227382683_227392949 | 227389894 | T | TTTTCTTT others(42): Show |
upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 1 | 454 | 0.0022 | 49 | c.-19 others(60): Show |
SCYGR1 | ENSG00000284629.1 | transcript | ENST00000641359.1 | protein_coding | 1946 | chr2 | TogoVar | |||||||
SDCCAG8_chr1_243251041_243505091 | 243339104 | G | GGTGGGCG others(42): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 189 | 0.0053 | 49 | c.122 others(68): Show |
SDCCAG8 | ENSG00000054282.16 | transcript | ENST00000366541.8 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SDF2_chr17_28643346_28666906 | 28663828 | A | ATTTTTTT others(42): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 398 | 0.0025 | 49 | c.-19 others(60): Show |
SDF2 | ENSG00000132581.10 | transcript | ENST00000247020.9 | protein_coding | 1923 | chr17 | TogoVar | |||||||
SDHA_chr5_213320_262082 | 229964 | A | AATATTAT others(42): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 266 | 0.0038 | 49 | c.771 others(64): Show |
SDHA | ENSG00000073578.18 | transcript | ENST00000264932.11 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 4248913 | G | GCACACAT others(42): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01243.hp2 others(18): Show |
a0001a0002a0009others(7): Show | a0001c0008a0001c0014a0001c0017others(15): Show | a0001c0008t0007a0001c0014t0018a0001c0017t0011others(15): Show | a0001c0008t0007g0067 a0001c0014t0018g0060 a0001c0014t0018g0062 others(18): Show |
21 | 116 | 0.1810 | 49 | c.638 others(68): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 44/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02145.hp2 | a0019 | a0019c0076 | a0019c0076t0034 | a0019c0076t0034g0020 | 1 | 204 | 0.0049 | 49 | c.559 others(68): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | NA18993.hp2 | a0027 | a0027c0091 | a0027c0091t0008 | a0027c0091t0008g0182 | 1 | 204 | 0.0049 | 49 | c.559 others(68): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SDK2_chr17_73329384_73649445 | 73355174 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0010 | a0001c0010t0018 | a0001c0010t0018g0109 | 1 | 204 | 0.0049 | 49 | c.559 others(68): Show |
SDK2 | ENSG00000069188.17 | transcript | ENST00000392650.8 | protein_coding | 40/44 | chr17 | TogoVar | |||||||
SEH1L_chr18_12943011_12992531 | 12979687 | T | TGGGCGGG others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01070.hp1 HG01070.hp2 others(61): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0010 a0001c0001t0001g0014 others(60): Show |
64 | 388 | 0.1650 | 49 | c.761 others(64): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12979691 | C | CGGGGGGC others(42): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02132.hp1 NA18981.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0347 a0001c0004t0001g0348 a0001c0004t0001g0349 others(1): Show |
4 | 388 | 0.0103 | 49 | c.761 others(64): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12979692 | G | GGGGGGCT others(42): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0256 |
2 | 388 | 0.0052 | 49 | c.761 others(64): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12980708 | T | TTCCCTCA others(42): Show |
intron_variant | MODIFIER | HG02132.hp2 NA18944.hp1 NA18966.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 a0001c0001t0001g0243 a0001c0001t0001g0251 others(2): Show |
5 | 388 | 0.0129 | 49 | c.762 others(66): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12980708 | T | TTCCCTCC others(42): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 388 | 0.0026 | 49 | c.762 others(66): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12980725 | C | CGGCTGGC others(42): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(298): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(293): Show |
301 | 388 | 0.7758 | 49 | c.762 others(66): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SEH1L_chr18_12943011_12992531 | 12980725 | C | CGGCTGGC others(42): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 388 | 0.0026 | 49 | c.762 others(66): Show |
SEH1L | ENSG00000085415.16 | transcript | ENST00000399892.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SELENOI_chr2_26341143_26400885 | 26370797 | A | ACCTCCCG others(42): Show |
intron_variant | MODIFIER | HG02886.hp2 HG03453.hp2 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0006a0001c0006t0006 | a0001c0005t0006g0027 a0001c0006t0006g0028 |
2 | 334 | 0.0060 | 49 | c.311 others(66): Show |
SELENOI | ENSG00000138018.19 | transcript | ENST00000260585.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SEMA3A_chr7_83950777_84199789 | 84091079 | T | TGAAAGAA others(42): Show |
intron_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 276 | 0.0036 | 49 | c.453 others(68): Show |
SEMA3A | ENSG00000075213.11 | transcript | ENST00000265362.9 | protein_coding | 4/16 | chr7 | TogoVar | |||||||
SEMA5A_chr5_9030033_9551075 | 9353096 | A | AAGGAAAG others(42): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0086 | 1 | 134 | 0.0075 | 49 | c.125 others(68): Show |
SEMA5A | ENSG00000112902.12 | transcript | ENST00000382496.10 | protein_coding | 3/22 | chr5 | TogoVar | |||||||
SENP1_chr12_48037897_48111079 | 48104221 | A | AAAAAAAT others(42): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0313 | 1 | 394 | 0.0025 | 49 | c.-45 others(66): Show |
SENP1 | ENSG00000079387.15 | transcript | ENST00000549518.6 | protein_coding | 1/17 | chr12 | TogoVar | |||||||
SEPTIN14_chr7_55788540_55867752 | 55830349 | A | ATATATAT others(42): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0076 | 1 | 390 | 0.0026 | 49 | c.720 others(66): Show |
SEPTIN14 | ENSG00000154997.9 | transcript | ENST00000388975.4 | protein_coding | 6/9 | chr7 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158169686 | A | ATATATAT others(42): Show |
upstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0242 | 1 | 366 | 0.0027 | 49 | c.-15 others(60): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1425 | chr6 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158169745 | T | TATAATAT others(42): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 366 | 0.0027 | 49 | c.-16 others(60): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 1484 | chr6 | TogoVar | |||||||
SERBP1_chr1_67402810_67435402 | 67403927 | A | AAAAAAAA others(42): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0050 | a0001c0001t0016g0018 a0001c0001t0050g0236 |
2 | 368 | 0.0054 | 49 | c.*92 others(60): Show |
SERBP1 | ENSG00000142864.15 | transcript | ENST00000361219.11 | protein_coding | 3882 | chr1 | TogoVar | |||||||
SERPINB7_chr18_63770418_63810370 | 63783216 | G | GAGAAAGA others(42): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0384 | 1 | 432 | 0.0023 | 49 | c.168 others(64): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SERPINB7_chr18_63770418_63810370 | 63786099 | G | GTATATAT others(42): Show |
intron_variant | MODIFIER | NA19054.hp2 NA19058.hp1 NA19081.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0217 a0001c0001t0003g0235 a0001c0001t0003g0236 others(1): Show |
4 | 432 | 0.0093 | 49 | c.168 others(66): Show |
SERPINB7 | ENSG00000166396.13 | transcript | ENST00000398019.7 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SESN3_chr11_95160513_95236202 | 95167475 | C | CCCCATAT others(42): Show |
3_prime_UTR_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0074 | 1 | 392 | 0.0026 | 49 | c.*57 others(60): Show |
SESN3 | ENSG00000149212.12 | transcript | ENST00000536441.7 | protein_coding | 10/10 | 5779 | chr11 | TogoVar |