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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAKMIP1_chr4_6021199_6205549 | 6080984 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03209.hp1 HG03486.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0166 a0001c0002t0001g0179 a0001c0003t0001g0152 |
3 | 233 | 0.0129 | 20 | c.110 others(37): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 6/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6098546 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG06807.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 a0001c0001t0001g0217 |
2 | 233 | 0.0086 | 20 | c.624 others(37): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 3/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6139770 | T | TATAAAAT others(13): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 233 | 0.0043 | 20 | c.-14 others(41): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6161293 | C | CCTGACCT others(13): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02257.hp1 HG02257.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0166 others(11): Show |
14 | 233 | 0.0601 | 20 | c.-14 others(41): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6183478 | C | CAATAAAT others(13): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(57): Show |
61 | 233 | 0.2618 | 20 | c.-14 others(41): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6191913 | T | TTTTATTT others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG01071.hp2 others(55): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 others(55): Show |
58 | 233 | 0.2489 | 20 | c.-14 others(39): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6191913 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 233 | 0.0043 | 20 | c.-14 others(39): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147598425 | C | CATCTATC others(13): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0223 | 1 | 250 | 0.0040 | 20 | c.*20 others(37): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 21/21 | chr5 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147637437 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00609.hp2 HG00621.hp2 others(6): Show |
a0001a0004 | a0001c0007a0001c0008a0001c0012others(1): Show | a0001c0007t0007a0001c0007t0086a0001c0008t0001others(5): Show | a0001c0007t0007g0171 a0001c0007t0086g0201 a0001c0008t0001g0146 others(6): Show |
9 | 250 | 0.0360 | 20 | c.153 others(37): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 10/21 | chr5 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147651165 | T | TTTATCAT others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00673.hp2 others(21): Show |
a0001 | a0001c0001a0001c0003a0001c0017 | a0001c0001t0013a0001c0001t0020a0001c0003t0012others(11): Show | a0001c0001t0013g0172 a0001c0001t0013g0176 a0001c0001t0013g0178 others(21): Show |
24 | 250 | 0.0960 | 20 | c.628 others(35): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 3/21 | chr5 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147702463 | A | AAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0011a0001c0002t0041 | a0001c0002t0011g0087 a0001c0002t0041g0039 |
2 | 250 | 0.0080 | 20 | c.-14 others(41): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132158076 | C | CCCCCGCC others(13): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0100 | 1 | 158 | 0.0063 | 20 | c.222 others(39): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132180530 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0006 | a0001c0006t0017 | a0001c0006t0017g0154 | 1 | 158 | 0.0063 | 20 | c.*11 others(41): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132187325 | G | GGCCCGGC others(13): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 a0001c0001t0003g0102 |
2 | 158 | 0.0127 | 20 | c.*60 others(31): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 2468 | chr10 | TogoVar | |||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03225.hp2 |
a0002 | a0002c0003 | a0002c0003t0007 | a0002c0003t0007g0138 a0002c0003t0007g0139 |
2 | 328 | 0.0061 | 20 | c.67+ others(37): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0226 | 1 | 328 | 0.0031 | 20 | c.67+ others(37): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(13): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0094 | 1 | 328 | 0.0031 | 20 | c.67+ others(37): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25688243 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01993.hp1 HG02074.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0016a0001c0002t0021others(1): Show | a0001c0002t0003g0149 a0001c0002t0003g0152 a0001c0002t0003g0158 others(8): Show |
11 | 328 | 0.0335 | 20 | c.134 others(37): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15486806 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0218 | 1 | 284 | 0.0035 | 20 | c.671 others(35): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 27849752 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01884.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013 | a0001c0001t0001g0078 a0001c0001t0003g0122 a0001c0001t0003g0129 others(3): Show |
6 | 206 | 0.0291 | 20 | c.386 others(37): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 27998025 | A | AGAAGGAA others(13): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 206 | 0.0049 | 20 | c.116 others(37): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 27998071 | A | AAGGCAGG others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG01070.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0099 a0001c0001t0001g0120 a0001c0001t0001g0128 others(5): Show |
8 | 206 | 0.0388 | 20 | c.116 others(37): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28120501 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02572.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0173 a0001c0001t0009g0027 |
2 | 206 | 0.0097 | 20 | c.115 others(39): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28174821 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0100 a0001c0001t0004g0142 |
2 | 206 | 0.0097 | 20 | c.115 others(37): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JCAD_chr10_30007803_30064586 | 30025535 | A | AAGGGGAG others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 NA19003.hp2 others(3): Show |
a0001a0010a0024 | a0001c0005a0001c0019a0010c0015others(1): Show | a0001c0005t0009a0001c0005t0069a0001c0019t0009others(2): Show | a0001c0005t0009g0040 a0001c0005t0069g0358 a0001c0019t0009g0232 others(3): Show |
6 | 398 | 0.0151 | 20 | c.404 others(37): Show |
JCAD | ENSG00000165757.9 | transcript | ENST00000375377.2 | protein_coding | 3/3 | chr10 | TogoVar | |||||||
JHY_chr11_122877759_122968862 | 122922809 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0007 | a0001c0007t0013 | a0001c0007t0013g0175 | 1 | 332 | 0.0030 | 20 | c.865 others(37): Show |
JHY | ENSG00000109944.11 | transcript | ENST00000227349.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JKAMP_chr14_59479517_59510410 | 59508399 | T | TACACACA others(13): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01257.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0116 others(9): Show |
13 | 358 | 0.0363 | 20 | c.*43 others(31): Show |
JKAMP | ENSG00000050130.18 | transcript | ENST00000616435.5 | protein_coding | 2990 | chr14 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63243103 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG03669.hp2 NA18966.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0232 a0002c0002t0001g0248 |
2 | 310 | 0.0065 | 20 | c.447 others(39): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63248529 | G | GATAGATA others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02074.hp1 NA18939.hp2 others(10): Show |
a0002a0003a0011others(1): Show | a0002c0002a0003c0003a0011c0014others(1): Show | a0002c0002t0001a0002c0002t0003a0003c0003t0001others(2): Show | a0002c0002t0001g0210 a0002c0002t0001g0212 a0002c0002t0001g0216 others(10): Show |
13 | 310 | 0.0419 | 20 | c.447 others(39): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63248529 | G | GATAGATA others(13): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02027.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0217 a0002c0002t0001g0273 |
2 | 310 | 0.0065 | 20 | c.447 others(39): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63292144 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG01256.hp1 others(13): Show |
a0002a0003a0008others(1): Show | a0002c0002a0002c0027a0003c0003others(2): Show | a0002c0002t0001a0002c0027t0001a0003c0003t0001others(2): Show | a0002c0002t0001g0162 a0002c0002t0001g0212 a0002c0002t0001g0230 others(13): Show |
16 | 310 | 0.0516 | 20 | c.334 others(39): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63305629 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02300.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0012 a0004c0004t0002g0014 |
2 | 310 | 0.0065 | 20 | c.334 others(39): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337624 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG02071.hp2 HG02165.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0167 a0003c0003t0001g0200 |
2 | 310 | 0.0065 | 20 | c.333 others(39): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337624 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG01517.hp1 NA18612.hp2 NA18959.hp2 others(6): Show |
a0002a0003a0011others(1): Show | a0002c0002a0003c0003a0011c0014others(1): Show | a0002c0002t0001a0003c0003t0001a0011c0014t0001others(1): Show | a0002c0002t0001g0163 a0002c0002t0001g0213 a0002c0002t0001g0222 others(6): Show |
9 | 310 | 0.0290 | 20 | c.333 others(39): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337624 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG01074.hp1 HG04115.hp2 |
a0004a0019 | a0004c0004a0019c0029 | a0004c0004t0002a0019c0029t0002 | a0004c0004t0002g0027 a0019c0029t0002g0026 |
2 | 310 | 0.0065 | 20 | c.333 others(39): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63387629 | A | ATTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03540.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0038 | a0001c0001t0001a0001c0038t0001 | a0001c0001t0001g0124 a0001c0001t0001g0126 a0001c0038t0001g0128 |
3 | 310 | 0.0097 | 20 | c.169 others(37): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63392867 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 310 | 0.0032 | 20 | c.169 others(39): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
JMJD4_chr1_227726191_227740302 | 227735789 | A | AGGGTCCT others(13): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0004 | 1 | 436 | 0.0023 | 20 | c.-53 others(29): Show |
JMJD4 | ENSG00000081692.13 | transcript | ENST00000620518.5 | protein_coding | 488 | chr1 | TogoVar | |||||||
JMJD8_chr16_676670_689334 | 683719 | C | CCGGACCA others(13): Show |
frameshift_variant | HIGH | NA18974.hp2 NA18979.hp2 |
a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0017 | 2 | 364 | 0.0055 | 20 | c.268 others(27): Show |
p.Ser others(4): Show |
JMJD8 | ENSG00000161999.13 | transcript | ENST00000609261.6 | protein_coding | 4/9 | 302/1934 | 287/795 | 96/264 | chr16 | TogoVar | |||
JOSD1_chr22_38680543_38705943 | 38680976 | C | CATATATA others(13): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0096 | 1 | 376 | 0.0027 | 20 | c.*69 others(31): Show |
JOSD1 | ENSG00000100221.11 | transcript | ENST00000683374.1 | protein_coding | 4566 | chr22 | TogoVar | |||||||
JOSD1_chr22_38680543_38705943 | 38689912 | C | CTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03453.hp2 NA18952.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0009 | a0001c0002t0002g0040 a0001c0002t0002g0042 a0001c0002t0002g0043 others(4): Show |
10 | 376 | 0.0266 | 20 | c.186 others(35): Show |
JOSD1 | ENSG00000100221.11 | transcript | ENST00000683374.1 | protein_coding | 2/4 | chr22 | TogoVar | |||||||
JOSD1_chr22_38680543_38705943 | 38704273 | G | GTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0027 | 1 | 376 | 0.0027 | 20 | c.-41 others(31): Show |
JOSD1 | ENSG00000100221.11 | transcript | ENST00000683374.1 | protein_coding | 3331 | chr22 | TogoVar | |||||||
JPH1_chr8_74229700_74326540 | 74296019 | G | GACACACA others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02896.hp2 HG03130.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0002g0181 a0001c0001t0003g0047 a0001c0001t0003g0170 others(2): Show |
5 | 330 | 0.0152 | 20 | c.113 others(41): Show |
JPH1 | ENSG00000104369.5 | transcript | ENST00000342232.5 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44126168 | G | GAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0004 | a0001c0004t0044 | a0001c0004t0044g0092 | 1 | 338 | 0.0030 | 20 | c.117 others(39): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44132399 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0002 | a0002c0010 | a0002c0010t0016 | a0002c0010t0016g0103 | 1 | 338 | 0.0030 | 20 | c.117 others(41): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87659374 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG04199.hp1 |
a0001 | a0001c0007a0001c0012 | a0001c0007t0018a0001c0012t0001 | a0001c0007t0018g0375 a0001c0012t0001g0356 |
2 | 380 | 0.0053 | 20 | c.116 others(41): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JPH3_chr16_87597508_87703156 | 87677185 | T | TATACACA others(13): Show |
intron_variant | MODIFIER | NA18978.hp1 NA18998.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0072 a0001c0004t0001g0276 |
2 | 380 | 0.0053 | 20 | c.116 others(39): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JRK_chr8_142652460_142674967 | 142657308 | T | TGGAGGCA others(13): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 NA19062.hp1 NA19079.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0046a0002c0002t0002a0002c0002t0024 | a0001c0001t0046g0138 a0002c0002t0002g0002 a0002c0002t0024g0077 |
3 | 466 | 0.0064 | 20 | c.*70 others(31): Show |
JRK | ENSG00000234616.9 | transcript | ENST00000612905.2 | protein_coding | 151 | chr8 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18280256 | T | TCGAGTCC others(13): Show |
3_prime_UTR_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0000 | 1 | 408 | 0.0025 | 20 | c.*18 others(29): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 1/1 | 184 | chr19 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18280256 | T | TCGAGTCC others(13): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(285): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0002g0000 a0001c0001t0003g0000 a0001c0001t0004g0000 others(29): Show |
288 | 408 | 0.7059 | 20 | c.*18 others(29): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 1/1 | 184 | chr19 | TogoVar |