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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PSMD1_chr2_231051867_231177827 | 231165024 | TTATATAT others(37): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG03130.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0021 a0001c0002t0004g0023 a0001c0002t0004g0024 others(3): Show |
6 | 364 | 0.0165 | -44 | c.248 others(61): Show |
PSMD1 | ENSG00000173692.14 | transcript | ENST00000308696.11 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PTDSS2_chr11_445279_496399 | 485065 | CTGCACGG others(37): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(89): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 others(84): Show |
92 | 346 | 0.2659 | -44 | c.436 others(61): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTGER3_chr1_70965782_71052816 | 70981312 | CTTCCTTT others(37): Show |
C | intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 372 | 0.0027 | -44 | c.107 others(63): Show |
PTGER3 | ENSG00000050628.21 | transcript | ENST00000306666.10 | protein_coding | 2/3 | chr1 | TogoVar | |||||||
PTGER4_chr5_40674915_40698735 | 40697226 | AAAAGAAA others(37): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 406 | 0.0025 | -44 | c.*48 others(55): Show |
PTGER4 | ENSG00000171522.6 | transcript | ENST00000302472.4 | protein_coding | 3492 | chr5 | TogoVar | |||||||
PTGES3L_chr17_42963103_42985080 | 42979721 | TTGGGAAG others(37): Show |
T | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 336 | 0.0030 | -44 | c.9-1 others(54): Show |
PTGES3L | ENSG00000267060.7 | transcript | ENST00000591916.7 | protein_coding | 1/6 | chr17 | TogoVar | |||||||
PTGFR_chr1_78485974_78545701 | 78532404 | ATGTGTAT others(37): Show |
A | intron_variant | MODIFIER | HG02630.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 a0001c0001t0001g0285 |
2 | 386 | 0.0052 | -44 | c.799 others(61): Show |
PTGFR | ENSG00000122420.10 | transcript | ENST00000370757.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTGIR_chr19_46615468_46630089 | 46619515 | AAGAAAGA others(37): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp2 HG02293.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 a0001c0003t0001g0012 a0001c0003t0001g0045 |
7 | 420 | 0.0167 | -44 | c.*17 others(55): Show |
PTGIR | ENSG00000160013.9 | transcript | ENST00000291294.7 | protein_coding | 952 | chr19 | TogoVar | |||||||
PTGS1_chr9_122366024_122400703 | 122391386 | CATATATA others(37): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01496.hp1 HG02109.hp1 others(24): Show |
a0001a0003a0005 | a0001c0002a0001c0008a0001c0011others(3): Show | a0001c0002t0002a0001c0008t0002a0001c0011t0002others(3): Show | a0001c0002t0002g0020 a0001c0002t0002g0045 a0001c0002t0002g0046 others(16): Show |
27 | 332 | 0.0813 | -44 | c.144 others(61): Show |
PTGS1 | ENSG00000095303.17 | transcript | ENST00000362012.7 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PTP4A2_chr1_31901421_31943368 | 31908113 | AATATATA others(37): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02071.hp1 HG02080.hp1 HG02129.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0022 | a0001c0001t0012g0190 a0001c0001t0012g0223 a0001c0001t0012g0231 others(3): Show |
7 | 354 | 0.0198 | -44 | c.*69 others(53): Show |
PTP4A2 | ENSG00000184007.22 | transcript | ENST00000647444.2 | protein_coding | 6/6 | 695 | chr1 | TogoVar | ||||||
PTPN2_chr18_12787152_12889237 | 12870341 | ACATATAT others(37): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 370 | 0.0027 | -44 | c.70- others(61): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 1/8 | chr18 | TogoVar | |||||||
PTPN2_chr18_12787152_12889237 | 12870385 | GTATATAT others(37): Show |
G | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 370 | 0.0027 | -44 | c.70- others(61): Show |
PTPN2 | ENSG00000175354.20 | transcript | ENST00000309660.10 | protein_coding | 1/8 | chr18 | TogoVar | |||||||
PTPRG_chr3_61556571_62302609 | 61738256 | TTTTATAT others(37): Show |
T | intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0067 | 1 | 94 | 0.0106 | -44 | c.86- others(61): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61738269 | TATATATA others(37): Show |
T | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0084 | 1 | 94 | 0.0106 | -44 | c.86- others(61): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRG_chr3_61556571_62302609 | 61792668 | TTTTCTTT others(37): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG03471.hp2 |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0002a0004c0006t0002 | a0002c0002t0002g0021 a0004c0006t0002g0094 |
2 | 94 | 0.0213 | -44 | c.190 others(63): Show |
PTPRG | ENSG00000144724.20 | transcript | ENST00000474889.6 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PTPRK_chr6_127963785_128525599 | 128435078 | AAGGAAGG others(37): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 53 | 0.0189 | -44 | c.101 others(63): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 1/29 | chr6 | TogoVar | |||||||
PTPRT_chr20_42067756_43194906 | 42276496 | AATATATA others(37): Show |
A | intron_variant | MODIFIER | HG01257.hp2 NA19240.hp1 |
a0001a0002 | a0001c0027a0002c0001 | a0001c0027t0028a0002c0001t0025 | a0001c0027t0028g0049 a0002c0001t0025g0002 |
2 | 62 | 0.0323 | -44 | c.217 others(63): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 13/30 | chr20 | TogoVar | |||||||
PTTG1IP_chr21_44844598_44878690 | 44866573 | CTACTCCC others(37): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0007 | a0001c0001t0002g0204 a0001c0001t0006g0017 a0001c0001t0006g0018 others(15): Show |
24 | 444 | 0.0541 | -44 | c.116 others(61): Show |
PTTG1IP | ENSG00000183255.12 | transcript | ENST00000330938.8 | protein_coding | 1/5 | chr21 | TogoVar | |||||||
PUDP_chrX_7043920_7153153 | 7091581 | TCCACCTG others(37): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG02965.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0112 others(1): Show |
4 | 260 | 0.0154 | -44 | c.280 others(63): Show |
PUDP | ENSG00000130021.15 | transcript | ENST00000381077.10 | protein_coding | 2/3 | chrX | TogoVar | |||||||
PVALEF_chr17_81160507_81188166 | 81166095 | GGAGCGCG others(37): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG02818.hp2 NA20805.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0059 a0002c0002t0004g0060 a0002c0002t0004g0061 |
3 | 408 | 0.0074 | -44 | c.-50 others(61): Show |
PVALEF | ENSG00000225180.8 | transcript | ENST00000637878.2 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PXDNL_chr8_51314577_51814445 | 51577959 | GAAAGAAA others(37): Show |
G | intron_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 122 | 0.0082 | -44 | c.308 others(63): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 3/22 | chr8 | TogoVar | |||||||
PXDNL_chr8_51314577_51814445 | 51744061 | GGAAGGAA others(37): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0016 | a0016c0025 | a0016c0025t0001 | a0016c0025t0001g0027 | 1 | 122 | 0.0082 | -44 | c.164 others(63): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1695459 | CCACAGGC others(37): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0009 | a0002c0009t0011 | a0002c0009t0011g0081 | 1 | 322 | 0.0031 | -44 | c.201 others(61): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1703522 | GGGGGGAC others(37): Show |
G | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0006 | a0001c0006t0027 | a0001c0006t0027g0304 | 1 | 322 | 0.0031 | -44 | c.201 others(63): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
PXDN_chr2_1626887_1749515 | 1747619 | GCCAGTGG others(37): Show |
G | upstream_gene_variant | MODIFIER | HG02615.hp2 HG03195.hp2 |
a0001a0002 | a0001c0006a0002c0009 | a0001c0006t0027a0002c0009t0011 | a0001c0006t0027g0304 a0002c0009t0011g0301 |
2 | 322 | 0.0062 | -44 | c.-32 others(55): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 3105 | chr2 | TogoVar | |||||||
PXMP2_chr12_132682587_132709985 | 132693946 | TTGCCAGT others(37): Show |
T | intron_variant | MODIFIER | HG03139.hp1 HG03471.hp1 |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0070 a0001c0005t0005g0071 |
2 | 350 | 0.0057 | -44 | c.237 others(61): Show |
PXMP2 | ENSG00000176894.10 | transcript | ENST00000317479.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141248599 | ATATATAC others(37): Show |
A | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0333 | 1 | 384 | 0.0026 | -44 | c.-53 others(63): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RAB11FIP4_chr17_31386675_31543211 | 31445540 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0156 | 1 | 310 | 0.0032 | -44 | c.336 others(63): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RAB18_chr10_27499304_27547239 | 27541481 | ATTGTGGT others(37): Show |
A | 3_prime_UTR_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0043 | a0001c0001t0043g0030 | 1 | 410 | 0.0024 | -44 | c.*34 others(55): Show |
RAB18 | ENSG00000099246.18 | transcript | ENST00000356940.11 | protein_coding | 7/7 | 3431 | chr10 | TogoVar | ||||||
RAB4A_chr1_229266111_229310894 | 229302269 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 400 | 0.0025 | -44 | c.542 others(59): Show |
RAB4A | ENSG00000168118.12 | transcript | ENST00000366690.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RAB5C_chr17_42119979_42159989 | 42144925 | CAAAAAAA others(37): Show |
C | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0108 | 1 | 306 | 0.0033 | -44 | c.-89 others(61): Show |
RAB5C | ENSG00000108774.15 | transcript | ENST00000346213.9 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB6B_chr3_133819235_133900882 | 133889388 | TTATATAT others(37): Show |
T | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0105 | 1 | 386 | 0.0026 | -44 | c.70+ others(59): Show |
RAB6B | ENSG00000154917.11 | transcript | ENST00000285208.9 | protein_coding | 1/7 | chr3 | TogoVar | |||||||
RABEP1_chr17_5277284_5391340 | 5282090 | CCTCCCGC others(37): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0130 | 1 | 352 | 0.0028 | -44 | c.-39 others(53): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 193 | chr17 | TogoVar | |||||||
RABEP1_chr17_5277284_5391340 | 5282096 | GCCGCGCT others(37): Show |
G | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00621.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0020others(3): Show | a0001c0001t0001g0252 a0001c0001t0001g0308 a0001c0001t0007g0309 others(26): Show |
29 | 352 | 0.0824 | -44 | c.-39 others(53): Show |
RABEP1 | ENSG00000029725.17 | transcript | ENST00000537505.6 | protein_coding | 187 | chr17 | TogoVar | |||||||
RABL6_chr9_136802948_136846187 | 136833486 | CCTGGGTC others(37): Show |
C | intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 330 | 0.0030 | -44 | c.705 others(61): Show |
RABL6 | ENSG00000196642.19 | transcript | ENST00000311502.12 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RAC1_chr7_6369527_6408967 | 6405100 | TCCACCAG others(37): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(291): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(54): Show | a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0124 others(278): Show |
294 | 392 | 0.7500 | -44 | c.*26 others(55): Show |
RAC1 | ENSG00000136238.20 | transcript | ENST00000348035.9 | protein_coding | 1134 | chr7 | TogoVar | |||||||
RAD23B_chr9_107278279_107337189 | 107289024 | TTCCCTCC others(37): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(197): Show |
a0001a0003 | a0001c0001a0001c0006a0003c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(182): Show |
200 | 346 | 0.5780 | -44 | c.66+ others(59): Show |
RAD23B | ENSG00000119318.13 | transcript | ENST00000358015.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
RALB_chr2_120247852_120299710 | 120299320 | CTGTAAAT others(37): Show |
C | downstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 358 | 0.0028 | -44 | c.*60 others(55): Show |
RALB | ENSG00000144118.14 | transcript | ENST00000272519.10 | protein_coding | 4611 | chr2 | TogoVar | |||||||
RAPGEF1_chr9_131571775_131745076 | 131586357 | CACACACA others(37): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG02602.hp1 |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0003a0004c0010t0005 | a0001c0001t0003g0279 a0004c0010t0005g0025 |
2 | 368 | 0.0054 | -44 | c.323 others(63): Show |
RAPGEF1 | ENSG00000107263.19 | transcript | ENST00000683357.1 | protein_coding | 22/26 | chr9 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114107269 | TGGCCTGT others(37): Show |
T | intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 67 | 0.0149 | -44 | c.55+ others(61): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RBFOX1_chr16_6014024_7718340 | 6779733 | TTATATAT others(37): Show |
T | intron_variant | MODIFIER | HG02148.hp2 HG02559.hp1 HG02738.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0002g0012 others(7): Show |
10 | 68 | 0.1471 | -44 | c.-16 others(65): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_6014024_7718340 | 7292237 | TATATATC others(37): Show |
T | intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 68 | 0.0147 | -44 | c.28- others(63): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000550418.6 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX1_chr16_7327845_7718340 | 7504743 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 234 | 0.0043 | -44 | c.88- others(61): Show |
RBFOX1 | ENSG00000078328.23 | transcript | ENST00000355637.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79484462 | AGGGCCTG others(37): Show |
A | intron_variant | MODIFIER | HG02976.hp2 HG03098.hp2 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0093 a0001c0001t0004g0105 a0001c0001t0008g0113 others(1): Show |
4 | 154 | 0.0260 | -44 | c.-31 others(63): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RBM17_chr10_6084034_6122447 | 6085743 | AGAAAGAA others(37): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0235 | 1 | 434 | 0.0023 | -44 | c.-34 others(55): Show |
RBM17 | ENSG00000134453.16 | transcript | ENST00000379888.9 | protein_coding | 3290 | chr10 | TogoVar | |||||||
RBMS3_chr3_29276071_30015386 | 29828977 | ACTTTCTT others(37): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(31): Show | a0001c0001t0002g0030 a0001c0001t0002g0049 a0001c0001t0002g0050 others(40): Show |
43 | 116 | 0.3707 | -44 | c.638 others(63): Show |
RBMS3 | ENSG00000144642.22 | transcript | ENST00000383767.7 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RELL1_chr4_37605634_37691376 | 37669190 | GGGTCAGC others(37): Show |
G | intron_variant | MODIFIER | HG02257.hp2 HG02273.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013a0001c0001t0061 | a0001c0001t0005g0007 a0001c0001t0005g0068 a0001c0001t0013g0078 others(1): Show |
4 | 324 | 0.0124 | -44 | c.88+ others(61): Show |
RELL1 | ENSG00000181826.10 | transcript | ENST00000454158.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
RELN_chr7_103466789_103994658 | 103773100 | TTTTCTTT others(37): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0041 | a0001c0041t0016 | a0001c0041t0016g0035 | 1 | 184 | 0.0054 | -44 | c.544 others(61): Show |
RELN | ENSG00000189056.15 | transcript | ENST00000428762.6 | protein_coding | 4/64 | chr7 | TogoVar | |||||||
REST_chr4_56902900_56940844 | 56904460 | ACAGAAAC others(37): Show |
A | upstream_gene_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 1 | 408 | 0.0025 | -44 | c.-37 others(55): Show |
REST | ENSG00000084093.19 | transcript | ENST00000309042.12 | protein_coding | 3439 | chr4 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759514 | CATACATA others(37): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 1 | 452 | 0.0022 | -44 | c.-23 others(55): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2105 | chr3 | TogoVar | |||||||
RETNLB_chr3_108750638_108762410 | 108759523 | GTATGTAT others(37): Show |
G | upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 452 | 0.0022 | -44 | c.-23 others(55): Show |
RETNLB | ENSG00000163515.7 | transcript | ENST00000295755.7 | protein_coding | 2114 | chr3 | TogoVar |