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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TCF3_chr19_1604292_1657615 | 1629112 | A | AGGTGGGA others(1143): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0002 | a0002c0001 | a0002c0001t0007 | a0002c0001t0007g0061 | 1 | 352 | 0.0028 | 1150 | c.299 others(1167): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1143): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 360 | 0.0028 | 1150 | c.*24 others(1161): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1143): Show |
intron_variant | MODIFIER | HG02965.hp1 HG03453.hp2 HG06807.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0006a0003c0004t0001g0145a0003c0004t0001g0146 | 3 | 228 | 0.0132 | 1150 | c.127 others(1167): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ACTN2_chr1_236681499_236769631 | 236714488 | T | TAACCACT others(1144): Show |
intron_variant | MODIFIER | NA18939.hp1 NA18952.hp1 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0020a0001c0001t0004g0003a0001c0001t0004g0015 | 3 | 344 | 0.0087 | 1151 | c.127 others(1168): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1144): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02717.hp1 HG02818.hp1 others(2): Show |
a0001 | a0001c0010a0001c0011a0001c0018 | a0001c0010t0002a0001c0011t0004a0001c0018t0001 | a0001c0010t0002g0119a0001c0011t0004g0232a0001c0011t0004g0233others(2): Show | 5 | 246 | 0.0203 | 1151 | c.191 others(1170): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1144): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG01109.hp1 others(16): Show |
a0001 | a0001c0005a0001c0010 | a0001c0005t0001a0001c0005t0002a0001c0005t0003others(1): Show | a0001c0005t0001g0025a0001c0005t0001g0031a0001c0005t0001g0032others(16): Show | 19 | 246 | 0.0772 | 1151 | c.191 others(1170): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
ANO5_chr11_22188085_22288357 | 22243894 | T | TGCATCTC others(1144): Show |
intron_variant | MODIFIER | NA19078.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 364 | 0.0028 | 1151 | c.878 others(1168): Show |
ANO5 | ENSG00000171714.13 | transcript | ENST00000324559.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1144): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0223 | 1 | 298 | 0.0034 | 1151 | c.955 others(1168): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1144): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 298 | 0.0034 | 1151 | c.955 others(1168): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
BRI3BP_chr12_124988645_125036231 | 124999872 | G | GGCCTCCC others(1144): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0167 | 1 | 410 | 0.0024 | 1151 | c.213 others(1168): Show |
BRI3BP | ENSG00000184992.13 | transcript | ENST00000341446.9 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C2CD4C_chr19_400445_414147 | 404950 | C | CTGAGGGG others(1144): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0019 | 1 | 322 | 0.0031 | 1151 | c.*21 others(1162): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 494 | chr19 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939844 | G | GAAGAAAA others(1144): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 258 | 0.0039 | 1151 | c.403 others(1166): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1144): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0108 | 1 | 116 | 0.0086 | 1151 | c.-52 others(1172): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1144): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0111 | 1 | 364 | 0.0028 | 1151 | c.445 others(1166): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CYLC1_chrX_83856146_83891698 | 83878168 | A | ATAAATAT others(1144): Show |
intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 208 | 0.0048 | 1151 | c.192 others(1170): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | chrX | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947983 | G | GTGGTTGG others(1144): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0004 | a0004c0013 | a0004c0013t0003 | a0004c0013t0003g0036 | 1 | 136 | 0.0074 | 1151 | c.47- others(1168): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77252896 | T | TCACCACC others(1144): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0002 | a0001c0002t0029 | a0001c0002t0029g0190 | 1 | 366 | 0.0027 | 1151 | c.666 others(1168): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
INS_chr11_2154779_2166209 | 2161579 | G | GACCCCTG others(1144): Show |
upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 376 | 0.0027 | 1151 | c.-43 others(1160): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 371 | chr11 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161579 | G | GACCCCTG others(1144): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 376 | 0.0027 | 1151 | c.-43 others(1160): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 371 | chr11 | TogoVar | ||||||
KANK1_chr9_499695_751103 | 514223 | C | CCTCTCTC others(1144): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0044 | a0002c0044t0015 | a0002c0044t0015g0081 | 1 | 254 | 0.0039 | 1151 | c.-84 others(1168): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(1144): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0028 | a0028c0055 | a0028c0055t0001 | a0028c0055t0001g0034 | 1 | 186 | 0.0054 | 1151 | c.956 others(1168): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(1144): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 260 | 0.0039 | 1151 | c.624 others(1168): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PARP10_chr8_143972158_143991460 | 143981315 | G | GTGATGGT others(1144): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0186 | 1 | 380 | 0.0026 | 1151 | c.255 others(1170): Show |
PARP10 | ENSG00000178685.14 | transcript | ENST00000313028.12 | protein_coding | 9/10 | chr8 | TogoVar | ||||||
RIN3_chr14_92508781_92693994 | 92547347 | C | CTTTATTT others(1144): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0112 | 1 | 334 | 0.0030 | 1151 | c.45- others(1166): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
RIN3_chr14_92508781_92693994 | 92547356 | T | TATTATAA others(1144): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0196 | 1 | 334 | 0.0030 | 1151 | c.45- others(1166): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ROBO2_chr3_77035099_77654964 | 77322918 | A | ATATATTA others(1144): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0127 | 1 | 160 | 0.0063 | 1151 | c.389 others(1172): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(1144): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0063 | 1 | 203 | 0.0049 | 1151 | c.279 others(1168): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | ||||||
SLC22A1_chr6_160116815_160163718 | 160125720 | A | AGGATGTG others(1144): Show |
intron_variant | MODIFIER | NA18948.hp2 NA18990.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236a0001c0001t0001g0237 | 2 | 416 | 0.0048 | 1151 | c.411 others(1168): Show |
SLC22A1 | ENSG00000175003.15 | transcript | ENST00000366963.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1144): Show |
downstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1151 | c.*24 others(1162): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1144): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1151 | c.*24 others(1162): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1144): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1151 | c.*24 others(1162): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169894 | C | CTCCCTCC others(1144): Show |
downstream_gene_variant | MODIFIER | HG03490.hp1 | a0016 | a0016c0031 | a0016c0031t0011 | a0016c0031t0011g0049 | 1 | 115 | 0.0087 | 1151 | c.*13 others(1160): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 49 | chrX | TogoVar | ||||||
WDR27_chr6_169452212_169707029 | 169489571 | T | TGTGAAAA others(1144): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0017 | a0017c0047 | a0017c0047t0008 | a0017c0047t0008g0259 | 1 | 294 | 0.0034 | 1151 | c.264 others(1172): Show |
WDR27 | ENSG00000184465.16 | transcript | ENST00000448612.6 | protein_coding | 25/25 | chr6 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(1145): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0046 | a0001c0046t0001 | a0001c0046t0001g0078 | 1 | 248 | 0.0040 | 1152 | c.387 others(1171): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1289597 | T | TCCCCCGT others(1145): Show |
downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 295 | 0.0034 | 1152 | c.*39 others(1163): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2793 | chr1 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1145): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG02895.hp2 |
a0001 | a0001c0004 | a0001c0004t0003a0001c0004t0004 | a0001c0004t0003g0195a0001c0004t0004g0012a0001c0004t0004g0196 | 3 | 246 | 0.0122 | 1152 | c.191 others(1171): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130897690 | T | TACACACC others(1145): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01069.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0027a0001c0001t0002g0026a0001c0001t0002g0169others(4): Show | 7 | 246 | 0.0285 | 1152 | c.191 others(1171): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 7/17 | chr8 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(1145): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 262 | 0.0038 | 1152 | c.106 others(1171): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
APCDD1L_chr20_58454101_58520399 | 58520302 | T | TAGGAGGA others(1145): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG03486.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0254a0002c0002t0002g0359 | 2 | 376 | 0.0053 | 1152 | c.-55 others(1163): Show |
APCDD1L | ENSG00000198768.11 | transcript | ENST00000371149.8 | protein_coding | 4904 | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1145): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0017 | a0001c0017t0004 | a0001c0017t0004g0099 | 1 | 298 | 0.0034 | 1152 | c.955 others(1169): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79308997 | G | GCTGAGTA others(1145): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0014 | a0001c0014t0006 | a0001c0014t0006g0093 | 1 | 298 | 0.0034 | 1152 | c.177 others(1171): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79309249 | G | GTGGTGGA others(1145): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01069.hp1 HG01071.hp1 others(5): Show |
a0004 | a0004c0008a0004c0036 | a0004c0008t0001a0004c0036t0001 | a0004c0008t0001g0001a0004c0008t0001g0269a0004c0008t0001g0270others(4): Show | 8 | 298 | 0.0269 | 1152 | c.177 others(1171): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | chr18 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(1145): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0166 | 1 | 214 | 0.0047 | 1152 | c.565 others(1169): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1145): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0238 | 1 | 334 | 0.0030 | 1152 | c.-25 others(1163): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1145): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0003 | a0003c0017 | a0003c0017t0044 | a0003c0017t0044g0200 | 1 | 334 | 0.0030 | 1152 | c.-25 others(1163): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1145): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0011 | a0011c0018 | a0011c0018t0035 | a0011c0018t0035g0318 | 1 | 334 | 0.0030 | 1152 | c.-25 others(1163): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1145): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0255 | 1 | 334 | 0.0030 | 1152 | c.-25 others(1163): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1145): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0027 | a0027c0037 | a0027c0037t0021 | a0027c0037t0021g0157 | 1 | 334 | 0.0030 | 1152 | c.-25 others(1163): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | ||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(1145): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0003 | a0003c0040 | a0003c0040t0001 | a0003c0040t0001g0203 | 1 | 372 | 0.0027 | 1152 | c.180 others(1171): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
COMMD9_chr11_36267292_36294424 | 36287046 | A | ATATGTAT others(1145): Show |
intron_variant | MODIFIER | HG00609.hp2 HG04199.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188a0001c0001t0001g0231a0001c0001t0001g0232 | 3 | 448 | 0.0067 | 1152 | c.51+ others(1167): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar |