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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDE3A_chr12_20363537_20693583 | 20470460 | G | GTTTGAAC others(609): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02818.hp2 HG02896.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0067a0001c0001t0082others(3): Show | a0001c0001t0001g0079a0001c0001t0067g0016a0001c0001t0082g0064others(3): Show | 6 | 198 | 0.0303 | 616 | c.961 others(635): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 165942 | C | CCTCTGAC others(609): Show |
intron_variant | MODIFIER | NA18979.hp2 NA19066.hp2 NA19088.hp1 |
a0003 | a0003c0004a0003c0017 | a0003c0004t0016a0003c0017t0016 | a0003c0004t0016g0078a0003c0004t0016g0133a0003c0017t0016g0110 | 3 | 210 | 0.0143 | 616 | c.347 others(635): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 13/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLXNB2_chr22_50269979_50312646 | 50285737 | G | GCCGGCAC others(609): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0004 | a0004c0026 | a0004c0026t0003 | a0004c0026t0003g0123 | 1 | 302 | 0.0033 | 616 | c.208 others(631): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 11/36 | chr22 | TogoVar | ||||||
PPP1R12C_chr19_55085918_55122637 | 55097369 | T | TCACCACC others(609): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0257 | 1 | 390 | 0.0026 | 616 | c.952 others(633): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | ||||||
PRSS33_chr16_2778953_2792560 | 2787233 | C | CCCCTGTC others(609): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0094 | 1 | 386 | 0.0026 | 616 | c.-58 others(631): Show |
PRSS33 | ENSG00000103355.14 | transcript | ENST00000682474.1 | protein_coding | 1/6 | chr16 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 43095827 | A | ACCCTCCT others(609): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02965.hp1 HG02976.hp2 |
a0001a0006 | a0001c0002a0006c0019 | a0001c0002t0006a0001c0002t0023a0006c0019t0008 | a0001c0002t0006g0039a0001c0002t0023g0044a0006c0019t0008g0050 | 3 | 62 | 0.0484 | 616 | c.88+ others(633): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | ||||||
QSOX2_chr9_136201333_136250812 | 136234723 | G | GGCTTGGG others(609): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0059 | 1 | 392 | 0.0026 | 616 | c.329 others(633): Show |
QSOX2 | ENSG00000165661.18 | transcript | ENST00000358701.10 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 467502 | G | GCCTCAGG others(609): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0083 | 1 | 295 | 0.0034 | 616 | c.809 others(633): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 467548 | C | CTCAGGGA others(609): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0050 | 1 | 295 | 0.0034 | 616 | c.809 others(633): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 492360 | T | TCCTCCCG others(609): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 | 1 | 295 | 0.0034 | 616 | c.126 others(635): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RAB11FIP3_chr16_420649_528011 | 504453 | C | CCCCCTCA others(609): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0183 | 1 | 295 | 0.0034 | 616 | c.139 others(635): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103251039 | C | CACCACCC others(609): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0000 | 1 | 375 | 0.0027 | 616 | c.*43 others(627): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3024 | chr10 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 273544 | T | TGACGTCA others(609): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0014 | 1 | 133 | 0.0075 | 616 | c.438 others(633): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | ||||||
RSRC1_chr3_158105089_158550730 | 158228874 | A | AACACACA others(609): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 276 | 0.0036 | 616 | c.494 others(635): Show |
RSRC1 | ENSG00000174891.14 | transcript | ENST00000611884.5 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(609): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0067 | 1 | 170 | 0.0059 | 616 | c.59- others(633): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | ||||||
RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(609): Show |
intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 170 | 0.0059 | 616 | c.59- others(633): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | ||||||
RUNX1_chr21_34782801_35054302 | 34931569 | A | ATGTATAC others(609): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0124 | 1 | 170 | 0.0059 | 616 | c.59- others(633): Show |
RUNX1 | ENSG00000159216.19 | transcript | ENST00000675419.1 | protein_coding | 2/8 | chr21 | TogoVar | ||||||
SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(609): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0009 | 2 | 378 | 0.0053 | 616 | c.937 others(633): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(609): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01169.hp1 HG02015.hp2 others(10): Show |
a0003 | a0003c0003a0003c0014a0003c0016 | a0003c0003t0001a0003c0014t0001a0003c0016t0001 | a0003c0003t0001g0007a0003c0003t0001g0046a0003c0003t0001g0049others(9): Show | 13 | 378 | 0.0344 | 616 | c.937 others(633): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(609): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0067 | 1 | 378 | 0.0027 | 616 | c.937 others(633): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(609): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0052 | 1 | 378 | 0.0027 | 616 | c.937 others(633): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(609): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0165a0001c0002t0001g0166 | 2 | 378 | 0.0053 | 616 | c.937 others(633): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(609): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0162a0001c0002t0001g0164 | 2 | 378 | 0.0053 | 616 | c.937 others(633): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SAMM50_chr22_43950442_44001529 | 43980136 | A | ACATCCAT others(609): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0167 | 1 | 378 | 0.0027 | 616 | c.937 others(633): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SAMM50_chr22_43950442_44001529 | 43980139 | T | TCCATCCA others(609): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0189 | 1 | 378 | 0.0027 | 616 | c.937 others(633): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SAMM50_chr22_43950442_44001529 | 43980161 | C | CATCCATC others(609): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0051 | 1 | 378 | 0.0027 | 616 | c.937 others(633): Show |
SAMM50 | ENSG00000100347.15 | transcript | ENST00000350028.5 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SCUBE1_chr22_43192280_43348372 | 43339818 | T | TTCTACCC others(609): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122 | 1 | 280 | 0.0036 | 616 | c.89- others(629): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(609): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0035 | 1 | 150 | 0.0067 | 616 | c.77- others(633): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(609): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0097 | 1 | 150 | 0.0067 | 616 | c.77- others(633): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEPTIN9_chr17_77276499_77505593 | 77356670 | C | CCCCCTCC others(609): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0036 | 1 | 150 | 0.0067 | 616 | c.77- others(633): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000427177.6 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(609): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0137 | 1 | 158 | 0.0063 | 616 | c.22+ others(633): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(609): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0110 | 1 | 158 | 0.0063 | 616 | c.22+ others(633): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SEPTIN9_chr17_77314518_77505593 | 77356670 | C | CCCCCTCC others(609): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0139 | 1 | 158 | 0.0063 | 616 | c.22+ others(633): Show |
SEPTIN9 | ENSG00000184640.20 | transcript | ENST00000329047.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SHROOM2_chrX_9781429_9954443 | 9792159 | T | TAGAATAG others(609): Show |
intron_variant | MODIFIER | NA19055.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0052 | 1 | 256 | 0.0039 | 616 | c.165 others(633): Show |
SHROOM2 | ENSG00000146950.13 | transcript | ENST00000380913.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(609): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0073 | 1 | 318 | 0.0031 | 616 | c.949 others(631): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | ||||||
SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(609): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 318 | 0.0031 | 616 | c.949 others(631): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | ||||||
SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(609): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 318 | 0.0031 | 616 | c.949 others(631): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | ||||||
SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(609): Show |
intron_variant | MODIFIER | HG02015.hp2 NA18948.hp2 NA18953.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012 | a0001c0001t0008g0012a0001c0001t0008g0036a0001c0001t0008g0092others(1): Show | 5 | 318 | 0.0157 | 616 | c.949 others(631): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | ||||||
SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(609): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02080.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0154a0001c0001t0003g0199 | 2 | 318 | 0.0063 | 616 | c.949 others(631): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | ||||||
SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(609): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0145 | 1 | 318 | 0.0031 | 616 | c.949 others(631): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | ||||||
SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(609): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117 | 1 | 318 | 0.0031 | 616 | c.949 others(631): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | ||||||
SMIM36_chr17_55444856_55516452 | 55501087 | A | ATATCATA others(609): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 340 | 0.0029 | 616 | c.*17 others(635): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1221592 | C | CTCTGCCT others(609): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01516.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0001 | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0058others(2): Show | 5 | 190 | 0.0263 | 616 | c.719 others(635): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | chr2 | TogoVar | ||||||
SORCS2_chr4_7187538_7747827 | 7724931 | A | AGTAGTGG others(609): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0004 | a0004c0044 | a0004c0044t0046 | a0004c0044t0046g0016 | 1 | 168 | 0.0060 | 616 | c.261 others(633): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SORCS2_chr4_7187538_7747827 | 7724931 | A | AGTAGTGG others(609): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0012 | a0003c0012t0036 | a0003c0012t0036g0010 | 1 | 168 | 0.0060 | 616 | c.261 others(633): Show |
SORCS2 | ENSG00000184985.17 | transcript | ENST00000507866.6 | protein_coding | 19/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SPAAR_chr9_35904490_35916686 | 35914334 | G | GAGTGTGT others(609): Show |
downstream_gene_variant | MODIFIER | NA18983.hp2 NA19067.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 3 | 420 | 0.0071 | 616 | c.*36 others(627): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2649 | chr9 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46859584 | G | GATAGAGG others(609): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 112 | 0.0089 | 616 | c.638 others(635): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(609): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01496.hp1 NA18980.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0074a0001c0001t0001g0084a0001c0001t0018g0089 | 3 | 112 | 0.0268 | 616 | c.142 others(635): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBC1D22A_chr22_46757650_47180693 | 47170899 | C | CGGAGAGA others(609): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00558.hp1 others(21): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0027a0001c0001t0001g0030a0001c0001t0001g0057others(21): Show | 24 | 112 | 0.2143 | 616 | c.142 others(635): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TBCD_chr17_82747065_82950914 | 82764895 | G | GTGTGCTC others(609): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(87): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0002a0001c0014others(12): Show | a0001c0001t0002a0001c0001t0026a0001c0001t0028others(21): Show | a0001c0001t0002g0223a0001c0001t0002g0301a0001c0001t0002g0304others(87): Show | 90 | 318 | 0.2830 | 616 | c.333 others(631): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 3/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |