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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NCAPG2_chr7_158626169_158709804 | 158668243 | T | TCCTTACC others(1103): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 378 | 0.0027 | 1110 | c.147 others(1129): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
NFATC1_chr18_79390930_79534323 | 79494731 | G | GGGCACAC others(1103): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0008 | a0001c0008t0046 | a0001c0008t0046g0284 | 1 | 322 | 0.0031 | 1110 | c.278 others(1129): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(1103): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0087 | 1 | 376 | 0.0027 | 1110 | c.*15 others(1121): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370390 | G | GCTACCCC others(1103): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0023 | 1 | 376 | 0.0027 | 1110 | c.*15 others(1121): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 397 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(1103): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 308 | 0.0033 | 1110 | c.371 others(1127): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PPP2R2D_chr10_131896008_131964834 | 131958285 | C | CCTGTGGA others(1103): Show |
3_prime_UTR_variant | MODIFIER | HG03834.hp1 | a0002 | a0002c0002 | a0002c0002t0057 | a0002c0002t0057g0244 | 1 | 394 | 0.0025 | 1110 | c.*28 others(1121): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 9/9 | 2856 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
RAB40B_chr17_82649973_82703698 | 82671956 | G | GTAACTCT others(1103): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0112 | 1 | 338 | 0.0030 | 1110 | c.143 others(1127): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82671956 | G | GTAACTCT others(1103): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0003g0007 others(40): Show |
44 | 338 | 0.1302 | 1110 | c.143 others(1127): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82671956 | G | GTAACTCT others(1103): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0145 | 1 | 338 | 0.0030 | 1110 | c.143 others(1127): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82671976 | C | CACACCCT others(1103): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0307 | 1 | 338 | 0.0030 | 1110 | c.143 others(1127): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82671976 | C | CACACCCT others(1103): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(76): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 others(74): Show |
79 | 338 | 0.2337 | 1110 | c.143 others(1127): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82671976 | C | CACACCCT others(1103): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01358.hp1 HG01433.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0017 | a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 others(3): Show |
6 | 338 | 0.0178 | 1110 | c.143 others(1127): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RASA3_chr13_113972783_114137623 | 114099784 | C | CAGCCCCC others(1103): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 | 1 | 67 | 0.0149 | 1110 | c.56- others(1127): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79554427 | C | CACCTGGC others(1103): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0125 | 1 | 154 | 0.0065 | 1110 | c.-32 others(1131): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79554445 | T | TTCACTCA others(1103): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0109 | 1 | 154 | 0.0065 | 1110 | c.-32 others(1131): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RNF223_chr1_1065967_1079306 | 1078565 | A | AGGCTGAG others(1103): Show |
upstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0003 | 2 | 324 | 0.0062 | 1110 | c.-45 others(1121): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 4260 | chr1 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693732 | T | TCCACCAC others(1103): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0012 | a0012c0021 | a0012c0021t0001 | a0012c0021t0001g0025 | 1 | 60 | 0.0167 | 1110 | c.299 others(1127): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1103): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03017.hp2 HG03098.hp2 others(3): Show |
a0001a0011a0013 | a0001c0003a0001c0013a0001c0014others(3): Show | a0001c0003t0001a0001c0013t0005a0001c0014t0002others(3): Show | a0001c0003t0001g0032 a0001c0013t0005g0084 a0001c0014t0002g0049 others(3): Show |
6 | 154 | 0.0390 | 1110 | c.108 others(1127): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(1103): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 203 | 0.0049 | 1110 | c.167 others(1125): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1148485 | C | CCACCCCA others(1103): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02129.hp2 NA19080.hp1 |
a0001a0003 | a0001c0005a0001c0025a0003c0010 | a0001c0005t0001a0001c0025t0001a0003c0010t0001 | a0001c0005t0001g0024 a0001c0025t0001g0102 a0003c0010t0001g0053 |
3 | 203 | 0.0148 | 1110 | c.167 others(1125): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1148700 | T | TCCTCCTT others(1103): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0041 | 1 | 203 | 0.0049 | 1110 | c.167 others(1125): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 3/31 | chr19 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1098278 | C | CTAACCCT others(1103): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0044 | 1 | 118 | 0.0085 | 1110 | c.125 others(1127): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106854503 | T | TTTGTTTC others(1103): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0012 | a0012c0021 | a0012c0021t0011 | a0012c0021t0011g0076 | 1 | 130 | 0.0077 | 1110 | c.627 others(1129): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
TMPRSS9_chr19_2355265_2431261 | 2377485 | C | CTCTCTCT others(1103): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0007 | a0007c0025 | a0007c0025t0002 | a0007c0025t0002g0114 | 1 | 114 | 0.0088 | 1110 | c.-25 others(1129): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | chr19 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46292527 | T | TGTGCCCG others(1103): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 | 1 | 404 | 0.0025 | 1110 | c.339 others(1127): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292786 | A | AACTCTAG others(1103): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 404 | 0.0025 | 1110 | c.339 others(1127): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46292934 | G | GACTCTAG others(1103): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01358.hp2 HG02004.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0121 |
3 | 404 | 0.0074 | 1110 | c.339 others(1127): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294398 | A | ACAGCCAC others(1103): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0388 | 1 | 404 | 0.0025 | 1110 | c.340 others(1127): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294414 | A | AACTCTAG others(1103): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0318 | 1 | 404 | 0.0025 | 1110 | c.340 others(1127): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294622 | A | AGCCACGC others(1103): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 404 | 0.0025 | 1110 | c.340 others(1127): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(1103): Show |
intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 404 | 0.0025 | 1110 | c.340 others(1127): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ATXN1_chr6_16294112_16766460 | 16615248 | A | ATATGTCA others(1104): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0080 | 1 | 182 | 0.0055 | 1111 | c.-48 others(1132): Show |
ATXN1 | ENSG00000124788.19 | transcript | ENST00000436367.6 | protein_coding | 3/7 | chr6 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404006 | G | GGACGGGG others(1104): Show |
downstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0164 | 1 | 322 | 0.0031 | 1111 | c.*30 others(1122): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1438 | chr19 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 421529 | A | ACACACAT others(1104): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0228 | 1 | 432 | 0.0023 | 1111 | c.413 others(1128): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | chr12 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522728 | G | GCCCAGCC others(1104): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0004 | a0004c0010 | a0004c0010t0007 | a0004c0010t0007g0335 | 1 | 358 | 0.0028 | 1111 | c.236 others(1130): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1104): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0135 | a0135c0173 | a0135c0173t0001 | a0135c0173t0001g0206 | 1 | 252 | 0.0040 | 1111 | c.118 others(1130): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1104): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0004 | a0004c0018 | a0004c0018t0001 | a0004c0018t0001g0080 | 1 | 252 | 0.0040 | 1111 | c.118 others(1130): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
GPA33_chr1_167047836_167095377 | 167056594 | T | TGTATAGT others(1104): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212 | 1 | 370 | 0.0027 | 1111 | c.572 others(1126): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
GPA33_chr1_167047836_167095377 | 167056594 | T | TGTATAGT others(1104): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0168 | 1 | 370 | 0.0027 | 1111 | c.572 others(1126): Show |
GPA33 | ENSG00000143167.12 | transcript | ENST00000367868.4 | protein_coding | 4/6 | chr1 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294616 | C | CCATCCAT others(1104): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 388 | 0.0026 | 1111 | c.105 others(1128): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294620 | C | CCACCCAC others(1104): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03098.hp1 |
a0001a0008 | a0001c0001a0008c0013 | a0001c0001t0008a0008c0013t0019 | a0001c0001t0008g0175 a0008c0013t0019g0348 |
2 | 388 | 0.0052 | 1111 | c.105 others(1128): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294620 | C | CCATCCAC others(1104): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 388 | 0.0026 | 1111 | c.105 others(1128): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294624 | C | CCACCCAC others(1104): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 388 | 0.0026 | 1111 | c.105 others(1128): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8294624 | C | CCATCCAT others(1104): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0259 | 1 | 388 | 0.0026 | 1111 | c.105 others(1128): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1104): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 HG03654.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0023 | a0001c0001t0003g0009 a0001c0001t0023g0017 |
3 | 436 | 0.0069 | 1111 | c.*56 others(1122): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1104): Show |
downstream_gene_variant | MODIFIER | HG01358.hp1 HG02055.hp1 HG02896.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0002g0001 others(1): Show |
7 | 436 | 0.0161 | 1111 | c.*56 others(1122): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1104): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG06807.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0001 a0001c0002t0001g0095 a0001c0002t0003g0014 |
3 | 436 | 0.0069 | 1111 | c.*56 others(1122): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1104): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01070.hp1 others(4): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0002g0003 a0001c0001t0003g0001 a0001c0001t0014g0003 others(1): Show |
7 | 436 | 0.0161 | 1111 | c.*56 others(1122): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101311836 | C | CCCCTCAC others(1104): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0105 | 1 | 336 | 0.0030 | 1111 | c.269 others(1130): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 20/21 | chr15 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51982182 | A | AGGTGGGG others(1104): Show |
intron_variant | MODIFIER | NA19001.hp2 | a0004 | a0004c0008 | a0004c0008t0004 | a0004c0008t0004g0045 | 1 | 134 | 0.0075 | 1111 | c.575 others(1132): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar |