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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAOB_chrX_43761610_43887450 | 43771629 | T | TTTACTTT others(724): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 234 | 0.0043 | 731 | c.123 others(750): Show |
MAOB | ENSG00000069535.14 | transcript | ENST00000378069.5 | protein_coding | 12/14 | chrX | TogoVar | ||||||
MED27_chr9_131855112_132084867 | 131964326 | G | GAGGTGAT others(724): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 274 | 0.0037 | 731 | c.480 others(750): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
MED27_chr9_131855112_132084867 | 131964326 | G | GAGGTGAT others(724): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 274 | 0.0037 | 731 | c.480 others(750): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
MED27_chr9_131855112_132084867 | 131964326 | G | GAGGTGAT others(724): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00609.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0001g0088a0001c0001t0001g0098others(43): Show | 46 | 274 | 0.1679 | 731 | c.480 others(750): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
MED27_chr9_131855112_132084867 | 131964326 | G | GAGGTGAT others(724): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 274 | 0.0037 | 731 | c.480 others(750): Show |
MED27 | ENSG00000160563.14 | transcript | ENST00000292035.10 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(724): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0015 | 1 | 140 | 0.0071 | 731 | c.114 others(750): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MRTFA_chr22_40405289_40641719 | 40537435 | G | GGGCCAGC others(724): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0075 | 1 | 256 | 0.0039 | 731 | c.241 others(750): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | |||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(724): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0203 | 1 | 312 | 0.0032 | 731 | c.293 others(750): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MSRB3_chr12_65273683_65471907 | 65425002 | C | CTATATAT others(724): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 312 | 0.0032 | 731 | c.293 others(750): Show |
MSRB3 | ENSG00000174099.12 | transcript | ENST00000308259.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
NRCAM_chr7_108142649_108461436 | 108299110 | A | AAGAAAGA others(724): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0127 | 1 | 208 | 0.0048 | 731 | c.-10 others(752): Show |
NRCAM | ENSG00000091129.22 | transcript | ENST00000379028.8 | protein_coding | 3/32 | chr7 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841381 | T | TGCATCTC others(724): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0219 | 1 | 242 | 0.0041 | 731 | c.361 others(750): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841458 | C | CGCATCTC others(724): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 | 1 | 242 | 0.0041 | 731 | c.361 others(750): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841612 | A | AGCATCTC others(724): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003 | 1 | 242 | 0.0041 | 731 | c.361 others(750): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PARP10_chr8_143972158_143991460 | 143988242 | T | TGGGTTCA others(724): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 HG02622.hp2 HG02630.hp2 others(11): Show |
a0005 | a0005c0005 | a0005c0005t0003 | a0005c0005t0003g0006a0005c0005t0003g0008a0005c0005t0003g0198others(6): Show | 14 | 380 | 0.0368 | 731 | c.-18 others(742): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 1783 | chr8 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909792 | C | CCCCCCCG others(724): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 | 1 | 292 | 0.0034 | 731 | c.471 others(746): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PJA2_chr5_109329722_109414974 | 109353960 | T | TGATATCT others(724): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0075 | 1 | 346 | 0.0029 | 731 | c.176 others(750): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(724): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0029 | a0029c0033 | a0029c0033t0042 | a0029c0033t0042g0163 | 1 | 210 | 0.0048 | 731 | c.147 others(748): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(724): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(97): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0002a0001c0007others(29): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(85): Show | a0001c0001t0001g0142a0001c0001t0004g0020a0001c0001t0005g0090others(97): Show | 100 | 210 | 0.4762 | 731 | c.147 others(748): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(724): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01106.hp1 others(1): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0012a0001c0002t0012a0002c0005t0127others(1): Show | a0001c0001t0012g0069a0001c0002t0012g0066a0002c0005t0127g0124others(1): Show | 4 | 210 | 0.0191 | 731 | c.147 others(748): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(724): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0003 | a0003c0044 | a0003c0044t0001 | a0003c0044t0001g0116 | 1 | 210 | 0.0048 | 731 | c.147 others(748): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(724): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG02080.hp2 others(13): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0003c0004others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0014others(10): Show | a0001c0001t0001g0084a0001c0001t0001g0159a0001c0001t0006g0075others(13): Show | 16 | 210 | 0.0762 | 731 | c.147 others(748): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(724): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0131 | 1 | 210 | 0.0048 | 731 | c.147 others(748): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 141104 | C | CCCCCTGC others(724): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0119 | 1 | 210 | 0.0048 | 731 | c.147 others(748): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
RAB3C_chr5_58578075_58864394 | 58597333 | T | TATGTAAT others(724): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0192 | 1 | 220 | 0.0046 | 731 | c.24+ others(748): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | chr5 | TogoVar | ||||||
RGS12_chr4_3288021_3444913 | 3341671 | G | GAGGGTGG others(724): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0200 | 1 | 312 | 0.0032 | 731 | c.188 others(750): Show |
RGS12 | ENSG00000159788.20 | transcript | ENST00000336727.8 | protein_coding | 2/17 | chr4 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80930319 | A | ATCCTCAG others(724): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0075 | a0001c0075t0012 | a0001c0075t0012g0127 | 1 | 196 | 0.0051 | 731 | c.291 others(750): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | chr17 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934373 | C | CATATATA others(724): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 324 | 0.0031 | 731 | c.115 others(748): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168726523 | G | GGAGGCAG others(724): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0069 | 1 | 132 | 0.0076 | 731 | c.227 others(750): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGAAGGG others(724): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 731 | c.*12 others(742): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | ||||||
SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGGAGGG others(724): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 731 | c.*12 others(742): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | ||||||
SRXN1_chr20_641615_658200 | 641939 | G | GGGGGGGG others(724): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0026 | 1 | 422 | 0.0024 | 731 | c.*67 others(742): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4675 | chr20 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(724): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0317 | 1 | 322 | 0.0031 | 731 | c.597 others(748): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9706252 | T | TTGGTGAT others(724): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0218 | 1 | 294 | 0.0034 | 731 | c.241 others(748): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SYNDIG1_chr20_24464629_24671616 | 24530039 | A | AATACCCC others(724): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 270 | 0.0037 | 731 | c.-78 others(750): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
THBS2_chr6_169210785_169258846 | 169242624 | C | CCTTCCCA others(724): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00738.hp2 others(24): Show |
a0001 | a0001c0003a0001c0004a0001c0008others(1): Show | a0001c0003t0002a0001c0003t0025a0001c0004t0001others(6): Show | a0001c0003t0002g0001a0001c0003t0002g0048a0001c0003t0002g0051others(19): Show | 27 | 396 | 0.0682 | 731 | c.695 others(746): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | ||||||
TMEM132B_chr12_125181386_125667369 | 125612896 | A | ATAAAAAT others(724): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0025 | a0001c0003t0025g0006 | 1 | 128 | 0.0078 | 731 | c.143 others(752): Show |
TMEM132B | ENSG00000139364.11 | transcript | ENST00000682704.1 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(724): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0004 | a0004c0009 | a0004c0009t0002 | a0004c0009t0002g0090 | 1 | 114 | 0.0088 | 731 | c.-25 others(750): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TNFSF13B_chr13_108264718_108313478 | 108278578 | C | CTCCTCCT others(724): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0032 | 1 | 384 | 0.0026 | 731 | c.424 others(748): Show |
TNFSF13B | ENSG00000102524.12 | transcript | ENST00000375887.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(724): Show |
intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0163 | 1 | 174 | 0.0058 | 731 | c.41- others(748): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53204100 | T | TATACTAT others(724): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0068 | 1 | 174 | 0.0058 | 731 | c.41- others(748): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53204105 | T | TATTATAT others(724): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0167 | 1 | 174 | 0.0058 | 731 | c.41- others(748): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
UCKL1_chr20_63934829_63961416 | 63948575 | G | GGGGCGTG others(724): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 356 | 0.0028 | 731 | c.114 others(748): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
ZNF627_chr19_11592483_11624161 | 11613137 | C | CCCTTCCC others(724): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 322 | 0.0031 | 731 | c.4-1 others(744): Show |
ZNF627 | ENSG00000198551.10 | transcript | ENST00000361113.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCA7_chr19_1035107_1070572 | 1049875 | C | CCCCCCGG others(725): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019 | 1 | 30 | 0.0333 | 732 | c.255 others(749): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ABCB11_chr2_168915781_169036324 | 168975506 | G | GATAAATA others(725): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0005 | a0005c0011 | a0005c0011t0002 | a0005c0011t0002g0178 | 1 | 306 | 0.0033 | 732 | c.130 others(751): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | ||||||
ADCY1_chr7_45569368_45728116 | 45610760 | A | AGAGGTGA others(725): Show |
intron_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 278 | 0.0036 | 732 | c.908 others(747): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AK3_chr9_4704556_4746202 | 4713900 | C | CTACACAT others(725): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0066 | a0001c0001t0066g0085 | 1 | 462 | 0.0022 | 732 | c.564 others(747): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
ALMS1_chr2_73380836_73614916 | 73561672 | A | ATAATAGC others(725): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02486.hp2 others(11): Show |
a0002a0014a0018others(1): Show | a0002c0004a0002c0047a0014c0021others(3): Show | a0002c0004t0001a0002c0047t0001a0014c0021t0001others(3): Show | a0002c0004t0001g0005a0002c0004t0001g0034a0002c0004t0001g0035others(11): Show | 14 | 248 | 0.0565 | 732 | c.103 others(753): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 15/22 | chr2 | TogoVar | ||||||
ANKRD11_chr16_89262630_89495561 | 89398253 | A | ACTGTGAA others(725): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03579.hp2 |
a0001a0012 | a0001c0022a0012c0057 | a0001c0022t0001a0012c0057t0001 | a0001c0022t0001g0123a0012c0057t0001g0122 | 2 | 310 | 0.0065 | 732 | c.-60 others(751): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
ANO2_chr12_5557655_5950259 | 5931519 | C | CAGACTAG others(725): Show |
intron_variant | MODIFIER | HG02273.hp1 NA20805.hp2 |
a0003 | a0003c0004a0003c0011 | a0003c0004t0002a0003c0011t0001 | a0003c0004t0002g0150a0003c0011t0001g0072 | 2 | 162 | 0.0124 | 732 | c.23- others(747): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar |