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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(895): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0012 | 1 | 3 | 0.3333 | 902 | c.267 others(921): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(895): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0242 | 1 | 3 | 0.3333 | 902 | c.267 others(921): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(895): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 3 | 0.3333 | 902 | c.267 others(921): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142502426 | G | GTGGTGGT others(895): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 3 | 0.3333 | 902 | c.267 others(921): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 17/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
AP3D1_chr19_2095988_2156566 | 2128784 | C | CCCCACAG others(895): Show |
intron_variant | MODIFIER | NA19081.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0221 | 1 | 386 | 0.0026 | 902 | c.806 others(917): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(895): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0018 | a0018c0094 | a0018c0094t0016 | a0018c0094t0016g0146 | 1 | 74 | 0.0135 | 902 | c.-48 others(919): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539624 | C | CTTCATAA others(895): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 |
a0001 | a0001c0001a0001c0038 | a0001c0001t0013a0001c0038t0041 | a0001c0001t0013g0026 a0001c0038t0041g0047 |
2 | 94 | 0.0213 | 902 | c.139 others(923): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181712 | C | CACACATA others(895): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 324 | 0.0031 | 902 | c.193 others(919): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CLPTM1L_chr5_1312752_1350099 | 1326380 | C | CACATTTC others(895): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 368 | 0.0027 | 902 | c.108 others(920): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 9/16 | chr5 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133733 | T | TCTCTCTC others(895): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 217 | 0.0046 | 902 | c.-43 others(913): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 4028 | chr19 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(895): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 6 | 0.1667 | 902 | c.380 others(919): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(895): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0144 | 1 | 74 | 0.0135 | 902 | c.937 others(917): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(895): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0100 | 1 | 74 | 0.0135 | 902 | c.937 others(917): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(895): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0073 | 1 | 196 | 0.0051 | 902 | c.181 others(921): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
COL21A1_chr6_56051590_56252580 | 56098108 | T | TATATAAA others(895): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0084 a0001c0001t0010g0016 |
2 | 197 | 0.0102 | 902 | c.181 others(921): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 17/29 | chr6 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(895): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 302 | 0.0033 | 902 | c.513 others(919): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 977717 | T | TGTGGTGA others(895): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0009 | 1 | 39 | 0.0256 | 902 | c.73+ others(919): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272056 | A | ATTTTTTT others(895): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 369 | 0.0027 | 902 | c.966 others(919): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272057 | T | TTTTTTTT others(895): Show |
intron_variant | MODIFIER | HG02280.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0119 |
2 | 257 | 0.0078 | 902 | c.966 others(919): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272058 | T | TTTTTTTT others(895): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01496.hp1 HG01975.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0009 a0001c0001t0001g0033 a0001c0001t0001g0034 others(15): Show |
24 | 184 | 0.1304 | 902 | c.966 others(919): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EED_chr11_86239753_86283810 | 86272058 | T | TTTTTTTT others(895): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 161 | 0.0062 | 902 | c.966 others(919): Show |
EED | ENSG00000074266.23 | transcript | ENST00000263360.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137669339 | C | CTCACCGA others(895): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0009 | a0009c0021 | a0009c0021t0001 | a0009c0021t0001g0093 | 1 | 68 | 0.0147 | 902 | c.22- others(919): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 1/26 | chr9 | TogoVar | |||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(895): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0124 | 1 | 295 | 0.0034 | 902 | c.522 others(917): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(895): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0084 | 1 | 295 | 0.0034 | 902 | c.522 others(917): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328345 | G | GGCAGAAC others(895): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0122 | 1 | 295 | 0.0034 | 902 | c.522 others(917): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FAM118A_chr22_45304934_45346955 | 45328367 | C | CCTGGACT others(895): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0055 | 1 | 290 | 0.0034 | 902 | c.522 others(917): Show |
FAM118A | ENSG00000100376.12 | transcript | ENST00000441876.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
FHIT_chr3_59742277_61256452 | 60551574 | G | GAGGGGAG others(895): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 | 1 | 6 | 0.1667 | 902 | c.-17 others(921): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 4/9 | chr3 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218313 | A | AACACCAT others(895): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0012 | 1 | 67 | 0.0149 | 902 | c.*27 others(913): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1144 | chr8 | TogoVar | |||||||
KATNA1_chr6_149589873_149653714 | 149634275 | A | AAAAAAAA others(895): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 123 | 0.0081 | 902 | c.163 others(919): Show |
KATNA1 | ENSG00000186625.14 | transcript | ENST00000367411.7 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997338 | G | GCGGGGGA others(895): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0006 | a0001c0006t0019 | a0001c0006t0019g0140 | 1 | 342 | 0.0029 | 902 | c.-21 others(913): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 332 | chr6 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(895): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0102 | 1 | 16 | 0.0625 | 902 | c.56- others(919): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
KIRREL3_chr11_126418358_127005770 | 126632693 | G | GCCTCCTT others(895): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0037 | 1 | 100 | 0.0100 | 902 | c.56- others(919): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATA others(895): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0201 | 1 | 207 | 0.0048 | 902 | c.126 others(919): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(895): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0006 | a0006c0016 | a0006c0016t0001 | a0006c0016t0001g0001 | 1 | 348 | 0.0029 | 902 | c.-29 others(913): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | |||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(895): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0097 | 1 | 6 | 0.1667 | 902 | c.368 others(919): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
MAP9_chr4_155337658_155381965 | 155349247 | C | CATTGTGA others(895): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0004 | a0004c0005 | a0004c0005t0016 | a0004c0005t0016g0083 | 1 | 296 | 0.0034 | 902 | c.182 others(921): Show |
MAP9 | ENSG00000164114.19 | transcript | ENST00000311277.9 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
MAP9_chr4_155337658_155381965 | 155349248 | A | ATTGTGAC others(895): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0011 | a0011c0013 | a0011c0013t0001 | a0011c0013t0001g0110 | 1 | 121 | 0.0083 | 902 | c.182 others(921): Show |
MAP9 | ENSG00000164114.19 | transcript | ENST00000311277.9 | protein_coding | 13/13 | chr4 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(895): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0161 | 1 | 6 | 0.1667 | 902 | c.100 others(921): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(895): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0204 | 1 | 6 | 0.1667 | 902 | c.100 others(921): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(895): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0012 | a0002c0012t0027 | a0002c0012t0027g0182 | 1 | 6 | 0.1667 | 902 | c.100 others(921): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(895): Show |
upstream_gene_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0098 | 1 | 125 | 0.0080 | 902 | c.-49 others(913): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
NWD2_chr4_37239743_37454463 | 37331404 | G | GTACAATA others(895): Show |
intron_variant | MODIFIER | NA18946.hp1 NA18954.hp2 NA18978.hp2 |
a0001a0002 | a0001c0005a0002c0006 | a0001c0005t0006a0002c0006t0006 | a0001c0005t0006g0050 a0002c0006t0006g0046 a0002c0006t0006g0138 |
3 | 259 | 0.0116 | 902 | c.240 others(919): Show |
NWD2 | ENSG00000174145.8 | transcript | ENST00000309447.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(895): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0334 a0001c0001t0004g0335 |
2 | 3 | 0.6667 | 902 | c.734 others(919): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PAIP1_chr5_43521267_43562077 | 43541207 | C | CTCCGCCT others(895): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0331 a0001c0001t0007g0308 a0001c0001t0007g0309 |
3 | 4 | 0.7500 | 902 | c.734 others(919): Show |
PAIP1 | ENSG00000172239.14 | transcript | ENST00000306846.8 | protein_coding | 4/10 | chr5 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(895): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0024 | a0024c0024 | a0024c0024t0001 | a0024c0024t0001g0122 | 1 | 24 | 0.0417 | 902 | c.371 others(919): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(895): Show |
upstream_gene_variant | MODIFIER | NA18972.hp1 NA18981.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0014 |
3 | 4 | 0.7500 | 902 | c.-28 others(913): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | |||||||
PSMC3_chr11_47413775_47431439 | 47429079 | A | ACCTCCCA others(895): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00642.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0002g0005 others(11): Show |
32 | 33 | 0.9697 | 902 | c.-28 others(913): Show |
PSMC3 | ENSG00000165916.9 | transcript | ENST00000298852.8 | protein_coding | 2641 | chr11 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 495014 | G | GGGAGGAT others(895): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0045 | 1 | 19 | 0.0526 | 902 | c.126 others(921): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 495014 | G | GGGAGGAT others(895): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0186 | 1 | 19 | 0.0526 | 902 | c.126 others(921): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(895): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19060.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 a0001c0001t0001g0161 |
2 | 20 | 0.1000 | 902 | c.24+ others(919): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar |