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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KBTBD11_chr8_1968677_2011936 | 1990481 | ACTTGGCG others(26): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG02055.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0061others(1): Show | a0001c0001t0001g0349a0001c0001t0006g0023a0001c0001t0006g0030others(3): Show | 6 | 389 | 0.0154 | -33 | c.-90 others(52): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 1990569 | ATGCTGCG others(26): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(159): Show |
a0001a0007a0008 | a0001c0001a0001c0003a0007c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(23): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(153): Show | 162 | 389 | 0.4165 | -33 | c.-90 others(52): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 1990609 | GGGGCCTT others(26): Show |
G | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0046 | 1 | 389 | 0.0026 | -33 | c.-90 others(52): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 1991005 | GGGGCCTT others(26): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01891.hp1 HG01934.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(7): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0146others(20): Show | 25 | 389 | 0.0643 | -33 | c.-90 others(52): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KBTBD11_chr8_1968677_2011936 | 1991038 | CGGGCCTT others(26): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0279 | 1 | 389 | 0.0026 | -33 | c.-90 others(52): Show |
KBTBD11 | ENSG00000176595.4 | transcript | ENST00000320248.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
KCNA5_chr12_5038879_5051788 | 5044331 | TCGGGAGT others(26): Show |
T | disruptive_inframe_deletion | MODERATE | homoSapiens_chm13v2.hp1 | a0013 | a0013c0010 | a0013c0010t0002 | a0013c0010t0002g0000 | 1 | 452 | 0.0022 | -33 | c.213 others(40): Show |
p.Asp others(11): Show |
KCNA5 | ENSG00000130037.5 | transcript | ENST00000252321.5 | protein_coding | 1/1 | 482/2910 | 213/1842 | 71/613 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
KCNC4_chr1_110205314_110239044 | 110236730 | TGCTCTGG others(26): Show |
T | downstream_gene_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 430 | 0.0023 | -33 | c.*37 others(44): Show |
KCNC4 | ENSG00000116396.15 | transcript | ENST00000438661.3 | protein_coding | 2687 | chr1 | TogoVar | ||||||
KCNE2_chr21_34359006_34376381 | 34368234 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0077 | 1 | 434 | 0.0023 | -33 | c.-12 others(50): Show |
KCNE2 | ENSG00000159197.4 | transcript | ENST00000290310.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
KCNE2_chr21_34359006_34376381 | 34368244 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG02004.hp1 HG02109.hp1 HG02258.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0090a0001c0001t0001g0094others(4): Show | 12 | 434 | 0.0277 | -33 | c.-12 others(50): Show |
KCNE2 | ENSG00000159197.4 | transcript | ENST00000290310.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
KCNH8_chr3_19143510_19540642 | 19308706 | CTCTCTCT others(26): Show |
C | intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 134 | 0.0075 | -33 | c.442 others(52): Show |
KCNH8 | ENSG00000183960.9 | transcript | ENST00000328405.7 | protein_coding | 3/15 | chr3 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20821990 | GCATGTGT others(26): Show |
G | intron_variant | MODIFIER | HG02615.hp2 HG02896.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0013a0001c0001t0001g0024a0001c0001t0001g0056others(3): Show | 6 | 80 | 0.0750 | -33 | c.288 others(52): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 3/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20932004 | TATAATAG others(26): Show |
T | intron_variant | MODIFIER | HG01517.hp1 HG02886.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0003g0061a0001c0001t0005g0027a0001c0002t0001g0055others(1): Show | 4 | 80 | 0.0500 | -33 | c.62- others(50): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20932151 | CAGTCTAA others(26): Show |
C | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0048 | 1 | 80 | 0.0125 | -33 | c.62- others(50): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 20932448 | CAGTCTAA others(26): Show |
C | intron_variant | MODIFIER | HG01517.hp1 HG02056.hp1 HG02145.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0017a0001c0001t0001g0022others(5): Show | 8 | 80 | 0.1000 | -33 | c.62- others(50): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21015575 | TTAATATA others(26): Show |
T | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 80 | 0.0125 | -33 | c.62- others(52): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21015616 | ATATAGTA others(26): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0068a0001c0001t0002g0035a0001c0001t0002g0036others(4): Show | 7 | 80 | 0.0875 | -33 | c.62- others(52): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21015631 | TTAATATA others(26): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG02886.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0013a0001c0001t0003g0002a0001c0001t0005g0027others(2): Show | 5 | 80 | 0.0625 | -33 | c.62- others(52): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21291862 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG02300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0008 | a0001c0001t0004g0043a0001c0002t0008g0010 | 2 | 80 | 0.0250 | -33 | c.62- others(52): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21291866 | AAAAAGAA others(26): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0003 | 1 | 80 | 0.0125 | -33 | c.62- others(52): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
KCNK2_chr1_215077737_215242090 | 215093745 | AATATATT others(26): Show |
A | intron_variant | MODIFIER | HG01099.hp1 HG01346.hp2 HG01516.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029a0001c0001t0030others(2): Show | a0001c0001t0002g0095a0001c0001t0029g0102a0001c0001t0029g0103others(4): Show | 7 | 260 | 0.0269 | -33 | c.357 others(50): Show |
KCNK2 | ENSG00000082482.14 | transcript | ENST00000444842.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KCNQ2_chr20_63395208_63477655 | 63404352 | GGGGGGAG others(26): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01346.hp1 HG01934.hp2 HG02486.hp1 others(2): Show |
a0002 | a0002c0001a0002c0013 | a0002c0001t0021a0002c0001t0066a0002c0013t0021 | a0002c0001t0021g0218a0002c0001t0021g0219a0002c0001t0066g0217others(2): Show | 5 | 330 | 0.0152 | -33 | c.*22 others(44): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 17/17 | 2259 | chr20 | TogoVar | |||||
KCNQ2_chr20_63395208_63477655 | 63443066 | CCATTATC others(26): Show |
C | intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0286 | 1 | 330 | 0.0030 | -33 | c.691 others(48): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63443521 | CACCATCA others(26): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01081.hp2 others(38): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0012others(3): Show | a0001c0002t0005a0001c0002t0009a0001c0002t0010others(22): Show | a0001c0002t0005g0021a0001c0002t0005g0022a0001c0002t0005g0045others(38): Show | 41 | 330 | 0.1242 | -33 | c.691 others(49): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 4/16 | chr20 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63461676 | CACCTACC others(26): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0028 | a0001c0028t0091 | a0001c0028t0091g0024 | 1 | 330 | 0.0030 | -33 | c.296 others(52): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | ||||||
KCNQ2_chr20_63395208_63477655 | 63462752 | TTCAAGGT others(26): Show |
T | intron_variant | MODIFIER | NA19074.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0018 | 1 | 330 | 0.0030 | -33 | c.296 others(50): Show |
KCNQ2 | ENSG00000075043.21 | transcript | ENST00000359125.7 | protein_coding | 1/16 | chr20 | TogoVar | ||||||
KCNRG_chr13_50010444_50025922 | 50015087 | AAAAAAAA others(26): Show |
A | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01496.hp2 HG01993.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 4 | 448 | 0.0089 | -33 | c.-40 others(42): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 356 | chr13 | TogoVar | ||||||
KCNRG_chr13_50010444_50025922 | 50015093 | AAATATAT others(26): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00609.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0025 | 28 | 448 | 0.0625 | -33 | c.-40 others(42): Show |
KCNRG | ENSG00000198553.9 | transcript | ENST00000312942.2 | protein_coding | 350 | chr13 | TogoVar | ||||||
KCTD3_chr1_215562304_215626807 | 215622520 | AAGGCTTA others(26): Show |
A | downstream_gene_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0195 | 1 | 314 | 0.0032 | -33 | c.*19 others(44): Show |
KCTD3 | ENSG00000136636.13 | transcript | ENST00000259154.9 | protein_coding | 714 | chr1 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67168583 | ACACACAC others(26): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0068a0001c0001t0001g0095a0001c0001t0001g0111others(7): Show | 10 | 220 | 0.0455 | -33 | c.43- others(50): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 2/20 | chr11 | TogoVar | ||||||
KDM2A_chr11_67114263_67263082 | 67247038 | TATATATA others(26): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0100a0001c0001t0001g0103others(1): Show | 4 | 220 | 0.0182 | -33 | c.196 others(50): Show |
KDM2A | ENSG00000173120.15 | transcript | ENST00000529006.7 | protein_coding | 15/20 | chr11 | TogoVar | ||||||
KDM4C_chr9_6752973_7180648 | 6864233 | TTATCACT others(26): Show |
T | intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0198 | 1 | 266 | 0.0038 | -33 | c.629 others(52): Show |
KDM4C | ENSG00000107077.20 | transcript | ENST00000381309.8 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KIAA0513_chr16_85022795_85099218 | 85027746 | ACAGCTCG others(26): Show |
A | upstream_gene_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0041 | 1 | 390 | 0.0026 | -33 | c.-28 others(42): Show |
KIAA0513 | ENSG00000135709.14 | transcript | ENST00000683363.1 | protein_coding | 48 | chr16 | TogoVar | ||||||
KIAA1217_chr10_24204138_24552843 | 24303802 | TTGTGTTT others(26): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0087 | a0003c0087t0002 | a0003c0087t0002g0059 | 1 | 240 | 0.0042 | -33 | c.355 others(52): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1217_chr10_24204138_24552843 | 24337617 | TTTCTTTT others(26): Show |
T | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0013 | a0001c0013t0005 | a0001c0013t0005g0057 | 1 | 240 | 0.0042 | -33 | c.355 others(52): Show |
KIAA1217 | ENSG00000120549.19 | transcript | ENST00000376454.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33530425 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0058 | a0001c0058t0031 | a0001c0058t0031g0101 | 1 | 226 | 0.0044 | -33 | c.239 others(52): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33530427 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0072 | a0001c0072t0049 | a0001c0072t0049g0177 | 1 | 226 | 0.0044 | -33 | c.239 others(52): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33530429 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0081 | a0001c0081t0072 | a0001c0081t0072g0066 | 1 | 226 | 0.0044 | -33 | c.239 others(52): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1549L_chr11_33371108_33679102 | 33614551 | TATATATA others(26): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01358.hp1 |
a0001 | a0001c0007 | a0001c0007t0021 | a0001c0007t0021g0179a0001c0007t0021g0180 | 2 | 226 | 0.0089 | -33 | c.528 others(52): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 15/20 | chr11 | TogoVar | ||||||
KIAA1549L_chr11_33371108_33679102 | 33614552 | ATATATAT others(26): Show |
A | intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 226 | 0.0044 | -33 | c.528 others(52): Show |
KIAA1549L | ENSG00000110427.17 | transcript | ENST00000658780.2 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
KIAA1671_chr22_24947716_25202448 | 25068161 | GGCCTTCC others(26): Show |
G | intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 254 | 0.0039 | -33 | c.453 others(54): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KIAA1671_chr22_24947716_25202448 | 25068178 | GTCAGGGA others(26): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG02922.hp1 NA18969.hp2 |
a0001a0006 | a0001c0065a0001c0067a0006c0046 | a0001c0065t0025a0001c0067t0008a0006c0046t0004 | a0001c0065t0025g0066a0001c0067t0008g0252a0006c0046t0004g0163 | 3 | 254 | 0.0118 | -33 | c.453 others(54): Show |
KIAA1671 | ENSG00000197077.14 | transcript | ENST00000358431.8 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
KIAA1755_chr20_38205503_38265735 | 38262397 | TAGACTAT others(26): Show |
T | upstream_gene_variant | MODIFIER | HG02896.hp2 HG03540.hp2 NA18906.hp1 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0003a0001c0001t0018a0006c0006t0003 | a0001c0001t0003g0302a0001c0001t0018g0301a0006c0006t0003g0300 | 3 | 358 | 0.0084 | -33 | c.-19 others(44): Show |
KIAA1755 | ENSG00000149633.12 | transcript | ENST00000279024.9 | protein_coding | 1663 | chr20 | TogoVar | ||||||
KIDINS220_chr2_8723858_8842613 | 8744380 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01123.hp2 others(22): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0009 | a0002c0002t0001g0002a0002c0002t0001g0019a0002c0002t0001g0045others(20): Show | 25 | 334 | 0.0749 | -33 | c.358 others(52): Show |
KIDINS220 | ENSG00000134313.17 | transcript | ENST00000256707.8 | protein_coding | 26/29 | chr2 | TogoVar | ||||||
KIDINS220_chr2_8723858_8842613 | 8744382 | AAAAAAAA others(26): Show |
A | intron_variant | MODIFIER | HG02083.hp1 NA18942.hp1 NA18954.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0298a0002c0002t0001g0007a0002c0002t0001g0275others(7): Show | 11 | 334 | 0.0329 | -33 | c.358 others(52): Show |
KIDINS220 | ENSG00000134313.17 | transcript | ENST00000256707.8 | protein_coding | 26/29 | chr2 | TogoVar | ||||||
KIF13B_chr8_29062278_29268070 | 29097249 | CTATCAGG others(26): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00558.hp2 others(61): Show |
a0001a0016 | a0001c0001a0001c0002a0001c0018others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0001g0122a0001c0001t0001g0124a0001c0001t0001g0125others(61): Show | 64 | 288 | 0.2222 | -33 | c.432 others(52): Show |
KIF13B | ENSG00000197892.13 | transcript | ENST00000524189.6 | protein_coding | 36/39 | chr8 | TogoVar | ||||||
KIF16B_chr20_16267104_16578448 | 16576743 | ATATATAT others(26): Show |
A | upstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 | 1 | 250 | 0.0040 | -33 | c.-35 others(44): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 3296 | chr20 | TogoVar | ||||||
KIF16B_chr20_16267104_16578448 | 16576745 | ATATATAT others(26): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp1 NA18974.hp2 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0010t0003 | a0001c0002t0001g0026a0001c0010t0003g0025 | 2 | 250 | 0.0080 | -33 | c.-35 others(44): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 3298 | chr20 | TogoVar | ||||||
KIF16B_chr20_16267104_16578448 | 16576747 | ATATATAT others(26): Show |
A | upstream_gene_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0049 | 1 | 250 | 0.0040 | -33 | c.-35 others(44): Show |
KIF16B | ENSG00000089177.20 | transcript | ENST00000354981.7 | protein_coding | 3300 | chr20 | TogoVar | ||||||
KIF17_chr1_20659014_20723007 | 20717839 | CGGGGGGC others(26): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0002 | 1 | 414 | 0.0024 | -33 | c.-16 others(42): Show |
KIF17 | ENSG00000117245.13 | transcript | ENST00000400463.8 | protein_coding | 1/15 | 134 | chr1 | TogoVar | |||||
KIF1A_chr2_240708767_240825219 | 240805046 | TGGGGAGG others(26): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(120): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0004others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0067a0001c0001t0001g0090a0001c0001t0001g0091others(120): Show | 123 | 330 | 0.3727 | -33 | c.-60 others(50): Show |
KIF1A | ENSG00000130294.18 | transcript | ENST00000498729.9 | protein_coding | 1/48 | chr2 | TogoVar |