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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RCC1_chr1_28501043_28543989 | 28543239 | A | AAATATAT others(14): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG01952.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0001 a0001c0002t0003g0043 |
2 | 120 | 0.0167 | 21 | c.*52 others(32): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4251 | chr1 | TogoVar | |||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0293 | 1 | 144 | 0.0069 | 21 | c.286 others(38): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | AAAAATAT others(14): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0311 | 1 | 144 | 0.0069 | 21 | c.286 others(38): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0316 | 1 | 144 | 0.0069 | 21 | c.286 others(38): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | ATAAAAAT others(14): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02615.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0034 | a0001c0001t0009g0029 a0001c0001t0009g0030 a0001c0001t0034g0207 |
4 | 147 | 0.0272 | 21 | c.286 others(38): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | ATAAATAT others(14): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0030 a0001c0001t0009g0238 |
2 | 145 | 0.0138 | 21 | c.286 others(38): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
RCOR1_chr14_102587649_102735561 | 102653983 | C | CTTTCTTT others(14): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 207 | 0.0048 | 21 | c.362 others(40): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102653986 | T | TCTTTCTT others(14): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 288 | 0.0035 | 21 | c.362 others(40): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | chr14 | TogoVar | |||||||
RCSD1_chr1_167625232_167713696 | 167627369 | C | CTTTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0145 | 1 | 162 | 0.0062 | 21 | c.-30 others(32): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 2862 | chr1 | TogoVar | |||||||
RCSD1_chr1_167625232_167713696 | 167630721 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 16 | 0.0625 | 21 | c.6+3 others(32): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RDH13_chr19_55039316_55068148 | 55063061 | A | AGGCGTCA others(14): Show |
5_prime_UTR_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0040 | 1 | 33 | 0.0303 | 21 | c.-30 others(28): Show |
RDH13 | ENSG00000160439.16 | transcript | ENST00000415061.8 | protein_coding | 1/7 | 30 | chr19 | TogoVar | ||||||
RDX_chr11_110224441_110301614 | 110289956 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 | 1 | 93 | 0.0108 | 21 | c.-65 others(38): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
REC114_chr15_73438164_73565013 | 73559971 | C | CCTAAAAT others(14): Show |
3_prime_UTR_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0027 | 1 | 186 | 0.0054 | 21 | c.*56 others(28): Show |
REC114 | ENSG00000183324.11 | transcript | ENST00000331090.11 | protein_coding | 6/6 | 77 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
REEP1_chr2_86208993_86342626 | 86288032 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02717.hp1 HG02809.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0003a0001c0001t0021a0001c0001t0036others(2): Show | a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 others(6): Show |
9 | 307 | 0.0293 | 21 | c.33- others(36): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
REEP3_chr10_63516401_63630128 | 63533710 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01099.hp1 HG01123.hp1 others(23): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 others(23): Show |
26 | 174 | 0.1494 | 21 | c.32+ others(38): Show |
REEP3 | ENSG00000165476.14 | transcript | ENST00000373758.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
REEP5_chr5_112871385_112927227 | 112893094 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0306 | 1 | 114 | 0.0088 | 21 | c.352 others(38): Show |
REEP5 | ENSG00000129625.13 | transcript | ENST00000379638.9 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
RELB_chr19_44996464_45043192 | 45011797 | T | TGTGTGTG others(14): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 65 | 0.0154 | 21 | c.164 others(36): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RELCH_chr18_62182255_62315249 | 62255286 | A | AAGTGGAA others(14): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 338 | 0.0030 | 21 | c.182 others(37): Show |
RELCH | ENSG00000134444.15 | transcript | ENST00000644646.2 | protein_coding | 12/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RELCH_chr18_62182255_62315249 | 62315054 | G | GATACTTC others(14): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(142): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(20): Show | a0001c0001t0001g0140 a0001c0001t0001g0214 a0001c0001t0001g0215 others(138): Show |
145 | 338 | 0.4290 | 21 | c.*95 others(32): Show |
RELCH | ENSG00000134444.15 | transcript | ENST00000644646.2 | protein_coding | 4806 | chr18 | TogoVar | |||||||
RELL1_chr4_37605634_37691376 | 37605783 | G | GAGAGAGA others(14): Show |
downstream_gene_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0062 | 1 | 320 | 0.0031 | 21 | c.*75 others(32): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 4850 | chr4 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103518505 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0020 | 1 | 59 | 0.0169 | 21 | c.786 others(38): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 49/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103708464 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0070 | a0001c0070t0001 | a0001c0070t0001g0120 | 1 | 94 | 0.0106 | 21 | c.806 others(38): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 8/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103816530 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0067 | a0001c0067t0018 | a0001c0067t0018g0025 | 1 | 24 | 0.0417 | 21 | c.473 others(40): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 3/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103977310 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02109.hp1 HG06807.hp1 NA19043.hp2 |
a0001a0008a0012 | a0001c0003a0008c0055a0012c0053 | a0001c0003t0002a0008c0055t0002a0012c0053t0002 | a0001c0003t0002g0018 a0008c0055t0002g0021 a0012c0053t0002g0022 |
3 | 37 | 0.0811 | 21 | c.226 others(40): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103989356 | T | TGCCGCCG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG02083.hp1 others(2): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0005a0001c0003t0005a0001c0004t0005others(2): Show | a0001c0002t0005g0183 a0001c0003t0005g0180 a0001c0004t0005g0179 others(2): Show |
5 | 38 | 0.1316 | 21 | c.-21 others(27): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/65 | 1 | chr7 | TogoVar | ||||||
REM1_chr20_31470288_31489895 | 31470357 | C | CGGGGTGG others(14): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 339 | 0.0029 | 21 | c.-52 others(32): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 4930 | chr20 | TogoVar | |||||||
REM1_chr20_31470288_31489895 | 31472439 | A | AGGGAGAG others(14): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 260 | 0.0038 | 21 | c.-31 others(32): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 2848 | chr20 | TogoVar | |||||||
REM2_chr14_22878222_22892678 | 22888998 | T | TAAAAAAA others(14): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 50 | 0.0200 | 21 | c.*20 others(32): Show |
REM2 | ENSG00000139890.10 | transcript | ENST00000267396.9 | protein_coding | 1321 | chr14 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138907313 | A | AAGTGTGT others(14): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0056 | 1 | 89 | 0.0112 | 21 | c.232 others(38): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 19/19 | chr6 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138955457 | A | AAGTGTGT others(14): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01496.hp1 NA19084.hp1 |
a0001a0009 | a0001c0001a0009c0008 | a0001c0001t0001a0009c0008t0001 | a0001c0001t0001g0112 a0001c0001t0001g0279 a0009c0008t0001g0140 |
3 | 63 | 0.0476 | 21 | c.154 others(38): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
REPS1_chr6_138898493_138993253 | 138969269 | A | ATTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01496.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 a0001c0001t0001g0117 a0001c0001t0001g0153 others(1): Show |
4 | 52 | 0.0769 | 21 | c.153 others(40): Show |
REPS1 | ENSG00000135597.19 | transcript | ENST00000450536.7 | protein_coding | 1/19 | chr6 | TogoVar | |||||||
REPS2_chrX_16941658_17158272 | 16946753 | T | TGGCGGCG others(14): Show |
5_prime_UTR_variant | MODIFIER | HG02258.hp1 HG02922.hp2 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010 | a0001c0001t0009g0115 a0001c0001t0009g0139 a0001c0001t0010g0137 others(1): Show |
4 | 159 | 0.0252 | 21 | c.-10 others(29): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/18 | 87 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
REPS2_chrX_16941658_17158272 | 17093200 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02735.hp1 HG02886.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0019 a0001c0001t0001g0080 a0001c0001t0001g0124 others(6): Show |
9 | 112 | 0.0804 | 21 | c.151 others(42): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | chrX | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8512014 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01168.hp2 NA19070.hp2 |
a0001 | a0001c0003a0001c0007a0001c0009 | a0001c0003t0004a0001c0007t0004a0001c0009t0004 | a0001c0003t0004g0034 a0001c0007t0004g0046 a0001c0009t0004g0019 |
3 | 36 | 0.0833 | 21 | c.831 others(38): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8516227 | G | GAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA20129.hp1 NA20905.hp2 |
a0001a0009 | a0001c0001a0009c0017 | a0001c0001t0003a0009c0017t0003 | a0001c0001t0003g0095 a0009c0017t0003g0101 |
2 | 33 | 0.0606 | 21 | c.831 others(38): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8545982 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0005 | a0001c0005t0026 | a0001c0005t0026g0127 | 1 | 29 | 0.0345 | 21 | c.726 others(38): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 6/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8559280 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01261.hp1 HG01884.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0002t0005others(1): Show | a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 others(5): Show |
8 | 36 | 0.2222 | 21 | c.523 others(38): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8604442 | A | AGGCAGAG others(14): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01981.hp1 HG02602.hp2 others(2): Show |
a0001a0002a0004 | a0001c0004a0002c0006a0002c0026others(1): Show | a0001c0004t0005a0002c0006t0003a0002c0026t0008others(1): Show | a0001c0004t0005g0122 a0002c0006t0003g0139 a0002c0026t0008g0140 others(2): Show |
5 | 202 | 0.0248 | 21 | c.522 others(40): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8607534 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03139.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0003t0011a0001c0005t0019 | a0001c0001t0001g0072 a0001c0003t0011g0108 a0001c0005t0019g0029 |
3 | 17 | 0.1765 | 21 | c.522 others(38): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8789301 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02109.hp2 HG02886.hp1 others(2): Show |
a0001a0006 | a0001c0002a0006c0021 | a0001c0002t0005a0001c0002t0028a0006c0021t0003 | a0001c0002t0005g0129 a0001c0002t0005g0132 a0001c0002t0005g0136 others(2): Show |
5 | 44 | 0.1136 | 21 | c.-14 others(42): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8789301 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0131 | 1 | 40 | 0.0250 | 21 | c.-14 others(42): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8789301 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0004 | a0001c0004t0040 | a0001c0004t0040g0199 | 1 | 40 | 0.0250 | 21 | c.-14 others(42): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8789301 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0109 | 1 | 40 | 0.0250 | 21 | c.-14 others(42): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERE_chr1_8347404_8822640 | 8809157 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0119 | 1 | 187 | 0.0053 | 21 | c.-14 others(40): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | |||||||
RERG_chr12_15102783_15226417 | 15126156 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | NA19011.hp1 NA19011.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0133 a0001c0002t0001g0134 |
2 | 294 | 0.0068 | 21 | c.62- others(36): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | |||||||
REST_chr4_56902900_56940844 | 56907875 | T | TGGCGGCG others(14): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02622.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0031 | a0002c0002t0001g0025 a0002c0002t0031g0213 |
4 | 162 | 0.0247 | 21 | c.-34 others(30): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 24 | chr4 | TogoVar | |||||||
RETN_chr19_7664049_7675455 | 7674859 | C | CTTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 NA18945.hp2 NA18953.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show |
7 | 56 | 0.1250 | 21 | c.*45 others(32): Show |
RETN | ENSG00000104918.8 | transcript | ENST00000221515.6 | protein_coding | 4405 | chr19 | TogoVar | |||||||
RETREG3_chr17_42574515_42614374 | 42596359 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0151 | 1 | 8 | 0.1250 | 21 | c.240 others(38): Show |
RETREG3 | ENSG00000141699.11 | transcript | ENST00000309428.10 | protein_coding | 1/8 | chr17 | TogoVar | |||||||
RET_chr10_43072069_43135351 | 43075268 | A | ACCTTTTT others(14): Show |
upstream_gene_variant | MODIFIER | NA18988.hp1 | a0004 | a0004c0010 | a0004c0010t0002 | a0004c0010t0002g0033 | 1 | 380 | 0.0026 | 21 | c.-19 others(32): Show |
RET | ENSG00000165731.21 | transcript | ENST00000355710.8 | protein_coding | 1800 | chr10 | TogoVar | |||||||
REXO5_chr16_20801527_20854665 | 20820512 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 304 | 0.0033 | 21 | c.476 others(38): Show |
REXO5 | ENSG00000005189.20 | transcript | ENST00000261377.11 | protein_coding | 5/19 | chr16 | TogoVar |