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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
JAKMIP3_chr10_132060946_132189858 | 132167836 | GCCCTCGC | G | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp1 HG02647.hp1 |
a0001 | a0001c0001a0001c0042 | a0001c0001t0008a0001c0042t0023 | a0001c0001t0008g0100a0001c0001t0008g0142a0001c0042t0023g0126 | 3 | 158 | 0.0190 | -7 | c.*23 others(21): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 22/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
JAM2_chr21_25634258_25722562 | 25655233 | GTGTTTAT | G | intron_variant | MODIFIER | HG02258.hp1 HG02451.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001a0001c0001t0006g0098a0001c0001t0006g0099others(6): Show | 11 | 328 | 0.0335 | -7 | c.67+ others(24): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
JAM2_chr21_25634258_25722562 | 25669373 | AAAAAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00609.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0244a0001c0001t0001g0268a0001c0001t0001g0296others(72): Show | 75 | 328 | 0.2287 | -7 | c.68- others(24): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
JAM2_chr21_25634258_25722562 | 25699722 | CAAAAAAA | C | intron_variant | MODIFIER | HG01255.hp2 HG02258.hp1 HG02486.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0006a0001c0001t0027a0002c0003t0007others(2): Show | a0001c0001t0006g0088a0001c0001t0006g0099a0001c0001t0006g0104others(9): Show | 12 | 328 | 0.0366 | -7 | c.597 others(22): Show |
JAM2 | ENSG00000154721.15 | transcript | ENST00000480456.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15332930 | CTTTTCTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00609.hp1 others(47): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(20): Show | a0001c0001t0001g0146a0001c0001t0001g0276a0001c0001t0001g0277others(47): Show | 50 | 284 | 0.1761 | -7 | c.46- others(24): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JARID2_chr6_15241069_15527042 | 15468491 | AGGGTGAG | A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp1 others(100): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(27): Show | a0001c0001t0001g0020a0001c0001t0001g0084a0001c0001t0001g0109others(100): Show | 103 | 284 | 0.3627 | -7 | c.494 others(20): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
JAZF1_chr7_27825577_28185795 | 27830433 | TAAGCAAA | T | downstream_gene_variant | MODIFIER | HG02129.hp2 HG02165.hp1 NA18957.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0080a0001c0001t0001g0090a0001c0001t0001g0183others(3): Show | 6 | 206 | 0.0291 | -7 | c.*23 others(18): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 143 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 27898311 | GTTTTTTT | G | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01169.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(1): Show | a0001c0001t0001g0078a0001c0001t0001g0092a0001c0001t0001g0102others(11): Show | 14 | 206 | 0.0680 | -7 | c.189 others(24): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
JAZF1_chr7_27825577_28185795 | 28120501 | CTTTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG02622.hp1 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0105a0001c0001t0001g0106a0001c0001t0001g0107others(4): Show | 7 | 206 | 0.0340 | -7 | c.115 others(26): Show |
JAZF1 | ENSG00000153814.13 | transcript | ENST00000283928.10 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
JCAD_chr10_30007803_30064586 | 30050314 | CAAAAAAA | C | intron_variant | MODIFIER | HG00741.hp2 HG02055.hp1 HG02109.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0002a0001c0005t0007a0001c0008t0010others(2): Show | a0001c0001t0002g0295a0001c0005t0007g0017a0001c0005t0007g0237others(6): Show | 10 | 398 | 0.0251 | -7 | c.-59 others(24): Show |
JCAD | ENSG00000165757.9 | transcript | ENST00000375377.2 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
JCHAIN_chr4_70650541_70671508 | 70652803 | GAAAAAAA | G | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02004.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(23): Show | 33 | 366 | 0.0902 | -7 | c.*35 others(18): Show |
JCHAIN | ENSG00000132465.12 | transcript | ENST00000254801.9 | protein_coding | 2737 | chr4 | TogoVar | ||||||
JKAMP_chr14_59479517_59510410 | 59496960 | CTTCCGAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0011 | a0001c0001t0001g0031a0001c0001t0001g0049a0001c0001t0001g0051others(22): Show | 30 | 358 | 0.0838 | -7 | c.458 others(24): Show |
JKAMP | ENSG00000050130.18 | transcript | ENST00000616435.5 | protein_coding | 4/6 | chr14 | TogoVar | ||||||
JKAMP_chr14_59479517_59510410 | 59499015 | CTTTTTTT | C | intron_variant | MODIFIER | HG01074.hp2 HG01175.hp2 HG01243.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0002g0063a0001c0001t0002g0066a0001c0001t0002g0073others(14): Show | 34 | 358 | 0.0950 | -7 | c.640 others(22): Show |
JKAMP | ENSG00000050130.18 | transcript | ENST00000616435.5 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
JMJD1C_chr10_63162225_63470977 | 63167523 | ATATACTT | A | 3_prime_UTR_variant | MODIFIER | HG00544.hp1 HG02071.hp1 NA19000.hp1 others(1): Show |
a0002a0024 | a0002c0002a0024c0015 | a0002c0002t0003a0002c0002t0005a0024c0015t0003 | a0002c0002t0003g0229a0002c0002t0003g0267a0002c0002t0005g0002others(1): Show | 4 | 310 | 0.0129 | -7 | c.*51 others(16): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 26/26 | 515 | chr10 | TogoVar | |||||
JMJD1C_chr10_63162225_63470977 | 63191983 | CAAAAAAA | C | intron_variant | MODIFIER | HG01261.hp1 HG02074.hp2 HG03669.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0039a0001c0001t0001g0041others(9): Show | 12 | 310 | 0.0387 | -7 | c.607 others(24): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 16/25 | chr10 | TogoVar | ||||||
JMJD1C_chr10_63162225_63470977 | 63304076 | ACTTTGCC | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(99): Show |
a0002a0006a0009others(5): Show | a0002c0002a0002c0021a0002c0024others(11): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(13): Show | a0002c0002t0001g0118a0002c0002t0001g0148a0002c0002t0001g0157others(99): Show | 102 | 310 | 0.3290 | -7 | c.334 others(26): Show |
JMJD1C | ENSG00000171988.20 | transcript | ENST00000399262.7 | protein_coding | 2/25 | chr10 | TogoVar | ||||||
JMJD4_chr1_227726191_227740302 | 227736502 | GTTTTTTT | G | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01255.hp1 HG01975.hp1 others(22): Show |
a0001a0009 | a0001c0001a0001c0004a0009c0017 | a0001c0001t0001a0001c0004t0001a0009c0017t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0004t0001g0033others(1): Show | 25 | 436 | 0.0573 | -7 | c.-12 others(18): Show |
JMJD4 | ENSG00000081692.13 | transcript | ENST00000620518.5 | protein_coding | 1201 | chr1 | TogoVar | ||||||
JOSD1_chr22_38680543_38705943 | 38681026 | TATATATA | T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02622.hp2 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0023 | a0002c0003t0002g0030a0002c0003t0002g0175a0002c0003t0002g0176others(4): Show | 8 | 376 | 0.0213 | -7 | c.*68 others(18): Show |
JOSD1 | ENSG00000100221.11 | transcript | ENST00000683374.1 | protein_coding | 4516 | chr22 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44134365 | TATTATAA | T | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01255.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0077others(7): Show | a0001c0001t0001g0255a0001c0001t0001g0259a0001c0001t0002g0044others(8): Show | 11 | 338 | 0.0325 | -7 | c.117 others(28): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPH2_chr20_44101590_44192188 | 44134487 | ATATATTT | A | intron_variant | MODIFIER | HG00280.hp1 HG01891.hp1 HG02155.hp2 others(3): Show |
a0001a0003a0004 | a0001c0007a0003c0008a0004c0013 | a0001c0007t0024a0001c0007t0028a0003c0008t0023others(1): Show | a0001c0007t0024g0087a0001c0007t0028g0238a0001c0007t0028g0285others(3): Show | 6 | 338 | 0.0178 | -7 | c.117 others(28): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
JPT1_chr17_75130248_75159512 | 75137685 | CTTTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0053a0001c0001t0001g0197 | 7 | 388 | 0.0180 | -7 | c.317 others(24): Show |
JPT1 | ENSG00000189159.16 | transcript | ENST00000409753.8 | protein_coding | 4/4 | chr17 | TogoVar | ||||||
JUP_chr17_41749609_41791711 | 41791463 | CTGTTTTT | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(59): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0025a0001c0004t0001others(10): Show | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0199others(56): Show | 62 | 410 | 0.1512 | -7 | c.-48 others(18): Show |
JUP | ENSG00000173801.17 | transcript | ENST00000393931.8 | protein_coding | 4753 | chr17 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124112003 | ATTAAGGC | A | intron_variant | MODIFIER | HG00642.hp2 HG01071.hp2 HG01496.hp2 others(6): Show |
a0001a0002 | a0001c0012a0001c0015a0001c0042others(6): Show | a0001c0012t0004a0001c0015t0001a0001c0042t0003others(6): Show | a0001c0012t0004g0107a0001c0015t0001g0097a0001c0042t0003g0108others(6): Show | 9 | 116 | 0.0776 | -7 | c.73+ others(24): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 1/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124355709 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00642.hp1 others(43): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0003a0001c0002t0017a0001c0003t0001others(38): Show | a0001c0001t0003g0112a0001c0002t0017g0053a0001c0003t0001g0041others(43): Show | 46 | 116 | 0.3966 | -7 | c.177 others(26): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 10/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124618086 | CTTTTTTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG02896.hp1 others(15): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0003a0001c0002t0017a0001c0005t0001others(12): Show | a0001c0001t0003g0029a0001c0002t0017g0053a0001c0005t0001g0023others(15): Show | 18 | 116 | 0.1552 | -7 | c.518 others(28): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 34/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124662193 | CTTTTTTT | C | intron_variant | MODIFIER | HG01168.hp2 HG01175.hp1 HG01515.hp1 others(7): Show |
a0001a0004 | a0001c0002a0001c0004a0001c0008others(5): Show | a0001c0002t0002a0001c0002t0024a0001c0004t0030others(6): Show | a0001c0002t0002g0011a0001c0002t0024g0006a0001c0004t0030g0052others(7): Show | 10 | 116 | 0.0862 | -7 | c.634 others(24): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 45/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KALRN_chr3_124028369_124731325 | 124686798 | ATTTTTTT | A | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01123.hp2 others(9): Show |
a0001a0007 | a0001c0019a0001c0020a0001c0026others(8): Show | a0001c0019t0001a0001c0020t0008a0001c0026t0006others(8): Show | a0001c0019t0001g0079a0001c0020t0008g0083a0001c0020t0008g0084others(9): Show | 12 | 116 | 0.1035 | -7 | c.737 others(26): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 51/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
KANK1_chr9_499695_751103 | 508121 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG01361.hp2 HG01884.hp1 others(5): Show |
a0001a0007a0008others(2): Show | a0001c0001a0007c0014a0008c0006others(2): Show | a0001c0001t0003a0007c0014t0001a0008c0006t0002others(2): Show | a0001c0001t0003g0006a0007c0014t0001g0073a0008c0006t0002g0060others(5): Show | 8 | 254 | 0.0315 | -7 | c.-84 others(24): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK1_chr9_499695_751103 | 545724 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp1 others(77): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0058a0001c0061others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0027a0001c0001t0001g0055a0001c0001t0001g0117others(77): Show | 80 | 254 | 0.3150 | -7 | c.-84 others(26): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK1_chr9_499695_751103 | 545745 | TTTTTTTA | T | intron_variant | MODIFIER | HG00558.hp2 HG01123.hp2 HG01934.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(1): Show | a0001c0001t0001g0040a0001c0001t0004g0019a0001c0001t0004g0051others(4): Show | 7 | 254 | 0.0276 | -7 | c.-84 others(26): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 692338 | TGGGCTTG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(174): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0053a0001c0054others(48): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(67): Show | a0001c0001t0001g0015a0001c0001t0001g0027a0001c0001t0001g0040others(174): Show | 177 | 254 | 0.6969 | -7 | c.37+ others(24): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK1_chr9_499695_751103 | 740769 | CTTTTTTT | C | splice_region_variant others(1): Show |
LOW | HG00099.hp1 HG00639.hp1 HG01081.hp2 others(20): Show |
a0001a0002a0004others(4): Show | a0001c0054a0002c0007a0004c0005others(10): Show | a0001c0054t0008a0002c0007t0001a0002c0007t0002others(12): Show | a0001c0054t0008g0077a0002c0007t0001g0138a0002c0007t0002g0123others(20): Show | 23 | 254 | 0.0906 | -7 | c.355 others(21): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KANK1_chr9_499695_751103 | 746927 | TCTTTCCC | T | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01081.hp2 HG01891.hp2 others(14): Show |
a0002a0003a0004others(4): Show | a0002c0002a0002c0007a0003c0003others(8): Show | a0002c0002t0002a0002c0007t0002a0003c0003t0001others(9): Show | a0002c0002t0002g0147a0002c0007t0002g0123a0002c0007t0002g0143others(14): Show | 17 | 254 | 0.0669 | -7 | c.*16 others(18): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 825 | chr9 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 748135 | GAAAAAAA | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01257.hp2 others(29): Show |
a0001a0002a0004others(10): Show | a0001c0001a0002c0002a0002c0044others(12): Show | a0001c0001t0005a0001c0001t0006a0002c0002t0003others(15): Show | a0001c0001t0005g0107a0001c0001t0005g0241a0001c0001t0005g0242others(29): Show | 32 | 254 | 0.1260 | -7 | c.*29 others(18): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 2033 | chr9 | TogoVar | ||||||
KANK2_chr19_11159270_11202545 | 11189603 | CAAAAAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG01934.hp1 NA18954.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0020 | a0001c0001t0001a0001c0001t0015a0001c0002t0002others(3): Show | a0001c0001t0001g0211a0001c0001t0001g0212a0001c0001t0015g0228others(5): Show | 8 | 394 | 0.0203 | -7 | c.124 others(26): Show |
KANK2 | ENSG00000197256.11 | transcript | ENST00000586659.6 | protein_coding | 4/12 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8326481 | TAAAAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00621.hp1 others(40): Show |
a0002a0003a0005others(3): Show | a0002c0002a0003c0003a0005c0005others(3): Show | a0002c0002t0001a0003c0003t0001a0005c0005t0003others(3): Show | a0002c0002t0001g0016a0002c0002t0001g0242a0002c0002t0001g0250others(39): Show | 43 | 406 | 0.1059 | -7 | c.193 others(26): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8331980 | CTTTTTTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02922.hp2 HG03130.hp2 others(3): Show |
a0005a0009 | a0005c0005a0009c0013 | a0005c0005t0003a0009c0013t0004 | a0005c0005t0003g0069a0005c0005t0003g0386a0009c0013t0004g0050others(3): Show | 6 | 406 | 0.0148 | -7 | c.193 others(26): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 7/10 | chr19 | TogoVar | ||||||
KANK3_chr19_8317584_8348262 | 8346369 | ATATATAT | A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01070.hp1 HG01071.hp1 others(10): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0003c0003t0001a0003c0003t0006others(1): Show | a0001c0001t0001g0087a0001c0001t0001g0170a0001c0001t0001g0234others(10): Show | 13 | 406 | 0.0320 | -7 | c.-31 others(18): Show |
KANK3 | ENSG00000186994.12 | transcript | ENST00000330915.7 | protein_coding | 3108 | chr19 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210067716 | CAAAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01070.hp2 others(29): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(5): Show | a0001c0001t0001g0038a0001c0001t0001g0059a0001c0001t0001g0084others(29): Show | 32 | 284 | 0.1127 | -7 | c.175 others(26): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 6/14 | chr2 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210141158 | CTCTCTGT | C | intron_variant | MODIFIER | HG02630.hp2 HG02922.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0232a0001c0001t0001g0233a0001c0001t0022g0025 | 3 | 284 | 0.0106 | -7 | c.108 others(28): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 2/14 | chr2 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210141194 | CTTTTTCT | C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01123.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0023others(2): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0002g0028others(18): Show | 21 | 284 | 0.0739 | -7 | c.108 others(28): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 2/14 | chr2 | TogoVar | ||||||
KANSL1L_chr2_210016421_210176409 | 210145689 | AAGATGTC | A | intron_variant | MODIFIER | HG02486.hp1 HG03139.hp1 NA18522.hp1 others(1): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0009a0007c0007t0009 | a0001c0001t0009g0011a0001c0001t0009g0012a0001c0001t0009g0013others(1): Show | 4 | 284 | 0.0141 | -7 | c.108 others(26): Show |
KANSL1L | ENSG00000144445.17 | transcript | ENST00000281772.14 | protein_coding | 2/14 | chr2 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46052964 | CAAAAAAA | C | intron_variant | MODIFIER | HG00597.hp2 HG02698.hp2 NA18747.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118a0001c0001t0002g0128a0001c0001t0002g0131others(5): Show | 8 | 321 | 0.0249 | -7 | c.184 others(26): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46062355 | CTTTTTTT | C | intron_variant | MODIFIER | HG02486.hp2 HG02622.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0104a0001c0001t0001g0113a0001c0001t0001g0116others(5): Show | 8 | 321 | 0.0249 | -7 | c.184 others(26): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 6/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46092711 | TTTTTGGG | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(16): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024 | a0003c0004t0005g0301a0003c0004t0005g0302a0003c0004t0005g0303others(16): Show | 19 | 321 | 0.0592 | -7 | c.143 others(26): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 3/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46101754 | CAAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024a0003c0004t0025 | a0003c0004t0005g0301a0003c0004t0005g0302a0003c0004t0005g0303others(19): Show | 22 | 321 | 0.0685 | -7 | c.129 others(26): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46149004 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(19): Show |
a0003 | a0003c0004 | a0003c0004t0005a0003c0004t0024a0003c0004t0025 | a0003c0004t0005g0301a0003c0004t0005g0302a0003c0004t0005g0303others(19): Show | 22 | 321 | 0.0685 | -7 | c.128 others(28): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46161250 | TAAAAAAA | T | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02451.hp2 others(10): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0004a0002c0003t0004a0003c0004t0005 | a0001c0001t0004g0203a0001c0001t0004g0204a0001c0001t0004g0205others(10): Show | 13 | 321 | 0.0405 | -7 | c.128 others(26): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 2/14 | chr17 | TogoVar | ||||||
KANSL1_chr17_46024916_46198429 | 46183562 | GGAGGAGA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01074.hp2 others(20): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0014a0003c0004t0005a0003c0004t0024others(1): Show | a0001c0001t0014g0001a0003c0004t0005g0301a0003c0004t0005g0302others(20): Show | 23 | 321 | 0.0717 | -7 | c.-90 others(24): Show |
KANSL1 | ENSG00000120071.15 | transcript | ENST00000432791.7 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
KARS1_chr16_75622724_75652665 | 75624133 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01070.hp1 HG01071.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0040others(31): Show | 42 | 380 | 0.1105 | -7 | c.*37 others(18): Show |
KARS1 | ENSG00000065427.15 | transcript | ENST00000302445.8 | protein_coding | 3590 | chr16 | TogoVar |