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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITGB2_chr21_44880953_44925899 | 44885545 | TGCTGGAG others(14): Show |
G | downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 439 | 0.0023 | -21 | c.*80 others(30): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 408 | chr21 | TogoVar | |||||||
ITGB2_chr21_44880953_44925899 | 44896006 | TGCCTGCG others(14): Show |
T | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0224 | 1 | 442 | 0.0023 | -21 | c.994 others(36): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 8/15 | chr21 | TogoVar | |||||||
ITGB2_chr21_44880953_44925899 | 44896111 | CGCCTGTG others(14): Show |
C | intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0102 | 1 | 442 | 0.0023 | -21 | c.994 others(38): Show |
ITGB2 | ENSG00000160255.19 | transcript | ENST00000652462.1 | protein_coding | 8/15 | chr21 | TogoVar | |||||||
ITIH1_chr3_52772599_52797062 | 52781205 | TTTTTTCT others(14): Show |
T | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0002 | 1 | 396 | 0.0025 | -21 | c.688 others(36): Show |
ITIH1 | ENSG00000055957.11 | transcript | ENST00000273283.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITIH1_chr3_52772599_52797062 | 52781208 | TTTCTTCT others(14): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 285 | 0.0035 | -21 | c.688 others(36): Show |
ITIH1 | ENSG00000055957.11 | transcript | ENST00000273283.7 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ITIH2_chr10_7698316_7754520 | 7737825 | CTATATTA others(14): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0011 a0001c0001t0001g0284 a0001c0009t0001g0171 |
4 | 82 | 0.0488 | -21 | c.195 others(38): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7566823 | AGAGGAAG others(14): Show |
A | intron_variant | MODIFIER | NA18942.hp1 | a0004 | a0004c0007 | a0004c0007t0005 | a0004c0007t0005g0125 | 1 | 339 | 0.0029 | -21 | c.215 others(38): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7566826 | GGAAGAGG others(14): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG02257.hp1 HG02258.hp2 others(4): Show |
a0002a0003a0005others(1): Show | a0002c0004a0002c0021a0003c0002others(3): Show | a0002c0004t0003a0002c0004t0012a0002c0021t0001others(4): Show | a0002c0004t0003g0004 a0002c0004t0012g0231 a0002c0021t0001g0214 others(4): Show |
7 | 232 | 0.0302 | -21 | c.215 others(38): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7566832 | GGAAGAGG others(14): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG00741.hp2 HG01069.hp1 others(15): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0002c0004others(4): Show | a0001c0001t0001a0001c0001t0041a0002c0003t0001others(8): Show | a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0185 others(15): Show |
18 | 181 | 0.0994 | -21 | c.215 others(38): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITIH5_chr10_7554270_7671966 | 7566838 | GGAAGAGG others(14): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02109.hp2 |
a0004a0006 | a0004c0078a0006c0046 | a0004c0078t0006a0006c0046t0001 | a0004c0078t0006g0011 a0006c0046t0001g0123 |
2 | 247 | 0.0081 | -21 | c.215 others(38): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | |||||||
ITM2B_chr13_48228206_48275357 | 48229668 | CTCTCTTT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG01975.hp2 HG02630.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0016 | a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0016g0054 |
3 | 325 | 0.0092 | -21 | c.-36 others(32): Show |
ITM2B | ENSG00000136156.15 | transcript | ENST00000647800.2 | protein_coding | 3537 | chr13 | TogoVar | |||||||
ITPK1_chr14_92931914_93120925 | 93114995 | GCACCGGG others(14): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG01261.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0048others(1): Show | a0001c0001t0004g0183 a0001c0001t0008g0225 a0001c0001t0048g0184 others(1): Show |
4 | 242 | 0.0165 | -21 | c.95+ others(32): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 2/10 | chr14 | TogoVar | |||||||
ITPKC_chr19_40712112_40745860 | 40716922 | AGGCTCCG others(14): Show |
A | upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 386 | 0.0026 | -21 | c.-21 others(30): Show |
ITPKC | ENSG00000086544.4 | transcript | ENST00000263370.3 | protein_coding | 189 | chr19 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26567988 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG03516.hp2 NA18960.hp1 others(1): Show |
a0001a0002 | a0001c0012a0001c0042a0001c0045others(1): Show | a0001c0012t0005a0001c0042t0025a0001c0045t0001others(1): Show | a0001c0012t0005g0010 a0001c0042t0025g0001 a0001c0045t0001g0042 others(1): Show |
4 | 74 | 0.0541 | -21 | c.463 others(40): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 34/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26589812 | ATAAATAA others(14): Show |
A | intron_variant | MODIFIER | HG01168.hp1 HG02040.hp2 HG02132.hp2 others(1): Show |
a0001 | a0001c0004a0001c0008a0001c0040 | a0001c0004t0001a0001c0004t0011a0001c0008t0002others(1): Show | a0001c0004t0001g0004 a0001c0004t0011g0130 a0001c0008t0002g0039 others(1): Show |
4 | 116 | 0.0345 | -21 | c.438 others(40): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 32/56 | chr12 | TogoVar | |||||||
ITPR2_chr12_26330352_26838194 | 26827266 | ACGGAGAA others(14): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00639.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0010a0001c0002t0046a0001c0004t0010others(18): Show | a0001c0001t0010g0129 a0001c0002t0046g0125 a0001c0004t0010g0120 others(19): Show |
22 | 140 | 0.1571 | -21 | c.92+ others(36): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 1/56 | chr12 | TogoVar | |||||||
ITPRID1_chr7_31509090_31661504 | 31599638 | TTTCTTTC others(14): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01516.hp2 HG01517.hp2 others(4): Show |
a0001a0002a0008 | a0001c0003a0002c0004a0008c0013 | a0001c0003t0001a0002c0004t0001a0008c0013t0008 | a0001c0003t0001g0023 a0001c0003t0001g0024 a0001c0003t0001g0039 others(4): Show |
7 | 310 | 0.0226 | -21 | c.122 others(42): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | chr7 | TogoVar | |||||||
IWS1_chr2_127475812_127531489 | 127525088 | AGTAGGGG others(14): Show |
A | intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 321 | 0.0031 | -21 | c.34+ others(36): Show |
IWS1 | ENSG00000163166.15 | transcript | ENST00000295321.9 | protein_coding | 1/13 | chr2 | TogoVar | |||||||
IYD_chr6_150364012_150410969 | 150367969 | CTTTCTTT others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00741.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0011a0001c0001t0015others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0076 a0001c0001t0001g0216 others(11): Show |
16 | 412 | 0.0388 | -21 | c.-10 others(32): Show |
IYD | ENSG00000009765.15 | transcript | ENST00000344419.8 | protein_coding | 1042 | chr6 | TogoVar | |||||||
JAG1_chr20_10632684_10678999 | 10669547 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02970.hp2 HG03139.hp2 |
a0001a0003 | a0001c0006a0003c0026 | a0001c0006t0002a0003c0026t0006 | a0001c0006t0002g0218 a0001c0006t0002g0220 a0003c0026t0006g0219 |
3 | 38 | 0.0789 | -21 | c.387 others(38): Show |
JAG1 | ENSG00000101384.12 | transcript | ENST00000254958.10 | protein_coding | 2/25 | chr20 | TogoVar | |||||||
JAK1_chr1_64828229_64971549 | 64897525 | GGAGGGAG others(14): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG01884.hp1 HG02040.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0208 others(9): Show |
12 | 118 | 0.1017 | -21 | c.-77 others(40): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | |||||||
JAK2_chr9_4980272_5134948 | 5005083 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00558.hp2 others(76): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0002t0002a0001c0002t0005others(11): Show | a0001c0001t0003g0080 a0001c0002t0002g0002 a0001c0002t0002g0003 others(74): Show |
79 | 102 | 0.7745 | -21 | c.-25 others(40): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
JAK2_chr9_4980272_5134948 | 5094613 | AGCCATAT others(14): Show |
A | intron_variant | MODIFIER | HG03669.hp1 HG03688.hp1 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0034 | a0001c0002t0004g0012 a0001c0002t0034g0011 |
2 | 362 | 0.0055 | -21 | c.305 others(40): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 22/24 | chr9 | TogoVar | |||||||
JAK2_chr9_4980272_5134948 | 5103221 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | NA18951.hp1 NA18993.hp2 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0353 |
3 | 31 | 0.0968 | -21 | c.305 others(42): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 22/24 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
JAK3_chr19_17819782_17852982 | 17827717 | TAAAAAAA others(14): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(178): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0023 others(147): Show |
181 | 214 | 0.8458 | -21 | c.320 others(38): Show |
JAK3 | ENSG00000105639.21 | transcript | ENST00000458235.7 | protein_coding | 23/23 | chr19 | TogoVar | |||||||
JAKMIP1_chr4_6021199_6205549 | 6125778 | GCAGAAAC others(14): Show |
G | intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 232 | 0.0043 | -21 | c.-14 others(42): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | |||||||
JAKMIP2_chr5_147580438_147787728 | 147764990 | GGGAGAGA others(14): Show |
G | intron_variant | MODIFIER | HG01884.hp2 NA18522.hp1 |
a0001 | a0001c0002 | a0001c0002t0033a0001c0002t0050 | a0001c0002t0033g0088 a0001c0002t0050g0092 |
2 | 244 | 0.0082 | -21 | c.-14 others(42): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132061220 | CACACATA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01175.hp2 |
a0001a0004 | a0001c0013a0004c0009a0004c0011 | a0001c0013t0001a0004c0009t0002a0004c0011t0001 | a0001c0013t0001g0130 a0004c0009t0002g0146 a0004c0011t0001g0135 |
3 | 156 | 0.0192 | -21 | c.-49 others(32): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 4725 | chr10 | TogoVar | |||||||
JAML_chr11_118188725_118230011 | 118204090 | CTCCAGAT others(14): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 372 | 0.0027 | -21 | c.535 others(36): Show |
JAML | ENSG00000160593.20 | transcript | ENST00000356289.10 | protein_coding | 5/9 | chr11 | TogoVar | |||||||
JARID2_chr6_15241069_15527042 | 15323828 | GATGCAGT others(14): Show |
G | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 282 | 0.0035 | -21 | c.46- others(38): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 27979366 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0173 | 1 | 35 | 0.0286 | -21 | c.188 others(40): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
JAZF1_chr7_27825577_28185795 | 28062543 | TGTGCCCA others(14): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02027.hp2 HG02040.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0015 | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0031 others(20): Show |
23 | 204 | 0.1127 | -21 | c.116 others(40): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63263952 | ATACACAT others(14): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0113 | 1 | 301 | 0.0033 | -21 | c.447 others(36): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | |||||||
JMJD1C_chr10_63162225_63470977 | 63423300 | ATCCATTA others(14): Show |
A | intron_variant | MODIFIER | NA18967.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0260 | 1 | 308 | 0.0032 | -21 | c.168 others(40): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 1/25 | chr10 | TogoVar | |||||||
JMJD4_chr1_227726191_227740302 | 227736502 | GTTTTTTT others(14): Show |
G | upstream_gene_variant | MODIFIER | HG02129.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0004 | 1 | 28 | 0.0357 | -21 | c.-12 others(32): Show |
JMJD4 | ENSG00000081692.13 | transcript | ENST00000620518.5 | protein_coding | 1201 | chr1 | TogoVar | |||||||
JMJD6_chr17_76713451_76731606 | 76717607 | GGAGGCTG others(14): Show |
G | downstream_gene_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0124 | 1 | 438 | 0.0023 | -21 | c.*11 others(32): Show |
JMJD6 | ENSG00000070495.15 | transcript | ENST00000397625.9 | protein_coding | 843 | chr17 | TogoVar | |||||||
JMY_chr5_79231131_79332211 | 79270441 | AATATATA others(14): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG03139.hp2 |
a0005 | a0005c0007 | a0005c0007t0029a0005c0007t0030 | a0005c0007t0029g0185 a0005c0007t0030g0184 |
2 | 206 | 0.0097 | -21 | c.103 others(40): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
JMY_chr5_79231131_79332211 | 79270516 | TTAAAATA others(14): Show |
T | intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0279 | 1 | 323 | 0.0031 | -21 | c.103 others(40): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
JMY_chr5_79231131_79332211 | 79270566 | TTAAAATG others(14): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(125): Show |
a0001a0007a0009others(3): Show | a0001c0001a0001c0008a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0023others(12): Show | a0001c0001t0001g0003 a0001c0001t0001g0138 a0001c0001t0001g0206 others(124): Show |
128 | 337 | 0.3798 | -21 | c.103 others(40): Show |
JMY | ENSG00000152409.9 | transcript | ENST00000396137.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44134139 | AATAAATA others(14): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01099.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0007a0001c0001t0037a0001c0001t0048others(2): Show | a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0037g0278 others(8): Show |
11 | 305 | 0.0361 | -21 | c.117 others(42): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87597559 | CACCATCA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0205 | 1 | 378 | 0.0026 | -21 | c.-55 others(32): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 4948 | chr16 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87700663 | AGAGGGCG others(14): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG00733.hp1 others(66): Show |
a0001a0007a0010others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(21): Show | a0001c0001t0001g0004 a0001c0001t0001g0036 a0001c0001t0001g0114 others(66): Show |
69 | 378 | 0.1825 | -21 | c.*40 others(32): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2508 | chr16 | TogoVar | |||||||
JPH3_chr16_87597508_87703156 | 87700839 | CGGAGGGA others(14): Show |
C | downstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0303 | 1 | 351 | 0.0028 | -21 | c.*41 others(32): Show |
JPH3 | ENSG00000154118.13 | transcript | ENST00000284262.3 | protein_coding | 2684 | chr16 | TogoVar | |||||||
JSRP1_chr19_2247252_2261417 | 2248057 | TCCCCCAG others(14): Show |
T | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01346.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0001 a0002c0003t0001g0047 a0002c0004t0001g0004 others(1): Show |
10 | 434 | 0.0230 | -21 | c.*42 others(32): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 4194 | chr19 | TogoVar | |||||||
JSRP1_chr19_2247252_2261417 | 2248165 | TCCAGCCC others(14): Show |
T | downstream_gene_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | -21 | c.*41 others(32): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 4086 | chr19 | TogoVar | |||||||
JSRP1_chr19_2247252_2261417 | 2253751 | GGCGCGGT others(14): Show |
G | disruptive_inframe_deletion | MODERATE | HG02630.hp2 HG02818.hp1 HG03579.hp2 |
a0006 | a0006c0009 | a0006c0009t0001 | a0006c0009t0001g0030 a0006c0009t0001g0065 |
3 | 434 | 0.0069 | -21 | c.284 others(28): Show |
p.Arg others(12): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 5/7 | 369/1138 | 284/996 | 95/331 | chr19 | TogoVar | |||
KALRN_chr3_124028369_124731325 | 124227663 | GTTTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0014 | a0001c0014t0007 | a0001c0014t0007g0115 | 1 | 5 | 0.2000 | -21 | c.74- others(34): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124618086 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0063 | a0001c0063t0003 | a0001c0063t0003g0088 | 1 | 5 | 0.2000 | -21 | c.518 others(42): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124628149 | CTCCCTCC others(14): Show |
C | intron_variant | MODIFIER | NA18522.hp2 | a0003 | a0003c0053 | a0003c0053t0004 | a0003c0053t0004g0094 | 1 | 114 | 0.0088 | -21 | c.518 others(40): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 714063 | ACCTCCAT others(14): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(33): Show |
a0003a0006a0007others(3): Show | a0003c0003a0003c0015a0003c0051others(6): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0004others(12): Show | a0003c0003t0001g0038 a0003c0003t0001g0046 a0003c0003t0001g0049 others(33): Show |
36 | 252 | 0.1429 | -21 | c.269 others(38): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 3/11 | chr9 | TogoVar |