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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2497): Show |
intron_variant | MODIFIER | NA18972.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0078 | 1 | 374 | 0.0027 | 2504 | c.166 others(2521): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2497): Show |
intron_variant | MODIFIER | NA18969.hp2 NA18981.hp1 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0037 | 2 | 374 | 0.0054 | 2504 | c.166 others(2521): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2497): Show |
intron_variant | MODIFIER | NA19075.hp1 | a0002 | a0002c0013 | a0002c0013t0030 | a0002c0013t0030g0066 | 1 | 374 | 0.0027 | 2504 | c.166 others(2521): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2497): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0110 | 1 | 374 | 0.0027 | 2504 | c.166 others(2521): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2497): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(56): Show |
a0001 | a0001c0002a0001c0016 | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(4): Show | a0001c0002t0002g0002a0001c0002t0002g0031a0001c0002t0002g0084others(11): Show | 59 | 374 | 0.1578 | 2504 | c.166 others(2521): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2497): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0114 | 1 | 374 | 0.0027 | 2504 | c.166 others(2521): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2497): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18942.hp2 NA18945.hp2 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 | 10 | 374 | 0.0267 | 2504 | c.166 others(2521): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2497): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0067 | 1 | 374 | 0.0027 | 2504 | c.166 others(2521): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2497): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(113): Show |
a0002a0004a0005others(1): Show | a0002c0001a0004c0007a0005c0011others(1): Show | a0002c0001t0001a0002c0001t0006a0002c0001t0011others(11): Show | a0002c0001t0001g0001a0002c0001t0001g0027a0002c0001t0001g0028others(26): Show | 116 | 374 | 0.3102 | 2504 | c.166 others(2521): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2497): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0045 | 1 | 374 | 0.0027 | 2504 | c.166 others(2521): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2497): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18939.hp1 NA19081.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0017 | 3 | 374 | 0.0080 | 2504 | c.166 others(2521): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2497): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0121 | 1 | 374 | 0.0027 | 2504 | c.166 others(2521): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2497): Show |
intron_variant | MODIFIER | HG01243.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0022 | a0001c0001t0001a0001c0022t0001 | a0001c0001t0001g0043a0001c0022t0001g0044 | 2 | 170 | 0.0118 | 2504 | c.642 others(2521): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2497): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 301 | 0.0033 | 2504 | c.-11 others(2515): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364365 | G | GCTTACAC others(2497): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0250 | 1 | 290 | 0.0035 | 2504 | c.129 others(2523): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2497): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 | 1 | 116 | 0.0086 | 2504 | c.522 others(2521): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
STON2_chr14_81255652_81405324 | 81320429 | G | GACCATTT others(2497): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0188 | 1 | 264 | 0.0038 | 2504 | c.742 others(2521): Show |
STON2 | ENSG00000140022.14 | transcript | ENST00000614646.5 | protein_coding | 5/7 | chr14 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633736 | G | GCTTCAGT others(2498): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0013 | a0013c0015 | a0013c0015t0002 | a0013c0015t0002g0273 | 1 | 418 | 0.0024 | 2505 | c.96+ others(2520): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2498): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0160 | 1 | 418 | 0.0024 | 2505 | c.96+ others(2520): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2498): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0156 | 1 | 418 | 0.0024 | 2505 | c.96+ others(2520): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2498): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 334 | 0.0030 | 2505 | c.147 others(2522): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725423 | A | AGGTGGAT others(2498): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0286a0001c0001t0006g0301 | 2 | 324 | 0.0062 | 2505 | c.340 others(2522): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725423 | A | AGGTGGAT others(2498): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0292 | 1 | 324 | 0.0031 | 2505 | c.340 others(2522): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2498): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0003 | a0001c0003t0044 | a0001c0003t0044g0123 | 1 | 374 | 0.0027 | 2505 | c.166 others(2522): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2498): Show |
intron_variant | MODIFIER | HG00408.hp1 HG03834.hp1 NA18747.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0004 | a0001c0003t0003g0011a0001c0003t0004g0122 | 6 | 374 | 0.0160 | 2505 | c.166 others(2522): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2498): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02559.hp2 HG02630.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0043 | a0001c0002t0002g0009a0001c0002t0005g0076a0001c0002t0005g0077others(1): Show | 11 | 374 | 0.0294 | 2505 | c.166 others(2522): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2498): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG02129.hp2 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0004 | a0001c0003t0003g0014a0001c0003t0003g0020a0001c0003t0003g0088others(1): Show | 10 | 374 | 0.0267 | 2505 | c.166 others(2522): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2498): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(56): Show |
a0001a0009 | a0001c0003a0009c0014 | a0001c0003t0003a0001c0003t0004a0001c0003t0020others(3): Show | a0001c0003t0003g0004a0001c0003t0003g0022a0001c0003t0003g0109others(10): Show | 59 | 374 | 0.1578 | 2505 | c.166 others(2522): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2498): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02976.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0112a0001c0003t0003g0113 | 2 | 374 | 0.0054 | 2505 | c.166 others(2522): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2498): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0073 | 1 | 374 | 0.0027 | 2505 | c.166 others(2522): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2498): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0074 | 1 | 374 | 0.0027 | 2505 | c.166 others(2522): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2498): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0115 | 1 | 374 | 0.0027 | 2505 | c.166 others(2522): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2498): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0093 | 1 | 374 | 0.0027 | 2505 | c.166 others(2522): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2498): Show |
intron_variant | MODIFIER | HG00621.hp2 HG02886.hp2 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0006 | a0002c0001t0001g0047a0002c0001t0006g0046 | 2 | 374 | 0.0054 | 2505 | c.166 others(2522): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2498): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0006 | a0001c0006t0024 | a0001c0006t0024g0044 | 1 | 374 | 0.0027 | 2505 | c.166 others(2522): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2498): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0004 | a0001c0004t0046 | a0001c0004t0046g0087 | 1 | 374 | 0.0027 | 2505 | c.166 others(2522): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
EFCAB12_chr3_129396321_129433636 | 129404496 | T | TTTAATTC others(2498): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0193 | 1 | 386 | 0.0026 | 2505 | c.125 others(2520): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 6/8 | chr3 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(2498): Show |
intron_variant | MODIFIER | HG00323.hp1 HG03491.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0042a0001c0001t0001g0045 | 3 | 170 | 0.0177 | 2505 | c.642 others(2522): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2498): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 314 | 0.0032 | 2505 | c.-25 others(2522): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PDGFA_chr7_492258_524846 | 494651 | T | TGGGGGAT others(2498): Show |
downstream_gene_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0214 | 1 | 302 | 0.0033 | 2505 | c.*39 others(2516): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2606 | chr7 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 315836 | C | CCCCCACC others(2498): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0007 | a0007c0014 | a0007c0014t0018 | a0007c0014t0018g0102 | 1 | 133 | 0.0075 | 2505 | c.351 others(2522): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2498): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0144 | 1 | 272 | 0.0037 | 2505 | c.389 others(2524): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2498): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0169 | 1 | 272 | 0.0037 | 2505 | c.389 others(2524): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2499): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01074.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0009a0003c0004t0001g0155 | 4 | 418 | 0.0096 | 2506 | c.96+ others(2521): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2499): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0147 | 1 | 418 | 0.0024 | 2506 | c.96+ others(2521): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79358312 | G | GTGCCCTG others(2499): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 298 | 0.0034 | 2506 | c.290 others(2525): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 25/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCDC2C_chr2_3698575_3853008 | 3725401 | G | GGCAGAGA others(2499): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0273 | 1 | 324 | 0.0031 | 2506 | c.340 others(2523): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2499): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01981.hp1 NA18985.hp2 |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0004 | a0001c0003t0003g0035a0001c0003t0004g0107 | 3 | 374 | 0.0080 | 2506 | c.166 others(2523): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2499): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01891.hp2 HG01928.hp1 others(17): Show |
a0001a0008a0010 | a0001c0004a0008c0018a0010c0015 | a0001c0004t0007a0001c0004t0014a0001c0004t0015others(4): Show | a0001c0004t0007g0010a0001c0004t0007g0097a0001c0004t0007g0100others(9): Show | 20 | 374 | 0.0535 | 2506 | c.166 others(2523): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar | ||||||
DNTTIP2_chr1_93861284_93884206 | 93876124 | T | TTTTTCTT others(2499): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0004 | a0001c0004t0012 | a0001c0004t0012g0106 | 1 | 374 | 0.0027 | 2506 | c.166 others(2523): Show |
DNTTIP2 | ENSG00000067334.14 | transcript | ENST00000436063.7 | protein_coding | 2/6 | chr1 | TogoVar |