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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBFOX1_chr16_6014024_7718340 | 6372974 | C | CGGATGGG others(302): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0034 | 1 | 68 | 0.0147 | 309 | c.-64 others(328): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6373005 | G | GGTAGGAG others(302): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0033 | 1 | 68 | 0.0147 | 309 | c.-64 others(328): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 6373196 | G | GGAAGTGT others(302): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016 | a0001c0001t0004g0057 a0001c0001t0016g0011 |
2 | 68 | 0.0294 | 309 | c.-64 others(328): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79495482 | A | AGGAAGGT others(302): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 10 | 0.1000 | 309 | c.-31 others(330): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RBMS2_chr12_56516820_56601193 | 56558297 | C | CGGCCTCC others(302): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00639.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0101 a0001c0001t0001g0110 a0001c0001t0001g0121 others(56): Show |
59 | 91 | 0.6484 | 309 | c.67- others(324): Show |
RBMS2 | ENSG00000076067.14 | transcript | ENST00000262031.10 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55064842 | A | ACCTCAGG others(302): Show |
upstream_gene_variant | MODIFIER | NA19075.hp2 | a0010 | a0010c0020 | a0010c0020t0001 | a0010c0020t0001g0216 | 1 | 52 | 0.0192 | 309 | c.-18 others(320): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1695 | chr19 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8386567 | A | AGAACTCT others(302): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 113 | 0.0088 | 309 | c.128 others(330): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8386567 | A | AGAACTCT others(302): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01192.hp2 HG01496.hp1 others(24): Show |
a0001a0002a0009 | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0001g0012 a0001c0001t0003g0087 a0001c0001t0003g0093 others(24): Show |
27 | 139 | 0.1942 | 309 | c.128 others(330): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8386567 | A | AGAACTCT others(302): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0083 | 1 | 113 | 0.0088 | 309 | c.128 others(330): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | |||||||
RESF1_chr12_31954415_31998107 | 31972450 | C | CAAAAAAT others(302): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0016 | a0016c0019 | a0016c0019t0001 | a0016c0019t0001g0320 | 1 | 450 | 0.0022 | 309 | c.-79 others(326): Show |
RESF1 | ENSG00000174718.12 | transcript | ENST00000312561.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
RIMS1_chr6_71881550_72408145 | 72043662 | T | TGCTAATG others(302): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02055.hp1 |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0010 | a0001c0003t0004g0127 a0001c0003t0010g0045 |
2 | 132 | 0.0152 | 309 | c.246 others(328): Show |
RIMS1 | ENSG00000079841.20 | transcript | ENST00000521978.6 | protein_coding | 2/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RNF139_chr8_124469880_124493618 | 124483113 | A | AATATATA others(302): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01167.hp2 HG01169.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 5 | 10 | 0.5000 | 309 | c.182 others(326): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RNF139_chr8_124469880_124493618 | 124483113 | A | AATATATA others(302): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 6 | 0.1667 | 309 | c.182 others(326): Show |
RNF139 | ENSG00000170881.5 | transcript | ENST00000303545.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RNF150_chr4_140854807_141138469 | 141110579 | T | TTTAATTT others(302): Show |
intron_variant | MODIFIER | HG02040.hp1 HG02040.hp2 NA18945.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0017others(4): Show | a0001c0001t0002g0160 a0001c0001t0013g0158 a0001c0001t0017g0154 others(4): Show |
7 | 165 | 0.0424 | 309 | c.484 others(328): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
RNF152_chr18_61803067_61898007 | 61897584 | T | TAAGAAAT others(302): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0065 | a0001c0002t0065g0096 | 1 | 293 | 0.0034 | 309 | c.-49 others(320): Show |
RNF152 | ENSG00000176641.11 | transcript | ENST00000312828.4 | protein_coding | 4578 | chr18 | TogoVar | |||||||
RNF220_chr1_44400255_44656723 | 44468135 | T | TAAAAAAA others(302): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0060 a0001c0001t0002g0028 others(2): Show |
5 | 181 | 0.0276 | 309 | c.625 others(328): Show |
RNF220 | ENSG00000187147.19 | transcript | ENST00000361799.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RNF220_chr1_44400255_44656723 | 44528615 | T | TTTTTTTT others(302): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0181 | 1 | 218 | 0.0046 | 309 | c.626 others(328): Show |
RNF220 | ENSG00000187147.19 | transcript | ENST00000361799.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ROCK2_chr2_11174759_11349636 | 11286234 | T | TTAAGCAG others(302): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0210 | 1 | 91 | 0.0110 | 309 | c.324 others(324): Show |
ROCK2 | ENSG00000134318.16 | transcript | ENST00000315872.11 | protein_coding | 3/32 | chr2 | TogoVar | |||||||
RTF1_chr15_41412095_41488563 | 41430010 | T | TTTTTTTT others(302): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0180 | 1 | 199 | 0.0050 | 309 | c.199 others(326): Show |
RTF1 | ENSG00000137815.15 | transcript | ENST00000389629.9 | protein_coding | 1/17 | chr15 | TogoVar | |||||||
RUNDC3B_chr7_87623398_87837296 | 87626252 | T | TATATATT others(302): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 192 | 0.0052 | 309 | c.-25 others(320): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 2145 | chr7 | TogoVar | |||||||
RXFP1_chr4_158516882_158658372 | 158628943 | T | TAAGGCCG others(302): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 148 | 0.0068 | 309 | c.899 others(324): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXFP1_chr4_158516882_158658372 | 158628943 | T | TAAGGCCG others(302): Show |
intron_variant | MODIFIER | HG03669.hp1 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0156 |
2 | 149 | 0.0134 | 309 | c.899 others(324): Show |
RXFP1 | ENSG00000171509.16 | transcript | ENST00000307765.10 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134444377 | C | CCCTCCTT others(302): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 5 | 0.2000 | 309 | c.*77 others(320): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 3793 | chr9 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237804311 | A | ACCTCAGT others(302): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0030 | a0001c0030t0005 | a0001c0030t0005g0053 | 1 | 78 | 0.0128 | 309 | c.141 others(330): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 98/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934213 | G | GGCTGCGT others(302): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0200 | 1 | 417 | 0.0024 | 309 | c.843 others(326): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SBSPON_chr8_73059543_73098172 | 73067663 | A | AGGCTGGG others(302): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 179 | 0.0056 | 309 | c.678 others(324): Show |
SBSPON | ENSG00000164764.11 | transcript | ENST00000297354.7 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
SBSPON_chr8_73059543_73098172 | 73067663 | A | AGGCTGGG others(302): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0121 | 1 | 179 | 0.0056 | 309 | c.678 others(324): Show |
SBSPON | ENSG00000164764.11 | transcript | ENST00000297354.7 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
SCP2_chr1_52922276_53056698 | 52923161 | T | TAAAAAAA others(302): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0008 | a0001c0001t0006g0036 a0001c0004t0008g0044 |
2 | 263 | 0.0076 | 309 | c.-42 others(320): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 4114 | chr1 | TogoVar | |||||||
SCYGR2_chr2_227593893_227604255 | 227601500 | T | TAGATTTG others(302): Show |
downstream_gene_variant | MODIFIER | NA20905.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0000 | 1 | 438 | 0.0023 | 309 | c.*22 others(320): Show |
SCYGR2 | ENSG00000284643.1 | transcript | ENST00000641394.1 | protein_coding | 2246 | chr2 | TogoVar | |||||||
SEMA6A_chr5_116438555_116579823 | 116496201 | C | CAAAAACT others(302): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 299 | 0.0033 | 309 | c.342 others(322): Show |
SEMA6A | ENSG00000092421.17 | transcript | ENST00000343348.11 | protein_coding | 5/18 | chr5 | TogoVar | |||||||
SERAC1_chr6_158104519_158173262 | 158127371 | T | TGGGGGGG others(302): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG01243.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0083 a0001c0001t0001g0151 a0001c0001t0001g0152 others(11): Show |
14 | 354 | 0.0395 | 309 | c.101 others(326): Show |
SERAC1 | ENSG00000122335.17 | transcript | ENST00000647468.2 | protein_coding | 10/16 | chr6 | TogoVar | |||||||
SERPINB6_chr6_2943159_2976567 | 2972360 | C | CAAGAAAC others(302): Show |
upstream_gene_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0012 | 1 | 298 | 0.0034 | 309 | c.-83 others(318): Show |
SERPINB6 | ENSG00000124570.21 | transcript | ENST00000380539.7 | protein_coding | 794 | chr6 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37967099 | T | TAGAAAAA others(302): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0199 | 1 | 18 | 0.0556 | 309 | c.137 others(326): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SF3A3_chr1_37951975_37995022 | 37967099 | T | TAGAAAAA others(302): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010 | a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0004g0021 others(5): Show |
8 | 25 | 0.3200 | 309 | c.137 others(326): Show |
SF3A3 | ENSG00000183431.12 | transcript | ENST00000373019.5 | protein_coding | 15/16 | chr1 | TogoVar | |||||||
SH3BGRL2_chr6_79626329_79708655 | 79689230 | T | TAAAAATT others(302): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01358.hp2 NA18971.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0014g0023 |
4 | 344 | 0.0116 | 309 | c.232 others(326): Show |
SH3BGRL2 | ENSG00000198478.8 | transcript | ENST00000369838.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401552 | G | GCCCGCTC others(302): Show |
downstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 67 | 0.0149 | 309 | c.*43 others(320): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4163 | chr11 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232452014 | T | TAAAAATG others(302): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0132 a0001c0002t0001g0133 |
2 | 166 | 0.0120 | 309 | c.309 others(328): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 10/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232452014 | T | TAAAAATG others(302): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0002 | a0002c0023 | a0002c0023t0002 | a0002c0023t0002g0071 | 1 | 165 | 0.0061 | 309 | c.309 others(328): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 10/22 | chr1 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48427627 | T | TAAAAGCA others(302): Show |
intron_variant | MODIFIER | HG01106.hp2 HG02148.hp1 HG02897.hp1 |
a0001a0002 | a0001c0005a0002c0004 | a0001c0005t0001a0002c0004t0001 | a0001c0005t0001g0232 a0002c0004t0001g0230 a0002c0004t0001g0231 |
3 | 205 | 0.0146 | 309 | c.46+ others(324): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1073202 | C | CATCACAC others(302): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0038 | a0002c0038t0014 | a0002c0038t0014g0118 | 1 | 115 | 0.0087 | 309 | c.224 others(326): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC22A16_chr6_110419687_110481613 | 110473739 | A | ATGGTCTC others(302): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(78): Show |
a0001a0002a0009others(3): Show | a0001c0001a0002c0002a0002c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0242 others(76): Show |
81 | 413 | 0.1961 | 309 | c.53+ others(324): Show |
SLC22A16 | ENSG00000004809.14 | transcript | ENST00000368919.8 | protein_coding | 1/7 | chr6 | TogoVar | |||||||
SLC35F1_chr6_117902264_118322671 | 118304985 | C | CAGTCAAA others(302): Show |
intron_variant | MODIFIER | HG06807.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0025 | a0001c0001t0011g0154 a0001c0001t0025g0157 |
2 | 71 | 0.0282 | 309 | c.100 others(328): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC45A4_chr8_141202174_141313288 | 141203505 | G | GGAGAGAG others(302): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0167 | 1 | 71 | 0.0141 | 309 | c.*80 others(320): Show |
SLC45A4 | ENSG00000022567.10 | transcript | ENST00000517878.6 | protein_coding | 3668 | chr8 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 91957026 | A | ATAATATA others(302): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0067 | 1 | 131 | 0.0076 | 309 | c.646 others(328): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | chr15 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 92029813 | T | TCATACAT others(302): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG01255.hp1 others(16): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(11): Show | a0001c0001t0001g0028 a0001c0001t0001g0080 a0001c0001t0003g0020 others(16): Show |
19 | 154 | 0.1234 | 309 | c.647 others(328): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLCO3A1_chr15_91848708_92170903 | 92143399 | A | ATAATATA others(302): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0089 | 1 | 165 | 0.0061 | 309 | c.151 others(328): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 7/9 | chr15 | TogoVar | |||||||
SNRNP70_chr19_49080451_49113604 | 49092919 | T | TTTGTTTT others(302): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01175.hp2 HG01981.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0035 a0001c0001t0001g0059 a0001c0001t0001g0213 others(1): Show |
5 | 320 | 0.0156 | 309 | c.265 others(326): Show |
SNRNP70 | ENSG00000104852.15 | transcript | ENST00000598441.6 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 965349 | G | GTCCTCCT others(302): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG02976.hp2 |
a0003a0006a0010 | a0003c0008a0006c0010a0010c0013 | a0003c0008t0001a0006c0010t0001a0010c0013t0001 | a0003c0008t0001g0044 a0006c0010t0001g0043 a0010c0013t0001g0042 |
3 | 182 | 0.0165 | 309 | c.72+ others(326): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1056959 | A | AGGGAGGG others(302): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0116 | 1 | 166 | 0.0060 | 309 | c.73- others(326): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SOCS5_chr2_46694295_46768129 | 46701811 | T | TTTTTTTT others(302): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0157 a0001c0001t0004g0133 |
2 | 130 | 0.0154 | 309 | c.-13 others(326): Show |
SOCS5 | ENSG00000171150.9 | transcript | ENST00000394861.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |