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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITSN2_chr2_24197864_24365536 | 24335062 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(184): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0005a0001c0018others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(22): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(183): Show |
187 | 224 | 0.8348 | -9 | c.-33 others(26): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 1/39 | chr2 | TogoVar | |||||||
ITSN2_chr2_24197864_24365536 | 24339305 | TACAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(96): Show |
a0001a0006a0010others(3): Show | a0001c0001a0001c0018a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(9): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 others(96): Show |
99 | 224 | 0.4420 | -9 | c.-33 others(28): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 1/39 | chr2 | TogoVar | |||||||
IVD_chr15_40400795_40426308 | 40422585 | CTTTTTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(144): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(50): Show |
147 | 378 | 0.3889 | -9 | c.*43 others(20): Show |
IVD | ENSG00000128928.10 | transcript | ENST00000487418.8 | protein_coding | 1278 | chr15 | TogoVar | |||||||
IYD_chr6_150364012_150410969 | 150367981 | CTTTCTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00639.hp1 others(68): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001 a0001c0001t0001g0125 a0001c0001t0001g0161 others(64): Show |
71 | 414 | 0.1715 | -9 | c.-10 others(20): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1030 | chr6 | TogoVar | |||||||
IZUMO3_chr9_24537952_24550897 | 24546435 | TCTTTCTT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG02080.hp2 NA18964.hp1 NA18969.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0069 a0002c0003t0001g0028 |
4 | 426 | 0.0094 | -9 | c.-79 others(18): Show |
IZUMO3 | ENSG00000205442.13 | transcript | ENST00000543880.7 | protein_coding | 539 | chr9 | TogoVar | |||||||
JADE3_chrX_46907421_47066242 | 46924615 | TTCCTTTA others(2): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 258 | 0.0039 | -9 | c.-12 others(28): Show |
JADE3 | ENSG00000102221.14 | transcript | ENST00000614628.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
JADE3_chrX_46907421_47066242 | 47015720 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 258 | 0.0039 | -9 | c.285 others(26): Show |
JADE3 | ENSG00000102221.14 | transcript | ENST00000614628.5 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
JADE3_chrX_46907421_47066242 | 47064622 | GAATGATG others(2): Show |
G | downstream_gene_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 258 | 0.0039 | -9 | c.*55 others(20): Show |
JADE3 | ENSG00000102221.14 | transcript | ENST00000614628.5 | protein_coding | 3381 | chrX | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105151222 | AGCAGCCC others(2): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02723.hp1 HG02818.hp2 others(6): Show |
a0001a0006a0017others(1): Show | a0001c0013a0006c0008a0017c0023others(1): Show | a0001c0013t0001a0006c0008t0004a0017c0023t0004others(1): Show | a0001c0013t0001g0258 a0006c0008t0004g0039 a0006c0008t0004g0247 others(5): Show |
9 | 364 | 0.0247 | -9 | c.126 others(24): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 9/25 | chr14 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64897525 | GGAGGGAG others(2): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG02257.hp2 HG02809.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0001a0001c0003t0001a0001c0005t0001 | a0001c0002t0001g0256 a0001c0002t0001g0258 a0001c0002t0001g0259 others(5): Show |
8 | 326 | 0.0245 | -9 | c.-77 others(28): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK2_chr9_4980272_5134948 | 5005083 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02074.hp1 HG02717.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0004a0001c0003t0011 | a0001c0003t0003g0321 a0001c0003t0003g0354 a0001c0003t0004g0058 others(3): Show |
6 | 364 | 0.0165 | -9 | c.-25 others(28): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
JAK2_chr9_4980272_5134948 | 5113424 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(94): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0010a0001c0002t0001a0001c0002t0008others(17): Show | a0001c0001t0010g0065 a0001c0001t0010g0067 a0001c0002t0001g0002 others(92): Show |
97 | 364 | 0.2665 | -9 | c.306 others(28): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147604800 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(105): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(40): Show | a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(105): Show |
108 | 250 | 0.4320 | -9 | c.241 others(28): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 20/21 | chr5 | TogoVar | |||||||
JAM3_chr11_134064072_134157001 | 134111133 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG03492.hp1 HG03669.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0026a0001c0001t0044 | a0001c0001t0001g0149 a0001c0001t0001g0285 a0001c0001t0001g0311 others(6): Show |
9 | 390 | 0.0231 | -9 | c.77- others(26): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15248896 | GGAGGAGG others(2): Show |
G | intron_variant | MODIFIER | NA18947.hp1 NA19068.hp1 NA19068.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0002 | a0001c0001t0001g0173 a0001c0002t0001g0172 a0001c0004t0002g0171 |
3 | 284 | 0.0106 | -9 | c.45+ others(24): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15261311 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00735.hp1 others(50): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(16): Show | a0001c0001t0001g0051 a0001c0001t0001g0081 a0001c0001t0001g0084 others(50): Show |
53 | 284 | 0.1866 | -9 | c.45+ others(26): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15344104 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG02055.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0113 a0001c0001t0002g0040 a0001c0001t0002g0118 others(10): Show |
13 | 284 | 0.0458 | -9 | c.46- others(26): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15432449 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG01928.hp2 HG02451.hp1 HG02486.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0002t0012others(1): Show | a0001c0001t0002g0057 a0001c0001t0002g0225 a0001c0002t0001g0009 others(2): Show |
5 | 284 | 0.0176 | -9 | c.324 others(28): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 27838644 | GTGAATAA others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG00642.hp2 others(83): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0081 others(83): Show |
86 | 206 | 0.4175 | -9 | c.555 others(26): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 4/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28000614 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01070.hp2 HG01081.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0120 a0001c0001t0001g0148 a0001c0001t0001g0155 others(6): Show |
9 | 206 | 0.0437 | -9 | c.116 others(26): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JHY_chr11_122877759_122968862 | 122948442 | TTAATAAT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(124): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0192 a0001c0001t0001g0242 a0001c0001t0002g0031 others(124): Show |
127 | 332 | 0.3825 | -9 | c.192 others(28): Show |
JHY | ENSG00000109944.11 | transcript | ENST00000227349.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63278345 | GAATAATA others(2): Show |
G | intron_variant | MODIFIER | HG01123.hp2 HG02818.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0151 a0001c0001t0001g0152 |
3 | 310 | 0.0097 | -9 | c.334 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63288889 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01081.hp1 others(21): Show |
a0002a0004a0010others(3): Show | a0002c0002a0004c0004a0004c0022others(4): Show | a0002c0002t0001a0004c0004t0002a0004c0022t0002others(4): Show | a0002c0002t0001g0238 a0004c0004t0002g0006 a0004c0004t0002g0008 others(21): Show |
24 | 310 | 0.0774 | -9 | c.334 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63288920 | AATAATAA others(2): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02809.hp1 HG02895.hp2 others(2): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0004a0005c0005t0001 | a0001c0001t0001g0136 a0001c0001t0001g0144 a0001c0001t0001g0152 others(2): Show |
5 | 310 | 0.0161 | -9 | c.334 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63337604 | AAAAGAAA others(2): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01175.hp2 HG02523.hp1 others(6): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0007others(1): Show | a0002c0002t0001a0003c0003t0001a0007c0007t0001others(1): Show | a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0261 others(6): Show |
9 | 310 | 0.0290 | -9 | c.333 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63361719 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(100): Show |
a0002a0007a0009others(5): Show | a0002c0002a0002c0021a0002c0024others(10): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(12): Show | a0002c0002t0001g0118 a0002c0002t0001g0148 a0002c0002t0001g0157 others(100): Show |
103 | 310 | 0.3323 | -9 | c.333 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63391508 | TCAACAAC others(2): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01361.hp1 HG02622.hp1 others(6): Show |
a0001a0004a0010others(1): Show | a0001c0008a0004c0004a0010c0013others(1): Show | a0001c0008t0001a0004c0004t0002a0010c0013t0002others(1): Show | a0001c0008t0001g0299 a0001c0008t0001g0300 a0001c0008t0001g0301 others(6): Show |
9 | 310 | 0.0290 | -9 | c.169 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63419045 | CCAACCTG others(2): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0001a0001c0038 | a0001c0001t0001a0001c0038t0001 | a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 others(2): Show |
5 | 310 | 0.0161 | -9 | c.169 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
JMJD4_chr1_227726191_227740302 | 227728431 | TGCCTGCC others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0004 | a0001c0004t0001g0060 a0001c0004t0004g0016 a0001c0004t0004g0064 |
6 | 436 | 0.0138 | -9 | c.*39 others(20): Show |
JMJD4 | ENSG00000081692.13 | transcript | ENST00000620518.5 | protein_coding | 2759 | chr1 | TogoVar | |||||||
JMJD4_chr1_227726191_227740302 | 227736502 | GTTTTTTT others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01169.hp1 HG02109.hp1 HG02280.hp2 others(7): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0001 a0001c0004t0004g0016 a0001c0004t0004g0064 |
10 | 436 | 0.0229 | -9 | c.-12 others(20): Show |
JMJD4 | ENSG00000081692.13 | transcript | ENST00000620518.5 | protein_coding | 1201 | chr1 | TogoVar | |||||||
JPH1_chr8_74229700_74326540 | 74294387 | AGACAAAG others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00621.hp2 others(80): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0004a0001c0016others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 others(72): Show |
83 | 330 | 0.2515 | -9 | c.113 others(30): Show |
JPH1 | ENSG00000104369.5 | transcript | ENST00000342232.5 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134075 | ATATATTT others(2): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG02040.hp1 NA20805.hp2 |
a0001a0002 | a0001c0006a0002c0002 | a0001c0006t0021a0002c0002t0004a0002c0002t0006 | a0001c0006t0021g0256 a0002c0002t0004g0234 a0002c0002t0006g0153 |
3 | 338 | 0.0089 | -9 | c.117 others(30): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134309 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG03540.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0077others(1): Show | a0001c0001t0001g0259 a0001c0001t0002g0044 a0001c0001t0077g0184 others(1): Show |
4 | 338 | 0.0118 | -9 | c.117 others(30): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134320 | TATATAAT others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01346.hp1 NA18964.hp1 |
a0001a0002 | a0001c0006a0001c0012a0002c0005 | a0001c0006t0032a0001c0012t0032a0002c0005t0010 | a0001c0006t0032g0306 a0001c0012t0032g0293 a0002c0005t0010g0021 |
3 | 338 | 0.0089 | -9 | c.117 others(30): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134338 | TAAATATT others(2): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG02723.hp1 HG03540.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0021 | a0001c0001t0001a0001c0001t0002a0001c0001t0077others(2): Show | a0001c0001t0001g0259 a0001c0001t0002g0044 a0001c0001t0077g0184 others(2): Show |
5 | 338 | 0.0148 | -9 | c.117 others(30): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134474 | ATATATTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(61): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0002 a0001c0001t0001g0241 a0001c0001t0001g0249 others(59): Show |
64 | 338 | 0.1894 | -9 | c.117 others(30): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44134487 | ATATATTT others(2): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG01099.hp1 HG01192.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0063a0001c0003t0040a0001c0006t0011others(6): Show | a0001c0001t0063g0116 a0001c0003t0040g0004 a0001c0006t0011g0161 others(9): Show |
12 | 338 | 0.0355 | -9 | c.117 others(30): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH2_chr20_44101590_44192188 | 44149962 | GGAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(189): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(85): Show | a0001c0001t0001g0002 a0001c0001t0001g0236 a0001c0001t0001g0241 others(187): Show |
192 | 338 | 0.5681 | -9 | c.116 others(28): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87604287 | CCTGCTGC others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01361.hp2 NA19007.hp2 |
a0001 | a0001c0004a0001c0005a0001c0009 | a0001c0004t0004a0001c0005t0007a0001c0009t0001 | a0001c0004t0004g0367 a0001c0005t0007g0368 a0001c0009t0001g0369 |
3 | 380 | 0.0079 | -9 | c.382 others(24): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JPT1_chr17_75130248_75159512 | 75137435 | TAGCCTCA others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01257.hp2 HG01516.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0111 a0002c0002t0001g0112 |
5 | 388 | 0.0129 | -9 | c.317 others(26): Show |
JPT1 | ENSG00000189159.16 | transcript | ENST00000409753.8 | protein_coding | 4/4 | chr17 | TogoVar | |||||||
JPT1_chr17_75130248_75159512 | 75142616 | AGGAGGGG others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(222): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(134): Show |
225 | 388 | 0.5799 | -9 | c.316 others(26): Show |
JPT1 | ENSG00000189159.16 | transcript | ENST00000409753.8 | protein_coding | 4/4 | chr17 | TogoVar | |||||||
JPT2_chr16_1673279_1707086 | 1697039 | GCGGGAAT others(2): Show |
G | intron_variant | MODIFIER | NA18945.hp1 NA18952.hp1 NA18956.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0012 a0001c0001t0001g0139 a0001c0001t0001g0140 others(1): Show |
8 | 386 | 0.0207 | -9 | c.337 others(24): Show |
JPT2 | ENSG00000206053.13 | transcript | ENST00000248098.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18280864 | CGCGCCCC others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG01358.hp2 HG02145.hp2 HG02155.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006a0002c0002t0009 | a0002c0002t0001g0000 a0002c0002t0006g0000 a0002c0002t0009g0000 |
4 | 408 | 0.0098 | -9 | c.612 others(16): Show |
p.Gly others(13): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 1/1 | 758/1929 | 612/1044 | 204/347 | chr19 | TogoVar | |||
JUP_chr17_41749609_41791711 | 41791117 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG01261.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0303 a0001c0001t0001g0338 a0001c0004t0001g0001 others(6): Show |
10 | 410 | 0.0244 | -9 | c.-45 others(20): Show |
JUP | ENSG00000173801.17 | transcript | ENST00000393931.8 | protein_coding | 4407 | chr17 | TogoVar | |||||||
KALRN_chr3_124028369_124731325 | 124069311 | TAGGAGGA others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG01071.hp2 HG01074.hp2 others(14): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0003a0001c0002t0024a0001c0003t0001others(13): Show | a0001c0001t0003g0029 a0001c0002t0024g0006 a0001c0003t0001g0045 others(14): Show |
17 | 116 | 0.1466 | -9 | c.73+ others(26): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124471256 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01258.hp1 HG02055.hp2 others(12): Show |
a0001a0007 | a0001c0003a0001c0005a0001c0010others(11): Show | a0001c0003t0001a0001c0005t0001a0001c0010t0002others(11): Show | a0001c0003t0001g0041 a0001c0005t0001g0023 a0001c0005t0001g0035 others(12): Show |
15 | 116 | 0.1293 | -9 | c.403 others(28): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 25/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124649965 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG02109.hp1 NA18906.hp2 |
a0001 | a0001c0038a0001c0070 | a0001c0038t0001a0001c0070t0022 | a0001c0038t0001g0091 a0001c0070t0022g0102 |
2 | 116 | 0.0172 | -9 | c.566 others(26): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 37/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124686798 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01071.hp2 HG02129.hp1 others(13): Show |
a0001a0002a0006others(1): Show | a0001c0005a0001c0016a0001c0021others(10): Show | a0001c0005t0001a0001c0016t0011a0001c0016t0025others(11): Show | a0001c0005t0001g0023 a0001c0005t0001g0034 a0001c0005t0001g0035 others(13): Show |
16 | 116 | 0.1379 | -9 | c.737 others(28): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 51/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 528469 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp1 others(80): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0060a0002c0002others(27): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0055 others(80): Show |
83 | 254 | 0.3268 | -9 | c.-84 others(28): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 635694 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01175.hp2 HG03239.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0003a0002c0002t0002a0002c0002t0003others(1): Show | a0001c0001t0003g0118 a0001c0001t0003g0198 a0002c0002t0002g0146 others(5): Show |
8 | 254 | 0.0315 | -9 | c.-83 others(28): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |