| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(796): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01978.hp2 others(17): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0057a0001c0001t0001g0058others(17): Show | 20 | 336 | 0.0595 | 803 | c.248 others(820): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(796): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0096 | 1 | 336 | 0.0030 | 803 | c.248 others(820): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(796): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0056 | 2 | 336 | 0.0060 | 803 | c.248 others(820): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(796): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0003 | a0001c0003t0082 | a0001c0003t0082g0154 | 1 | 270 | 0.0037 | 803 | c.162 others(824): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(796): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0161 | 1 | 270 | 0.0037 | 803 | c.162 others(824): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(796): Show |
intron_variant | MODIFIER | NA18747.hp1 NA19086.hp1 |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0128a0001c0003t0007g0138 | 2 | 270 | 0.0074 | 803 | c.162 others(824): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(796): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0130 | 1 | 270 | 0.0037 | 803 | c.162 others(824): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(796): Show |
intron_variant | MODIFIER | HG02886.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0172a0001c0001t0004g0173 | 2 | 320 | 0.0063 | 803 | c.937 others(818): 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(796): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 320 | 0.0031 | 803 | c.937 others(818): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CROCC2_chr2_240901336_240998311 | 240924061 | G | GCCCCCCA others(796): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0121 | 1 | 350 | 0.0029 | 803 | c.488 others(820): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(796): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01361.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0001g0178others(1): Show | 4 | 374 | 0.0107 | 803 | c.-51 others(814): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | ||||||
| FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(796): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0139 | 1 | 374 | 0.0027 | 803 | c.-51 others(814): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | ||||||
| FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(796): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 344 | 0.0029 | 803 | c.617 others(820): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
| FLT4_chr5_180596506_180654600 | 180635661 | A | ATGCATGG others(796): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02809.hp1 HG03195.hp1 others(3): Show |
a0001a0002a0005 | a0001c0047a0002c0003a0002c0022others(1): Show | a0001c0047t0001a0002c0003t0001a0002c0022t0003others(1): Show | a0001c0047t0001g0173a0002c0003t0001g0375a0002c0022t0003g0147others(3): Show | 6 | 388 | 0.0155 | 803 | c.59- others(818): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | ||||||
| GPR35_chr2_240620480_240638159 | 240625887 | G | GGGTTCTC others(796): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0062 | 1 | 400 | 0.0025 | 803 | c.-5+ others(816): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| IFFO2_chr1_18899280_18961676 | 18925804 | T | TTGGTTGG others(796): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0366 | 1 | 376 | 0.0027 | 803 | c.666 others(820): Show |
IFFO2 | ENSG00000169991.11 | transcript | ENST00000455833.7 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33321386 | C | CATATATG others(796): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0226 | 1 | 323 | 0.0031 | 803 | c.-36 others(814): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 3583 | chr21 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(796): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0084 | 1 | 323 | 0.0031 | 803 | c.-21 others(814): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33323136 | T | TATATATA others(796): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 | a0002 | a0002c0002 | a0002c0002t0033 | a0002c0002t0033g0188 | 1 | 323 | 0.0031 | 803 | c.-19 others(814): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1833 | chr21 | TogoVar | ||||||
| KIF1A_chr2_240708767_240825219 | 240786702 | G | GCATCAGG others(796): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0189 | 1 | 330 | 0.0030 | 803 | c.430 others(818): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 5/48 | chr2 | TogoVar | ||||||
| LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(796): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0259 | 1 | 260 | 0.0039 | 803 | c.125 others(820): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(796): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0268 | 1 | 272 | 0.0037 | 803 | c.250 others(818): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(796): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 272 | 0.0037 | 803 | c.250 others(818): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
| MROH1_chr8_144143016_144266926 | 144233418 | A | ACCCACCA others(796): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0131 | 1 | 140 | 0.0071 | 803 | c.133 others(822): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 14/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(796): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0130 | 1 | 394 | 0.0025 | 803 | c.-8+ others(816): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | ||||||
| OGDHL_chr10_49729641_49767323 | 49742423 | C | CACACCAC others(796): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0154 | 1 | 316 | 0.0032 | 803 | c.201 others(820): Show |
OGDHL | ENSG00000197444.10 | transcript | ENST00000374103.9 | protein_coding | 15/22 | chr10 | TogoVar | ||||||
| PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(796): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 376 | 0.0027 | 803 | c.*15 others(814): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | ||||||
| PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(796): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0076 | 1 | 134 | 0.0075 | 803 | c.575 others(824): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
| PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCCCCT others(796): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 312 | 0.0032 | 803 | c.306 others(822): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 504407 | T | TTCCTGTA others(796): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0153 | 1 | 295 | 0.0034 | 803 | c.139 others(822): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(796): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0188 | 1 | 220 | 0.0046 | 803 | c.24+ others(820): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(796): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0027 | 1 | 220 | 0.0046 | 803 | c.24+ others(820): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
| RBPMS_chr8_30379541_30577256 | 30388398 | G | GCTTATAA others(796): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0088 | 1 | 304 | 0.0033 | 803 | c.66+ others(818): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(796): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0244 | 1 | 308 | 0.0033 | 803 | c.-75 others(822): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(796): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0047 | 1 | 308 | 0.0033 | 803 | c.-75 others(822): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
| SCARA5_chr8_27864883_27997673 | 27918975 | A | AGGAGGAG others(796): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0005 | a0005c0029 | a0005c0029t0033 | a0005c0029t0033g0127 | 1 | 314 | 0.0032 | 803 | c.916 others(820): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(796): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0005 | a0002c0005t0080 | a0002c0005t0080g0056 | 1 | 280 | 0.0036 | 803 | c.89- others(816): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCACT others(796): Show |
intron_variant | MODIFIER | HG02083.hp1 NA18950.hp2 NA19005.hp1 others(1): Show |
a0002a0003a0006 | a0002c0005a0003c0007a0006c0015 | a0002c0005t0001a0003c0007t0002a0006c0015t0007 | a0002c0005t0001g0049a0003c0007t0002g0065a0006c0015t0007g0028others(1): Show | 4 | 280 | 0.0143 | 803 | c.89- others(816): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
| SLIT3_chr5_168656740_169306139 | 168726538 | G | GAGGGAGG others(796): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0002 | a0002c0061 | a0002c0061t0011 | a0002c0061t0011g0051 | 1 | 132 | 0.0076 | 803 | c.227 others(822): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
| THEG_chr19_356747_381026 | 377320 | C | CCCCACCC others(796): Show |
upstream_gene_variant | MODIFIER | NA19078.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0218 | 1 | 370 | 0.0027 | 803 | c.-13 others(814): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1295 | chr19 | TogoVar | ||||||
| UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(796): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0135 | 1 | 250 | 0.0040 | 803 | c.82+ others(818): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| UMAD1_chr7_7635752_7884223 | 7679098 | C | CATATATT others(796): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0139 | 1 | 250 | 0.0040 | 803 | c.82+ others(818): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| ZNF627_chr19_11592483_11624161 | 11613145 | C | CCCTCCTT others(796): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0032 | 1 | 322 | 0.0031 | 803 | c.4-1 others(816): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ZNF85_chr19_20918251_20955697 | 20919169 | G | GTATATAT others(796): Show |
upstream_gene_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0265 | 1 | 383 | 0.0026 | 803 | c.-42 others(814): Show |
ZNF85 | ENSG00000105750.15 | transcript | ENST00000328178.13 | protein_coding | 4081 | chr19 | TogoVar | ||||||
| ABCB11_chr2_168915781_169036324 | 168975373 | A | AAATATTT others(797): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02976.hp2 |
a0001a0009 | a0001c0016a0009c0060 | a0001c0016t0008a0009c0060t0006 | a0001c0016t0008g0295a0009c0060t0006g0199 | 2 | 306 | 0.0065 | 804 | c.130 others(823): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
| ABCB11_chr2_168915781_169036324 | 168975373 | A | AAATATTT others(797): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0016 | a0001c0016t0033 | a0001c0016t0033g0294 | 1 | 306 | 0.0033 | 804 | c.130 others(823): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
| ACAP3_chr1_1287391_1312930 | 1289727 | C | CCCCGTGT others(797): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 295 | 0.0034 | 804 | c.*38 others(815): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2663 | chr1 | TogoVar | ||||||
| AFF2_chrX_148495617_149005663 | 148581356 | A | ATATATAC others(797): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0005 | a0001c0005t0023 | a0001c0005t0023g0125 | 1 | 169 | 0.0059 | 804 | c.48- others(821): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ATP9B_chr18_79064394_79383283 | 79336167 | G | GCCCTCCC others(797): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 298 | 0.0034 | 804 | c.202 others(821): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | chr18 | TogoVar | ||||||
| C22orf42_chr22_32144006_32164303 | 32145546 | A | ATATAATG others(797): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01361.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0020 | 3 | 398 | 0.0075 | 804 | c.*39 others(815): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3459 | chr22 | TogoVar |