| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GOLGA3_chr12_132763914_132833869 | 132773797 | CCCCTCCC others(69): Show |
C | intron_variant | MODIFIER | HG02132.hp2 HG02717.hp1 |
a0001a0014 | a0001c0018a0014c0020 | a0001c0018t0019a0014c0020t0019 | a0001c0018t0019g0132a0014c0020t0019g0003 | 2 | 308 | 0.0065 | -76 | c.430 others(93): Show |
GOLGA3 | ENSG00000090615.16 | transcript | ENST00000450791.8 | protein_coding | 23/23 | chr12 | TogoVar | ||||||
| GOLM2_chr15_44283719_44420758 | 44288493 | CGAGAGAG others(69): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02572.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088a0001c0001t0001g0089a0001c0001t0001g0113 | 3 | 150 | 0.0200 | -76 | c.-53 others(85): Show |
GOLM2 | ENSG00000166734.20 | transcript | ENST00000299957.11 | protein_coding | 225 | chr15 | TogoVar | ||||||
| GPC6_chr13_93221807_94413020 | 93231321 | ATATATAT others(69): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0020 | 1 | 76 | 0.0132 | -76 | c.160 others(93): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GPR35_chr2_240620480_240638159 | 240623293 | GAAACAGG others(69): Show |
G | upstream_gene_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 400 | 0.0025 | -76 | c.-22 others(87): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2186 | chr2 | TogoVar | ||||||
| GPR35_chr2_240620480_240638159 | 240623386 | CGCAAACA others(69): Show |
C | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00733.hp2 others(37): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0009others(3): Show | a0001c0001t0002a0001c0001t0026a0002c0002t0001others(6): Show | a0001c0001t0002g0003a0001c0001t0002g0012a0001c0001t0002g0095others(25): Show | 40 | 400 | 0.1000 | -76 | c.-21 others(87): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 2093 | chr2 | TogoVar | ||||||
| GRK7_chr3_141758408_141824352 | 141804752 | CACACTCA others(69): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 HG02886.hp2 others(1): Show |
a0004 | a0004c0005a0004c0006 | a0004c0005t0014a0004c0006t0014a0004c0006t0046 | a0004c0005t0014g0011a0004c0005t0014g0013a0004c0006t0014g0012others(1): Show | 4 | 358 | 0.0112 | -76 | c.105 others(95): Show |
GRK7 | ENSG00000114124.3 | transcript | ENST00000682958.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GSK3B_chr3_119816321_120099447 | 119909630 | CGACTTGA others(69): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0052 | 1 | 300 | 0.0033 | -76 | c.715 others(93): Show |
GSK3B | ENSG00000082701.17 | transcript | ENST00000264235.13 | protein_coding | 6/10 | chr3 | TogoVar | ||||||
| GYG2_chrX_2823930_2887818 | 2844642 | GTGTATAC others(69): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(39): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0135a0001c0001t0001g0139a0001c0001t0001g0140others(39): Show | 42 | 316 | 0.1329 | -76 | c.149 others(93): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2845477 | ATATTTAT others(69): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01891.hp1 HG02615.hp2 others(2): Show |
a0001a0002a0004 | a0001c0003a0002c0005a0002c0006others(1): Show | a0001c0003t0002a0002c0005t0007a0002c0006t0005others(1): Show | a0001c0003t0002g0045a0002c0005t0007g0018a0002c0005t0007g0020others(2): Show | 5 | 316 | 0.0158 | -76 | c.149 others(93): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| H3-4_chr1_228419845_228430360 | 228426991 | CTCCCTCC others(69): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01175.hp2 others(20): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0005c0009t0001 | a0001c0001t0001g0000a0005c0009t0001g0000 | 23 | 414 | 0.0556 | -76 | c.-17 others(87): Show |
H3-4 | ENSG00000168148.4 | transcript | ENST00000366696.2 | protein_coding | 1632 | chr1 | TogoVar | ||||||
| HAUS1_chr18_46099385_46133333 | 46112332 | ATATATAT others(69): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03471.hp1 NA20129.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0003 | a0001c0001t0001g0220a0002c0004t0003g0076a0002c0004t0003g0077 | 3 | 372 | 0.0081 | -76 | c.206 others(93): Show |
HAUS1 | ENSG00000152240.13 | transcript | ENST00000282058.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| HECTD4_chr12_112155195_112387431 | 112323965 | TCTTCCTT others(69): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01109.hp2 HG01167.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0006a0001c0001t0003g0011a0001c0001t0003g0013others(16): Show | 19 | 270 | 0.0704 | -76 | c.178 others(93): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 1/75 | chr12 | TogoVar | ||||||
| HEG1_chr3_124960710_125060997 | 125028024 | TCTGACGG others(69): Show |
T | intron_variant | MODIFIER | NA18955.hp1 | a0004 | a0004c0005 | a0004c0005t0009 | a0004c0005t0009g0077 | 1 | 362 | 0.0028 | -76 | c.611 others(91): Show |
HEG1 | ENSG00000173706.15 | transcript | ENST00000311127.9 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
| HERPUD2_chr7_35627659_35700135 | 35682212 | TGTGTGTG others(69): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01106.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0075a0001c0001t0003g0146a0001c0001t0005g0102others(8): Show | 11 | 392 | 0.0281 | -76 | c.148 others(93): Show |
HERPUD2 | ENSG00000122557.11 | transcript | ENST00000311350.8 | protein_coding | 2/8 | chr7 | TogoVar | ||||||
| HHIPL1_chr14_99640129_99685569 | 99656816 | AAAGAAAG others(69): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG02970.hp2 HG03491.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0029 | a0001c0002t0002g0119a0001c0002t0003g0204a0001c0002t0003g0206others(1): Show | 4 | 374 | 0.0107 | -76 | c.903 others(91): Show |
HHIPL1 | ENSG00000182218.10 | transcript | ENST00000330710.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| IKZF3_chr17_39752718_39869312 | 39850484 | AGCATATT others(69): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0107 | 1 | 256 | 0.0039 | -76 | c.7+1 others(91): Show |
IKZF3 | ENSG00000161405.17 | transcript | ENST00000346872.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| IL19_chr1_206765773_206847981 | 206781919 | AGTTATAT others(69): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00738.hp2 others(42): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0068a0001c0001t0001g0081a0001c0001t0001g0083others(40): Show | 45 | 366 | 0.1230 | -76 | c.-14 others(97): Show |
IL19 | ENSG00000142224.18 | transcript | ENST00000659997.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| IL1RAPL1_chrX_28582446_29961718 | 29802805 | ATATATGT others(69): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02723.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0004 | a0001c0001t0001g0067a0001c0001t0001g0129a0001c0001t0002g0025others(2): Show | 5 | 135 | 0.0370 | -76 | c.779 others(97): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL1RAPL1_chrX_28582446_29961718 | 29803224 | TATACACA others(69): Show |
T | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0098 | 1 | 135 | 0.0074 | -76 | c.779 others(97): Show |
IL1RAPL1 | ENSG00000169306.11 | transcript | ENST00000378993.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| IL1RL2_chr2_102182023_102245002 | 102195581 | CTTTCTTT others(69): Show |
C | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 374 | 0.0027 | -76 | c.489 others(93): Show |
IL1RL2 | ENSG00000115598.10 | transcript | ENST00000264257.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| IL1RL2_chr2_102182023_102245002 | 102195585 | CTTTCTTT others(69): Show |
C | intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 374 | 0.0027 | -76 | c.489 others(93): Show |
IL1RL2 | ENSG00000115598.10 | transcript | ENST00000264257.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ILRUN_chr6_34582288_34701767 | 34693629 | AGTTTTTT others(69): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG03130.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062a0001c0001t0002g0063a0001c0001t0002g0064 | 3 | 316 | 0.0095 | -76 | c.158 others(93): Show |
ILRUN | ENSG00000196821.10 | transcript | ENST00000374023.8 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
| INPP4B_chr4_142018160_142851301 | 142245784 | GTGTGTAT others(69): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01106.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0003a0001c0001t0009a0001c0001t0012others(5): Show | a0001c0001t0003g0045a0001c0001t0009g0004a0001c0001t0009g0034others(8): Show | 11 | 90 | 0.1222 | -76 | c.689 others(93): Show |
INPP4B | ENSG00000109452.13 | transcript | ENST00000262992.9 | protein_coding | 11/25 | chr4 | TogoVar | ||||||
| INPP5A_chr10_132532787_132788480 | 132628328 | CAATGACT others(69): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03139.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0074others(2): Show | 5 | 204 | 0.0245 | -76 | c.118 others(95): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
| INPP5A_chr10_132532787_132788480 | 132757733 | CCCCGGCC others(69): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01071.hp1 HG01109.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0014others(13): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(36): Show | 39 | 204 | 0.1912 | -76 | c.903 others(93): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| INSIG2_chr2_118083471_118115997 | 118093433 | AGATGATG others(69): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(91): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(43): Show | 94 | 440 | 0.2136 | -76 | c.-13 others(95): Show |
INSIG2 | ENSG00000125629.16 | transcript | ENST00000245787.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ITGAM_chr16_31254975_31337877 | 31334649 | CTTCCTTC others(69): Show |
C | downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0147 | 1 | 244 | 0.0041 | -76 | c.*29 others(87): Show |
ITGAM | ENSG00000169896.18 | transcript | ENST00000544665.9 | protein_coding | 1773 | chr16 | TogoVar | ||||||
| JAKMIP3_chr10_132060946_132189858 | 132161102 | GGGGGGGT others(69): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0003 | a0003c0018 | a0003c0018t0003 | a0003c0018t0003g0015 | 1 | 158 | 0.0063 | -76 | c.222 others(95): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| JAM3_chr11_134064072_134157001 | 134137748 | CGTGGTGC others(69): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0070 | 1 | 390 | 0.0026 | -76 | c.77- others(91): Show |
JAM3 | ENSG00000166086.13 | transcript | ENST00000299106.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| JARID2_chr6_15241069_15527042 | 15279092 | AAAAAAAA others(69): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG02055.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0109a0001c0001t0001g0113a0001c0001t0002g0040others(26): Show | 29 | 284 | 0.1021 | -76 | c.45+ others(93): Show |
JARID2 | ENSG00000008083.14 | transcript | ENST00000341776.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| JPH2_chr20_44101590_44192188 | 44134037 | TTTATATA others(69): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG01069.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0003t0026others(3): Show | a0001c0001t0001g0249a0001c0001t0001g0257a0001c0001t0001g0260others(7): Show | 10 | 338 | 0.0296 | -76 | c.117 others(97): Show |
JPH2 | ENSG00000149596.7 | transcript | ENST00000372980.4 | protein_coding | 2/5 | chr20 | TogoVar | ||||||
| KCNIP4_chr4_20723606_21953772 | 21528712 | AAAGAAAG others(69): Show |
A | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0041 | 1 | 80 | 0.0125 | -76 | c.61+ others(95): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| KCNIP4_chr4_20723606_21953772 | 21528720 | AAAGAAAG others(69): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0069 | 1 | 80 | 0.0125 | -76 | c.61+ others(95): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| KCNIP4_chr4_20723606_21953772 | 21528728 | AAAGAAAG others(69): Show |
A | intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 80 | 0.0125 | -76 | c.61+ others(95): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| KCNIP4_chr4_20723606_21953772 | 21528732 | AAAGAAAG others(69): Show |
A | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 80 | 0.0125 | -76 | c.61+ others(95): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| KCNIP4_chr4_20723606_21953772 | 21528748 | AAAGAAAG others(69): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 80 | 0.0125 | -76 | c.61+ others(95): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
| KCNMB2_chr3_178531436_178849429 | 178759267 | AGATACAT others(69): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0120 | 1 | 232 | 0.0043 | -76 | c.-67 others(95): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| KCNQ2_chr20_63395208_63477655 | 63445821 | ACCCTGTC others(69): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01256.hp2 NA20752.hp1 |
a0001a0002 | a0001c0004a0002c0001 | a0001c0004t0004a0002c0001t0006 | a0001c0004t0004g0130a0001c0004t0004g0131a0002c0001t0006g0126 | 3 | 330 | 0.0091 | -76 | c.388 others(91): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 2/16 | chr20 | TogoVar | ||||||
| KDM4B_chr19_4964113_5158598 | 5157630 | CCTTAATT others(69): Show |
C | downstream_gene_variant | MODIFIER | NA18964.hp1 | a0003 | a0003c0008 | a0003c0008t0008 | a0003c0008t0008g0102 | 1 | 270 | 0.0037 | -76 | c.*61 others(87): Show |
KDM4B | ENSG00000127663.15 | transcript | ENST00000159111.9 | protein_coding | 4033 | chr19 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 167997233 | GGGGGGTC others(69): Show |
G | upstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0061 | 1 | 375 | 0.0027 | -76 | c.-22 others(87): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 437 | chr6 | TogoVar | ||||||
| KIF25_chr6_167992671_168050091 | 168029510 | CTGACATG others(69): Show |
C | frameshift_variant | HIGH | HG01993.hp2 | a0011 | a0011c0027 | a0011c0027t0050 | a0011c0027t0050g0070 | 1 | 375 | 0.0027 | -76 | c.7_8 others(80): Show |
p.Trp others(3): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 6/13 | 1805/3048 | 7/1155 | 3/384 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| KIF4A_chrX_70285104_70425886 | 70373549 | TATATATA others(69): Show |
T | intron_variant | MODIFIER | HG02040.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0052 | 1 | 259 | 0.0039 | -76 | c.167 others(93): Show |
KIF4A | ENSG00000090889.12 | transcript | ENST00000374403.4 | protein_coding | 15/30 | chrX | TogoVar | ||||||
| KIR3DL1_chr19_54811468_54835778 | 54833741 | GTGGAGTT others(69): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(58): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0013a0002c0038t0002others(1): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(23): Show | 61 | 395 | 0.1544 | -76 | c.*34 others(87): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 2964 | chr19 | TogoVar | ||||||
| KLHDC4_chr16_87702812_87770986 | 87711926 | CCCCTTGG others(69): Show |
C | intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 380 | 0.0026 | -76 | c.836 others(91): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 8/11 | chr16 | TogoVar | ||||||
| LDLRAD4_chr18_13213760_13657751 | 13232455 | ACCTTCCT others(69): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0177 | 1 | 178 | 0.0056 | -76 | c.-46 others(97): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| LEKR1_chr3_156821353_157051129 | 156899405 | TATACATA others(69): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(108): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0003a0001c0001t0001g0077a0001c0001t0001g0080others(108): Show | 111 | 244 | 0.4549 | -76 | c.264 others(95): Show |
LEKR1 | ENSG00000197980.14 | transcript | ENST00000356539.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| LGR6_chr1_202188799_202324761 | 202205135 | AACACACA others(69): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0091 | 1 | 262 | 0.0038 | -76 | c.212 others(95): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LMF1_chr16_848634_975984 | 884793 | GGAGGGAG others(69): Show |
G | intron_variant | MODIFIER | NA18906.hp2 | a0018 | a0018c0058 | a0018c0058t0001 | a0018c0058t0001g0236 | 1 | 294 | 0.0034 | -76 | c.730 others(93): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 5/10 | chr16 | TogoVar | ||||||
| LMF1_chr16_848634_975984 | 961790 | GACACAGA others(69): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG01993.hp2 others(6): Show |
a0001a0003a0012 | a0001c0002a0003c0014a0003c0015others(1): Show | a0001c0002t0001a0003c0014t0001a0003c0015t0001others(1): Show | a0001c0002t0001g0095a0003c0014t0001g0009a0003c0014t0001g0010others(6): Show | 9 | 294 | 0.0306 | -76 | c.194 others(93): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
| LOC128462377_chr16_89312046_89423292 | 89399979 | TCCTGCGC others(69): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0213a0001c0001t0000g0214 | 2 | 366 | 0.0055 | -76 | c.9+1 others(91): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar |