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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCB11_chr2_168915781_169036324 | 168975373 | A | AAATATTT others(793): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0291 a0001c0007t0001g0292 |
2 | 269 | 0.0074 | 800 | c.130 others(819): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289747 | C | CCGTGTCC others(793): Show |
downstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 275 | 0.0036 | 800 | c.*38 others(811): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2643 | chr1 | TogoVar | |||||||
AFF2_chrX_148495617_149005663 | 148581275 | T | TACGTATA others(793): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 104 | 0.0096 | 800 | c.48- others(817): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148581356 | A | ACATACAC others(793): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0005 | a0001c0005t0020 | a0001c0005t0020g0131 | 1 | 79 | 0.0127 | 800 | c.48- others(817): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/20 | chrX | TogoVar | |||||||
ARSH_chrX_3001546_3039111 | 3037056 | T | TTATATAT others(793): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0144 | 1 | 218 | 0.0046 | 800 | c.*36 others(811): Show |
ARSH | ENSG00000205667.3 | transcript | ENST00000381130.3 | protein_coding | 2946 | chrX | TogoVar | |||||||
ATP10A_chr15_25673712_25868327 | 25757973 | A | ACTCATTC others(793): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 284 | 0.0035 | 800 | c.655 others(819): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33894705 | C | CAGGCTGA others(793): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 7 | 0.1429 | 800 | c.446 others(819): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AVEN_chr15_33861227_34044204 | 33894705 | C | CAGGCTGA others(793): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02572.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0006a0004c0005t0007 | a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0035 others(9): Show |
12 | 18 | 0.6667 | 800 | c.446 others(819): Show |
AVEN | ENSG00000169857.9 | transcript | ENST00000306730.8 | protein_coding | 2/5 | chr15 | TogoVar | |||||||
AZU1_chr19_822837_837018 | 835488 | A | AGCCCCCA others(793): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0020 | 1 | 299 | 0.0033 | 800 | c.*36 others(811): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3471 | chr19 | TogoVar | |||||||
BSND_chr1_54993933_55022172 | 55003060 | G | GAGATGCT others(793): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0219 | a0001c0001t0219g0073 | 1 | 392 | 0.0026 | 800 | c.178 others(817): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 1/3 | chr1 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1080916 | G | GGTCCCTG others(793): Show |
downstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 207 | 0.0048 | 800 | c.*19 others(811): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 906 | chr1 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(793): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0014 | a0014c0084 | a0014c0084t0006 | a0014c0084t0006g0114 | 1 | 194 | 0.0052 | 800 | c.300 others(817): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CCBE1_chr18_59425939_59702423 | 59473808 | C | CACTATTT others(793): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01261.hp1 HG01515.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0015 | a0001c0001t0001g0023 a0001c0001t0004g0117 a0001c0001t0004g0134 others(1): Show |
4 | 5 | 0.8000 | 800 | c.266 others(817): Show |
CCBE1 | ENSG00000183287.15 | transcript | ENST00000439986.9 | protein_coding | 3/10 | chr18 | TogoVar | |||||||
CCN4_chr8_133186039_133236690 | 133214070 | C | CACTATAT others(793): Show |
intron_variant | MODIFIER | HG02965.hp2 HG02976.hp1 HG03516.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0024a0001c0002t0004 | a0001c0001t0005g0246 a0001c0001t0024g0252 a0001c0002t0004g0273 |
3 | 29 | 0.1034 | 800 | c.349 others(815): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CDC42BPA_chr1_226984865_227323492 | 227199277 | T | TGAAAAAC others(793): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0133 | 1 | 350 | 0.0029 | 800 | c.450 others(815): Show |
CDC42BPA | ENSG00000143776.20 | transcript | ENST00000366766.8 | protein_coding | 4/36 | chr1 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(793): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 | a0004 | a0004c0006 | a0004c0006t0004 | a0004c0006t0004g0198 | 1 | 66 | 0.0152 | 800 | c.-25 others(811): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065130 | A | ATAGTATT others(793): Show |
upstream_gene_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0067 | a0001c0067t0003 | a0001c0067t0003g0042 | 1 | 330 | 0.0030 | 800 | c.-26 others(811): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2265 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065194 | A | ATAGTATT others(793): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0062 | a0002c0002t0062g0075 | 1 | 315 | 0.0032 | 800 | c.-26 others(811): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2329 | chr11 | TogoVar | |||||||
CEP126_chr11_101910010_102006062 | 101925704 | G | GGTGCAGT others(793): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 38 | 0.0263 | 800 | c.248 others(817): 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(793): Show |
intron_variant | MODIFIER | HG01261.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0137 |
2 | 39 | 0.0513 | 800 | c.248 others(817): 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(793): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0030 | 1 | 38 | 0.0263 | 800 | c.248 others(817): 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(793): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0144 | 1 | 38 | 0.0263 | 800 | c.248 others(817): Show |
CEP126 | ENSG00000110318.15 | transcript | ENST00000263468.13 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(793): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0134 | 1 | 150 | 0.0067 | 800 | c.223 others(821): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
CFAP61_chr20_20047532_20365698 | 20337562 | A | ATGGATGG others(793): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18966.hp2 NA18969.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0002c0002t0002 | a0001c0001t0002g0194 a0001c0001t0006g0019 a0002c0002t0002g0159 |
3 | 170 | 0.0176 | 800 | c.342 others(819): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(793): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 2 | 0.5000 | 800 | c.138 others(819): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(793): Show |
downstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 93 | 0.0108 | 800 | c.*65 others(811): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(793): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0003 | a0001c0003t0032 | a0001c0003t0032g0120 | 1 | 2 | 0.5000 | 800 | c.162 others(821): 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(793): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0167 |
2 | 75 | 0.0267 | 800 | c.937 others(815): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(793): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0087 | 1 | 180 | 0.0056 | 800 | c.85- others(817): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COMMD9_chr11_36267292_36294424 | 36287046 | A | ATATGTAT others(793): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01256.hp1 HG01943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 a0001c0001t0001g0152 |
3 | 276 | 0.0109 | 800 | c.51+ others(815): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1198339 | C | CCCAGGAA others(793): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03453.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0001 | a0001c0002t0002g0011 a0001c0003t0001g0043 |
2 | 86 | 0.0233 | 800 | c.646 others(815): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 5/7 | chrX | TogoVar | |||||||
CTU2_chr16_88701503_88720396 | 88712963 | G | GCCCCCCT others(793): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0014 | 1 | 159 | 0.0063 | 800 | c.737 others(813): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933403 | A | AGGAGAGG others(793): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0215 | 1 | 203 | 0.0049 | 800 | c.198 others(815): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
D2HGDH_chr2_241729630_241773811 | 241766751 | A | AGAAGTTG others(793): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 | 2 | 400 | 0.0050 | 800 | c.130 others(817): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(793): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0127 | 1 | 97 | 0.0103 | 800 | c.923 others(819): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238175 | A | AGGGAGGG others(793): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0031 | 1 | 97 | 0.0103 | 800 | c.923 others(819): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 321734 | C | CCAGTGAG others(793): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0033 | 1 | 81 | 0.0123 | 800 | c.392 others(819): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 31/36 | chr10 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89619527 | T | TCCCCTCC others(793): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0051 | 1 | 246 | 0.0041 | 800 | c.-10 others(819): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
EXOC2_chr6_480154_698139 | 520426 | C | CCACCGAG others(793): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01175.hp2 HG01243.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0017 a0001c0001t0003g0202 a0001c0002t0001g0030 others(15): Show |
18 | 247 | 0.0729 | 800 | c.238 others(821): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(793): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0009 | 1 | 223 | 0.0045 | 800 | c.238 others(821): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(793): Show |
intron_variant | MODIFIER | NA18973.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 a0001c0001t0001g0142 |
2 | 224 | 0.0089 | 800 | c.238 others(821): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(793): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0110 a0001c0001t0015g0019 |
2 | 224 | 0.0089 | 800 | c.238 others(821): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(793): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0209 | 1 | 223 | 0.0045 | 800 | c.238 others(821): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(793): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0147 | 1 | 223 | 0.0045 | 800 | c.238 others(821): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(793): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0027 | 1 | 223 | 0.0045 | 800 | c.238 others(821): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520576 | C | CCACCGAG others(793): Show |
intron_variant | MODIFIER | NA19072.hp1 NA19074.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0080 |
2 | 224 | 0.0089 | 800 | c.238 others(821): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
F2_chr11_46714213_46744506 | 46721218 | A | ATTTTTAG others(793): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0186 | 1 | 276 | 0.0036 | 800 | c.316 others(815): Show |
F2 | ENSG00000180210.15 | transcript | ENST00000311907.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
F2_chr11_46714213_46744506 | 46721841 | A | ATTTTTTT others(793): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0183 | 1 | 309 | 0.0032 | 800 | c.316 others(817): Show |
F2 | ENSG00000180210.15 | transcript | ENST00000311907.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
F2_chr11_46714213_46744506 | 46721842 | T | TTTTTTTT others(793): Show |
intron_variant | MODIFIER | NA18954.hp1 NA19087.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0190 a0002c0002t0001g0191 |
2 | 347 | 0.0058 | 800 | c.317 others(817): Show |
F2 | ENSG00000180210.15 | transcript | ENST00000311907.10 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(793): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0224 | 1 | 270 | 0.0037 | 800 | c.-51 others(811): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar |