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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZP4_chr1_237877404_237895922 | 237883967 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01175.hp1 HG01975.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021a0001c0001t0001g0188a0001c0001t0001g0200others(4): Show | 8 | 448 | 0.0179 | -22 | c.139 others(39): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
ZP4_chr1_237877404_237895922 | 237883995 | CACACACA others(15): Show |
C | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG01934.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0081a0001c0001t0001g0144others(9): Show | 13 | 448 | 0.0290 | -22 | c.139 others(39): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
ZP4_chr1_237877404_237895922 | 237884011 | CACACAAA others(15): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG01978.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0109others(5): Show | 8 | 448 | 0.0179 | -22 | c.139 others(39): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 10/11 | chr1 | TogoVar | ||||||
ZPBP_chr7_49932441_50098246 | 49970466 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG03704.hp1 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0247 | 3 | 278 | 0.0108 | -22 | c.961 others(41): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 7/7 | chr7 | TogoVar | ||||||
ZPBP_chr7_49932441_50098246 | 49981673 | TATTATAT others(15): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01515.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0086a0001c0001t0001g0090a0001c0001t0001g0091others(26): Show | 29 | 278 | 0.1043 | -22 | c.961 others(39): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 7/7 | chr7 | TogoVar | ||||||
ZPBP_chr7_49932441_50098246 | 49987728 | TTGTGTGT others(15): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01074.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0072others(12): Show | 15 | 278 | 0.0540 | -22 | c.784 others(39): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 6/7 | chr7 | TogoVar | ||||||
ZPR1_chr11_116768799_116793023 | 116775627 | CAAAAAAA others(15): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00733.hp1 HG01255.hp2 HG01346.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0052a0001c0001t0106 | a0001c0001t0014g0011a0001c0001t0052g0136a0001c0001t0106g0069 | 10 | 460 | 0.0217 | -22 | c.*32 others(33): Show |
ZPR1 | ENSG00000109917.11 | transcript | ENST00000227322.8 | protein_coding | 14/14 | 3276 | chr11 | TogoVar | |||||
ZRANB3_chr2_135191969_135536218 | 135426851 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 214 | 0.0047 | -22 | c.162 others(41): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 2/20 | chr2 | TogoVar | ||||||
ZRANB3_chr2_135191969_135536218 | 135426863 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | NA18992.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0039 | 1 | 214 | 0.0047 | -22 | c.162 others(41): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 2/20 | chr2 | TogoVar | ||||||
ZRANB3_chr2_135191969_135536218 | 135493098 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01256.hp2 HG01884.hp1 others(13): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(6): Show | a0001c0001t0001g0131a0001c0001t0001g0158a0001c0001t0001g0172others(13): Show | 16 | 214 | 0.0748 | -22 | c.161 others(41): Show |
ZRANB3 | ENSG00000121988.18 | transcript | ENST00000264159.11 | protein_coding | 2/20 | chr2 | TogoVar | ||||||
ZSCAN18_chr19_58078856_58103231 | 58089302 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02572.hp1 others(2): Show |
a0001a0010 | a0001c0001a0010c0019 | a0001c0001t0001a0010c0019t0001 | a0001c0001t0001g0027a0001c0001t0001g0333a0010c0019t0001g0101 | 5 | 462 | 0.0108 | -22 | c.404 others(37): Show |
ZSCAN18 | ENSG00000121413.13 | transcript | ENST00000601144.6 | protein_coding | 2/6 | chr19 | TogoVar | ||||||
ZSWIM4_chr19_13790443_13837254 | 13800244 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0009 | a0001c0009t0007 | a0001c0009t0007g0338a0001c0009t0007g0339 | 2 | 356 | 0.0056 | -22 | c.355 others(37): Show |
ZSWIM4 | ENSG00000132003.10 | transcript | ENST00000590508.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZSWIM6_chr5_61327258_61551172 | 61355431 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01192.hp1 others(11): Show |
a0001a0004a0010 | a0001c0001a0001c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0003t0001a0004c0006t0001others(1): Show | a0001c0001t0001g0072a0001c0001t0001g0077a0001c0003t0001g0207others(11): Show | 14 | 276 | 0.0507 | -22 | c.676 others(41): Show |
ZSWIM6 | ENSG00000130449.6 | transcript | ENST00000252744.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ZSWIM7_chr17_15971560_16004704 | 15976090 | AAAAAAAA others(15): Show |
A | downstream_gene_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0191 | 1 | 344 | 0.0029 | -22 | c.*19 others(33): Show |
ZSWIM7 | ENSG00000214941.8 | transcript | ENST00000399277.6 | protein_coding | 469 | chr17 | TogoVar | ||||||
ZSWIM7_chr17_15971560_16004704 | 15976092 | AAAAAAAA others(15): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 344 | 0.0029 | -22 | c.*19 others(33): Show |
ZSWIM7 | ENSG00000214941.8 | transcript | ENST00000399277.6 | protein_coding | 467 | chr17 | TogoVar | ||||||
ZSWIM7_chr17_15971560_16004704 | 15976094 | AAAAAATA others(15): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035 | 1 | 344 | 0.0029 | -22 | c.*19 others(33): Show |
ZSWIM7 | ENSG00000214941.8 | transcript | ENST00000399277.6 | protein_coding | 465 | chr17 | TogoVar | ||||||
ZSWIM7_chr17_15971560_16004704 | 15976120 | TATATATA others(15): Show |
T | downstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0047 | 1 | 344 | 0.0029 | -22 | c.*19 others(33): Show |
ZSWIM7 | ENSG00000214941.8 | transcript | ENST00000399277.6 | protein_coding | 439 | chr17 | TogoVar | ||||||
ZWILCH_chr15_66500326_66555130 | 66509822 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp2 others(56): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0003 | a0001c0001t0001a0001c0001t0007a0001c0008t0001others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(53): Show | 59 | 410 | 0.1439 | -22 | c.105 others(37): Show |
ZWILCH | ENSG00000174442.12 | transcript | ENST00000307897.10 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ZWINT_chr10_56352227_56366259 | 56352421 | CGCCACCA others(15): Show |
C | downstream_gene_variant | MODIFIER | NA19240.hp2 NA20300.hp1 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0017 | 2 | 440 | 0.0046 | -22 | c.*57 others(33): Show |
ZWINT | ENSG00000122952.17 | transcript | ENST00000373944.8 | protein_coding | 4805 | chr10 | TogoVar | ||||||
ZWINT_chr10_56352227_56366259 | 56365723 | TATATACA others(15): Show |
T | upstream_gene_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0005 | 1 | 440 | 0.0023 | -22 | c.-45 others(33): Show |
ZWINT | ENSG00000122952.17 | transcript | ENST00000373944.8 | protein_coding | 4465 | chr10 | TogoVar | ||||||
ZYG11A_chr1_52837760_52899998 | 52842419 | ATGTGTGT others(15): Show |
A | upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0016 | a0001c0016t0004 | a0001c0016t0004g0137 | 1 | 290 | 0.0035 | -22 | c.-46 others(31): Show |
ZYG11A | ENSG00000203995.11 | transcript | ENST00000371528.2 | protein_coding | 340 | chr1 | TogoVar | ||||||
ZYG11A_chr1_52837760_52899998 | 52846308 | TTTTATAT others(15): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02109.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(1): Show | a0001c0001t0001g0261a0001c0001t0001g0283a0001c0001t0004g0023others(10): Show | 13 | 290 | 0.0448 | -22 | c.90+ others(37): Show |
ZYG11A | ENSG00000203995.11 | transcript | ENST00000371528.2 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52797104 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02895.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0034a0001c0001t0075a0001c0001t0076 | a0001c0001t0034g0179a0001c0001t0034g0182a0001c0001t0075g0158others(1): Show | 4 | 352 | 0.0114 | -22 | c.148 others(39): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52817799 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0235 | 1 | 352 | 0.0028 | -22 | c.204 others(41): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52817809 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0340 | 1 | 352 | 0.0028 | -22 | c.204 others(41): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52817811 | ATATATTT others(15): Show |
A | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0076 | 1 | 352 | 0.0028 | -22 | c.204 others(41): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52817813 | ATATTTTT others(15): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG01106.hp1 NA18971.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0048a0001c0001t0001g0049others(2): Show | 5 | 352 | 0.0142 | -22 | c.204 others(41): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZYG11B_chr1_52721453_52832336 | 52817815 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00738.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0027 | a0001c0001t0001g0090a0001c0001t0001g0111a0001c0001t0001g0113others(7): Show | 10 | 352 | 0.0284 | -22 | c.204 others(41): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZZEF1_chr17_3999445_4148030 | 4036801 | ACACACAC others(15): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0005 | a0005c0061 | a0005c0061t0005 | a0005c0061t0005g0239 | 1 | 296 | 0.0034 | -22 | c.630 others(41): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 39/54 | chr17 | TogoVar | ||||||
ZZEF1_chr17_3999445_4148030 | 4112033 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 296 | 0.0034 | -22 | c.106 others(39): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 5/54 | chr17 | TogoVar | ||||||
ZZEF1_chr17_3999445_4148030 | 4123268 | CATATATA others(15): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp2 HG02630.hp2 others(3): Show |
a0004 | a0004c0011 | a0004c0011t0003 | a0004c0011t0003g0251a0004c0011t0003g0252a0004c0011t0003g0253others(3): Show | 6 | 296 | 0.0203 | -22 | c.499 others(37): Show |
ZZEF1 | ENSG00000074755.15 | transcript | ENST00000381638.7 | protein_coding | 2/54 | chr17 | TogoVar |