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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
USH2A_chr1_215617891_216428448 | 216050566 | T | TTCTTCCT others(98): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0064 | a0064c0048 | a0064c0048t0007 | a0064c0048t0007g0015 | 1 | 74 | 0.0135 | 105 | c.605 others(124): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 30/71 | chr1 | TogoVar | |||||||
USP25_chr21_15724982_15885064 | 15762129 | T | TAAAAAAG others(98): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00558.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0012 | a0001c0001t0001a0001c0003t0001a0001c0012t0001 | a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0003t0001g0071 others(11): Show |
14 | 200 | 0.0700 | 105 | c.46- others(118): Show |
USP25 | ENSG00000155313.16 | transcript | ENST00000400183.7 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
USP30_chr12_109047576_109093023 | 109055400 | A | ATATATAT others(98): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 396 | 0.0025 | 105 | c.84- others(120): Show |
USP30 | ENSG00000135093.13 | transcript | ENST00000257548.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
USP30_chr12_109047576_109093023 | 109055400 | A | ATATATAT others(98): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 396 | 0.0025 | 105 | c.84- others(120): Show |
USP30 | ENSG00000135093.13 | transcript | ENST00000257548.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
USP30_chr12_109047576_109093023 | 109055400 | A | ATATATAT others(98): Show |
intron_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 396 | 0.0025 | 105 | c.84- others(120): Show |
USP30 | ENSG00000135093.13 | transcript | ENST00000257548.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
USP30_chr12_109047576_109093023 | 109055400 | A | ATATATAT others(98): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 396 | 0.0025 | 105 | c.84- others(120): Show |
USP30 | ENSG00000135093.13 | transcript | ENST00000257548.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VAV3_chr1_107566161_107970180 | 107952468 | T | TTTATATA others(98): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0013 | a0013c0018 | a0013c0018t0004 | a0013c0018t0004g0037 | 1 | 210 | 0.0048 | 105 | c.204 others(124): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 1/26 | chr1 | TogoVar | |||||||
VAV3_chr1_107566161_107970180 | 107952468 | T | TTTATATA others(98): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0007 | a0007c0021 | a0007c0021t0007 | a0007c0021t0007g0103 | 1 | 210 | 0.0048 | 105 | c.204 others(124): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 1/26 | chr1 | TogoVar | |||||||
VEGFB_chr11_64229584_64244264 | 64237123 | G | GAGAGAGA others(98): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0121 | 1 | 328 | 0.0031 | 105 | c.375 others(118): Show |
VEGFB | ENSG00000173511.10 | transcript | ENST00000309422.7 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
WDPCP_chr2_63114559_63593477 | 63575460 | T | TGTATGCA others(98): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01515.hp1 HG01517.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0022a0001c0002t0005 | a0001c0001t0003g0135 a0001c0001t0003g0137 a0001c0001t0003g0154 others(2): Show |
5 | 216 | 0.0232 | 105 | c.75+ others(122): Show |
WDPCP | ENSG00000143951.16 | transcript | ENST00000272321.12 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
XPR1_chr1_180627022_180895279 | 180656456 | T | TTATATAT others(98): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00735.hp2 others(49): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0036a0001c0001t0038others(3): Show | a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 others(49): Show |
52 | 330 | 0.1576 | 105 | c.69+ others(122): Show |
XPR1 | ENSG00000143324.14 | transcript | ENST00000367590.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZBTB46_chr20_63738670_63836264 | 63747498 | T | TCGGGGGG others(98): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02559.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0008a0001c0008t0008 | a0001c0001t0008g0208 a0001c0008t0008g0011 |
2 | 316 | 0.0063 | 105 | c.139 others(122): Show |
ZBTB46 | ENSG00000130584.12 | transcript | ENST00000245663.9 | protein_coding | 4/4 | chr20 | TogoVar | |||||||
ZC3H3_chr8_143432659_143546447 | 143492707 | G | GTCCCGTG others(98): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03041.hp2 HG03486.hp2 others(2): Show |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0161 a0007c0008t0001g0170 a0007c0008t0001g0171 others(2): Show |
5 | 352 | 0.0142 | 105 | c.171 others(126): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 4/11 | chr8 | TogoVar | |||||||
ZC3H3_chr8_143432659_143546447 | 143492882 | C | CTCCCGTG others(98): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0169 | 1 | 352 | 0.0028 | 105 | c.171 others(126): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 4/11 | chr8 | TogoVar | |||||||
ZC3H3_chr8_143432659_143546447 | 143492987 | C | CTCCCGTG others(98): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG01099.hp2 others(13): Show |
a0004a0032a0033 | a0004c0005a0004c0015a0032c0031others(1): Show | a0004c0005t0001a0004c0005t0002a0004c0005t0004others(3): Show | a0004c0005t0001g0189 a0004c0005t0001g0190 a0004c0005t0001g0191 others(13): Show |
16 | 352 | 0.0455 | 105 | c.171 others(126): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 4/11 | chr8 | TogoVar | |||||||
ZC3H3_chr8_143432659_143546447 | 143493022 | C | GTCCCGTG others(98): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01123.hp2 HG01169.hp1 others(17): Show |
a0004a0009a0015others(2): Show | a0004c0005a0004c0015a0009c0014others(3): Show | a0004c0005t0001a0004c0005t0002a0004c0005t0004others(5): Show | a0004c0005t0001g0003 a0004c0005t0001g0200 a0004c0005t0001g0205 others(16): Show |
20 | 352 | 0.0568 | 105 | c.171 others(126): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 4/11 | chr8 | TogoVar | |||||||
ZC3H3_chr8_143432659_143546447 | 143493162 | G | GTCCCGTG others(98): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0195 | 1 | 352 | 0.0028 | 105 | c.171 others(126): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 4/11 | chr8 | TogoVar | |||||||
ZFPM1_chr16_88448280_88542031 | 88460922 | C | CGGGAGGC others(98): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0193 | 1 | 318 | 0.0031 | 105 | c.40+ others(120): Show |
ZFPM1 | ENSG00000179588.9 | transcript | ENST00000319555.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZNF280D_chr15_56625176_56738509 | 56669938 | A | ATATATAT others(98): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 386 | 0.0026 | 105 | c.141 others(122): Show |
ZNF280D | ENSG00000137871.21 | transcript | ENST00000267807.12 | protein_coding | 13/21 | chr15 | TogoVar | |||||||
ZNF280D_chr15_56625176_56738509 | 56670012 | A | ATATATAT others(98): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 386 | 0.0026 | 105 | c.141 others(124): Show |
ZNF280D | ENSG00000137871.21 | transcript | ENST00000267807.12 | protein_coding | 13/21 | chr15 | TogoVar | |||||||
ZNF407_chr18_74592870_75070671 | 75012257 | A | ATACACAT others(98): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0004 | a0004c0008 | a0004c0008t0008 | a0004c0008t0008g0018 | 1 | 92 | 0.0109 | 105 | c.542 others(126): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ZNF423_chr16_49482524_49861112 | 49677242 | A | AGAAGAGA others(98): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 196 | 0.0051 | 105 | c.302 others(124): Show |
ZNF423 | ENSG00000102935.12 | transcript | ENST00000563137.7 | protein_coding | 3/7 | chr16 | TogoVar | |||||||
ZNF423_chr16_49482524_49861112 | 49677247 | A | AGAAGAGA others(98): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 196 | 0.0051 | 105 | c.302 others(124): Show |
ZNF423 | ENSG00000102935.12 | transcript | ENST00000563137.7 | protein_coding | 3/7 | chr16 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76392558 | C | CGTGAGGG others(98): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0021 | a0001c0021t0200 | a0001c0021t0200g0303 | 1 | 346 | 0.0029 | 105 | c.181 others(126): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF532_chr18_58859877_58991480 | 58888876 | T | TATATAAT others(98): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02145.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0152 |
2 | 354 | 0.0057 | 105 | c.-18 others(124): Show |
ZNF532 | ENSG00000074657.14 | transcript | ENST00000591808.6 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
ZNF544_chr19_58223914_58268644 | 58241179 | A | AAATATAT others(98): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0245 | 1 | 394 | 0.0025 | 105 | c.-59 others(122): Show |
ZNF544 | ENSG00000198131.15 | transcript | ENST00000687789.1 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ZNF544_chr19_58223914_58268644 | 58241179 | A | AAATATAT others(98): Show |
intron_variant | MODIFIER | HG02293.hp2 NA20129.hp1 |
a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0018 | 2 | 394 | 0.0051 | 105 | c.-59 others(122): Show |
ZNF544 | ENSG00000198131.15 | transcript | ENST00000687789.1 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ZNF544_chr19_58223914_58268644 | 58241179 | A | AAATATAT others(98): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0203 | 1 | 394 | 0.0025 | 105 | c.-59 others(122): Show |
ZNF544 | ENSG00000198131.15 | transcript | ENST00000687789.1 | protein_coding | 3/6 | chr19 | TogoVar | |||||||
ZNF573_chr19_37733302_37784586 | 37751748 | T | TATAGACA others(98): Show |
intron_variant | MODIFIER | NA18954.hp1 NA18975.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0170 a0002c0002t0002g0195 |
2 | 350 | 0.0057 | 105 | c.296 others(124): Show |
ZNF573 | ENSG00000189144.15 | transcript | ENST00000536220.7 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
ZNF644_chr1_90910304_91027035 | 90950292 | A | AAGGGGAG others(98): Show |
intron_variant | MODIFIER | HG02523.hp1 HG02896.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0003 | a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0092 others(1): Show |
4 | 314 | 0.0127 | 105 | c.45- others(120): Show |
ZNF644 | ENSG00000122482.22 | transcript | ENST00000337393.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
ZNF644_chr1_90910304_91027035 | 90950292 | A | AAGGGGAG others(98): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 a0001c0001t0001g0168 |
2 | 314 | 0.0064 | 105 | c.45- others(120): Show |
ZNF644 | ENSG00000122482.22 | transcript | ENST00000337393.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
ZNF644_chr1_90910304_91027035 | 90950292 | A | AAGGGGAG others(98): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02155.hp1 HG02155.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0053 a0001c0001t0001g0158 a0001c0001t0001g0215 others(1): Show |
4 | 314 | 0.0127 | 105 | c.45- others(120): Show |
ZNF644 | ENSG00000122482.22 | transcript | ENST00000337393.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
ZNF644_chr1_90910304_91027035 | 90950307 | G | GAGGGCAG others(98): Show |
intron_variant | MODIFIER | NA18982.hp1 NA19055.hp2 NA19072.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0093 a0001c0001t0001g0104 a0001c0001t0004g0088 |
3 | 314 | 0.0096 | 105 | c.45- others(120): Show |
ZNF644 | ENSG00000122482.22 | transcript | ENST00000337393.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
ZNF644_chr1_90910304_91027035 | 90950307 | G | GAGGGCAG others(98): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00673.hp2 HG01934.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012 | a0001c0001t0003g0086 a0001c0001t0003g0118 a0001c0001t0003g0262 others(1): Show |
4 | 314 | 0.0127 | 105 | c.45- others(120): Show |
ZNF644 | ENSG00000122482.22 | transcript | ENST00000337393.10 | protein_coding | 2/5 | chr1 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23761921 | T | TTTCTTTC others(98): Show |
upstream_gene_variant | MODIFIER | NA19056.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0232 | 1 | 394 | 0.0025 | 105 | c.-31 others(116): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3031 | chr19 | TogoVar | |||||||
ZNF681_chr19_23734195_23763891 | 23761921 | T | TTTCTTTC others(98): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0008 | a0008c0009 | a0008c0009t0007 | a0008c0009t0007g0213 | 1 | 394 | 0.0025 | 105 | c.-31 others(116): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 3031 | chr19 | TogoVar | |||||||
ZNF77_chr19_2928218_2949971 | 2939008 | C | CGCAGTGA others(98): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 a0001c0001t0001g0254 |
2 | 448 | 0.0045 | 105 | c.130 others(120): Show |
ZNF77 | ENSG00000175691.9 | transcript | ENST00000314531.5 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
ZNF77_chr19_2928218_2949971 | 2939064 | T | TCCTTACC others(98): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG02559.hp2 others(4): Show |
a0001a0003a0014 | a0001c0004a0003c0005a0014c0029 | a0001c0004t0003a0003c0005t0002a0003c0005t0005others(1): Show | a0001c0004t0003g0052 a0001c0004t0003g0055 a0003c0005t0002g0060 others(4): Show |
7 | 448 | 0.0156 | 105 | c.130 others(120): Show |
ZNF77 | ENSG00000175691.9 | transcript | ENST00000314531.5 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
ZNF77_chr19_2928218_2949971 | 2939113 | G | GGCAGTGA others(98): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02723.hp1 HG03490.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0169 a0001c0001t0004g0177 a0001c0001t0004g0238 others(3): Show |
6 | 448 | 0.0134 | 105 | c.130 others(120): Show |
ZNF77 | ENSG00000175691.9 | transcript | ENST00000314531.5 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
ZNF77_chr19_2928218_2949971 | 2939235 | G | GCCACCCT others(98): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02683.hp1 NA18941.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 a0001c0001t0001g0311 a0001c0001t0001g0338 others(1): Show |
4 | 448 | 0.0089 | 105 | c.130 others(118): Show |
ZNF77 | ENSG00000175691.9 | transcript | ENST00000314531.5 | protein_coding | 2/3 | chr19 | TogoVar | |||||||
ZNF7_chr8_144822560_144848772 | 144838976 | T | TCTTACTT others(98): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01168.hp1 HG01192.hp2 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0023a0001c0004t0031a0001c0004t0036others(2): Show | a0001c0004t0023g0014 a0001c0004t0023g0155 a0001c0004t0023g0156 others(5): Show |
9 | 438 | 0.0206 | 105 | c.247 others(122): Show |
ZNF7 | ENSG00000147789.16 | transcript | ENST00000532777.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZNF7_chr8_144822560_144848772 | 144838976 | T | TCTTACTT others(98): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG00738.hp1 others(7): Show |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0004a0002c0001t0011a0002c0001t0109 | a0001c0003t0004g0151 a0002c0001t0011g0016 a0002c0001t0011g0017 others(1): Show |
10 | 438 | 0.0228 | 105 | c.247 others(122): Show |
ZNF7 | ENSG00000147789.16 | transcript | ENST00000532777.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZNF7_chr8_144822560_144848772 | 144839100 | C | CGCCTAGG others(98): Show |
intron_variant | MODIFIER | HG03579.hp2 NA19030.hp2 |
a0002 | a0002c0001 | a0002c0001t0047a0002c0001t0094 | a0002c0001t0047g0113 a0002c0001t0094g0125 |
2 | 438 | 0.0046 | 105 | c.247 others(122): Show |
ZNF7 | ENSG00000147789.16 | transcript | ENST00000532777.6 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZP3_chr7_76419950_76447069 | 76423021 | G | GAGAGAGA others(98): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0245 | 1 | 424 | 0.0024 | 105 | c.-19 others(116): Show |
ZP3 | ENSG00000188372.15 | transcript | ENST00000394857.8 | protein_coding | 1928 | chr7 | TogoVar | |||||||
ZPBP_chr7_49932441_50098246 | 49982071 | T | TGGATTAT others(98): Show |
intron_variant | MODIFIER | NA18954.hp2 NA19005.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0123 a0001c0001t0001g0242 a0001c0001t0002g0265 |
3 | 278 | 0.0108 | 105 | c.961 others(122): Show |
ZPBP | ENSG00000042813.8 | transcript | ENST00000046087.7 | protein_coding | 7/7 | chr7 | TogoVar | |||||||
ZSCAN5A_chr19_56216303_56319839 | 56235250 | T | TCTCCACT others(98): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0339 | 1 | 362 | 0.0028 | 105 | c.-12 others(126): Show |
ZSCAN5A | ENSG00000131848.10 | transcript | ENST00000683990.1 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81139507 | A | ACCACACA others(99): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02615.hp2 others(9): Show |
a0003a0004a0005others(4): Show | a0003c0028a0004c0067a0005c0006others(5): Show | a0003c0028t0001a0004c0067t0001a0005c0006t0003others(5): Show | a0003c0028t0001g0281 a0003c0028t0001g0323 a0004c0067t0001g0200 others(8): Show |
12 | 368 | 0.0326 | 106 | c.56- others(121): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134251 | T | TGTATATA others(99): Show |
intron_variant | MODIFIER | HG02257.hp2 HG03130.hp1 |
a0001 | a0001c0012a0001c0068 | a0001c0012t0014a0001c0068t0003 | a0001c0012t0014g0015 a0001c0068t0003g0016 |
2 | 198 | 0.0101 | 106 | c.69+ others(121): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862701 | G | GGCCGGCC others(99): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0005 | a0005c0039 | a0005c0039t0017 | a0005c0039t0017g0018 | 1 | 318 | 0.0031 | 106 | c.422 others(121): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1049906 | C | CGGACCAC others(99): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0018 | a0018c0003 | a0018c0003t0002 | a0018c0003t0002g0006 | 1 | 30 | 0.0333 | 106 | c.255 others(123): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | TogoVar |