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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RLF_chr1_40156387_40245921 | 40200935 | CACACTGG others(47): Show |
C | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0047 | 1 | 338 | 0.0030 | -54 | c.608 others(71): Show |
RLF | ENSG00000117000.9 | transcript | ENST00000372771.5 | protein_coding | 4/7 | chr1 | TogoVar | ||||||
RNF148_chr7_122696668_122707922 | 122706155 | TATATGCT others(47): Show |
T | upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 432 | 0.0023 | -54 | c.-34 others(65): Show |
RNF148 | ENSG00000235631.2 | transcript | ENST00000434824.2 | protein_coding | 3234 | chr7 | TogoVar | ||||||
RNF150_chr4_140854807_141138469 | 140935021 | TATATATT others(47): Show |
T | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0151 | 1 | 184 | 0.0054 | -54 | c.891 others(71): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
RNF150_chr4_140854807_141138469 | 140999942 | AAAGAAGA others(47): Show |
A | intron_variant | MODIFIER | HG01168.hp2 NA19085.hp1 |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0011a0006c0005t0099 | a0001c0001t0011g0092a0006c0005t0099g0179 | 2 | 184 | 0.0109 | -54 | c.485 others(73): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 1/6 | chr4 | TogoVar | ||||||
RNF175_chr4_153705160_153765024 | 153724985 | AGCTGTGT others(47): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01192.hp2 HG02109.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0040a0001c0001t0001g0151a0001c0001t0001g0152others(6): Show | 10 | 394 | 0.0254 | -54 | c.402 others(71): Show |
RNF175 | ENSG00000145428.15 | transcript | ENST00000347063.9 | protein_coding | 4/8 | chr4 | TogoVar | ||||||
RNF175_chr4_153705160_153765024 | 153724990 | TGTGGGGG others(47): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00621.hp1 others(75): Show |
a0001a0003a0010others(1): Show | a0001c0001a0003c0003a0010c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(55): Show | 78 | 394 | 0.1980 | -54 | c.402 others(71): Show |
RNF175 | ENSG00000145428.15 | transcript | ENST00000347063.9 | protein_coding | 4/8 | chr4 | TogoVar | ||||||
RNF213_chr17_80255852_80403794 | 80315057 | GAGGTGAT others(47): Show |
G | intron_variant | MODIFIER | HG02886.hp2 | a0092 | a0092c0117 | a0092c0117t0026 | a0092c0117t0026g0166 | 1 | 292 | 0.0034 | -54 | c.281 others(73): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RNF213_chr17_80255852_80403794 | 80315715 | ATGGTGGA others(47): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG03516.hp1 others(1): Show |
a0018a0028a0030 | a0018c0108a0028c0034a0030c0112 | a0018c0108t0006a0028c0034t0006a0028c0034t0012others(1): Show | a0018c0108t0006g0083a0028c0034t0006g0239a0028c0034t0012g0237others(1): Show | 4 | 292 | 0.0137 | -54 | c.281 others(73): Show |
RNF213 | ENSG00000173821.20 | transcript | ENST00000582970.6 | protein_coding | 15/67 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RNGTT_chr6_88604897_88968618 | 88697954 | GATATATA others(47): Show |
G | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 | 1 | 220 | 0.0046 | -54 | c.144 others(75): Show |
RNGTT | ENSG00000111880.16 | transcript | ENST00000369485.9 | protein_coding | 13/15 | chr6 | TogoVar | ||||||
RORA_chr15_60483284_61234302 | 60597539 | ACACACAC others(47): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0004 | 1 | 118 | 0.0085 | -54 | c.197 others(73): Show |
RORA | ENSG00000069667.16 | transcript | ENST00000335670.11 | protein_coding | 2/10 | chr15 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 288187 | GCACCCTC others(47): Show |
G | intron_variant | MODIFIER | HG02071.hp1 HG03831.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0007 | a0001c0001t0001g0091a0001c0002t0007g0112 | 2 | 133 | 0.0150 | -54 | c.352 others(71): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 288213 | GCACCCTC others(47): Show |
G | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0022 | 1 | 133 | 0.0075 | -54 | c.352 others(71): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPS6KA5_chr14_90842861_91065641 | 91044339 | CAAAGAAA others(47): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG01081.hp2 HG02132.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0032a0001c0001t0048others(7): Show | a0001c0001t0010g0064a0001c0001t0010g0196a0001c0001t0032g0105others(8): Show | 11 | 306 | 0.0360 | -54 | c.103 others(73): Show |
RPS6KA5 | ENSG00000100784.12 | transcript | ENST00000614987.5 | protein_coding | 1/16 | chr14 | TogoVar | ||||||
RPS6KA6_chrX_84053350_84193199 | 84191549 | TATATATA others(47): Show |
T | upstream_gene_variant | MODIFIER | HG02080.hp2 HG02523.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0069a0001c0001t0075 | a0001c0001t0028g0179a0001c0001t0069g0163a0001c0001t0075g0180 | 3 | 272 | 0.0110 | -54 | c.-37 others(65): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3351 | chrX | TogoVar | ||||||
RPS6KA6_chrX_84053350_84193199 | 84191687 | TATATATA others(47): Show |
T | upstream_gene_variant | MODIFIER | HG01081.hp1 HG01168.hp1 HG02976.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0011others(4): Show | a0001c0001t0002g0189a0001c0001t0002g0208a0001c0001t0006g0204others(5): Show | 8 | 272 | 0.0294 | -54 | c.-38 others(65): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3489 | chrX | TogoVar | ||||||
RPS6KA6_chrX_84053350_84193199 | 84191825 | TATATATA others(47): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0223 | 1 | 272 | 0.0037 | -54 | c.-39 others(65): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3627 | chrX | TogoVar | ||||||
RPS6KA6_chrX_84053350_84193199 | 84191909 | TATATATA others(47): Show |
T | upstream_gene_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0249 | 1 | 272 | 0.0037 | -54 | c.-40 others(65): Show |
RPS6KA6 | ENSG00000072133.12 | transcript | ENST00000262752.5 | protein_coding | 3711 | chrX | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80743712 | GTCCTGGC others(47): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0039 | a0001c0039t0061 | a0001c0039t0061g0177 | 1 | 196 | 0.0051 | -54 | c.655 others(73): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80743728 | CAGCCCTG others(47): Show |
C | intron_variant | MODIFIER | HG03486.hp2 NA18522.hp2 |
a0001 | a0001c0005a0001c0006 | a0001c0005t0075a0001c0006t0082 | a0001c0005t0075g0009a0001c0006t0082g0015 | 2 | 196 | 0.0102 | -54 | c.655 others(73): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80743800 | CAGCCCTG others(47): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0038 | a0001c0038t0007 | a0001c0038t0007g0178 | 1 | 196 | 0.0051 | -54 | c.655 others(73): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80743818 | GAGCCCTG others(47): Show |
G | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0010 | a0001c0010t0009 | a0001c0010t0009g0058 | 1 | 196 | 0.0051 | -54 | c.655 others(73): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80743971 | CTACTAGC others(47): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0038 | a0001c0038t0007 | a0001c0038t0007g0178 | 1 | 196 | 0.0051 | -54 | c.655 others(72): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744127 | CCCTGGCT others(47): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0029 | a0001c0029t0085 | a0001c0029t0085g0012 | 1 | 196 | 0.0051 | -54 | c.655 others(71): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744205 | TTACTAGC others(47): Show |
T | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0006 | a0001c0006t0087 | a0001c0006t0087g0013 | 1 | 196 | 0.0051 | -54 | c.655 others(71): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744343 | CCCTGGCT others(47): Show |
C | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0011 | a0001c0011t0024 | a0001c0011t0024g0147 | 1 | 196 | 0.0051 | -54 | c.655 others(71): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744461 | TAGCACAG others(47): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0056 | a0001c0056t0001 | a0001c0056t0001g0107 | 1 | 196 | 0.0051 | -54 | c.655 others(71): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744793 | CCCTGGCT others(47): Show |
C | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0077 | a0001c0077t0086 | a0001c0077t0086g0195 | 1 | 196 | 0.0051 | -54 | c.655 others(71): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80748342 | GGGGGGGC others(47): Show |
G | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0096 | a0001c0096t0072 | a0001c0096t0072g0171 | 1 | 196 | 0.0051 | -54 | c.655 others(71): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80918445 | AGTCATAG others(47): Show |
A | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0057 | a0001c0057t0077 | a0001c0057t0077g0016 | 1 | 196 | 0.0051 | -54 | c.252 others(73): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 21/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80918456 | CGAGCACC others(47): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG02015.hp2 others(18): Show |
a0001a0002 | a0001c0006a0001c0009a0001c0019others(12): Show | a0001c0006t0063a0001c0006t0082a0001c0009t0006others(17): Show | a0001c0006t0063g0160a0001c0006t0082g0015a0001c0009t0006g0142others(18): Show | 21 | 196 | 0.1071 | -54 | c.252 others(73): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 21/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80918494 | GCGGGGGT others(47): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG03209.hp2 |
a0001a0002 | a0001c0012a0002c0062 | a0001c0012t0003a0002c0062t0018 | a0001c0012t0003g0189a0002c0062t0018g0191 | 2 | 196 | 0.0102 | -54 | c.252 others(73): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 21/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPUSD4_chr11_126197096_126216650 | 126214884 | GGAACTTG others(47): Show |
G | upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0041 | 1 | 416 | 0.0024 | -54 | c.-33 others(65): Show |
RPUSD4 | ENSG00000165526.9 | transcript | ENST00000298317.9 | protein_coding | 3235 | chr11 | TogoVar | ||||||
RTN1_chr14_59590983_59875776 | 59749324 | ATATCTAT others(47): Show |
A | intron_variant | MODIFIER | HG01496.hp1 HG02145.hp1 HG03516.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0053a0001c0001t0001g0054a0001c0001t0001g0156others(1): Show | 4 | 172 | 0.0233 | -54 | c.242 others(71): Show |
RTN1 | ENSG00000139970.18 | transcript | ENST00000267484.10 | protein_coding | 1/8 | chr14 | TogoVar | ||||||
RUNDC3B_chr7_87623398_87837296 | 87715331 | ATAATTAA others(47): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01123.hp1 HG01192.hp1 others(35): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0013a0001c0001t0017others(16): Show | a0001c0001t0002g0027a0001c0001t0002g0137a0001c0001t0002g0162others(35): Show | 38 | 202 | 0.1881 | -54 | c.458 others(71): Show |
RUNDC3B | ENSG00000105784.16 | transcript | ENST00000394654.4 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
RXRA_chr9_134321455_134445585 | 134422557 | GTCCCCAC others(47): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01243.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0007others(18): Show | a0001c0001t0003g0080a0001c0001t0003g0166a0001c0001t0004g0005others(50): Show | 54 | 232 | 0.2328 | -54 | c.910 others(69): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
RXRA_chr9_134321455_134445585 | 134422587 | GGGACACT others(47): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG02145.hp1 HG02293.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0013a0001c0001t0050others(2): Show | a0001c0001t0003g0044a0001c0001t0003g0045a0001c0001t0003g0070others(6): Show | 9 | 232 | 0.0388 | -54 | c.910 others(69): Show |
RXRA | ENSG00000186350.12 | transcript | ENST00000481739.2 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SAA1_chr11_18261264_18274967 | 18268816 | GAGCAAGA others(47): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(113): Show |
a0001a0003a0009others(2): Show | a0001c0004a0003c0003a0009c0016others(2): Show | a0001c0004t0001a0001c0004t0003a0003c0003t0001others(3): Show | a0001c0004t0001g0006a0001c0004t0001g0020a0001c0004t0001g0021others(13): Show | 116 | 442 | 0.2624 | -54 | c.92- others(67): Show |
SAA1 | ENSG00000173432.13 | transcript | ENST00000356524.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SAMD12_chr8_118372984_118626963 | 118605765 | AATATATA others(47): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02895.hp2 HG02896.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0003t0002 | a0001c0001t0002g0124a0001c0001t0003g0125a0001c0003t0002g0126 | 3 | 188 | 0.0160 | -54 | c.13+ others(71): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
SAR1B_chr5_134596149_134637828 | 134615677 | CGTGGTGG others(47): Show |
C | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0166 | 1 | 322 | 0.0031 | -54 | c.179 others(71): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | ||||||
SAT1_chrX_23778173_23791210 | 23780106 | TATATACG others(47): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 2 | 330 | 0.0061 | -54 | c.-32 others(65): Show |
SAT1 | ENSG00000130066.17 | transcript | ENST00000379270.5 | protein_coding | 3066 | chrX | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1137316 | GGTGGGGG others(47): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00673.hp2 others(20): Show |
a0000a0001a0002others(1): Show | a0000c0014a0001c0001a0001c0005others(6): Show | a0000c0014t0001a0001c0001t0001a0001c0005t0001others(6): Show | a0000c0014t0001g0002a0000c0014t0001g0067a0000c0014t0001g0098others(20): Show | 23 | 203 | 0.1133 | -54 | c.280 others(71): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1137347 | GGGGGAGG others(47): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02717.hp1 HG03486.hp1 others(1): Show |
a0001 | a0001c0006a0001c0015a0001c0030 | a0001c0006t0001a0001c0015t0001a0001c0030t0001 | a0001c0006t0001g0089a0001c0015t0001g0017a0001c0015t0001g0116others(1): Show | 4 | 203 | 0.0197 | -54 | c.280 others(71): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1137607 | GGTGGGGG others(47): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG03486.hp1 |
a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0017a0001c0015t0001g0116 | 2 | 203 | 0.0099 | -54 | c.279 others(71): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1137983 | CTGGGGTG others(47): Show |
C | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 203 | 0.0049 | -54 | c.279 others(71): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1138090 | GGTGGGGG others(47): Show |
G | intron_variant | MODIFIER | HG02647.hp1 | a0000 | a0000c0021 | a0000c0021t0001 | a0000c0021t0001g0042 | 1 | 203 | 0.0049 | -54 | c.279 others(71): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | ||||||
SBSN_chr19_35518367_35533311 | 35527295 | AGCCTCAT others(47): Show |
A | disruptive_inframe_deletion | MODERATE | HG01891.hp2 HG02145.hp2 HG02895.hp1 others(1): Show |
a0009a0024 | a0009c0014a0024c0038 | a0009c0014t0001a0024c0038t0001 | a0009c0014t0001g0026a0024c0038t0001g0095 | 4 | 450 | 0.0089 | -54 | c.933 others(61): Show |
p.Gly others(13): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 1/4 | 1016/1946 | 933/1773 | 311/590 | chr19 | TogoVar | ||
SBSN_chr19_35518367_35533311 | 35527655 | CCCCTGGC others(47): Show |
C | disruptive_inframe_deletion | MODERATE | HG01256.hp2 HG01258.hp2 |
a0011 | a0011c0019 | a0011c0019t0001 | a0011c0019t0001g0037 | 2 | 450 | 0.0044 | -54 | c.573 others(61): Show |
p.Val others(13): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 1/4 | 656/1946 | 573/1773 | 191/590 | chr19 | TogoVar | ||
SBSN_chr19_35518367_35533311 | 35527667 | TCTCCCAG others(47): Show |
T | disruptive_inframe_deletion | MODERATE | HG01069.hp1 HG01167.hp2 HG01169.hp2 others(6): Show |
a0004 | a0004c0007a0004c0024 | a0004c0007t0001a0004c0024t0001 | a0004c0007t0001g0009a0004c0024t0001g0046 | 9 | 450 | 0.0200 | -54 | c.561 others(61): Show |
p.Phe others(13): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 1/4 | 644/1946 | 561/1773 | 187/590 | chr19 | TogoVar | ||
SBSN_chr19_35518367_35533311 | 35527739 | GGCCTGCC others(47): Show |
G | disruptive_inframe_deletion | MODERATE | HG01515.hp1 HG02683.hp1 NA20805.hp2 |
a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0022 | 3 | 450 | 0.0067 | -54 | c.489 others(61): Show |
p.Gly others(13): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 1/4 | 572/1946 | 489/1773 | 163/590 | chr19 | TogoVar | ||
SCARA5_chr8_27864883_27997673 | 27918643 | GGAGGAGG others(47): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(163): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0001a0001c0001t0024a0001c0002t0001others(84): Show | a0001c0001t0001g0194a0001c0001t0024g0134a0001c0002t0001g0144others(163): Show | 166 | 314 | 0.5287 | -54 | c.916 others(71): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar |