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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KAZN_chr1_14593685_15123043 | 14883337 | A | AGAGAGAG others(44): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0142 | 1 | 146 | 0.0069 | 51 | c.227 others(70): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KAZN_chr1_14593685_15123043 | 14883351 | A | AGAGGGAG others(44): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 146 | 0.0069 | 51 | c.227 others(70): Show |
KAZN | ENSG00000189337.17 | transcript | ENST00000376030.7 | protein_coding | 1/14 | chr1 | TogoVar | ||||||
KBTBD2_chr7_32863172_32896760 | 32891878 | G | GCCGCCCC others(44): Show |
upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 434 | 0.0023 | 51 | c.-68 others(60): Show |
KBTBD2 | ENSG00000170852.12 | transcript | ENST00000304056.9 | protein_coding | 119 | chr7 | TogoVar | ||||||
KCMF1_chr2_84966161_85064472 | 85008354 | A | ATCATATA others(44): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02257.hp1 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0024 | a0001c0001t0011g0251a0001c0001t0011g0252a0001c0001t0011g0258others(2): Show | 5 | 274 | 0.0183 | 51 | c.17- others(68): Show |
KCMF1 | ENSG00000176407.18 | transcript | ENST00000409785.9 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215209807 | T | TATATATA others(44): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0249 | 1 | 260 | 0.0039 | 51 | c.963 others(70): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNK6_chr19_38314845_38337076 | 38328878 | G | GAGAGGAA others(44): Show |
3_prime_UTR_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0069 | a0002c0002t0069g0002 | 1 | 398 | 0.0025 | 51 | c.*14 others(62): Show |
KCNK6 | ENSG00000099337.5 | transcript | ENST00000263372.5 | protein_coding | 3/3 | 1479 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
KCNQ2_chr20_63395208_63477655 | 63442719 | C | CCACCACC others(44): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0002 | a0002c0006 | a0002c0006t0101 | a0002c0006t0101g0308 | 1 | 330 | 0.0030 | 51 | c.691 others(66): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63442719 | C | CCATCACC others(44): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0274 | 1 | 330 | 0.0030 | 51 | c.691 others(66): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | ||||||
KCNS3_chr2_17873667_17937958 | 17887011 | G | GATGAGAA others(44): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02486.hp2 HG02738.hp1 others(9): Show |
a0001a0006a0008 | a0001c0001a0001c0002a0006c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0096a0001c0001t0002g0005a0001c0001t0002g0092others(8): Show | 12 | 384 | 0.0313 | 51 | c.-25 others(70): Show |
KCNS3 | ENSG00000170745.12 | transcript | ENST00000304101.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
KDM1B_chr6_18150422_18228854 | 18155122 | T | TCCGCGCC others(44): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0357 | 1 | 392 | 0.0026 | 51 | c.-50 others(60): Show |
KDM1B | ENSG00000165097.16 | transcript | ENST00000650836.2 | protein_coding | 299 | chr6 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7052909 | G | GAGACAGC others(44): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0046 | a0002c0046t0001 | a0002c0046t0001g0133 | 1 | 266 | 0.0038 | 51 | c.242 others(70): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 7052909 | G | GAGAGAGC others(44): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG01346.hp1 others(10): Show |
a0001a0002a0003others(4): Show | a0001c0002a0002c0003a0003c0007others(5): Show | a0001c0002t0002a0001c0002t0004a0002c0003t0001others(6): Show | a0001c0002t0002g0009a0001c0002t0002g0064a0001c0002t0004g0203others(10): Show | 13 | 266 | 0.0489 | 51 | c.242 others(70): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
KHSRP_chr19_6408102_6429811 | 6411491 | T | TAAATAAA others(44): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 HG03209.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0033a0001c0001t0046a0001c0001t0054others(1): Show | a0001c0001t0033g0094a0001c0001t0046g0093a0001c0001t0054g0175others(1): Show | 4 | 386 | 0.0104 | 51 | c.*35 others(62): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 1610 | chr19 | TogoVar | ||||||
KIAA0825_chr5_94145851_94623604 | 94529315 | T | TATATATG others(44): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0003 | a0002c0003t0020 | a0002c0003t0020g0012 | 1 | 54 | 0.0185 | 51 | c.132 others(68): Show |
KIAA0825 | ENSG00000185261.16 | transcript | ENST00000682413.1 | protein_coding | 3/20 | chr5 | TogoVar | ||||||
KIAA1671_chr22_24947716_25202448 | 24991316 | C | CCCAGCCC others(44): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0005 | a0005c0068 | a0005c0068t0004 | a0005c0068t0004g0156 | 1 | 254 | 0.0039 | 51 | c.-20 others(72): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KIF13B_chr8_29062278_29268070 | 29228472 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0143 | 1 | 288 | 0.0035 | 51 | c.149 others(70): Show |
KIF13B | ENSG00000197892.13 | transcript | ENST00000524189.6 | protein_coding | 2/39 | chr8 | TogoVar | ||||||
KIF3C_chr2_25921598_25987497 | 25962811 | T | TATATATA others(44): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 240 | 0.0042 | 51 | c.154 others(70): Show |
KIF3C | ENSG00000084731.15 | transcript | ENST00000264712.8 | protein_coding | 1/7 | chr2 | TogoVar | ||||||
KIFAP3_chr1_169916329_170079695 | 169973105 | G | GTGTATAT others(44): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 372 | 0.0027 | 51 | c.189 others(68): Show |
KIFAP3 | ENSG00000075945.13 | transcript | ENST00000361580.7 | protein_coding | 16/19 | chr1 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126472992 | A | ACCCCCCA others(44): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0035 | 1 | 114 | 0.0088 | 51 | c.591 others(66): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 5/16 | chr11 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126473080 | T | TCTACCTA others(44): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01255.hp2 HG01433.hp2 others(9): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(7): Show | a0001c0001t0002g0092a0001c0001t0003g0104a0001c0001t0013g0105others(9): Show | 12 | 114 | 0.1053 | 51 | c.591 others(66): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 5/16 | chr11 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126473080 | T | TCTACCTA others(44): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(49): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(33): Show | a0001c0001t0002g0062a0001c0001t0002g0065a0001c0001t0002g0071others(49): Show | 52 | 114 | 0.4561 | 51 | c.591 others(66): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 5/16 | chr11 | TogoVar | ||||||
KLHL33_chr14_20420852_20441166 | 20430791 | T | TACTCTAA others(44): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0002 | a0002c0002 | a0002c0002t0100 | a0002c0002t0100g0155 | 1 | 480 | 0.0021 | 51 | c.749 others(64): Show |
KLHL33 | ENSG00000185271.9 | transcript | ENST00000636854.3 | protein_coding | 2/4 | chr14 | TogoVar | ||||||
KNDC1_chr10_133155219_133231412 | 133185912 | C | CGGGAGGA others(44): Show |
intron_variant | MODIFIER | HG01074.hp1 NA19030.hp2 |
a0002a0023 | a0002c0006a0023c0064 | a0002c0006t0004a0023c0064t0001 | a0002c0006t0004g0287a0023c0064t0001g0155 | 2 | 332 | 0.0060 | 51 | c.626 others(64): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KNDC1_chr10_133155219_133231412 | 133185912 | C | CGGGAGGA others(44): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0013 | a0013c0023 | a0013c0023t0004 | a0013c0023t0004g0305 | 1 | 332 | 0.0030 | 51 | c.626 others(64): Show |
KNDC1 | ENSG00000171798.19 | transcript | ENST00000304613.8 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KRTAP10-4_chr21_44568729_44580371 | 44576320 | A | ACTCATGG others(44): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00597.hp2 others(19): Show |
a0000a0001a0002others(2): Show | a0000c0012a0001c0002a0002c0001others(2): Show | a0000c0012t0005a0001c0002t0001a0002c0001t0002others(4): Show | a0000c0012t0005g0000a0001c0002t0001g0000a0002c0001t0002g0000others(4): Show | 22 | 476 | 0.0462 | 51 | c.*13 others(62): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 950 | chr21 | TogoVar | ||||||
KRTAP10-5_chr21_44574455_44585604 | 44576320 | A | ACTCATGG others(44): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00597.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0000a0001c0001t0003g0000a0001c0001t0005g0000others(3): Show | 18 | 468 | 0.0385 | 51 | c.*33 others(62): Show |
KRTAP10-5 | ENSG00000241123.1 | transcript | ENST00000400372.1 | protein_coding | 3134 | chr21 | TogoVar | ||||||
KRTAP2-1_chr17_41041541_41052316 | 41051410 | A | ATAATATA others(44): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 NA19056.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 2 | 407 | 0.0049 | 51 | c.-41 others(62): Show |
KRTAP2-1 | ENSG00000212725.4 | transcript | ENST00000391419.3 | protein_coding | 4095 | chr17 | TogoVar | ||||||
KRTAP2-2_chr17_41049498_41060230 | 41051410 | A | ATAATATA others(44): Show |
downstream_gene_variant | MODIFIER | NA18972.hp2 NA19004.hp2 NA19007.hp1 others(2): Show |
a0000a0001 | a0000c0013a0001c0001 | a0000c0013t0001a0001c0001t0001 | a0000c0013t0001g0000a0001c0001t0001g0000 | 5 | 411 | 0.0122 | 51 | c.*34 others(62): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 3087 | chr17 | TogoVar | ||||||
KRTAP5-9_chr11_71543420_71554608 | 71554241 | C | CCTCAGCC others(44): Show |
downstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 422 | 0.0024 | 51 | c.*50 others(62): Show |
KRTAP5-9 | ENSG00000254997.4 | transcript | ENST00000528743.4 | protein_coding | 4634 | chr11 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62321225 | A | AGGAAGAG others(44): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01496.hp1 |
a0020 | a0020c0051a0020c0053 | a0020c0051t0001a0020c0053t0001 | a0020c0051t0001g0062a0020c0053t0001g0063 | 2 | 186 | 0.0108 | 51 | c.649 others(68): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62321452 | T | TGGGGCCA others(44): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02071.hp1 HG02257.hp2 others(4): Show |
a0002a0019a0055others(2): Show | a0002c0012a0002c0125a0019c0022others(3): Show | a0002c0012t0001a0002c0125t0001a0019c0022t0001others(3): Show | a0002c0012t0001g0164a0002c0125t0001g0027a0019c0022t0001g0155others(4): Show | 7 | 186 | 0.0376 | 51 | c.649 others(68): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62321714 | A | AGAGGGGT others(44): Show |
intron_variant | MODIFIER | HG00642.hp1 HG02273.hp1 |
a0002a0052 | a0002c0003a0052c0118 | a0002c0003t0001a0052c0118t0001 | a0002c0003t0001g0130a0052c0118t0001g0074 | 2 | 186 | 0.0108 | 51 | c.649 others(68): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 48/79 | chr20 | TogoVar | ||||||
LAP3_chr4_17572198_17612970 | 17580185 | T | TATATATA others(44): Show |
intron_variant | MODIFIER | HG02280.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0003 | a0001c0001t0001g0228a0001c0005t0003g0186 | 2 | 300 | 0.0067 | 51 | c.218 others(66): Show |
LAP3 | ENSG00000002549.13 | transcript | ENST00000226299.9 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
LARP4_chr12_50395885_50485004 | 50446354 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0275 | 1 | 318 | 0.0031 | 51 | c.804 others(68): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LARP4_chr12_50395885_50485004 | 50446356 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | NA18948.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0296a0001c0001t0001g0318 | 2 | 318 | 0.0063 | 51 | c.804 others(68): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LARP4_chr12_50395885_50485004 | 50446358 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 318 | 0.0031 | 51 | c.804 others(68): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LARP4_chr12_50395885_50485004 | 50446360 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0240 | 1 | 318 | 0.0031 | 51 | c.804 others(68): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LARP4_chr12_50395885_50485004 | 50446360 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0030 | 1 | 318 | 0.0031 | 51 | c.804 others(68): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LARP4_chr12_50395885_50485004 | 50446360 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 318 | 0.0031 | 51 | c.804 others(68): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LARP4_chr12_50395885_50485004 | 50446364 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 318 | 0.0031 | 51 | c.804 others(68): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LARP4_chr12_50395885_50485004 | 50446364 | T | TCTCTCTC others(44): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 318 | 0.0031 | 51 | c.804 others(68): Show |
LARP4 | ENSG00000161813.23 | transcript | ENST00000398473.7 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LASP1NB_chr17_38920614_38934381 | 38925934 | T | TTGCTTTC others(44): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0004 | 1 | 422 | 0.0024 | 51 | c.*12 others(66): Show |
LASP1NB | ENSG00000263874.3 | transcript | ENST00000583195.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
LASP1_chr17_38865058_38926770 | 38925934 | T | TTGCTTTC others(44): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 396 | 0.0025 | 51 | c.*71 others(62): Show |
LASP1 | ENSG00000002834.19 | transcript | ENST00000318008.11 | protein_coding | 4165 | chr17 | TogoVar | ||||||
LAT_chr16_28980052_28995784 | 28984442 | A | ATTAAGCG others(44): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 434 | 0.0023 | 51 | c.-97 others(60): Show |
LAT | ENSG00000213658.13 | transcript | ENST00000395456.7 | protein_coding | 609 | chr16 | TogoVar | ||||||
LCK_chr1_32246265_32291165 | 32259299 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 274 | 0.0037 | 51 | c.-6+ others(66): Show |
LCK | ENSG00000182866.18 | transcript | ENST00000336890.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LCMT1_chr16_25106742_25183228 | 25163467 | C | CAAAAAAA others(44): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 348 | 0.0029 | 51 | c.570 others(68): Show |
LCMT1 | ENSG00000205629.12 | transcript | ENST00000399069.8 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
LEP_chr7_128236278_128262629 | 128258721 | C | CTTTTCTT others(44): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 HG02165.hp1 HG03942.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0044a0003c0007t0050 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0071others(2): Show | 6 | 395 | 0.0152 | 51 | c.*39 others(62): Show |
LEP | ENSG00000174697.5 | transcript | ENST00000308868.5 | protein_coding | 1093 | chr7 | TogoVar | ||||||
LEP_chr7_128236278_128262629 | 128258733 | C | CTTTCTTT others(44): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(10): Show | 24 | 395 | 0.0608 | 51 | c.*39 others(62): Show |
LEP | ENSG00000174697.5 | transcript | ENST00000308868.5 | protein_coding | 1105 | chr7 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507259 | G | GGGTAGGG others(44): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0011 | 1 | 260 | 0.0039 | 51 | c.624 others(68): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LIG1_chr19_48110445_48175344 | 48115543 | A | ATATAAAG others(44): Show |
3_prime_UTR_variant | MODIFIER | NA18985.hp1 | a0000 | a0000c0013 | a0000c0013t0007 | a0000c0013t0007g0182 | 1 | 330 | 0.0030 | 51 | c.*10 others(60): Show |
LIG1 | ENSG00000105486.15 | transcript | ENST00000263274.12 | protein_coding | 28/28 | 105 | chr19 | TogoVar |