| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DACT2_chr6_168301904_168324777 | 168316373 | CCATGTGT others(1604): Show |
C | intron_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0003 | a0002c0003t0006 | a0002c0003t0006g0263 | 1 | 469 | 0.0021 | -1611 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
| PDS5A_chr4_39817863_39982911 | 39969582 | CTTGAACC others(1604): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0110 | 1 | 354 | 0.0028 | -1611 | c.138 others(17): Show |
PDS5A | ENSG00000121892.15 | transcript | ENST00000303538.13 | protein_coding | 2/32 | chr4 | TogoVar | |||||||
| EPB41_chr1_28909569_29125041 | 29022571 | ATTAGCCA others(1602): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0160 a0001c0001t0015g0175 |
2 | 310 | 0.0065 | -1609 | c.112 others(19): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 7/20 | chr1 | TogoVar | |||||||
| TCEA3_chr1_23375909_23429748 | 23409658 | CTGCCTCA others(1602): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG04184.hp2 NA19012.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 others(1): Show |
4 | 376 | 0.0106 | -1609 | c.381 others(16): Show |
TCEA3 | ENSG00000204219.11 | transcript | ENST00000450454.7 | protein_coding | 4/10 | chr1 | TogoVar | |||||||
| ZNF516_chr18_76352682_76500242 | 76393002 | GGGCAGGT others(1602): Show |
G | intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0333 | 1 | 279 | 0.0036 | -1609 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
| ZNF516_chr18_76352682_76500242 | 76393121 | AGGTGGTC others(1602): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 336 | 0.0030 | -1609 | c.181 others(21): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
| CSMD1_chr8_2930361_4999914 | 4655048 | AGCTTAAA others(1601): Show |
A | intron_variant | MODIFIER | HG03540.hp2 NA18522.hp2 |
a0002a0031 | a0002c0072a0031c0113 | a0002c0072t0003a0031c0113t0013 | a0002c0072t0003g0066 a0031c0113t0013g0043 |
2 | 126 | 0.0159 | -1608 | c.86- others(17): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar | |||||||
| DACT2_chr6_168301904_168324777 | 168316376 | TGTGTGTA others(1601): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(38): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0032 a0001c0001t0001g0055 others(19): Show |
41 | 406 | 0.1010 | -1608 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
| DACT2_chr6_168301904_168324777 | 168316459 | GCATCTCA others(1601): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02630.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0006 | a0001c0001t0002a0002c0003t0010a0004c0006t0003 | a0001c0001t0002g0072 a0002c0003t0010g0125 a0004c0006t0003g0011 others(5): Show |
11 | 474 | 0.0232 | -1608 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
| EPPK1_chr8_143852324_143883467 | 143859204 | CGCTCACG others(1601): Show |
C | conservative_inframe_deletion | MODERATE | HG02280.hp1 HG02970.hp2 NA18747.hp2 |
a0002a0109a0135 | a0002c0002a0109c0212a0135c0226 | a0002c0002t0001a0109c0212t0003a0135c0226t0002 | a0002c0002t0001g0059 a0109c0212t0003g0184 a0135c0226t0002g0304 |
3 | 415 | 0.0072 | -1608 | c.124 others(11): Show |
p.Arg others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 14124/16005 | 12442/15267 | 4148/5088 | chr8 | TogoVar | |||
| EPPK1_chr8_143852324_143883467 | 143863761 | GGGCGGCG others(1601): Show |
G | conservative_inframe_deletion | MODERATE | HG01358.hp2 HG01978.hp2 HG01981.hp2 others(4): Show |
a0001a0007a0009others(1): Show | a0001c0004a0007c0142a0009c0095others(1): Show | a0001c0004t0001a0007c0142t0001a0009c0095t0001others(1): Show | a0001c0004t0001g0004 a0007c0142t0001g0081 a0009c0095t0001g0209 others(1): Show |
7 | 300 | 0.0233 | -1608 | c.788 others(9): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9567/16005 | 7885/15267 | 2629/5088 | chr8 | TogoVar | |||
| EPPK1_chr8_143852324_143883467 | 143864197 | TTCCACGG others(1601): Show |
T | disruptive_inframe_deletion | MODERATE | HG00639.hp2 HG06807.hp1 |
a0002a0008 | a0002c0002a0008c0008 | a0002c0002t0001a0008c0008t0001 | a0002c0002t0001g0225 a0008c0008t0001g0026 |
2 | 244 | 0.0082 | -1608 | c.744 others(9): Show |
p.Glu others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9131/16005 | 7449/15267 | 2483/5088 | chr8 | TogoVar | |||
| SMYD3_chr1_245744347_246512279 | 245974697 | GGCCCAGG others(1601): Show |
G | intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 119 | 0.0084 | -1608 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
| SMYD3_chr1_245744347_246512279 | 245974821 | CAGGGAAA others(1601): Show |
C | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 128 | 0.0078 | -1608 | c.532 others(19): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
| SYTL2_chr11_85689229_85816141 | 85791615 | CTTTTGTA others(1601): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG03471.hp2 HG03540.hp1 |
a0001a0010 | a0001c0001a0010c0031 | a0001c0001t0002a0010c0031t0001 | a0001c0001t0002g0154 a0001c0001t0002g0155 a0010c0031t0001g0045 |
3 | 364 | 0.0082 | -1608 | c.-39 others(21): Show |
SYTL2 | ENSG00000137501.18 | transcript | ENST00000359152.10 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
| UBXN8_chr8_30739164_30772006 | 30746423 | GATATTCA others(1601): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00733.hp1 others(61): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(40): Show |
64 | 272 | 0.2353 | -1608 | c.88+ others(15): Show |
UBXN8 | ENSG00000104691.16 | transcript | ENST00000265616.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| APOBEC3A_chr22_38952609_38968184 | 38964531 | GGGGCCCC others(1600): Show |
G | downstream_gene_variant | MODIFIER | NA18971.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 2 | 358 | 0.0056 | -1607 | c.*20 others(11): Show |
APOBEC3A | ENSG00000128383.14 | transcript | ENST00000249116.7 | protein_coding | 1348 | chr22 | TogoVar | |||||||
| ARHGAP24_chr4_85470150_86007666 | 85650149 | GAGAATTA others(1600): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(5): Show | a0001c0001t0001g0032 a0001c0001t0001g0094 a0001c0001t0005g0035 others(7): Show |
10 | 108 | 0.0926 | -1607 | c.181 others(19): Show |
ARHGAP24 | ENSG00000138639.18 | transcript | ENST00000395184.6 | protein_coding | 2/9 | chr4 | TogoVar | |||||||
| DDX10_chr11_108660069_108945927 | 108931790 | TCCTAATT others(1600): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0290 | 1 | 318 | 0.0031 | -1607 | c.245 others(19): Show |
DDX10 | ENSG00000178105.12 | transcript | ENST00000322536.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| DACT2_chr6_168301904_168324777 | 168316238 | CCAGCATC others(1599): Show |
C | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 429 | 0.0023 | -1606 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
| DACT2_chr6_168301904_168324777 | 168316357 | AGCAGCAC others(1599): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00609.hp1 others(52): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0011a0002c0002others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0011t0002others(15): Show | a0001c0001t0001g0033 a0001c0001t0001g0190 a0001c0001t0001g0202 others(38): Show |
55 | 369 | 0.1491 | -1606 | c.246 others(17): Show |
DACT2 | ENSG00000164488.12 | transcript | ENST00000366795.4 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
| SNRPC_chr6_34752505_34778857 | 34754663 | ACTGTAAT others(1598): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 366 | 0.0027 | -1605 | c.-28 others(11): Show |
SNRPC | ENSG00000124562.10 | transcript | ENST00000244520.10 | protein_coding | 2841 | chr6 | TogoVar | |||||||
| ADARB2_chr10_1172313_1742525 | 1237973 | TCTGCCTC others(1597): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0039 | a0001c0003t0039g0044 | 1 | 97 | 0.0103 | -1604 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
| EPPK1_chr8_143852324_143883467 | 143859419 | GCCCGGTA others(1596): Show |
G | frameshift_variant | HIGH | NA18942.hp2 | a0138 | a0138c0176 | a0138c0176t0005 | a0138c0176t0005g0153 | 1 | 422 | 0.0024 | -1603 | c.122 others(11): Show |
p.Ala others(6): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13909/16005 | 12232/15267 | 4078/5088 | chr8 | TogoVar | |||
| NEDD8_chr14_24211857_24237367 | 24226232 | TTGTAATC others(1596): Show |
T | intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 416 | 0.0024 | -1603 | c.18+ others(15): Show |
NEDD8 | ENSG00000129559.13 | transcript | ENST00000250495.10 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
| RAB40B_chr17_82649973_82703698 | 82694108 | ACTCCAAA others(1596): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02896.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 |
3 | 336 | 0.0089 | -1603 | c.142 others(17): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
| EPPK1_chr8_143852324_143883467 | 143859329 | TCGGCCTC others(1595): Show |
T | disruptive_inframe_deletion | MODERATE | HG00558.hp1 NA18956.hp1 NA18975.hp1 others(2): Show |
a0001a0054 | a0001c0001a0054c0202 | a0001c0001t0001a0001c0001t0005a0054c0202t0001 | a0001c0001t0001g0001 a0001c0001t0005g0029 a0054c0202t0001g0180 |
5 | 410 | 0.0122 | -1602 | c.123 others(11): Show |
p.Gly others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13999/16005 | 12323/15267 | 4108/5088 | chr8 | TogoVar | |||
| EPPK1_chr8_143852324_143883467 | 143859717 | GGGCCAGG others(1595): Show |
G | conservative_inframe_deletion | MODERATE | HG02055.hp2 | a0011 | a0011c0044 | a0011c0044t0005 | a0011c0044t0005g0068 | 1 | 218 | 0.0046 | -1602 | c.119 others(11): Show |
p.Asp others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13611/16005 | 11935/15267 | 3979/5088 | chr8 | TogoVar | |||
| EPPK1_chr8_143852324_143883467 | 143860133 | TGGCCGGG others(1595): Show |
T | disruptive_inframe_deletion | MODERATE | HG00544.hp1 HG00733.hp2 HG02027.hp2 others(9): Show |
a0001a0002a0019others(2): Show | a0001c0001a0001c0010a0002c0002others(4): Show | a0001c0001t0015a0001c0010t0008a0001c0010t0015others(6): Show | a0001c0001t0015g0343 a0001c0010t0008g0122 a0001c0010t0015g0094 others(7): Show |
12 | 210 | 0.0571 | -1602 | c.115 others(11): Show |
p.Arg others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 13195/16005 | 11519/15267 | 3840/5088 | chr8 | TogoVar | |||
| EPPK1_chr8_143852324_143883467 | 143861916 | GCCTCAGG others(1595): Show |
G | conservative_inframe_deletion | MODERATE | NA18997.hp2 | a0152 | a0152c0071 | a0152c0071t0005 | a0152c0071t0005g0290 | 1 | 411 | 0.0024 | -1602 | c.973 others(10): Show |
p.Cys others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11412/16005 | 9736/15267 | 3246/5088 | chr8 | TogoVar | |||
| ZC3H13_chr13_45949465_46057746 | 46000016 | GCTTAAAA others(1594): Show |
G | intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 322 | 0.0031 | -1601 | c.944 others(17): Show |
ZC3H13 | ENSG00000123200.17 | transcript | ENST00000679008.1 | protein_coding | 8/18 | chr13 | TogoVar | |||||||
| D2HGDH_chr2_241729630_241773811 | 241765455 | CTTGGGGA others(1593): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01175.hp2 HG01346.hp1 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0008others(3): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0018others(7): Show | a0001c0001t0004g0008 a0001c0001t0004g0094 a0001c0001t0004g0108 others(32): Show |
37 | 332 | 0.1114 | -1600 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| D2HGDH_chr2_241729630_241773811 | 241765486 | TTAGGAAG others(1593): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0375 | 1 | 208 | 0.0048 | -1600 | c.130 others(18): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| OR11H4_chr14_20234286_20249349 | 20236412 | ATAGTATA others(1593): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 HG03130.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0033 | 2 | 438 | 0.0046 | -1600 | c.-29 others(11): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 2873 | chr14 | TogoVar | |||||||
| CLIC2_chrX_155271211_155339614 | 155326050 | ACTACACA others(1592): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 256 | 0.0039 | -1599 | c.57+ others(15): Show |
CLIC2 | ENSG00000155962.13 | transcript | ENST00000369449.7 | protein_coding | 1/5 | chrX | TogoVar | |||||||
| EPPK1_chr8_143852324_143883467 | 143858534 | CGGCCGGG others(1592): Show |
C | disruptive_inframe_deletion | MODERATE | HG00639.hp1 HG02145.hp2 NA18972.hp1 others(1): Show |
a0001a0022a0047 | a0001c0001a0022c0041a0047c0140 | a0001c0001t0001a0022c0041t0002a0022c0041t0007others(1): Show | a0001c0001t0001g0002 a0022c0041t0002g0076 a0022c0041t0007g0077 others(1): Show |
4 | 422 | 0.0095 | -1599 | c.131 others(11): Show |
p.His others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 14794/16005 | 13121/15267 | 4374/5088 | chr8 | TogoVar | |||
| PRRG3_chrX_151690458_151710924 | 151708427 | GGGGTCAC others(1592): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02630.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0016a0001c0001t0030a0001c0001t0033others(2): Show | a0001c0001t0016g0004 a0001c0001t0016g0028 a0001c0001t0016g0030 others(4): Show |
8 | 334 | 0.0240 | -1599 | c.*73 others(11): Show |
PRRG3 | ENSG00000130032.17 | transcript | ENST00000674457.1 | protein_coding | 2504 | chrX | TogoVar | |||||||
| DHRSX_chrX_2214506_2505976 | 2277035 | AGAGGGAG others(1591): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0028 | 1 | 48 | 0.0208 | -1598 | c.389 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
| DHRSX_chrX_2214506_2505976 | 2277749 | AGAGGGAG others(1591): Show |
A | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 44 | 0.0227 | -1598 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
| EIF4ENIF1_chr22_31434367_31494842 | 31464496 | GGTGAAAC others(1591): Show |
G | intron_variant | MODIFIER | HG03704.hp2 HG04199.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0318 a0001c0003t0001g0336 |
2 | 364 | 0.0055 | -1598 | c.298 others(16): Show |
EIF4ENIF1 | ENSG00000184708.18 | transcript | ENST00000330125.10 | protein_coding | 4/18 | chr22 | TogoVar | |||||||
| SPAG9_chr17_50957174_51125868 | 51123990 | AAGTGCTG others(1590): Show |
A | upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 290 | 0.0034 | -1597 | c.-49 others(11): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 3123 | chr17 | TogoVar | |||||||
| EPPK1_chr8_143852324_143883467 | 143863761 | GGGCGGCG others(1589): Show |
G | conservative_inframe_deletion | MODERATE | NA18995.hp1 NA19011.hp2 |
a0023a0151 | a0023c0036a0151c0107 | a0023c0036t0002a0151c0107t0002 | a0023c0036t0002g0285 a0151c0107t0002g0299 |
2 | 295 | 0.0068 | -1596 | c.789 others(9): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 9567/16005 | 7897/15267 | 2633/5088 | chr8 | TogoVar | |||
| NXN_chr17_794310_984776 | 940960 | AGTGAACA others(1589): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0007 | a0001c0001t0007g0023 a0001c0003t0007g0233 |
2 | 240 | 0.0083 | -1596 | c.360 others(19): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
| PCSK5_chr9_75885673_76367975 | 76305142 | CATTTTAG others(1589): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG02630.hp1 HG02647.hp1 others(3): Show |
a0014a0017a0040 | a0014c0029a0014c0032a0014c0087others(3): Show | a0014c0029t0009a0014c0032t0009a0014c0087t0040others(3): Show | a0014c0029t0009g0119 a0014c0032t0009g0132 a0014c0087t0040g0098 others(3): Show |
6 | 164 | 0.0366 | -1596 | c.360 others(19): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| TPO_chr2_1408463_1548673 | 1444300 | CGGGGCAG others(1588): Show |
C | intron_variant | MODIFIER | HG00597.hp2 | a0004 | a0004c0032 | a0004c0032t0008 | a0004c0032t0008g0107 | 1 | 128 | 0.0078 | -1595 | c.482 others(17): Show |
TPO | ENSG00000115705.22 | transcript | ENST00000329066.9 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| EPB41_chr1_28909569_29125041 | 29024355 | CGAGCGTG others(1587): Show |
C | intron_variant | MODIFIER | HG02055.hp2 HG02451.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0160 a0001c0001t0015g0175 |
2 | 310 | 0.0065 | -1594 | c.112 others(19): Show |
EPB41 | ENSG00000159023.23 | transcript | ENST00000343067.9 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| EYA4_chr6_133236357_133537128 | 133424630 | CCTGCCAA others(1587): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG02040.hp1 HG02602.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0013a0002c0002t0001others(5): Show | a0001c0001t0002g0097 a0001c0001t0013g0120 a0002c0002t0001g0030 others(13): Show |
16 | 262 | 0.0611 | -1594 | c.84- others(17): Show |
EYA4 | ENSG00000112319.21 | transcript | ENST00000355286.12 | protein_coding | 3/19 | chr6 | TogoVar | |||||||
| EPPK1_chr8_143852324_143883467 | 143862171 | TGGCGGCG others(1586): Show |
T | conservative_inframe_deletion | MODERATE | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 262 | 0.0038 | -1593 | c.949 others(10): Show |
p.Ala others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11157/16005 | 9490/15267 | 3164/5088 | chr8 | TogoVar | |||
| EPPK1_chr8_143852324_143883467 | 143862962 | CGGTAGGC others(1586): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00738.hp1 HG00741.hp1 others(27): Show |
a0001a0002a0003others(11): Show | a0001c0004a0002c0002a0002c0205others(17): Show | a0001c0004t0001a0002c0002t0001a0002c0205t0001others(21): Show | a0001c0004t0001g0022 a0002c0002t0001g0034 a0002c0205t0001g0063 others(23): Show |
30 | 417 | 0.0719 | -1593 | c.869 others(10): Show |
p.Gln others(15): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 10366/16005 | 8699/15267 | 2900/5088 | chr8 | TogoVar | |||
| KCNJ16_chr17_70070225_70140608 | 70106701 | CTTTCAGA others(1586): Show |
C | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 328 | 0.0030 | -1593 | c.-19 others(19): Show |
KCNJ16 | ENSG00000153822.15 | transcript | ENST00000392671.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |