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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RC3H2_chr9_122839556_122910359 | 122868837 | ATATGTGT others(13): Show |
A | intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0014 | 1 | 320 | 0.0031 | -20 | c.132 others(39): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 9/20 | chr9 | TogoVar | |||||||
RC3H2_chr9_122839556_122910359 | 122868839 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 320 | 0.0031 | -20 | c.132 others(39): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 9/20 | chr9 | TogoVar | |||||||
RC3H2_chr9_122839556_122910359 | 122870377 | AAAACAAA others(13): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0188 a0001c0001t0001g0189 others(2): Show |
6 | 320 | 0.0188 | -20 | c.132 others(39): Show |
RC3H2 | ENSG00000056586.16 | transcript | ENST00000357244.7 | protein_coding | 9/20 | chr9 | TogoVar | |||||||
RCAN1_chr21_34511442_34620113 | 34513603 | TATCCATC others(13): Show |
T | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02615.hp2 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0239 others(1): Show |
4 | 378 | 0.0106 | -20 | c.*44 others(31): Show |
RCAN1 | ENSG00000159200.18 | transcript | ENST00000313806.9 | protein_coding | 2838 | chr21 | TogoVar | |||||||
RCAN3_chr1_24497836_24546040 | 24515427 | GGTGTGTG others(13): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0210 | 1 | 332 | 0.0030 | -20 | c.195 others(35): Show |
RCAN3 | ENSG00000117602.13 | transcript | ENST00000374395.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCBTB2_chr13_48483963_48538080 | 48525373 | GATATATA others(13): Show |
G | intron_variant | MODIFIER | HG02922.hp2 HG02965.hp2 HG02976.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0274 a0001c0001t0002g0049 a0001c0003t0001g0057 |
3 | 320 | 0.0094 | -20 | c.-21 others(37): Show |
RCBTB2 | ENSG00000136161.13 | transcript | ENST00000344532.8 | protein_coding | 1/14 | chr13 | TogoVar | |||||||
RCC1L_chr7_75037183_75078802 | 75043233 | CAGGAGAC others(13): Show |
C | intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 270 | 0.0037 | -20 | c.131 others(37): Show |
RCC1L | ENSG00000274523.5 | transcript | ENST00000610322.5 | protein_coding | 10/10 | chr7 | TogoVar | |||||||
RCC1_chr1_28501043_28543989 | 28533845 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG03831.hp2 NA18939.hp1 NA18957.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0156 others(4): Show |
7 | 294 | 0.0238 | -20 | c.442 others(37): Show |
RCC1 | ENSG00000180198.17 | transcript | ENST00000683442.1 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCL1_chr9_4787944_4866066 | 4806587 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 386 | 0.0026 | -20 | c.136 others(39): Show |
RCL1 | ENSG00000120158.12 | transcript | ENST00000381750.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RCN2_chr15_76926749_76959393 | 76953555 | CTATATAT others(13): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG01255.hp2 HG03704.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0050a0001c0001t0151others(3): Show | a0001c0001t0005g0018 a0001c0001t0005g0035 a0001c0001t0005g0062 others(8): Show |
12 | 422 | 0.0284 | -20 | c.*43 others(31): Show |
RCN2 | ENSG00000117906.14 | transcript | ENST00000394885.8 | protein_coding | 7/7 | 4353 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
RCN2_chr15_76926749_76959393 | 76953575 | ATATATAT others(13): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01192.hp1 HG01433.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0049a0001c0001t0147a0001c0001t0173others(4): Show | a0001c0001t0049g0004 a0001c0001t0147g0121 a0001c0001t0173g0004 others(4): Show |
8 | 422 | 0.0190 | -20 | c.*43 others(31): Show |
RCN2 | ENSG00000117906.14 | transcript | ENST00000394885.8 | protein_coding | 7/7 | 4355 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
RCOR1_chr14_102587649_102735561 | 102616206 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0006 a0001c0001t0005g0118 |
2 | 292 | 0.0069 | -20 | c.361 others(39): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102632611 | ATCCTTTC others(13): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG01169.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0013others(1): Show | a0001c0001t0002g0237 a0001c0001t0005g0053 a0001c0001t0005g0114 others(8): Show |
11 | 292 | 0.0377 | -20 | c.361 others(39): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102632729 | TCTCCCCT others(13): Show |
T | intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 292 | 0.0034 | -20 | c.361 others(39): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102639497 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013 | a0001c0001t0005g0116 a0001c0001t0005g0132 a0001c0001t0005g0138 others(1): Show |
4 | 292 | 0.0137 | -20 | c.362 others(39): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCOR1_chr14_102587649_102735561 | 102692710 | CTCCTTCC others(13): Show |
C | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0292 | 1 | 292 | 0.0034 | -20 | c.446 others(37): Show |
RCOR1 | ENSG00000089902.10 | transcript | ENST00000262241.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RCSD1_chr1_167625232_167713696 | 167644488 | AATACATA others(13): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 350 | 0.0029 | -20 | c.6+1 others(35): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RCSD1_chr1_167625232_167713696 | 167701252 | GTTTCTTT others(13): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02922.hp2 HG03139.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0017 | a0001c0001t0016g0112 a0001c0001t0016g0253 a0001c0001t0016g0327 others(2): Show |
5 | 350 | 0.0143 | -20 | c.121 others(39): Show |
RCSD1 | ENSG00000198771.11 | transcript | ENST00000367854.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RDH10_chr8_73289602_73330281 | 73325948 | CTGGGGTG others(13): Show |
C | downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 396 | 0.0025 | -20 | c.*29 others(31): Show |
RDH10 | ENSG00000121039.10 | transcript | ENST00000240285.10 | protein_coding | 668 | chr8 | TogoVar | |||||||
RDH10_chr8_73289602_73330281 | 73325950 | GGGGTGTG others(13): Show |
G | downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 396 | 0.0025 | -20 | c.*29 others(31): Show |
RDH10 | ENSG00000121039.10 | transcript | ENST00000240285.10 | protein_coding | 670 | chr8 | TogoVar | |||||||
RDH10_chr8_73289602_73330281 | 73325952 | GGTGTGTG others(13): Show |
G | downstream_gene_variant | MODIFIER | HG00544.hp1 HG01123.hp1 HG01255.hp1 others(21): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0020 others(15): Show |
24 | 396 | 0.0606 | -20 | c.*29 others(31): Show |
RDH10 | ENSG00000121039.10 | transcript | ENST00000240285.10 | protein_coding | 672 | chr8 | TogoVar | |||||||
RDH14_chr2_18549723_18565653 | 18549808 | GAACAACA others(13): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00597.hp1 others(31): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(6): Show |
34 | 452 | 0.0752 | -20 | c.*53 others(31): Show |
RDH14 | ENSG00000240857.2 | transcript | ENST00000381249.4 | protein_coding | 4914 | chr2 | TogoVar | |||||||
RDH14_chr2_18549723_18565653 | 18552210 | GATTATAA others(13): Show |
G | downstream_gene_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 452 | 0.0022 | -20 | c.*29 others(31): Show |
RDH14 | ENSG00000240857.2 | transcript | ENST00000381249.4 | protein_coding | 2512 | chr2 | TogoVar | |||||||
RDH8_chr19_10008483_10027279 | 10016124 | CTTATTTA others(13): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0001 | a0002c0001t0005 | a0002c0001t0005g0087 | 1 | 464 | 0.0022 | -20 | c.104 others(35): Show |
RDH8 | ENSG00000080511.5 | transcript | ENST00000591589.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36048126 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG03710.hp1 HG04228.hp2 |
a0001 | a0001c0008 | a0001c0008t0010 | a0001c0008t0010g0362 a0001c0008t0010g0363 |
2 | 392 | 0.0051 | -20 | c.101 others(37): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36061393 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG02818.hp2 HG02965.hp2 others(1): Show |
a0003 | a0003c0006 | a0003c0006t0001a0003c0006t0003 | a0003c0006t0001g0387 a0003c0006t0003g0388 a0003c0006t0003g0389 others(1): Show |
4 | 392 | 0.0102 | -20 | c.271 others(37): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36073213 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG02132.hp1 NA18940.hp2 NA18967.hp2 others(5): Show |
a0002 | a0002c0005a0002c0012 | a0002c0005t0001a0002c0012t0001 | a0002c0005t0001g0224 a0002c0005t0001g0236 a0002c0005t0001g0238 others(5): Show |
8 | 392 | 0.0204 | -20 | c.406 others(37): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36073231 | GACACACA others(13): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02895.hp1 HG02922.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0004a0006c0013t0004 | a0001c0001t0004g0297 a0001c0001t0004g0299 a0001c0001t0004g0300 others(1): Show |
4 | 392 | 0.0102 | -20 | c.406 others(37): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RECK_chr9_36031913_36129455 | 36104322 | ATATATTT others(13): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 a0001c0001t0001g0344 |
2 | 392 | 0.0051 | -20 | c.143 others(37): Show |
RECK | ENSG00000122707.12 | transcript | ENST00000377966.4 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
REEP1_chr2_86208993_86342626 | 86242498 | CGGCATTA others(13): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00558.hp1 others(100): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0010a0001c0002t0001a0001c0002t0002others(11): Show | a0001c0001t0010g0082 a0001c0002t0001g0004 a0001c0002t0001g0022 others(99): Show |
103 | 320 | 0.3219 | -20 | c.417 others(37): Show |
REEP1 | ENSG00000068615.20 | transcript | ENST00000538924.7 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
REG1A_chr2_79115488_79128409 | 79119187 | GATATATA others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG02148.hp1 HG02486.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0002g0002 a0001c0001t0004g0002 |
16 | 452 | 0.0354 | -20 | c.-13 others(31): Show |
REG1A | ENSG00000115386.6 | transcript | ENST00000233735.2 | protein_coding | 1300 | chr2 | TogoVar | |||||||
RELB_chr19_44996464_45043192 | 45011795 | TGTGAGAG others(13): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 382 | 0.0026 | -20 | c.164 others(35): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RELB_chr19_44996464_45043192 | 45011797 | TGAGAGAG others(13): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 382 | 0.0026 | -20 | c.164 others(35): Show |
RELB | ENSG00000104856.15 | transcript | ENST00000221452.13 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
RELCH_chr18_62182255_62315249 | 62253267 | TTGTGTGT others(13): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0004 | a0004c0012 | a0004c0012t0031 | a0004c0012t0031g0296 | 1 | 340 | 0.0029 | -20 | c.182 others(37): Show |
RELCH | ENSG00000134444.15 | transcript | ENST00000644646.2 | protein_coding | 12/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RELN_chr7_103466789_103994658 | 103491848 | TCTCTCTC others(13): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01169.hp2 HG03516.hp2 |
a0001 | a0001c0011 | a0001c0011t0001a0001c0011t0002 | a0001c0011t0001g0119 a0001c0011t0001g0142 a0001c0011t0002g0014 |
3 | 184 | 0.0163 | -20 | c.944 others(36): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 58/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103491850 | TCTCTCTC others(13): Show |
T | intron_variant | MODIFIER | HG01175.hp2 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0001a0002c0031 | a0001c0001t0001a0002c0031t0001 | a0001c0001t0001g0130 a0002c0031t0001g0046 |
2 | 184 | 0.0109 | -20 | c.944 others(36): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 58/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103491852 | TCTCTCAC others(13): Show |
T | intron_variant | MODIFIER | HG03098.hp1 HG03130.hp1 HG03471.hp2 |
a0001 | a0001c0020a0001c0057 | a0001c0020t0001a0001c0020t0004a0001c0057t0001 | a0001c0020t0001g0068 a0001c0020t0004g0162 a0001c0057t0001g0112 |
3 | 184 | 0.0163 | -20 | c.944 others(36): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 58/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103491856 | TCACACAC others(13): Show |
T | intron_variant | MODIFIER | HG01928.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0074 | 1 | 184 | 0.0054 | -20 | c.944 others(35): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 58/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103544220 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02622.hp2 HG02896.hp2 others(7): Show |
a0001a0002a0004 | a0001c0005a0001c0008a0001c0023others(5): Show | a0001c0005t0002a0001c0008t0002a0001c0008t0008others(7): Show | a0001c0005t0002g0009 a0001c0008t0002g0034 a0001c0008t0008g0001 others(7): Show |
10 | 184 | 0.0544 | -20 | c.652 others(37): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 42/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103773100 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG01169.hp1 HG03098.hp1 NA19011.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0006t0001others(1): Show | a0001c0001t0001g0132 a0001c0002t0002g0005 a0001c0006t0001g0097 others(1): Show |
4 | 184 | 0.0217 | -20 | c.544 others(37): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 4/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103905672 | CCACAGGA others(13): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(175): Show |
a0001a0002a0003others(34): Show | a0001c0001a0001c0002a0001c0003others(81): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(113): Show | a0001c0001t0001g0045 a0001c0001t0001g0066 a0001c0001t0001g0073 others(175): Show |
178 | 184 | 0.9674 | -20 | c.337 others(39): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 2/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103924985 | TACACATA others(13): Show |
T | intron_variant | MODIFIER | NA18906.hp2 | a0006 | a0006c0013 | a0006c0013t0002 | a0006c0013t0002g0022 | 1 | 184 | 0.0054 | -20 | c.227 others(37): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103926626 | AGTTTTTT others(13): Show |
A | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0158 | 1 | 184 | 0.0054 | -20 | c.227 others(37): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103926627 | GTTTTTTT others(13): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG01070.hp2 others(40): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0073 a0001c0001t0001g0111 a0001c0001t0003g0169 others(40): Show |
43 | 184 | 0.2337 | -20 | c.227 others(37): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 1/64 | chr7 | TogoVar | |||||||
REL_chr2_60876574_60936612 | 60917680 | CTGTGTGT others(13): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0138 | 1 | 276 | 0.0036 | -20 | c.536 others(35): Show |
REL | ENSG00000162924.16 | transcript | ENST00000394479.4 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
REM1_chr20_31470288_31489895 | 31486392 | CGAGAGAG others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01257.hp2 HG01346.hp2 others(5): Show |
a0002a0009 | a0002c0002a0009c0008 | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(1): Show | a0002c0002t0001g0015 a0002c0002t0001g0101 a0002c0002t0003g0038 others(2): Show |
8 | 344 | 0.0233 | -20 | c.*19 others(31): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 1498 | chr20 | TogoVar | |||||||
REM1_chr20_31470288_31489895 | 31486407 | CAGAGAGA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG02080.hp1 HG02523.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
3 | 344 | 0.0087 | -20 | c.*19 others(31): Show |
REM1 | ENSG00000088320.4 | transcript | ENST00000201979.3 | protein_coding | 1513 | chr20 | TogoVar | |||||||
REPS2_chrX_16941658_17158272 | 16951541 | ACACACAC others(13): Show |
A | intron_variant | MODIFIER | NA19030.hp2 NA20805.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0006g0132 |
3 | 166 | 0.0181 | -20 | c.273 others(37): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
REPS2_chrX_16941658_17158272 | 16953100 | AACACACA others(13): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 166 | 0.0060 | -20 | c.273 others(37): Show |
REPS2 | ENSG00000169891.18 | transcript | ENST00000357277.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RERE_chr1_8347404_8822640 | 8349637 | CCCGTCCG others(13): Show |
C | downstream_gene_variant | MODIFIER | HG02886.hp2 HG03041.hp1 HG03471.hp1 |
a0001a0006 | a0001c0004a0006c0013 | a0001c0004t0027a0006c0013t0021a0006c0013t0029 | a0001c0004t0027g0106 a0006c0013t0021g0023 a0006c0013t0029g0111 |
3 | 204 | 0.0147 | -20 | c.*54 others(31): Show |
RERE | ENSG00000142599.20 | transcript | ENST00000400908.7 | protein_coding | 2766 | chr1 | TogoVar |