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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RBM24_chr6_17276361_17298871 | 17295021 | C | CTATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG02109.hp1 HG02129.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(7): Show |
14 | 442 | 0.0317 | 26 | c.*29 others(37): Show |
RBM24 | ENSG00000112183.15 | transcript | ENST00000379052.10 | protein_coding | 1151 | chr6 | TogoVar | |||||||
RBM25_chr14_73053534_73128899 | 73105038 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01070.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0336 a0001c0001t0004g0315 a0001c0001t0004g0316 others(5): Show |
8 | 388 | 0.0206 | 26 | c.115 others(43): Show |
RBM25 | ENSG00000119707.14 | transcript | ENST00000261973.12 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RBM27_chr5_146198605_146294223 | 146211464 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0250 |
3 | 272 | 0.0110 | 26 | c.60- others(41): Show |
RBM27 | ENSG00000091009.8 | transcript | ENST00000265271.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RBM33_chr7_155639661_155786480 | 155673940 | G | GTTGTTGT others(19): Show |
intron_variant | MODIFIER | HG01070.hp1 NA18980.hp1 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0033 | a0002c0001t0001g0010 a0002c0001t0033g0054 |
2 | 306 | 0.0065 | 26 | c.171 others(43): Show |
RBM33 | ENSG00000184863.11 | transcript | ENST00000401878.8 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
RBM42_chr19_35624036_35642685 | 35638908 | C | CAAAAAAA others(19): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 HG03139.hp1 NA19059.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0084 |
3 | 428 | 0.0070 | 26 | c.*13 others(37): Show |
RBM42 | ENSG00000126254.12 | transcript | ENST00000262633.9 | protein_coding | 1224 | chr19 | TogoVar | |||||||
RBM47_chr4_40418280_40634864 | 40437090 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02083.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0014a0001c0001t0048a0002c0002t0023 | a0001c0001t0014g0214 a0001c0001t0048g0269 a0002c0002t0023g0220 |
3 | 278 | 0.0108 | 26 | c.112 others(43): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 4/6 | chr4 | TogoVar | |||||||
RBM47_chr4_40418280_40634864 | 40498054 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0269 | 1 | 278 | 0.0036 | 26 | c.-15 others(47): Show |
RBM47 | ENSG00000163694.15 | transcript | ENST00000295971.12 | protein_coding | 2/6 | chr4 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160311228 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG01081.hp2 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0030 | a0001c0002t0001g0183 a0001c0002t0001g0191 a0001c0002t0001g0193 others(9): Show |
12 | 328 | 0.0366 | 26 | c.402 others(43): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 4/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160311234 | A | ATCTATAT others(19): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02630.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0032 | a0001c0001t0007g0143 a0001c0001t0007g0144 a0001c0001t0007g0145 others(5): Show |
8 | 328 | 0.0244 | 26 | c.402 others(43): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 4/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160311234 | A | ATCTATAT others(19): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01167.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 others(2): Show |
5 | 328 | 0.0152 | 26 | c.402 others(43): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 4/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160471691 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 328 | 0.0031 | 26 | c.75+ others(43): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160471691 | G | GTGTATAT others(19): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0325 | 1 | 328 | 0.0031 | 26 | c.75+ others(43): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160471691 | G | GTGTGTAT others(19): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0269 a0001c0001t0004g0270 |
2 | 328 | 0.0061 | 26 | c.75+ others(43): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
RBMS1_chr2_160267151_160498807 | 160471716 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00738.hp1 HG02293.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 others(3): Show |
6 | 328 | 0.0183 | 26 | c.75+ others(43): Show |
RBMS1 | ENSG00000153250.21 | transcript | ENST00000348849.8 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
RBMS2_chr12_56516820_56601193 | 56597637 | G | GACACACA others(19): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0223 a0001c0002t0004g0224 |
2 | 280 | 0.0071 | 26 | c.*85 others(37): Show |
RBMS2 | ENSG00000076067.14 | transcript | ENST00000262031.10 | protein_coding | 1445 | chr12 | TogoVar | |||||||
RBMS3_chr3_29276071_30015386 | 29444788 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0088 | 1 | 116 | 0.0086 | 26 | c.248 others(43): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29514650 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0080 | 1 | 116 | 0.0086 | 26 | c.307 others(45): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29691947 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 116 | 0.0086 | 26 | c.400 others(45): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29691947 | C | CTCTCTCT others(19): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0002 | a0001c0002t0086 | a0001c0002t0086g0068 | 1 | 116 | 0.0086 | 26 | c.400 others(45): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29779706 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01928.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0023a0001c0001t0032 | a0001c0001t0016g0064 a0001c0001t0023g0054 a0001c0001t0032g0115 |
3 | 116 | 0.0259 | 26 | c.637 others(45): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMS3_chr3_29276071_30015386 | 29962551 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01993.hp1 HG02155.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0016a0001c0001t0017others(1): Show | a0001c0001t0005g0009 a0001c0001t0016g0064 a0001c0001t0016g0076 others(2): Show |
5 | 116 | 0.0431 | 26 | c.109 others(47): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RBMXL3_chrX_115184410_115197868 | 115197847 | T | TCTCTCTC others(19): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 | a0006 | a0006c0019 | a0006c0019t0001 | a0006c0019t0001g0000 | 1 | 314 | 0.0032 | 26 | c.*52 others(37): Show |
RBMXL3 | ENSG00000175718.10 | transcript | ENST00000424776.5 | protein_coding | 4980 | chrX | TogoVar | |||||||
RBP2_chr3_139447884_139481516 | 139462558 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02622.hp1 NA18956.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 a0001c0001t0001g0165 a0001c0001t0001g0194 |
3 | 266 | 0.0113 | 26 | c.74- others(39): Show |
RBP2 | ENSG00000114113.6 | transcript | ENST00000232217.6 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
RBPJL_chr20_45301840_45322824 | 45305805 | C | CTTTTTTT others(19): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01496.hp2 others(24): Show |
a0001a0013 | a0001c0001a0001c0002a0013c0010 | a0001c0001t0001a0001c0002t0001a0013c0010t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0022 others(9): Show |
27 | 446 | 0.0605 | 26 | c.-11 others(37): Show |
RBPJL | ENSG00000124232.11 | transcript | ENST00000343694.8 | protein_coding | 1034 | chr20 | TogoVar | |||||||
RBPJ_chr4_26316014_26439923 | 26316352 | C | CATATATA others(19): Show |
upstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0156 | 1 | 316 | 0.0032 | 26 | c.-46 others(37): Show |
RBPJ | ENSG00000168214.22 | transcript | ENST00000355476.8 | protein_coding | 4661 | chr4 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30445649 | G | GATATATA others(19): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 304 | 0.0033 | 26 | c.67- others(43): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30516903 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG02165.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0225 a0001c0001t0011g0088 |
2 | 304 | 0.0066 | 26 | c.397 others(45): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30518687 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG03579.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0211 a0001c0001t0006g0300 |
2 | 304 | 0.0066 | 26 | c.397 others(45): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30518715 | T | TTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 304 | 0.0033 | 26 | c.397 others(45): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 5/8 | chr8 | TogoVar | |||||||
RBPMS_chr8_30379541_30577256 | 30549772 | T | TTCTCTCT others(19): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0258 | 1 | 304 | 0.0033 | 26 | c.528 others(43): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30549793 | T | TCTCTCTC others(19): Show |
intron_variant | MODIFIER | HG02683.hp1 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0020 a0001c0001t0007g0055 |
2 | 304 | 0.0066 | 26 | c.528 others(43): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
RC3H1_chr1_173926084_174027357 | 173929831 | T | TTTTTTTT others(19): Show |
downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0036 | 1 | 310 | 0.0032 | 26 | c.*88 others(37): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 1252 | chr1 | TogoVar | |||||||
RC3H1_chr1_173926084_174027357 | 173942428 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0288 | 1 | 310 | 0.0032 | 26 | c.313 others(45): Show |
RC3H1 | ENSG00000135870.12 | transcript | ENST00000367696.7 | protein_coding | 18/19 | chr1 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46227602 | T | TTTGTATT others(19): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp2 others(35): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0062 others(35): Show |
38 | 158 | 0.2405 | 26 | c.572 others(43): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
RCAN2_chr6_46215736_46496449 | 46367022 | G | GATATATA others(19): Show |
intron_variant | MODIFIER | HG03486.hp2 NA18945.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0017 | a0001c0001t0001g0084 a0001c0001t0003g0103 a0001c0001t0017g0083 |
3 | 158 | 0.0190 | 26 | c.225 others(45): Show |
RCAN2 | ENSG00000172348.16 | transcript | ENST00000371374.6 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
RCBTB2_chr13_48483963_48538080 | 48493225 | T | TCACACAC others(19): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 320 | 0.0031 | 26 | c.151 others(45): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 14/14 | chr13 | TogoVar | |||||||
RCBTB2_chr13_48483963_48538080 | 48493311 | A | ACTCTCTC others(19): Show |
intron_variant | MODIFIER | HG00408.hp1 HG02683.hp1 HG04184.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0105 others(4): Show |
7 | 320 | 0.0219 | 26 | c.151 others(45): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 14/14 | chr13 | TogoVar | |||||||
RCBTB2_chr13_48483963_48538080 | 48499142 | A | ACACACAC others(19): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 320 | 0.0031 | 26 | c.138 others(43): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 13/14 | chr13 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75072155 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01993.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0186 a0002c0002t0002g0010 a0002c0002t0002g0034 others(2): Show |
6 | 270 | 0.0222 | 26 | c.324 others(43): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75072161 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0077 | 1 | 270 | 0.0037 | 26 | c.324 others(43): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 1/10 | chr7 | TogoVar | |||||||
RCC1_chr1_28501043_28543989 | 28543239 | A | AAAATATA others(19): Show |
downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0049 | 1 | 294 | 0.0034 | 26 | c.*52 others(37): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4251 | chr1 | TogoVar | |||||||
RCC1_chr1_28501043_28543989 | 28543239 | A | AATATATA others(19): Show |
downstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 294 | 0.0034 | 26 | c.*52 others(37): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 4251 | chr1 | TogoVar | |||||||
RCC2_chr1_17401760_17444677 | 17431359 | A | AAAAAATA others(19): Show |
intron_variant | MODIFIER | HG02080.hp1 HG02109.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0159 a0001c0002t0002g0200 |
2 | 390 | 0.0051 | 26 | c.286 others(43): Show |
RCC2 | ENSG00000179051.14 | transcript | ENST00000375436.9 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
RCHY1_chr4_75474033_75519403 | 75487786 | T | TATATATT others(19): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0030 | a0001c0001t0005g0155 a0001c0001t0030g0150 |
2 | 406 | 0.0049 | 26 | c.657 others(43): Show |
RCHY1 | ENSG00000163743.14 | transcript | ENST00000324439.10 | protein_coding | 8/8 | chr4 | TogoVar | |||||||
RCSD1_chr1_167625232_167713696 | 167630721 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02004.hp2 NA18950.hp1 NA19081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 |
3 | 350 | 0.0086 | 26 | c.6+2 others(37): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RDX_chr11_110224441_110301614 | 110289956 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG01978.hp2 HG02055.hp2 NA18939.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0042 | a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0003g0246 others(1): Show |
4 | 376 | 0.0106 | 26 | c.-65 others(43): Show |
RDX | ENSG00000137710.17 | transcript | ENST00000645495.2 | protein_coding | 1/13 | chr11 | TogoVar | |||||||
RECK_chr9_36031913_36129455 | 36048126 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02630.hp1 HG02723.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0281 a0001c0001t0001g0286 a0001c0001t0001g0290 others(5): Show |
8 | 392 | 0.0204 | 26 | c.101 others(43): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
REEP2_chr5_138434057_138451965 | 138449130 | G | GGGTTCCC others(19): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 432 | 0.0023 | 26 | c.*33 others(37): Show |
REEP2 | ENSG00000132563.17 | transcript | ENST00000378339.7 | protein_coding | 2166 | chr5 | TogoVar | |||||||
REEP6_chr19_1486181_1502927 | 1493708 | G | GACACACA others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0024 others(21): Show |
68 | 318 | 0.2138 | 26 | c.116 others(43): 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(19): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 a0001c0001t0003g0044 |
5 | 318 | 0.0157 | 26 | c.*34 others(37): Show |
REEP6 | ENSG00000115255.12 | transcript | ENST00000233596.8 | protein_coding | 2770 | chr19 | TogoVar |