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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0027t0028g0049a0002c0001t0025g0002 | 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 | a0001c0001t0002g0204a0001c0001t0006g0017a0001c0001t0006g0018others(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 | a0001c0001t0006g0110a0001c0001t0006g0111a0001c0001t0006g0112others(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 | a0002c0002t0004g0059a0002c0002t0004g0060a0002c0002t0004g0061 | 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 | a0015 | a0015c0025 | a0015c0025t0001 | a0015c0025t0001g0027 | 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 | a0001c0006t0027g0304a0002c0009t0011g0301 | 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 | a0001c0005t0005g0070a0001c0005t0005g0071 | 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 | a0001c0001t0001g0252a0001c0001t0001g0308a0001c0001t0007g0309others(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 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0124others(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 |
a0001a0004 | a0001c0001a0001c0006a0004c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(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 |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0003a0003c0010t0005 | a0001c0001t0003g0279a0003c0010t0005g0025 | 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 | a0001c0001t0001g0053a0001c0001t0001g0059a0001c0001t0002g0012others(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 | a0001c0001t0002g0093a0001c0001t0004g0105a0001c0001t0008g0113others(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 | a0001c0001t0002g0030a0001c0001t0002g0049a0001c0001t0002g0050others(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 | a0001c0001t0005g0007a0001c0001t0005g0068a0001c0001t0013g0078others(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 | ||||||
REV3L_chr6_111294033_111488218 | 111422595 | CACATATA others(37): Show |
C | intron_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0222 | 1 | 288 | 0.0035 | -44 | c.140 others(61): Show |
REV3L | ENSG00000009413.17 | transcript | ENST00000368802.8 | protein_coding | 1/31 | chr6 | TogoVar | ||||||
RFTN1_chr3_16310845_16518699 | 16403920 | ATAATATA others(37): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 268 | 0.0037 | -44 | c.441 others(61): Show |
RFTN1 | ENSG00000131378.14 | transcript | ENST00000334133.9 | protein_coding | 4/9 | chr3 | TogoVar | ||||||
RFX3_chr9_3213297_3531001 | 3504116 | TCTCCCTC others(37): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG04115.hp2 NA19002.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0029others(1): Show | a0001c0001t0005g0169a0001c0001t0010g0168a0001c0001t0029g0089others(1): Show | 4 | 196 | 0.0204 | -44 | c.-9+ others(61): Show |
RFX3 | ENSG00000080298.16 | transcript | ENST00000617270.5 | protein_coding | 1/16 | chr9 | TogoVar | ||||||
RFX7_chr15_56082280_56248879 | 56110370 | GGGGGGGG others(37): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG03209.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0012a0001c0001t0025a0001c0005t0012 | a0001c0001t0012g0006a0001c0001t0012g0009a0001c0001t0025g0010others(1): Show | 4 | 360 | 0.0111 | -44 | c.402 others(61): Show |
RFX7 | ENSG00000181827.16 | transcript | ENST00000559447.8 | protein_coding | 5/9 | chr15 | TogoVar | ||||||
RGL3_chr19_11389060_11424314 | 11414137 | ATATATAT others(37): Show |
A | intron_variant | MODIFIER | HG00408.hp1 | a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0156 | 1 | 402 | 0.0025 | -44 | c.637 others(61): Show |
RGL3 | ENSG00000205517.13 | transcript | ENST00000380456.8 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47074216 | AAAGAAAG others(37): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 304 | 0.0033 | -44 | c.-51 others(55): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4226 | chrX | TogoVar | ||||||
RGPD2_chr2_87750960_87830796 | 87825537 | CCGAGGCC others(37): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG02015.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0023a0005c0007 | a0001c0001t0001a0001c0023t0001a0005c0007t0001 | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0161others(6): Show | 9 | 176 | 0.0511 | -44 | c.72+ others(56): Show |
RGPD2 | ENSG00000185304.16 | transcript | ENST00000398146.5 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
RGS22_chr8_99955936_100111049 | 100098847 | TTATTTTA others(37): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG01243.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0004a0001c0001t0001g0099a0001c0001t0001g0102others(10): Show | 13 | 310 | 0.0419 | -44 | c.55- others(59): Show |
RGS22 | ENSG00000132554.21 | transcript | ENST00000360863.11 | protein_coding | 2/27 | chr8 | TogoVar | ||||||
RGS9_chr17_65132370_65232703 | 65228151 | GTGCAGTC others(37): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0057 | 1 | 222 | 0.0045 | -44 | c.*74 others(53): Show |
RGS9 | ENSG00000108370.17 | transcript | ENST00000262406.10 | protein_coding | 449 | chr17 | TogoVar | ||||||
RHBDF2_chr17_76465896_76506423 | 76494977 | AGTGGCCC others(37): Show |
A | intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0025 | 1 | 364 | 0.0028 | -44 | c.-22 others(63): Show |
RHBDF2 | ENSG00000129667.13 | transcript | ENST00000675367.1 | protein_coding | 1/18 | chr17 | TogoVar | ||||||
RHOBTB2_chr8_22994548_23025199 | 22996525 | GTGTGTGT others(37): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp1 HG03486.hp1 |
a0001 | a0001c0006 | a0001c0006t0015 | a0001c0006t0015g0026 | 2 | 358 | 0.0056 | -44 | c.-35 others(55): Show |
RHOBTB2 | ENSG00000008853.18 | transcript | ENST00000251822.7 | protein_coding | 3022 | chr8 | TogoVar | ||||||
RHOC_chr1_112696131_112712127 | 112706454 | CACACACA others(37): Show |
C | intron_variant | MODIFIER | HG02132.hp1 HG02145.hp1 HG02896.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0033a0001c0001t0001g0069 | 9 | 428 | 0.0210 | -44 | c.-77 others(59): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
RHOC_chr1_112696131_112712127 | 112706456 | CACACACA others(37): Show |
C | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 428 | 0.0023 | -44 | c.-77 others(59): Show |
RHOC | ENSG00000155366.17 | transcript | ENST00000339083.12 | protein_coding | 1/5 | chr1 | TogoVar | ||||||
RHOQ_chr2_46537490_46589688 | 46546468 | ATATATGT others(37): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG01256.hp2 others(26): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0210others(25): Show | 29 | 332 | 0.0874 | -44 | c.201 others(61): Show |
RHOQ | ENSG00000119729.12 | transcript | ENST00000238738.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |