| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4193): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 7 | 0.1429 | 4200 | c.507 others(4217): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(4193): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0241 | 1 | 250 | 0.0040 | 4200 | c.112 others(4217): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
| ZFPM1_chr16_88448280_88542031 | 88501188 | C | CATCCCGC others(4193): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0015 | a0015c0043 | a0015c0043t0008 | a0015c0043t0008g0205 | 1 | 296 | 0.0034 | 4200 | c.268 others(4219): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 3/9 | chr16 | TogoVar | |||||||
| DISC1_chr1_231621790_232046272 | 231799889 | T | TTCCCTCC others(4194): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 1 | 3 | 0.3333 | 4201 | c.169 others(4218): Show |
DISC1 | ENSG00000162946.24 | transcript | ENST00000439617.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4195): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0037 | 1 | 7 | 0.1429 | 4202 | c.507 others(4219): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4195): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 7 | 0.1429 | 4202 | c.507 others(4219): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4195): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0139 | 1 | 7 | 0.1429 | 4202 | c.507 others(4219): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4195): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0054 | 1 | 7 | 0.1429 | 4202 | c.507 others(4219): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4195): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02630.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0118 a0001c0001t0003g0102 a0001c0001t0004g0026 others(1): Show |
4 | 10 | 0.4000 | 4202 | c.507 others(4219): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4196): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 55 | 0.0182 | 4203 | c.891 others(4218): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
| SERINC2_chr1_31408213_31439678 | 31432123 | G | GATGGTTA others(4196): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 | 1 | 374 | 0.0027 | 4203 | c.101 others(4220): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
| SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(4196): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0169 | 1 | 160 | 0.0063 | 4203 | c.101 others(4220): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4197): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0092 | 1 | 7 | 0.1429 | 4204 | c.507 others(4221): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4197): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0039 | 1 | 7 | 0.1429 | 4204 | c.507 others(4221): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4197): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0141 | 1 | 7 | 0.1429 | 4204 | c.507 others(4221): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4197): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02647.hp2 HG02970.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0015others(2): Show | a0001c0001t0004g0055 a0001c0001t0008g0023 a0001c0001t0008g0142 others(3): Show |
6 | 12 | 0.5000 | 4204 | c.507 others(4221): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4198): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0011 | a0001c0011t0013 | a0001c0011t0013g0086 | 1 | 7 | 0.1429 | 4205 | c.507 others(4222): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| RTEL1_chr20_63653312_63701245 | 63693618 | T | TCCACCAC others(4198): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 42 | 0.0238 | 4205 | c.299 others(4222): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| TNFRSF6B_chr20_63691652_63703684 | 63693618 | T | TCCACCAC others(4198): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 25 | 0.0400 | 4205 | c.-31 others(4216): Show |
TNFRSF6B | ENSG00000243509.6 | transcript | ENST00000369996.3 | protein_coding | 3033 | chr20 | TogoVar | |||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4199): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 7 | 0.1429 | 4206 | c.507 others(4223): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4199): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0048 | 1 | 7 | 0.1429 | 4206 | c.507 others(4223): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4199): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 7 | 0.1429 | 4206 | c.507 others(4223): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4199): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0057 | 1 | 7 | 0.1429 | 4206 | c.507 others(4223): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4199): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 8 | 0.1250 | 4206 | c.-45 others(4215): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
| TMEM242_chr6_157284025_157328519 | 157311382 | G | GAGCACTC others(4200): Show |
intron_variant | MODIFIER | NA19009.hp1 NA19077.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0023 | a0001c0001t0016g0148 a0001c0001t0023g0145 |
2 | 281 | 0.0071 | 4207 | c.327 others(4224): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
| TMEM242_chr6_157284025_157328519 | 157311382 | G | GAGCACTC others(4200): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 280 | 0.0036 | 4207 | c.327 others(4224): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
| TMEM242_chr6_157284025_157328519 | 157311892 | G | GAGCACTC others(4200): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 337 | 0.0030 | 4207 | c.327 others(4224): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
| TMEM242_chr6_157284025_157328519 | 157311892 | G | GAGCACTC others(4200): Show |
intron_variant | MODIFIER | HG01256.hp2 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0041 |
2 | 338 | 0.0059 | 4207 | c.327 others(4224): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4201): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0052 | 1 | 7 | 0.1429 | 4208 | c.507 others(4225): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4201): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0038 | 1 | 7 | 0.1429 | 4208 | c.507 others(4225): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4201): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 7 | 0.1429 | 4208 | c.507 others(4225): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4201): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0119 | 1 | 7 | 0.1429 | 4208 | c.507 others(4225): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4201): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0039 | a0001c0001t0008g0007 a0001c0001t0039g0043 |
2 | 8 | 0.2500 | 4208 | c.507 others(4225): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4201): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 8 | 0.1250 | 4208 | c.-45 others(4217): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4202): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0134 | 1 | 7 | 0.1429 | 4209 | c.507 others(4226): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4202): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0063 | 1 | 7 | 0.1429 | 4209 | c.507 others(4226): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(4202): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0079 | a0079c0113 | a0079c0113t0056 | a0079c0113t0056g0279 | 1 | 32 | 0.0313 | 4209 | c.218 others(4224): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
| PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4202): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0018 | a0018c0037 | a0018c0037t0001 | a0018c0037t0001g0126 | 1 | 13 | 0.0769 | 4209 | c.215 others(4226): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(4202): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0049 | 1 | 34 | 0.0294 | 4209 | c.299 others(4224): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4203): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0127 | 1 | 7 | 0.1429 | 4210 | c.507 others(4227): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4203): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 7 | 0.1429 | 4210 | c.507 others(4227): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4203): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 7 | 0.1429 | 4210 | c.507 others(4227): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4203): Show |
intron_variant | MODIFIER | HG00735.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0053 | a0001c0001t0003g0097 a0001c0001t0053g0094 |
2 | 8 | 0.2500 | 4210 | c.507 others(4227): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(4203): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0034 | 1 | 13 | 0.0769 | 4210 | c.*13 others(4223): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | |||||||
| RTEL1_chr20_63653312_63701245 | 63693585 | A | ACCACCTC others(4204): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 50 | 0.0200 | 4211 | c.299 others(4228): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| ADCK5_chr8_144369047_144398242 | 144382058 | C | CAGGATTA others(4205): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 130 | 0.0077 | 4212 | c.117 others(4227): Show |
ADCK5 | ENSG00000173137.12 | transcript | ENST00000308860.11 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(4205): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 16 | 0.0625 | 4212 | c.164 others(4231): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4205): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0047 | 1 | 7 | 0.1429 | 4212 | c.507 others(4229): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4205): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 7 | 0.1429 | 4212 | c.507 others(4229): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
| CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4205): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 7 | 0.1429 | 4212 | c.507 others(4229): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |