| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| RBPMS_chr8_30379541_30577256 | 30445649 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02717.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0034a0001c0001t0001g0237a0001c0001t0001g0291others(3): Show | 6 | 304 | 0.0197 | 30 | c.67- others(47): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RC3H1_chr1_173926084_174027357 | 173929831 | T | TTTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG02165.hp2 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0097 | a0001c0001t0023g0029a0001c0001t0023g0048a0001c0001t0097g0017 | 3 | 310 | 0.0097 | 30 | c.*88 others(41): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 1252 | chr1 | TogoVar | ||||||
| RC3H1_chr1_173926084_174027357 | 173942428 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0082 | a0001c0001t0082g0289 | 1 | 310 | 0.0032 | 30 | c.313 others(49): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 18/19 | chr1 | TogoVar | ||||||
| RCAN2_chr6_46215736_46496449 | 46296235 | C | CATCAGTC others(23): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02572.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0044a0001c0001t0002g0038a0001c0001t0004g0101others(9): Show | 12 | 158 | 0.0760 | 30 | c.226 others(49): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
| RCAN2_chr6_46215736_46496449 | 46367022 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG01358.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0126a0001c0001t0001g0137a0001c0001t0001g0145others(3): Show | 6 | 158 | 0.0380 | 30 | c.225 others(49): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
| RCAN3_chr1_24497836_24546040 | 24511382 | A | ATGTATTC others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03098.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0151a0001c0001t0004g0168a0001c0001t0004g0170 | 3 | 332 | 0.0090 | 30 | c.-59 others(47): Show |
RCAN3 | ENSG00000117602.13 | transcript | ENST00000374395.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RCBTB1_chr13_49526946_49590558 | 49585657 | C | CGCCCCGG others(23): Show |
upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0366 | 1 | 418 | 0.0024 | 30 | c.-33 others(39): Show |
RCBTB1 | ENSG00000136144.12 | transcript | ENST00000378302.7 | protein_coding | 100 | chr13 | TogoVar | ||||||
| RCBTB2_chr13_48483963_48538080 | 48493225 | T | TCACACAC others(23): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0043 | 1 | 320 | 0.0031 | 30 | c.151 others(49): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 14/14 | chr13 | TogoVar | ||||||
| RCBTB2_chr13_48483963_48538080 | 48493311 | A | ACTCTCTC others(23): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 320 | 0.0031 | 30 | c.151 others(49): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 14/14 | chr13 | TogoVar | ||||||
| RCBTB2_chr13_48483963_48538080 | 48493313 | A | ACTCTCTC others(23): Show |
intron_variant | MODIFIER | NA18960.hp1 NA18968.hp1 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111a0001c0001t0001g0113a0001c0001t0001g0115 | 3 | 320 | 0.0094 | 30 | c.151 others(49): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 14/14 | chr13 | TogoVar | ||||||
| RCBTB2_chr13_48483963_48538080 | 48496790 | A | AGAGGGGA others(23): Show |
intron_variant | MODIFIER | HG02630.hp1 NA19030.hp2 NA19240.hp2 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0298a0002c0006t0001g0299a0002c0006t0001g0300 | 3 | 320 | 0.0094 | 30 | c.138 others(47): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 13/14 | chr13 | TogoVar | ||||||
| RCBTB2_chr13_48483963_48538080 | 48496790 | A | AGAGGGGA others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02818.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0026a0001c0001t0001g0029a0001c0001t0001g0032others(1): Show | 4 | 320 | 0.0125 | 30 | c.138 others(47): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 13/14 | chr13 | TogoVar | ||||||
| RCBTB2_chr13_48483963_48538080 | 48527369 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 320 | 0.0031 | 30 | c.-21 others(49): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 1/14 | chr13 | TogoVar | ||||||
| RCC1L_chr7_75037183_75078802 | 75072149 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0025 | 1 | 270 | 0.0037 | 30 | c.324 others(47): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
| RCC1L_chr7_75037183_75078802 | 75072155 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02735.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029a0002c0002t0002g0030 | 2 | 270 | 0.0074 | 30 | c.324 others(47): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
| RCC2_chr1_17401760_17444677 | 17431359 | A | AAAATATA others(23): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02148.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0195a0001c0002t0002g0196 | 2 | 390 | 0.0051 | 30 | c.286 others(47): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
| RCC2_chr1_17401760_17444677 | 17431359 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02293.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0192a0001c0002t0002g0193 | 2 | 390 | 0.0051 | 30 | c.286 others(47): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | ||||||
| RCHY1_chr4_75474033_75519403 | 75487485 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03130.hp2 HG03669.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0262others(7): Show | 12 | 406 | 0.0296 | 30 | c.657 others(47): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 8/8 | chr4 | TogoVar | ||||||
| RCSD1_chr1_167625232_167713696 | 167630721 | T | TAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 350 | 0.0029 | 30 | c.6+2 others(41): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RDH10_chr8_73289602_73330281 | 73315159 | T | TCCCCCCC others(23): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0212 | 1 | 396 | 0.0025 | 30 | c.526 others(47): Show |
RDH10 | ENSG00000121039.10 | transcript | ENST00000240285.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RDX_chr11_110224441_110301614 | 110289956 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02293.hp2 HG02451.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0203a0001c0001t0001g0204a0001c0001t0001g0205others(3): Show | 6 | 376 | 0.0160 | 30 | c.-65 others(47): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 1/13 | chr11 | TogoVar | ||||||
| RECK_chr9_36031913_36129455 | 36048126 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02559.hp1 HG02572.hp2 others(10): Show |
a0001a0003a0007 | a0001c0001a0003c0006a0007c0009 | a0001c0001t0001a0001c0001t0002a0003c0006t0003others(1): Show | a0001c0001t0001g0205a0001c0001t0001g0284a0001c0001t0001g0303others(10): Show | 13 | 392 | 0.0332 | 30 | c.101 others(47): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| RECK_chr9_36031913_36129455 | 36082152 | T | TTCTCTCT others(23): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070 | 1 | 392 | 0.0026 | 30 | c.440 others(47): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| RECQL4_chr8_144506288_144522833 | 144511181 | G | GGTCAATA others(23): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0022 | a0002c0022t0001 | a0002c0022t0001g0034 | 1 | 412 | 0.0024 | 30 | c.*22 others(39): Show |
RECQL4 | ENSG00000160957.15 | transcript | ENST00000617875.6 | protein_coding | 106 | chr8 | TogoVar | ||||||
| RECQL4_chr8_144506288_144522833 | 144513791 | C | CGTGGGGA others(23): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 412 | 0.0024 | 30 | c.205 others(45): Show |
RECQL4 | ENSG00000160957.15 | transcript | ENST00000617875.6 | protein_coding | 12/20 | chr8 | TogoVar | ||||||
| REEP1_chr2_86208993_86342626 | 86226087 | C | CCACCACC others(23): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03225.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0020 | a0001c0001t0006g0046a0001c0001t0006g0305a0001c0001t0020g0157 | 3 | 320 | 0.0094 | 30 | c.631 others(47): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 7/8 | chr2 | TogoVar | ||||||
| REEP1_chr2_86208993_86342626 | 86226096 | C | CCACCACC others(23): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0088 | 1 | 320 | 0.0031 | 30 | c.631 others(47): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 7/8 | chr2 | TogoVar | ||||||
| REEP3_chr10_63516401_63630128 | 63521335 | C | CGGCGGGC others(23): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0222 | 1 | 284 | 0.0035 | 30 | c.-21 others(39): Show |
REEP3 | ENSG00000165476.14 | transcript | ENST00000373758.5 | protein_coding | 65 | chr10 | TogoVar | ||||||
| REEP6_chr19_1486181_1502927 | 1493708 | G | GACACACA others(23): Show |
intron_variant | MODIFIER | NA19066.hp1 NA19080.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0026a0001c0001t0002g0080 | 3 | 318 | 0.0094 | 30 | c.116 others(47): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| REEP6_chr19_1486181_1502927 | 1500696 | G | GAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 318 | 0.0031 | 30 | c.*34 others(41): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2770 | chr19 | TogoVar | ||||||
| RELB_chr19_44996464_45043192 | 45011797 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 382 | 0.0026 | 30 | c.164 others(45): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| RELB_chr19_44996464_45043192 | 45011797 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 382 | 0.0026 | 30 | c.164 others(45): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| RELN_chr7_103466789_103994658 | 103489215 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19030.hp1 |
a0001a0011 | a0001c0041a0011c0082 | a0001c0041t0016a0011c0082t0006 | a0001c0041t0016g0035a0011c0082t0006g0151 | 2 | 184 | 0.0109 | 30 | c.976 others(47): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 60/64 | chr7 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103522838 | G | GACACACA others(23): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00558.hp1 others(94): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0002a0001c0004others(43): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(63): Show | a0001c0001t0001g0129a0001c0001t0004g0160a0001c0001t0013g0164others(94): Show | 97 | 184 | 0.5272 | 30 | c.749 others(47): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 47/64 | chr7 | TogoVar | ||||||
| RELN_chr7_103466789_103994658 | 103522851 | A | ACAGACAC others(23): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0166 | 1 | 184 | 0.0054 | 30 | c.749 others(47): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 47/64 | chr7 | TogoVar | ||||||
| REM1_chr20_31470288_31489895 | 31486392 | C | CGAGAGAG others(23): Show |
downstream_gene_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021 | 1 | 344 | 0.0029 | 30 | c.*19 others(41): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 1498 | chr20 | TogoVar | ||||||
| REPS2_chrX_16941658_17158272 | 17093166 | C | CTATATAT others(23): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0014 | 1 | 166 | 0.0060 | 30 | c.151 others(51): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| RER1_chr1_2386841_2410436 | 2401386 | C | CCCTCCTC others(23): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 354 | 0.0028 | 30 | c.365 others(45): Show |
RER1 | ENSG00000157916.20 | transcript | ENST00000605895.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| RERE_chr1_8347404_8822640 | 8372507 | C | CGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 204 | 0.0049 | 30 | c.128 others(49): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 12/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8516227 | G | GAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0022 | a0001c0022t0008 | a0001c0022t0008g0082 | 1 | 204 | 0.0049 | 30 | c.831 others(47): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 7/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8559280 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 204 | 0.0049 | 30 | c.523 others(47): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 4/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8789301 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01934.hp1 NA19002.hp2 |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0008a0002c0006t0003 | a0001c0003t0008g0085a0002c0006t0003g0091 | 2 | 204 | 0.0098 | 30 | c.-14 others(51): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8789301 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0099 | 1 | 204 | 0.0049 | 30 | c.-14 others(51): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
| RERE_chr1_8347404_8822640 | 8789301 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0004 | a0001c0004t0014 | a0001c0004t0014g0126 | 1 | 204 | 0.0049 | 30 | c.-14 others(51): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
| RERG_chr12_15102783_15226417 | 15126128 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0091 | 1 | 300 | 0.0033 | 30 | c.62- others(45): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| RERG_chr12_15102783_15226417 | 15133146 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0113 | 1 | 300 | 0.0033 | 30 | c.62- others(47): Show |
RERG | ENSG00000134533.6 | transcript | ENST00000256953.6 | protein_coding | 2/4 | chr12 | TogoVar | ||||||
| REST_chr4_56902900_56940844 | 56905329 | A | AATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 HG01433.hp1 HG01928.hp2 others(11): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0003g0002a0001c0001t0003g0020a0001c0001t0003g0068others(10): Show | 14 | 408 | 0.0343 | 30 | c.-28 others(41): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 2570 | chr4 | TogoVar | ||||||
| REST_chr4_56902900_56940844 | 56905347 | T | TATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG01993.hp1 HG02132.hp1 HG03688.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0007a0002c0002t0012others(1): Show | a0002c0002t0001g0050a0002c0002t0001g0217a0002c0002t0001g0246others(3): Show | 6 | 408 | 0.0147 | 30 | c.-28 others(41): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 2552 | chr4 | TogoVar | ||||||
| REST_chr4_56902900_56940844 | 56905348 | A | ATATATAT others(23): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(6): Show |
a0004 | a0004c0004a0004c0008 | a0004c0004t0005a0004c0008t0009 | a0004c0004t0005g0021a0004c0004t0005g0041a0004c0004t0005g0193others(5): Show | 9 | 408 | 0.0221 | 30 | c.-28 others(41): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 2551 | chr4 | TogoVar | ||||||
| REV3L_chr6_111294033_111488218 | 111422599 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 288 | 0.0035 | 30 | c.140 others(47): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar |