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 | 215814162 | AATTATAT others(28): Show |
A | intron_variant | MODIFIER | HG02004.hp2 | a0016 | a0016c0041 | a0016c0041t0004 | a0016c0041t0004g0026 | 1 | 72 | 0.0139 | -35 | c.957 others(52): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 48/71 | chr1 | TogoVar | |||||||
USP30_chr12_109047576_109093023 | 109083266 | TTTTGAAA others(28): Show |
T | intron_variant | MODIFIER | NA19077.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 394 | 0.0025 | -35 | c.116 others(52): Show |
USP30 | ENSG00000135093.13 | transcript | ENST00000257548.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
USP36_chr17_78790652_78845814 | 78802070 | ACCCGGTG others(28): Show |
A | intron_variant | MODIFIER | HG02523.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0085 | 1 | 384 | 0.0026 | -35 | c.302 others(52): Show |
USP36 | ENSG00000055483.20 | transcript | ENST00000449938.7 | protein_coding | 17/20 | chr17 | TogoVar | |||||||
USP37_chr2_218445251_218573351 | 218563851 | CGAGACCA others(28): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0178 | 1 | 280 | 0.0036 | -35 | c.-22 others(54): Show |
USP37 | ENSG00000135913.11 | transcript | ENST00000258399.8 | protein_coding | 1/25 | chr2 | TogoVar | |||||||
USP46_chr4_52585960_52664301 | 52632579 | GGGAGGCT others(28): Show |
G | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 190 | 0.0053 | -35 | c.37- others(50): Show |
USP46 | ENSG00000109189.13 | transcript | ENST00000441222.8 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
UTP20_chr12_101275105_101391618 | 101340937 | CTTTTTTT others(28): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0022 | a0022c0042 | a0022c0042t0001 | a0022c0042t0001g0063 | 1 | 7 | 0.1429 | -35 | c.410 others(52): Show |
UTP20 | ENSG00000120800.5 | transcript | ENST00000261637.5 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
UTP4_chr16_69127649_69174021 | 69172882 | AGAAGCTG others(28): Show |
A | downstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 290 | 0.0034 | -35 | c.*39 others(46): Show |
UTP4 | ENSG00000141076.18 | transcript | ENST00000314423.12 | protein_coding | 3862 | chr16 | TogoVar | |||||||
VAMP3_chr1_7766296_7786432 | 7775771 | ATTTACCC others(28): Show |
A | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 444 | 0.0023 | -35 | c.73- others(50): Show |
VAMP3 | ENSG00000049245.13 | transcript | ENST00000054666.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VAV2_chr9_133756894_133997324 | 133759681 | GGGGGAGG others(28): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(17): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0010a0001c0003t0006a0001c0004t0001others(13): Show | a0001c0002t0010g0186 a0001c0003t0006g0097 a0001c0003t0006g0160 others(17): Show |
20 | 198 | 0.1010 | -35 | c.*43 others(46): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 2212 | chr9 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133952853 | AGGGAGCA others(28): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0181 | 1 | 198 | 0.0051 | -35 | c.205 others(54): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 1/29 | chr9 | TogoVar | |||||||
VAV3_chr1_107566161_107970180 | 107848216 | GGCAGGAG others(28): Show |
G | intron_variant | MODIFIER | HG01978.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0110 | 1 | 208 | 0.0048 | -35 | c.321 others(54): Show |
VAV3 | ENSG00000134215.16 | transcript | ENST00000370056.9 | protein_coding | 2/26 | chr1 | TogoVar | |||||||
VCX_chrX_7838171_7849143 | 7844240 | GTGGGGAG others(28): Show |
G | downstream_gene_variant | MODIFIER | HG02809.hp2 HG03041.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 2 | 339 | 0.0059 | -35 | c.*22 others(44): Show |
VCX | ENSG00000182583.13 | transcript | ENST00000688183.1 | protein_coding | 98 | chrX | TogoVar | |||||||
VEGFA_chr6_43765211_43791487 | 43781327 | CTGGCTCC others(28): Show |
C | intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0158 | 1 | 444 | 0.0023 | -35 | c.103 others(52): Show |
VEGFA | ENSG00000112715.26 | transcript | ENST00000672860.3 | protein_coding | 6/7 | chr6 | TogoVar | |||||||
VIPR2_chr7_159023175_159149867 | 159093771 | CGCAGCGT others(28): Show |
C | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 334 | 0.0030 | -35 | c.357 others(52): Show |
VIPR2 | ENSG00000106018.14 | transcript | ENST00000262178.7 | protein_coding | 4/12 | chr7 | TogoVar | |||||||
VPS13B_chr8_99008274_99882580 | 99540037 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0010 | a0010c0025 | a0010c0025t0010 | a0010c0025t0010g0108 | 1 | 113 | 0.0088 | -35 | c.474 others(56): Show |
VPS13B | ENSG00000132549.20 | transcript | ENST00000357162.7 | protein_coding | 30/61 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12285960 | TTCCTTTC others(28): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0047 | 1 | 152 | 0.0066 | -35 | c.563 others(54): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 21/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS53_chr17_503668_719839 | 655475 | CGTCACTC others(28): Show |
C | intron_variant | MODIFIER | NA18612.hp2 NA18990.hp1 NA19011.hp2 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0021 a0003c0004t0004g0025 a0003c0004t0004g0026 |
3 | 230 | 0.0130 | -35 | c.488 others(50): Show |
VPS53 | ENSG00000141252.21 | transcript | ENST00000437048.7 | protein_coding | 6/21 | chr17 | TogoVar | |||||||
VSTM2A_chr7_54537375_54576067 | 54565066 | GAGTATAC others(28): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(219): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(114): Show |
222 | 380 | 0.5842 | -35 | c.635 others(52): Show |
VSTM2A | ENSG00000170419.11 | transcript | ENST00000402613.4 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
VWA1_chr1_1430690_1447882 | 1443673 | CTTTTTTT others(28): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG01258.hp1 HG02257.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0015others(3): Show | a0001c0001t0003g0003 a0001c0001t0008g0005 a0001c0001t0015g0005 others(3): Show |
11 | 13 | 0.8462 | -35 | c.*38 others(46): Show |
VWA1 | ENSG00000179403.12 | transcript | ENST00000476993.2 | protein_coding | 792 | chr1 | TogoVar | |||||||
VWA3A_chr16_22087541_22161964 | 22115898 | GAAGGAAG others(28): Show |
G | intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0083 | 1 | 266 | 0.0038 | -35 | c.815 others(50): Show |
VWA3A | ENSG00000175267.15 | transcript | ENST00000389398.10 | protein_coding | 9/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
VWA3B_chr2_98082167_98318299 | 98313108 | ACAGGTCA others(28): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0007 | a0005c0007t0019 | a0005c0007t0019g0059 | 1 | 238 | 0.0042 | -35 | c.*76 others(44): Show |
VWA3B | ENSG00000168658.20 | transcript | ENST00000477737.6 | protein_coding | 28/28 | 760 | chr2 | TogoVar | ||||||
VWA8_chr13_41561835_41966109 | 41841815 | AAAAAAAT others(28): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0006 | a0006c0007 | a0006c0007t0010 | a0006c0007t0010g0155 | 1 | 242 | 0.0041 | -35 | c.142 others(54): Show |
VWA8 | ENSG00000102763.18 | transcript | ENST00000379310.8 | protein_coding | 12/44 | chr13 | TogoVar | |||||||
WAPL_chr10_86430256_86526792 | 86453017 | CAAAAAAA others(28): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 a0001c0001t0001g0383 |
2 | 61 | 0.0328 | -35 | c.294 others(52): Show |
WAPL | ENSG00000062650.20 | transcript | ENST00000298767.10 | protein_coding | 14/18 | chr10 | TogoVar | |||||||
WASF2_chr1_27399230_27495167 | 27487513 | ATATTATA others(28): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 | 1 | 258 | 0.0039 | -35 | c.-44 others(52): Show |
WASF2 | ENSG00000158195.11 | transcript | ENST00000618852.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
WDR18_chr19_979345_999557 | 989131 | AAGAGCAT others(28): Show |
A | intron_variant | MODIFIER | HG01496.hp2 HG02809.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0080 a0002c0003t0001g0002 |
2 | 430 | 0.0047 | -35 | c.322 others(50): Show |
WDR18 | ENSG00000065268.11 | transcript | ENST00000585809.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
WDR18_chr19_979345_999557 | 989164 | TCCAGAGC others(28): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 428 | 0.0023 | -35 | c.322 others(50): Show |
WDR18 | ENSG00000065268.11 | transcript | ENST00000585809.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100464734 | CCATCTCA others(28): Show |
C | intron_variant | MODIFIER | HG02622.hp1 HG02809.hp1 HG02886.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0204 others(7): Show |
10 | 15 | 0.6667 | -35 | c.823 others(52): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
WDR27_chr6_169452212_169707029 | 169654697 | GAGGAGGA others(28): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG02280.hp2 others(7): Show |
a0002a0010 | a0002c0008a0010c0016 | a0002c0008t0003a0002c0008t0007a0010c0016t0007 | a0002c0008t0003g0197 a0002c0008t0003g0198 a0002c0008t0003g0199 others(7): Show |
10 | 292 | 0.0342 | -35 | c.140 others(54): Show |
WDR27 | ENSG00000184465.16 | transcript | ENST00000448612.6 | protein_coding | 13/25 | chr6 | TogoVar | |||||||
WDR4_chr21_42844226_42884539 | 42848469 | GCGGCGCA others(28): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00738.hp2 others(50): Show |
a0002a0004a0005 | a0002c0002a0004c0004a0005c0009 | a0002c0002t0003a0004c0004t0003a0005c0009t0003 | a0002c0002t0003g0003 a0002c0002t0003g0011 a0002c0002t0003g0032 others(37): Show |
53 | 397 | 0.1335 | -35 | c.*15 others(46): Show |
WDR4 | ENSG00000160193.12 | transcript | ENST00000398208.3 | protein_coding | 756 | chr21 | TogoVar | |||||||
WIZ_chr19_15414978_15454956 | 15425836 | GGGAGGAG others(28): Show |
G | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 168 | 0.0060 | -35 | c.436 others(51): Show |
WIZ | ENSG00000011451.21 | transcript | ENST00000673675.1 | protein_coding | 9/12 | chr19 | TogoVar | |||||||
WNT3A_chr1_228001998_228066271 | 228055170 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 371 | 0.0027 | -35 | c.580 others(52): Show |
WNT3A | ENSG00000154342.6 | transcript | ENST00000284523.2 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
WNT3_chr17_46757506_46823692 | 46823041 | TATTTATA others(28): Show |
T | upstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 280 | 0.0036 | -35 | c.-44 others(46): Show |
WNT3 | ENSG00000108379.11 | transcript | ENST00000225512.6 | protein_coding | 4350 | chr17 | TogoVar | |||||||
WNT3_chr17_46757506_46823692 | 46823061 | TTATAATA others(28): Show |
T | upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0275 | 1 | 278 | 0.0036 | -35 | c.-44 others(46): Show |
WNT3 | ENSG00000108379.11 | transcript | ENST00000225512.6 | protein_coding | 4370 | chr17 | TogoVar | |||||||
WNT6_chr2_218854805_218879233 | 218866558 | CACCAGTT others(28): Show |
C | intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 356 | 0.0028 | -35 | c.81- others(50): Show |
WNT6 | ENSG00000115596.4 | transcript | ENST00000233948.4 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
WRAP53_chr17_7683477_7708502 | 7699460 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0103 | 1 | 351 | 0.0028 | -35 | c.643 others(52): Show |
WRAP53 | ENSG00000141499.18 | transcript | ENST00000396463.7 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
WWOX_chr16_78094654_79217667 | 78723554 | CTTCTTTT others(28): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0101 | 1 | 62 | 0.0161 | -35 | c.105 others(58): Show |
WWOX | ENSG00000186153.19 | transcript | ENST00000566780.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
WWTR1_chr3_149512235_149663025 | 149579617 | GCTTGGGC others(28): Show |
G | intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 332 | 0.0030 | -35 | c.432 others(52): Show |
WWTR1 | ENSG00000018408.15 | transcript | ENST00000360632.8 | protein_coding | 2/6 | chr3 | TogoVar | |||||||
XDH_chr2_31329321_31419742 | 31343445 | TTATACAT others(28): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 NA19005.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0027 | a0001c0001t0001a0001c0002t0001a0002c0027t0001 | a0001c0001t0001g0134 a0001c0001t0001g0317 a0001c0002t0001g0286 others(1): Show |
4 | 368 | 0.0109 | -35 | c.340 others(54): Show |
XDH | ENSG00000158125.10 | transcript | ENST00000379416.4 | protein_coding | 31/35 | chr2 | TogoVar | |||||||
XPNPEP1_chr10_109859766_109928511 | 109916651 | CGAGAGTA others(28): Show |
C | intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 342 | 0.0029 | -35 | c.33- others(50): Show |
XPNPEP1 | ENSG00000108039.18 | transcript | ENST00000502935.6 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
XXYLT1_chr3_195063284_195276159 | 195185087 | AAGGAAGG others(28): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02615.hp1 HG02630.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0025 a0001c0001t0001g0083 a0001c0001t0001g0103 others(13): Show |
16 | 130 | 0.1231 | -35 | c.653 others(54): Show |
XXYLT1 | ENSG00000173950.16 | transcript | ENST00000310380.11 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
YARS1_chr1_32770239_32822358 | 32796996 | ATATATAT others(28): Show |
A | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 216 | 0.0046 | -35 | c.591 others(50): Show |
YARS1 | ENSG00000134684.13 | transcript | ENST00000373477.9 | protein_coding | 5/12 | chr1 | TogoVar | |||||||
YJU2_chr19_4242080_4274088 | 4247583 | GTGTGTGT others(28): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02129.hp1 NA18998.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057 a0001c0002t0001g0131 a0001c0002t0001g0132 |
3 | 261 | 0.0115 | -35 | c.24+ others(48): Show |
YJU2 | ENSG00000105248.16 | transcript | ENST00000262962.12 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
YWHAQ_chr2_9578967_9635997 | 9602843 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG02809.hp1 NA18977.hp1 NA18984.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0071 others(1): Show |
4 | 266 | 0.0150 | -35 | c.295 others(54): Show |
YWHAQ | ENSG00000134308.14 | transcript | ENST00000238081.8 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
YWHAQ_chr2_9578967_9635997 | 9602845 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 262 | 0.0038 | -35 | c.295 others(54): Show |
YWHAQ | ENSG00000134308.14 | transcript | ENST00000238081.8 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
YWHAQ_chr2_9578967_9635997 | 9602847 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 266 | 0.0038 | -35 | c.295 others(54): Show |
YWHAQ | ENSG00000134308.14 | transcript | ENST00000238081.8 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
YWHAQ_chr2_9578967_9635997 | 9602849 | AAAAAAAA others(28): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 269 | 0.0037 | -35 | c.295 others(54): Show |
YWHAQ | ENSG00000134308.14 | transcript | ENST00000238081.8 | protein_coding | 2/5 | chr2 | TogoVar | |||||||
ZAN_chr7_100728595_100802797 | 100787939 | GGCTTCAG others(28): Show |
G | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(48): Show |
a0002a0010a0012others(9): Show | a0002c0003a0002c0032a0002c0070others(15): Show | a0002c0003t0001a0002c0032t0001a0002c0070t0001others(15): Show | a0002c0003t0001g0055 a0002c0003t0001g0061 a0002c0003t0001g0108 others(48): Show |
51 | 306 | 0.1667 | -35 | c.703 others(44): Show |
p.Phe others(6): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 38/48 | 7228/8700 | 7032/8439 | 2344/2812 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
ZC3H3_chr8_143432659_143546447 | 143492742 | CTCCCGTG others(28): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0075 | 1 | 282 | 0.0035 | -35 | c.171 others(56): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 4/11 | chr8 | TogoVar | |||||||
ZC3H3_chr8_143432659_143546447 | 143492847 | GTCCCGTG others(28): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG00621.hp2 others(31): Show |
a0003a0006 | a0003c0003a0003c0042a0006c0006 | a0003c0003t0002a0003c0042t0002a0006c0006t0001others(1): Show | a0003c0003t0002g0078 a0003c0003t0002g0079 a0003c0003t0002g0081 others(31): Show |
34 | 175 | 0.1943 | -35 | c.171 others(56): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 4/11 | chr8 | TogoVar | |||||||
ZC3H6_chr2_112270597_112345059 | 112338878 | TATATATA others(28): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0004 | a0004c0005 | a0004c0005t0010 | a0004c0005t0010g0034 | 2 | 286 | 0.0070 | -35 | c.*63 others(46): Show |
ZC3H6 | ENSG00000188177.15 | transcript | ENST00000409871.6 | protein_coding | 12/12 | 6393 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |