regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ITIH2_chr10_7698316_7754520 | 7737710 | T | TTATATTC others(2): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18953.hp1 NA18989.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055a0001c0001t0001g0059a0001c0001t0001g0085others(3): Show | 6 | 380 | 0.0158 | 9 | c.195 others(26): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITIH2_chr10_7698316_7754520 | 7748521 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0014others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0049a0001c0001t0001g0051others(25): Show | 28 | 380 | 0.0737 | 9 | c.269 others(26): Show |
ITIH2 | ENSG00000151655.19 | transcript | ENST00000358415.9 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ITIH5_chr10_7554270_7671966 | 7567319 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00558.hp2 others(78): Show |
a0000a0001a0002others(18): Show | a0000c0013a0000c0041a0000c0066others(28): Show | a0000c0013t0004a0000c0013t0038a0000c0041t0013others(45): Show | a0000c0013t0004g0129a0000c0013t0038g0130a0000c0041t0013g0150others(78): Show | 81 | 342 | 0.2368 | 9 | c.215 others(26): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 12/13 | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7644512 | T | TATATATC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG03492.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0006a0001c0032a0002c0003others(5): Show | a0001c0006t0001a0001c0032t0001a0002c0003t0003others(5): Show | a0001c0006t0001g0057a0001c0006t0001g0089a0001c0032t0001g0277others(6): Show | 9 | 342 | 0.0263 | 9 | c.136 others(26): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7644577 | C | CATATATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(62): Show |
a0000a0001a0002others(8): Show | a0000c0026a0001c0001a0001c0023others(12): Show | a0000c0026t0007a0001c0001t0001a0001c0001t0010others(20): Show | a0000c0026t0007g0068a0001c0001t0001g0017a0001c0001t0001g0019others(61): Show | 65 | 342 | 0.1901 | 9 | c.136 others(26): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
ITIH5_chr10_7554270_7671966 | 7644619 | T | TATATCAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(62): Show |
a0000a0001a0002others(8): Show | a0000c0026a0001c0001a0001c0023others(12): Show | a0000c0026t0007a0001c0001t0001a0001c0001t0010others(20): Show | a0000c0026t0007g0068a0001c0001t0001g0017a0001c0001t0001g0019others(61): Show | 65 | 342 | 0.1901 | 9 | c.136 others(26): Show |
ITIH5 | ENSG00000123243.15 | transcript | ENST00000397146.7 | protein_coding | 2/13 | chr10 | TogoVar | ||||||
ITIH6_chrX_54743918_54803255 | 54797629 | A | AGAATCAT others(2): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0020 | a0001c0020t0001 | a0001c0020t0001g0201 | 1 | 296 | 0.0034 | 9 | c.102 others(24): Show |
ITIH6 | ENSG00000102313.9 | transcript | ENST00000218436.7 | protein_coding | 1/12 | chrX | TogoVar | ||||||
ITIH6_chrX_54743918_54803255 | 54801400 | C | CTGTGTGG others(2): Show |
upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 296 | 0.0034 | 9 | c.-31 others(20): Show |
ITIH6 | ENSG00000102313.9 | transcript | ENST00000218436.7 | protein_coding | 3146 | chrX | TogoVar | ||||||
ITK_chr5_157175840_157260185 | 157233964 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01496.hp1 HG02683.hp2 others(4): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0002a0006c0006t0001 | a0001c0001t0001g0084a0001c0001t0001g0173a0001c0001t0001g0243others(4): Show | 7 | 348 | 0.0201 | 9 | c.768 others(26): Show |
ITK | ENSG00000113263.14 | transcript | ENST00000422843.8 | protein_coding | 8/16 | chr5 | TogoVar | ||||||
ITM2B_chr13_48228206_48275357 | 48229672 | C | CTCTCTCT others(2): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01081.hp2 HG01256.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0018others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0057a0001c0001t0001g0066others(6): Show | 13 | 338 | 0.0385 | 9 | c.-36 others(20): Show |
ITM2B | ENSG00000136156.15 | transcript | ENST00000647800.2 | protein_coding | 3533 | chr13 | TogoVar | ||||||
ITM2B_chr13_48228206_48275357 | 48229672 | C | CTCTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | NA18612.hp1 NA18950.hp1 NA18964.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0057 | a0001c0002t0004g0006a0001c0002t0004g0015a0001c0002t0057g0006 | 7 | 338 | 0.0207 | 9 | c.-36 others(20): Show |
ITM2B | ENSG00000136156.15 | transcript | ENST00000647800.2 | protein_coding | 3533 | chr13 | TogoVar | ||||||
ITPA_chr20_3204498_3228860 | 3216157 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG02647.hp2 others(9): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0009t0001 | a0001c0003t0001g0010a0001c0003t0001g0049a0001c0003t0001g0052others(6): Show | 12 | 414 | 0.0290 | 9 | c.295 others(24): Show |
ITPA | ENSG00000125877.13 | transcript | ENST00000380113.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
ITPK1_chr14_92931914_93120925 | 93032350 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01981.hp2 HG02486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026a0001c0001t0051 | a0001c0001t0002g0031a0001c0001t0026g0157a0001c0001t0026g0173others(1): Show | 4 | 243 | 0.0165 | 9 | c.121 others(28): Show |
ITPK1 | ENSG00000100605.17 | transcript | ENST00000267615.11 | protein_coding | 3/10 | chr14 | TogoVar | ||||||
ITPKB_chr1_226626690_226744282 | 226733582 | A | ACACACAC others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG01517.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003 | a0002c0002t0002g0056a0002c0002t0002g0060a0002c0002t0003g0057others(4): Show | 7 | 350 | 0.0200 | 9 | c.193 others(28): Show |
ITPKB | ENSG00000143772.11 | transcript | ENST00000429204.6 | protein_coding | 2/7 | chr1 | TogoVar | ||||||
ITPKC_chr19_40712112_40745860 | 40719367 | G | GAATAATA others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02965.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0005 | a0001c0001t0001g0122a0001c0002t0001g0124a0001c0002t0005g0030others(2): Show | 6 | 388 | 0.0155 | 9 | c.115 others(28): Show |
ITPKC | ENSG00000086544.4 | transcript | ENST00000263370.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ITPR2_chr12_26330352_26838194 | 26666162 | A | ATAGATAG others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01074.hp2 others(10): Show |
a0001 | a0001c0007a0001c0013a0001c0019others(7): Show | a0001c0007t0005a0001c0013t0022a0001c0019t0005others(9): Show | a0001c0007t0005g0041a0001c0013t0022g0120a0001c0013t0022g0129others(10): Show | 13 | 142 | 0.0916 | 9 | c.141 others(26): Show |
ITPR2 | ENSG00000123104.12 | transcript | ENST00000381340.8 | protein_coding | 13/56 | chr12 | TogoVar | ||||||
ITPRID1_chr7_31509090_31661504 | 31618664 | G | GGTTTCTA others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01167.hp1 HG01169.hp1 others(13): Show |
a0003a0004a0005others(2): Show | a0003c0012a0004c0017a0005c0009others(5): Show | a0003c0012t0011a0004c0017t0011a0005c0009t0004others(7): Show | a0003c0012t0011g0294a0004c0017t0011g0305a0004c0017t0011g0306others(12): Show | 16 | 312 | 0.0513 | 9 | c.122 others(30): Show |
ITPRID1 | ENSG00000180347.15 | transcript | ENST00000615280.5 | protein_coding | 10/14 | chr7 | TogoVar | ||||||
ITSN2_chr2_24197864_24365536 | 24361740 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG02257.hp2 HG02559.hp1 others(10): Show |
a0002a0004 | a0002c0003a0004c0004 | a0002c0003t0001a0004c0004t0001 | a0002c0003t0001g0001a0002c0003t0001g0038a0002c0003t0001g0142others(9): Show | 13 | 224 | 0.0580 | 9 | c.-14 others(20): Show |
ITSN2 | ENSG00000198399.16 | transcript | ENST00000355123.9 | protein_coding | 1205 | chr2 | TogoVar | ||||||
IZUMO2_chr19_50147548_50168281 | 50163754 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01167.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008a0001c0002t0001g0132a0001c0002t0001g0134others(2): Show | 8 | 394 | 0.0203 | 9 | c.-56 others(18): Show |
IZUMO2 | ENSG00000161652.13 | transcript | ENST00000293405.8 | protein_coding | 474 | chr19 | TogoVar | ||||||
JADE1_chr4_128804700_128880224 | 128814617 | A | AGTGCAAT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01071.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0027a0001c0001t0001g0169a0001c0001t0001g0171others(2): Show | 6 | 278 | 0.0216 | 9 | c.-27 others(26): Show |
JADE1 | ENSG00000077684.16 | transcript | ENST00000226319.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
JADE2_chr5_134520670_134588227 | 134531883 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01261.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0022others(9): Show | a0001c0001t0002g0243a0001c0001t0005g0254a0001c0001t0005g0255others(13): Show | 16 | 388 | 0.0412 | 9 | c.1-3 others(22): Show |
JADE2 | ENSG00000043143.22 | transcript | ENST00000681547.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
JADE2_chr5_134520670_134588227 | 134587533 | A | AAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00642.hp2 others(15): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0014a0001c0001t0001g0138a0001c0001t0002g0005others(14): Show | 18 | 388 | 0.0464 | 9 | c.*82 others(20): Show |
JADE2 | ENSG00000043143.22 | transcript | ENST00000681547.2 | protein_coding | 4307 | chr5 | TogoVar | ||||||
JADE3_chrX_46907421_47066242 | 46923393 | C | CTCTCTTT others(2): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 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 | 46923393 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG04204.hp1 NA18952.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0126a0001c0001t0003g0252a0001c0001t0004g0176 | 3 | 258 | 0.0116 | 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 | 46991071 | T | TCCCCCCC others(2): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0053 | 1 | 258 | 0.0039 | 9 | c.126 others(26): Show |
JADE3 | ENSG00000102221.14 | transcript | ENST00000614628.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
JAG2_chr14_105135995_105173776 | 105151213 | C | CGCAGCCC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(192): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0009a0001c0010others(19): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(32): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0012others(150): Show | 195 | 364 | 0.5357 | 9 | c.126 others(24): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 9/25 | chr14 | TogoVar | ||||||
JAG2_chr14_105135995_105173776 | 105151222 | A | AGCAGCCC others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 NA18612.hp1 others(8): Show |
a0004a0006a0008 | a0004c0004a0006c0008a0008c0028 | a0004c0004t0001a0006c0008t0001a0008c0028t0001 | a0004c0004t0001g0004a0004c0004t0001g0166a0004c0004t0001g0167others(3): Show | 11 | 364 | 0.0302 | 9 | c.126 others(24): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 9/25 | chr14 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64928786 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(12): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0001 | a0001c0002t0001g0232a0001c0002t0002g0241a0001c0002t0002g0276others(12): Show | 15 | 326 | 0.0460 | 9 | c.-78 others(28): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 1/24 | chr1 | TogoVar | ||||||
JAK1_chr1_64828229_64971549 | 64970134 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01106.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0112a0001c0001t0001g0117a0001c0001t0001g0119others(21): Show | 24 | 326 | 0.0736 | 9 | c.-38 others(20): Show |
JAK1 | ENSG00000162434.14 | transcript | ENST00000342505.5 | protein_coding | 3586 | chr1 | TogoVar | ||||||
JAK2_chr9_4980272_5134948 | 5131435 | A | ATTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00438.hp2 HG01070.hp1 HG01109.hp2 others(22): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0010a0001c0002t0001a0001c0002t0008others(14): Show | a0001c0001t0010g0065a0001c0001t0010g0066a0001c0002t0001g0094others(22): Show | 25 | 364 | 0.0687 | 9 | c.*46 others(20): Show |
JAK2 | ENSG00000096968.14 | transcript | ENST00000381652.4 | protein_coding | 1488 | chr9 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6125846 | C | CACACACC others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00609.hp1 others(69): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(69): Show | 72 | 233 | 0.3090 | 9 | c.-14 others(30): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | ||||||
JAKMIP1_chr4_6021199_6205549 | 6169603 | T | TGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02647.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0031a0001c0002t0001g0009others(3): Show | 6 | 233 | 0.0258 | 9 | c.-14 others(30): Show |
JAKMIP1 | ENSG00000152969.21 | transcript | ENST00000409021.9 | protein_coding | 1/20 | chr4 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147637437 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00673.hp2 HG02083.hp1 others(17): Show |
a0001 | a0001c0002a0001c0003a0001c0017 | a0001c0002t0001a0001c0003t0012a0001c0003t0014others(9): Show | a0001c0002t0001g0084a0001c0003t0012g0033a0001c0003t0012g0056others(17): Show | 20 | 250 | 0.0800 | 9 | c.153 others(26): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 10/21 | chr5 | TogoVar | ||||||
JAKMIP2_chr5_147580438_147787728 | 147680192 | C | CTATGGAT others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02572.hp2 others(2): Show |
a0001 | a0001c0003a0001c0005a0001c0015 | a0001c0003t0001a0001c0003t0031a0001c0003t0073others(2): Show | a0001c0003t0001g0006a0001c0003t0031g0097a0001c0003t0073g0186others(2): Show | 5 | 250 | 0.0200 | 9 | c.-14 others(28): Show |
JAKMIP2 | ENSG00000176049.16 | transcript | ENST00000616793.5 | protein_coding | 1/21 | chr5 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132097968 | T | TTTCCCTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(61): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0013others(25): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(42): Show | a0001c0001t0002g0114a0001c0001t0002g0132a0001c0001t0004g0127others(61): Show | 64 | 158 | 0.4051 | 9 | c.-13 others(28): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 1/23 | chr10 | TogoVar | ||||||
JAM2_chr21_25634258_25722562 | 25660782 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 NA18945.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0001g0196a0001c0001t0001g0234a0001c0002t0001g0211others(9): Show | 12 | 328 | 0.0366 | 9 | c.67+ others(26): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
JAM2_chr21_25634258_25722562 | 25660783 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00558.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(3): Show | a0001c0001t0001g0112a0001c0001t0001g0113a0001c0001t0001g0114others(18): Show | 21 | 328 | 0.0640 | 9 | c.67+ others(26): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | chr21 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15415554 | G | GGGGGGCT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01255.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0015a0001c0001t0040others(2): Show | a0001c0001t0002g0025a0001c0001t0002g0040a0001c0001t0002g0093others(12): Show | 15 | 284 | 0.0528 | 9 | c.323 others(26): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 3/17 | chr6 | TogoVar | ||||||
JARID2_chr6_15241069_15527042 | 15486806 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01074.hp1 HG01168.hp1 others(32): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0010a0001c0002t0004others(11): Show | a0001c0001t0002g0025a0001c0001t0002g0095a0001c0001t0002g0098others(32): Show | 35 | 284 | 0.1232 | 9 | c.671 others(24): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15494413 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01255.hp2 HG01884.hp2 others(20): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0015a0001c0002t0005others(9): Show | a0001c0001t0002g0025a0001c0001t0002g0040a0001c0001t0015g0145others(20): Show | 23 | 284 | 0.0810 | 9 | c.907 others(26): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JAZF1_chr7_27825577_28185795 | 27845711 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01069.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0078a0001c0001t0001g0092a0001c0001t0001g0101others(25): Show | 28 | 206 | 0.1359 | 9 | c.386 others(26): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 27909002 | T | TCATTCAT others(2): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0101a0001c0001t0001g0163a0001c0001t0001g0164others(1): Show | 4 | 206 | 0.0194 | 9 | c.189 others(28): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28048972 | C | CCCTTCCC others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG00735.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0074a0001c0001t0001g0075a0001c0001t0001g0078others(32): Show | 35 | 206 | 0.1699 | 9 | c.116 others(28): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28092290 | C | CCAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03098.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0150a0001c0001t0001g0152a0001c0001t0001g0153others(2): Show | 5 | 206 | 0.0243 | 9 | c.115 others(28): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28110504 | A | AAAGGAAA others(2): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03225.hp1 HG03490.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0044others(1): Show | 4 | 206 | 0.0194 | 9 | c.115 others(28): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JCAD_chr10_30007803_30064586 | 30034222 | C | CAATAATA others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03239.hp1 HG03831.hp1 others(6): Show |
a0001a0003 | a0001c0005a0001c0019a0003c0051 | a0001c0005t0002a0001c0005t0035a0001c0005t0040others(5): Show | a0001c0005t0002g0129a0001c0005t0035g0081a0001c0005t0040g0341others(6): Show | 9 | 398 | 0.0226 | 9 | c.282 others(26): Show |
JCAD | ENSG00000165757.9 | transcript | ENST00000375377.2 | protein_coding | 2/3 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63234493 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00733.hp2 HG00735.hp1 others(6): Show |
a0003a0005a0011 | a0003c0003a0005c0005a0011c0014 | a0003c0003t0001a0005c0005t0001a0011c0014t0001 | a0003c0003t0001g0179a0003c0003t0001g0181a0003c0003t0001g0183others(6): Show | 9 | 310 | 0.0290 | 9 | c.448 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63238189 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(100): Show |
a0002a0006a0009others(5): Show | a0002c0002a0002c0021a0002c0024others(11): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(13): Show | a0002c0002t0001g0118a0002c0002t0001g0148a0002c0002t0001g0157others(100): Show | 103 | 310 | 0.3323 | 9 | c.448 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63245478 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00621.hp1 others(9): Show |
a0003a0004a0008 | a0003c0003a0004c0004a0008c0009 | a0003c0003t0001a0004c0004t0002a0008c0009t0001 | a0003c0003t0001g0165a0003c0003t0001g0167a0003c0003t0001g0171others(9): Show | 12 | 310 | 0.0387 | 9 | c.447 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 3/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63276884 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0031others(5): Show | a0001c0001t0001a0001c0008t0001a0001c0031t0001others(5): Show | a0001c0001t0001g0152a0001c0008t0001g0299a0001c0008t0001g0300others(24): Show | 27 | 310 | 0.0871 | 9 | c.334 others(28): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar |