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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2512): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0104 | 1 | 432 | 0.0023 | 2519 | c.103 others(2536): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2512): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0208 | 1 | 432 | 0.0023 | 2519 | c.103 others(2536): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2512): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0224 | 1 | 432 | 0.0023 | 2519 | c.103 others(2536): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2512): Show |
intron_variant | MODIFIER | NA18999.hp2 NA19057.hp1 NA19064.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0039 a0002c0003t0001g0219 |
3 | 432 | 0.0069 | 2519 | c.103 others(2536): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2512): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0122 | 1 | 432 | 0.0023 | 2519 | c.103 others(2536): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2512): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02258.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0033 | 2 | 432 | 0.0046 | 2519 | c.103 others(2536): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2512): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0288 | 1 | 432 | 0.0023 | 2519 | c.103 others(2536): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GTF3C6_chr6_110953706_110972872 | 110956985 | T | TAATTATT others(2512): Show |
upstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 346 | 0.0029 | 2519 | c.-17 others(2530): Show |
GTF3C6 | ENSG00000155115.7 | transcript | ENST00000329970.8 | protein_coding | 1720 | chr6 | TogoVar | |||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(2512): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02970.hp1 HG03195.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0004a0002c0002t0005a0002c0004t0005 | a0001c0001t0004g0047 a0002c0002t0005g0050 a0002c0002t0005g0158 others(1): Show |
4 | 168 | 0.0238 | 2519 | c.206 others(2540): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(2512): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 216 | 0.0046 | 2519 | c.-51 others(2538): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2512): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 272 | 0.0037 | 2519 | c.389 others(2538): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2512): Show |
intron_variant | MODIFIER | NA18970.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0188 a0001c0001t0007g0189 |
2 | 272 | 0.0074 | 2519 | c.389 others(2538): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2512): Show |
intron_variant | MODIFIER | HG01071.hp2 HG02717.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 a0001c0001t0001g0202 |
2 | 272 | 0.0074 | 2519 | c.389 others(2538): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2512): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 272 | 0.0037 | 2519 | c.389 others(2538): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2512): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 272 | 0.0037 | 2519 | c.389 others(2538): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2512): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0237 | 1 | 272 | 0.0037 | 2519 | c.389 others(2538): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2513): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0105 | 1 | 432 | 0.0023 | 2520 | c.103 others(2537): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2513): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0107 | 1 | 432 | 0.0023 | 2520 | c.103 others(2537): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2513): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0117 | 1 | 432 | 0.0023 | 2520 | c.103 others(2537): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2513): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0072 | 1 | 432 | 0.0023 | 2520 | c.103 others(2537): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262289 | T | TAGATCTA others(2513): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0045 | 1 | 290 | 0.0035 | 2520 | c.-95 others(2539): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2513): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0051 | 1 | 290 | 0.0035 | 2520 | c.-95 others(2539): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2513): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0075 | 1 | 290 | 0.0035 | 2520 | c.-95 others(2539): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2513): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0056 | 1 | 290 | 0.0035 | 2520 | c.-95 others(2539): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2513): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18973.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0065 a0002c0002t0002g0071 |
2 | 290 | 0.0069 | 2520 | c.-95 others(2539): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2513): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 316 | 0.0032 | 2520 | c.44- others(2533): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2513): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 316 | 0.0032 | 2520 | c.44- others(2533): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CYP4F11_chr19_15907377_15939529 | 15933883 | A | AGGAGAGG others(2513): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0002 | a0002c0001 | a0002c0001t0029 | a0002c0001t0029g0324 | 1 | 386 | 0.0026 | 2520 | c.198 others(2535): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355563 | G | GGAGGAAG others(2513): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 82 | 0.0122 | 2520 | c.757 others(2535): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
NKX1-1_chr4_1397932_1411442 | 1398347 | A | AGGGTGTT others(2513): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 382 | 0.0026 | 2520 | c.*45 others(2531): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4584 | chr4 | TogoVar | |||||||
NKX1-1_chr4_1397932_1411442 | 1398527 | A | AGGGTGTT others(2513): Show |
downstream_gene_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 382 | 0.0026 | 2520 | c.*44 others(2531): Show |
NKX1-1 | ENSG00000235608.2 | transcript | ENST00000422806.2 | protein_coding | 4404 | chr4 | TogoVar | |||||||
SNTG2_chr2_945849_1372613 | 1222717 | C | CGTCTCCC others(2513): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0004 | 1 | 190 | 0.0053 | 2520 | c.719 others(2539): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1222809 | C | CTGGAGGT others(2513): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0128 | 1 | 190 | 0.0053 | 2520 | c.719 others(2539): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2513): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0153 | 1 | 272 | 0.0037 | 2520 | c.389 others(2539): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2514): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 432 | 0.0023 | 2521 | c.103 others(2538): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2514): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18959.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 a0001c0001t0001g0275 |
2 | 432 | 0.0046 | 2521 | c.103 others(2538): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2514): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 432 | 0.0023 | 2521 | c.103 others(2538): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924459 | C | CCCCCACC others(2514): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02717.hp2 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0108 a0001c0001t0002g0171 a0001c0001t0009g0245 others(1): Show |
4 | 276 | 0.0145 | 2521 | c.58- others(2538): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2514): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 272 | 0.0037 | 2521 | c.389 others(2540): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2514): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0151 | 1 | 272 | 0.0037 | 2521 | c.389 others(2540): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2514): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 272 | 0.0037 | 2521 | c.389 others(2540): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2514): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 272 | 0.0037 | 2521 | c.389 others(2540): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2514): Show |
intron_variant | MODIFIER | HG04115.hp2 HG04228.hp1 |
a0001 | a0001c0001a0001c0023 | a0001c0001t0001a0001c0023t0001 | a0001c0001t0001g0156 a0001c0023t0001g0209 |
2 | 272 | 0.0074 | 2521 | c.389 others(2540): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2515): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258 | 1 | 434 | 0.0023 | 2522 | c.16+ others(2537): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2515): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18979.hp2 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0195 |
3 | 432 | 0.0069 | 2522 | c.103 others(2539): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT_chr5_79106809_79137288 | 79130726 | C | CAGGAATC others(2515): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 432 | 0.0023 | 2522 | c.103 others(2539): Show |
BHMT | ENSG00000145692.15 | transcript | ENST00000274353.10 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CFAP210_chr2_169640425_169699405 | 169685706 | T | TAAGTTTT others(2515): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02523.hp2 NA18946.hp2 others(2): Show |
a0001a0011 | a0001c0001a0011c0015 | a0001c0001t0003a0011c0015t0003 | a0001c0001t0003g0103 a0001c0001t0003g0105 a0001c0001t0003g0106 others(2): Show |
5 | 390 | 0.0128 | 2522 | c.68- others(2537): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(2515): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 175 | 0.0057 | 2522 | c.164 others(2541): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2515): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 316 | 0.0032 | 2522 | c.44- others(2535): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2515): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 316 | 0.0032 | 2522 | c.44- others(2535): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |