view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
EXD3_chr9_137301896_137428162 | 137355457 | A | AGGAGGAA others(2489): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 |
a0012a0013 | a0012c0028a0013c0027 | a0012c0028t0001a0013c0027t0001 | a0012c0028t0001g0080 a0013c0027t0001g0079 |
2 | 82 | 0.0244 | 2496 | c.758 others(2511): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859688 | C | CGGGTGTG others(2489): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0004 | a0004c0026 | a0004c0026t0001 | a0004c0026t0001g0032 | 1 | 294 | 0.0034 | 2496 | c.153 others(2515): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2489): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0085 | 1 | 294 | 0.0034 | 2496 | c.153 others(2515): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2489): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0004 | a0004c0018 | a0004c0018t0001 | a0004c0018t0001g0060 | 1 | 294 | 0.0034 | 2496 | c.153 others(2515): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MUC12_chr7_100964565_101023936 | 101004330 | G | GCCTGCCC others(2489): Show |
disruptive_inframe_insertion | MODERATE | NA18983.hp2 | a0005 | a0005c0253 | a0005c0253t0001 | a0005c0253t0001g0001 | 1 | 342 | 0.0029 | 2496 | c.137 others(2507): Show |
p.Ala others(2511): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13833/16366 | 13775/16008 | 4592/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2489): Show |
conservative_inframe_insertion | MODERATE | HG01192.hp1 | a0048 | a0048c0105 | a0048c0105t0001 | a0048c0105t0001g0145 | 1 | 249 | 0.0040 | 2496 | c.381 others(2505): Show |
p.Ser others(2511): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2489): Show |
conservative_inframe_insertion | MODERATE | HG00621.hp1 | a0036 | a0036c0118 | a0036c0118t0001 | a0036c0118t0001g0165 | 1 | 249 | 0.0040 | 2496 | c.381 others(2505): Show |
p.Ser others(2511): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2489): Show |
conservative_inframe_insertion | MODERATE | HG01255.hp1 HG01258.hp2 |
a0050a0053 | a0050c0120a0053c0121 | a0050c0120t0001a0053c0121t0001 | a0050c0120t0001g0031 a0053c0121t0001g0091 |
2 | 249 | 0.0080 | 2496 | c.381 others(2505): Show |
p.Ser others(2511): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | |||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2489): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0153 | 1 | 295 | 0.0034 | 2496 | c.715 others(2513): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2489): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0154 | 1 | 295 | 0.0034 | 2496 | c.715 others(2513): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2489): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 375 | 0.0027 | 2496 | c.*44 others(2507): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2489): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 HG02004.hp2 HG02148.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 |
12 | 375 | 0.0320 | 2496 | c.*44 others(2507): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 425298 | A | AGAAGCTG others(2490): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0318 | 1 | 432 | 0.0023 | 2497 | c.414 others(2514): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2490): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0039 | 1 | 116 | 0.0086 | 2497 | c.522 others(2514): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458567 | G | GTTCAGTG others(2490): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0071 | 1 | 295 | 0.0034 | 2497 | c.715 others(2514): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2490): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0201 a0001c0001t0002g0140 a0001c0001t0002g0141 |
3 | 272 | 0.0110 | 2497 | c.389 others(2516): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZNF146_chr19_36210106_36243768 | 36222838 | C | CTTTTTTT others(2490): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0226 | 1 | 390 | 0.0026 | 2497 | c.-85 others(2516): Show |
ZNF146 | ENSG00000167635.12 | transcript | ENST00000443387.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477317 | A | ACCCACCC others(2491): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0049 | 1 | 334 | 0.0030 | 2498 | c.147 others(2515): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2491): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0083 | 1 | 364 | 0.0028 | 2498 | c.445 others(2513): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2491): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02886.hp2 |
a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0080 a0002c0002t0014g0081 |
2 | 364 | 0.0055 | 2498 | c.445 others(2513): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF146_chr19_36210106_36243768 | 36222838 | C | CTTTTTTT others(2491): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0227 | 1 | 390 | 0.0026 | 2498 | c.-85 others(2517): Show |
ZNF146 | ENSG00000167635.12 | transcript | ENST00000443387.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF146_chr19_36210106_36243768 | 36222838 | C | CTTTTTTT others(2491): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0228 | 1 | 390 | 0.0026 | 2498 | c.-85 others(2517): Show |
ZNF146 | ENSG00000167635.12 | transcript | ENST00000443387.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF146_chr19_36210106_36243768 | 36222838 | C | CTTTTTTT others(2491): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0262 | 1 | 390 | 0.0026 | 2498 | c.-85 others(2517): Show |
ZNF146 | ENSG00000167635.12 | transcript | ENST00000443387.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2492): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0128 | 1 | 418 | 0.0024 | 2499 | c.96+ others(2514): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(2492): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0185 | 1 | 298 | 0.0034 | 2499 | c.955 others(2516): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 425298 | A | AGAAGCTG others(2492): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 432 | 0.0023 | 2499 | c.414 others(2516): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2492): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0022 | a0022c0052 | a0022c0052t0001 | a0022c0052t0001g0113 | 1 | 298 | 0.0034 | 2499 | c.126 others(2516): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2492): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 272 | 0.0037 | 2499 | c.389 others(2518): 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(2492): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0224 a0001c0017t0001g0262 |
2 | 272 | 0.0074 | 2499 | c.389 others(2518): 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(2492): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02040.hp2 |
a0002 | a0002c0014 | a0002c0014t0002 | a0002c0014t0002g0023 a0002c0014t0002g0027 |
2 | 272 | 0.0074 | 2499 | c.389 others(2518): 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(2493): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02523.hp1 NA18999.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0021 a0003c0004t0001g0158 |
3 | 418 | 0.0072 | 2500 | c.96+ others(2515): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2493): Show |
intron_variant | MODIFIER | NA19054.hp1 NA19080.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0150 a0003c0004t0001g0161 |
2 | 418 | 0.0048 | 2500 | c.96+ others(2515): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | |||||||
EFCAB12_chr3_129396321_129433636 | 129404496 | T | TTTAATTC others(2493): Show |
intron_variant | MODIFIER | HG02083.hp2 NA20905.hp1 |
a0005 | a0005c0006a0005c0015 | a0005c0006t0002a0005c0015t0001 | a0005c0006t0002g0207 a0005c0015t0001g0199 |
2 | 386 | 0.0052 | 2500 | c.125 others(2515): Show |
EFCAB12 | ENSG00000172771.13 | transcript | ENST00000505956.6 | protein_coding | 6/8 | chr3 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355669 | A | AGAGGAAG others(2493): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0062 | 1 | 82 | 0.0122 | 2500 | c.757 others(2515): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
FMN1_chr15_32760544_33199714 | 33149003 | T | TTGTTTTT others(2493): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03540.hp1 |
a0008 | a0008c0009 | a0008c0009t0006a0008c0009t0046 | a0008c0009t0006g0114 a0008c0009t0046g0115 |
2 | 196 | 0.0102 | 2500 | c.186 others(2519): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 4/20 | chr15 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997457 | G | GGGGGGCG others(2493): Show |
upstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 375 | 0.0027 | 2500 | c.-20 others(2511): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 213 | chr6 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1876936 | C | CCACTGGG others(2493): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 | 1 | 264 | 0.0038 | 2500 | c.199 others(2521): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1876936 | C | CCACTGGG others(2493): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 | 1 | 264 | 0.0038 | 2500 | c.199 others(2521): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1876936 | C | CCACTGGG others(2493): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | 264 | 0.0076 | 2500 | c.199 others(2521): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1876936 | C | CCACTGGG others(2493): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 264 | 0.0038 | 2500 | c.199 others(2521): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 18/18 | chr7 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(2493): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0015 | a0015c0019 | a0015c0019t0001 | a0015c0019t0001g0129 | 1 | 282 | 0.0036 | 2500 | c.299 others(2515): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3649113 | A | ATGCCCAC others(2493): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0014 | a0014c0014 | a0014c0014t0015 | a0014c0014t0015g0069 | 1 | 332 | 0.0030 | 2500 | c.112 others(2517): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(2493): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 332 | 0.0030 | 2500 | c.112 others(2517): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(2493): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0243 | 1 | 332 | 0.0030 | 2500 | c.112 others(2517): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(2493): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02080.hp2 |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0026 | a0001c0002t0004g0290 a0001c0002t0026g0077 |
2 | 370 | 0.0054 | 2500 | c.438 others(2517): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2493): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 272 | 0.0037 | 2500 | c.389 others(2519): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZNF146_chr19_36210106_36243768 | 36222838 | C | CTTTTTTT others(2493): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0191 | 1 | 390 | 0.0026 | 2500 | c.-85 others(2519): Show |
ZNF146 | ENSG00000167635.12 | transcript | ENST00000443387.3 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2494): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 334 | 0.0030 | 2501 | c.147 others(2518): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(2494): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 |
a0008 | a0008c0005 | a0008c0005t0004 | a0008c0005t0004g0003 | 2 | 338 | 0.0059 | 2501 | c.300 others(2518): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232050 | C | CGCCCACC others(2494): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 396 | 0.0025 | 2501 | c.513 others(2518): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |