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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1087): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0204 | 1 | 370 | 0.0027 | 1094 | c.438 others(1111): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | ||||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1087): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01975.hp2 HG02004.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0152a0001c0001t0001g0294a0001c0001t0001g0295others(1): Show | 4 | 304 | 0.0132 | 1094 | c.347 others(1109): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1087): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02132.hp1 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0153a0001c0001t0002g0086a0001c0001t0002g0089 | 3 | 304 | 0.0099 | 1094 | c.347 others(1109): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1087): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01261.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0001g0038others(12): Show | 15 | 304 | 0.0493 | 1094 | c.347 others(1109): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1087): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 304 | 0.0033 | 1094 | c.347 others(1109): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RGN_chrX_47073443_47098313 | 47089400 | A | AATATATT others(1087): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 304 | 0.0033 | 1094 | c.347 others(1109): Show |
RGN | ENSG00000130988.13 | transcript | ENST00000397180.6 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1087): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0298 | 1 | 334 | 0.0030 | 1094 | c.45- others(1109): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGTGT others(1087): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 2 | 420 | 0.0048 | 1094 | c.*32 others(1105): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | ||||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1087): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 258 | 0.0039 | 1094 | c.113 others(1113): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TERT_chr5_1248167_1300068 | 1291460 | C | CAGGGACA others(1087): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0018 | 1 | 392 | 0.0026 | 1094 | c.157 others(1113): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
TH_chr11_2158929_2176815 | 2161579 | G | GACCCCTG others(1087): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 1 | 388 | 0.0026 | 1094 | c.*26 others(1105): Show |
TH | ENSG00000180176.15 | transcript | ENST00000352909.8 | protein_coding | 2349 | chr11 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744308 | T | TAAAATAT others(1087): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 372 | 0.0027 | 1094 | c.749 others(1109): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1087): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0340 | 1 | 394 | 0.0025 | 1094 | c.129 others(1111): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
WDR64_chr1_241647281_241807777 | 241675038 | T | TCCTGCCT others(1087): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0134 | 1 | 326 | 0.0031 | 1094 | c.483 others(1109): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1088): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 360 | 0.0028 | 1095 | c.170 others(1116): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1088): Show |
intron_variant | MODIFIER | HG00140.hp2 HG03491.hp1 HG03492.hp1 others(3): Show |
a0006a0009a0033 | a0006c0007a0006c0019a0009c0020others(1): Show | a0006c0007t0001a0006c0019t0001a0009c0020t0001others(1): Show | a0006c0007t0001g0135a0006c0007t0001g0136a0006c0007t0001g0166others(3): Show | 6 | 360 | 0.0167 | 1095 | c.170 others(1116): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ADAP1_chr7_892900_959680 | 915088 | A | AAGGGTGG others(1088): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0011 | 1 | 14 | 0.0714 | 1095 | c.388 others(1112): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
ADAP1_chr7_892900_959680 | 915088 | A | AAGGGTGG others(1088): Show |
intron_variant | MODIFIER | HG01993.hp2 HG03654.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0009 | 3 | 14 | 0.2143 | 1095 | c.388 others(1112): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1088): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0088 | 1 | 238 | 0.0042 | 1095 | c.787 others(1110): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARID1B_chr6_156772378_157215779 | 157147227 | A | ACCCCCGC others(1088): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0107 | 1 | 150 | 0.0067 | 1095 | c.276 others(1114): Show |
ARID1B | ENSG00000049618.25 | transcript | ENST00000636930.2 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1088): Show |
intron_variant | MODIFIER | NA18993.hp1 NA19065.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051a0001c0002t0001g0080 | 2 | 326 | 0.0061 | 1095 | c.327 others(1112): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1088): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0054 | 1 | 326 | 0.0031 | 1095 | c.327 others(1112): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
CFAP20DC_chr3_58737008_59055025 | 58798137 | T | TAAGAAAT others(1088): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02897.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0179a0002c0003t0001g0181 | 2 | 204 | 0.0098 | 1095 | c.223 others(1114): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20320519 | A | ATAATATA others(1088): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0012 | a0001c0012t0006 | a0001c0012t0006g0009 | 1 | 236 | 0.0042 | 1095 | c.342 others(1116): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | ||||||
CHMP1A_chr16_89639435_89662708 | 89648362 | A | AGACCCAG others(1088): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 392 | 0.0026 | 1095 | c.252 others(1110): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647631 | T | TCCCCCTC others(1088): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0130 | 1 | 276 | 0.0036 | 1095 | c.*54 others(1106): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2287 | chr15 | TogoVar | ||||||
CTU2_chr16_88701503_88720396 | 88712921 | C | CCCCCTTC others(1088): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0176 | 1 | 418 | 0.0024 | 1095 | c.737 others(1108): Show |
CTU2 | ENSG00000174177.13 | transcript | ENST00000453996.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1088): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0100 | a0100c0084 | a0100c0084t0001 | a0100c0084t0001g0177 | 1 | 252 | 0.0040 | 1095 | c.118 others(1114): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1088): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0062 | a0062c0069 | a0062c0069t0001 | a0062c0069t0001g0018 | 1 | 252 | 0.0040 | 1095 | c.118 others(1114): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355693 | G | GGAGGAAG others(1088): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0031 | a0031c0033 | a0031c0033t0001 | a0031c0033t0001g0017 | 1 | 82 | 0.0122 | 1095 | c.757 others(1110): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | ||||||
FBXO47_chr17_38931432_38972403 | 38946629 | T | TAAGTACA others(1088): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0008 | 1 | 344 | 0.0029 | 1095 | c.617 others(1112): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | ||||||
GAS8_chr16_90017680_90049960 | 90028175 | T | TTTTTTTT others(1088): Show |
intron_variant | MODIFIER | NA18939.hp2 NA19057.hp2 |
a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0101a0001c0003t0007g0102 | 2 | 390 | 0.0051 | 1095 | c.90+ others(1108): Show |
GAS8 | ENSG00000141013.17 | transcript | ENST00000268699.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HAUS2_chr15_42543838_42574994 | 42557411 | T | TATATTTT others(1088): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 350 | 0.0029 | 1095 | c.94- others(1108): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 1/5 | chr15 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055108 | A | AGAGGGAT others(1088): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0006 | a0001c0001t0005g0181a0001c0002t0006g0180 | 2 | 236 | 0.0085 | 1095 | c.193 others(1114): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055116 | A | AGTTGGAT others(1088): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0009 | 1 | 236 | 0.0042 | 1095 | c.193 others(1114): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916099 | T | TTATATAT others(1088): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0053 | a0001c0001t0053g0058 | 1 | 108 | 0.0093 | 1095 | c.648 others(1114): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1088): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0002 | a0001c0002t0058 | a0001c0002t0058g0056 | 1 | 108 | 0.0093 | 1095 | c.648 others(1114): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43432638 | A | AGAAAGGG others(1088): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0006 | a0001c0006t0017 | a0001c0006t0017g0193 | 1 | 250 | 0.0040 | 1095 | c.225 others(1112): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
NXN_chr17_794310_984776 | 952622 | T | TGGGGGGG others(1088): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 242 | 0.0041 | 1095 | c.360 others(1114): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88712921 | C | CCCCCTTC others(1088): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 | a0023 | a0023c0037 | a0023c0037t0012 | a0023c0037t0012g0268 | 1 | 282 | 0.0036 | 1095 | c.*26 others(1106): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2416 | chr16 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88712921 | C | CCCCCTTC others(1088): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 | a0057 | a0057c0100 | a0057c0100t0008 | a0057c0100t0008g0278 | 1 | 282 | 0.0036 | 1095 | c.*26 others(1106): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 2416 | chr16 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1088): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0135 | 1 | 282 | 0.0036 | 1095 | c.299 others(1110): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
SCUBE1_chr22_43192280_43348372 | 43339818 | T | TTCTACCC others(1088): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0080 | 1 | 280 | 0.0036 | 1095 | c.89- others(1108): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
TMEM68_chr8_55733758_55778378 | 55744307 | T | TAAAATAT others(1088): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 372 | 0.0027 | 1095 | c.749 others(1110): Show |
TMEM68 | ENSG00000167904.16 | transcript | ENST00000434581.7 | protein_coding | 6/7 | chr8 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507342 | T | CGTATATA others(1088): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0268 | 1 | 388 | 0.0026 | 1095 | c.-23 others(1112): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507456 | A | ATACGTAT others(1088): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0292 | 1 | 388 | 0.0026 | 1095 | c.-23 others(1112): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028749 | A | AAAGACCC others(1088): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0173 | 1 | 224 | 0.0045 | 1095 | c.225 others(1114): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1089): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0340 | 1 | 360 | 0.0028 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1089): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0085 | 1 | 360 | 0.0028 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ABCB5_chr7_20610667_20762008 | 20668985 | G | GCCCCCCG others(1089): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0004 | a0004c0008 | a0004c0008t0006 | a0004c0008t0006g0118 | 1 | 360 | 0.0028 | 1096 | c.170 others(1117): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |