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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPRS_chr19_5200508_5345812 | 5303954 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00738.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(11): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0009others(14): Show | a0001c0001t0001g0090a0001c0002t0003g0117a0001c0002t0009g0150others(16): Show | 19 | 276 | 0.0688 | 32 | c.-94 others(51): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 1/37 | chr19 | TogoVar | ||||||
PTPRS_chr19_5200508_5345812 | 5303954 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02145.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0009a0001c0011 | a0001c0001t0001a0001c0009t0005a0001c0011t0010 | a0001c0001t0001g0148a0001c0009t0005g0089a0001c0011t0010g0059 | 3 | 276 | 0.0109 | 32 | c.-94 others(51): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 1/37 | chr19 | TogoVar | ||||||
PTPRS_chr19_5200508_5345812 | 5303954 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0010 | a0001c0010t0011 | a0001c0010t0011g0064 | 1 | 276 | 0.0036 | 32 | c.-94 others(51): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 1/37 | chr19 | TogoVar | ||||||
PTPRS_chr19_5200508_5345812 | 5303954 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0005 | a0001c0005t0023 | a0001c0005t0023g0213 | 1 | 276 | 0.0036 | 32 | c.-94 others(51): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 1/37 | chr19 | TogoVar | ||||||
PTPRS_chr19_5200508_5345812 | 5303954 | A | AAAAAAAT others(25): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 276 | 0.0036 | 32 | c.-94 others(51): Show |
PTPRS | ENSG00000105426.19 | transcript | ENST00000262963.11 | protein_coding | 1/37 | chr19 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42086751 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0043 | 1 | 62 | 0.0161 | 32 | c.384 others(49): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 27/30 | chr20 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 42404972 | T | TTTTATAT others(25): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG02965.hp1 |
a0001 | a0001c0002a0001c0003a0001c0029 | a0001c0002t0023a0001c0003t0001a0001c0029t0013 | a0001c0002t0023g0044a0001c0003t0001g0038a0001c0029t0013g0057 | 3 | 62 | 0.0484 | 32 | c.156 others(53): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 9/30 | chr20 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 43083320 | G | GTGTATAT others(25): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03540.hp2 |
a0002 | a0002c0009a0002c0014 | a0002c0009t0001a0002c0014t0007 | a0002c0009t0001g0018a0002c0014t0007g0004 | 2 | 62 | 0.0323 | 32 | c.88+ others(51): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | ||||||
PUM1_chr1_30926506_31070717 | 31038958 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 334 | 0.0030 | 32 | c.364 others(51): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | ||||||
PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG00140.hp1 HG03139.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042a0001c0001t0002g0074a0001c0001t0002g0192 | 3 | 334 | 0.0090 | 32 | c.364 others(51): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | ||||||
PUM1_chr1_30926506_31070717 | 31038984 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0332 | 1 | 334 | 0.0030 | 32 | c.364 others(51): Show |
PUM1 | ENSG00000134644.16 | transcript | ENST00000426105.7 | protein_coding | 2/21 | chr1 | TogoVar | ||||||
PUM2_chr2_20243737_20355844 | 20274957 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18969.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0120a0001c0001t0001g0150a0001c0001t0018g0129 | 3 | 358 | 0.0084 | 32 | c.195 others(51): Show |
PUM2 | ENSG00000055917.17 | transcript | ENST00000361078.7 | protein_coding | 13/20 | chr2 | TogoVar | ||||||
PUS7_chr7_105451503_105527271 | 105455576 | A | AATATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG01192.hp1 HG01255.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0049a0001c0001t0001g0059a0001c0001t0001g0065others(17): Show | 20 | 350 | 0.0571 | 32 | c.*22 others(43): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 926 | chr7 | TogoVar | ||||||
PUS7_chr7_105451503_105527271 | 105456102 | T | TATATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0223 | 1 | 350 | 0.0029 | 32 | c.*16 others(43): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 400 | chr7 | TogoVar | ||||||
PUS7_chr7_105451503_105527271 | 105456102 | T | TATATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 350 | 0.0029 | 32 | c.*16 others(43): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 400 | chr7 | TogoVar | ||||||
PUS7_chr7_105451503_105527271 | 105509184 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG01070.hp2 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0345a0001c0001t0006g0346 | 2 | 350 | 0.0057 | 32 | c.-32 others(47): Show |
PUS7 | ENSG00000091127.14 | transcript | ENST00000469408.6 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
PWWP2A_chr5_160086339_160124450 | 160092013 | G | GATATATA others(25): Show |
3_prime_UTR_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0305 | 1 | 384 | 0.0026 | 32 | c.*36 others(41): Show |
PWWP2A | ENSG00000170234.13 | transcript | ENST00000307063.9 | protein_coding | 2/2 | 368 | chr5 | TogoVar | |||||
PXDNL_chr8_51314577_51814445 | 51644318 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0025 | a0025c0034 | a0025c0034t0002 | a0025c0034t0002g0122 | 1 | 122 | 0.0082 | 32 | c.236 others(51): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 2/22 | chr8 | TogoVar | ||||||
PXDNL_chr8_51314577_51814445 | 51733812 | A | AATATATA others(25): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0011 | a0011c0017 | a0011c0017t0001 | a0011c0017t0001g0054 | 1 | 122 | 0.0082 | 32 | c.164 others(51): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | ||||||
PXDNL_chr8_51314577_51814445 | 51743908 | A | AAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01169.hp2 others(15): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0046a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0046t0001others(10): Show | a0001c0001t0001g0022a0001c0001t0002g0101a0001c0001t0002g0113others(15): Show | 18 | 122 | 0.1475 | 32 | c.164 others(51): Show |
PXDNL | ENSG00000147485.13 | transcript | ENST00000356297.5 | protein_coding | 1/22 | chr8 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1710919 | A | ACTCTATG others(25): Show |
intron_variant | MODIFIER | HG02735.hp1 NA18944.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0003 | a0001c0001t0009g0068a0001c0002t0003g0103 | 2 | 322 | 0.0062 | 32 | c.201 others(51): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1711188 | G | GCTCCACC others(25): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0245 | 1 | 322 | 0.0031 | 32 | c.201 others(51): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1711299 | T | TCTCCACC others(25): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0160 | 1 | 322 | 0.0031 | 32 | c.201 others(51): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1711647 | A | ACTCCACC others(25): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0164 | 1 | 322 | 0.0031 | 32 | c.201 others(51): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1720095 | C | CAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0044 | a0001c0044t0025 | a0001c0044t0025g0210 | 1 | 322 | 0.0031 | 32 | c.200 others(51): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
PXDN_chr2_1626887_1749515 | 1720225 | C | CAGAGAGA others(25): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00558.hp1 others(51): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0173a0001c0001t0001g0176a0001c0001t0001g0179others(51): Show | 54 | 322 | 0.1677 | 32 | c.200 others(51): Show |
PXDN | ENSG00000130508.11 | transcript | ENST00000252804.9 | protein_coding | 1/22 | chr2 | TogoVar | ||||||
PXMP4_chr20_33697758_33725310 | 33717639 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02630.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0031 | a0001c0001t0007g0130a0001c0001t0007g0163a0001c0001t0031g0135 | 3 | 388 | 0.0077 | 32 | c.113 others(49): Show |
PXMP4 | ENSG00000101417.12 | transcript | ENST00000409299.8 | protein_coding | 1/3 | chr20 | TogoVar | ||||||
PXYLP1_chr3_141226825_141299924 | 141248719 | G | GTATATAC others(25): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 384 | 0.0026 | 32 | c.-53 others(51): Show |
PXYLP1 | ENSG00000155893.13 | transcript | ENST00000286353.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PYDC2_chr3_191456163_191466456 | 191463020 | C | CTCTTTCT others(25): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0002 | a0002c0002t0000 | a0002c0002t0000g0000 | 1 | 434 | 0.0023 | 32 | c.*15 others(43): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1565 | chr3 | TogoVar | ||||||
PYDC2_chr3_191456163_191466456 | 191463090 | T | TCTCCCTC others(25): Show |
downstream_gene_variant | MODIFIER | NA18969.hp2 NA19000.hp1 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 2 | 434 | 0.0046 | 32 | c.*16 others(43): Show |
PYDC2 | ENSG00000253548.1 | transcript | ENST00000518817.1 | protein_coding | 1635 | chr3 | TogoVar | ||||||
PYGO1_chr15_55533884_55593345 | 55576760 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 HG02723.hp2 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0009a0001c0001t0042a0001c0001t0047others(2): Show | a0001c0001t0009g0078a0001c0001t0009g0079a0001c0001t0009g0080others(6): Show | 9 | 412 | 0.0218 | 32 | c.49+ others(49): Show |
PYGO1 | ENSG00000171016.13 | transcript | ENST00000563719.4 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
QKI_chr6_163409718_163583592 | 163445290 | C | CACTCTGT others(25): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00642.hp1 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0011others(37): Show | a0001c0001t0008g0258a0001c0001t0008g0259a0001c0001t0008g0263others(81): Show | 85 | 302 | 0.2815 | 32 | c.143 others(49): Show |
QKI | ENSG00000112531.17 | transcript | ENST00000361752.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
QPCT_chr2_37339630_37378322 | 37347231 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG02165.hp2 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 2 | 442 | 0.0045 | 32 | c.120 others(49): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
QPCT_chr2_37339630_37378322 | 37347231 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0360 | 1 | 442 | 0.0023 | 32 | c.120 others(49): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
QPCT_chr2_37339630_37378322 | 37347231 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG03130.hp1 NA19030.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0154a0001c0003t0001g0155 | 2 | 442 | 0.0045 | 32 | c.120 others(49): Show |
QPCT | ENSG00000115828.17 | transcript | ENST00000338415.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
QRFPR_chr4_121323642_121386018 | 121380186 | G | GGAGAGAG others(25): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0156 | 1 | 384 | 0.0026 | 32 | c.340 others(46): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
QRFPR_chr4_121323642_121386018 | 121380186 | G | GGAGAGAG others(25): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0332 | 1 | 384 | 0.0026 | 32 | c.340 others(47): Show |
QRFPR | ENSG00000186867.11 | transcript | ENST00000394427.3 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
QRICH1_chr3_49024707_49099071 | 49050248 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 226 | 0.0044 | 32 | c.133 others(51): Show |
QRICH1 | ENSG00000198218.12 | transcript | ENST00000395443.7 | protein_coding | 3/9 | chr3 | TogoVar | ||||||
R3HDM2_chr12_57248764_57436043 | 57260263 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0289 | 1 | 336 | 0.0030 | 32 | c.213 others(51): Show |
R3HDM2 | ENSG00000179912.21 | transcript | ENST00000402412.6 | protein_coding | 19/23 | chr12 | TogoVar | ||||||
RAB10_chr2_26029084_26142454 | 26057620 | T | TTTCATTC others(25): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01167.hp2 HG01169.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0158others(10): Show | 13 | 212 | 0.0613 | 32 | c.127 others(51): Show |
RAB10 | ENSG00000084733.11 | transcript | ENST00000264710.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
RAB11FIP4_chr17_31386675_31543211 | 31505439 | T | TATAATAA others(25): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01433.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0014 | a0001c0001t0014a0001c0001t0021a0001c0001t0025others(2): Show | a0001c0001t0014g0303a0001c0001t0021g0025a0001c0001t0021g0026others(3): Show | 6 | 310 | 0.0194 | 32 | c.337 others(51): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB11FIP4_chr17_31386675_31543211 | 31505684 | A | ATATATAA others(25): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02109.hp2 HG02258.hp2 others(12): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0007a0001c0001t0014others(6): Show | a0001c0001t0003g0300a0001c0001t0007g0035a0001c0001t0007g0046others(12): Show | 15 | 310 | 0.0484 | 32 | c.337 others(51): Show |
RAB11FIP4 | ENSG00000131242.18 | transcript | ENST00000621161.5 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RAB15_chr14_64940816_64977336 | 64973893 | C | CAAAAAAA others(25): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0261 | 1 | 382 | 0.0026 | 32 | c.-18 others(43): Show |
RAB15 | ENSG00000139998.16 | transcript | ENST00000533601.7 | protein_coding | 1558 | chr14 | TogoVar | ||||||
RAB18_chr10_27499304_27547239 | 27508309 | G | GGATTAGC others(25): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0064 | 1 | 410 | 0.0024 | 32 | c.69- others(47): Show |
RAB18 | ENSG00000099246.18 | transcript | ENST00000356940.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RAB27A_chr15_55197966_55294813 | 55209993 | C | CATATGTG others(25): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0148 | 1 | 320 | 0.0031 | 32 | c.468 others(49): Show |
RAB27A | ENSG00000069974.17 | transcript | ENST00000336787.6 | protein_coding | 6/6 | chr15 | TogoVar | ||||||
RAB27B_chr18_54823477_54900516 | 54850333 | G | GACATATA others(25): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01255.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0062a0001c0001t0001g0155a0001c0001t0001g0156others(9): Show | 12 | 334 | 0.0359 | 32 | c.-20 others(51): Show |
RAB27B | ENSG00000041353.10 | transcript | ENST00000262094.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RAB2A_chr8_60511987_60628644 | 60605832 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0328a0001c0001t0005g0297a0001c0001t0005g0298 | 3 | 358 | 0.0084 | 32 | c.475 others(51): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RAB2A_chr8_60511987_60628644 | 60605852 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 358 | 0.0028 | 32 | c.475 others(51): Show |
RAB2A | ENSG00000104388.15 | transcript | ENST00000262646.12 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RAB31_chr18_9703301_9867551 | 9716910 | T | TTTTCTTT others(25): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02132.hp2 HG02258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006 | a0001c0001t0001g0202a0001c0001t0001g0203a0001c0001t0005g0201others(1): Show | 4 | 322 | 0.0124 | 32 | c.39+ others(47): Show |
RAB31 | ENSG00000168461.13 | transcript | ENST00000578921.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
RAB35_chr12_120090099_120121753 | 120110290 | A | AATTTTTT others(25): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0301 | 1 | 414 | 0.0024 | 32 | c.53- others(47): Show |
RAB35 | ENSG00000111737.12 | transcript | ENST00000229340.10 | protein_coding | 1/5 | chr12 | TogoVar |